# curie_map: # BFO: http://purl.obolibrary.org/obo/BFO_ # CSP: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/CSP/ # DECIPHER: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/DECIPHER/ # DOID: http://purl.obolibrary.org/obo/DOID_ # EFO: http://www.ebi.ac.uk/efo/EFO_ # GARD: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/GARD/ # GTR: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/GTR/ # HGNC: http://identifiers.org/hgnc/ # HP: http://purl.obolibrary.org/obo/HP_ # ICD10CM: http://purl.bioontology.org/ontology/ICD10CM/ # ICD10EXP: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/ICD10EXP/ # ICD10WHO: https://icd.who.int/browse10/2019/en#/ # ICD9: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/ICD9/ # ICD9CM: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/ICD9CM/ # ICDO: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/ICDO/ # IDO: http://purl.obolibrary.org/obo/IDO_ # IEDB: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/IEDB/ # MEDGEN: http://identifiers.org/medgen/ # MFOMD: http://purl.obolibrary.org/obo/MFOMD_ # MONDO: http://purl.obolibrary.org/obo/MONDO_ # MPATH: http://purl.obolibrary.org/obo/MPATH_ # MTH: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/MTH/ # MedDRA: http://identifiers.org/meddra/ # NCIT: http://purl.obolibrary.org/obo/NCIT_ # NDFRT: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/NDFRT/ # NIFSTD: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/NIFSTD/ # OBI: http://purl.obolibrary.org/obo/OBI_ # OGMS: http://purl.obolibrary.org/obo/OGMS_ # OMIA: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/OMIA/ # OMIM: https://omim.org/entry/ # OMIMPS: https://omim.org/phenotypicSeries/PS # ONCOTREE: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/ONCOTREE/ # Orphanet: http://www.orpha.net/ORDO/Orphanet_ # PMID: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/PMID/ # RO: http://purl.obolibrary.org/obo/RO_ # SCDO: http://purl.obolibrary.org/obo/SCDO_ # SCTID: http://snomed.info/id/ # UMLS: http://linkedlifedata.com/resource/umls/id/ # Wikipedia: http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/Wikipedia/ # mesh: http://identifiers.org/mesh/ # oboInOwl: http://www.geneontology.org/formats/oboInOwl# # owl: http://www.w3.org/2002/07/owl# # rdf: http://www.w3.org/1999/02/22-rdf-syntax-ns# # rdfs: http://www.w3.org/2000/01/rdf-schema# # semapv: https://w3id.org/semapv/vocab/ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified # mapping_set_id: http://purl.obolibrary.org/obo/mondo/mappings/mondo.sssom.tsv subject_id subject_label predicate_id object_id object_label mapping_justification MONDO:0000001 disease skos:exactMatch DOID:4 disease semapv:UnspecifiedMatching MONDO:0000001 disease skos:exactMatch NCIT:C2991 Disease or Disorder semapv:UnspecifiedMatching MONDO:0000001 disease skos:exactMatch Orphanet:377788 Disease semapv:UnspecifiedMatching MONDO:0000001 disease skos:exactMatch SCTID:64572001 semapv:UnspecifiedMatching MONDO:0000001 disease skos:exactMatch UMLS:C0012634 semapv:UnspecifiedMatching MONDO:0000001 disease skos:exactMatch mesh:D004194 semapv:UnspecifiedMatching MONDO:0000004 adrenocortical insufficiency skos:exactMatch DOID:10493 adrenal cortical hypofunction semapv:UnspecifiedMatching MONDO:0000004 adrenocortical insufficiency skos:exactMatch NCIT:C26691 Adrenocortical Insufficiency semapv:UnspecifiedMatching MONDO:0000004 adrenocortical insufficiency skos:exactMatch SCTID:386584007 semapv:UnspecifiedMatching MONDO:0000004 adrenocortical insufficiency skos:exactMatch UMLS:C0405580 semapv:UnspecifiedMatching MONDO:0000004 adrenocortical insufficiency skos:exactMatch mesh:D000309 semapv:UnspecifiedMatching MONDO:0000005 alopecia, isolated skos:exactMatch OMIMPS:203655 semapv:UnspecifiedMatching MONDO:0000009 inherited bleeding disorder, platelet-type skos:exactMatch DOID:2218 blood platelet disease semapv:UnspecifiedMatching MONDO:0000009 inherited bleeding disorder, platelet-type skos:exactMatch OMIMPS:231200 semapv:UnspecifiedMatching MONDO:0000009 inherited bleeding disorder, platelet-type skos:exactMatch UMLS:C0005818 semapv:UnspecifiedMatching MONDO:0000015 classic complement early component deficiency skos:exactMatch SCTID:363009005 semapv:UnspecifiedMatching MONDO:0000015 classic complement early component deficiency skos:exactMatch UMLS:C1285186 semapv:UnspecifiedMatching MONDO:0000022 nocturnal enuresis skos:exactMatch NCIT:C118172 Nocturnal Enuresis semapv:UnspecifiedMatching MONDO:0000022 nocturnal enuresis skos:exactMatch mesh:D053206 semapv:UnspecifiedMatching MONDO:0000023 infantile liver failure skos:exactMatch DOID:0080716 infantile liver failure syndrome semapv:UnspecifiedMatching MONDO:0000023 infantile liver failure skos:exactMatch OMIMPS:615438 semapv:UnspecifiedMatching MONDO:0000023 infantile liver failure skos:exactMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:UnspecifiedMatching MONDO:0000023 infantile liver failure skos:exactMatch UMLS:CN228161 semapv:UnspecifiedMatching MONDO:0000030 sleep-related hypermotor epilepsy skos:exactMatch OMIMPS:600513 semapv:UnspecifiedMatching MONDO:0000032 febrile seizures, familial skos:exactMatch DOID:0111297 familial febrile seizures semapv:UnspecifiedMatching MONDO:0000032 febrile seizures, familial skos:exactMatch OMIMPS:121210 semapv:UnspecifiedMatching MONDO:0000044 hereditary hypophosphatemic rickets skos:exactMatch OMIMPS:193100 semapv:UnspecifiedMatching MONDO:0000044 hereditary hypophosphatemic rickets skos:exactMatch Orphanet:437 Hypophosphatemic rickets semapv:UnspecifiedMatching MONDO:0000045 hypothyroidism, congenital, nongoitrous skos:exactMatch OMIMPS:275200 semapv:UnspecifiedMatching MONDO:0000049 obsolete invasive pneumococcal disease, recurrent isolated skos:exactMatch OMIMPS:610799 semapv:UnspecifiedMatching MONDO:0000049 obsolete invasive pneumococcal disease, recurrent isolated skos:exactMatch UMLS:CN228622 semapv:UnspecifiedMatching MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch DOID:0060870 isolated growth hormone deficiency semapv:UnspecifiedMatching MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch OMIMPS:262400 semapv:UnspecifiedMatching MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:UnspecifiedMatching MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch SCTID:2109003 semapv:UnspecifiedMatching MONDO:0000062 isolated microphthalmia skos:exactMatch DOID:0080637 isolated microphthalmia semapv:UnspecifiedMatching MONDO:0000062 isolated microphthalmia skos:exactMatch OMIMPS:251600 semapv:UnspecifiedMatching MONDO:0000065 microvascular complications of diabetes, susceptibility skos:exactMatch OMIMPS:603933 semapv:UnspecifiedMatching MONDO:0000065 microvascular complications of diabetes, susceptibility skos:exactMatch UMLS:CN357508 semapv:UnspecifiedMatching MONDO:0000078 acrocephalopolysyndactyly skos:exactMatch SCTID:205260006 semapv:UnspecifiedMatching MONDO:0000078 acrocephalopolysyndactyly skos:exactMatch UMLS:C0687154 semapv:UnspecifiedMatching MONDO:0000079 nephrolithiasis/osteoporosis, hypophosphatemic skos:exactMatch DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis semapv:UnspecifiedMatching MONDO:0000079 nephrolithiasis/osteoporosis, hypophosphatemic skos:exactMatch OMIMPS:612286 semapv:UnspecifiedMatching MONDO:0000082 pelvic organ prolapse skos:exactMatch SCTID:237113009 semapv:UnspecifiedMatching MONDO:0000082 pelvic organ prolapse skos:exactMatch UMLS:C0877015 semapv:UnspecifiedMatching MONDO:0000082 pelvic organ prolapse skos:exactMatch mesh:D056887 semapv:UnspecifiedMatching MONDO:0000087 polymicrogyria skos:exactMatch DOID:0080918 polymicrogyria semapv:UnspecifiedMatching MONDO:0000087 polymicrogyria skos:exactMatch NCIT:C116936 Polymicrogyria semapv:UnspecifiedMatching MONDO:0000087 polymicrogyria skos:exactMatch Orphanet:35981 Polymicrogyria semapv:UnspecifiedMatching MONDO:0000087 polymicrogyria skos:exactMatch SCTID:4945003 semapv:UnspecifiedMatching MONDO:0000087 polymicrogyria skos:exactMatch UMLS:C0266464 semapv:UnspecifiedMatching MONDO:0000087 polymicrogyria skos:exactMatch mesh:D065706 semapv:UnspecifiedMatching MONDO:0000088 precocious puberty skos:exactMatch ICD10CM:E30.1 Precocious puberty semapv:UnspecifiedMatching MONDO:0000088 precocious puberty skos:exactMatch NCIT:C79704 Precocious Puberty semapv:UnspecifiedMatching MONDO:0000088 precocious puberty skos:exactMatch Orphanet:95708 Rare precocious puberty semapv:UnspecifiedMatching MONDO:0000088 precocious puberty skos:exactMatch SCTID:400179000 semapv:UnspecifiedMatching MONDO:0000088 precocious puberty skos:exactMatch UMLS:C0034013 semapv:UnspecifiedMatching MONDO:0000088 precocious puberty skos:exactMatch mesh:D011629 semapv:UnspecifiedMatching MONDO:0000090 progressive external ophthalmoplegia with mitochondrial DNA deletions skos:exactMatch OMIMPS:157640 semapv:UnspecifiedMatching MONDO:0000104 anemia, hypochromic microcytic with iron overload skos:exactMatch OMIMPS:206100 semapv:UnspecifiedMatching MONDO:0000104 anemia, hypochromic microcytic with iron overload skos:exactMatch UMLS:C2673913 semapv:UnspecifiedMatching MONDO:0000104 anemia, hypochromic microcytic with iron overload skos:exactMatch mesh:C567144 semapv:UnspecifiedMatching MONDO:0000107 auriculocondylar syndrome skos:exactMatch OMIMPS:602483 semapv:UnspecifiedMatching MONDO:0000107 auriculocondylar syndrome skos:exactMatch Orphanet:137888 Auriculocondylar syndrome semapv:UnspecifiedMatching MONDO:0000107 auriculocondylar syndrome skos:exactMatch SCTID:702443003 semapv:UnspecifiedMatching MONDO:0000107 auriculocondylar syndrome skos:exactMatch UMLS:C1865295 semapv:UnspecifiedMatching MONDO:0000107 auriculocondylar syndrome skos:exactMatch mesh:C538270 semapv:UnspecifiedMatching MONDO:0000108 bacteremia, susceptibility skos:exactMatch UMLS:C3280646 semapv:UnspecifiedMatching MONDO:0000110 bifid nose skos:exactMatch Orphanet:2695 Bifid nose semapv:UnspecifiedMatching MONDO:0000110 bifid nose skos:exactMatch UMLS:C0221363 semapv:UnspecifiedMatching MONDO:0000110 bifid nose skos:exactMatch mesh:C535441 semapv:UnspecifiedMatching MONDO:0000115 Chiari malformation skos:exactMatch NCIT:C84570 Arnold-Chiari Malformation semapv:UnspecifiedMatching MONDO:0000115 Chiari malformation skos:exactMatch SCTID:253184003 semapv:UnspecifiedMatching MONDO:0000115 Chiari malformation skos:exactMatch mesh:D001139 semapv:UnspecifiedMatching MONDO:0000118 reticulate pigment disorder skos:exactMatch OMIMPS:179850 semapv:UnspecifiedMatching MONDO:0000127 geleophysic dysplasia skos:exactMatch DOID:0111724 geleophysic dysplasia semapv:UnspecifiedMatching MONDO:0000127 geleophysic dysplasia skos:exactMatch OMIMPS:231050 semapv:UnspecifiedMatching MONDO:0000127 geleophysic dysplasia skos:exactMatch Orphanet:2623 Geleophysic dysplasia semapv:UnspecifiedMatching MONDO:0000127 geleophysic dysplasia skos:exactMatch SCTID:28557005 semapv:UnspecifiedMatching MONDO:0000128 giant axonal neuropathy skos:exactMatch NCIT:C84728 Giant Axonal Neuropathy semapv:UnspecifiedMatching MONDO:0000128 giant axonal neuropathy skos:exactMatch OMIMPS:256850 semapv:UnspecifiedMatching MONDO:0000128 giant axonal neuropathy skos:exactMatch SCTID:128207002 semapv:UnspecifiedMatching MONDO:0000128 giant axonal neuropathy skos:exactMatch UMLS:C5200933 semapv:UnspecifiedMatching MONDO:0000128 giant axonal neuropathy skos:exactMatch mesh:D056768 semapv:UnspecifiedMatching MONDO:0000129 glutaric aciduria skos:exactMatch SCTID:28987007 semapv:UnspecifiedMatching MONDO:0000129 glutaric aciduria skos:exactMatch UMLS:C0268594 semapv:UnspecifiedMatching MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:UnspecifiedMatching MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch OMIMPS:242860 semapv:UnspecifiedMatching MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch Orphanet:2268 ICF syndrome semapv:UnspecifiedMatching MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch SCTID:234633000 semapv:UnspecifiedMatching MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch UMLS:C0398788 semapv:UnspecifiedMatching MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch mesh:C537362 semapv:UnspecifiedMatching MONDO:0000136 keratosis follicularis spinulosa decalvans skos:exactMatch DOID:0080753 keratosis follicularis spinulosa decalvans semapv:UnspecifiedMatching MONDO:0000136 keratosis follicularis spinulosa decalvans skos:exactMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:UnspecifiedMatching MONDO:0000136 keratosis follicularis spinulosa decalvans skos:exactMatch SCTID:238626006 semapv:UnspecifiedMatching MONDO:0000137 leukoencephalopathy, megalencephalic skos:exactMatch OMIMPS:604004 semapv:UnspecifiedMatching MONDO:0000138 metaphyseal chondrodysplasia skos:exactMatch SCTID:28681006 semapv:UnspecifiedMatching MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch DOID:0080688 mosaic variegated aneuploidy syndrome semapv:UnspecifiedMatching MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:UnspecifiedMatching MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch OMIMPS:257300 semapv:UnspecifiedMatching MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:UnspecifiedMatching MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch SCTID:700056005 semapv:UnspecifiedMatching MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch UMLS:C4551972 semapv:UnspecifiedMatching MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch mesh:C536987 semapv:UnspecifiedMatching MONDO:0000147 polyposis skos:exactMatch NCIT:C4089 Polyposis semapv:UnspecifiedMatching MONDO:0000147 polyposis skos:exactMatch UMLS:C0334108 semapv:UnspecifiedMatching MONDO:0000148 pulmonary fibrosis and/or bone marrow failure, telomere-related skos:exactMatch OMIMPS:614742 semapv:UnspecifiedMatching MONDO:0000148 pulmonary fibrosis and/or bone marrow failure, telomere-related skos:exactMatch UMLS:CN262497 semapv:UnspecifiedMatching MONDO:0000151 symphalangism skos:exactMatch SCTID:253975004 semapv:UnspecifiedMatching MONDO:0000152 thiamine-responsive dysfunction syndrome skos:exactMatch OMIMPS:249270 semapv:UnspecifiedMatching MONDO:0000153 transposition of the great arteries skos:exactMatch NCIT:C84742 Transposition of Great Vessels semapv:UnspecifiedMatching MONDO:0000153 transposition of the great arteries skos:exactMatch Orphanet:216675 Transposition of the great arteries semapv:UnspecifiedMatching MONDO:0000153 transposition of the great arteries skos:exactMatch mesh:D014188 semapv:UnspecifiedMatching MONDO:0000156 trigonocephaly skos:exactMatch SCTID:28740008 semapv:UnspecifiedMatching MONDO:0000158 developmental dysplasia of the hip skos:exactMatch OMIMPS:142700 semapv:UnspecifiedMatching MONDO:0000158 developmental dysplasia of the hip skos:exactMatch SCTID:52781008 semapv:UnspecifiedMatching MONDO:0000158 developmental dysplasia of the hip skos:exactMatch UMLS:C4551649 semapv:UnspecifiedMatching MONDO:0000158 developmental dysplasia of the hip skos:exactMatch mesh:D000082602 semapv:UnspecifiedMatching MONDO:0000159 bone marrow failure syndrome skos:exactMatch NCIT:C165614 Bone Marrow Failure Syndrome semapv:UnspecifiedMatching MONDO:0000159 bone marrow failure syndrome skos:exactMatch OMIMPS:614675 semapv:UnspecifiedMatching MONDO:0000159 bone marrow failure syndrome skos:exactMatch UMLS:C2931245 semapv:UnspecifiedMatching MONDO:0000159 bone marrow failure syndrome skos:exactMatch mesh:C536572 semapv:UnspecifiedMatching MONDO:0000160 epilepsy, familial adult myoclonic skos:exactMatch DOID:0111689 familial adult myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0000160 epilepsy, familial adult myoclonic skos:exactMatch OMIMPS:601068 semapv:UnspecifiedMatching MONDO:0000161 obsolete adrenal hyperplasia skos:exactMatch UMLS:C1621895 semapv:UnspecifiedMatching MONDO:0000166 encephalopathy, acute, infection-induced skos:exactMatch OMIMPS:610551 semapv:UnspecifiedMatching MONDO:0000166 encephalopathy, acute, infection-induced skos:exactMatch UMLS:CN236791 semapv:UnspecifiedMatching MONDO:0000169 microphthalmia, isolated, with cataract skos:exactMatch OMIMPS:156850 semapv:UnspecifiedMatching MONDO:0000170 microphthalmia, isolated, with coloboma skos:exactMatch OMIMPS:300345 semapv:UnspecifiedMatching MONDO:0000170 microphthalmia, isolated, with coloboma skos:exactMatch Orphanet:98938 Colobomatous microphthalmia semapv:UnspecifiedMatching MONDO:0000170 microphthalmia, isolated, with coloboma skos:exactMatch UMLS:C2931500 semapv:UnspecifiedMatching MONDO:0000170 microphthalmia, isolated, with coloboma skos:exactMatch mesh:C537463 semapv:UnspecifiedMatching MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch DOID:0050560 Walker-Warburg syndrome semapv:UnspecifiedMatching MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch NCIT:C99109 Walker-Warburg Syndrome semapv:UnspecifiedMatching MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch OMIMPS:236670 semapv:UnspecifiedMatching MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch Orphanet:899 Walker-Warburg syndrome semapv:UnspecifiedMatching MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch SCTID:111504002 semapv:UnspecifiedMatching MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch UMLS:C0265221 semapv:UnspecifiedMatching MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch mesh:D058494 semapv:UnspecifiedMatching MONDO:0000172 muscular dystrophy-dystroglycanopathy, type B skos:exactMatch DOID:0112375 muscular dystrophy-dystroglycanopathy type B semapv:UnspecifiedMatching MONDO:0000172 muscular dystrophy-dystroglycanopathy, type B skos:exactMatch OMIMPS:613155 semapv:UnspecifiedMatching MONDO:0000172 muscular dystrophy-dystroglycanopathy, type B skos:exactMatch UMLS:CN228400 semapv:UnspecifiedMatching MONDO:0000173 muscular dystrophy-dystroglycanopathy, type C skos:exactMatch OMIMPS:609308 semapv:UnspecifiedMatching MONDO:0000173 muscular dystrophy-dystroglycanopathy, type C skos:exactMatch UMLS:CN262500 semapv:UnspecifiedMatching MONDO:0000179 Neu-Laxova syndrome skos:exactMatch NCIT:C14089 Nuclear Localization Signal semapv:UnspecifiedMatching MONDO:0000179 Neu-Laxova syndrome skos:exactMatch OMIMPS:256520 semapv:UnspecifiedMatching MONDO:0000179 Neu-Laxova syndrome skos:exactMatch Orphanet:2671 Neu-Laxova syndrome semapv:UnspecifiedMatching MONDO:0000179 Neu-Laxova syndrome skos:exactMatch SCTID:77817004 semapv:UnspecifiedMatching MONDO:0000179 Neu-Laxova syndrome skos:exactMatch UMLS:C0265218 semapv:UnspecifiedMatching MONDO:0000179 Neu-Laxova syndrome skos:exactMatch mesh:C536405 semapv:UnspecifiedMatching MONDO:0000181 microcephaly and chorioretinopathy skos:exactMatch OMIMPS:251270 semapv:UnspecifiedMatching MONDO:0000182 congenital myasthenic syndrome with tubular aggregates skos:exactMatch OMIMPS:610542 semapv:UnspecifiedMatching MONDO:0000182 congenital myasthenic syndrome with tubular aggregates skos:exactMatch UMLS:CN228621 semapv:UnspecifiedMatching MONDO:0000188 GLUT1 deficiency syndrome skos:exactMatch OMIMPS:606777 semapv:UnspecifiedMatching MONDO:0000188 GLUT1 deficiency syndrome skos:exactMatch UMLS:C1847501 semapv:UnspecifiedMatching MONDO:0000190 ventricular fibrillation skos:exactMatch NCIT:C50799 Ventricular Fibrillation semapv:UnspecifiedMatching MONDO:0000190 ventricular fibrillation skos:exactMatch SCTID:71908006 semapv:UnspecifiedMatching MONDO:0000190 ventricular fibrillation skos:exactMatch UMLS:C0042510 semapv:UnspecifiedMatching MONDO:0000190 ventricular fibrillation skos:exactMatch mesh:D014693 semapv:UnspecifiedMatching MONDO:0000192 polyglucosan body myopathy skos:exactMatch OMIMPS:615895 semapv:UnspecifiedMatching MONDO:0000192 polyglucosan body myopathy skos:exactMatch UMLS:CN228160 semapv:UnspecifiedMatching MONDO:0000193 cortisone reductase deficiency skos:exactMatch DOID:0090139 cortisone reductase deficiency semapv:UnspecifiedMatching MONDO:0000193 cortisone reductase deficiency skos:exactMatch OMIMPS:604931 semapv:UnspecifiedMatching MONDO:0000193 cortisone reductase deficiency skos:exactMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:UnspecifiedMatching MONDO:0000193 cortisone reductase deficiency skos:exactMatch SCTID:124138004 semapv:UnspecifiedMatching MONDO:0000193 cortisone reductase deficiency skos:exactMatch UMLS:C1291245 semapv:UnspecifiedMatching MONDO:0000193 cortisone reductase deficiency skos:exactMatch mesh:C536447 semapv:UnspecifiedMatching MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch OMIMPS:135500 semapv:UnspecifiedMatching MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:UnspecifiedMatching MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch SCTID:699447001 semapv:UnspecifiedMatching MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch UMLS:C0796013 semapv:UnspecifiedMatching MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch mesh:C536725 semapv:UnspecifiedMatching MONDO:0000204 obsolete skin creases, congenital symmetric circumferential skos:exactMatch OMIMPS:156610 semapv:UnspecifiedMatching MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 skos:exactMatch OMIM:616033 microcephaly, short stature, and impaired glucose metabolism 1 semapv:UnspecifiedMatching MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 skos:exactMatch UMLS:C4014997 semapv:UnspecifiedMatching MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures skos:exactMatch OMIMPS:616866 semapv:UnspecifiedMatching MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures skos:exactMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:UnspecifiedMatching MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures skos:exactMatch UMLS:C5567518 semapv:UnspecifiedMatching MONDO:0000210 thiopurine metabolic disease skos:exactMatch OMIMPS:610460 semapv:UnspecifiedMatching MONDO:0000211 striatal degeneration, autosomal dominant skos:exactMatch OMIMPS:609161 semapv:UnspecifiedMatching MONDO:0000211 striatal degeneration, autosomal dominant skos:exactMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:UnspecifiedMatching MONDO:0000211 striatal degeneration, autosomal dominant skos:exactMatch UMLS:C1836694 semapv:UnspecifiedMatching MONDO:0000211 striatal degeneration, autosomal dominant skos:exactMatch mesh:C563783 semapv:UnspecifiedMatching MONDO:0000212 hypercalcemia, infantile skos:exactMatch NCIT:C129734 Autosomal Recessive Infantile Hypercalcemia semapv:UnspecifiedMatching MONDO:0000212 hypercalcemia, infantile skos:exactMatch OMIMPS:143880 semapv:UnspecifiedMatching MONDO:0000212 hypercalcemia, infantile skos:exactMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:UnspecifiedMatching MONDO:0000212 hypercalcemia, infantile skos:exactMatch SCTID:276645004 semapv:UnspecifiedMatching MONDO:0000212 hypercalcemia, infantile skos:exactMatch SCTID:34225008 semapv:UnspecifiedMatching MONDO:0000212 hypercalcemia, infantile skos:exactMatch UMLS:C4329374 semapv:UnspecifiedMatching MONDO:0000212 hypercalcemia, infantile skos:exactMatch mesh:C562999 semapv:UnspecifiedMatching MONDO:0000213 autoimmune disease, multisystem, infantile-onset skos:exactMatch OMIMPS:615952 semapv:UnspecifiedMatching MONDO:0000213 autoimmune disease, multisystem, infantile-onset skos:exactMatch UMLS:CN238808 semapv:UnspecifiedMatching MONDO:0000214 hypermanganesemia with dystonia skos:exactMatch DOID:0080535 hypermanganesemia with dystonia semapv:UnspecifiedMatching MONDO:0000214 hypermanganesemia with dystonia skos:exactMatch OMIMPS:613280 semapv:UnspecifiedMatching MONDO:0000214 hypermanganesemia with dystonia skos:exactMatch SCTID:768553002 semapv:UnspecifiedMatching MONDO:0000218 obsolete preimplantation embryonic lethality skos:exactMatch OMIMPS:616814 semapv:UnspecifiedMatching MONDO:0000218 obsolete preimplantation embryonic lethality skos:exactMatch UMLS:CN282827 semapv:UnspecifiedMatching MONDO:0000222 seminal vesicle acute gonorrhea skos:exactMatch DOID:0050004 seminal vesicle acute gonorrhea semapv:UnspecifiedMatching MONDO:0000222 seminal vesicle acute gonorrhea skos:exactMatch SCTID:65049003 semapv:UnspecifiedMatching MONDO:0000222 seminal vesicle acute gonorrhea skos:exactMatch UMLS:C0153194 semapv:UnspecifiedMatching MONDO:0000225 human monocytic ehrlichiosis skos:exactMatch DOID:0050026 human monocytic ehrlichiosis semapv:UnspecifiedMatching MONDO:0000225 human monocytic ehrlichiosis skos:exactMatch SCTID:359747000 semapv:UnspecifiedMatching MONDO:0000226 mineral metabolism disease skos:exactMatch ICD10CM:E83 Disorders of mineral metabolism semapv:UnspecifiedMatching MONDO:0000226 mineral metabolism disease skos:exactMatch SCTID:45744005 semapv:UnspecifiedMatching MONDO:0000227 African tick-bite fever skos:exactMatch DOID:0050035 African tick-bite fever semapv:UnspecifiedMatching MONDO:0000227 African tick-bite fever skos:exactMatch SCTID:415561000 semapv:UnspecifiedMatching MONDO:0000227 African tick-bite fever skos:exactMatch UMLS:C1320317 semapv:UnspecifiedMatching MONDO:0000229 Indian tick typhus skos:exactMatch DOID:0050042 Indian tick typhus semapv:UnspecifiedMatching MONDO:0000230 Israeli tick typhus skos:exactMatch DOID:0050043 Israeli tick typhus semapv:UnspecifiedMatching MONDO:0000231 Far eastern spotted fever skos:exactMatch DOID:0050046 Far Eastern spotted fever semapv:UnspecifiedMatching MONDO:0000231 Far eastern spotted fever skos:exactMatch SCTID:472822008 semapv:UnspecifiedMatching MONDO:0000231 Far eastern spotted fever skos:exactMatch UMLS:C3532354 semapv:UnspecifiedMatching MONDO:0000232 Flinders island spotted fever skos:exactMatch DOID:0050047 Flinders Island spotted fever semapv:UnspecifiedMatching MONDO:0000232 Flinders island spotted fever skos:exactMatch UMLS:C4505102 semapv:UnspecifiedMatching MONDO:0000233 Japanese spotted fever skos:exactMatch DOID:0050050 Japanese spotted fever semapv:UnspecifiedMatching MONDO:0000233 Japanese spotted fever skos:exactMatch UMLS:C2108396 semapv:UnspecifiedMatching MONDO:0000234 Rickettsia parkeri spotted fever skos:exactMatch DOID:0050051 Rickettsia parkeri spotted fever semapv:UnspecifiedMatching MONDO:0000236 oropharyngeal anthrax skos:exactMatch DOID:0050059 oropharyngeal anthrax semapv:UnspecifiedMatching MONDO:0000238 obsolete pestis minor skos:exactMatch DOID:0050068 obsolete pestis minor semapv:UnspecifiedMatching MONDO:0000238 obsolete pestis minor skos:exactMatch SCTID:186287003 semapv:UnspecifiedMatching MONDO:0000238 obsolete pestis minor skos:exactMatch UMLS:C0275757 semapv:UnspecifiedMatching MONDO:0000239 adiaspiromycosis skos:exactMatch DOID:0050072 adiaspiromycosis semapv:UnspecifiedMatching MONDO:0000239 adiaspiromycosis skos:exactMatch SCTID:23892008 semapv:UnspecifiedMatching MONDO:0000239 adiaspiromycosis skos:exactMatch UMLS:C0259737 semapv:UnspecifiedMatching MONDO:0000239 adiaspiromycosis skos:exactMatch mesh:C000656784 semapv:UnspecifiedMatching MONDO:0000240 invasive aspergillosis skos:exactMatch DOID:0050073 invasive aspergillosis semapv:UnspecifiedMatching MONDO:0000240 invasive aspergillosis skos:exactMatch SCTID:721798004 semapv:UnspecifiedMatching MONDO:0000240 invasive aspergillosis skos:exactMatch UMLS:C0238013 semapv:UnspecifiedMatching MONDO:0000241 Keshan disease skos:exactMatch DOID:0050083 Keshan disease semapv:UnspecifiedMatching MONDO:0000241 Keshan disease skos:exactMatch SCTID:46939000 semapv:UnspecifiedMatching MONDO:0000241 Keshan disease skos:exactMatch UMLS:C0268095 semapv:UnspecifiedMatching MONDO:0000241 Keshan disease skos:exactMatch mesh:C536166 semapv:UnspecifiedMatching MONDO:0000242 tinea barbae skos:exactMatch DOID:0050096 tinea barbae semapv:UnspecifiedMatching MONDO:0000242 tinea barbae skos:exactMatch SCTID:399329002 semapv:UnspecifiedMatching MONDO:0000242 tinea barbae skos:exactMatch UMLS:C2349994 semapv:UnspecifiedMatching MONDO:0000242 tinea barbae skos:exactMatch mesh:C000656825 semapv:UnspecifiedMatching MONDO:0000243 ectothrix infectious disease skos:exactMatch DOID:0050097 ectothrix infectious disease semapv:UnspecifiedMatching MONDO:0000244 endothrix infectious disease skos:exactMatch DOID:0050105 endothrix infectious disease semapv:UnspecifiedMatching MONDO:0000245 tinea imbricata skos:exactMatch DOID:0050116 tinea imbricata semapv:UnspecifiedMatching MONDO:0000245 tinea imbricata skos:exactMatch ICD10CM:B35.5 Tinea imbricata semapv:UnspecifiedMatching MONDO:0000245 tinea imbricata skos:exactMatch SCTID:240699006 semapv:UnspecifiedMatching MONDO:0000245 tinea imbricata skos:exactMatch UMLS:C0040255 semapv:UnspecifiedMatching MONDO:0000248 dengue shock syndrome skos:exactMatch DOID:0050125 dengue shock syndrome semapv:UnspecifiedMatching MONDO:0000248 dengue shock syndrome skos:exactMatch SCTID:409671005 semapv:UnspecifiedMatching MONDO:0000248 dengue shock syndrome skos:exactMatch UMLS:C0376300 semapv:UnspecifiedMatching MONDO:0000248 dengue shock syndrome skos:exactMatch mesh:D019595 semapv:UnspecifiedMatching MONDO:0000249 secretory diarrhea skos:exactMatch DOID:0050129 secretory diarrhea semapv:UnspecifiedMatching MONDO:0000249 secretory diarrhea skos:exactMatch SCTID:15699003 semapv:UnspecifiedMatching MONDO:0000249 secretory diarrhea skos:exactMatch UMLS:C0267557 semapv:UnspecifiedMatching MONDO:0000250 osmotic diarrheal disease skos:exactMatch DOID:0050130 osmotic diarrhea semapv:UnspecifiedMatching MONDO:0000250 osmotic diarrheal disease skos:exactMatch SCTID:2946003 semapv:UnspecifiedMatching MONDO:0000250 osmotic diarrheal disease skos:exactMatch UMLS:C0267556 semapv:UnspecifiedMatching MONDO:0000252 inflammatory diarrhea skos:exactMatch DOID:0050132 inflammatory diarrhea semapv:UnspecifiedMatching MONDO:0000252 inflammatory diarrhea skos:exactMatch SCTID:95544006 semapv:UnspecifiedMatching MONDO:0000253 piedra skos:exactMatch SCTID:402135006 semapv:UnspecifiedMatching MONDO:0000253 piedra skos:exactMatch UMLS:C0031898 semapv:UnspecifiedMatching MONDO:0000253 piedra skos:exactMatch mesh:D010854 semapv:UnspecifiedMatching MONDO:0000254 cutaneous mycosis skos:exactMatch DOID:0050134 cutaneous mycosis semapv:UnspecifiedMatching MONDO:0000254 cutaneous mycosis skos:exactMatch SCTID:14560005 semapv:UnspecifiedMatching MONDO:0000255 subcutaneous mycosis skos:exactMatch DOID:0050135 subcutaneous mycosis semapv:UnspecifiedMatching MONDO:0000256 systemic mycosis skos:exactMatch DOID:0050136 systemic mycosis semapv:UnspecifiedMatching MONDO:0000256 systemic mycosis skos:exactMatch SCTID:399314004 semapv:UnspecifiedMatching MONDO:0000256 systemic mycosis skos:exactMatch UMLS:C0553576 semapv:UnspecifiedMatching MONDO:0000257 acute diarrhea skos:exactMatch DOID:0050140 acute diarrhea semapv:UnspecifiedMatching MONDO:0000257 acute diarrhea skos:exactMatch SCTID:409966000 semapv:UnspecifiedMatching MONDO:0000257 acute diarrhea skos:exactMatch UMLS:C0740441 semapv:UnspecifiedMatching MONDO:0000259 asymptomatic dengue skos:exactMatch DOID:0050143 asymptomatic dengue semapv:UnspecifiedMatching MONDO:0000261 adenoiditis skos:exactMatch DOID:0050145 adenoiditis semapv:UnspecifiedMatching MONDO:0000261 adenoiditis skos:exactMatch ICD10CM:J35.02 Chronic adenoiditis semapv:UnspecifiedMatching MONDO:0000261 adenoiditis skos:exactMatch SCTID:70020005 semapv:UnspecifiedMatching MONDO:0000261 adenoiditis skos:exactMatch UMLS:C0001427 semapv:UnspecifiedMatching MONDO:0000262 otomycosis skos:exactMatch DOID:0050147 otomycosis semapv:UnspecifiedMatching MONDO:0000262 otomycosis skos:exactMatch SCTID:53316003 semapv:UnspecifiedMatching MONDO:0000262 otomycosis skos:exactMatch UMLS:C0029895 semapv:UnspecifiedMatching MONDO:0000262 otomycosis skos:exactMatch mesh:D059249 semapv:UnspecifiedMatching MONDO:0000263 laryngotracheitis skos:exactMatch DOID:0050148 laryngotracheitis semapv:UnspecifiedMatching MONDO:0000263 laryngotracheitis skos:exactMatch SCTID:55130001 semapv:UnspecifiedMatching MONDO:0000263 laryngotracheitis skos:exactMatch UMLS:C0023076 semapv:UnspecifiedMatching MONDO:0000265 aspiration pneumonia skos:exactMatch DOID:0050152 aspiration pneumonia semapv:UnspecifiedMatching MONDO:0000265 aspiration pneumonia skos:exactMatch SCTID:422588002 semapv:UnspecifiedMatching MONDO:0000265 aspiration pneumonia skos:exactMatch UMLS:C0032290 semapv:UnspecifiedMatching MONDO:0000265 aspiration pneumonia skos:exactMatch mesh:D011015 semapv:UnspecifiedMatching MONDO:0000266 pulmonary aspergilloma skos:exactMatch DOID:0050153 pulmonary aspergilloma semapv:UnspecifiedMatching MONDO:0000266 pulmonary aspergilloma skos:exactMatch UMLS:C2350529 semapv:UnspecifiedMatching MONDO:0000266 pulmonary aspergilloma skos:exactMatch mesh:D055732 semapv:UnspecifiedMatching MONDO:0000270 lower respiratory tract disorder skos:exactMatch DOID:0050161 lower respiratory tract disease semapv:UnspecifiedMatching MONDO:0000270 lower respiratory tract disorder skos:exactMatch SCTID:128272009 semapv:UnspecifiedMatching MONDO:0000270 lower respiratory tract disorder skos:exactMatch UMLS:C1290325 semapv:UnspecifiedMatching MONDO:0000271 tuberculous salpingitis skos:exactMatch DOID:0050166 tuberculous salpingitis semapv:UnspecifiedMatching MONDO:0000271 tuberculous salpingitis skos:exactMatch SCTID:49558004 semapv:UnspecifiedMatching MONDO:0000271 tuberculous salpingitis skos:exactMatch UMLS:C0275933 semapv:UnspecifiedMatching MONDO:0000273 Kunjin virus infectous disease skos:exactMatch DOID:0050174 Kunjin encephalitis semapv:UnspecifiedMatching MONDO:0000275 obsolete monogenic disease skos:exactMatch DOID:0050177 monogenic disease semapv:UnspecifiedMatching MONDO:0000276 Powassan encephalitis skos:exactMatch DOID:0050179 Powassan encephalitis semapv:UnspecifiedMatching MONDO:0000276 Powassan encephalitis skos:exactMatch SCTID:416707008 semapv:UnspecifiedMatching MONDO:0000276 Powassan encephalitis skos:exactMatch UMLS:C0032858 semapv:UnspecifiedMatching MONDO:0000282 Whitewater Arroyo hemorrhagic fever skos:exactMatch DOID:0050199 Whitewater Arroyo hemorrhagic fever semapv:UnspecifiedMatching MONDO:0000283 Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type skos:exactMatch DOID:0050200 Korean hemorrhagic fever semapv:UnspecifiedMatching MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type skos:exactMatch DOID:0050201 nephropathia epidemica semapv:UnspecifiedMatching MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type skos:exactMatch UMLS:C0242993 semapv:UnspecifiedMatching MONDO:0000286 Epstein-Barr virus hepatitis skos:exactMatch DOID:0050204 Epstein-Barr virus hepatitis semapv:UnspecifiedMatching MONDO:0000286 Epstein-Barr virus hepatitis skos:exactMatch SCTID:302919001 semapv:UnspecifiedMatching MONDO:0000286 Epstein-Barr virus hepatitis skos:exactMatch UMLS:C0554114 semapv:UnspecifiedMatching MONDO:0000288 polycystic echinococcosis skos:exactMatch DOID:0050218 polycystic echinococcosis semapv:UnspecifiedMatching MONDO:0000290 primary amebic meningoencephalitis skos:exactMatch DOID:0050242 primary amebic meningoencephalitis semapv:UnspecifiedMatching MONDO:0000290 primary amebic meningoencephalitis skos:exactMatch SCTID:721816008 semapv:UnspecifiedMatching MONDO:0000290 primary amebic meningoencephalitis skos:exactMatch mesh:C535275 semapv:UnspecifiedMatching MONDO:0000291 granulomatous amebic encephalitis skos:exactMatch DOID:0050246 granulomatous amebic encephalitis semapv:UnspecifiedMatching MONDO:0000291 granulomatous amebic encephalitis skos:exactMatch SCTID:230187000 semapv:UnspecifiedMatching MONDO:0000291 granulomatous amebic encephalitis skos:exactMatch UMLS:C0338428 semapv:UnspecifiedMatching MONDO:0000292 philophthalmiasis skos:exactMatch DOID:0050250 philophthalmiasis semapv:UnspecifiedMatching MONDO:0000293 coenurosis skos:exactMatch DOID:0050251 coenurosis semapv:UnspecifiedMatching MONDO:0000293 coenurosis skos:exactMatch SCTID:24360007 semapv:UnspecifiedMatching MONDO:0000293 coenurosis skos:exactMatch UMLS:C0009225 semapv:UnspecifiedMatching MONDO:0000294 mesocestoidiasis skos:exactMatch DOID:0050253 mesocestoidiasis semapv:UnspecifiedMatching MONDO:0000294 mesocestoidiasis skos:exactMatch SCTID:85750001 semapv:UnspecifiedMatching MONDO:0000294 mesocestoidiasis skos:exactMatch UMLS:C0277108 semapv:UnspecifiedMatching MONDO:0000295 acanthocephaliasis skos:exactMatch DOID:0050254 acanthocephaliasis semapv:UnspecifiedMatching MONDO:0000295 acanthocephaliasis skos:exactMatch SCTID:105713003 semapv:UnspecifiedMatching MONDO:0000295 acanthocephaliasis skos:exactMatch UMLS:C0277331 semapv:UnspecifiedMatching MONDO:0000297 baylisascariasis skos:exactMatch DOID:0050259 baylisascariasis semapv:UnspecifiedMatching MONDO:0000297 baylisascariasis skos:exactMatch NCIT:C128397 Baylisascariasis semapv:UnspecifiedMatching MONDO:0000297 baylisascariasis skos:exactMatch UMLS:C0162626 semapv:UnspecifiedMatching MONDO:0000297 baylisascariasis skos:exactMatch UMLS:C0277150 semapv:UnspecifiedMatching MONDO:0000298 dioctophymiasis skos:exactMatch DOID:0050260 dioctophymiasis semapv:UnspecifiedMatching MONDO:0000298 dioctophymiasis skos:exactMatch SCTID:40410004 semapv:UnspecifiedMatching MONDO:0000298 dioctophymiasis skos:exactMatch UMLS:C0012482 semapv:UnspecifiedMatching MONDO:0000299 thelaziasis skos:exactMatch DOID:0050261 thelaziasis semapv:UnspecifiedMatching MONDO:0000299 thelaziasis skos:exactMatch SCTID:46477004 semapv:UnspecifiedMatching MONDO:0000299 thelaziasis skos:exactMatch UMLS:C0344058 semapv:UnspecifiedMatching MONDO:0000301 ophthalmomyiasis skos:exactMatch DOID:0050268 ophthalmomyiasis semapv:UnspecifiedMatching MONDO:0000301 ophthalmomyiasis skos:exactMatch SCTID:48216006 semapv:UnspecifiedMatching MONDO:0000301 ophthalmomyiasis skos:exactMatch UMLS:C0027034 semapv:UnspecifiedMatching MONDO:0000302 basidiobolomycosis skos:exactMatch DOID:0050278 basidiobolomycosis semapv:UnspecifiedMatching MONDO:0000302 basidiobolomycosis skos:exactMatch SCTID:4921002 semapv:UnspecifiedMatching MONDO:0000302 basidiobolomycosis skos:exactMatch UMLS:C0343965 semapv:UnspecifiedMatching MONDO:0000303 conidiobolomycosis skos:exactMatch DOID:0050279 conidiobolomycosis semapv:UnspecifiedMatching MONDO:0000303 conidiobolomycosis skos:exactMatch SCTID:240783007 semapv:UnspecifiedMatching MONDO:0000303 conidiobolomycosis skos:exactMatch UMLS:C0276712 semapv:UnspecifiedMatching MONDO:0000304 penicilliosis skos:exactMatch DOID:0050288 penicilliosis semapv:UnspecifiedMatching MONDO:0000304 penicilliosis skos:exactMatch SCTID:372936000 semapv:UnspecifiedMatching MONDO:0000304 penicilliosis skos:exactMatch SCTID:713315007 semapv:UnspecifiedMatching MONDO:0000304 penicilliosis skos:exactMatch UMLS:C1274008 semapv:UnspecifiedMatching MONDO:0000306 trichosporonosis skos:exactMatch DOID:0050290 trichosporonosis semapv:UnspecifiedMatching MONDO:0000306 trichosporonosis skos:exactMatch SCTID:240761008 semapv:UnspecifiedMatching MONDO:0000306 trichosporonosis skos:exactMatch UMLS:C0343939 semapv:UnspecifiedMatching MONDO:0000306 trichosporonosis skos:exactMatch mesh:D060586 semapv:UnspecifiedMatching MONDO:0000307 parasitic Ichthyosporea infectious disease skos:exactMatch DOID:0050291 parasitic Ichthyosporea infectious disease semapv:UnspecifiedMatching MONDO:0000308 primary systemic mycosis skos:exactMatch DOID:0050292 primary systemic mycosis semapv:UnspecifiedMatching MONDO:0000309 aniseikonia skos:exactMatch DOID:0050304 aniseikonia semapv:UnspecifiedMatching MONDO:0000309 aniseikonia skos:exactMatch ICD10CM:H52.32 Aniseikonia semapv:UnspecifiedMatching MONDO:0000309 aniseikonia skos:exactMatch SCTID:16059006 semapv:UnspecifiedMatching MONDO:0000309 aniseikonia skos:exactMatch mesh:D000839 semapv:UnspecifiedMatching MONDO:0000310 Alkhurma hemorrhagic fever skos:exactMatch DOID:0050308 Alkhurma hemorrhagic fever semapv:UnspecifiedMatching MONDO:0000313 hypophosphatemia skos:exactMatch DOID:0050336 hypophosphatemia semapv:UnspecifiedMatching MONDO:0000313 hypophosphatemia skos:exactMatch NCIT:C37977 Hypophosphatemia semapv:UnspecifiedMatching MONDO:0000313 hypophosphatemia skos:exactMatch SCTID:4996001 semapv:UnspecifiedMatching MONDO:0000313 hypophosphatemia skos:exactMatch UMLS:C0085682 semapv:UnspecifiedMatching MONDO:0000313 hypophosphatemia skos:exactMatch mesh:D017674 semapv:UnspecifiedMatching MONDO:0000314 primary bacterial infectious disease skos:exactMatch DOID:0050338 primary bacterial infectious disease semapv:UnspecifiedMatching MONDO:0000315 commensal bacterial infectious disease skos:exactMatch DOID:0050339 commensal bacterial infectious disease semapv:UnspecifiedMatching MONDO:0000316 opportunistic bacterial infectious disease skos:exactMatch DOID:0050340 opportunistic bacterial infectious disease semapv:UnspecifiedMatching MONDO:0000320 glandular tularemia skos:exactMatch DOID:0050382 glandular tularemia semapv:UnspecifiedMatching MONDO:0000320 glandular tularemia skos:exactMatch SCTID:21857006 semapv:UnspecifiedMatching MONDO:0000320 glandular tularemia skos:exactMatch UMLS:C0275974 semapv:UnspecifiedMatching MONDO:0000321 typhoidal tularemia skos:exactMatch DOID:0050383 typhoidal tularemia semapv:UnspecifiedMatching MONDO:0000321 typhoidal tularemia skos:exactMatch SCTID:398554008 semapv:UnspecifiedMatching MONDO:0000321 typhoidal tularemia skos:exactMatch UMLS:C0473876 semapv:UnspecifiedMatching MONDO:0000327 Buruli ulcer disease skos:exactMatch DOID:0050456 Buruli ulcer disease semapv:UnspecifiedMatching MONDO:0000327 Buruli ulcer disease skos:exactMatch NCIT:C84604 Buruli Ulcer semapv:UnspecifiedMatching MONDO:0000327 Buruli ulcer disease skos:exactMatch SCTID:15845006 semapv:UnspecifiedMatching MONDO:0000327 Buruli ulcer disease skos:exactMatch UMLS:C0085568 semapv:UnspecifiedMatching MONDO:0000327 Buruli ulcer disease skos:exactMatch mesh:D054312 semapv:UnspecifiedMatching MONDO:0000328 hyperphosphatemia skos:exactMatch DOID:0050459 hyperphosphatemia semapv:UnspecifiedMatching MONDO:0000328 hyperphosphatemia skos:exactMatch SCTID:20165001 semapv:UnspecifiedMatching MONDO:0000328 hyperphosphatemia skos:exactMatch UMLS:C0085681 semapv:UnspecifiedMatching MONDO:0000328 hyperphosphatemia skos:exactMatch mesh:D054559 semapv:UnspecifiedMatching MONDO:0000330 endemic typhus skos:exactMatch DOID:0050481 endemic typhus semapv:UnspecifiedMatching MONDO:0000330 endemic typhus skos:exactMatch NCIT:C84688 Endemic Typhus Fever semapv:UnspecifiedMatching MONDO:0000330 endemic typhus skos:exactMatch Orphanet:83315 Murine typhus semapv:UnspecifiedMatching MONDO:0000330 endemic typhus skos:exactMatch UMLS:C0041472 semapv:UnspecifiedMatching MONDO:0000330 endemic typhus skos:exactMatch mesh:D014437 semapv:UnspecifiedMatching MONDO:0000331 Rickettsia helvetica spotted fever skos:exactMatch DOID:0050484 aneruptive fever semapv:UnspecifiedMatching MONDO:0000332 sennetsu fever skos:exactMatch DOID:0050485 sennetsu fever semapv:UnspecifiedMatching MONDO:0000332 sennetsu fever skos:exactMatch SCTID:21013006 semapv:UnspecifiedMatching MONDO:0000332 sennetsu fever skos:exactMatch UMLS:C0520779 semapv:UnspecifiedMatching MONDO:0000332 sennetsu fever skos:exactMatch mesh:C537582 semapv:UnspecifiedMatching MONDO:0000333 early congenital syphilis skos:exactMatch DOID:0050488 early congenital syphilis semapv:UnspecifiedMatching MONDO:0000333 early congenital syphilis skos:exactMatch SCTID:4359001 semapv:UnspecifiedMatching MONDO:0000333 early congenital syphilis skos:exactMatch UMLS:C0275859 semapv:UnspecifiedMatching MONDO:0000334 multinodular goiter skos:exactMatch DOID:0050489 multinodular goiter semapv:UnspecifiedMatching MONDO:0000334 multinodular goiter skos:exactMatch NCIT:C131438 Multinodular Goiter semapv:UnspecifiedMatching MONDO:0000334 multinodular goiter skos:exactMatch OMIMPS:138800 semapv:UnspecifiedMatching MONDO:0000334 multinodular goiter skos:exactMatch SCTID:237570007 semapv:UnspecifiedMatching MONDO:0000334 multinodular goiter skos:exactMatch UMLS:C0342208 semapv:UnspecifiedMatching MONDO:0000335 parenchymatous neurosyphilis skos:exactMatch DOID:0050490 parenchymatous neurosyphilis semapv:UnspecifiedMatching MONDO:0000336 meningovascular neurosyphilis skos:exactMatch DOID:0050491 meningovascular neurosyphilis semapv:UnspecifiedMatching MONDO:0000337 exanthema subitum skos:exactMatch DOID:0050495 exanthema subitum semapv:UnspecifiedMatching MONDO:0000337 exanthema subitum skos:exactMatch NCIT:C128420 Roseola Infantum semapv:UnspecifiedMatching MONDO:0000337 exanthema subitum skos:exactMatch SCTID:54385001 semapv:UnspecifiedMatching MONDO:0000337 exanthema subitum skos:exactMatch UMLS:C0015231 semapv:UnspecifiedMatching MONDO:0000337 exanthema subitum skos:exactMatch mesh:D005077 semapv:UnspecifiedMatching MONDO:0000338 variola major infectious disease skos:exactMatch DOID:0050508 variola major semapv:UnspecifiedMatching MONDO:0000338 variola major infectious disease skos:exactMatch SCTID:47452006 semapv:UnspecifiedMatching MONDO:0000338 variola major infectious disease skos:exactMatch UMLS:C1812609 semapv:UnspecifiedMatching MONDO:0000339 spinal polio skos:exactMatch DOID:0050513 spinal polio semapv:UnspecifiedMatching MONDO:0000340 bulbospinal polio skos:exactMatch DOID:0050514 bulbospinal polio semapv:UnspecifiedMatching MONDO:0000341 paralytic poliomyelitis skos:exactMatch DOID:0050515 paralytic poliomyelitis semapv:UnspecifiedMatching MONDO:0000342 O'nyong'nyong fever skos:exactMatch DOID:0050516 O'nyong'nyong fever semapv:UnspecifiedMatching MONDO:0000342 O'nyong'nyong fever skos:exactMatch ICD10CM:A92.1 O'nyong-nyong fever semapv:UnspecifiedMatching MONDO:0000342 O'nyong'nyong fever skos:exactMatch SCTID:85579005 semapv:UnspecifiedMatching MONDO:0000342 O'nyong'nyong fever skos:exactMatch UMLS:C0276286 semapv:UnspecifiedMatching MONDO:0000343 Barmah forest virus disease skos:exactMatch DOID:0050517 Barmah Forest virus disease semapv:UnspecifiedMatching MONDO:0000344 Ross river fever skos:exactMatch DOID:0050518 Ross River fever semapv:UnspecifiedMatching MONDO:0000344 Ross river fever skos:exactMatch SCTID:602001 semapv:UnspecifiedMatching MONDO:0000345 Oropouche fever skos:exactMatch DOID:0050521 Oropouche fever semapv:UnspecifiedMatching MONDO:0000345 Oropouche fever skos:exactMatch SCTID:72880002 semapv:UnspecifiedMatching MONDO:0000345 Oropouche fever skos:exactMatch UMLS:C0276386 semapv:UnspecifiedMatching MONDO:0000346 Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type skos:exactMatch DOID:0050522 Balkan hemorrhagic fever semapv:UnspecifiedMatching MONDO:0000348 obsolete posterior polar cataract skos:exactMatch DOID:0050537 posterior polar cataract semapv:UnspecifiedMatching MONDO:0000351 disorder of methionine catabolism skos:exactMatch DOID:0050544 hypermethioninemia semapv:UnspecifiedMatching MONDO:0000351 disorder of methionine catabolism skos:exactMatch SCTID:43123004 semapv:UnspecifiedMatching MONDO:0000351 disorder of methionine catabolism skos:exactMatch UMLS:C4048705 semapv:UnspecifiedMatching MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch DOID:0050558 Ullrich congenital muscular dystrophy semapv:UnspecifiedMatching MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch NCIT:C123438 Ullrich Congenital Muscular Dystrophy semapv:UnspecifiedMatching MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch OMIMPS:254090 semapv:UnspecifiedMatching MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch Orphanet:75840 Ullrich congenital muscular dystrophy semapv:UnspecifiedMatching MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch SCTID:240062007 semapv:UnspecifiedMatching MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch UMLS:C4551860 semapv:UnspecifiedMatching MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch mesh:C537521 semapv:UnspecifiedMatching MONDO:0000358 orofacial cleft skos:exactMatch DOID:0050567 orofacial cleft semapv:UnspecifiedMatching MONDO:0000358 orofacial cleft skos:exactMatch OMIMPS:119530 semapv:UnspecifiedMatching MONDO:0000358 orofacial cleft skos:exactMatch SCTID:449790007 semapv:UnspecifiedMatching MONDO:0000358 orofacial cleft skos:exactMatch UMLS:C3266076 semapv:UnspecifiedMatching MONDO:0000359 spondylocostal dysostosis skos:exactMatch DOID:0050568 spondylocostal dysostosis semapv:UnspecifiedMatching MONDO:0000359 spondylocostal dysostosis skos:exactMatch NCIT:C125598 Spondylocostal Dysostosis semapv:UnspecifiedMatching MONDO:0000359 spondylocostal dysostosis skos:exactMatch OMIMPS:277300 semapv:UnspecifiedMatching MONDO:0000359 spondylocostal dysostosis skos:exactMatch UMLS:C0265343 semapv:UnspecifiedMatching MONDO:0000359 spondylocostal dysostosis skos:exactMatch mesh:C537565 semapv:UnspecifiedMatching MONDO:0000363 gummatous syphilis skos:exactMatch DOID:0050584 gummatous syphilis semapv:UnspecifiedMatching MONDO:0000365 primary congenital glaucoma skos:exactMatch DOID:0050593 primary congenital glaucoma semapv:UnspecifiedMatching MONDO:0000365 primary congenital glaucoma skos:exactMatch NCIT:C150251 Primary Congenital Glaucoma semapv:UnspecifiedMatching MONDO:0000365 primary congenital glaucoma skos:exactMatch SCTID:415176004 semapv:UnspecifiedMatching MONDO:0000365 primary congenital glaucoma skos:exactMatch UMLS:C1533041 semapv:UnspecifiedMatching MONDO:0000367 taeniasis skos:exactMatch DOID:0050596 taeniasis semapv:UnspecifiedMatching MONDO:0000367 taeniasis skos:exactMatch ICD10CM:B68 Taeniasis semapv:UnspecifiedMatching MONDO:0000367 taeniasis skos:exactMatch NCIT:C85180 Taeniasis semapv:UnspecifiedMatching MONDO:0000367 taeniasis skos:exactMatch SCTID:69163003 semapv:UnspecifiedMatching MONDO:0000367 taeniasis skos:exactMatch UMLS:C0039254 semapv:UnspecifiedMatching MONDO:0000367 taeniasis skos:exactMatch mesh:D013622 semapv:UnspecifiedMatching MONDO:0000368 extrapulmonary tuberculosis skos:exactMatch DOID:0050598 extrapulmonary tuberculosis semapv:UnspecifiedMatching MONDO:0000368 extrapulmonary tuberculosis skos:exactMatch SCTID:423997002 semapv:UnspecifiedMatching MONDO:0000368 extrapulmonary tuberculosis skos:exactMatch UMLS:C0679362 semapv:UnspecifiedMatching MONDO:0000369 abdominal tuberculosis skos:exactMatch DOID:0050599 abdominal tuberculosis semapv:UnspecifiedMatching MONDO:0000369 abdominal tuberculosis skos:exactMatch SCTID:447330002 semapv:UnspecifiedMatching MONDO:0000369 abdominal tuberculosis skos:exactMatch UMLS:C0740652 semapv:UnspecifiedMatching MONDO:0000371 oral cavity carcinoma in situ skos:exactMatch DOID:0050610 oral cavity carcinoma in situ semapv:UnspecifiedMatching MONDO:0000371 oral cavity carcinoma in situ skos:exactMatch NCIT:C4587 Stage 0 Oral Cavity Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0000371 oral cavity carcinoma in situ skos:exactMatch SCTID:92660005 semapv:UnspecifiedMatching MONDO:0000371 oral cavity carcinoma in situ skos:exactMatch UMLS:C0347073 semapv:UnspecifiedMatching MONDO:0000372 pharynx carcinoma in situ skos:exactMatch DOID:0050611 pharynx carcinoma in situ semapv:UnspecifiedMatching MONDO:0000372 pharynx carcinoma in situ skos:exactMatch NCIT:C4942 Stage 0 Pharyngeal Cancer semapv:UnspecifiedMatching MONDO:0000372 pharynx carcinoma in situ skos:exactMatch SCTID:92681005 semapv:UnspecifiedMatching MONDO:0000372 pharynx carcinoma in situ skos:exactMatch UMLS:C0347098 semapv:UnspecifiedMatching MONDO:0000373 gall bladder carcinoma in situ skos:exactMatch DOID:0050612 gallbladder carcinoma in situ semapv:UnspecifiedMatching MONDO:0000374 bile duct carcinoma in situ skos:exactMatch DOID:0050613 bile duct carcinoma in situ semapv:UnspecifiedMatching MONDO:0000375 bronchus carcinoma in situ skos:exactMatch DOID:0050614 bronchus carcinoma in situ semapv:UnspecifiedMatching MONDO:0000375 bronchus carcinoma in situ skos:exactMatch SCTID:92557009 semapv:UnspecifiedMatching MONDO:0000375 bronchus carcinoma in situ skos:exactMatch UMLS:C2939445 semapv:UnspecifiedMatching MONDO:0000376 respiratory system cancer skos:exactMatch DOID:0050615 respiratory system cancer semapv:UnspecifiedMatching MONDO:0000376 respiratory system cancer skos:exactMatch SCTID:449096009 semapv:UnspecifiedMatching MONDO:0000376 respiratory system cancer skos:exactMatch UMLS:C3164456 semapv:UnspecifiedMatching MONDO:0000377 malignant Leydig cell tumor skos:exactMatch NCIT:C4213 Malignant Leydig Cell Tumor semapv:UnspecifiedMatching MONDO:0000377 malignant Leydig cell tumor skos:exactMatch UMLS:C0334410 semapv:UnspecifiedMatching MONDO:0000378 malignant Sertoli cell tumor skos:exactMatch NCIT:C67006 Malignant Sertoli Cell Tumor semapv:UnspecifiedMatching MONDO:0000378 malignant Sertoli cell tumor skos:exactMatch UMLS:C0334406 semapv:UnspecifiedMatching MONDO:0000380 paranasal sinus carcinoma skos:exactMatch DOID:0050619 paranasal sinus cancer semapv:UnspecifiedMatching MONDO:0000380 paranasal sinus carcinoma skos:exactMatch NCIT:C6014 Paranasal Sinus Carcinoma semapv:UnspecifiedMatching MONDO:0000380 paranasal sinus carcinoma skos:exactMatch UMLS:C0854995 semapv:UnspecifiedMatching MONDO:0000381 infiltrating renal pelvis transitional cell carcinoma skos:exactMatch DOID:0050620 infiltrating renal pelvis transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0000382 respiratory system benign neoplasm skos:exactMatch DOID:0050621 respiratory system benign neoplasm semapv:UnspecifiedMatching MONDO:0000382 respiratory system benign neoplasm skos:exactMatch SCTID:255166003 semapv:UnspecifiedMatching MONDO:0000382 respiratory system benign neoplasm skos:exactMatch UMLS:C0497556 semapv:UnspecifiedMatching MONDO:0000383 benign reproductive system neoplasm skos:exactMatch DOID:0050622 reproductive organ benign neoplasm semapv:UnspecifiedMatching MONDO:0000383 benign reproductive system neoplasm skos:exactMatch NCIT:C7617 Benign Reproductive System Neoplasm semapv:UnspecifiedMatching MONDO:0000383 benign reproductive system neoplasm skos:exactMatch UMLS:C1332536 semapv:UnspecifiedMatching MONDO:0000384 bladder benign neoplasm skos:exactMatch DOID:0050623 bladder benign neoplasm semapv:UnspecifiedMatching MONDO:0000384 bladder benign neoplasm skos:exactMatch NCIT:C3618 Benign Bladder Neoplasm semapv:UnspecifiedMatching MONDO:0000384 bladder benign neoplasm skos:exactMatch SCTID:91992005 semapv:UnspecifiedMatching MONDO:0000384 bladder benign neoplasm skos:exactMatch UMLS:C0154017 semapv:UnspecifiedMatching MONDO:0000385 benign digestive system neoplasm skos:exactMatch DOID:0050624 gastrointestinal system benign neoplasm semapv:UnspecifiedMatching MONDO:0000385 benign digestive system neoplasm skos:exactMatch NCIT:C4787 Benign Digestive System Neoplasm semapv:UnspecifiedMatching MONDO:0000385 benign digestive system neoplasm skos:exactMatch UMLS:C0497538 semapv:UnspecifiedMatching MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 skos:exactMatch DOID:0050626 gastrointestinal neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 skos:exactMatch NCIT:C95404 Digestive System Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0000387 hypochromic microcytic anemia skos:exactMatch DOID:0050642 hypochromic microcytic anemia semapv:UnspecifiedMatching MONDO:0000387 hypochromic microcytic anemia skos:exactMatch SCTID:44666001 semapv:UnspecifiedMatching MONDO:0000387 hypochromic microcytic anemia skos:exactMatch UMLS:C0271901 semapv:UnspecifiedMatching MONDO:0000387 hypochromic microcytic anemia skos:exactMatch mesh:C536357 semapv:UnspecifiedMatching MONDO:0000389 atelosteogenesis skos:exactMatch DOID:0050648 atelosteogenesis semapv:UnspecifiedMatching MONDO:0000389 atelosteogenesis skos:exactMatch OMIMPS:108720 semapv:UnspecifiedMatching MONDO:0000389 atelosteogenesis skos:exactMatch SCTID:43814000 semapv:UnspecifiedMatching MONDO:0000389 atelosteogenesis skos:exactMatch UMLS:C5574658 semapv:UnspecifiedMatching MONDO:0000390 vitelliform macular dystrophy skos:exactMatch DOID:0050661 vitelliform macular dystrophy semapv:UnspecifiedMatching MONDO:0000390 vitelliform macular dystrophy skos:exactMatch NCIT:C118788 Vitelliform Macular Dystrophy semapv:UnspecifiedMatching MONDO:0000390 vitelliform macular dystrophy skos:exactMatch OMIMPS:153840 semapv:UnspecifiedMatching MONDO:0000390 vitelliform macular dystrophy skos:exactMatch SCTID:90036004 semapv:UnspecifiedMatching MONDO:0000390 vitelliform macular dystrophy skos:exactMatch UMLS:C0339510 semapv:UnspecifiedMatching MONDO:0000390 vitelliform macular dystrophy skos:exactMatch mesh:D057826 semapv:UnspecifiedMatching MONDO:0000393 partial fetal alcohol syndrome skos:exactMatch DOID:0050666 partial fetal alcohol syndrome semapv:UnspecifiedMatching MONDO:0000393 partial fetal alcohol syndrome skos:exactMatch UMLS:C3661483 semapv:UnspecifiedMatching MONDO:0000395 alcohol-related birth defect skos:exactMatch DOID:0050668 alcohol-related birth defects semapv:UnspecifiedMatching MONDO:0000395 alcohol-related birth defect skos:exactMatch NCIT:C92727 Alcohol Related Birth Defect semapv:UnspecifiedMatching MONDO:0000395 alcohol-related birth defect skos:exactMatch UMLS:C3146244 semapv:UnspecifiedMatching MONDO:0000396 spastic cerebral palsy skos:exactMatch DOID:0050669 spastic cerebral palsy semapv:UnspecifiedMatching MONDO:0000396 spastic cerebral palsy skos:exactMatch NCIT:C116903 Spastic Cerebral Palsy semapv:UnspecifiedMatching MONDO:0000396 spastic cerebral palsy skos:exactMatch SCTID:230773005 semapv:UnspecifiedMatching MONDO:0000396 spastic cerebral palsy skos:exactMatch UMLS:C0338596 semapv:UnspecifiedMatching MONDO:0000397 ataxic cerebral palsy skos:exactMatch DOID:0050670 ataxic cerebral palsy semapv:UnspecifiedMatching MONDO:0000397 ataxic cerebral palsy skos:exactMatch NCIT:C97168 Ataxic Cerebral Palsy semapv:UnspecifiedMatching MONDO:0000397 ataxic cerebral palsy skos:exactMatch SCTID:278512001 semapv:UnspecifiedMatching MONDO:0000397 ataxic cerebral palsy skos:exactMatch UMLS:C0394005 semapv:UnspecifiedMatching MONDO:0000400 mixed cerebral palsy skos:exactMatch DOID:0050673 mixed cerebral palsy semapv:UnspecifiedMatching MONDO:0000400 mixed cerebral palsy skos:exactMatch NCIT:C97177 Mixed Cerebral Palsy semapv:UnspecifiedMatching MONDO:0000400 mixed cerebral palsy skos:exactMatch SCTID:702318008 semapv:UnspecifiedMatching MONDO:0000400 mixed cerebral palsy skos:exactMatch UMLS:C0751024 semapv:UnspecifiedMatching MONDO:0000402 small cell carcinoma skos:exactMatch DOID:0050685 small cell carcinoma semapv:UnspecifiedMatching MONDO:0000402 small cell carcinoma skos:exactMatch NCIT:C3915 Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0000402 small cell carcinoma skos:exactMatch SCTID:11010461000119101 semapv:UnspecifiedMatching MONDO:0000402 small cell carcinoma skos:exactMatch UMLS:C0334239 semapv:UnspecifiedMatching MONDO:0000402 small cell carcinoma skos:exactMatch mesh:D018288 semapv:UnspecifiedMatching MONDO:0000405 anal canal cancer skos:exactMatch DOID:0050688 anal canal cancer semapv:UnspecifiedMatching MONDO:0000405 anal canal cancer skos:exactMatch SCTID:363352004 semapv:UnspecifiedMatching MONDO:0000405 anal canal cancer skos:exactMatch UMLS:C0153445 semapv:UnspecifiedMatching MONDO:0000407 malignant pleural solitary fibrous tumor skos:exactMatch DOID:0050695 malignant pleural solitary fibrous tumor semapv:UnspecifiedMatching MONDO:0000408 fetal alcohol spectrum disorder skos:exactMatch DOID:0050696 fetal alcohol spectrum disorder semapv:UnspecifiedMatching MONDO:0000408 fetal alcohol spectrum disorder skos:exactMatch NCIT:C92780 Fetal Alcohol Spectrum Disorder semapv:UnspecifiedMatching MONDO:0000408 fetal alcohol spectrum disorder skos:exactMatch SCTID:609437000 semapv:UnspecifiedMatching MONDO:0000408 fetal alcohol spectrum disorder skos:exactMatch UMLS:C2985290 semapv:UnspecifiedMatching MONDO:0000408 fetal alcohol spectrum disorder skos:exactMatch mesh:D063647 semapv:UnspecifiedMatching MONDO:0000409 chorioamnionitis skos:exactMatch DOID:0050697 chorioamnionitis semapv:UnspecifiedMatching MONDO:0000409 chorioamnionitis skos:exactMatch NCIT:C26720 Chorioamnionitis semapv:UnspecifiedMatching MONDO:0000409 chorioamnionitis skos:exactMatch SCTID:11612004 semapv:UnspecifiedMatching MONDO:0000409 chorioamnionitis skos:exactMatch mesh:D002821 semapv:UnspecifiedMatching MONDO:0000410 funisitis skos:exactMatch DOID:0050698 funisitis semapv:UnspecifiedMatching MONDO:0000410 funisitis skos:exactMatch NCIT:C97077 Funisitis semapv:UnspecifiedMatching MONDO:0000410 funisitis skos:exactMatch SCTID:396343006 semapv:UnspecifiedMatching MONDO:0000410 funisitis skos:exactMatch UMLS:C1275592 semapv:UnspecifiedMatching MONDO:0000411 electroclinical syndrome skos:exactMatch DOID:0050701 electroclinical syndrome semapv:UnspecifiedMatching MONDO:0000412 neonatal period electroclinical syndrome skos:exactMatch DOID:0050702 neonatal period electroclinical syndrome semapv:UnspecifiedMatching MONDO:0000413 infancy electroclinical syndrome skos:exactMatch DOID:0050703 infancy electroclinical syndrome semapv:UnspecifiedMatching MONDO:0000414 childhood electroclinical syndrome skos:exactMatch DOID:0050704 childhood electroclinical syndrome semapv:UnspecifiedMatching MONDO:0000415 adolescence-adult electroclinical syndrome skos:exactMatch DOID:0050705 adolescence-adult electroclinical syndrome semapv:UnspecifiedMatching MONDO:0000417 early onset absence epilepsy skos:exactMatch DOID:0050708 early onset absence epilepsy semapv:UnspecifiedMatching MONDO:0000421 inborn serine deficiency skos:exactMatch DOID:0050721 serine deficiency semapv:UnspecifiedMatching MONDO:0000424 inborn vitamin B12 deficiency skos:exactMatch DOID:0050731 vitamin B12 deficiency semapv:UnspecifiedMatching MONDO:0000425 X-linked disease skos:exactMatch DOID:0050735 X-linked monogenic disease semapv:UnspecifiedMatching MONDO:0000425 X-linked disease skos:exactMatch NCIT:C85865 X-Linked Inherited Disorder semapv:UnspecifiedMatching MONDO:0000425 X-linked disease skos:exactMatch SCTID:128430005 semapv:UnspecifiedMatching MONDO:0000425 X-linked disease skos:exactMatch UMLS:C1138434 semapv:UnspecifiedMatching MONDO:0000425 X-linked disease skos:exactMatch UMLS:C2828000 semapv:UnspecifiedMatching MONDO:0000425 X-linked disease skos:exactMatch mesh:D040181 semapv:UnspecifiedMatching MONDO:0000426 autosomal dominant disease skos:exactMatch DOID:0050736 autosomal dominant disease semapv:UnspecifiedMatching MONDO:0000426 autosomal dominant disease skos:exactMatch SCTID:11164009 semapv:UnspecifiedMatching MONDO:0000426 autosomal dominant disease skos:exactMatch UMLS:C0265385 semapv:UnspecifiedMatching MONDO:0000428 Y-linked disease skos:exactMatch DOID:0050738 Y-linked monogenic disease semapv:UnspecifiedMatching MONDO:0000428 Y-linked disease skos:exactMatch UMLS:C1563751 semapv:UnspecifiedMatching MONDO:0000428 Y-linked disease skos:exactMatch mesh:D050174 semapv:UnspecifiedMatching MONDO:0000429 autosomal genetic disease skos:exactMatch DOID:0050739 autosomal genetic disease semapv:UnspecifiedMatching MONDO:0000429 autosomal genetic disease skos:exactMatch SCTID:1899006 semapv:UnspecifiedMatching MONDO:0000429 autosomal genetic disease skos:exactMatch UMLS:C0265384 semapv:UnspecifiedMatching MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:exactMatch DOID:0050743 mature T-cell and NK-cell lymphoma semapv:UnspecifiedMatching MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:exactMatch DOID:0050749 peripheral T-cell lymphoma semapv:UnspecifiedMatching MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:exactMatch ICD10CM:C84.4 Peripheral T-cell lymphoma, not classified semapv:UnspecifiedMatching MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:exactMatch NCIT:C3468 Mature T-Cell and NK-Cell Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:exactMatch SCTID:109977009 semapv:UnspecifiedMatching MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:exactMatch mesh:D016411 semapv:UnspecifiedMatching MONDO:0000432 lymphoplasmacytic lymphoma skos:exactMatch NCIT:C3212 Lymphoplasmacytic Lymphoma semapv:UnspecifiedMatching MONDO:0000432 lymphoplasmacytic lymphoma skos:exactMatch UMLS:C0334633 semapv:UnspecifiedMatching MONDO:0000437 cerebellar ataxia skos:exactMatch DOID:0050753 cerebellar ataxia semapv:UnspecifiedMatching MONDO:0000437 cerebellar ataxia skos:exactMatch NCIT:C82341 Spinocerebellar Ataxia semapv:UnspecifiedMatching MONDO:0000437 cerebellar ataxia skos:exactMatch Orphanet:102002 Rare ataxia semapv:UnspecifiedMatching MONDO:0000437 cerebellar ataxia skos:exactMatch SCTID:85102008 semapv:UnspecifiedMatching MONDO:0000437 cerebellar ataxia skos:exactMatch UMLS:C0007758 semapv:UnspecifiedMatching MONDO:0000437 cerebellar ataxia skos:exactMatch mesh:D002524 semapv:UnspecifiedMatching MONDO:0000440 metabolic acidosis skos:exactMatch DOID:0050758 metabolic acidosis semapv:UnspecifiedMatching MONDO:0000440 metabolic acidosis skos:exactMatch SCTID:59455009 semapv:UnspecifiedMatching MONDO:0000446 midface dysplasia skos:exactMatch DOID:0050767 midface dysplasia semapv:UnspecifiedMatching MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch DOID:0050770 polycystic liver disease semapv:UnspecifiedMatching MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch ICD10CM:Q44.6 Cystic disease of liver semapv:UnspecifiedMatching MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch NCIT:C82833 Polycystic Liver Disease semapv:UnspecifiedMatching MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch OMIMPS:174050 semapv:UnspecifiedMatching MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch Orphanet:2924 Isolated polycystic liver disease semapv:UnspecifiedMatching MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch SCTID:72925005 semapv:UnspecifiedMatching MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch UMLS:C0158683 semapv:UnspecifiedMatching MONDO:0000448 paraganglioma skos:exactMatch DOID:0050773 paraganglioma semapv:UnspecifiedMatching MONDO:0000448 paraganglioma skos:exactMatch NCIT:C3308 Paraganglioma semapv:UnspecifiedMatching MONDO:0000448 paraganglioma skos:exactMatch OMIMPS:168000 semapv:UnspecifiedMatching MONDO:0000448 paraganglioma skos:exactMatch SCTID:127027008 semapv:UnspecifiedMatching MONDO:0000448 paraganglioma skos:exactMatch UMLS:C0030421 semapv:UnspecifiedMatching MONDO:0000448 paraganglioma skos:exactMatch mesh:D010235 semapv:UnspecifiedMatching MONDO:0000450 secondary progressive multiple sclerosis skos:exactMatch DOID:0050783 secondary progressive multiple sclerosis semapv:UnspecifiedMatching MONDO:0000450 secondary progressive multiple sclerosis skos:exactMatch SCTID:425500002 semapv:UnspecifiedMatching MONDO:0000450 secondary progressive multiple sclerosis skos:exactMatch UMLS:C0751965 semapv:UnspecifiedMatching MONDO:0000451 primary progressive multiple sclerosis skos:exactMatch DOID:0050784 primary progressive multiple sclerosis semapv:UnspecifiedMatching MONDO:0000451 primary progressive multiple sclerosis skos:exactMatch SCTID:428700003 semapv:UnspecifiedMatching MONDO:0000451 primary progressive multiple sclerosis skos:exactMatch UMLS:C0751964 semapv:UnspecifiedMatching MONDO:0000452 progressive relapsing multiple sclerosis skos:exactMatch DOID:0050785 progressive relapsing multiple sclerosis semapv:UnspecifiedMatching MONDO:0000452 progressive relapsing multiple sclerosis skos:exactMatch SCTID:230374002 semapv:UnspecifiedMatching MONDO:0000452 progressive relapsing multiple sclerosis skos:exactMatch UMLS:C0393666 semapv:UnspecifiedMatching MONDO:0000453 short QT syndrome skos:exactMatch DOID:0050793 short QT syndrome semapv:UnspecifiedMatching MONDO:0000453 short QT syndrome skos:exactMatch NCIT:C71060 Short QT Syndrome semapv:UnspecifiedMatching MONDO:0000453 short QT syndrome skos:exactMatch OMIMPS:609620 semapv:UnspecifiedMatching MONDO:0000453 short QT syndrome skos:exactMatch Orphanet:51083 Familial short QT syndrome semapv:UnspecifiedMatching MONDO:0000453 short QT syndrome skos:exactMatch SCTID:698272007 semapv:UnspecifiedMatching MONDO:0000453 short QT syndrome skos:exactMatch UMLS:C2348199 semapv:UnspecifiedMatching MONDO:0000453 short QT syndrome skos:exactMatch mesh:C580439 semapv:UnspecifiedMatching MONDO:0000455 cone dystrophy skos:exactMatch DOID:0050795 cone dystrophy semapv:UnspecifiedMatching MONDO:0000455 cone dystrophy skos:exactMatch Orphanet:1871 Progressive cone dystrophy semapv:UnspecifiedMatching MONDO:0000455 cone dystrophy skos:exactMatch SCTID:312917007 semapv:UnspecifiedMatching MONDO:0000455 cone dystrophy skos:exactMatch UMLS:C0730290 semapv:UnspecifiedMatching MONDO:0000455 cone dystrophy skos:exactMatch mesh:D000077765 semapv:UnspecifiedMatching MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch DOID:0050798 cerebral creatine deficiency syndrome semapv:UnspecifiedMatching MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch OMIMPS:300352 semapv:UnspecifiedMatching MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch Orphanet:79172 Creatine deficiency syndrome semapv:UnspecifiedMatching MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch UMLS:CN227588 semapv:UnspecifiedMatching MONDO:0000457 classical glioblastoma skos:exactMatch DOID:0050803 glioblastoma classical subtype semapv:UnspecifiedMatching MONDO:0000457 classical glioblastoma skos:exactMatch NCIT:C111694 Classical Glioblastoma semapv:UnspecifiedMatching MONDO:0000457 classical glioblastoma skos:exactMatch UMLS:C3827253 semapv:UnspecifiedMatching MONDO:0000458 proneural glioblastoma skos:exactMatch DOID:0050804 glioblastoma proneural subtype semapv:UnspecifiedMatching MONDO:0000458 proneural glioblastoma skos:exactMatch NCIT:C111692 Proneural Glioblastoma semapv:UnspecifiedMatching MONDO:0000458 proneural glioblastoma skos:exactMatch UMLS:C3828464 semapv:UnspecifiedMatching MONDO:0000459 mesenchymal glioblastoma skos:exactMatch DOID:0050805 glioblastoma mesenchymal subtype semapv:UnspecifiedMatching MONDO:0000459 mesenchymal glioblastoma skos:exactMatch NCIT:C111695 Mesenchymal Glioblastoma semapv:UnspecifiedMatching MONDO:0000459 mesenchymal glioblastoma skos:exactMatch UMLS:C3829122 semapv:UnspecifiedMatching MONDO:0000460 neural glioblastoma skos:exactMatch DOID:0050806 glioblastoma neural subtype semapv:UnspecifiedMatching MONDO:0000460 neural glioblastoma skos:exactMatch NCIT:C111693 Neural Glioblastoma semapv:UnspecifiedMatching MONDO:0000460 neural glioblastoma skos:exactMatch UMLS:C3828832 semapv:UnspecifiedMatching MONDO:0000461 nutritional biotin deficiency skos:exactMatch DOID:0050810 biotin deficiency semapv:UnspecifiedMatching MONDO:0000461 nutritional biotin deficiency skos:exactMatch SCTID:49607006 semapv:UnspecifiedMatching MONDO:0000461 nutritional biotin deficiency skos:exactMatch mesh:C531633 semapv:UnspecifiedMatching MONDO:0000462 eye adnexa disorder skos:exactMatch ICD10WHO:H00-H06 Disorders of eyelid, lacrimal system and orbit semapv:UnspecifiedMatching MONDO:0000462 eye adnexa disorder skos:exactMatch SCTID:118941004 semapv:UnspecifiedMatching MONDO:0000462 eye adnexa disorder skos:exactMatch UMLS:C1290855 semapv:UnspecifiedMatching MONDO:0000463 Ochoa syndrome skos:exactMatch DOID:0050816 urofacial syndrome semapv:UnspecifiedMatching MONDO:0000463 Ochoa syndrome skos:exactMatch OMIMPS:236730 semapv:UnspecifiedMatching MONDO:0000463 Ochoa syndrome skos:exactMatch Orphanet:2704 Ochoa syndrome semapv:UnspecifiedMatching MONDO:0000463 Ochoa syndrome skos:exactMatch SCTID:236533008 semapv:UnspecifiedMatching MONDO:0000463 Ochoa syndrome skos:exactMatch mesh:C536480 semapv:UnspecifiedMatching MONDO:0000465 atrioventricular block skos:exactMatch DOID:0050820 atrioventricular block semapv:UnspecifiedMatching MONDO:0000465 atrioventricular block skos:exactMatch SCTID:233917008 semapv:UnspecifiedMatching MONDO:0000465 atrioventricular block skos:exactMatch UMLS:C0004245 semapv:UnspecifiedMatching MONDO:0000465 atrioventricular block skos:exactMatch mesh:D054537 semapv:UnspecifiedMatching MONDO:0000466 first-degree atrioventricular block skos:exactMatch DOID:0050821 first-degree atrioventricular block semapv:UnspecifiedMatching MONDO:0000466 first-degree atrioventricular block skos:exactMatch NCIT:C62015 AV Block First Degree semapv:UnspecifiedMatching MONDO:0000466 first-degree atrioventricular block skos:exactMatch SCTID:270492004 semapv:UnspecifiedMatching MONDO:0000466 first-degree atrioventricular block skos:exactMatch UMLS:C0085614 semapv:UnspecifiedMatching MONDO:0000467 second-degree atrioventricular block skos:exactMatch DOID:0050822 second-degree atrioventricular block semapv:UnspecifiedMatching MONDO:0000467 second-degree atrioventricular block skos:exactMatch NCIT:C111119 AV Block Second Degree semapv:UnspecifiedMatching MONDO:0000467 second-degree atrioventricular block skos:exactMatch SCTID:195042002 semapv:UnspecifiedMatching MONDO:0000467 second-degree atrioventricular block skos:exactMatch UMLS:C0264906 semapv:UnspecifiedMatching MONDO:0000468 third-degree atrioventricular block skos:exactMatch DOID:0050823 third-degree atrioventricular block semapv:UnspecifiedMatching MONDO:0000468 third-degree atrioventricular block skos:exactMatch NCIT:C50501 Complete Atrioventricular Block semapv:UnspecifiedMatching MONDO:0000468 third-degree atrioventricular block skos:exactMatch SCTID:27885002 semapv:UnspecifiedMatching MONDO:0000468 third-degree atrioventricular block skos:exactMatch UMLS:C0151517 semapv:UnspecifiedMatching MONDO:0000469 sinoatrial node disorder skos:exactMatch DOID:0050824 sinoatrial node disease semapv:UnspecifiedMatching MONDO:0000470 endocardium disorder skos:exactMatch DOID:0050825 endocardium disease semapv:UnspecifiedMatching MONDO:0000470 endocardium disorder skos:exactMatch SCTID:123596001 semapv:UnspecifiedMatching MONDO:0000470 endocardium disorder skos:exactMatch UMLS:C0854140 semapv:UnspecifiedMatching MONDO:0000471 tricuspid valve disorder skos:exactMatch DOID:0050826 tricuspid valve disease semapv:UnspecifiedMatching MONDO:0000471 tricuspid valve disorder skos:exactMatch NCIT:C78649 Tricuspid Valve Disorder semapv:UnspecifiedMatching MONDO:0000471 tricuspid valve disorder skos:exactMatch SCTID:20721001 semapv:UnspecifiedMatching MONDO:0000471 tricuspid valve disorder skos:exactMatch UMLS:C0264776 semapv:UnspecifiedMatching MONDO:0000471 tricuspid valve disorder skos:exactMatch UMLS:C0264882 semapv:UnspecifiedMatching MONDO:0000473 arterial disorder skos:exactMatch DOID:0050828 artery disease semapv:UnspecifiedMatching MONDO:0000473 arterial disorder skos:exactMatch NCIT:C35317 Arterial Disorder semapv:UnspecifiedMatching MONDO:0000473 arterial disorder skos:exactMatch SCTID:359557001 semapv:UnspecifiedMatching MONDO:0000473 arterial disorder skos:exactMatch UMLS:C0852949 semapv:UnspecifiedMatching MONDO:0000474 pericardium disorder skos:exactMatch DOID:0050829 pericardium disease semapv:UnspecifiedMatching MONDO:0000474 pericardium disorder skos:exactMatch SCTID:55855009 semapv:UnspecifiedMatching MONDO:0000474 pericardium disorder skos:exactMatch UMLS:C0265122 semapv:UnspecifiedMatching MONDO:0000476 generalized dystonia skos:exactMatch DOID:0050835 generalized dystonia semapv:UnspecifiedMatching MONDO:0000476 generalized dystonia skos:exactMatch Orphanet:376724 Generalized isolated dystonia semapv:UnspecifiedMatching MONDO:0000476 generalized dystonia skos:exactMatch SCTID:425492002 semapv:UnspecifiedMatching MONDO:0000476 generalized dystonia skos:exactMatch mesh:D004422 semapv:UnspecifiedMatching MONDO:0000477 focal dystonia skos:exactMatch DOID:0050836 focal dystonia semapv:UnspecifiedMatching MONDO:0000477 focal dystonia skos:exactMatch SCTID:445006008 semapv:UnspecifiedMatching MONDO:0000477 focal dystonia skos:exactMatch UMLS:C0743332 semapv:UnspecifiedMatching MONDO:0000478 multifocal dystonia skos:exactMatch DOID:0050837 multifocal dystonia semapv:UnspecifiedMatching MONDO:0000479 segmental dystonia skos:exactMatch DOID:0050838 segmental dystonia semapv:UnspecifiedMatching MONDO:0000479 segmental dystonia skos:exactMatch SCTID:427945008 semapv:UnspecifiedMatching MONDO:0000479 segmental dystonia skos:exactMatch UMLS:C1997740 semapv:UnspecifiedMatching MONDO:0000480 anismus skos:exactMatch DOID:0050839 anismus semapv:UnspecifiedMatching MONDO:0000480 anismus skos:exactMatch SCTID:83605009 semapv:UnspecifiedMatching MONDO:0000480 anismus skos:exactMatch UMLS:C0267601 semapv:UnspecifiedMatching MONDO:0000481 cervical dystonia skos:exactMatch DOID:0050840 cervical dystonia semapv:UnspecifiedMatching MONDO:0000481 cervical dystonia skos:exactMatch NCIT:C85072 Spasmodic Torticollis semapv:UnspecifiedMatching MONDO:0000481 cervical dystonia skos:exactMatch SCTID:74333002 semapv:UnspecifiedMatching MONDO:0000482 focal hand dystonia skos:exactMatch DOID:0050841 focal hand dystonia semapv:UnspecifiedMatching MONDO:0000482 focal hand dystonia skos:exactMatch SCTID:52008007 semapv:UnspecifiedMatching MONDO:0000482 focal hand dystonia skos:exactMatch UMLS:C0154676 semapv:UnspecifiedMatching MONDO:0000483 oculogyric crisis skos:exactMatch DOID:0050842 oculogyric crisis semapv:UnspecifiedMatching MONDO:0000485 spasmodic dystonia skos:exactMatch DOID:0050844 spasmodic dystonia semapv:UnspecifiedMatching MONDO:0000485 spasmodic dystonia skos:exactMatch SCTID:3331000119108 semapv:UnspecifiedMatching MONDO:0000485 spasmodic dystonia skos:exactMatch UMLS:C1963946 semapv:UnspecifiedMatching MONDO:0000485 spasmodic dystonia skos:exactMatch mesh:D055154 semapv:UnspecifiedMatching MONDO:0000486 craniofacial dystonia skos:exactMatch DOID:0050845 cranio-facial dystonia semapv:UnspecifiedMatching MONDO:0000486 craniofacial dystonia skos:exactMatch UMLS:C4023011 semapv:UnspecifiedMatching MONDO:0000487 hemidystonia skos:exactMatch DOID:0050846 hemidystonia semapv:UnspecifiedMatching MONDO:0000487 hemidystonia skos:exactMatch SCTID:427232004 semapv:UnspecifiedMatching MONDO:0000487 hemidystonia skos:exactMatch UMLS:C1960561 semapv:UnspecifiedMatching MONDO:0000488 periampullary adenoma skos:exactMatch DOID:0050849 periampullary adenoma semapv:UnspecifiedMatching MONDO:0000488 periampullary adenoma skos:exactMatch UMLS:CN068444 semapv:UnspecifiedMatching MONDO:0000489 diabetic encephalopathy skos:exactMatch DOID:0050850 diabetic encephalopathy semapv:UnspecifiedMatching MONDO:0000490 glomerulosclerosis skos:exactMatch DOID:0050851 glomerulosclerosis semapv:UnspecifiedMatching MONDO:0000490 glomerulosclerosis skos:exactMatch NCIT:C120888 Glomerulosclerosis semapv:UnspecifiedMatching MONDO:0000490 glomerulosclerosis skos:exactMatch SCTID:197661001 semapv:UnspecifiedMatching MONDO:0000490 glomerulosclerosis skos:exactMatch UMLS:C0178664 semapv:UnspecifiedMatching MONDO:0000491 limb ischemia skos:exactMatch DOID:0050852 limb ischemia semapv:UnspecifiedMatching MONDO:0000491 limb ischemia skos:exactMatch SCTID:21631000119105 semapv:UnspecifiedMatching MONDO:0000491 limb ischemia skos:exactMatch UMLS:C2945695 semapv:UnspecifiedMatching MONDO:0000492 chronic venous insufficiency skos:exactMatch DOID:0050853 chronic venous insufficiency semapv:UnspecifiedMatching MONDO:0000492 chronic venous insufficiency skos:exactMatch UMLS:C1306557 semapv:UnspecifiedMatching MONDO:0000494 renal fibrosis skos:exactMatch DOID:0050855 renal fibrosis semapv:UnspecifiedMatching MONDO:0000494 renal fibrosis skos:exactMatch SCTID:197660000 semapv:UnspecifiedMatching MONDO:0000494 renal fibrosis skos:exactMatch UMLS:C0151650 semapv:UnspecifiedMatching MONDO:0000495 oppositional defiant disorder skos:exactMatch DOID:0050856 oppositional defiant disorder semapv:UnspecifiedMatching MONDO:0000495 oppositional defiant disorder skos:exactMatch NCIT:C92565 Oppositional Defiant Disorder semapv:UnspecifiedMatching MONDO:0000495 oppositional defiant disorder skos:exactMatch SCTID:18941000 semapv:UnspecifiedMatching MONDO:0000495 oppositional defiant disorder skos:exactMatch mesh:D019958 semapv:UnspecifiedMatching MONDO:0000496 hemorrhagic cystitis skos:exactMatch DOID:0050859 hemorrhagic cystitis semapv:UnspecifiedMatching MONDO:0000496 hemorrhagic cystitis skos:exactMatch NCIT:C114666 Hemorrhagic Cystitis semapv:UnspecifiedMatching MONDO:0000496 hemorrhagic cystitis skos:exactMatch SCTID:87696004 semapv:UnspecifiedMatching MONDO:0000496 hemorrhagic cystitis skos:exactMatch UMLS:C0085692 semapv:UnspecifiedMatching MONDO:0000497 pyometritis skos:exactMatch DOID:0050862 pyometritis semapv:UnspecifiedMatching MONDO:0000497 pyometritis skos:exactMatch NCIT:C121207 Pyometra semapv:UnspecifiedMatching MONDO:0000497 pyometritis skos:exactMatch SCTID:88981003 semapv:UnspecifiedMatching MONDO:0000497 pyometritis skos:exactMatch UMLS:C0034215 semapv:UnspecifiedMatching MONDO:0000497 pyometritis skos:exactMatch mesh:D055112 semapv:UnspecifiedMatching MONDO:0000498 arteritic anterior ischemic optic neuropathy skos:exactMatch DOID:0050863 arteritic anterior ischemic optic neuropathy semapv:UnspecifiedMatching MONDO:0000498 arteritic anterior ischemic optic neuropathy skos:exactMatch SCTID:733506009 semapv:UnspecifiedMatching MONDO:0000498 arteritic anterior ischemic optic neuropathy skos:exactMatch UMLS:C2242711 semapv:UnspecifiedMatching MONDO:0000499 non-arteritic anterior ischemic optic neuropathy skos:exactMatch DOID:0050864 non-arteritic anterior ischemic optic neuropathy semapv:UnspecifiedMatching MONDO:0000499 non-arteritic anterior ischemic optic neuropathy skos:exactMatch UMLS:C1852242 semapv:UnspecifiedMatching MONDO:0000500 tongue squamous cell carcinoma skos:exactMatch DOID:0050865 tongue squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0000500 tongue squamous cell carcinoma skos:exactMatch NCIT:C4648 Tongue Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0000500 tongue squamous cell carcinoma skos:exactMatch SCTID:276952000 semapv:UnspecifiedMatching MONDO:0000500 tongue squamous cell carcinoma skos:exactMatch UMLS:C0349566 semapv:UnspecifiedMatching MONDO:0000501 obsolete Jensen syndrome skos:exactMatch DOID:0050867 obsolete Jensen syndrome semapv:UnspecifiedMatching MONDO:0000501 obsolete Jensen syndrome skos:exactMatch UMLS:C1839564 semapv:UnspecifiedMatching MONDO:0000501 obsolete Jensen syndrome skos:exactMatch mesh:C537568 semapv:UnspecifiedMatching MONDO:0000502 villous adenoma skos:exactMatch DOID:0050869 villous adenoma semapv:UnspecifiedMatching MONDO:0000502 villous adenoma skos:exactMatch NCIT:C7399 Villous Adenoma semapv:UnspecifiedMatching MONDO:0000502 villous adenoma skos:exactMatch UMLS:C0206674 semapv:UnspecifiedMatching MONDO:0000502 villous adenoma skos:exactMatch mesh:D018253 semapv:UnspecifiedMatching MONDO:0000503 lung adenocarcinoma in situ skos:exactMatch DOID:0050870 pulmonary adenocarcinoma in situ semapv:UnspecifiedMatching MONDO:0000503 lung adenocarcinoma in situ skos:exactMatch NCIT:C136486 Lung Adenocarcinoma In Situ semapv:UnspecifiedMatching MONDO:0000503 lung adenocarcinoma in situ skos:exactMatch UMLS:C4521520 semapv:UnspecifiedMatching MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:UnspecifiedMatching MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch OMIMPS:167320 semapv:UnspecifiedMatching MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:UnspecifiedMatching MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch SCTID:703544004 semapv:UnspecifiedMatching MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch UMLS:C1833662 semapv:UnspecifiedMatching MONDO:0000508 syndromic intellectual disability skos:exactMatch DOID:0050888 syndromic intellectual disability semapv:UnspecifiedMatching MONDO:0000508 syndromic intellectual disability skos:exactMatch UMLS:CN225415 semapv:UnspecifiedMatching MONDO:0000509 non-syndromic intellectual disability skos:exactMatch DOID:0050889 non-syndromic intellectual disability semapv:UnspecifiedMatching MONDO:0000510 synucleinopathy skos:exactMatch DOID:0050890 synucleinopathy semapv:UnspecifiedMatching MONDO:0000510 synucleinopathy skos:exactMatch UMLS:C5191670 semapv:UnspecifiedMatching MONDO:0000510 synucleinopathy skos:exactMatch mesh:D000080874 semapv:UnspecifiedMatching MONDO:0000513 bone ameloblastoma skos:exactMatch DOID:0050895 bone ameloblastoma semapv:UnspecifiedMatching MONDO:0000514 bone squamous cell carcinoma skos:exactMatch DOID:0050896 bone squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0000515 bone chondrosarcoma skos:exactMatch DOID:0050897 bone chondrosarcoma semapv:UnspecifiedMatching MONDO:0000516 phalanx chondroma skos:exactMatch DOID:0050898 phalanx chondroma semapv:UnspecifiedMatching MONDO:0000517 brain stem medulloblastoma skos:exactMatch DOID:0050899 brain stem medulloblastoma semapv:UnspecifiedMatching MONDO:0000518 sacrum chordoma skos:exactMatch DOID:0050900 sacrum chordoma semapv:UnspecifiedMatching MONDO:0000518 sacrum chordoma skos:exactMatch SCTID:447730004 semapv:UnspecifiedMatching MONDO:0000518 sacrum chordoma skos:exactMatch UMLS:C3164279 semapv:UnspecifiedMatching MONDO:0000519 corpus callosum oligodendroglioma skos:exactMatch DOID:0050901 corpus callosum oligodendroglioma semapv:UnspecifiedMatching MONDO:0000520 parietal lobe ependymal tumor skos:exactMatch DOID:0050903 parietal lobe ependymoma semapv:UnspecifiedMatching MONDO:0000520 parietal lobe ependymal tumor skos:exactMatch NCIT:C131575 Parietal Lobe Ependymal Tumor semapv:UnspecifiedMatching MONDO:0000520 parietal lobe ependymal tumor skos:exactMatch UMLS:C4330935 semapv:UnspecifiedMatching MONDO:0000521 salivary gland carcinoma skos:exactMatch DOID:0050904 salivary gland carcinoma semapv:UnspecifiedMatching MONDO:0000521 salivary gland carcinoma skos:exactMatch NCIT:C9272 Salivary Gland Carcinoma semapv:UnspecifiedMatching MONDO:0000521 salivary gland carcinoma skos:exactMatch UMLS:C0948750 semapv:UnspecifiedMatching MONDO:0000524 mixed extragonadal germ cell cancer skos:exactMatch DOID:0050907 mixed extragonadal germ cell cancer semapv:UnspecifiedMatching MONDO:0000525 cecum villous adenoma skos:exactMatch DOID:0050910 cecum adenoma semapv:UnspecifiedMatching MONDO:0000525 cecum villous adenoma skos:exactMatch NCIT:C5520 Cecum Villous Adenoma semapv:UnspecifiedMatching MONDO:0000525 cecum villous adenoma skos:exactMatch UMLS:C1332869 semapv:UnspecifiedMatching MONDO:0000527 colon adenoma skos:exactMatch DOID:0050912 colon adenoma semapv:UnspecifiedMatching MONDO:0000527 colon adenoma skos:exactMatch NCIT:C3864 Colon Adenoma semapv:UnspecifiedMatching MONDO:0000527 colon adenoma skos:exactMatch UMLS:C4551463 semapv:UnspecifiedMatching MONDO:0000530 rectum adenoma skos:exactMatch DOID:0050915 rectal adenoma semapv:UnspecifiedMatching MONDO:0000530 rectum adenoma skos:exactMatch NCIT:C5546 Rectal Adenoma semapv:UnspecifiedMatching MONDO:0000530 rectum adenoma skos:exactMatch SCTID:399730005 semapv:UnspecifiedMatching MONDO:0000530 rectum adenoma skos:exactMatch UMLS:C1302652 semapv:UnspecifiedMatching MONDO:0000531 bronchus mucoepidermoid carcinoma skos:exactMatch DOID:0050916 bronchus mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0000532 lung combined type small cell adenocarcinoma skos:exactMatch DOID:0050917 lung combined type small cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0000534 trachea mucoepidermoid carcinoma skos:exactMatch DOID:0050919 trachea mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0000534 trachea mucoepidermoid carcinoma skos:exactMatch SCTID:707379000 semapv:UnspecifiedMatching MONDO:0000534 trachea mucoepidermoid carcinoma skos:exactMatch UMLS:C3873401 semapv:UnspecifiedMatching MONDO:0000535 tonsil squamous cell carcinoma skos:exactMatch DOID:0050920 tonsil squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0000536 pharyngeal squamous cell carcinoma skos:exactMatch DOID:0050921 pharynx squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0000536 pharyngeal squamous cell carcinoma skos:exactMatch NCIT:C102872 Pharyngeal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0000536 pharyngeal squamous cell carcinoma skos:exactMatch SCTID:408649007 semapv:UnspecifiedMatching MONDO:0000536 pharyngeal squamous cell carcinoma skos:exactMatch UMLS:C1319317 semapv:UnspecifiedMatching MONDO:0000539 striated muscle rhabdoid tumor skos:exactMatch DOID:0050924 striated muscle rhabdoid tumor semapv:UnspecifiedMatching MONDO:0000540 small intestinal neuroendocrine tumor G1 skos:exactMatch DOID:0050925 small intestine carcinoid neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0000540 small intestinal neuroendocrine tumor G1 skos:exactMatch NCIT:C4638 Small Intestinal Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0000540 small intestinal neuroendocrine tumor G1 skos:exactMatch SCTID:276818002 semapv:UnspecifiedMatching MONDO:0000540 small intestinal neuroendocrine tumor G1 skos:exactMatch UMLS:C0349536 semapv:UnspecifiedMatching MONDO:0000541 jejunal adenocarcinoma skos:exactMatch DOID:0050926 jejunal adenocarcinoma semapv:UnspecifiedMatching MONDO:0000541 jejunal adenocarcinoma skos:exactMatch NCIT:C181158 Jejunal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0000541 jejunal adenocarcinoma skos:exactMatch UMLS:C4072935 semapv:UnspecifiedMatching MONDO:0000543 ovarian melanoma skos:exactMatch DOID:0050928 ovarian melanoma semapv:UnspecifiedMatching MONDO:0000543 ovarian melanoma skos:exactMatch NCIT:C178441 Ovarian Melanoma semapv:UnspecifiedMatching MONDO:0000544 mucosal melanoma skos:exactMatch DOID:0050929 mucosal melanoma semapv:UnspecifiedMatching MONDO:0000544 mucosal melanoma skos:exactMatch NCIT:C114828 Mucosal Melanoma semapv:UnspecifiedMatching MONDO:0000544 mucosal melanoma skos:exactMatch UMLS:C3898222 semapv:UnspecifiedMatching MONDO:0000545 sublingual gland adenoid cystic carcinoma skos:exactMatch DOID:0050930 sublingual gland adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0000548 ovarian clear cell cancer skos:exactMatch DOID:0050934 ovarian clear cell carcinoma semapv:UnspecifiedMatching MONDO:0000548 ovarian clear cell cancer skos:exactMatch NCIT:C40077 Malignant Ovarian Clear Cell Tumor semapv:UnspecifiedMatching MONDO:0000548 ovarian clear cell cancer skos:exactMatch UMLS:C1518230 semapv:UnspecifiedMatching MONDO:0000549 cervical neuroblastoma skos:exactMatch DOID:0050935 cervical neuroblastoma semapv:UnspecifiedMatching MONDO:0000550 extra-adrenal sympathetic paraganglioma skos:exactMatch DOID:0050936 extra-adrenal pheochromocytoma semapv:UnspecifiedMatching MONDO:0000550 extra-adrenal sympathetic paraganglioma skos:exactMatch NCIT:C48576 Extra-Adrenal Sympathetic Paraganglioma semapv:UnspecifiedMatching MONDO:0000550 extra-adrenal sympathetic paraganglioma skos:exactMatch UMLS:C1257877 semapv:UnspecifiedMatching MONDO:0000551 retroperitoneal neuroblastoma skos:exactMatch DOID:0050937 retroperitoneal neuroblastoma semapv:UnspecifiedMatching MONDO:0000552 breast lobular carcinoma skos:exactMatch DOID:0050938 breast lobular carcinoma semapv:UnspecifiedMatching MONDO:0000552 breast lobular carcinoma skos:exactMatch NCIT:C3771 Breast Lobular Carcinoma semapv:UnspecifiedMatching MONDO:0000552 breast lobular carcinoma skos:exactMatch SCTID:278054005 semapv:UnspecifiedMatching MONDO:0000552 breast lobular carcinoma skos:exactMatch UMLS:C0206692 semapv:UnspecifiedMatching MONDO:0000553 uterine corpus endometrial carcinoma skos:exactMatch DOID:0050939 uterine corpus endometrial carcinoma semapv:UnspecifiedMatching MONDO:0000554 endocervical adenocarcinoma skos:exactMatch DOID:0050940 endocervical adenocarcinoma semapv:UnspecifiedMatching MONDO:0000554 endocervical adenocarcinoma skos:exactMatch NCIT:C127907 Endocervical Adenocarcinoma, Usual-Type semapv:UnspecifiedMatching MONDO:0000554 endocervical adenocarcinoma skos:exactMatch SCTID:123842006 semapv:UnspecifiedMatching MONDO:0000554 endocervical adenocarcinoma skos:exactMatch UMLS:C1263762 semapv:UnspecifiedMatching MONDO:0000563 GRID2-related autosomal dominant spinocerebellar ataxia skos:exactMatch DOID:0050988 GRID2-related spinocerebellar ataxia semapv:UnspecifiedMatching MONDO:0000565 infective endocarditis skos:exactMatch DOID:0060000 infective endocarditis semapv:UnspecifiedMatching MONDO:0000565 infective endocarditis skos:exactMatch NCIT:C78265 Infective Endocarditis semapv:UnspecifiedMatching MONDO:0000565 infective endocarditis skos:exactMatch Orphanet:570762 Infective endocarditis semapv:UnspecifiedMatching MONDO:0000565 infective endocarditis skos:exactMatch SCTID:233850007 semapv:UnspecifiedMatching MONDO:0000568 autoimmune disorder of central nervous system skos:exactMatch DOID:0060004 autoimmune disease of central nervous system semapv:UnspecifiedMatching MONDO:0000569 autoimmune disorder of endocrine system skos:exactMatch DOID:0060005 autoimmune disease of endocrine system semapv:UnspecifiedMatching MONDO:0000569 autoimmune disorder of endocrine system skos:exactMatch SCTID:237822008 semapv:UnspecifiedMatching MONDO:0000569 autoimmune disorder of endocrine system skos:exactMatch UMLS:C0342552 semapv:UnspecifiedMatching MONDO:0000572 recombinase activating gene 1 deficiency skos:exactMatch DOID:0060011 recombinase activating gene 1 deficiency semapv:UnspecifiedMatching MONDO:0000573 recombinase activating gene 2 deficiency skos:exactMatch DOID:0060012 recombinase activating gene 2 deficiency semapv:UnspecifiedMatching MONDO:0000577 congenital anemia skos:exactMatch NCIT:C35228 Congenital Anemia semapv:UnspecifiedMatching MONDO:0000577 congenital anemia skos:exactMatch SCTID:63565007 semapv:UnspecifiedMatching MONDO:0000577 congenital anemia skos:exactMatch UMLS:C0158995 semapv:UnspecifiedMatching MONDO:0000583 immunoglobulin beta deficiency skos:exactMatch DOID:0060026 immunoglobulin beta deficiency semapv:UnspecifiedMatching MONDO:0000583 immunoglobulin beta deficiency skos:exactMatch UMLS:C3502055 semapv:UnspecifiedMatching MONDO:0000583 immunoglobulin beta deficiency skos:exactMatch mesh:C567200 semapv:UnspecifiedMatching MONDO:0000584 B cell linker protein deficiency skos:exactMatch DOID:0060027 agammaglobulinemia 4 semapv:UnspecifiedMatching MONDO:0000586 autoimmune disorder of exocrine system skos:exactMatch DOID:0060029 autoimmune disease of exocrine system semapv:UnspecifiedMatching MONDO:0000587 autoimmune disease of ear, nose and throat skos:exactMatch DOID:0060030 autoimmune disease of eyes, ear, nose and throat semapv:UnspecifiedMatching MONDO:0000588 autoimmune disorder of gastrointestinal tract skos:exactMatch DOID:0060031 autoimmune disease of gastrointestinal tract semapv:UnspecifiedMatching MONDO:0000589 autoimmune disorder of musculoskeletal system skos:exactMatch DOID:0060032 autoimmune disease of musculoskeletal system semapv:UnspecifiedMatching MONDO:0000590 autoimmune disorder of peripheral nervous system skos:exactMatch DOID:0060033 autoimmune disease of peripheral nervous system semapv:UnspecifiedMatching MONDO:0000591 intrinsic cardiomyopathy skos:exactMatch DOID:0060036 intrinsic cardiomyopathy semapv:UnspecifiedMatching MONDO:0000592 specific developmental disorder skos:exactMatch DOID:0060038 specific developmental disorder semapv:UnspecifiedMatching MONDO:0000592 specific developmental disorder skos:exactMatch SCTID:10720004 semapv:UnspecifiedMatching MONDO:0000594 pervasive developmental disorder skos:exactMatch DOID:0060040 pervasive developmental disorder semapv:UnspecifiedMatching MONDO:0000594 pervasive developmental disorder skos:exactMatch NCIT:C97179 Pervasive Developmental Disorder semapv:UnspecifiedMatching MONDO:0000594 pervasive developmental disorder skos:exactMatch SCTID:35919005 semapv:UnspecifiedMatching MONDO:0000594 pervasive developmental disorder skos:exactMatch mesh:D002659 semapv:UnspecifiedMatching MONDO:0000595 sexual and gender identity disorders skos:exactMatch DOID:0060043 sexual health disorder semapv:UnspecifiedMatching MONDO:0000595 sexual and gender identity disorders skos:exactMatch NCIT:C92202 Sexual and Gender Identity Disorders semapv:UnspecifiedMatching MONDO:0000595 sexual and gender identity disorders skos:exactMatch SCTID:231532002 semapv:UnspecifiedMatching MONDO:0000596 paraphilic disorder skos:exactMatch DOID:0060044 paraphilia disorder semapv:UnspecifiedMatching MONDO:0000596 paraphilic disorder skos:exactMatch SCTID:50299009 semapv:UnspecifiedMatching MONDO:0000596 paraphilic disorder skos:exactMatch mesh:D010262 semapv:UnspecifiedMatching MONDO:0000597 Munchausen by proxy skos:exactMatch DOID:0060045 Munchausen by proxy semapv:UnspecifiedMatching MONDO:0000597 Munchausen by proxy skos:exactMatch SCTID:95637005 semapv:UnspecifiedMatching MONDO:0000597 Munchausen by proxy skos:exactMatch mesh:D016735 semapv:UnspecifiedMatching MONDO:0000598 aphasia skos:exactMatch DOID:0060046 aphasia semapv:UnspecifiedMatching MONDO:0000598 aphasia skos:exactMatch ICD10CM:R47.01 Aphasia semapv:UnspecifiedMatching MONDO:0000598 aphasia skos:exactMatch mesh:D001037 semapv:UnspecifiedMatching MONDO:0000599 writing disorder skos:exactMatch DOID:0060047 writing disorder semapv:UnspecifiedMatching MONDO:0000600 nosophobia skos:exactMatch DOID:0060048 nosophobia semapv:UnspecifiedMatching MONDO:0000601 obsolete autoimmune disorder of urogenital tract skos:exactMatch DOID:0060049 autoimmune disease of urogenital tract semapv:UnspecifiedMatching MONDO:0000602 autoimmune disorder of blood skos:exactMatch DOID:0060050 autoimmune disease of blood semapv:UnspecifiedMatching MONDO:0000603 autoimmune disorder of cardiovascular system skos:exactMatch DOID:0060051 autoimmune disease of cardiovascular system semapv:UnspecifiedMatching MONDO:0000605 hypersensitivity reaction disease skos:exactMatch DOID:0060056 hypersensitivity reaction disease semapv:UnspecifiedMatching MONDO:0000605 hypersensitivity reaction disease skos:exactMatch NCIT:C3114 Hypersensitivity semapv:UnspecifiedMatching MONDO:0000605 hypersensitivity reaction disease skos:exactMatch SCTID:473010000 semapv:UnspecifiedMatching MONDO:0000606 obsolete gluten allergy skos:exactMatch DOID:0060057 gluten allergy semapv:UnspecifiedMatching MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma skos:exactMatch DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma skos:exactMatch NCIT:C3467 Primary Cutaneous T-Cell Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma skos:exactMatch mesh:D016410 semapv:UnspecifiedMatching MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch DOID:0060062 familial juvenile hyperuricemic nephropathy semapv:UnspecifiedMatching MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch OMIMPS:162000 semapv:UnspecifiedMatching MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch SCTID:46785007 semapv:UnspecifiedMatching MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch UMLS:C0268113 semapv:UnspecifiedMatching MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch mesh:C537696 semapv:UnspecifiedMatching MONDO:0000610 marantic endocarditis skos:exactMatch DOID:0060068 nonbacterial thrombotic endocarditis semapv:UnspecifiedMatching MONDO:0000610 marantic endocarditis skos:exactMatch SCTID:57181007 semapv:UnspecifiedMatching MONDO:0000610 marantic endocarditis skos:exactMatch mesh:D059905 semapv:UnspecifiedMatching MONDO:0000611 pre-malignant neoplasm skos:exactMatch DOID:0060071 pre-malignant neoplasm semapv:UnspecifiedMatching MONDO:0000612 lymphatic system cancer skos:exactMatch DOID:0060073 lymphatic system cancer semapv:UnspecifiedMatching MONDO:0000615 progesterone-receptor positive breast cancer skos:exactMatch DOID:0060077 progesterone-receptor positive breast cancer semapv:UnspecifiedMatching MONDO:0000616 progesterone-receptor negative breast cancer skos:exactMatch DOID:0060078 progesterone-receptor negative breast cancer semapv:UnspecifiedMatching MONDO:0000618 Her2-receptor negative breast cancer skos:exactMatch DOID:0060080 Her2-receptor negative breast cancer semapv:UnspecifiedMatching MONDO:0000618 Her2-receptor negative breast cancer skos:exactMatch NCIT:C168519 HER2-Negative Breast Carcinoma semapv:UnspecifiedMatching MONDO:0000618 Her2-receptor negative breast cancer skos:exactMatch SCTID:431396003 semapv:UnspecifiedMatching MONDO:0000618 Her2-receptor negative breast cancer skos:exactMatch UMLS:C4733095 semapv:UnspecifiedMatching MONDO:0000620 breast benign neoplasm skos:exactMatch DOID:0060082 breast benign neoplasm semapv:UnspecifiedMatching MONDO:0000620 breast benign neoplasm skos:exactMatch NCIT:C4505 Benign Breast Neoplasm semapv:UnspecifiedMatching MONDO:0000620 breast benign neoplasm skos:exactMatch SCTID:269485000 semapv:UnspecifiedMatching MONDO:0000621 immune system cancer skos:exactMatch DOID:0060083 immune system cancer semapv:UnspecifiedMatching MONDO:0000624 benign female reproductive system neoplasm skos:exactMatch DOID:0060086 female reproductive organ benign neoplasm semapv:UnspecifiedMatching MONDO:0000624 benign female reproductive system neoplasm skos:exactMatch NCIT:C4934 Benign Female Reproductive System Neoplasm semapv:UnspecifiedMatching MONDO:0000624 benign female reproductive system neoplasm skos:exactMatch UMLS:C0744514 semapv:UnspecifiedMatching MONDO:0000625 benign male reproductive system neoplasm skos:exactMatch DOID:0060087 male reproductive organ benign neoplasm semapv:UnspecifiedMatching MONDO:0000625 benign male reproductive system neoplasm skos:exactMatch NCIT:C4777 Benign Male Reproductive System Neoplasm semapv:UnspecifiedMatching MONDO:0000625 benign male reproductive system neoplasm skos:exactMatch UMLS:C0947786 semapv:UnspecifiedMatching MONDO:0000626 vestibular gland benign neoplasm skos:exactMatch DOID:0060088 vestibular gland benign neoplasm semapv:UnspecifiedMatching MONDO:0000627 benign endocrine neoplasm skos:exactMatch DOID:0060089 endocrine organ benign neoplasm semapv:UnspecifiedMatching MONDO:0000627 benign endocrine neoplasm skos:exactMatch NCIT:C4621 Benign Endocrine Neoplasm semapv:UnspecifiedMatching MONDO:0000627 benign endocrine neoplasm skos:exactMatch SCTID:92085000 semapv:UnspecifiedMatching MONDO:0000627 benign endocrine neoplasm skos:exactMatch UMLS:C0347524 semapv:UnspecifiedMatching MONDO:0000628 central nervous system organ benign neoplasm skos:exactMatch DOID:0060090 central nervous system benign neoplasm semapv:UnspecifiedMatching MONDO:0000629 cardiovascular organ benign neoplasm skos:exactMatch DOID:0060091 cardiovascular organ benign neoplasm semapv:UnspecifiedMatching MONDO:0000630 immune system organ benign neoplasm skos:exactMatch DOID:0060092 immune system organ benign neoplasm semapv:UnspecifiedMatching MONDO:0000631 bone benign neoplasm skos:exactMatch DOID:0060094 bone benign neoplasm semapv:UnspecifiedMatching MONDO:0000631 bone benign neoplasm skos:exactMatch NCIT:C4880 Benign Bone Neoplasm semapv:UnspecifiedMatching MONDO:0000631 bone benign neoplasm skos:exactMatch SCTID:92027006 semapv:UnspecifiedMatching MONDO:0000632 uterine benign neoplasm skos:exactMatch DOID:0060095 uterine benign neoplasm semapv:UnspecifiedMatching MONDO:0000632 uterine benign neoplasm skos:exactMatch NCIT:C3609 Benign Uterine Neoplasm semapv:UnspecifiedMatching MONDO:0000632 uterine benign neoplasm skos:exactMatch SCTID:92470003 semapv:UnspecifiedMatching MONDO:0000632 uterine benign neoplasm skos:exactMatch UMLS:C0153999 semapv:UnspecifiedMatching MONDO:0000633 sensory organ benign neoplasm skos:exactMatch DOID:0060096 sensory organ benign neoplasm semapv:UnspecifiedMatching MONDO:0000634 thoracic benign neoplasm skos:exactMatch DOID:0060097 thoracic benign neoplasm semapv:UnspecifiedMatching MONDO:0000634 thoracic benign neoplasm skos:exactMatch NCIT:C4565 Benign Thoracic Neoplasm semapv:UnspecifiedMatching MONDO:0000634 thoracic benign neoplasm skos:exactMatch SCTID:255059002 semapv:UnspecifiedMatching MONDO:0000634 thoracic benign neoplasm skos:exactMatch UMLS:C0346440 semapv:UnspecifiedMatching MONDO:0000636 musculoskeletal system benign neoplasm skos:exactMatch DOID:0060099 musculoskeletal system benign neoplasm semapv:UnspecifiedMatching MONDO:0000637 musculoskeletal system cancer skos:exactMatch DOID:0060100 musculoskeletal system cancer semapv:UnspecifiedMatching MONDO:0000639 cartilage cancer skos:exactMatch DOID:0060102 cartilage cancer semapv:UnspecifiedMatching MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch DOID:0060103 central nervous system embryonal tumor semapv:UnspecifiedMatching MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch NCIT:C5398 Central Nervous System Embryonal Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch UMLS:CN201960 semapv:UnspecifiedMatching MONDO:0000642 brain meningioma skos:exactMatch DOID:0060106 brain meningioma semapv:UnspecifiedMatching MONDO:0000643 vulvar benign neoplasm skos:exactMatch DOID:0060109 vulvar benign neoplasm semapv:UnspecifiedMatching MONDO:0000643 vulvar benign neoplasm skos:exactMatch NCIT:C3611 Benign Vulvar Neoplasm semapv:UnspecifiedMatching MONDO:0000643 vulvar benign neoplasm skos:exactMatch SCTID:92486005 semapv:UnspecifiedMatching MONDO:0000643 vulvar benign neoplasm skos:exactMatch UMLS:C0154003 semapv:UnspecifiedMatching MONDO:0000644 cervical benign neoplasm skos:exactMatch DOID:0060110 cervical benign neoplasm semapv:UnspecifiedMatching MONDO:0000644 cervical benign neoplasm skos:exactMatch NCIT:C3607 Benign Cervical Neoplasm semapv:UnspecifiedMatching MONDO:0000644 cervical benign neoplasm skos:exactMatch SCTID:92056006 semapv:UnspecifiedMatching MONDO:0000644 cervical benign neoplasm skos:exactMatch UMLS:C0153997 semapv:UnspecifiedMatching MONDO:0000645 fallopian tube benign neoplasm skos:exactMatch DOID:0060111 fallopian tube benign neoplasm semapv:UnspecifiedMatching MONDO:0000645 fallopian tube benign neoplasm skos:exactMatch NCIT:C4517 Benign Fallopian Tube Neoplasm semapv:UnspecifiedMatching MONDO:0000645 fallopian tube benign neoplasm skos:exactMatch Orphanet:180237 Benign tumor of fallopian tubes semapv:UnspecifiedMatching MONDO:0000645 fallopian tube benign neoplasm skos:exactMatch SCTID:92100009 semapv:UnspecifiedMatching MONDO:0000645 fallopian tube benign neoplasm skos:exactMatch UMLS:C0346190 semapv:UnspecifiedMatching MONDO:0000646 ovarian benign neoplasm skos:exactMatch DOID:0060112 ovarian benign neoplasm semapv:UnspecifiedMatching MONDO:0000646 ovarian benign neoplasm skos:exactMatch NCIT:C2895 Benign Ovarian Neoplasm semapv:UnspecifiedMatching MONDO:0000646 ovarian benign neoplasm skos:exactMatch SCTID:92260003 semapv:UnspecifiedMatching MONDO:0000647 benign vaginal neoplasm skos:exactMatch DOID:0060114 vaginal benign neoplasm semapv:UnspecifiedMatching MONDO:0000647 benign vaginal neoplasm skos:exactMatch NCIT:C3610 Benign Vaginal Neoplasm semapv:UnspecifiedMatching MONDO:0000647 benign vaginal neoplasm skos:exactMatch SCTID:92473001 semapv:UnspecifiedMatching MONDO:0000647 benign vaginal neoplasm skos:exactMatch UMLS:C0154002 semapv:UnspecifiedMatching MONDO:0000648 nervous system benign neoplasm skos:exactMatch DOID:0060115 nervous system benign neoplasm semapv:UnspecifiedMatching MONDO:0000648 nervous system benign neoplasm skos:exactMatch NCIT:C4789 Benign Nervous System Neoplasm semapv:UnspecifiedMatching MONDO:0000648 nervous system benign neoplasm skos:exactMatch SCTID:92247009 semapv:UnspecifiedMatching MONDO:0000648 nervous system benign neoplasm skos:exactMatch UMLS:C0497550 semapv:UnspecifiedMatching MONDO:0000649 sensory system cancer skos:exactMatch DOID:0060116 sensory system cancer semapv:UnspecifiedMatching MONDO:0000650 peritoneal benign neoplasm skos:exactMatch DOID:0060117 peritoneal benign neoplasm semapv:UnspecifiedMatching MONDO:0000650 peritoneal benign neoplasm skos:exactMatch NCIT:C8612 Benign Peritoneal Neoplasm semapv:UnspecifiedMatching MONDO:0000650 peritoneal benign neoplasm skos:exactMatch UMLS:C0496874 semapv:UnspecifiedMatching MONDO:0000651 obsolete thoracic disorder skos:exactMatch DOID:0060118 thoracic disease semapv:UnspecifiedMatching MONDO:0000651 obsolete thoracic disorder skos:exactMatch NCIT:C35742 Thoracic Disorder semapv:UnspecifiedMatching MONDO:0000651 obsolete thoracic disorder skos:exactMatch SCTID:118946009 semapv:UnspecifiedMatching MONDO:0000651 obsolete thoracic disorder skos:exactMatch SCTID:609622007 semapv:UnspecifiedMatching MONDO:0000651 obsolete thoracic disorder skos:exactMatch UMLS:C0039978 semapv:UnspecifiedMatching MONDO:0000651 obsolete thoracic disorder skos:exactMatch UMLS:C3661979 semapv:UnspecifiedMatching MONDO:0000651 obsolete thoracic disorder skos:exactMatch mesh:D013896 semapv:UnspecifiedMatching MONDO:0000652 integumentary system benign neoplasm skos:exactMatch DOID:0060121 integumentary system benign neoplasm semapv:UnspecifiedMatching MONDO:0000653 integumentary system cancer skos:exactMatch DOID:0060122 integumentary system cancer semapv:UnspecifiedMatching MONDO:0000654 benign connective and soft tissue neoplasm skos:exactMatch DOID:0060123 connective tissue benign neoplasm semapv:UnspecifiedMatching MONDO:0000654 benign connective and soft tissue neoplasm skos:exactMatch NCIT:C53684 Benign Connective and Soft Tissue Neoplasm semapv:UnspecifiedMatching MONDO:0000659 delta-heavy chain disease skos:exactMatch DOID:0060129 delta chain disease semapv:UnspecifiedMatching MONDO:0000659 delta-heavy chain disease skos:exactMatch SCTID:20224008 semapv:UnspecifiedMatching MONDO:0000659 delta-heavy chain disease skos:exactMatch UMLS:C0272253 semapv:UnspecifiedMatching MONDO:0000660 akinetopsia skos:exactMatch DOID:0060130 akinetopsia semapv:UnspecifiedMatching MONDO:0000661 alexithymia skos:exactMatch DOID:0060131 alexithymia semapv:UnspecifiedMatching MONDO:0000662 amusia skos:exactMatch DOID:0060132 amusia semapv:UnspecifiedMatching MONDO:0000662 amusia skos:exactMatch UMLS:C0234497 semapv:UnspecifiedMatching MONDO:0000663 anosognosia skos:exactMatch DOID:0060133 anosognosia semapv:UnspecifiedMatching MONDO:0000664 apperceptive agnosia skos:exactMatch DOID:0060134 apperceptive agnosia semapv:UnspecifiedMatching MONDO:0000665 apraxia skos:exactMatch DOID:0060135 apraxia semapv:UnspecifiedMatching MONDO:0000665 apraxia skos:exactMatch ICD10CM:R48.2 Apraxia semapv:UnspecifiedMatching MONDO:0000665 apraxia skos:exactMatch NCIT:C180557 Apraxia semapv:UnspecifiedMatching MONDO:0000665 apraxia skos:exactMatch mesh:D001072 semapv:UnspecifiedMatching MONDO:0000666 associative visual agnosia skos:exactMatch DOID:0060136 associative agnosia semapv:UnspecifiedMatching MONDO:0000667 auditory agnosia skos:exactMatch DOID:0060137 auditory agnosia semapv:UnspecifiedMatching MONDO:0000668 autotopagnosia skos:exactMatch DOID:0060138 autotopagnosia semapv:UnspecifiedMatching MONDO:0000669 color agnosia skos:exactMatch DOID:0060139 color agnosia semapv:UnspecifiedMatching MONDO:0000670 cortical deafness skos:exactMatch DOID:0060140 cortical deafness semapv:UnspecifiedMatching MONDO:0000670 cortical deafness skos:exactMatch UMLS:C0392704 semapv:UnspecifiedMatching MONDO:0000671 finger agnosia skos:exactMatch DOID:0060141 finger agnosia semapv:UnspecifiedMatching MONDO:0000672 form agnosia skos:exactMatch DOID:0060142 form agnosia semapv:UnspecifiedMatching MONDO:0000673 integrative agnosia skos:exactMatch DOID:0060143 integrative agnosia semapv:UnspecifiedMatching MONDO:0000674 mirror agnosia skos:exactMatch DOID:0060144 mirror agnosia semapv:UnspecifiedMatching MONDO:0000675 pain agnosia skos:exactMatch DOID:0060145 pain agnosia semapv:UnspecifiedMatching MONDO:0000675 pain agnosia skos:exactMatch NCIT:C125664 Pain Agnosia semapv:UnspecifiedMatching MONDO:0000676 phonagnosia skos:exactMatch DOID:0060146 phonagnosia semapv:UnspecifiedMatching MONDO:0000677 semantic agnosia skos:exactMatch DOID:0060147 semantic agnosia semapv:UnspecifiedMatching MONDO:0000678 simultanagnosia skos:exactMatch DOID:0060148 simultanagnosia semapv:UnspecifiedMatching MONDO:0000679 social emotional agnosia skos:exactMatch DOID:0060149 social emotional agnosia semapv:UnspecifiedMatching MONDO:0000680 astereognosia skos:exactMatch DOID:0060150 astereognosia semapv:UnspecifiedMatching MONDO:0000681 tactile agnosia skos:exactMatch DOID:0060151 tactile agnosia semapv:UnspecifiedMatching MONDO:0000682 time agnosia skos:exactMatch DOID:0060152 time agnosia semapv:UnspecifiedMatching MONDO:0000683 topographical agnosia skos:exactMatch DOID:0060153 topographical agnosia semapv:UnspecifiedMatching MONDO:0000683 topographical agnosia skos:exactMatch SCTID:83824009 semapv:UnspecifiedMatching MONDO:0000684 verbal auditory agnosia skos:exactMatch DOID:0060154 verbal auditory agnosia semapv:UnspecifiedMatching MONDO:0000685 visual agnosia skos:exactMatch DOID:0060155 visual agnosia semapv:UnspecifiedMatching MONDO:0000685 visual agnosia skos:exactMatch NCIT:C35276 Visual Agnosia semapv:UnspecifiedMatching MONDO:0000685 visual agnosia skos:exactMatch SCTID:25762009 semapv:UnspecifiedMatching MONDO:0000686 alexia without agraphia skos:exactMatch DOID:0060156 visual verbal agnosia semapv:UnspecifiedMatching MONDO:0000686 alexia without agraphia skos:exactMatch mesh:D020237 semapv:UnspecifiedMatching MONDO:0000687 diffuse alopecia areata skos:exactMatch DOID:0060157 diffuse alopecia areata semapv:UnspecifiedMatching MONDO:0000687 diffuse alopecia areata skos:exactMatch SCTID:46586006 semapv:UnspecifiedMatching MONDO:0000687 diffuse alopecia areata skos:exactMatch mesh:C531609 semapv:UnspecifiedMatching MONDO:0000688 inborn organic aciduria skos:exactMatch DOID:0060159 organic acidemia semapv:UnspecifiedMatching MONDO:0000688 inborn organic aciduria skos:exactMatch NCIT:C101334 Organic Acid Metabolism Disorder semapv:UnspecifiedMatching MONDO:0000688 inborn organic aciduria skos:exactMatch Orphanet:289899 Organic aciduria semapv:UnspecifiedMatching MONDO:0000690 body dysmorphic disorder skos:exactMatch DOID:0060163 body dysmorphic disorder semapv:UnspecifiedMatching MONDO:0000690 body dysmorphic disorder skos:exactMatch ICD10CM:F45.22 Body dysmorphic disorder semapv:UnspecifiedMatching MONDO:0000690 body dysmorphic disorder skos:exactMatch SCTID:83482000 semapv:UnspecifiedMatching MONDO:0000690 body dysmorphic disorder skos:exactMatch mesh:D057215 semapv:UnspecifiedMatching MONDO:0000693 bipolar II disorder skos:exactMatch DOID:0060166 bipolar ll disorder semapv:UnspecifiedMatching MONDO:0000693 bipolar II disorder skos:exactMatch SCTID:83225003 semapv:UnspecifiedMatching MONDO:0000694 seasonal affective disorder skos:exactMatch DOID:0060167 seasonal affective disorder semapv:UnspecifiedMatching MONDO:0000694 seasonal affective disorder skos:exactMatch SCTID:247803002 semapv:UnspecifiedMatching MONDO:0000694 seasonal affective disorder skos:exactMatch mesh:D016574 semapv:UnspecifiedMatching MONDO:0000698 gamma-amino butyric acid metabolism disorder skos:exactMatch DOID:0060176 gamma-amino butyric acid metabolism disorder semapv:UnspecifiedMatching MONDO:0000700 familial hemiplegic migraine skos:exactMatch DOID:0060178 familial hemiplegic migraine semapv:UnspecifiedMatching MONDO:0000700 familial hemiplegic migraine skos:exactMatch NCIT:C117009 Familial Hemiplegic Migraine semapv:UnspecifiedMatching MONDO:0000700 familial hemiplegic migraine skos:exactMatch OMIMPS:141500 semapv:UnspecifiedMatching MONDO:0000700 familial hemiplegic migraine skos:exactMatch SCTID:95656000 semapv:UnspecifiedMatching MONDO:0000701 ischemic colitis skos:exactMatch DOID:0060181 ischemic colitis semapv:UnspecifiedMatching MONDO:0000701 ischemic colitis skos:exactMatch SCTID:30588004 semapv:UnspecifiedMatching MONDO:0000701 ischemic colitis skos:exactMatch UMLS:C0162529 semapv:UnspecifiedMatching MONDO:0000701 ischemic colitis skos:exactMatch mesh:D017091 semapv:UnspecifiedMatching MONDO:0000702 microscopic colitis skos:exactMatch DOID:0060182 microscopic colitis semapv:UnspecifiedMatching MONDO:0000702 microscopic colitis skos:exactMatch NCIT:C38504 Microscopic Colitis semapv:UnspecifiedMatching MONDO:0000702 microscopic colitis skos:exactMatch SCTID:235753003 semapv:UnspecifiedMatching MONDO:0000702 microscopic colitis skos:exactMatch UMLS:C0400821 semapv:UnspecifiedMatching MONDO:0000702 microscopic colitis skos:exactMatch mesh:D046728 semapv:UnspecifiedMatching MONDO:0000703 collagenous colitis skos:exactMatch DOID:0060183 collagenous colitis semapv:UnspecifiedMatching MONDO:0000703 collagenous colitis skos:exactMatch ICD10CM:K52.831 Collagenous colitis semapv:UnspecifiedMatching MONDO:0000703 collagenous colitis skos:exactMatch NCIT:C27021 Collagenous Colitis semapv:UnspecifiedMatching MONDO:0000703 collagenous colitis skos:exactMatch SCTID:19311003 semapv:UnspecifiedMatching MONDO:0000703 collagenous colitis skos:exactMatch UMLS:C0238067 semapv:UnspecifiedMatching MONDO:0000703 collagenous colitis skos:exactMatch mesh:D046729 semapv:UnspecifiedMatching MONDO:0000704 lymphocytic colitis skos:exactMatch DOID:0060184 lymphocytic colitis semapv:UnspecifiedMatching MONDO:0000704 lymphocytic colitis skos:exactMatch ICD10CM:K52.832 Lymphocytic colitis semapv:UnspecifiedMatching MONDO:0000704 lymphocytic colitis skos:exactMatch NCIT:C27147 Lymphocytic Colitis semapv:UnspecifiedMatching MONDO:0000704 lymphocytic colitis skos:exactMatch SCTID:31437008 semapv:UnspecifiedMatching MONDO:0000704 lymphocytic colitis skos:exactMatch UMLS:C0400822 semapv:UnspecifiedMatching MONDO:0000704 lymphocytic colitis skos:exactMatch mesh:D046730 semapv:UnspecifiedMatching MONDO:0000705 Clostridium difficile colitis skos:exactMatch DOID:0060185 Clostridium difficile colitis semapv:UnspecifiedMatching MONDO:0000705 Clostridium difficile colitis skos:exactMatch NCIT:C35286 Clostridium difficile Colitis semapv:UnspecifiedMatching MONDO:0000705 Clostridium difficile colitis skos:exactMatch SCTID:423590009 semapv:UnspecifiedMatching MONDO:0000705 Clostridium difficile colitis skos:exactMatch mesh:D004761 semapv:UnspecifiedMatching MONDO:0000706 chemical colitis skos:exactMatch DOID:0060186 chemical colitis semapv:UnspecifiedMatching MONDO:0000706 chemical colitis skos:exactMatch SCTID:72965009 semapv:UnspecifiedMatching MONDO:0000707 diversion colitis skos:exactMatch DOID:0060187 diversion colitis semapv:UnspecifiedMatching MONDO:0000707 diversion colitis skos:exactMatch SCTID:51290000 semapv:UnspecifiedMatching MONDO:0000707 diversion colitis skos:exactMatch UMLS:C0267532 semapv:UnspecifiedMatching MONDO:0000708 Crohn jejunoileitis skos:exactMatch DOID:0060188 jejunoileitis semapv:UnspecifiedMatching MONDO:0000709 Crohn ileitis skos:exactMatch DOID:0060189 ileitis semapv:UnspecifiedMatching MONDO:0000709 Crohn ileitis skos:exactMatch NCIT:C35329 Crohn Ileitis semapv:UnspecifiedMatching MONDO:0000709 Crohn ileitis skos:exactMatch SCTID:52457000 semapv:UnspecifiedMatching MONDO:0000709 Crohn ileitis skos:exactMatch UMLS:C0020877 semapv:UnspecifiedMatching MONDO:0000709 Crohn ileitis skos:exactMatch mesh:D007079 semapv:UnspecifiedMatching MONDO:0000710 gastroduodenal Crohn disease skos:exactMatch DOID:0060191 gastroduodenal Crohn's disease semapv:UnspecifiedMatching MONDO:0000715 lymph node adenoid cystic carcinoma skos:exactMatch DOID:0060219 lymph node adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0000716 agraphia skos:exactMatch DOID:0060223 agraphia semapv:UnspecifiedMatching MONDO:0000716 agraphia skos:exactMatch mesh:D000381 semapv:UnspecifiedMatching MONDO:0000721 xanthinuria skos:exactMatch SCTID:190919008 semapv:UnspecifiedMatching MONDO:0000722 non-syndromic synpolydactyly skos:exactMatch DOID:0060242 synpolydactyly semapv:UnspecifiedMatching MONDO:0000723 stutter disorder skos:exactMatch DOID:0060243 stuttering semapv:UnspecifiedMatching MONDO:0000723 stutter disorder skos:exactMatch NCIT:C35043 Stutter semapv:UnspecifiedMatching MONDO:0000723 stutter disorder skos:exactMatch OMIMPS:184450 semapv:UnspecifiedMatching MONDO:0000724 specific language impairment skos:exactMatch DOID:0060244 specific language impairment semapv:UnspecifiedMatching MONDO:0000724 specific language impairment skos:exactMatch OMIMPS:606711 semapv:UnspecifiedMatching MONDO:0000724 specific language impairment skos:exactMatch UMLS:C0454651 semapv:UnspecifiedMatching MONDO:0000726 idiopathic scoliosis skos:exactMatch DOID:0060250 idiopathic scoliosis semapv:UnspecifiedMatching MONDO:0000726 idiopathic scoliosis skos:exactMatch SCTID:203639008 semapv:UnspecifiedMatching MONDO:0000726 idiopathic scoliosis skos:exactMatch UMLS:C0595995 semapv:UnspecifiedMatching MONDO:0000727 scapuloperoneal myopathy skos:exactMatch DOID:0060253 scapuloperoneal myopathy semapv:UnspecifiedMatching MONDO:0000727 scapuloperoneal myopathy skos:exactMatch UMLS:C2931268 semapv:UnspecifiedMatching MONDO:0000727 scapuloperoneal myopathy skos:exactMatch mesh:C536624 semapv:UnspecifiedMatching MONDO:0000728 ptosis skos:exactMatch DOID:0060260 ptosis semapv:UnspecifiedMatching MONDO:0000728 ptosis skos:exactMatch NCIT:C27298 Ptosis semapv:UnspecifiedMatching MONDO:0000728 ptosis skos:exactMatch SCTID:11934000 semapv:UnspecifiedMatching MONDO:0000728 ptosis skos:exactMatch UMLS:C0005745 semapv:UnspecifiedMatching MONDO:0000728 ptosis skos:exactMatch mesh:D001763 semapv:UnspecifiedMatching MONDO:0000732 combined oxidative phosphorylation deficiency skos:exactMatch DOID:0060286 combined oxidative phosphorylation deficiency semapv:UnspecifiedMatching MONDO:0000732 combined oxidative phosphorylation deficiency skos:exactMatch OMIMPS:609060 semapv:UnspecifiedMatching MONDO:0000733 cornea plana skos:exactMatch DOID:0060287 cornea plana semapv:UnspecifiedMatching MONDO:0000733 cornea plana skos:exactMatch OMIMPS:121400 semapv:UnspecifiedMatching MONDO:0000733 cornea plana skos:exactMatch SCTID:204145006 semapv:UnspecifiedMatching MONDO:0000734 Ohdo syndrome and variants skos:exactMatch DOID:0060289 Ohdo syndrome semapv:UnspecifiedMatching MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch DOID:0060304 dyschromatosis universalis hereditaria semapv:UnspecifiedMatching MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch NCIT:C173131 Dyschromatosis Universalis Hereditaria semapv:UnspecifiedMatching MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch OMIMPS:127500 semapv:UnspecifiedMatching MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:UnspecifiedMatching MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch SCTID:239082002 semapv:UnspecifiedMatching MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch UMLS:C2930995 semapv:UnspecifiedMatching MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch mesh:C535730 semapv:UnspecifiedMatching MONDO:0000739 uvulitis skos:exactMatch DOID:0060310 uvulitis semapv:UnspecifiedMatching MONDO:0000739 uvulitis skos:exactMatch NCIT:C128385 Uvulitis semapv:UnspecifiedMatching MONDO:0000739 uvulitis skos:exactMatch SCTID:300932000 semapv:UnspecifiedMatching MONDO:0000739 uvulitis skos:exactMatch UMLS:C0042174 semapv:UnspecifiedMatching MONDO:0000740 adenoid hypertrophy skos:exactMatch DOID:0060311 adenoid hypertrophy semapv:UnspecifiedMatching MONDO:0000740 adenoid hypertrophy skos:exactMatch SCTID:111591002 semapv:UnspecifiedMatching MONDO:0000740 adenoid hypertrophy skos:exactMatch UMLS:C0455938 semapv:UnspecifiedMatching MONDO:0000741 angular cheilitis skos:exactMatch DOID:0060312 angular cheilitis semapv:UnspecifiedMatching MONDO:0000741 angular cheilitis skos:exactMatch NCIT:C112198 Angular Cheilitis semapv:UnspecifiedMatching MONDO:0000741 angular cheilitis skos:exactMatch SCTID:16459000 semapv:UnspecifiedMatching MONDO:0000741 angular cheilitis skos:exactMatch UMLS:C0221237 semapv:UnspecifiedMatching MONDO:0000742 obsolete persistent generalized lymphadenopathy skos:exactMatch DOID:0060314 persistent generalized lymphadenopathy semapv:UnspecifiedMatching MONDO:0000742 obsolete persistent generalized lymphadenopathy skos:exactMatch SCTID:95892003 semapv:UnspecifiedMatching MONDO:0000743 oral hairy leukoplakia skos:exactMatch DOID:0060315 oral hairy leukoplakia semapv:UnspecifiedMatching MONDO:0000743 oral hairy leukoplakia skos:exactMatch ICD10CM:K13.3 Hairy leukoplakia semapv:UnspecifiedMatching MONDO:0000743 oral hairy leukoplakia skos:exactMatch NCIT:C3722 Oral Cavity Hairy Leukoplakia semapv:UnspecifiedMatching MONDO:0000743 oral hairy leukoplakia skos:exactMatch SCTID:414952002 semapv:UnspecifiedMatching MONDO:0000743 oral hairy leukoplakia skos:exactMatch UMLS:C0206186 semapv:UnspecifiedMatching MONDO:0000743 oral hairy leukoplakia skos:exactMatch mesh:D017733 semapv:UnspecifiedMatching MONDO:0000744 lung abscess skos:exactMatch DOID:0060317 lung abscess semapv:UnspecifiedMatching MONDO:0000744 lung abscess skos:exactMatch NCIT:C99090 Lung Abscess semapv:UnspecifiedMatching MONDO:0000744 lung abscess skos:exactMatch SCTID:73452002 semapv:UnspecifiedMatching MONDO:0000744 lung abscess skos:exactMatch UMLS:C0024110 semapv:UnspecifiedMatching MONDO:0000744 lung abscess skos:exactMatch mesh:D008169 semapv:UnspecifiedMatching MONDO:0000745 cardiac arrest skos:exactMatch DOID:0060319 cardiac arrest semapv:UnspecifiedMatching MONDO:0000745 cardiac arrest skos:exactMatch ICD10CM:I46 Cardiac arrest semapv:UnspecifiedMatching MONDO:0000745 cardiac arrest skos:exactMatch SCTID:410429000 semapv:UnspecifiedMatching MONDO:0000745 cardiac arrest skos:exactMatch UMLS:C0018790 semapv:UnspecifiedMatching MONDO:0000745 cardiac arrest skos:exactMatch mesh:D006323 semapv:UnspecifiedMatching MONDO:0000746 obsolete inguinal hernia skos:exactMatch DOID:0060320 inguinal hernia semapv:UnspecifiedMatching MONDO:0000746 obsolete inguinal hernia skos:exactMatch NCIT:C34690 Inguinal Hernia semapv:UnspecifiedMatching MONDO:0000746 obsolete inguinal hernia skos:exactMatch SCTID:396232000 semapv:UnspecifiedMatching MONDO:0000746 obsolete inguinal hernia skos:exactMatch mesh:D006552 semapv:UnspecifiedMatching MONDO:0000747 obsolete umbilical hernia skos:exactMatch DOID:0060321 umbilical hernia semapv:UnspecifiedMatching MONDO:0000747 obsolete umbilical hernia skos:exactMatch NCIT:C118375 Umbilical Hernia semapv:UnspecifiedMatching MONDO:0000747 obsolete umbilical hernia skos:exactMatch SCTID:396347007 semapv:UnspecifiedMatching MONDO:0000747 obsolete umbilical hernia skos:exactMatch UMLS:C0019322 semapv:UnspecifiedMatching MONDO:0000747 obsolete umbilical hernia skos:exactMatch mesh:D006554 semapv:UnspecifiedMatching MONDO:0000748 mastoiditis skos:exactMatch DOID:0060322 mastoiditis semapv:UnspecifiedMatching MONDO:0000748 mastoiditis skos:exactMatch NCIT:C128368 Mastoiditis semapv:UnspecifiedMatching MONDO:0000748 mastoiditis skos:exactMatch SCTID:52404001 semapv:UnspecifiedMatching MONDO:0000748 mastoiditis skos:exactMatch UMLS:C0024904 semapv:UnspecifiedMatching MONDO:0000748 mastoiditis skos:exactMatch mesh:D008417 semapv:UnspecifiedMatching MONDO:0000749 breast abscess skos:exactMatch DOID:0060323 breast abscess semapv:UnspecifiedMatching MONDO:0000749 breast abscess skos:exactMatch SCTID:28432003 semapv:UnspecifiedMatching MONDO:0000749 breast abscess skos:exactMatch UMLS:C0151463 semapv:UnspecifiedMatching MONDO:0000750 dental abscess skos:exactMatch DOID:0060324 dental abscess semapv:UnspecifiedMatching MONDO:0000750 dental abscess skos:exactMatch SCTID:299709002 semapv:UnspecifiedMatching MONDO:0000750 dental abscess skos:exactMatch UMLS:C0518988 semapv:UnspecifiedMatching MONDO:0000751 cervical polyp skos:exactMatch DOID:0060325 cervical polyp semapv:UnspecifiedMatching MONDO:0000751 cervical polyp skos:exactMatch NCIT:C2939 Cervical Polyp semapv:UnspecifiedMatching MONDO:0000751 cervical polyp skos:exactMatch SCTID:65576009 semapv:UnspecifiedMatching MONDO:0000751 cervical polyp skos:exactMatch UMLS:C0007855 semapv:UnspecifiedMatching MONDO:0000754 anal fistula skos:exactMatch DOID:0060328 anal fistula semapv:UnspecifiedMatching MONDO:0000754 anal fistula skos:exactMatch ICD10CM:K60.3 Anal fistula semapv:UnspecifiedMatching MONDO:0000754 anal fistula skos:exactMatch NCIT:C60785 Anorectal Fistula semapv:UnspecifiedMatching MONDO:0000754 anal fistula skos:exactMatch Orphanet:228113 Anal fistula semapv:UnspecifiedMatching MONDO:0000754 anal fistula skos:exactMatch SCTID:72779005 semapv:UnspecifiedMatching MONDO:0000754 anal fistula skos:exactMatch mesh:D012003 semapv:UnspecifiedMatching MONDO:0000755 ectopic pregnancy skos:exactMatch DOID:0060329 ectopic pregnancy semapv:UnspecifiedMatching MONDO:0000755 ectopic pregnancy skos:exactMatch NCIT:C34945 Ectopic Pregnancy semapv:UnspecifiedMatching MONDO:0000755 ectopic pregnancy skos:exactMatch SCTID:34801009 semapv:UnspecifiedMatching MONDO:0000755 ectopic pregnancy skos:exactMatch mesh:D011271 semapv:UnspecifiedMatching MONDO:0000756 parameningeal embryonal rhabdomyosarcoma skos:exactMatch DOID:0060338 parameningeal embryonal rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0000757 glucocorticoid-induced osteoporosis skos:exactMatch DOID:0060343 glucocorticoid-induced osteoporosis semapv:UnspecifiedMatching MONDO:0000758 bacillary angiomatosis skos:exactMatch DOID:0060345 bacillary angiomatosis semapv:UnspecifiedMatching MONDO:0000758 bacillary angiomatosis skos:exactMatch NCIT:C3477 Bacillary Angiomatosis semapv:UnspecifiedMatching MONDO:0000758 bacillary angiomatosis skos:exactMatch SCTID:58213005 semapv:UnspecifiedMatching MONDO:0000758 bacillary angiomatosis skos:exactMatch UMLS:C0085434 semapv:UnspecifiedMatching MONDO:0000758 bacillary angiomatosis skos:exactMatch mesh:D016917 semapv:UnspecifiedMatching MONDO:0000761 syndrome caused by partial chromosomal deletion skos:exactMatch DOID:0060388 chromosomal deletion syndrome semapv:UnspecifiedMatching MONDO:0000762 syndrome caused by partial chromosomal duplication skos:exactMatch DOID:0060429 chromosomal duplication syndrome semapv:UnspecifiedMatching MONDO:0000763 epithelial and subepithelial corneal dystrophy skos:exactMatch DOID:0060440 epithelial and subepithelial dystrophy semapv:UnspecifiedMatching MONDO:0000764 epithelial-stromal TGFBI dystrophy skos:exactMatch DOID:0060441 epithelial-stromal TGFBI dystrophy semapv:UnspecifiedMatching MONDO:0000766 corneal endothelial dystrophy skos:exactMatch DOID:0060443 corneal endothelial dystrophy semapv:UnspecifiedMatching MONDO:0000766 corneal endothelial dystrophy skos:exactMatch SCTID:416960004 semapv:UnspecifiedMatching MONDO:0000769 obsolete chicken egg allergy skos:exactMatch DOID:0060492 chicken egg allergy semapv:UnspecifiedMatching MONDO:0000770 obsolete shellfish allergy skos:exactMatch DOID:0060495 shellfish allergy semapv:UnspecifiedMatching MONDO:0000770 obsolete shellfish allergy skos:exactMatch NCIT:C172320 Shellfish Allergy semapv:UnspecifiedMatching MONDO:0000770 obsolete shellfish allergy skos:exactMatch SCTID:300913006 semapv:UnspecifiedMatching MONDO:0000770 obsolete shellfish allergy skos:exactMatch UMLS:C0577625 semapv:UnspecifiedMatching MONDO:0000770 obsolete shellfish allergy skos:exactMatch mesh:D000067208 semapv:UnspecifiedMatching MONDO:0000771 allergic respiratory disease skos:exactMatch DOID:0060496 respiratory allergy semapv:UnspecifiedMatching MONDO:0000772 obsolete pollen allergy skos:exactMatch DOID:0060497 pollen allergy semapv:UnspecifiedMatching MONDO:0000773 obsolete Timothy grass allergy skos:exactMatch DOID:0060498 Timothy grass allergy semapv:UnspecifiedMatching MONDO:0000774 autoimmune neuropathy skos:exactMatch DOID:0040087 autoimmune peripheral neuropathy semapv:UnspecifiedMatching MONDO:0000774 autoimmune neuropathy skos:exactMatch DOID:0060499 autoimmune neuropathy semapv:UnspecifiedMatching MONDO:0000775 drug allergy skos:exactMatch DOID:0060500 drug allergy semapv:UnspecifiedMatching MONDO:0000775 drug allergy skos:exactMatch mesh:D004342 semapv:UnspecifiedMatching MONDO:0000776 obsolete metal allergy skos:exactMatch DOID:0060501 metal allergy semapv:UnspecifiedMatching MONDO:0000776 obsolete metal allergy skos:exactMatch SCTID:300915004 semapv:UnspecifiedMatching MONDO:0000776 obsolete metal allergy skos:exactMatch UMLS:C0577627 semapv:UnspecifiedMatching MONDO:0000777 gastrointestinal allergy skos:exactMatch DOID:0060502 gastrointestinal allergy semapv:UnspecifiedMatching MONDO:0000778 obsolete fruit allergy skos:exactMatch DOID:0060503 fruit allergy semapv:UnspecifiedMatching MONDO:0000778 obsolete fruit allergy skos:exactMatch NCIT:C172316 Fruit Allergy semapv:UnspecifiedMatching MONDO:0000779 obsolete apple allergy skos:exactMatch DOID:0060504 apple allergy semapv:UnspecifiedMatching MONDO:0000780 obsolete apricot allergy skos:exactMatch DOID:0060505 apricot allergy semapv:UnspecifiedMatching MONDO:0000781 obsolete cherry allergy skos:exactMatch DOID:0060506 cherry allergy semapv:UnspecifiedMatching MONDO:0000782 obsolete Indian plum allergy skos:exactMatch DOID:0060507 Indian plum allergy semapv:UnspecifiedMatching MONDO:0000783 obsolete orange allergy skos:exactMatch DOID:0060508 orange allergy semapv:UnspecifiedMatching MONDO:0000784 obsolete melon allergy skos:exactMatch DOID:0060509 melon allergy semapv:UnspecifiedMatching MONDO:0000785 obsolete peach allergy skos:exactMatch DOID:0060510 peach allergy semapv:UnspecifiedMatching MONDO:0000786 obsolete plum allergy skos:exactMatch DOID:0060511 plum allergy semapv:UnspecifiedMatching MONDO:0000787 obsolete tomato allergy skos:exactMatch DOID:0060512 tomato allergy semapv:UnspecifiedMatching MONDO:0000788 obsolete fish allergy skos:exactMatch DOID:0060513 fish allergy semapv:UnspecifiedMatching MONDO:0000789 obsolete Atlantic cod allergy skos:exactMatch DOID:0060514 Atlantic cod allergy semapv:UnspecifiedMatching MONDO:0000790 obsolete Atlantic salmon allergy skos:exactMatch DOID:0060515 Atlantic salmon allergy semapv:UnspecifiedMatching MONDO:0000791 obsolete carp allergy skos:exactMatch DOID:0060516 carp allergy semapv:UnspecifiedMatching MONDO:0000792 obsolete zebrafish allergy skos:exactMatch DOID:0060517 zebrafish allergy semapv:UnspecifiedMatching MONDO:0000793 obsolete rainbow trout allergy skos:exactMatch DOID:0060518 rainbow trout allergy semapv:UnspecifiedMatching MONDO:0000794 obsolete beta-lactam allergy skos:exactMatch DOID:0060519 beta-lactam allergy semapv:UnspecifiedMatching MONDO:0000795 obsolete penicillin allergy skos:exactMatch DOID:0060520 penicillin allergy semapv:UnspecifiedMatching MONDO:0000795 obsolete penicillin allergy skos:exactMatch NCIT:C34911 Penicillin Allergy semapv:UnspecifiedMatching MONDO:0000795 obsolete penicillin allergy skos:exactMatch SCTID:91936005 semapv:UnspecifiedMatching MONDO:0000795 obsolete penicillin allergy skos:exactMatch UMLS:C0030824 semapv:UnspecifiedMatching MONDO:0000796 obsolete cow milk allergy skos:exactMatch DOID:0060521 cow milk allergy semapv:UnspecifiedMatching MONDO:0000797 obsolete goat milk allergy skos:exactMatch DOID:0060522 goat milk allergy semapv:UnspecifiedMatching MONDO:0000798 obsolete mollusc allergy skos:exactMatch DOID:0060523 mollusc allergy semapv:UnspecifiedMatching MONDO:0000799 obsolete crustacean allergy skos:exactMatch DOID:0060524 crustacean allergy semapv:UnspecifiedMatching MONDO:0000800 obsolete brown shrimp allergy skos:exactMatch DOID:0060525 brown shrimp allergy semapv:UnspecifiedMatching MONDO:0000801 obsolete green mud crab allergy skos:exactMatch DOID:0060526 crab allergy semapv:UnspecifiedMatching MONDO:0000802 obsolete Indian prawn allergy skos:exactMatch DOID:0060527 Indian prawn allergy semapv:UnspecifiedMatching MONDO:0000803 obsolete tiger prawn allergy skos:exactMatch DOID:0060528 tiger prawn allergy semapv:UnspecifiedMatching MONDO:0000804 obsolete white shrimp allergy skos:exactMatch DOID:0060529 white shrimp allergy semapv:UnspecifiedMatching MONDO:0000805 obsolete snail allergy skos:exactMatch DOID:0060530 snail allergy semapv:UnspecifiedMatching MONDO:0000806 obsolete horned turban snail allergy skos:exactMatch DOID:0060531 horned turban snail allergy semapv:UnspecifiedMatching MONDO:0000807 latex allergy skos:exactMatch DOID:0060532 latex allergy semapv:UnspecifiedMatching MONDO:0000807 latex allergy skos:exactMatch SCTID:300916003 semapv:UnspecifiedMatching MONDO:0000807 latex allergy skos:exactMatch mesh:D020315 semapv:UnspecifiedMatching MONDO:0000809 purpura fulminans skos:exactMatch DOID:0060538 purpura fulminans semapv:UnspecifiedMatching MONDO:0000809 purpura fulminans skos:exactMatch SCTID:13507004 semapv:UnspecifiedMatching MONDO:0000809 purpura fulminans skos:exactMatch mesh:D055665 semapv:UnspecifiedMatching MONDO:0000811 anomalous left coronary artery from the pulmonary artery skos:exactMatch DOID:0060562 anomalous left coronary artery from the pulmonary artery semapv:UnspecifiedMatching MONDO:0000811 anomalous left coronary artery from the pulmonary artery skos:exactMatch UMLS:C1735886 semapv:UnspecifiedMatching MONDO:0000811 anomalous left coronary artery from the pulmonary artery skos:exactMatch mesh:D063748 semapv:UnspecifiedMatching MONDO:0000812 vertebral column disorder skos:exactMatch DOID:0060564 spinal disease semapv:UnspecifiedMatching MONDO:0000812 vertebral column disorder skos:exactMatch SCTID:699699005 semapv:UnspecifiedMatching MONDO:0000812 vertebral column disorder skos:exactMatch UMLS:C0037933 semapv:UnspecifiedMatching MONDO:0000812 vertebral column disorder skos:exactMatch mesh:D013122 semapv:UnspecifiedMatching MONDO:0000813 cardiac tuberculosis skos:exactMatch DOID:0060570 cardiac tuberculosis semapv:UnspecifiedMatching MONDO:0000813 cardiac tuberculosis skos:exactMatch UMLS:C0041308 semapv:UnspecifiedMatching MONDO:0000813 cardiac tuberculosis skos:exactMatch mesh:D014381 semapv:UnspecifiedMatching MONDO:0000814 B-cell adult acute lymphocytic leukemia skos:exactMatch DOID:0060592 B-cell adult acute lymphocytic leukemia semapv:UnspecifiedMatching MONDO:0000814 B-cell adult acute lymphocytic leukemia skos:exactMatch NCIT:C9143 Adult B Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO:0000814 B-cell adult acute lymphocytic leukemia skos:exactMatch UMLS:C0279593 semapv:UnspecifiedMatching MONDO:0000815 fetal nicotine spectrum disorder skos:exactMatch DOID:0060606 fetal nicotine spectrum disorder semapv:UnspecifiedMatching MONDO:0000816 abdominal obesity-metabolic syndrome skos:exactMatch DOID:0060611 abdominal obesity-metabolic syndrome semapv:UnspecifiedMatching MONDO:0000816 abdominal obesity-metabolic syndrome skos:exactMatch ICD10CM:E88.81 Metabolic syndrome semapv:UnspecifiedMatching MONDO:0000816 abdominal obesity-metabolic syndrome skos:exactMatch NCIT:C84442 Metabolic Syndrome semapv:UnspecifiedMatching MONDO:0000816 abdominal obesity-metabolic syndrome skos:exactMatch OMIMPS:605552 semapv:UnspecifiedMatching MONDO:0000816 abdominal obesity-metabolic syndrome skos:exactMatch UMLS:C2930930 semapv:UnspecifiedMatching MONDO:0000816 abdominal obesity-metabolic syndrome skos:exactMatch mesh:C535554 semapv:UnspecifiedMatching MONDO:0000819 anencephaly skos:exactMatch DOID:0060668 anencephaly semapv:UnspecifiedMatching MONDO:0000819 anencephaly skos:exactMatch NCIT:C84560 Anencephaly semapv:UnspecifiedMatching MONDO:0000819 anencephaly skos:exactMatch OMIMPS:206500 semapv:UnspecifiedMatching MONDO:0000819 anencephaly skos:exactMatch mesh:D000757 semapv:UnspecifiedMatching MONDO:0000820 cerebral cavernous malformation skos:exactMatch DOID:0060669 cerebral cavernous malformation semapv:UnspecifiedMatching MONDO:0000820 cerebral cavernous malformation skos:exactMatch NCIT:C84626 Cerebral Cavernous Malformation semapv:UnspecifiedMatching MONDO:0000824 congenital diarrhea skos:exactMatch DOID:0060774 congenital diarrhea semapv:UnspecifiedMatching MONDO:0000824 congenital diarrhea skos:exactMatch OMIMPS:214700 semapv:UnspecifiedMatching MONDO:0000824 congenital diarrhea skos:exactMatch UMLS:CN232319 semapv:UnspecifiedMatching MONDO:0000827 salmonellosis skos:exactMatch DOID:0060859 salmonellosis semapv:UnspecifiedMatching MONDO:0000827 salmonellosis skos:exactMatch NCIT:C157974 Salmonellosis semapv:UnspecifiedMatching MONDO:0000827 salmonellosis skos:exactMatch Orphanet:795 Rare form of salmonellosis semapv:UnspecifiedMatching MONDO:0000827 salmonellosis skos:exactMatch SCTID:302231008 semapv:UnspecifiedMatching MONDO:0000827 salmonellosis skos:exactMatch UMLS:C0036117 semapv:UnspecifiedMatching MONDO:0000827 salmonellosis skos:exactMatch mesh:D012480 semapv:UnspecifiedMatching MONDO:0000828 juvenile-onset Parkinson disease skos:exactMatch DOID:0060893 juvenile-onset Parkinson's disease semapv:UnspecifiedMatching MONDO:0000831 thrombotic disease skos:exactMatch DOID:0060903 thrombosis semapv:UnspecifiedMatching MONDO:0000831 thrombotic disease skos:exactMatch NCIT:C26891 Thrombosis semapv:UnspecifiedMatching MONDO:0000831 thrombotic disease skos:exactMatch SCTID:439127006 semapv:UnspecifiedMatching MONDO:0000831 thrombotic disease skos:exactMatch mesh:D013927 semapv:UnspecifiedMatching MONDO:0000833 bone remodeling disease skos:exactMatch DOID:0080005 bone remodeling disease semapv:UnspecifiedMatching MONDO:0000834 obsolete bone deterioration disease skos:exactMatch DOID:0080007 bone deterioration disease semapv:UnspecifiedMatching MONDO:0000836 disease of bone structure skos:exactMatch DOID:0080010 bone structure disease semapv:UnspecifiedMatching MONDO:0000837 bone resorption disease skos:exactMatch DOID:0080011 bone resorption disease semapv:UnspecifiedMatching MONDO:0000837 bone resorption disease skos:exactMatch mesh:D001862 semapv:UnspecifiedMatching MONDO:0000839 obsolete congenital abnormality skos:exactMatch DOID:0080015 physical disorder semapv:UnspecifiedMatching MONDO:0000839 obsolete congenital abnormality skos:exactMatch NCIT:C2849 Congenital Abnormality semapv:UnspecifiedMatching MONDO:0000839 obsolete congenital abnormality skos:exactMatch SCTID:276654001 semapv:UnspecifiedMatching MONDO:0000839 obsolete congenital abnormality skos:exactMatch UMLS:CN232116 semapv:UnspecifiedMatching MONDO:0000839 obsolete congenital abnormality skos:exactMatch mesh:D000013 semapv:UnspecifiedMatching MONDO:0000840 dysbaric osteonecrosis skos:exactMatch DOID:0080018 dysbaric osteonecrosis semapv:UnspecifiedMatching MONDO:0000840 dysbaric osteonecrosis skos:exactMatch SCTID:431591000124102 semapv:UnspecifiedMatching MONDO:0000845 fibrous dysplasia skos:exactMatch DOID:0080031 fibrous dysplasia semapv:UnspecifiedMatching MONDO:0000845 fibrous dysplasia skos:exactMatch NCIT:C34609 Fibrous Dysplasia semapv:UnspecifiedMatching MONDO:0000845 fibrous dysplasia skos:exactMatch Orphanet:249 Fibrous dysplasia of bone semapv:UnspecifiedMatching MONDO:0000845 fibrous dysplasia skos:exactMatch SCTID:10623005 semapv:UnspecifiedMatching MONDO:0000845 fibrous dysplasia skos:exactMatch SCTID:254145001 semapv:UnspecifiedMatching MONDO:0000845 fibrous dysplasia skos:exactMatch mesh:D005357 semapv:UnspecifiedMatching MONDO:0000849 fibrogenesis imperfecta ossium skos:exactMatch DOID:0080040 fibrogenesis imperfecta ossium semapv:UnspecifiedMatching MONDO:0000857 obsolete Charcot-Marie-Tooth disease type 7 skos:exactMatch DOID:0080069 Charcot-Marie-Tooth disease type 7 semapv:UnspecifiedMatching MONDO:0000858 neuronal intestinal dysplasia skos:exactMatch DOID:0080072 intestinal pseudo-obstruction semapv:UnspecifiedMatching MONDO:0000858 neuronal intestinal dysplasia skos:exactMatch SCTID:253783001 semapv:UnspecifiedMatching MONDO:0000858 neuronal intestinal dysplasia skos:exactMatch UMLS:C0345244 semapv:UnspecifiedMatching MONDO:0000859 spina bifida occulta skos:exactMatch DOID:0080073 spina bifida occulta semapv:UnspecifiedMatching MONDO:0000859 spina bifida occulta skos:exactMatch NCIT:C101044 Spina Bifida Occulta semapv:UnspecifiedMatching MONDO:0000859 spina bifida occulta skos:exactMatch SCTID:76916001 semapv:UnspecifiedMatching MONDO:0000859 spina bifida occulta skos:exactMatch mesh:D016136 semapv:UnspecifiedMatching MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia semapv:UnspecifiedMatching MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch OMIMPS:600462 semapv:UnspecifiedMatching MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:UnspecifiedMatching MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch SCTID:724138007 semapv:UnspecifiedMatching MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch UMLS:C1838103 semapv:UnspecifiedMatching MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch mesh:C536101 semapv:UnspecifiedMatching MONDO:0000866 hereditary myoglobinuria skos:exactMatch DOID:0080108 myoglobinuria semapv:UnspecifiedMatching MONDO:0000866 hereditary myoglobinuria skos:exactMatch ICD10CM:R82.1 Myoglobinuria semapv:UnspecifiedMatching MONDO:0000866 hereditary myoglobinuria skos:exactMatch NCIT:C114705 Myoglobinuria semapv:UnspecifiedMatching MONDO:0000866 hereditary myoglobinuria skos:exactMatch mesh:D009212 semapv:UnspecifiedMatching MONDO:0000870 childhood acute lymphoblastic leukemia skos:exactMatch DOID:0080144 childhood acute lymphocytic leukemia semapv:UnspecifiedMatching MONDO:0000870 childhood acute lymphoblastic leukemia skos:exactMatch NCIT:C3168 Childhood Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO:0000871 T-cell childhood acute lymphocytic leukemia skos:exactMatch DOID:0080145 childhood T-cell acute lymphoblastic leukemia semapv:UnspecifiedMatching MONDO:0000871 T-cell childhood acute lymphocytic leukemia skos:exactMatch NCIT:C7953 Childhood T Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO:0000871 T-cell childhood acute lymphocytic leukemia skos:exactMatch UMLS:C0279583 semapv:UnspecifiedMatching MONDO:0000872 B-cell childhood acute lymphoblastic leukemia skos:exactMatch DOID:0080146 childhood B-cell acute lymphoblastic leukemia semapv:UnspecifiedMatching MONDO:0000872 B-cell childhood acute lymphoblastic leukemia skos:exactMatch NCIT:C9140 Childhood B Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO:0000872 B-cell childhood acute lymphoblastic leukemia skos:exactMatch UMLS:C0279584 semapv:UnspecifiedMatching MONDO:0000873 lymphoblastic lymphoma skos:exactMatch DOID:0080147 lymphoblastic lymphoma semapv:UnspecifiedMatching MONDO:0000873 lymphoblastic lymphoma skos:exactMatch NCIT:C9360 Lymphoblastic Lymphoma semapv:UnspecifiedMatching MONDO:0000873 lymphoblastic lymphoma skos:exactMatch SCTID:109965004 semapv:UnspecifiedMatching MONDO:0000873 lymphoblastic lymphoma skos:exactMatch UMLS:C0079748 semapv:UnspecifiedMatching MONDO:0000874 T-cell childhood lymphoblastic lymphoma skos:exactMatch DOID:0080148 T-cell childhood lymphoblastic lymphoma semapv:UnspecifiedMatching MONDO:0000874 T-cell childhood lymphoblastic lymphoma skos:exactMatch NCIT:C7210 Childhood T Lymphoblastic Lymphoma semapv:UnspecifiedMatching MONDO:0000874 T-cell childhood lymphoblastic lymphoma skos:exactMatch UMLS:C1332998 semapv:UnspecifiedMatching MONDO:0000875 adult acute monocytic leukemia skos:exactMatch DOID:0080149 adult acute monocytic leukemia semapv:UnspecifiedMatching MONDO:0000875 adult acute monocytic leukemia skos:exactMatch NCIT:C8263 Adult Acute Monocytic Leukemia semapv:UnspecifiedMatching MONDO:0000875 adult acute monocytic leukemia skos:exactMatch UMLS:C0280634 semapv:UnspecifiedMatching MONDO:0000878 cytomegalovirus retinitis skos:exactMatch DOID:0080160 Cytomegalovirus retinitis semapv:UnspecifiedMatching MONDO:0000878 cytomegalovirus retinitis skos:exactMatch NCIT:C50521 Cytomegaloviral Retinitis semapv:UnspecifiedMatching MONDO:0000878 cytomegalovirus retinitis skos:exactMatch SCTID:22455005 semapv:UnspecifiedMatching MONDO:0000878 cytomegalovirus retinitis skos:exactMatch mesh:D017726 semapv:UnspecifiedMatching MONDO:0000879 cutaneous candidiasis skos:exactMatch DOID:0080161 cutaneous candidiasis semapv:UnspecifiedMatching MONDO:0000879 cutaneous candidiasis skos:exactMatch UMLS:C0006846 semapv:UnspecifiedMatching MONDO:0000879 cutaneous candidiasis skos:exactMatch mesh:D002179 semapv:UnspecifiedMatching MONDO:0000884 myeloid and lymphoid neoplasms associated with FGFR1 abnormalities skos:exactMatch DOID:0080167 myeloid and lymphoid neoplasms associated with FGFR1 abnormalities semapv:UnspecifiedMatching MONDO:0000888 gastrointestinal mucositis skos:exactMatch DOID:0080178 mucositis semapv:UnspecifiedMatching MONDO:0000888 gastrointestinal mucositis skos:exactMatch NCIT:C3853 Gastrointestinal Mucositis semapv:UnspecifiedMatching MONDO:0000888 gastrointestinal mucositis skos:exactMatch SCTID:95518006 semapv:UnspecifiedMatching MONDO:0000888 gastrointestinal mucositis skos:exactMatch UMLS:C0521585 semapv:UnspecifiedMatching MONDO:0000889 haemophilus meningitis skos:exactMatch DOID:0080179 haemophilus meningitis semapv:UnspecifiedMatching MONDO:0000889 haemophilus meningitis skos:exactMatch SCTID:192643004 semapv:UnspecifiedMatching MONDO:0000889 haemophilus meningitis skos:exactMatch SCTID:5900006 semapv:UnspecifiedMatching MONDO:0000889 haemophilus meningitis skos:exactMatch mesh:D008583 semapv:UnspecifiedMatching MONDO:0000890 Zika virus congenital syndrome skos:exactMatch DOID:0080180 Zika virus congenital syndrome semapv:UnspecifiedMatching MONDO:0000891 mixed fibrolamellar hepatocellular carcinoma skos:exactMatch DOID:0080182 mixed fibrolamellar hepatocellular carcinoma semapv:UnspecifiedMatching MONDO:0000892 colon medullary carcinoma skos:exactMatch DOID:0080183 medullary colon carcinoma semapv:UnspecifiedMatching MONDO:0000892 colon medullary carcinoma skos:exactMatch NCIT:C60641 Colon Medullary Carcinoma semapv:UnspecifiedMatching MONDO:0000892 colon medullary carcinoma skos:exactMatch UMLS:C1880119 semapv:UnspecifiedMatching MONDO:0000893 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma skos:exactMatch DOID:0080184 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma semapv:UnspecifiedMatching MONDO:0000893 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma skos:exactMatch NCIT:C7270 Minimally Invasive Lung Mixed Non-Mucinous and Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0000893 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma skos:exactMatch UMLS:C1266036 semapv:UnspecifiedMatching MONDO:0000894 mucinous bronchioloalveolar adenocarcinoma skos:exactMatch DOID:0080185 mucinous bronchioloalveolar adenocarcinoma semapv:UnspecifiedMatching MONDO:0000895 nonmucinous bronchioloalveolar adenocarcinoma skos:exactMatch DOID:0080186 nonmucinous bronchioloalveolar adenocarcinoma semapv:UnspecifiedMatching MONDO:0000898 malignant hemangioma skos:exactMatch DOID:0080189 malignant hemangioma semapv:UnspecifiedMatching MONDO:0000898 malignant hemangioma skos:exactMatch UMLS:C0474836 semapv:UnspecifiedMatching MONDO:0000901 relapsed/refractory diffuse large B-cell lymphoma skos:exactMatch DOID:0080192 relapsed/refractory diffuse large B-cell lymphoma semapv:UnspecifiedMatching MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy semapv:UnspecifiedMatching MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy semapv:UnspecifiedMatching MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:UnspecifiedMatching MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch SCTID:702439002 semapv:UnspecifiedMatching MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch UMLS:C0795950 semapv:UnspecifiedMatching MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch mesh:C536446 semapv:UnspecifiedMatching MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch DOID:0090033 myoclonic dystonia semapv:UnspecifiedMatching MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:UnspecifiedMatching MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch SCTID:439732004 semapv:UnspecifiedMatching MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch mesh:C536096 semapv:UnspecifiedMatching MONDO:0000904 complex cortical dysplasia with other brain malformations skos:exactMatch DOID:0090131 complex cortical dysplasia with other brain malformations semapv:UnspecifiedMatching MONDO:0000904 complex cortical dysplasia with other brain malformations skos:exactMatch OMIMPS:614039 semapv:UnspecifiedMatching MONDO:0000904 complex cortical dysplasia with other brain malformations skos:exactMatch UMLS:CN228165 semapv:UnspecifiedMatching MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:exactMatch DOID:0110084 arrhythmogenic right ventricular dysplasia 13 semapv:UnspecifiedMatching MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:exactMatch OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 semapv:UnspecifiedMatching MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:exactMatch UMLS:C3810138 semapv:UnspecifiedMatching MONDO:0000909 Bartter disease type 4B skos:exactMatch DOID:0110146 Bartter disease type 4b semapv:UnspecifiedMatching MONDO:0000909 Bartter disease type 4B skos:exactMatch OMIM:613090 bartter syndrome, iia 4b, neonatal, with sensorineural deafness semapv:UnspecifiedMatching MONDO:0000909 Bartter disease type 4B skos:exactMatch UMLS:C4310805 semapv:UnspecifiedMatching MONDO:0000910 retinitis pigmentosa 6 skos:exactMatch DOID:0110413 retinitis pigmentosa 6 semapv:UnspecifiedMatching MONDO:0000910 retinitis pigmentosa 6 skos:exactMatch OMIM:312612 retinitis pigmentosa 6 semapv:UnspecifiedMatching MONDO:0000910 retinitis pigmentosa 6 skos:exactMatch UMLS:C1839368 semapv:UnspecifiedMatching MONDO:0000910 retinitis pigmentosa 6 skos:exactMatch mesh:C564065 semapv:UnspecifiedMatching MONDO:0000911 obsolete dilated cardiomyopathy 1T skos:exactMatch DOID:0110452 dilated cardiomyopathy 1T semapv:UnspecifiedMatching MONDO:0000911 obsolete dilated cardiomyopathy 1T skos:exactMatch OMIM:613740 semapv:UnspecifiedMatching MONDO:0000911 obsolete dilated cardiomyopathy 1T skos:exactMatch UMLS:C3151039 semapv:UnspecifiedMatching MONDO:0000911 obsolete dilated cardiomyopathy 1T skos:exactMatch mesh:C566052 semapv:UnspecifiedMatching MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:exactMatch DOID:0110507 autosomal recessive nonsyndromic deafness 5 semapv:UnspecifiedMatching MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:exactMatch OMIM:600792 deafness, autosomal recessive 5 semapv:UnspecifiedMatching MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:exactMatch UMLS:C1833319 semapv:UnspecifiedMatching MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:exactMatch mesh:C563444 semapv:UnspecifiedMatching MONDO:0000913 hereditary spherocytosis type 2 skos:exactMatch DOID:0110917 hereditary spherocytosis type 2 semapv:UnspecifiedMatching MONDO:0000913 hereditary spherocytosis type 2 skos:exactMatch OMIM:616649 spherocytosis, iia 2 semapv:UnspecifiedMatching MONDO:0000913 hereditary spherocytosis type 2 skos:exactMatch UMLS:C2674219 semapv:UnspecifiedMatching MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:exactMatch DOID:0111035 CADASIL 1 semapv:UnspecifiedMatching MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:exactMatch NCIT:C84606 CADASIL Syndrome semapv:UnspecifiedMatching MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:exactMatch OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 semapv:UnspecifiedMatching MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:exactMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:UnspecifiedMatching MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:exactMatch SCTID:390936003 semapv:UnspecifiedMatching MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:exactMatch UMLS:C4551768 semapv:UnspecifiedMatching MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:exactMatch mesh:D046589 semapv:UnspecifiedMatching MONDO:0000916 intestinal infectious disease skos:exactMatch DOID:100 intestinal infectious disease semapv:UnspecifiedMatching MONDO:0000916 intestinal infectious disease skos:exactMatch ICD10CM:A00-A09 Intestinal infectious diseases (A00-A09) semapv:UnspecifiedMatching MONDO:0000916 intestinal infectious disease skos:exactMatch SCTID:266071000 semapv:UnspecifiedMatching MONDO:0000916 intestinal infectious disease skos:exactMatch UMLS:C0178238 semapv:UnspecifiedMatching MONDO:0000918 endometritis skos:exactMatch DOID:1002 endometritis semapv:UnspecifiedMatching MONDO:0000918 endometritis skos:exactMatch NCIT:C26764 Endometritis semapv:UnspecifiedMatching MONDO:0000918 endometritis skos:exactMatch SCTID:78623009 semapv:UnspecifiedMatching MONDO:0000918 endometritis skos:exactMatch UMLS:C0014179 semapv:UnspecifiedMatching MONDO:0000918 endometritis skos:exactMatch mesh:D004716 semapv:UnspecifiedMatching MONDO:0000919 ampulla of vater cancer skos:exactMatch DOID:10020 ampulla of Vater cancer semapv:UnspecifiedMatching MONDO:0000919 ampulla of vater cancer skos:exactMatch NCIT:C3536 Malignant Ampulla of Vater Neoplasm semapv:UnspecifiedMatching MONDO:0000919 ampulla of vater cancer skos:exactMatch SCTID:363417006 semapv:UnspecifiedMatching MONDO:0000919 ampulla of vater cancer skos:exactMatch UMLS:C0153454 semapv:UnspecifiedMatching MONDO:0000920 duodenum cancer skos:exactMatch DOID:10021 duodenum cancer semapv:UnspecifiedMatching MONDO:0000920 duodenum cancer skos:exactMatch NCIT:C9328 Malignant Duodenal Neoplasm semapv:UnspecifiedMatching MONDO:0000920 duodenum cancer skos:exactMatch SCTID:363403002 semapv:UnspecifiedMatching MONDO:0000920 duodenum cancer skos:exactMatch mesh:D004379 semapv:UnspecifiedMatching MONDO:0000921 ampulla of vater neoplasm skos:exactMatch DOID:10022 ampulla of Vater benign neoplasm semapv:UnspecifiedMatching MONDO:0000921 ampulla of vater neoplasm skos:exactMatch NCIT:C4443 Ampulla of Vater Neoplasm semapv:UnspecifiedMatching MONDO:0000921 ampulla of vater neoplasm skos:exactMatch SCTID:126858004 semapv:UnspecifiedMatching MONDO:0000921 ampulla of vater neoplasm skos:exactMatch UMLS:C0345916 semapv:UnspecifiedMatching MONDO:0000922 pelvic inflammatory disease skos:exactMatch DOID:1003 pelvic inflammatory disease semapv:UnspecifiedMatching MONDO:0000922 pelvic inflammatory disease skos:exactMatch ICD10CM:N70-N77 Inflammatory diseases of female pelvic organs (N70-N77) semapv:UnspecifiedMatching MONDO:0000922 pelvic inflammatory disease skos:exactMatch NCIT:C3889 Pelvic Inflammatory Disease semapv:UnspecifiedMatching MONDO:0000922 pelvic inflammatory disease skos:exactMatch SCTID:198130006 semapv:UnspecifiedMatching MONDO:0000922 pelvic inflammatory disease skos:exactMatch UMLS:C0242172 semapv:UnspecifiedMatching MONDO:0000922 pelvic inflammatory disease skos:exactMatch mesh:D000292 semapv:UnspecifiedMatching MONDO:0000923 interstitial emphysema skos:exactMatch DOID:10030 pulmonary interstitial emphysema semapv:UnspecifiedMatching MONDO:0000923 interstitial emphysema skos:exactMatch ICD10CM:J98.2 Interstitial emphysema semapv:UnspecifiedMatching MONDO:0000923 interstitial emphysema skos:exactMatch NCIT:C34571 Pulmonary Interstitial Emphysema semapv:UnspecifiedMatching MONDO:0000923 interstitial emphysema skos:exactMatch SCTID:77690003 semapv:UnspecifiedMatching MONDO:0000923 interstitial emphysema skos:exactMatch UMLS:C1370824 semapv:UnspecifiedMatching MONDO:0000924 compensatory emphysema skos:exactMatch DOID:10031 compensatory emphysema semapv:UnspecifiedMatching MONDO:0000924 compensatory emphysema skos:exactMatch ICD10CM:J98.3 Compensatory emphysema semapv:UnspecifiedMatching MONDO:0000924 compensatory emphysema skos:exactMatch SCTID:33325001 semapv:UnspecifiedMatching MONDO:0000924 compensatory emphysema skos:exactMatch UMLS:C0155918 semapv:UnspecifiedMatching MONDO:0000925 hyperlucent lung skos:exactMatch DOID:10032 hyperlucent lung semapv:UnspecifiedMatching MONDO:0000925 hyperlucent lung skos:exactMatch UMLS:C0524799 semapv:UnspecifiedMatching MONDO:0000925 hyperlucent lung skos:exactMatch mesh:D019568 semapv:UnspecifiedMatching MONDO:0000926 eye accommodation disease skos:exactMatch DOID:10034 eye accommodation disease semapv:UnspecifiedMatching MONDO:0000926 eye accommodation disease skos:exactMatch SCTID:54552008 semapv:UnspecifiedMatching MONDO:0000926 eye accommodation disease skos:exactMatch UMLS:C0152198 semapv:UnspecifiedMatching MONDO:0000927 asymptomatic neurosyphilis skos:exactMatch DOID:10035 asymptomatic neurosyphilis semapv:UnspecifiedMatching MONDO:0000927 asymptomatic neurosyphilis skos:exactMatch ICD10CM:A52.2 Asymptomatic neurosyphilis semapv:UnspecifiedMatching MONDO:0000927 asymptomatic neurosyphilis skos:exactMatch SCTID:37754005 semapv:UnspecifiedMatching MONDO:0000927 asymptomatic neurosyphilis skos:exactMatch UMLS:C0153167 semapv:UnspecifiedMatching MONDO:0000928 eyelid melanoma skos:exactMatch DOID:10040 malignant eyelid melanoma semapv:UnspecifiedMatching MONDO:0000928 eyelid melanoma skos:exactMatch NCIT:C4358 Eyelid Melanoma semapv:UnspecifiedMatching MONDO:0000928 eyelid melanoma skos:exactMatch SCTID:231834005 semapv:UnspecifiedMatching MONDO:0000928 eyelid melanoma skos:exactMatch UMLS:C0339116 semapv:UnspecifiedMatching MONDO:0000929 balloon cell malignant melanoma skos:exactMatch DOID:10044 balloon cell malignant melanoma semapv:UnspecifiedMatching MONDO:0000929 balloon cell malignant melanoma skos:exactMatch NCIT:C4227 Balloon Cell Melanoma semapv:UnspecifiedMatching MONDO:0000929 balloon cell malignant melanoma skos:exactMatch SCTID:403922007 semapv:UnspecifiedMatching MONDO:0000929 balloon cell malignant melanoma skos:exactMatch UMLS:C0334426 semapv:UnspecifiedMatching MONDO:0000930 nodular malignant melanoma skos:exactMatch DOID:10047 nodular malignant melanoma semapv:UnspecifiedMatching MONDO:0000930 nodular malignant melanoma skos:exactMatch NCIT:C4225 Cutaneous Nodular Melanoma semapv:UnspecifiedMatching MONDO:0000930 nodular malignant melanoma skos:exactMatch SCTID:254731001 semapv:UnspecifiedMatching MONDO:0000930 nodular malignant melanoma skos:exactMatch UMLS:C0334424 semapv:UnspecifiedMatching MONDO:0000931 endometrial disorder skos:exactMatch DOID:1005 endometrial disease semapv:UnspecifiedMatching MONDO:0000931 endometrial disorder skos:exactMatch NCIT:C3504 Endometrial Disorder semapv:UnspecifiedMatching MONDO:0000931 endometrial disorder skos:exactMatch SCTID:418632009 semapv:UnspecifiedMatching MONDO:0000933 subglottis neoplasm skos:exactMatch DOID:10069 subglottis benign neoplasm semapv:UnspecifiedMatching MONDO:0000933 subglottis neoplasm skos:exactMatch NCIT:C4426 Subglottis Neoplasm semapv:UnspecifiedMatching MONDO:0000933 subglottis neoplasm skos:exactMatch SCTID:126696001 semapv:UnspecifiedMatching MONDO:0000933 subglottis neoplasm skos:exactMatch UMLS:C0345746 semapv:UnspecifiedMatching MONDO:0000934 laryngeal leiomyoma skos:exactMatch DOID:10070 larynx leiomyoma semapv:UnspecifiedMatching MONDO:0000934 laryngeal leiomyoma skos:exactMatch NCIT:C6027 Laryngeal Leiomyoma semapv:UnspecifiedMatching MONDO:0000934 laryngeal leiomyoma skos:exactMatch UMLS:C1334370 semapv:UnspecifiedMatching MONDO:0000935 larynx squamous papilloma skos:exactMatch DOID:10071 larynx squamous papilloma semapv:UnspecifiedMatching MONDO:0000935 larynx squamous papilloma skos:exactMatch NCIT:C7742 Laryngeal Squamous Papilloma semapv:UnspecifiedMatching MONDO:0000935 larynx squamous papilloma skos:exactMatch UMLS:C0240164 semapv:UnspecifiedMatching MONDO:0000936 syphilitic meningitis skos:exactMatch DOID:10073 syphilitic meningitis semapv:UnspecifiedMatching MONDO:0000936 syphilitic meningitis skos:exactMatch SCTID:301086002 semapv:UnspecifiedMatching MONDO:0000936 syphilitic meningitis skos:exactMatch UMLS:C0153166 semapv:UnspecifiedMatching MONDO:0000936 syphilitic meningitis skos:exactMatch mesh:C536775 semapv:UnspecifiedMatching MONDO:0000937 syphilitic encephalitis skos:exactMatch DOID:10081 syphilitic encephalitis semapv:UnspecifiedMatching MONDO:0000937 syphilitic encephalitis skos:exactMatch SCTID:26135000 semapv:UnspecifiedMatching MONDO:0000937 syphilitic encephalitis skos:exactMatch UMLS:C0153168 semapv:UnspecifiedMatching MONDO:0000938 gastric leiomyoma skos:exactMatch DOID:10087 gastric leiomyoma semapv:UnspecifiedMatching MONDO:0000938 gastric leiomyoma skos:exactMatch NCIT:C3876 Gastric Leiomyoma semapv:UnspecifiedMatching MONDO:0000938 gastric leiomyoma skos:exactMatch SCTID:276812001 semapv:UnspecifiedMatching MONDO:0000938 gastric leiomyoma skos:exactMatch UMLS:C0238440 semapv:UnspecifiedMatching MONDO:0000939 intracranial abscess skos:exactMatch DOID:10095 intracranial abscess semapv:UnspecifiedMatching MONDO:0000939 intracranial abscess skos:exactMatch NCIT:C34734 Intracranial Abscess semapv:UnspecifiedMatching MONDO:0000939 intracranial abscess skos:exactMatch SCTID:27614006 semapv:UnspecifiedMatching MONDO:0000939 intracranial abscess skos:exactMatch UMLS:C0021874 semapv:UnspecifiedMatching MONDO:0000940 trypanosomiasis skos:exactMatch DOID:10113 trypanosomiasis semapv:UnspecifiedMatching MONDO:0000940 trypanosomiasis skos:exactMatch ICD10CM:B56 African trypanosomiasis semapv:UnspecifiedMatching MONDO:0000940 trypanosomiasis skos:exactMatch SCTID:78940002 semapv:UnspecifiedMatching MONDO:0000940 trypanosomiasis skos:exactMatch UMLS:C0041227 semapv:UnspecifiedMatching MONDO:0000940 trypanosomiasis skos:exactMatch mesh:D014352 semapv:UnspecifiedMatching MONDO:0000941 eyelid degenerative disorder skos:exactMatch SCTID:1112003 semapv:UnspecifiedMatching MONDO:0000941 eyelid degenerative disorder skos:exactMatch UMLS:C0155209 semapv:UnspecifiedMatching MONDO:0000942 corneal disorder skos:exactMatch DOID:10124 corneal disease semapv:UnspecifiedMatching MONDO:0000942 corneal disorder skos:exactMatch NCIT:C26731 Corneal Disorder semapv:UnspecifiedMatching MONDO:0000942 corneal disorder skos:exactMatch SCTID:15250008 semapv:UnspecifiedMatching MONDO:0000942 corneal disorder skos:exactMatch UMLS:C0010034 semapv:UnspecifiedMatching MONDO:0000942 corneal disorder skos:exactMatch mesh:D003316 semapv:UnspecifiedMatching MONDO:0000943 acute hydrops keratoconus skos:exactMatch DOID:10125 acute hydrops keratoconus semapv:UnspecifiedMatching MONDO:0000943 acute hydrops keratoconus skos:exactMatch SCTID:111523009 semapv:UnspecifiedMatching MONDO:0000943 acute hydrops keratoconus skos:exactMatch UMLS:C0339286 semapv:UnspecifiedMatching MONDO:0000944 cerebral artery occlusion skos:exactMatch DOID:10127 cerebral artery occlusion semapv:UnspecifiedMatching MONDO:0000944 cerebral artery occlusion skos:exactMatch SCTID:20059004 semapv:UnspecifiedMatching MONDO:0000945 venous insufficiency skos:exactMatch DOID:10128 venous insufficiency semapv:UnspecifiedMatching MONDO:0000945 venous insufficiency skos:exactMatch SCTID:20696009 semapv:UnspecifiedMatching MONDO:0000945 venous insufficiency skos:exactMatch UMLS:C0042485 semapv:UnspecifiedMatching MONDO:0000945 venous insufficiency skos:exactMatch mesh:D014689 semapv:UnspecifiedMatching MONDO:0000946 psychologic vaginismus skos:exactMatch DOID:10131 psychologic vaginismus semapv:UnspecifiedMatching MONDO:0000946 psychologic vaginismus skos:exactMatch SCTID:71787009 semapv:UnspecifiedMatching MONDO:0000947 psychosexual disorder skos:exactMatch DOID:10132 psychosexual disorder semapv:UnspecifiedMatching MONDO:0000947 psychosexual disorder skos:exactMatch SCTID:56627002 semapv:UnspecifiedMatching MONDO:0000948 xerophthalmia skos:exactMatch DOID:10138 xerophthalmia semapv:UnspecifiedMatching MONDO:0000948 xerophthalmia skos:exactMatch NCIT:C34503 Xerophthalmia semapv:UnspecifiedMatching MONDO:0000948 xerophthalmia skos:exactMatch SCTID:363677007 semapv:UnspecifiedMatching MONDO:0000948 xerophthalmia skos:exactMatch UMLS:C0022575 semapv:UnspecifiedMatching MONDO:0000948 xerophthalmia skos:exactMatch mesh:D014985 semapv:UnspecifiedMatching MONDO:0000949 conjunctival degeneration skos:exactMatch DOID:10139 conjunctival degeneration semapv:UnspecifiedMatching MONDO:0000949 conjunctival degeneration skos:exactMatch SCTID:40787005 semapv:UnspecifiedMatching MONDO:0000949 conjunctival degeneration skos:exactMatch UMLS:C0155160 semapv:UnspecifiedMatching MONDO:0000950 asthenopia skos:exactMatch UMLS:C0004095 semapv:UnspecifiedMatching MONDO:0000950 asthenopia skos:exactMatch mesh:D001248 semapv:UnspecifiedMatching MONDO:0000951 thymus lymphoma skos:exactMatch DOID:10146 thymus lymphoma semapv:UnspecifiedMatching MONDO:0000951 thymus lymphoma skos:exactMatch NCIT:C6451 Thymic Lymphoma semapv:UnspecifiedMatching MONDO:0000951 thymus lymphoma skos:exactMatch UMLS:C1336745 semapv:UnspecifiedMatching MONDO:0000952 cancer of long bone of lower limb skos:exactMatch DOID:10149 long bones of lower limb cancer semapv:UnspecifiedMatching MONDO:0000952 cancer of long bone of lower limb skos:exactMatch ICD10CM:C40.2 Malignant neoplasm of long bones of lower limb semapv:UnspecifiedMatching MONDO:0000952 cancer of long bone of lower limb skos:exactMatch SCTID:449627008 semapv:UnspecifiedMatching MONDO:0000952 cancer of long bone of lower limb skos:exactMatch UMLS:C3265932 semapv:UnspecifiedMatching MONDO:0000953 cancer of short bone of lower limb skos:exactMatch DOID:10151 malignant neoplasm of short bones of lower limb semapv:UnspecifiedMatching MONDO:0000953 cancer of short bone of lower limb skos:exactMatch ICD10CM:C40.3 Malignant neoplasm of short bones of lower limb semapv:UnspecifiedMatching MONDO:0000953 cancer of short bone of lower limb skos:exactMatch SCTID:712525007 semapv:UnspecifiedMatching MONDO:0000953 cancer of short bone of lower limb skos:exactMatch UMLS:C0153518 semapv:UnspecifiedMatching MONDO:0000954 Meckel diverticulum cancer skos:exactMatch DOID:10152 Meckel's diverticulum cancer semapv:UnspecifiedMatching MONDO:0000954 Meckel diverticulum cancer skos:exactMatch SCTID:187752007 semapv:UnspecifiedMatching MONDO:0000954 Meckel diverticulum cancer skos:exactMatch UMLS:C0153429 semapv:UnspecifiedMatching MONDO:0000955 ileum cancer skos:exactMatch DOID:10153 ileum cancer semapv:UnspecifiedMatching MONDO:0000956 small intestine cancer skos:exactMatch DOID:10154 small intestine cancer semapv:UnspecifiedMatching MONDO:0000956 small intestine cancer skos:exactMatch NCIT:C7523 Malignant Small Intestinal Neoplasm semapv:UnspecifiedMatching MONDO:0000956 small intestine cancer skos:exactMatch UMLS:C0153425 semapv:UnspecifiedMatching MONDO:0000957 lacrimal passage granuloma skos:exactMatch DOID:10174 lacrimal passage granuloma semapv:UnspecifiedMatching MONDO:0000957 lacrimal passage granuloma skos:exactMatch SCTID:417563003 semapv:UnspecifiedMatching MONDO:0000957 lacrimal passage granuloma skos:exactMatch UMLS:C0155253 semapv:UnspecifiedMatching MONDO:0000958 neuroretinitis skos:exactMatch DOID:10176 neuroretinitis semapv:UnspecifiedMatching MONDO:0000958 neuroretinitis skos:exactMatch UMLS:C0154874 semapv:UnspecifiedMatching MONDO:0000959 malignant hypertensive renal disease skos:exactMatch DOID:10177 malignant hypertensive renal disease semapv:UnspecifiedMatching MONDO:0000959 malignant hypertensive renal disease skos:exactMatch SCTID:65443008 semapv:UnspecifiedMatching MONDO:0000959 malignant hypertensive renal disease skos:exactMatch UMLS:C0155593 semapv:UnspecifiedMatching MONDO:0000960 diabetic peripheral angiopathy skos:exactMatch DOID:11713 diabetic angiopathy semapv:UnspecifiedMatching MONDO:0000960 diabetic peripheral angiopathy skos:exactMatch NCIT:C35610 Diabetic Vascular Disorder semapv:UnspecifiedMatching MONDO:0000960 diabetic peripheral angiopathy skos:exactMatch SCTID:127014009 semapv:UnspecifiedMatching MONDO:0000960 diabetic peripheral angiopathy skos:exactMatch UMLS:C0011871 semapv:UnspecifiedMatching MONDO:0000960 diabetic peripheral angiopathy skos:exactMatch UMLS:C0011875 semapv:UnspecifiedMatching MONDO:0000960 diabetic peripheral angiopathy skos:exactMatch mesh:D003925 semapv:UnspecifiedMatching MONDO:0000961 endobronchial lipoma skos:exactMatch DOID:10183 endobronchial lipoma semapv:UnspecifiedMatching MONDO:0000961 endobronchial lipoma skos:exactMatch NCIT:C5063 Endobronchial Lipoma semapv:UnspecifiedMatching MONDO:0000961 endobronchial lipoma skos:exactMatch UMLS:C0852937 semapv:UnspecifiedMatching MONDO:0000962 spindle cell lipoma skos:exactMatch DOID:10184 spindle cell lipoma semapv:UnspecifiedMatching MONDO:0000962 spindle cell lipoma skos:exactMatch NCIT:C4254 Spindle Cell Lipoma semapv:UnspecifiedMatching MONDO:0000962 spindle cell lipoma skos:exactMatch SCTID:404058008 semapv:UnspecifiedMatching MONDO:0000962 spindle cell lipoma skos:exactMatch UMLS:C0334474 semapv:UnspecifiedMatching MONDO:0000963 esophageal lipoma skos:exactMatch DOID:10187 esophageal lipoma semapv:UnspecifiedMatching MONDO:0000963 esophageal lipoma skos:exactMatch NCIT:C5701 Esophageal Lipoma semapv:UnspecifiedMatching MONDO:0000963 esophageal lipoma skos:exactMatch UMLS:C1333455 semapv:UnspecifiedMatching MONDO:0000964 skin lipoma skos:exactMatch DOID:10188 skin lipoma semapv:UnspecifiedMatching MONDO:0000964 skin lipoma skos:exactMatch NCIT:C4616 Skin Lipoma semapv:UnspecifiedMatching MONDO:0000964 skin lipoma skos:exactMatch SCTID:255187008 semapv:UnspecifiedMatching MONDO:0000965 liver lipoma skos:exactMatch DOID:10190 liver lipoma semapv:UnspecifiedMatching MONDO:0000965 liver lipoma skos:exactMatch NCIT:C5750 Liver Lipoma semapv:UnspecifiedMatching MONDO:0000965 liver lipoma skos:exactMatch UMLS:C1333970 semapv:UnspecifiedMatching MONDO:0000966 pleomorphic lipoma skos:exactMatch DOID:10192 pleomorphic lipoma semapv:UnspecifiedMatching MONDO:0000966 pleomorphic lipoma skos:exactMatch NCIT:C3703 Pleomorphic Lipoma semapv:UnspecifiedMatching MONDO:0000966 pleomorphic lipoma skos:exactMatch SCTID:404059000 semapv:UnspecifiedMatching MONDO:0000966 pleomorphic lipoma skos:exactMatch UMLS:C0205823 semapv:UnspecifiedMatching MONDO:0000967 conventional lipoma skos:exactMatch DOID:10193 conventional lipoma semapv:UnspecifiedMatching MONDO:0000967 conventional lipoma skos:exactMatch NCIT:C27530 Conventional Lipoma semapv:UnspecifiedMatching MONDO:0000967 conventional lipoma skos:exactMatch UMLS:C1333059 semapv:UnspecifiedMatching MONDO:0000968 kidney lipoma skos:exactMatch DOID:10194 kidney lipoma semapv:UnspecifiedMatching MONDO:0000968 kidney lipoma skos:exactMatch NCIT:C5101 Kidney Lipoma semapv:UnspecifiedMatching MONDO:0000968 kidney lipoma skos:exactMatch UMLS:C1335744 semapv:UnspecifiedMatching MONDO:0000969 pleural lipoma skos:exactMatch DOID:10195 pleural lipoma semapv:UnspecifiedMatching MONDO:0000969 pleural lipoma skos:exactMatch NCIT:C6644 Pleural Lipoma semapv:UnspecifiedMatching MONDO:0000969 pleural lipoma skos:exactMatch SCTID:2460001000004103 semapv:UnspecifiedMatching MONDO:0000969 pleural lipoma skos:exactMatch UMLS:C1335434 semapv:UnspecifiedMatching MONDO:0000970 breast lipoma skos:exactMatch DOID:10199 breast lipoma semapv:UnspecifiedMatching MONDO:0000970 breast lipoma skos:exactMatch NCIT:C4647 Breast Lipoma semapv:UnspecifiedMatching MONDO:0000970 breast lipoma skos:exactMatch SCTID:276891009 semapv:UnspecifiedMatching MONDO:0000970 breast lipoma skos:exactMatch UMLS:C0349565 semapv:UnspecifiedMatching MONDO:0000971 chest wall lipoma skos:exactMatch DOID:10200 chest wall lipoma semapv:UnspecifiedMatching MONDO:0000971 chest wall lipoma skos:exactMatch NCIT:C6719 Chest Wall Lipoma semapv:UnspecifiedMatching MONDO:0000971 chest wall lipoma skos:exactMatch SCTID:448270009 semapv:UnspecifiedMatching MONDO:0000971 chest wall lipoma skos:exactMatch UMLS:C1332932 semapv:UnspecifiedMatching MONDO:0000972 gallbladder lipoma skos:exactMatch DOID:10201 gallbladder lipoma semapv:UnspecifiedMatching MONDO:0000972 gallbladder lipoma skos:exactMatch NCIT:C5835 Gallbladder Lipoma semapv:UnspecifiedMatching MONDO:0000972 gallbladder lipoma skos:exactMatch UMLS:C1333747 semapv:UnspecifiedMatching MONDO:0000973 external ear lipoma skos:exactMatch DOID:10203 external ear lipoma semapv:UnspecifiedMatching MONDO:0000973 external ear lipoma skos:exactMatch NCIT:C4618 External Ear Lipoma semapv:UnspecifiedMatching MONDO:0000973 external ear lipoma skos:exactMatch SCTID:188988008 semapv:UnspecifiedMatching MONDO:0000973 external ear lipoma skos:exactMatch UMLS:C0347423 semapv:UnspecifiedMatching MONDO:0000974 axillary lipoma skos:exactMatch DOID:10205 axillary lipoma semapv:UnspecifiedMatching MONDO:0000974 axillary lipoma skos:exactMatch NCIT:C35419 Axillary Lipoma semapv:UnspecifiedMatching MONDO:0000974 axillary lipoma skos:exactMatch SCTID:188993006 semapv:UnspecifiedMatching MONDO:0000974 axillary lipoma skos:exactMatch UMLS:C0347429 semapv:UnspecifiedMatching MONDO:0000975 lipoma of spermatic cord skos:exactMatch DOID:10206 lipoma of spermatic cord semapv:UnspecifiedMatching MONDO:0000975 lipoma of spermatic cord skos:exactMatch NCIT:C3606 Spermatic Cord Lipoma semapv:UnspecifiedMatching MONDO:0000975 lipoma of spermatic cord skos:exactMatch SCTID:93162007 semapv:UnspecifiedMatching MONDO:0000975 lipoma of spermatic cord skos:exactMatch UMLS:C0153972 semapv:UnspecifiedMatching MONDO:0000976 paratesticular lipoma skos:exactMatch DOID:10207 paratesticular lipoma semapv:UnspecifiedMatching MONDO:0000976 paratesticular lipoma skos:exactMatch NCIT:C6384 Paratesticular Lipoma semapv:UnspecifiedMatching MONDO:0000976 paratesticular lipoma skos:exactMatch UMLS:C1335348 semapv:UnspecifiedMatching MONDO:0000977 chondroid lipoma skos:exactMatch DOID:10208 chondroid lipoma semapv:UnspecifiedMatching MONDO:0000977 chondroid lipoma skos:exactMatch NCIT:C6503 Chondroid Lipoma semapv:UnspecifiedMatching MONDO:0000977 chondroid lipoma skos:exactMatch SCTID:404065000 semapv:UnspecifiedMatching MONDO:0000977 chondroid lipoma skos:exactMatch UMLS:C1266131 semapv:UnspecifiedMatching MONDO:0000978 extrahepatic bile duct lipoma skos:exactMatch DOID:10209 extrahepatic bile duct lipoma semapv:UnspecifiedMatching MONDO:0000978 extrahepatic bile duct lipoma skos:exactMatch NCIT:C5854 Extrahepatic Bile Duct Lipoma semapv:UnspecifiedMatching MONDO:0000978 extrahepatic bile duct lipoma skos:exactMatch UMLS:C1333509 semapv:UnspecifiedMatching MONDO:0000979 pinta disease skos:exactMatch DOID:1022 pinta disease semapv:UnspecifiedMatching MONDO:0000979 pinta disease skos:exactMatch NCIT:C85011 Pinta semapv:UnspecifiedMatching MONDO:0000979 pinta disease skos:exactMatch SCTID:22064009 semapv:UnspecifiedMatching MONDO:0000979 pinta disease skos:exactMatch UMLS:C0031946 semapv:UnspecifiedMatching MONDO:0000979 pinta disease skos:exactMatch mesh:D010874 semapv:UnspecifiedMatching MONDO:0000980 aortic atherosclerosis skos:exactMatch DOID:10230 aortic atherosclerosis semapv:UnspecifiedMatching MONDO:0000980 aortic atherosclerosis skos:exactMatch SCTID:81817003 semapv:UnspecifiedMatching MONDO:0000980 aortic atherosclerosis skos:exactMatch UMLS:C0155733 semapv:UnspecifiedMatching MONDO:0000981 Histoplasma pericarditis skos:exactMatch DOID:10234 histoplasmosis pericarditis semapv:UnspecifiedMatching MONDO:0000981 Histoplasma pericarditis skos:exactMatch SCTID:187059008 semapv:UnspecifiedMatching MONDO:0000981 Histoplasma pericarditis skos:exactMatch UMLS:C0153279 semapv:UnspecifiedMatching MONDO:0000983 exhibitionism skos:exactMatch DOID:10236 exhibitionism semapv:UnspecifiedMatching MONDO:0000983 exhibitionism skos:exactMatch ICD10CM:F65.2 Exhibitionism semapv:UnspecifiedMatching MONDO:0000983 exhibitionism skos:exactMatch NCIT:C94352 Exhibitionism semapv:UnspecifiedMatching MONDO:0000983 exhibitionism skos:exactMatch SCTID:58349009 semapv:UnspecifiedMatching MONDO:0000983 exhibitionism skos:exactMatch mesh:D005084 semapv:UnspecifiedMatching MONDO:0000984 thalassemia skos:exactMatch DOID:10241 thalassemia semapv:UnspecifiedMatching MONDO:0000984 thalassemia skos:exactMatch ICD10CM:D56 Thalassemia semapv:UnspecifiedMatching MONDO:0000984 thalassemia skos:exactMatch NCIT:C35069 Thalassemia semapv:UnspecifiedMatching MONDO:0000984 thalassemia skos:exactMatch SCTID:40108008 semapv:UnspecifiedMatching MONDO:0000984 thalassemia skos:exactMatch UMLS:C0039730 semapv:UnspecifiedMatching MONDO:0000984 thalassemia skos:exactMatch mesh:D013789 semapv:UnspecifiedMatching MONDO:0000986 pleurisy skos:exactMatch DOID:10247 pleurisy semapv:UnspecifiedMatching MONDO:0000986 pleurisy skos:exactMatch ICD10CM:R09.1 Pleurisy semapv:UnspecifiedMatching MONDO:0000986 pleurisy skos:exactMatch NCIT:C26860 Pleuritis semapv:UnspecifiedMatching MONDO:0000986 pleurisy skos:exactMatch SCTID:196075003 semapv:UnspecifiedMatching MONDO:0000986 pleurisy skos:exactMatch UMLS:C0032231 semapv:UnspecifiedMatching MONDO:0000986 pleurisy skos:exactMatch mesh:D010998 semapv:UnspecifiedMatching MONDO:0000987 cholesterolosis of gallbladder skos:exactMatch DOID:10254 strawberry gallbladder semapv:UnspecifiedMatching MONDO:0000987 cholesterolosis of gallbladder skos:exactMatch ICD10CM:K82.4 Cholesterolosis of gallbladder semapv:UnspecifiedMatching MONDO:0000987 cholesterolosis of gallbladder skos:exactMatch SCTID:61565001 semapv:UnspecifiedMatching MONDO:0000987 cholesterolosis of gallbladder skos:exactMatch UMLS:C0152456 semapv:UnspecifiedMatching MONDO:0000988 discharging ear skos:exactMatch DOID:10261 otorrhea semapv:UnspecifiedMatching MONDO:0000989 mumps infectious disease skos:exactMatch DOID:10264 mumps semapv:UnspecifiedMatching MONDO:0000989 mumps infectious disease skos:exactMatch ICD10CM:B26 Mumps semapv:UnspecifiedMatching MONDO:0000989 mumps infectious disease skos:exactMatch NCIT:C29888 Mumps semapv:UnspecifiedMatching MONDO:0000989 mumps infectious disease skos:exactMatch SCTID:36989005 semapv:UnspecifiedMatching MONDO:0000989 mumps infectious disease skos:exactMatch UMLS:C0026780 semapv:UnspecifiedMatching MONDO:0000989 mumps infectious disease skos:exactMatch mesh:D009107 semapv:UnspecifiedMatching MONDO:0000989 mumps infectious disease skos:exactMatch mesh:D019351 semapv:UnspecifiedMatching MONDO:0000990 acute subendocardial myocardial infarction skos:exactMatch DOID:10266 subendocardial infarction acute myocardial infarction semapv:UnspecifiedMatching MONDO:0000990 acute subendocardial myocardial infarction skos:exactMatch SCTID:70422006 semapv:UnspecifiedMatching MONDO:0000990 acute subendocardial myocardial infarction skos:exactMatch UMLS:C0264710 semapv:UnspecifiedMatching MONDO:0000991 obsolete left bundle branch block skos:exactMatch DOID:10272 left bundle branch hemiblock semapv:UnspecifiedMatching MONDO:0000991 obsolete left bundle branch block skos:exactMatch SCTID:4973001 semapv:UnspecifiedMatching MONDO:0000991 obsolete left bundle branch block skos:exactMatch SCTID:63467002 semapv:UnspecifiedMatching MONDO:0000991 obsolete left bundle branch block skos:exactMatch UMLS:C0155702 semapv:UnspecifiedMatching MONDO:0000992 heart conduction disease skos:exactMatch DOID:10273 heart conduction disease semapv:UnspecifiedMatching MONDO:0000992 heart conduction disease skos:exactMatch SCTID:44808001 semapv:UnspecifiedMatching MONDO:0000993 prostate squamous cell carcinoma skos:exactMatch DOID:10287 prostate squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0000993 prostate squamous cell carcinoma skos:exactMatch NCIT:C5536 Prostate Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0000993 prostate squamous cell carcinoma skos:exactMatch SCTID:399590005 semapv:UnspecifiedMatching MONDO:0000993 prostate squamous cell carcinoma skos:exactMatch UMLS:C1302530 semapv:UnspecifiedMatching MONDO:0000994 malignant prostate phyllodes tumor skos:exactMatch DOID:10289 prostate malignant phyllodes tumor semapv:UnspecifiedMatching MONDO:0000994 malignant prostate phyllodes tumor skos:exactMatch NCIT:C5531 Malignant Prostate Phyllodes Tumor semapv:UnspecifiedMatching MONDO:0000994 malignant prostate phyllodes tumor skos:exactMatch UMLS:C1334615 semapv:UnspecifiedMatching MONDO:0000995 familial periodic paralysis skos:exactMatch DOID:1029 familial periodic paralysis semapv:UnspecifiedMatching MONDO:0000995 familial periodic paralysis skos:exactMatch NCIT:C84709 Familial Periodic Paralysis semapv:UnspecifiedMatching MONDO:0000995 familial periodic paralysis skos:exactMatch Orphanet:371433 Genetic periodic paralysis semapv:UnspecifiedMatching MONDO:0000995 familial periodic paralysis skos:exactMatch SCTID:267607008 semapv:UnspecifiedMatching MONDO:0000995 familial periodic paralysis skos:exactMatch mesh:D010245 semapv:UnspecifiedMatching MONDO:0000996 prostate lymphoma skos:exactMatch DOID:10290 prostate lymphoma semapv:UnspecifiedMatching MONDO:0000996 prostate lymphoma skos:exactMatch NCIT:C5533 Prostate Lymphoma semapv:UnspecifiedMatching MONDO:0000996 prostate lymphoma skos:exactMatch UMLS:C1335512 semapv:UnspecifiedMatching MONDO:0000997 monocular esotropia skos:exactMatch DOID:10293 monocular esotropia semapv:UnspecifiedMatching MONDO:0000997 monocular esotropia skos:exactMatch SCTID:5455000 semapv:UnspecifiedMatching MONDO:0000997 monocular esotropia skos:exactMatch UMLS:C0152204 semapv:UnspecifiedMatching MONDO:0001000 mixed mineral dust pneumoconiosis skos:exactMatch DOID:10319 mixed mineral dust pneumoconiosis semapv:UnspecifiedMatching MONDO:0001000 mixed mineral dust pneumoconiosis skos:exactMatch NCIT:C27559 Mixed Mineral Dust Pneumoconiosis semapv:UnspecifiedMatching MONDO:0001000 mixed mineral dust pneumoconiosis skos:exactMatch SCTID:233759002 semapv:UnspecifiedMatching MONDO:0001000 mixed mineral dust pneumoconiosis skos:exactMatch UMLS:C0340184 semapv:UnspecifiedMatching MONDO:0001001 baritosis skos:exactMatch DOID:10321 baritosis semapv:UnspecifiedMatching MONDO:0001001 baritosis skos:exactMatch NCIT:C34410 Baritosis semapv:UnspecifiedMatching MONDO:0001001 baritosis skos:exactMatch SCTID:50076003 semapv:UnspecifiedMatching MONDO:0001001 baritosis skos:exactMatch UMLS:C0340177 semapv:UnspecifiedMatching MONDO:0001001 baritosis skos:exactMatch mesh:C537080 semapv:UnspecifiedMatching MONDO:0001003 pneumoconiosis due to talc skos:exactMatch DOID:10329 pulmonary talcosis semapv:UnspecifiedMatching MONDO:0001003 pneumoconiosis due to talc skos:exactMatch NCIT:C27026 Talc Pneumoconiosis semapv:UnspecifiedMatching MONDO:0001003 pneumoconiosis due to talc skos:exactMatch SCTID:73144008 semapv:UnspecifiedMatching MONDO:0001003 pneumoconiosis due to talc skos:exactMatch UMLS:C0238377 semapv:UnspecifiedMatching MONDO:0001004 slate pneumoconiosis skos:exactMatch DOID:10330 slate pneumoconiosis semapv:UnspecifiedMatching MONDO:0001004 slate pneumoconiosis skos:exactMatch NCIT:C35397 Slate Pneumoconiosis semapv:UnspecifiedMatching MONDO:0001004 slate pneumoconiosis skos:exactMatch SCTID:1259003 semapv:UnspecifiedMatching MONDO:0001004 slate pneumoconiosis skos:exactMatch UMLS:C0340186 semapv:UnspecifiedMatching MONDO:0001005 kaolin pneumoconiosis skos:exactMatch DOID:10331 kaolin pneumoconiosis semapv:UnspecifiedMatching MONDO:0001005 kaolin pneumoconiosis skos:exactMatch NCIT:C35315 Kaolin Pneumoconiosis semapv:UnspecifiedMatching MONDO:0001005 kaolin pneumoconiosis skos:exactMatch SCTID:36696005 semapv:UnspecifiedMatching MONDO:0001005 kaolin pneumoconiosis skos:exactMatch UMLS:C0264435 semapv:UnspecifiedMatching MONDO:0001006 glaucomatous atrophy of optic disk skos:exactMatch DOID:10337 glaucomatous atrophy of optic disc semapv:UnspecifiedMatching MONDO:0001006 glaucomatous atrophy of optic disk skos:exactMatch SCTID:1207009 semapv:UnspecifiedMatching MONDO:0001006 glaucomatous atrophy of optic disk skos:exactMatch UMLS:C0271342 semapv:UnspecifiedMatching MONDO:0001007 chronic meningitis skos:exactMatch DOID:10341 chronic meningitis semapv:UnspecifiedMatching MONDO:0001007 chronic meningitis skos:exactMatch ICD10CM:G03.1 Chronic meningitis semapv:UnspecifiedMatching MONDO:0001007 chronic meningitis skos:exactMatch SCTID:21664006 semapv:UnspecifiedMatching MONDO:0001007 chronic meningitis skos:exactMatch UMLS:C0154653 semapv:UnspecifiedMatching MONDO:0001008 blepharophimosis skos:exactMatch DOID:10348 blepharophimosis semapv:UnspecifiedMatching MONDO:0001008 blepharophimosis skos:exactMatch mesh:D016569 semapv:UnspecifiedMatching MONDO:0001009 solitary cyst of breast skos:exactMatch DOID:10349 solitary cyst of breast semapv:UnspecifiedMatching MONDO:0001009 solitary cyst of breast skos:exactMatch ICD10CM:N60.0 Solitary cyst of breast semapv:UnspecifiedMatching MONDO:0001009 solitary cyst of breast skos:exactMatch SCTID:266578003 semapv:UnspecifiedMatching MONDO:0001011 breast cyst skos:exactMatch DOID:10350 breast cyst semapv:UnspecifiedMatching MONDO:0001011 breast cyst skos:exactMatch SCTID:399294002 semapv:UnspecifiedMatching MONDO:0001011 breast cyst skos:exactMatch mesh:D047688 semapv:UnspecifiedMatching MONDO:0001012 obsolete breast fibroadenosis skos:exactMatch DOID:10352 breast fibroadenosis semapv:UnspecifiedMatching MONDO:0001012 obsolete breast fibroadenosis skos:exactMatch ICD10CM:N60.2 Fibroadenosis of breast semapv:UnspecifiedMatching MONDO:0001012 obsolete breast fibroadenosis skos:exactMatch SCTID:23260002 semapv:UnspecifiedMatching MONDO:0001012 obsolete breast fibroadenosis skos:exactMatch UMLS:C1305875 semapv:UnspecifiedMatching MONDO:0001014 chronic leukemia skos:exactMatch DOID:1036 chronic leukemia semapv:UnspecifiedMatching MONDO:0001014 chronic leukemia skos:exactMatch NCIT:C3483 Chronic Leukemia semapv:UnspecifiedMatching MONDO:0001014 chronic leukemia skos:exactMatch SCTID:92812005 semapv:UnspecifiedMatching MONDO:0001014 chronic leukemia skos:exactMatch UMLS:C1279296 semapv:UnspecifiedMatching MONDO:0001015 eosinophilic meningitis skos:exactMatch DOID:10361 eosinophilic meningitis semapv:UnspecifiedMatching MONDO:0001015 eosinophilic meningitis skos:exactMatch NCIT:C128374 Eosinophilic Meningitis semapv:UnspecifiedMatching MONDO:0001015 eosinophilic meningitis skos:exactMatch SCTID:25671008 semapv:UnspecifiedMatching MONDO:0001015 eosinophilic meningitis skos:exactMatch UMLS:C0154652 semapv:UnspecifiedMatching MONDO:0001016 epididymis cancer skos:exactMatch DOID:10366 epididymis cancer semapv:UnspecifiedMatching MONDO:0001016 epididymis cancer skos:exactMatch NCIT:C3558 Malignant Epididymal Neoplasm semapv:UnspecifiedMatching MONDO:0001016 epididymis cancer skos:exactMatch SCTID:363452003 semapv:UnspecifiedMatching MONDO:0001016 epididymis cancer skos:exactMatch UMLS:C0153602 semapv:UnspecifiedMatching MONDO:0001017 epididymal adenocarcinoma skos:exactMatch DOID:10368 epididymis adenocarcinoma semapv:UnspecifiedMatching MONDO:0001017 epididymal adenocarcinoma skos:exactMatch NCIT:C39957 Epididymal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0001017 epididymal adenocarcinoma skos:exactMatch UMLS:C1510784 semapv:UnspecifiedMatching MONDO:0001019 suppression amblyopia skos:exactMatch DOID:10375 strabismic amblyopia semapv:UnspecifiedMatching MONDO:0001019 suppression amblyopia skos:exactMatch SCTID:35600002 semapv:UnspecifiedMatching MONDO:0001019 suppression amblyopia skos:exactMatch UMLS:C0750903 semapv:UnspecifiedMatching MONDO:0001020 amblyopia skos:exactMatch DOID:10376 amblyopia semapv:UnspecifiedMatching MONDO:0001020 amblyopia skos:exactMatch NCIT:C118764 Amblyopia semapv:UnspecifiedMatching MONDO:0001020 amblyopia skos:exactMatch SCTID:387742006 semapv:UnspecifiedMatching MONDO:0001020 amblyopia skos:exactMatch UMLS:C0002418 semapv:UnspecifiedMatching MONDO:0001020 amblyopia skos:exactMatch mesh:D000550 semapv:UnspecifiedMatching MONDO:0001021 ametropic amblyopia skos:exactMatch DOID:10377 refractive amblyopia semapv:UnspecifiedMatching MONDO:0001021 ametropic amblyopia skos:exactMatch SCTID:90927000 semapv:UnspecifiedMatching MONDO:0001021 ametropic amblyopia skos:exactMatch UMLS:C0152190 semapv:UnspecifiedMatching MONDO:0001022 disuse amblyopia skos:exactMatch DOID:10378 deprivation amblyopia semapv:UnspecifiedMatching MONDO:0001022 disuse amblyopia skos:exactMatch SCTID:193638002 semapv:UnspecifiedMatching MONDO:0001022 disuse amblyopia skos:exactMatch UMLS:C0152189 semapv:UnspecifiedMatching MONDO:0001023 prolymphocytic leukemia skos:exactMatch DOID:1039 prolymphocytic leukemia semapv:UnspecifiedMatching MONDO:0001023 prolymphocytic leukemia skos:exactMatch NCIT:C3181 Prolymphocytic Leukemia semapv:UnspecifiedMatching MONDO:0001023 prolymphocytic leukemia skos:exactMatch SCTID:110006004 semapv:UnspecifiedMatching MONDO:0001023 prolymphocytic leukemia skos:exactMatch UMLS:C0023486 semapv:UnspecifiedMatching MONDO:0001023 prolymphocytic leukemia skos:exactMatch mesh:D015463 semapv:UnspecifiedMatching MONDO:0001024 pneumonic plague skos:exactMatch DOID:10398 pneumonic plague semapv:UnspecifiedMatching MONDO:0001024 pneumonic plague skos:exactMatch ICD10CM:A20.2 Pneumonic plague semapv:UnspecifiedMatching MONDO:0001024 pneumonic plague skos:exactMatch SCTID:35339003 semapv:UnspecifiedMatching MONDO:0001024 pneumonic plague skos:exactMatch UMLS:C0524688 semapv:UnspecifiedMatching MONDO:0001025 seminal vesicle chronic gonorrhea skos:exactMatch DOID:10399 seminal vesicle chronic gonorrhea semapv:UnspecifiedMatching MONDO:0001025 seminal vesicle chronic gonorrhea skos:exactMatch SCTID:23975003 semapv:UnspecifiedMatching MONDO:0001025 seminal vesicle chronic gonorrhea skos:exactMatch UMLS:C0153205 semapv:UnspecifiedMatching MONDO:0001027 gonococcal seminal vesiculitis skos:exactMatch DOID:10400 gonococcal seminal vesiculitis semapv:UnspecifiedMatching MONDO:0001027 gonococcal seminal vesiculitis skos:exactMatch SCTID:301990003 semapv:UnspecifiedMatching MONDO:0001027 gonococcal seminal vesiculitis skos:exactMatch UMLS:C0578661 semapv:UnspecifiedMatching MONDO:0001028 acute pericementitis skos:exactMatch DOID:10423 acute pericementitis semapv:UnspecifiedMatching MONDO:0001028 acute pericementitis skos:exactMatch NCIT:C34354 Acute Periodontitis semapv:UnspecifiedMatching MONDO:0001028 acute pericementitis skos:exactMatch SCTID:21638000 semapv:UnspecifiedMatching MONDO:0001028 acute pericementitis skos:exactMatch UMLS:C0001342 semapv:UnspecifiedMatching MONDO:0001029 Klippel-Feil syndrome skos:exactMatch DOID:10426 Klippel-Feil syndrome semapv:UnspecifiedMatching MONDO:0001029 Klippel-Feil syndrome skos:exactMatch ICD10CM:Q76.1 Klippel-Feil syndrome semapv:UnspecifiedMatching MONDO:0001029 Klippel-Feil syndrome skos:exactMatch NCIT:C98967 Klippel-Feil Syndrome semapv:UnspecifiedMatching MONDO:0001029 Klippel-Feil syndrome skos:exactMatch OMIMPS:118100 semapv:UnspecifiedMatching MONDO:0001029 Klippel-Feil syndrome skos:exactMatch SCTID:5601008 semapv:UnspecifiedMatching MONDO:0001029 Klippel-Feil syndrome skos:exactMatch mesh:D007714 semapv:UnspecifiedMatching MONDO:0001030 keratoconus, stable condition skos:exactMatch DOID:10428 stable condition keratoconus semapv:UnspecifiedMatching MONDO:0001030 keratoconus, stable condition skos:exactMatch SCTID:193844000 semapv:UnspecifiedMatching MONDO:0001030 keratoconus, stable condition skos:exactMatch UMLS:C0155131 semapv:UnspecifiedMatching MONDO:0001031 purulent acute otitis media skos:exactMatch DOID:10435 purulent acute otitis media semapv:UnspecifiedMatching MONDO:0001031 purulent acute otitis media skos:exactMatch SCTID:194281003 semapv:UnspecifiedMatching MONDO:0001031 purulent acute otitis media skos:exactMatch UMLS:C0271431 semapv:UnspecifiedMatching MONDO:0001032 Mooren ulcer skos:exactMatch DOID:10439 Mooren's ulcer semapv:UnspecifiedMatching MONDO:0001032 Mooren ulcer skos:exactMatch Orphanet:519408 Mooren ulcer semapv:UnspecifiedMatching MONDO:0001032 Mooren ulcer skos:exactMatch SCTID:22440001 semapv:UnspecifiedMatching MONDO:0001032 Mooren ulcer skos:exactMatch UMLS:C0155072 semapv:UnspecifiedMatching MONDO:0001033 mycotic corneal ulcer skos:exactMatch DOID:10440 mycotic corneal ulcer semapv:UnspecifiedMatching MONDO:0001033 mycotic corneal ulcer skos:exactMatch SCTID:397977001 semapv:UnspecifiedMatching MONDO:0001033 mycotic corneal ulcer skos:exactMatch UMLS:C0155071 semapv:UnspecifiedMatching MONDO:0001034 marginal corneal ulcer skos:exactMatch DOID:10441 marginal corneal ulcer semapv:UnspecifiedMatching MONDO:0001034 marginal corneal ulcer skos:exactMatch SCTID:47398006 semapv:UnspecifiedMatching MONDO:0001034 marginal corneal ulcer skos:exactMatch UMLS:C0155067 semapv:UnspecifiedMatching MONDO:0001035 hypopyon ulcer skos:exactMatch DOID:10442 hypopyon ulcer semapv:UnspecifiedMatching MONDO:0001035 hypopyon ulcer skos:exactMatch SCTID:6395007 semapv:UnspecifiedMatching MONDO:0001035 hypopyon ulcer skos:exactMatch UMLS:C0155070 semapv:UnspecifiedMatching MONDO:0001036 hypopyon skos:exactMatch DOID:10443 hypopyon semapv:UnspecifiedMatching MONDO:0001036 hypopyon skos:exactMatch NCIT:C50593 Hypopyon semapv:UnspecifiedMatching MONDO:0001036 hypopyon skos:exactMatch SCTID:87807004 semapv:UnspecifiedMatching MONDO:0001036 hypopyon skos:exactMatch UMLS:C0020641 semapv:UnspecifiedMatching MONDO:0001037 ring corneal ulcer skos:exactMatch DOID:10444 ring corneal ulcer semapv:UnspecifiedMatching MONDO:0001037 ring corneal ulcer skos:exactMatch SCTID:111520007 semapv:UnspecifiedMatching MONDO:0001037 ring corneal ulcer skos:exactMatch UMLS:C0155068 semapv:UnspecifiedMatching MONDO:0001038 perforated corneal ulcer skos:exactMatch DOID:10445 perforated corneal ulcer semapv:UnspecifiedMatching MONDO:0001038 perforated corneal ulcer skos:exactMatch SCTID:46606001 semapv:UnspecifiedMatching MONDO:0001038 perforated corneal ulcer skos:exactMatch UMLS:C0151844 semapv:UnspecifiedMatching MONDO:0001039 tonsillitis skos:exactMatch DOID:10456 tonsillitis semapv:UnspecifiedMatching MONDO:0001039 tonsillitis skos:exactMatch ICD10CM:J35.01 Chronic tonsillitis semapv:UnspecifiedMatching MONDO:0001039 tonsillitis skos:exactMatch NCIT:C116006 Tonsillitis semapv:UnspecifiedMatching MONDO:0001039 tonsillitis skos:exactMatch SCTID:90979004 semapv:UnspecifiedMatching MONDO:0001039 tonsillitis skos:exactMatch UMLS:C0740402 semapv:UnspecifiedMatching MONDO:0001039 tonsillitis skos:exactMatch mesh:D014069 semapv:UnspecifiedMatching MONDO:0001040 nasopharyngitis skos:exactMatch DOID:10460 nasopharyngitis semapv:UnspecifiedMatching MONDO:0001040 nasopharyngitis skos:exactMatch NCIT:C34837 Nasopharyngitis semapv:UnspecifiedMatching MONDO:0001040 nasopharyngitis skos:exactMatch SCTID:47841006 semapv:UnspecifiedMatching MONDO:0001040 nasopharyngitis skos:exactMatch UMLS:C0027441 semapv:UnspecifiedMatching MONDO:0001040 nasopharyngitis skos:exactMatch mesh:D009304 semapv:UnspecifiedMatching MONDO:0001041 dentin caries skos:exactMatch DOID:10461 dentin caries semapv:UnspecifiedMatching MONDO:0001041 dentin caries skos:exactMatch SCTID:442551007 semapv:UnspecifiedMatching MONDO:0001041 dentin caries skos:exactMatch UMLS:C0266846 semapv:UnspecifiedMatching MONDO:0001042 patellar tendinitis skos:exactMatch DOID:10471 patellar tendinitis semapv:UnspecifiedMatching MONDO:0001042 patellar tendinitis skos:exactMatch ICD10CM:M76.5 Patellar tendinitis semapv:UnspecifiedMatching MONDO:0001042 patellar tendinitis skos:exactMatch SCTID:37785001 semapv:UnspecifiedMatching MONDO:0001042 patellar tendinitis skos:exactMatch UMLS:C0158317 semapv:UnspecifiedMatching MONDO:0001044 esophageal atresia skos:exactMatch DOID:10485 esophageal atresia semapv:UnspecifiedMatching MONDO:0001044 esophageal atresia skos:exactMatch NCIT:C87072 Esophageal Atresia semapv:UnspecifiedMatching MONDO:0001044 esophageal atresia skos:exactMatch SCTID:26179002 semapv:UnspecifiedMatching MONDO:0001044 esophageal atresia skos:exactMatch mesh:D004933 semapv:UnspecifiedMatching MONDO:0001045 intestinal atresia skos:exactMatch DOID:10486 intestinal atresia semapv:UnspecifiedMatching MONDO:0001045 intestinal atresia skos:exactMatch NCIT:C84790 Intestinal Atresia semapv:UnspecifiedMatching MONDO:0001045 intestinal atresia skos:exactMatch UMLS:C0021828 semapv:UnspecifiedMatching MONDO:0001045 intestinal atresia skos:exactMatch mesh:D007409 semapv:UnspecifiedMatching MONDO:0001046 imperforate anus skos:exactMatch DOID:10488 imperforate anus semapv:UnspecifiedMatching MONDO:0001046 imperforate anus skos:exactMatch NCIT:C84784 Imperforate Anus semapv:UnspecifiedMatching MONDO:0001046 imperforate anus skos:exactMatch OMIM:207500 anus, imperforate semapv:UnspecifiedMatching MONDO:0001046 imperforate anus skos:exactMatch OMIM:301800 anus, imperforate semapv:UnspecifiedMatching MONDO:0001046 imperforate anus skos:exactMatch SCTID:204731006 semapv:UnspecifiedMatching MONDO:0001046 imperforate anus skos:exactMatch mesh:D001006 semapv:UnspecifiedMatching MONDO:0001048 orbital granuloma skos:exactMatch DOID:10499 orbital granuloma semapv:UnspecifiedMatching MONDO:0001048 orbital granuloma skos:exactMatch SCTID:72776003 semapv:UnspecifiedMatching MONDO:0001048 orbital granuloma skos:exactMatch UMLS:C0155262 semapv:UnspecifiedMatching MONDO:0001049 Dressler syndrome skos:exactMatch DOID:10507 Dressler's syndrome semapv:UnspecifiedMatching MONDO:0001049 Dressler syndrome skos:exactMatch ICD10CM:I24.1 Dressler's syndrome semapv:UnspecifiedMatching MONDO:0001049 Dressler syndrome skos:exactMatch SCTID:66189004 semapv:UnspecifiedMatching MONDO:0001049 Dressler syndrome skos:exactMatch UMLS:C0152107 semapv:UnspecifiedMatching MONDO:0001050 malignant otitis externa skos:exactMatch DOID:10516 malignant otitis externa semapv:UnspecifiedMatching MONDO:0001050 malignant otitis externa skos:exactMatch ICD10CM:H60.2 Malignant otitis externa semapv:UnspecifiedMatching MONDO:0001050 malignant otitis externa skos:exactMatch SCTID:94146005 semapv:UnspecifiedMatching MONDO:0001050 malignant otitis externa skos:exactMatch UMLS:C0155395 semapv:UnspecifiedMatching MONDO:0001051 acute otitis externa skos:exactMatch DOID:10518 beach ear semapv:UnspecifiedMatching MONDO:0001051 acute otitis externa skos:exactMatch SCTID:30250000 semapv:UnspecifiedMatching MONDO:0001051 acute otitis externa skos:exactMatch UMLS:C0149948 semapv:UnspecifiedMatching MONDO:0001052 chronic fungal otitis externa skos:exactMatch DOID:10519 chronic fungal otitis externa semapv:UnspecifiedMatching MONDO:0001052 chronic fungal otitis externa skos:exactMatch SCTID:111898002 semapv:UnspecifiedMatching MONDO:0001052 chronic fungal otitis externa skos:exactMatch UMLS:C0155396 semapv:UnspecifiedMatching MONDO:0001053 acute infection of pinna skos:exactMatch DOID:10520 acute infection of pinna semapv:UnspecifiedMatching MONDO:0001053 acute infection of pinna skos:exactMatch SCTID:56663002 semapv:UnspecifiedMatching MONDO:0001053 acute infection of pinna skos:exactMatch UMLS:C0155392 semapv:UnspecifiedMatching MONDO:0001054 double pterygium skos:exactMatch DOID:10525 double pterygium semapv:UnspecifiedMatching MONDO:0001054 double pterygium skos:exactMatch SCTID:41564009 semapv:UnspecifiedMatching MONDO:0001054 double pterygium skos:exactMatch UMLS:C0155157 semapv:UnspecifiedMatching MONDO:0001055 conjunctival pterygium skos:exactMatch DOID:10526 conjunctival pterygium semapv:UnspecifiedMatching MONDO:0001056 gastric cancer skos:exactMatch DOID:10534 stomach cancer semapv:UnspecifiedMatching MONDO:0001056 gastric cancer skos:exactMatch ICD10CM:C16 Malignant neoplasm of stomach semapv:UnspecifiedMatching MONDO:0001056 gastric cancer skos:exactMatch NCIT:C9331 Malignant Gastric Neoplasm semapv:UnspecifiedMatching MONDO:0001056 gastric cancer skos:exactMatch OMIM:613659 gastric cancer semapv:UnspecifiedMatching MONDO:0001057 malignant gastric granular cell tumor skos:exactMatch DOID:10536 malignant gastric granular cell tumor semapv:UnspecifiedMatching MONDO:0001057 malignant gastric granular cell tumor skos:exactMatch NCIT:C5484 Malignant Gastric Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0001057 malignant gastric granular cell tumor skos:exactMatch UMLS:C1334585 semapv:UnspecifiedMatching MONDO:0001059 gastric lymphoma skos:exactMatch DOID:10540 gastric lymphoma semapv:UnspecifiedMatching MONDO:0001059 gastric lymphoma skos:exactMatch NCIT:C4636 Gastric Lymphoma semapv:UnspecifiedMatching MONDO:0001059 gastric lymphoma skos:exactMatch SCTID:276811008 semapv:UnspecifiedMatching MONDO:0001059 gastric lymphoma skos:exactMatch UMLS:C0349532 semapv:UnspecifiedMatching MONDO:0001060 microinvasive gastric cancer skos:exactMatch DOID:10541 microinvasive gastric cancer semapv:UnspecifiedMatching MONDO:0001060 microinvasive gastric cancer skos:exactMatch NCIT:C27131 Early Gastric Cancer semapv:UnspecifiedMatching MONDO:0001060 microinvasive gastric cancer skos:exactMatch SCTID:276809004 semapv:UnspecifiedMatching MONDO:0001060 microinvasive gastric cancer skos:exactMatch UMLS:C0349530 semapv:UnspecifiedMatching MONDO:0001061 pylorus cancer skos:exactMatch DOID:10544 pylorus cancer semapv:UnspecifiedMatching MONDO:0001061 pylorus cancer skos:exactMatch SCTID:187736009 semapv:UnspecifiedMatching MONDO:0001061 pylorus cancer skos:exactMatch UMLS:C0153418 semapv:UnspecifiedMatching MONDO:0001062 pyloric antrum cancer skos:exactMatch DOID:10547 pyloric antrum cancer semapv:UnspecifiedMatching MONDO:0001062 pyloric antrum cancer skos:exactMatch SCTID:187740000 semapv:UnspecifiedMatching MONDO:0001062 pyloric antrum cancer skos:exactMatch UMLS:C0153419 semapv:UnspecifiedMatching MONDO:0001063 cardia cancer skos:exactMatch DOID:10548 cardia cancer semapv:UnspecifiedMatching MONDO:0001063 cardia cancer skos:exactMatch SCTID:187732006 semapv:UnspecifiedMatching MONDO:0001063 cardia cancer skos:exactMatch UMLS:C0153417 semapv:UnspecifiedMatching MONDO:0001064 acute eustachian salpingitis skos:exactMatch DOID:10550 acute eustachian salpingitis semapv:UnspecifiedMatching MONDO:0001064 acute eustachian salpingitis skos:exactMatch SCTID:194268005 semapv:UnspecifiedMatching MONDO:0001064 acute eustachian salpingitis skos:exactMatch UMLS:C0155429 semapv:UnspecifiedMatching MONDO:0001065 supine hypotensive syndrome skos:exactMatch DOID:10556 supine hypotensive syndrome semapv:UnspecifiedMatching MONDO:0001065 supine hypotensive syndrome skos:exactMatch SCTID:88887003 semapv:UnspecifiedMatching MONDO:0001066 late yaws skos:exactMatch DOID:10567 late yaws semapv:UnspecifiedMatching MONDO:0001066 late yaws skos:exactMatch ICD10CM:A66.4 Gummata and ulcers of yaws semapv:UnspecifiedMatching MONDO:0001066 late yaws skos:exactMatch NCIT:C41354 Late Yaws semapv:UnspecifiedMatching MONDO:0001066 late yaws skos:exactMatch SCTID:186968004 semapv:UnspecifiedMatching MONDO:0001066 late yaws skos:exactMatch UMLS:C1517744 semapv:UnspecifiedMatching MONDO:0001067 early yaws skos:exactMatch DOID:10568 early yaws semapv:UnspecifiedMatching MONDO:0001067 early yaws skos:exactMatch NCIT:C41352 Early Yaws semapv:UnspecifiedMatching MONDO:0001067 early yaws skos:exactMatch SCTID:23191004 semapv:UnspecifiedMatching MONDO:0001067 early yaws skos:exactMatch UMLS:C0275998 semapv:UnspecifiedMatching MONDO:0001068 osteomalacia skos:exactMatch DOID:10573 osteomalacia semapv:UnspecifiedMatching MONDO:0001068 osteomalacia skos:exactMatch NCIT:C26838 Osteomalacia semapv:UnspecifiedMatching MONDO:0001068 osteomalacia skos:exactMatch SCTID:4598005 semapv:UnspecifiedMatching MONDO:0001068 osteomalacia skos:exactMatch mesh:D010018 semapv:UnspecifiedMatching MONDO:0001071 intellectual disability skos:exactMatch DOID:1059 intellectual disability semapv:UnspecifiedMatching MONDO:0001071 intellectual disability skos:exactMatch ICD10CM:F70-F79 Intellectual Disabilities (F70-F79) semapv:UnspecifiedMatching MONDO:0001071 intellectual disability skos:exactMatch NCIT:C97250 Intellectual Disability semapv:UnspecifiedMatching MONDO:0001071 intellectual disability skos:exactMatch SCTID:91138005 semapv:UnspecifiedMatching MONDO:0001071 intellectual disability skos:exactMatch mesh:D008607 semapv:UnspecifiedMatching MONDO:0001072 mild pre-eclampsia skos:exactMatch DOID:10590 mild pre-eclampsia semapv:UnspecifiedMatching MONDO:0001072 mild pre-eclampsia skos:exactMatch SCTID:41114007 semapv:UnspecifiedMatching MONDO:0001073 idiopathic progressive polyneuropathy skos:exactMatch DOID:10593 idiopathic progressive polyneuropathy semapv:UnspecifiedMatching MONDO:0001073 idiopathic progressive polyneuropathy skos:exactMatch SCTID:33209009 semapv:UnspecifiedMatching MONDO:0001073 idiopathic progressive polyneuropathy skos:exactMatch UMLS:C0154756 semapv:UnspecifiedMatching MONDO:0001074 chronic tic disorder skos:exactMatch DOID:10600 chronic tic disorder semapv:UnspecifiedMatching MONDO:0001074 chronic tic disorder skos:exactMatch ICD10CM:F95.1 Chronic motor or vocal tic disorder semapv:UnspecifiedMatching MONDO:0001074 chronic tic disorder skos:exactMatch NCIT:C116768 Chronic Tic Disorder semapv:UnspecifiedMatching MONDO:0001075 steatorrhea skos:exactMatch NCIT:C86917 Steatorrhea semapv:UnspecifiedMatching MONDO:0001075 steatorrhea skos:exactMatch SCTID:27868004 semapv:UnspecifiedMatching MONDO:0001075 steatorrhea skos:exactMatch mesh:D045602 semapv:UnspecifiedMatching MONDO:0001076 glucose intolerance skos:exactMatch DOID:10603 glucose intolerance semapv:UnspecifiedMatching MONDO:0001076 glucose intolerance skos:exactMatch NCIT:C34646 Glucose Intolerance semapv:UnspecifiedMatching MONDO:0001076 glucose intolerance skos:exactMatch SCTID:267426009 semapv:UnspecifiedMatching MONDO:0001076 glucose intolerance skos:exactMatch UMLS:C0271650 semapv:UnspecifiedMatching MONDO:0001076 glucose intolerance skos:exactMatch mesh:D018149 semapv:UnspecifiedMatching MONDO:0001078 tropical sprue skos:exactMatch DOID:10607 tropical sprue semapv:UnspecifiedMatching MONDO:0001078 tropical sprue skos:exactMatch ICD10CM:K90.1 Tropical sprue semapv:UnspecifiedMatching MONDO:0001078 tropical sprue skos:exactMatch NCIT:C45428 Tropical Sprue semapv:UnspecifiedMatching MONDO:0001078 tropical sprue skos:exactMatch SCTID:47384003 semapv:UnspecifiedMatching MONDO:0001078 tropical sprue skos:exactMatch UMLS:C0038054 semapv:UnspecifiedMatching MONDO:0001078 tropical sprue skos:exactMatch mesh:D013182 semapv:UnspecifiedMatching MONDO:0001079 pancreatic steatorrhea skos:exactMatch DOID:10610 pancreatic steatorrhea semapv:UnspecifiedMatching MONDO:0001079 pancreatic steatorrhea skos:exactMatch ICD10CM:K90.3 Pancreatic steatorrhea semapv:UnspecifiedMatching MONDO:0001079 pancreatic steatorrhea skos:exactMatch SCTID:54576000 semapv:UnspecifiedMatching MONDO:0001079 pancreatic steatorrhea skos:exactMatch UMLS:C0152166 semapv:UnspecifiedMatching MONDO:0001080 acute gonococcal cervicitis skos:exactMatch DOID:10615 acute gonococcal cervicitis semapv:UnspecifiedMatching MONDO:0001080 acute gonococcal cervicitis skos:exactMatch SCTID:20943002 semapv:UnspecifiedMatching MONDO:0001080 acute gonococcal cervicitis skos:exactMatch UMLS:C0153195 semapv:UnspecifiedMatching MONDO:0001081 acute cervicitis skos:exactMatch DOID:10616 acute cervicitis semapv:UnspecifiedMatching MONDO:0001081 acute cervicitis skos:exactMatch NCIT:C27056 Acute Cervicitis semapv:UnspecifiedMatching MONDO:0001081 acute cervicitis skos:exactMatch SCTID:19272000 semapv:UnspecifiedMatching MONDO:0001081 acute cervicitis skos:exactMatch UMLS:C0269061 semapv:UnspecifiedMatching MONDO:0001082 lymph node cancer skos:exactMatch DOID:10619 lymph node cancer semapv:UnspecifiedMatching MONDO:0001082 lymph node cancer skos:exactMatch NCIT:C35812 Malignant Lymph Node Neoplasm semapv:UnspecifiedMatching MONDO:0001082 lymph node cancer skos:exactMatch SCTID:127232002 semapv:UnspecifiedMatching MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch DOID:1062 Fanconi syndrome semapv:UnspecifiedMatching MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch NCIT:C3034 Fanconi Syndrome semapv:UnspecifiedMatching MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch SCTID:40488004 semapv:UnspecifiedMatching MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch UMLS:C0015624 semapv:UnspecifiedMatching MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch mesh:D005198 semapv:UnspecifiedMatching MONDO:0001084 primary optic atrophy skos:exactMatch DOID:10627 primary optic atrophy semapv:UnspecifiedMatching MONDO:0001084 primary optic atrophy skos:exactMatch SCTID:21098003 semapv:UnspecifiedMatching MONDO:0001084 primary optic atrophy skos:exactMatch UMLS:C0155291 semapv:UnspecifiedMatching MONDO:0001085 interstitial nephritis skos:exactMatch DOID:1063 interstitial nephritis semapv:UnspecifiedMatching MONDO:0001085 interstitial nephritis skos:exactMatch ICD10CM:N10-N16 Renal tubulo-interstitial diseases (N10-N16) semapv:UnspecifiedMatching MONDO:0001085 interstitial nephritis skos:exactMatch NCIT:C26834 Interstitial Nephritis semapv:UnspecifiedMatching MONDO:0001085 interstitial nephritis skos:exactMatch SCTID:28689008 semapv:UnspecifiedMatching MONDO:0001085 interstitial nephritis skos:exactMatch UMLS:C0041349 semapv:UnspecifiedMatching MONDO:0001085 interstitial nephritis skos:exactMatch mesh:D009395 semapv:UnspecifiedMatching MONDO:0001086 partial optic atrophy skos:exactMatch DOID:10631 partial optic atrophy semapv:UnspecifiedMatching MONDO:0001086 partial optic atrophy skos:exactMatch SCTID:111527005 semapv:UnspecifiedMatching MONDO:0001086 partial optic atrophy skos:exactMatch UMLS:C0155295 semapv:UnspecifiedMatching MONDO:0001087 schizotypal personality disorder skos:exactMatch DOID:10646 schizotypal personality disorder semapv:UnspecifiedMatching MONDO:0001087 schizotypal personality disorder skos:exactMatch NCIT:C92632 Schizotypal Personality Disorder semapv:UnspecifiedMatching MONDO:0001087 schizotypal personality disorder skos:exactMatch SCTID:31027006 semapv:UnspecifiedMatching MONDO:0001087 schizotypal personality disorder skos:exactMatch mesh:D012569 semapv:UnspecifiedMatching MONDO:0001088 acute inferoposterior infarction skos:exactMatch DOID:10648 acute inferoposterior infarction semapv:UnspecifiedMatching MONDO:0001088 acute inferoposterior infarction skos:exactMatch SCTID:76593002 semapv:UnspecifiedMatching MONDO:0001088 acute inferoposterior infarction skos:exactMatch UMLS:C0340304 semapv:UnspecifiedMatching MONDO:0001089 acute inferolateral myocardial infarction skos:exactMatch DOID:10649 acute inferolateral myocardial infarction semapv:UnspecifiedMatching MONDO:0001089 acute inferolateral myocardial infarction skos:exactMatch SCTID:65547006 semapv:UnspecifiedMatching MONDO:0001089 acute inferolateral myocardial infarction skos:exactMatch UMLS:C0340308 semapv:UnspecifiedMatching MONDO:0001090 acute anterolateral myocardial infarction skos:exactMatch DOID:10651 acute anterolateral myocardial infarction semapv:UnspecifiedMatching MONDO:0001090 acute anterolateral myocardial infarction skos:exactMatch SCTID:70211005 semapv:UnspecifiedMatching MONDO:0001090 acute anterolateral myocardial infarction skos:exactMatch UMLS:C0155627 semapv:UnspecifiedMatching MONDO:0001091 lipoma of colon skos:exactMatch DOID:10655 lipoma of colon semapv:UnspecifiedMatching MONDO:0001091 lipoma of colon skos:exactMatch NCIT:C5493 Colon Lipoma semapv:UnspecifiedMatching MONDO:0001091 lipoma of colon skos:exactMatch UMLS:C0940607 semapv:UnspecifiedMatching MONDO:0001092 colon leiomyoma skos:exactMatch DOID:10656 colon leiomyoma semapv:UnspecifiedMatching MONDO:0001092 colon leiomyoma skos:exactMatch NCIT:C5492 Colon Leiomyoma semapv:UnspecifiedMatching MONDO:0001092 colon leiomyoma skos:exactMatch UMLS:C1333092 semapv:UnspecifiedMatching MONDO:0001093 colonic lymphangioma skos:exactMatch DOID:10657 colonic lymphangioma semapv:UnspecifiedMatching MONDO:0001093 colonic lymphangioma skos:exactMatch NCIT:C5500 Colon Lymphangioma semapv:UnspecifiedMatching MONDO:0001093 colonic lymphangioma skos:exactMatch UMLS:C1333094 semapv:UnspecifiedMatching MONDO:0001094 residual stage of open angle glaucoma skos:exactMatch DOID:1066 residual stage of open angle glaucoma semapv:UnspecifiedMatching MONDO:0001094 residual stage of open angle glaucoma skos:exactMatch SCTID:66990007 semapv:UnspecifiedMatching MONDO:0001094 residual stage of open angle glaucoma skos:exactMatch UMLS:C0154944 semapv:UnspecifiedMatching MONDO:0001095 mediastinum neuroblastoma skos:exactMatch DOID:10660 mediastinum neuroblastoma semapv:UnspecifiedMatching MONDO:0001095 mediastinum neuroblastoma skos:exactMatch NCIT:C6628 Mediastinal Neuroblastoma semapv:UnspecifiedMatching MONDO:0001095 mediastinum neuroblastoma skos:exactMatch UMLS:C1334673 semapv:UnspecifiedMatching MONDO:0001096 mediastinum ganglioneuroblastoma skos:exactMatch DOID:10661 mediastinum ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0001096 mediastinum ganglioneuroblastoma skos:exactMatch NCIT:C6627 Mediastinal Ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0001096 mediastinum ganglioneuroblastoma skos:exactMatch UMLS:C1334653 semapv:UnspecifiedMatching MONDO:0001098 separation anxiety disorder skos:exactMatch DOID:10685 separation anxiety disorder semapv:UnspecifiedMatching MONDO:0001098 separation anxiety disorder skos:exactMatch NCIT:C35014 Separation Anxiety Disorder semapv:UnspecifiedMatching MONDO:0001098 separation anxiety disorder skos:exactMatch SCTID:11806006 semapv:UnspecifiedMatching MONDO:0001098 separation anxiety disorder skos:exactMatch mesh:D001010 semapv:UnspecifiedMatching MONDO:0001099 lactocele skos:exactMatch DOID:10686 lactocele semapv:UnspecifiedMatching MONDO:0001099 lactocele skos:exactMatch NCIT:C3515 Galactocele semapv:UnspecifiedMatching MONDO:0001099 lactocele skos:exactMatch SCTID:42385006 semapv:UnspecifiedMatching MONDO:0001099 lactocele skos:exactMatch mesh:C535998 semapv:UnspecifiedMatching MONDO:0001100 hypertrophy of breast skos:exactMatch DOID:10688 hypertrophy of breast semapv:UnspecifiedMatching MONDO:0001100 hypertrophy of breast skos:exactMatch ICD10CM:N62 Hypertrophy of breast semapv:UnspecifiedMatching MONDO:0001100 hypertrophy of breast skos:exactMatch NCIT:C3125 Breast Hypertrophy semapv:UnspecifiedMatching MONDO:0001100 hypertrophy of breast skos:exactMatch SCTID:372281005 semapv:UnspecifiedMatching MONDO:0001101 fat necrosis of breast skos:exactMatch DOID:10691 fat necrosis of breast semapv:UnspecifiedMatching MONDO:0001101 fat necrosis of breast skos:exactMatch ICD10CM:N64.1 Fat necrosis of breast semapv:UnspecifiedMatching MONDO:0001101 fat necrosis of breast skos:exactMatch NCIT:C3661 Breast Fat Necrosis semapv:UnspecifiedMatching MONDO:0001101 fat necrosis of breast skos:exactMatch SCTID:21381006 semapv:UnspecifiedMatching MONDO:0001101 fat necrosis of breast skos:exactMatch UMLS:C0156321 semapv:UnspecifiedMatching MONDO:0001103 giardiasis skos:exactMatch DOID:10718 giardiasis semapv:UnspecifiedMatching MONDO:0001103 giardiasis skos:exactMatch SCTID:10679007 semapv:UnspecifiedMatching MONDO:0001103 giardiasis skos:exactMatch UMLS:C0017536 semapv:UnspecifiedMatching MONDO:0001103 giardiasis skos:exactMatch mesh:D005873 semapv:UnspecifiedMatching MONDO:0001104 toxic diffuse goiter skos:exactMatch DOID:10719 toxic diffuse goiter semapv:UnspecifiedMatching MONDO:0001104 toxic diffuse goiter skos:exactMatch SCTID:267374005 semapv:UnspecifiedMatching MONDO:0001105 renal hypertension skos:exactMatch DOID:1073 renal hypertension semapv:UnspecifiedMatching MONDO:0001105 renal hypertension skos:exactMatch SCTID:28119000 semapv:UnspecifiedMatching MONDO:0001105 renal hypertension skos:exactMatch UMLS:C0020544 semapv:UnspecifiedMatching MONDO:0001105 renal hypertension skos:exactMatch mesh:D006977 semapv:UnspecifiedMatching MONDO:0001106 kidney failure skos:exactMatch DOID:1074 kidney failure semapv:UnspecifiedMatching MONDO:0001106 kidney failure skos:exactMatch NCIT:C4376 Renal Failure semapv:UnspecifiedMatching MONDO:0001106 kidney failure skos:exactMatch SCTID:42399005 semapv:UnspecifiedMatching MONDO:0001106 kidney failure skos:exactMatch UMLS:C0035078 semapv:UnspecifiedMatching MONDO:0001106 kidney failure skos:exactMatch UMLS:C1565489 semapv:UnspecifiedMatching MONDO:0001106 kidney failure skos:exactMatch mesh:D051437 semapv:UnspecifiedMatching MONDO:0001108 broad ligament malignant neoplasm skos:exactMatch DOID:10744 broad ligament malignant neoplasm semapv:UnspecifiedMatching MONDO:0001108 broad ligament malignant neoplasm skos:exactMatch SCTID:449259009 semapv:UnspecifiedMatching MONDO:0001108 broad ligament malignant neoplasm skos:exactMatch UMLS:C0346866 semapv:UnspecifiedMatching MONDO:0001109 petrositis skos:exactMatch DOID:10755 petrositis semapv:UnspecifiedMatching MONDO:0001109 petrositis skos:exactMatch ICD10CM:H70.2 Petrositis semapv:UnspecifiedMatching MONDO:0001109 petrositis skos:exactMatch SCTID:28593007 semapv:UnspecifiedMatching MONDO:0001109 petrositis skos:exactMatch UMLS:C0155448 semapv:UnspecifiedMatching MONDO:0001109 petrositis skos:exactMatch mesh:D059270 semapv:UnspecifiedMatching MONDO:0001110 chronic pyelonephritis skos:exactMatch DOID:1076 chronic pyelonephritis semapv:UnspecifiedMatching MONDO:0001110 chronic pyelonephritis skos:exactMatch NCIT:C123216 Chronic Pyelonephritis semapv:UnspecifiedMatching MONDO:0001110 chronic pyelonephritis skos:exactMatch SCTID:63302006 semapv:UnspecifiedMatching MONDO:0001110 chronic pyelonephritis skos:exactMatch UMLS:C0085697 semapv:UnspecifiedMatching MONDO:0001112 bubonic plague skos:exactMatch DOID:10773 bubonic plague semapv:UnspecifiedMatching MONDO:0001112 bubonic plague skos:exactMatch ICD10CM:A20.0 Bubonic plague semapv:UnspecifiedMatching MONDO:0001112 bubonic plague skos:exactMatch SCTID:50797007 semapv:UnspecifiedMatching MONDO:0001112 bubonic plague skos:exactMatch UMLS:C0282312 semapv:UnspecifiedMatching MONDO:0001113 Fiedler's myocarditis skos:exactMatch DOID:10778 fiedler's myocarditis semapv:UnspecifiedMatching MONDO:0001113 Fiedler's myocarditis skos:exactMatch ICD10CM:I40.1 Isolated myocarditis semapv:UnspecifiedMatching MONDO:0001113 Fiedler's myocarditis skos:exactMatch SCTID:266238009 semapv:UnspecifiedMatching MONDO:0001113 Fiedler's myocarditis skos:exactMatch UMLS:C0155689 semapv:UnspecifiedMatching MONDO:0001114 bacterial myocarditis skos:exactMatch DOID:10779 septic myocarditis semapv:UnspecifiedMatching MONDO:0001114 bacterial myocarditis skos:exactMatch ICD10CM:I40.0 Infective myocarditis semapv:UnspecifiedMatching MONDO:0001114 bacterial myocarditis skos:exactMatch NCIT:C128380 Bacterial Myocarditis semapv:UnspecifiedMatching MONDO:0001114 bacterial myocarditis skos:exactMatch SCTID:64043005 semapv:UnspecifiedMatching MONDO:0001114 bacterial myocarditis skos:exactMatch UMLS:C1384588 semapv:UnspecifiedMatching MONDO:0001115 familial polycythemia skos:exactMatch DOID:10780 primary polycythemia semapv:UnspecifiedMatching MONDO:0001115 familial polycythemia skos:exactMatch NCIT:C26955 Familial Polycythemia semapv:UnspecifiedMatching MONDO:0001115 familial polycythemia skos:exactMatch OMIMPS:133100 semapv:UnspecifiedMatching MONDO:0001116 mesenteric lymphadenitis skos:exactMatch DOID:10782 mesenteric lymphadenitis semapv:UnspecifiedMatching MONDO:0001116 mesenteric lymphadenitis skos:exactMatch NCIT:C26830 Mesenteric Lymphadenitis semapv:UnspecifiedMatching MONDO:0001116 mesenteric lymphadenitis skos:exactMatch SCTID:44897000 semapv:UnspecifiedMatching MONDO:0001116 mesenteric lymphadenitis skos:exactMatch UMLS:C0025469 semapv:UnspecifiedMatching MONDO:0001116 mesenteric lymphadenitis skos:exactMatch mesh:D008640 semapv:UnspecifiedMatching MONDO:0001117 methemoglobinemia skos:exactMatch DOID:10783 methemoglobinemia semapv:UnspecifiedMatching MONDO:0001117 methemoglobinemia skos:exactMatch NCIT:C34817 Methemoglobinemia semapv:UnspecifiedMatching MONDO:0001117 methemoglobinemia skos:exactMatch SCTID:38959009 semapv:UnspecifiedMatching MONDO:0001117 methemoglobinemia skos:exactMatch UMLS:C0025637 semapv:UnspecifiedMatching MONDO:0001117 methemoglobinemia skos:exactMatch mesh:D008708 semapv:UnspecifiedMatching MONDO:0001118 Queensland tick typhus skos:exactMatch DOID:10784 Queensland tick typhus semapv:UnspecifiedMatching MONDO:0001118 Queensland tick typhus skos:exactMatch SCTID:68981009 semapv:UnspecifiedMatching MONDO:0001118 Queensland tick typhus skos:exactMatch UMLS:C2979888 semapv:UnspecifiedMatching MONDO:0001119 premature menopause skos:exactMatch DOID:10787 premature menopause semapv:UnspecifiedMatching MONDO:0001119 premature menopause skos:exactMatch NCIT:C80099 Premature Menopause semapv:UnspecifiedMatching MONDO:0001119 premature menopause skos:exactMatch SCTID:237788002 semapv:UnspecifiedMatching MONDO:0001119 premature menopause skos:exactMatch UMLS:C0025322 semapv:UnspecifiedMatching MONDO:0001119 premature menopause skos:exactMatch mesh:D008594 semapv:UnspecifiedMatching MONDO:0001120 chronic frontal sinusitis skos:exactMatch DOID:10790 chronic frontal sinusitis semapv:UnspecifiedMatching MONDO:0001120 chronic frontal sinusitis skos:exactMatch ICD10CM:J32.1 Chronic frontal sinusitis semapv:UnspecifiedMatching MONDO:0001120 chronic frontal sinusitis skos:exactMatch NCIT:C34473 Chronic Frontal Sinusitis semapv:UnspecifiedMatching MONDO:0001120 chronic frontal sinusitis skos:exactMatch SCTID:60130002 semapv:UnspecifiedMatching MONDO:0001120 chronic frontal sinusitis skos:exactMatch UMLS:C0008683 semapv:UnspecifiedMatching MONDO:0001121 frontal sinusitis skos:exactMatch DOID:10791 frontal sinusitis semapv:UnspecifiedMatching MONDO:0001121 frontal sinusitis skos:exactMatch NCIT:C34626 Frontal Sinusitis semapv:UnspecifiedMatching MONDO:0001121 frontal sinusitis skos:exactMatch SCTID:78737005 semapv:UnspecifiedMatching MONDO:0001121 frontal sinusitis skos:exactMatch UMLS:C0016735 semapv:UnspecifiedMatching MONDO:0001121 frontal sinusitis skos:exactMatch mesh:D015522 semapv:UnspecifiedMatching MONDO:0001122 chronic maxillary sinusitis skos:exactMatch DOID:10792 chronic maxillary sinusitis semapv:UnspecifiedMatching MONDO:0001122 chronic maxillary sinusitis skos:exactMatch ICD10CM:J32.0 Chronic maxillary sinusitis semapv:UnspecifiedMatching MONDO:0001122 chronic maxillary sinusitis skos:exactMatch NCIT:C34477 Chronic Maxillary Sinusitis semapv:UnspecifiedMatching MONDO:0001122 chronic maxillary sinusitis skos:exactMatch SCTID:35923002 semapv:UnspecifiedMatching MONDO:0001122 chronic maxillary sinusitis skos:exactMatch UMLS:C0008698 semapv:UnspecifiedMatching MONDO:0001123 chronic sphenoidal sinusitis skos:exactMatch DOID:10793 chronic sphenoidal sinusitis semapv:UnspecifiedMatching MONDO:0001123 chronic sphenoidal sinusitis skos:exactMatch ICD10CM:J32.3 Chronic sphenoidal sinusitis semapv:UnspecifiedMatching MONDO:0001123 chronic sphenoidal sinusitis skos:exactMatch NCIT:C34480 Chronic Sphenoidal Sinusitis semapv:UnspecifiedMatching MONDO:0001123 chronic sphenoidal sinusitis skos:exactMatch SCTID:38961000 semapv:UnspecifiedMatching MONDO:0001123 chronic sphenoidal sinusitis skos:exactMatch UMLS:C0008712 semapv:UnspecifiedMatching MONDO:0001125 acute gonococcal epididymo-orchitis skos:exactMatch DOID:10802 acute gonococcal epididymo-orchitis semapv:UnspecifiedMatching MONDO:0001125 acute gonococcal epididymo-orchitis skos:exactMatch SCTID:30168008 semapv:UnspecifiedMatching MONDO:0001125 acute gonococcal epididymo-orchitis skos:exactMatch UMLS:C0153193 semapv:UnspecifiedMatching MONDO:0001126 gastric ulcer skos:exactMatch DOID:10808 gastric ulcer semapv:UnspecifiedMatching MONDO:0001126 gastric ulcer skos:exactMatch ICD10CM:K25 Gastric ulcer semapv:UnspecifiedMatching MONDO:0001126 gastric ulcer skos:exactMatch NCIT:C3388 Gastric Ulcer semapv:UnspecifiedMatching MONDO:0001126 gastric ulcer skos:exactMatch SCTID:397825006 semapv:UnspecifiedMatching MONDO:0001126 gastric ulcer skos:exactMatch UMLS:C0038358 semapv:UnspecifiedMatching MONDO:0001126 gastric ulcer skos:exactMatch mesh:D013276 semapv:UnspecifiedMatching MONDO:0001127 tibialis tendinitis skos:exactMatch DOID:10810 tibialis tendinitis semapv:UnspecifiedMatching MONDO:0001127 tibialis tendinitis skos:exactMatch SCTID:50127006 semapv:UnspecifiedMatching MONDO:0001127 tibialis tendinitis skos:exactMatch UMLS:C0158321 semapv:UnspecifiedMatching MONDO:0001128 nasal cavity cancer skos:exactMatch DOID:10811 nasal cavity cancer semapv:UnspecifiedMatching MONDO:0001128 nasal cavity cancer skos:exactMatch NCIT:C4918 Malignant Nasal Cavity Neoplasm semapv:UnspecifiedMatching MONDO:0001128 nasal cavity cancer skos:exactMatch SCTID:363422006 semapv:UnspecifiedMatching MONDO:0001128 nasal cavity cancer skos:exactMatch UMLS:C0728864 semapv:UnspecifiedMatching MONDO:0001129 nasal cavity olfactory neuroblastoma skos:exactMatch DOID:10812 nasal cavity olfactory neuroblastoma semapv:UnspecifiedMatching MONDO:0001129 nasal cavity olfactory neuroblastoma skos:exactMatch NCIT:C7604 Nasal Cavity Olfactory Neuroblastoma semapv:UnspecifiedMatching MONDO:0001129 nasal cavity olfactory neuroblastoma skos:exactMatch UMLS:C1334923 semapv:UnspecifiedMatching MONDO:0001130 nasal cavity lymphoma skos:exactMatch DOID:10813 nasal cavity lymphoma semapv:UnspecifiedMatching MONDO:0001130 nasal cavity lymphoma skos:exactMatch NCIT:C6074 Nasal Cavity Lymphoma semapv:UnspecifiedMatching MONDO:0001130 nasal cavity lymphoma skos:exactMatch UMLS:C1334921 semapv:UnspecifiedMatching MONDO:0001132 sexual sadism disorder skos:exactMatch DOID:10817 sexual sadism semapv:UnspecifiedMatching MONDO:0001132 sexual sadism disorder skos:exactMatch ICD10CM:F65.52 Sexual sadism semapv:UnspecifiedMatching MONDO:0001132 sexual sadism disorder skos:exactMatch NCIT:C94358 Sexual Sadism semapv:UnspecifiedMatching MONDO:0001132 sexual sadism disorder skos:exactMatch SCTID:59394009 semapv:UnspecifiedMatching MONDO:0001132 sexual sadism disorder skos:exactMatch mesh:D012448 semapv:UnspecifiedMatching MONDO:0001133 malignant essential hypertension skos:exactMatch DOID:10823 malignant essential hypertension semapv:UnspecifiedMatching MONDO:0001133 malignant essential hypertension skos:exactMatch NCIT:C34802 Malignant Essential Hypertension semapv:UnspecifiedMatching MONDO:0001133 malignant essential hypertension skos:exactMatch SCTID:78975002 semapv:UnspecifiedMatching MONDO:0001133 malignant essential hypertension skos:exactMatch UMLS:C0024588 semapv:UnspecifiedMatching MONDO:0001134 essential hypertension skos:exactMatch DOID:10825 essential hypertension semapv:UnspecifiedMatching MONDO:0001134 essential hypertension skos:exactMatch SCTID:59621000 semapv:UnspecifiedMatching MONDO:0001134 essential hypertension skos:exactMatch UMLS:C0085580 semapv:UnspecifiedMatching MONDO:0001134 essential hypertension skos:exactMatch mesh:D000075222 semapv:UnspecifiedMatching MONDO:0001135 voyeurism skos:exactMatch DOID:10834 voyeurism semapv:UnspecifiedMatching MONDO:0001135 voyeurism skos:exactMatch ICD10CM:F65.3 Voyeurism semapv:UnspecifiedMatching MONDO:0001135 voyeurism skos:exactMatch NCIT:C94360 Voyeurism semapv:UnspecifiedMatching MONDO:0001135 voyeurism skos:exactMatch SCTID:63835008 semapv:UnspecifiedMatching MONDO:0001135 voyeurism skos:exactMatch mesh:D014843 semapv:UnspecifiedMatching MONDO:0001136 chylocele of tunica vaginalis skos:exactMatch DOID:10835 chylocele of tunica vaginalis semapv:UnspecifiedMatching MONDO:0001136 chylocele of tunica vaginalis skos:exactMatch SCTID:7864001 semapv:UnspecifiedMatching MONDO:0001136 chylocele of tunica vaginalis skos:exactMatch UMLS:C0156315 semapv:UnspecifiedMatching MONDO:0001137 Murray valley encephalitis skos:exactMatch DOID:10842 Murray Valley encephalitis semapv:UnspecifiedMatching MONDO:0001137 Murray valley encephalitis skos:exactMatch ICD10CM:A83.4 Australian encephalitis semapv:UnspecifiedMatching MONDO:0001137 Murray valley encephalitis skos:exactMatch SCTID:66454007 semapv:UnspecifiedMatching MONDO:0001137 Murray valley encephalitis skos:exactMatch UMLS:C0153066 semapv:UnspecifiedMatching MONDO:0001138 angiodysplasia of intestine skos:exactMatch DOID:10846 angiodysplasia of intestine semapv:UnspecifiedMatching MONDO:0001138 angiodysplasia of intestine skos:exactMatch SCTID:235853006 semapv:UnspecifiedMatching MONDO:0001138 angiodysplasia of intestine skos:exactMatch UMLS:C0267367 semapv:UnspecifiedMatching MONDO:0001139 sexual masochism disorder skos:exactMatch DOID:10849 sexual masochism semapv:UnspecifiedMatching MONDO:0001139 sexual masochism disorder skos:exactMatch ICD10CM:F65.51 Sexual masochism semapv:UnspecifiedMatching MONDO:0001139 sexual masochism disorder skos:exactMatch NCIT:C94356 Sexual Masochism semapv:UnspecifiedMatching MONDO:0001139 sexual masochism disorder skos:exactMatch SCTID:51239001 semapv:UnspecifiedMatching MONDO:0001139 sexual masochism disorder skos:exactMatch mesh:D008398 semapv:UnspecifiedMatching MONDO:0001141 middle ear cholesterol granuloma skos:exactMatch DOID:10852 middle ear cholesterol granuloma semapv:UnspecifiedMatching MONDO:0001141 middle ear cholesterol granuloma skos:exactMatch SCTID:28371001 semapv:UnspecifiedMatching MONDO:0001141 middle ear cholesterol granuloma skos:exactMatch UMLS:C0155492 semapv:UnspecifiedMatching MONDO:0001142 salivary gland disorder skos:exactMatch DOID:10854 salivary gland disease semapv:UnspecifiedMatching MONDO:0001142 salivary gland disorder skos:exactMatch NCIT:C26879 Salivary Gland Disorder semapv:UnspecifiedMatching MONDO:0001142 salivary gland disorder skos:exactMatch SCTID:10890000 semapv:UnspecifiedMatching MONDO:0001142 salivary gland disorder skos:exactMatch UMLS:C0149772 semapv:UnspecifiedMatching MONDO:0001142 salivary gland disorder skos:exactMatch mesh:D012466 semapv:UnspecifiedMatching MONDO:0001143 paralytic strabismus skos:exactMatch DOID:10863 paralytic squint semapv:UnspecifiedMatching MONDO:0001143 paralytic strabismus skos:exactMatch SCTID:400942002 semapv:UnspecifiedMatching MONDO:0001143 paralytic strabismus skos:exactMatch UMLS:C0152221 semapv:UnspecifiedMatching MONDO:0001144 partial third-nerve palsy skos:exactMatch DOID:10864 partial third-nerve palsy semapv:UnspecifiedMatching MONDO:0001144 partial third-nerve palsy skos:exactMatch SCTID:194118007 semapv:UnspecifiedMatching MONDO:0001144 partial third-nerve palsy skos:exactMatch UMLS:C0271370 semapv:UnspecifiedMatching MONDO:0001145 total third-nerve palsy skos:exactMatch DOID:10866 total third-nerve palsy semapv:UnspecifiedMatching MONDO:0001145 total third-nerve palsy skos:exactMatch SCTID:194119004 semapv:UnspecifiedMatching MONDO:0001145 total third-nerve palsy skos:exactMatch UMLS:C0271371 semapv:UnspecifiedMatching MONDO:0001146 fourth cranial nerve palsy skos:exactMatch DOID:10869 fourth cranial nerve palsy semapv:UnspecifiedMatching MONDO:0001146 fourth cranial nerve palsy skos:exactMatch SCTID:20610004 semapv:UnspecifiedMatching MONDO:0001147 meningocele skos:exactMatch DOID:1088 meningocele semapv:UnspecifiedMatching MONDO:0001147 meningocele skos:exactMatch NCIT:C101209 Spinal Meningocele semapv:UnspecifiedMatching MONDO:0001147 meningocele skos:exactMatch NCIT:C105595 Meningocele semapv:UnspecifiedMatching MONDO:0001147 meningocele skos:exactMatch SCTID:171131006 semapv:UnspecifiedMatching MONDO:0001147 meningocele skos:exactMatch UMLS:C0025299 semapv:UnspecifiedMatching MONDO:0001147 meningocele skos:exactMatch mesh:D008588 semapv:UnspecifiedMatching MONDO:0001148 iliac vein thrombophlebitis skos:exactMatch DOID:10880 iliac vein thrombophlebitis semapv:UnspecifiedMatching MONDO:0001148 iliac vein thrombophlebitis skos:exactMatch SCTID:42861008 semapv:UnspecifiedMatching MONDO:0001148 iliac vein thrombophlebitis skos:exactMatch UMLS:C0347887 semapv:UnspecifiedMatching MONDO:0001149 microcephaly skos:exactMatch DOID:10907 microcephaly semapv:UnspecifiedMatching MONDO:0001149 microcephaly skos:exactMatch NCIT:C85874 Microcephaly semapv:UnspecifiedMatching MONDO:0001149 microcephaly skos:exactMatch SCTID:1829003 semapv:UnspecifiedMatching MONDO:0001149 microcephaly skos:exactMatch mesh:D008831 semapv:UnspecifiedMatching MONDO:0001150 hydrocephalus skos:exactMatch DOID:10908 hydrocephalus semapv:UnspecifiedMatching MONDO:0001150 hydrocephalus skos:exactMatch ICD10CM:G91 Hydrocephalus semapv:UnspecifiedMatching MONDO:0001150 hydrocephalus skos:exactMatch NCIT:C3111 Hydrocephalus semapv:UnspecifiedMatching MONDO:0001150 hydrocephalus skos:exactMatch SCTID:230745008 semapv:UnspecifiedMatching MONDO:0001150 hydrocephalus skos:exactMatch mesh:D006849 semapv:UnspecifiedMatching MONDO:0001151 benign essential hypertension skos:exactMatch DOID:10913 benign essential hypertension semapv:UnspecifiedMatching MONDO:0001151 benign essential hypertension skos:exactMatch SCTID:1201005 semapv:UnspecifiedMatching MONDO:0001151 benign essential hypertension skos:exactMatch UMLS:C0155583 semapv:UnspecifiedMatching MONDO:0001152 amnestic disorder skos:exactMatch DOID:10914 amnestic disorder semapv:UnspecifiedMatching MONDO:0001152 amnestic disorder skos:exactMatch SCTID:3298001 semapv:UnspecifiedMatching MONDO:0001153 obsolete gender dysphoria skos:exactMatch DOID:10919 obsolete transsexualism semapv:UnspecifiedMatching MONDO:0001153 obsolete gender dysphoria skos:exactMatch Orphanet:459690 NON RARE IN EUROPE: Gender dysphoria semapv:UnspecifiedMatching MONDO:0001153 obsolete gender dysphoria skos:exactMatch SCTID:93461009 semapv:UnspecifiedMatching MONDO:0001153 obsolete gender dysphoria skos:exactMatch mesh:D000068116 semapv:UnspecifiedMatching MONDO:0001154 Siberian tick typhus skos:exactMatch DOID:10921 Siberian tick typhus semapv:UnspecifiedMatching MONDO:0001154 Siberian tick typhus skos:exactMatch SCTID:186781003 semapv:UnspecifiedMatching MONDO:0001154 Siberian tick typhus skos:exactMatch UMLS:C0549160 semapv:UnspecifiedMatching MONDO:0001155 gastrojejunal ulcer skos:exactMatch DOID:10927 gastrojejunal ulcer semapv:UnspecifiedMatching MONDO:0001155 gastrojejunal ulcer skos:exactMatch ICD10CM:K28.0 Acute gastrojejunal ulcer with hemorrhage semapv:UnspecifiedMatching MONDO:0001155 gastrojejunal ulcer skos:exactMatch SCTID:4269005 semapv:UnspecifiedMatching MONDO:0001155 gastrojejunal ulcer skos:exactMatch UMLS:C0156042 semapv:UnspecifiedMatching MONDO:0001155 gastrojejunal ulcer skos:exactMatch UMLS:C0156044 semapv:UnspecifiedMatching MONDO:0001155 gastrojejunal ulcer skos:exactMatch UMLS:C0156045 semapv:UnspecifiedMatching MONDO:0001155 gastrojejunal ulcer skos:exactMatch UMLS:C0156047 semapv:UnspecifiedMatching MONDO:0001155 gastrojejunal ulcer skos:exactMatch UMLS:C0156048 semapv:UnspecifiedMatching MONDO:0001155 gastrojejunal ulcer skos:exactMatch UMLS:C0156050 semapv:UnspecifiedMatching MONDO:0001156 borderline personality disorder skos:exactMatch DOID:10930 borderline personality disorder semapv:UnspecifiedMatching MONDO:0001156 borderline personality disorder skos:exactMatch NCIT:C92633 Borderline Personality Disorder semapv:UnspecifiedMatching MONDO:0001156 borderline personality disorder skos:exactMatch SCTID:20010003 semapv:UnspecifiedMatching MONDO:0001156 borderline personality disorder skos:exactMatch mesh:D001883 semapv:UnspecifiedMatching MONDO:0001157 dependent personality disorder skos:exactMatch DOID:10931 dependent personality disorder semapv:UnspecifiedMatching MONDO:0001157 dependent personality disorder skos:exactMatch ICD10CM:F60.7 Dependent personality disorder semapv:UnspecifiedMatching MONDO:0001157 dependent personality disorder skos:exactMatch NCIT:C92637 Dependent Personality Disorder semapv:UnspecifiedMatching MONDO:0001157 dependent personality disorder skos:exactMatch SCTID:84466009 semapv:UnspecifiedMatching MONDO:0001157 dependent personality disorder skos:exactMatch mesh:D003859 semapv:UnspecifiedMatching MONDO:0001158 obsessive-compulsive personality disorder skos:exactMatch DOID:10932 obsessive-compulsive personality disorder semapv:UnspecifiedMatching MONDO:0001158 obsessive-compulsive personality disorder skos:exactMatch ICD10CM:F60.5 Obsessive-compulsive personality disorder semapv:UnspecifiedMatching MONDO:0001158 obsessive-compulsive personality disorder skos:exactMatch NCIT:C92638 Obsessive-Compulsive Personality Disorder semapv:UnspecifiedMatching MONDO:0001158 obsessive-compulsive personality disorder skos:exactMatch SCTID:1376001 semapv:UnspecifiedMatching MONDO:0001158 obsessive-compulsive personality disorder skos:exactMatch mesh:D003193 semapv:UnspecifiedMatching MONDO:0001159 multiple personality disorder skos:exactMatch DOID:10934 multiple personality disorder semapv:UnspecifiedMatching MONDO:0001159 multiple personality disorder skos:exactMatch ICD10CM:F44.81 Dissociative identity disorder semapv:UnspecifiedMatching MONDO:0001159 multiple personality disorder skos:exactMatch NCIT:C94330 Dissociative Identity Disorder semapv:UnspecifiedMatching MONDO:0001159 multiple personality disorder skos:exactMatch SCTID:31611000 semapv:UnspecifiedMatching MONDO:0001159 multiple personality disorder skos:exactMatch mesh:D009105 semapv:UnspecifiedMatching MONDO:0001160 dissociative disorder skos:exactMatch DOID:10935 dissociative disorder semapv:UnspecifiedMatching MONDO:0001160 dissociative disorder skos:exactMatch NCIT:C92197 Dissociative Disorder semapv:UnspecifiedMatching MONDO:0001160 dissociative disorder skos:exactMatch mesh:D004213 semapv:UnspecifiedMatching MONDO:0001161 schizoid personality disorder skos:exactMatch DOID:10936 schizoid personality disorder semapv:UnspecifiedMatching MONDO:0001161 schizoid personality disorder skos:exactMatch ICD10CM:F60.1 Schizoid personality disorder semapv:UnspecifiedMatching MONDO:0001161 schizoid personality disorder skos:exactMatch NCIT:C92631 Schizoid Personality Disorder semapv:UnspecifiedMatching MONDO:0001161 schizoid personality disorder skos:exactMatch SCTID:52954000 semapv:UnspecifiedMatching MONDO:0001161 schizoid personality disorder skos:exactMatch mesh:D012557 semapv:UnspecifiedMatching MONDO:0001162 impulse control disorder skos:exactMatch DOID:10937 impulse control disorder semapv:UnspecifiedMatching MONDO:0001162 impulse control disorder skos:exactMatch NCIT:C34723 Impulse-Control Disorder semapv:UnspecifiedMatching MONDO:0001162 impulse control disorder skos:exactMatch SCTID:66347000 semapv:UnspecifiedMatching MONDO:0001163 paranoid personality disorder skos:exactMatch DOID:10938 paranoid personality disorder semapv:UnspecifiedMatching MONDO:0001163 paranoid personality disorder skos:exactMatch ICD10CM:F60.0 Paranoid personality disorder semapv:UnspecifiedMatching MONDO:0001163 paranoid personality disorder skos:exactMatch NCIT:C92630 Paranoid Personality Disorder semapv:UnspecifiedMatching MONDO:0001163 paranoid personality disorder skos:exactMatch SCTID:13601005 semapv:UnspecifiedMatching MONDO:0001163 paranoid personality disorder skos:exactMatch mesh:D010260 semapv:UnspecifiedMatching MONDO:0001164 antisocial personality disorder skos:exactMatch DOID:10939 antisocial personality disorder semapv:UnspecifiedMatching MONDO:0001164 antisocial personality disorder skos:exactMatch ICD10CM:F60.2 Antisocial personality disorder semapv:UnspecifiedMatching MONDO:0001164 antisocial personality disorder skos:exactMatch NCIT:C88413 Antisocial Personality Disorder semapv:UnspecifiedMatching MONDO:0001164 antisocial personality disorder skos:exactMatch SCTID:26665006 semapv:UnspecifiedMatching MONDO:0001164 antisocial personality disorder skos:exactMatch mesh:D000987 semapv:UnspecifiedMatching MONDO:0001165 tongue disorder skos:exactMatch DOID:10944 tongue disease semapv:UnspecifiedMatching MONDO:0001165 tongue disorder skos:exactMatch NCIT:C173793 Tongue Disorder semapv:UnspecifiedMatching MONDO:0001165 tongue disorder skos:exactMatch SCTID:69244009 semapv:UnspecifiedMatching MONDO:0001165 tongue disorder skos:exactMatch UMLS:C0040409 semapv:UnspecifiedMatching MONDO:0001165 tongue disorder skos:exactMatch mesh:D014060 semapv:UnspecifiedMatching MONDO:0001166 nephritis skos:exactMatch DOID:10952 nephritis semapv:UnspecifiedMatching MONDO:0001166 nephritis skos:exactMatch NCIT:C26833 Nephritis semapv:UnspecifiedMatching MONDO:0001166 nephritis skos:exactMatch SCTID:52845002 semapv:UnspecifiedMatching MONDO:0001166 nephritis skos:exactMatch UMLS:C0027697 semapv:UnspecifiedMatching MONDO:0001166 nephritis skos:exactMatch mesh:D009393 semapv:UnspecifiedMatching MONDO:0001167 spastic diplegia skos:exactMatch DOID:10965 spastic diplegia semapv:UnspecifiedMatching MONDO:0001167 spastic diplegia skos:exactMatch NCIT:C34781 Spastic Diplegia semapv:UnspecifiedMatching MONDO:0001167 spastic diplegia skos:exactMatch SCTID:281411007 semapv:UnspecifiedMatching MONDO:0001167 spastic diplegia skos:exactMatch SCTID:58193001 semapv:UnspecifiedMatching MONDO:0001167 spastic diplegia skos:exactMatch UMLS:C0270804 semapv:UnspecifiedMatching MONDO:0001167 spastic diplegia skos:exactMatch mesh:C537945 semapv:UnspecifiedMatching MONDO:0001168 spastic hemiplegia skos:exactMatch DOID:10967 spastic hemiplegia semapv:UnspecifiedMatching MONDO:0001168 spastic hemiplegia skos:exactMatch NCIT:C116905 Spastic Hemiplegia semapv:UnspecifiedMatching MONDO:0001168 spastic hemiplegia skos:exactMatch SCTID:79633009 semapv:UnspecifiedMatching MONDO:0001168 spastic hemiplegia skos:exactMatch UMLS:C0154694 semapv:UnspecifiedMatching MONDO:0001169 spastic monoplegia skos:exactMatch DOID:10968 spastic monoplegia semapv:UnspecifiedMatching MONDO:0001169 spastic monoplegia skos:exactMatch UMLS:C0154698 semapv:UnspecifiedMatching MONDO:0001170 hemiplegia skos:exactMatch DOID:10969 hemiplegia semapv:UnspecifiedMatching MONDO:0001170 hemiplegia skos:exactMatch SCTID:1593000 semapv:UnspecifiedMatching MONDO:0001170 hemiplegia skos:exactMatch mesh:D006429 semapv:UnspecifiedMatching MONDO:0001171 acute salpingo-oophoritis skos:exactMatch DOID:10971 acute salpingo-oophoritis semapv:UnspecifiedMatching MONDO:0001171 acute salpingo-oophoritis skos:exactMatch SCTID:266581008 semapv:UnspecifiedMatching MONDO:0001171 acute salpingo-oophoritis skos:exactMatch UMLS:C0156327 semapv:UnspecifiedMatching MONDO:0001172 salpingo-oophoritis skos:exactMatch DOID:10972 salpingo-oophoritis semapv:UnspecifiedMatching MONDO:0001172 salpingo-oophoritis skos:exactMatch NCIT:C171201 Salpingo-Oophoritis semapv:UnspecifiedMatching MONDO:0001172 salpingo-oophoritis skos:exactMatch SCTID:46536000 semapv:UnspecifiedMatching MONDO:0001172 salpingo-oophoritis skos:exactMatch UMLS:C0036133 semapv:UnspecifiedMatching MONDO:0001173 acute salpingitis skos:exactMatch DOID:10973 acute salpingitis semapv:UnspecifiedMatching MONDO:0001173 acute salpingitis skos:exactMatch ICD10CM:N70.01 Acute salpingitis semapv:UnspecifiedMatching MONDO:0001173 acute salpingitis skos:exactMatch NCIT:C40120 Acute Salpingitis semapv:UnspecifiedMatching MONDO:0001173 acute salpingitis skos:exactMatch SCTID:8912009 semapv:UnspecifiedMatching MONDO:0001173 acute salpingitis skos:exactMatch UMLS:C0269038 semapv:UnspecifiedMatching MONDO:0001174 conjunctival vascular disorder skos:exactMatch DOID:10989 conjunctival vascular disease semapv:UnspecifiedMatching MONDO:0001174 conjunctival vascular disorder skos:exactMatch NCIT:C35116 Conjunctival Vascular Disorder semapv:UnspecifiedMatching MONDO:0001174 conjunctival vascular disorder skos:exactMatch SCTID:74100001 semapv:UnspecifiedMatching MONDO:0001175 immature cataract skos:exactMatch DOID:10997 immature cataract semapv:UnspecifiedMatching MONDO:0001175 immature cataract skos:exactMatch SCTID:446474007 semapv:UnspecifiedMatching MONDO:0001175 immature cataract skos:exactMatch UMLS:C2960113 semapv:UnspecifiedMatching MONDO:0001176 lens disorder skos:exactMatch DOID:110 lens disease semapv:UnspecifiedMatching MONDO:0001176 lens disorder skos:exactMatch ICD10CM:H25-H28 Disorders of lens (H25-H28) semapv:UnspecifiedMatching MONDO:0001176 lens disorder skos:exactMatch NCIT:C26812 Lens Disorder semapv:UnspecifiedMatching MONDO:0001176 lens disorder skos:exactMatch SCTID:10810001 semapv:UnspecifiedMatching MONDO:0001176 lens disorder skos:exactMatch UMLS:C0549651 semapv:UnspecifiedMatching MONDO:0001176 lens disorder skos:exactMatch mesh:D007905 semapv:UnspecifiedMatching MONDO:0001177 anorectal stricture skos:exactMatch DOID:11014 anorectal stricture semapv:UnspecifiedMatching MONDO:0001177 anorectal stricture skos:exactMatch SCTID:197216007 semapv:UnspecifiedMatching MONDO:0001178 pseudopterygium skos:exactMatch DOID:11028 pseudopterygium semapv:UnspecifiedMatching MONDO:0001178 pseudopterygium skos:exactMatch SCTID:66139007 semapv:UnspecifiedMatching MONDO:0001178 pseudopterygium skos:exactMatch UMLS:C0155161 semapv:UnspecifiedMatching MONDO:0001179 pinguecula skos:exactMatch DOID:11029 pinguecula semapv:UnspecifiedMatching MONDO:0001179 pinguecula skos:exactMatch SCTID:87614000 semapv:UnspecifiedMatching MONDO:0001179 pinguecula skos:exactMatch UMLS:C0152255 semapv:UnspecifiedMatching MONDO:0001179 pinguecula skos:exactMatch mesh:D059407 semapv:UnspecifiedMatching MONDO:0001180 bullous keratopathy skos:exactMatch DOID:11031 bullous keratopathy semapv:UnspecifiedMatching MONDO:0001180 bullous keratopathy skos:exactMatch ICD10CM:H18.1 Bullous keratopathy semapv:UnspecifiedMatching MONDO:0001180 bullous keratopathy skos:exactMatch NCIT:C26970 Bullous Keratopathy semapv:UnspecifiedMatching MONDO:0001180 bullous keratopathy skos:exactMatch SCTID:57207003 semapv:UnspecifiedMatching MONDO:0001180 bullous keratopathy skos:exactMatch UMLS:C0155111 semapv:UnspecifiedMatching MONDO:0001181 secondary corneal edema skos:exactMatch DOID:11032 secondary corneal edema semapv:UnspecifiedMatching MONDO:0001181 secondary corneal edema skos:exactMatch SCTID:27536004 semapv:UnspecifiedMatching MONDO:0001181 secondary corneal edema skos:exactMatch UMLS:C0155110 semapv:UnspecifiedMatching MONDO:0001182 idiopathic corneal edema skos:exactMatch DOID:11033 idiopathic corneal edema semapv:UnspecifiedMatching MONDO:0001182 idiopathic corneal edema skos:exactMatch SCTID:1794009 semapv:UnspecifiedMatching MONDO:0001182 idiopathic corneal edema skos:exactMatch UMLS:C0155109 semapv:UnspecifiedMatching MONDO:0001183 contact lens corneal edema skos:exactMatch DOID:11034 contact lens corneal edema semapv:UnspecifiedMatching MONDO:0001183 contact lens corneal edema skos:exactMatch SCTID:49362009 semapv:UnspecifiedMatching MONDO:0001183 contact lens corneal edema skos:exactMatch UMLS:C0474442 semapv:UnspecifiedMatching MONDO:0001184 chronic rapidly progressive glomerulonephritis skos:exactMatch DOID:11036 chronic rapidly progressive glomerulonephritis semapv:UnspecifiedMatching MONDO:0001184 chronic rapidly progressive glomerulonephritis skos:exactMatch SCTID:197614002 semapv:UnspecifiedMatching MONDO:0001184 chronic rapidly progressive glomerulonephritis skos:exactMatch UMLS:C0341694 semapv:UnspecifiedMatching MONDO:0001185 dissociative amnesia skos:exactMatch DOID:11037 dissociative amnesia semapv:UnspecifiedMatching MONDO:0001185 dissociative amnesia skos:exactMatch ICD10CM:F44.0 Dissociative amnesia semapv:UnspecifiedMatching MONDO:0001185 dissociative amnesia skos:exactMatch NCIT:C94328 Dissociative Amnesia semapv:UnspecifiedMatching MONDO:0001185 dissociative amnesia skos:exactMatch SCTID:84209002 semapv:UnspecifiedMatching MONDO:0001186 depersonalization disorder skos:exactMatch DOID:11038 depersonalization disorder semapv:UnspecifiedMatching MONDO:0001186 depersonalization disorder skos:exactMatch NCIT:C94331 Depersonalization Disorder semapv:UnspecifiedMatching MONDO:0001186 depersonalization disorder skos:exactMatch SCTID:70764005 semapv:UnspecifiedMatching MONDO:0001187 urinary bladder cancer skos:exactMatch DOID:11054 urinary bladder cancer semapv:UnspecifiedMatching MONDO:0001187 urinary bladder cancer skos:exactMatch NCIT:C9334 Malignant Bladder Neoplasm semapv:UnspecifiedMatching MONDO:0001187 urinary bladder cancer skos:exactMatch OMIM:109800 bladder cancer semapv:UnspecifiedMatching MONDO:0001187 urinary bladder cancer skos:exactMatch SCTID:399326009 semapv:UnspecifiedMatching MONDO:0001187 urinary bladder cancer skos:exactMatch UMLS:C0005684 semapv:UnspecifiedMatching MONDO:0001188 esophagus lymphoma skos:exactMatch DOID:1106 esophagus lymphoma semapv:UnspecifiedMatching MONDO:0001188 esophagus lymphoma skos:exactMatch NCIT:C5687 Esophageal Lymphoma semapv:UnspecifiedMatching MONDO:0001188 esophagus lymphoma skos:exactMatch UMLS:C1333459 semapv:UnspecifiedMatching MONDO:0001190 Brucella suis brucellosis skos:exactMatch DOID:11076 Brucella suis brucellosis semapv:UnspecifiedMatching MONDO:0001191 hirudiniasis skos:exactMatch DOID:11079 leech infestation semapv:UnspecifiedMatching MONDO:0001191 hirudiniasis skos:exactMatch SCTID:64351000 semapv:UnspecifiedMatching MONDO:0001191 hirudiniasis skos:exactMatch UMLS:C0019575 semapv:UnspecifiedMatching MONDO:0001192 esophageal melanoma skos:exactMatch DOID:1108 esophagus melanoma semapv:UnspecifiedMatching MONDO:0001192 esophageal melanoma skos:exactMatch NCIT:C5707 Esophageal Melanoma semapv:UnspecifiedMatching MONDO:0001192 esophageal melanoma skos:exactMatch UMLS:C1333460 semapv:UnspecifiedMatching MONDO:0001193 obsolete chorioretinal scar skos:exactMatch DOID:11086 chorioretinal scar semapv:UnspecifiedMatching MONDO:0001193 obsolete chorioretinal scar skos:exactMatch SCTID:53854005 semapv:UnspecifiedMatching MONDO:0001195 spotted fever skos:exactMatch DOID:11104 spotted fever semapv:UnspecifiedMatching MONDO:0001195 spotted fever skos:exactMatch ICD10CM:A77 Spotted fever [tick-borne rickettsioses] semapv:UnspecifiedMatching MONDO:0001195 spotted fever skos:exactMatch Orphanet:102022 Spotted fever rickettsiosis semapv:UnspecifiedMatching MONDO:0001195 spotted fever skos:exactMatch SCTID:186771002 semapv:UnspecifiedMatching MONDO:0001196 psychologic dyspareunia skos:exactMatch DOID:11120 psychologic dyspareunia semapv:UnspecifiedMatching MONDO:0001196 psychologic dyspareunia skos:exactMatch SCTID:41021005 semapv:UnspecifiedMatching MONDO:0001196 psychologic dyspareunia skos:exactMatch mesh:D004414 semapv:UnspecifiedMatching MONDO:0001197 qualitative platelet defect skos:exactMatch DOID:11125 qualitative platelet defect semapv:UnspecifiedMatching MONDO:0001197 qualitative platelet defect skos:exactMatch SCTID:267532001 semapv:UnspecifiedMatching MONDO:0001197 qualitative platelet defect skos:exactMatch UMLS:C0235604 semapv:UnspecifiedMatching MONDO:0001198 acquired thrombocytopenia skos:exactMatch DOID:11126 acquired thrombocytopenia semapv:UnspecifiedMatching MONDO:0001198 acquired thrombocytopenia skos:exactMatch SCTID:74576004 semapv:UnspecifiedMatching MONDO:0001198 acquired thrombocytopenia skos:exactMatch UMLS:C0154301 semapv:UnspecifiedMatching MONDO:0001199 dislocation of ear ossicle skos:exactMatch DOID:11129 dislocation of ear ossicle semapv:UnspecifiedMatching MONDO:0001199 dislocation of ear ossicle skos:exactMatch SCTID:87040007 semapv:UnspecifiedMatching MONDO:0001200 secondary hypertension skos:exactMatch DOID:11130 secondary hypertension semapv:UnspecifiedMatching MONDO:0001200 secondary hypertension skos:exactMatch SCTID:31992008 semapv:UnspecifiedMatching MONDO:0001200 secondary hypertension skos:exactMatch UMLS:C0155616 semapv:UnspecifiedMatching MONDO:0001202 prostatic cyst skos:exactMatch DOID:11133 prostatic cyst semapv:UnspecifiedMatching MONDO:0001202 prostatic cyst skos:exactMatch ICD10CM:N42.83 Cyst of prostate semapv:UnspecifiedMatching MONDO:0001202 prostatic cyst skos:exactMatch SCTID:409658007 semapv:UnspecifiedMatching MONDO:0001202 prostatic cyst skos:exactMatch UMLS:C1443972 semapv:UnspecifiedMatching MONDO:0001203 prolapse of lacrimal gland skos:exactMatch DOID:11134 prolapse of lacrimal gland semapv:UnspecifiedMatching MONDO:0001203 prolapse of lacrimal gland skos:exactMatch SCTID:84777002 semapv:UnspecifiedMatching MONDO:0001203 prolapse of lacrimal gland skos:exactMatch UMLS:C0155231 semapv:UnspecifiedMatching MONDO:0001204 esophagus sarcoma skos:exactMatch DOID:1114 esophagus sarcoma semapv:UnspecifiedMatching MONDO:0001204 esophagus sarcoma skos:exactMatch NCIT:C5341 Esophageal Sarcoma semapv:UnspecifiedMatching MONDO:0001204 esophagus sarcoma skos:exactMatch UMLS:C1333466 semapv:UnspecifiedMatching MONDO:0001205 hypersecretion glaucoma skos:exactMatch DOID:11148 hypersecretion glaucoma semapv:UnspecifiedMatching MONDO:0001205 hypersecretion glaucoma skos:exactMatch SCTID:29369005 semapv:UnspecifiedMatching MONDO:0001205 hypersecretion glaucoma skos:exactMatch UMLS:C0154968 semapv:UnspecifiedMatching MONDO:0001206 aqueous misdirection skos:exactMatch DOID:11149 aqueous misdirection semapv:UnspecifiedMatching MONDO:0001207 neonatal respiratory failure skos:exactMatch DOID:11161 neonatal respiratory failure semapv:UnspecifiedMatching MONDO:0001207 neonatal respiratory failure skos:exactMatch ICD10CM:P28.5 Respiratory failure of newborn semapv:UnspecifiedMatching MONDO:0001207 neonatal respiratory failure skos:exactMatch SCTID:95619009 semapv:UnspecifiedMatching MONDO:0001207 neonatal respiratory failure skos:exactMatch UMLS:C0521648 semapv:UnspecifiedMatching MONDO:0001208 acute respiratory failure skos:exactMatch NCIT:C27043 Acute Respiratory Failure semapv:UnspecifiedMatching MONDO:0001208 acute respiratory failure skos:exactMatch SCTID:65710008 semapv:UnspecifiedMatching MONDO:0001208 acute respiratory failure skos:exactMatch UMLS:C0264490 semapv:UnspecifiedMatching MONDO:0001209 common wart skos:exactMatch DOID:11165 common wart semapv:UnspecifiedMatching MONDO:0001209 common wart skos:exactMatch NCIT:C27087 Verruca Vulgaris semapv:UnspecifiedMatching MONDO:0001209 common wart skos:exactMatch SCTID:57019003 semapv:UnspecifiedMatching MONDO:0001209 common wart skos:exactMatch UMLS:C3665596 semapv:UnspecifiedMatching MONDO:0001209 common wart skos:exactMatch mesh:D014860 semapv:UnspecifiedMatching MONDO:0001210 enophthalmos skos:exactMatch DOID:11175 enophthalmos semapv:UnspecifiedMatching MONDO:0001210 enophthalmos skos:exactMatch SCTID:80093006 semapv:UnspecifiedMatching MONDO:0001210 enophthalmos skos:exactMatch UMLS:C0423224 semapv:UnspecifiedMatching MONDO:0001210 enophthalmos skos:exactMatch mesh:D015841 semapv:UnspecifiedMatching MONDO:0001211 total internal ophthalmoplegia skos:exactMatch DOID:11177 total internal ophthalmoplegia semapv:UnspecifiedMatching MONDO:0001211 total internal ophthalmoplegia skos:exactMatch SCTID:86266009 semapv:UnspecifiedMatching MONDO:0001211 total internal ophthalmoplegia skos:exactMatch UMLS:C0152197 semapv:UnspecifiedMatching MONDO:0001212 non-suppurative otitis media skos:exactMatch DOID:11180 non-suppurative otitis media semapv:UnspecifiedMatching MONDO:0001212 non-suppurative otitis media skos:exactMatch SCTID:275481002 semapv:UnspecifiedMatching MONDO:0001212 non-suppurative otitis media skos:exactMatch UMLS:C0271446 semapv:UnspecifiedMatching MONDO:0001213 serous glue ear skos:exactMatch DOID:11181 serous glue ear semapv:UnspecifiedMatching MONDO:0001213 serous glue ear skos:exactMatch SCTID:81564005 semapv:UnspecifiedMatching MONDO:0001213 serous glue ear skos:exactMatch UMLS:C0155421 semapv:UnspecifiedMatching MONDO:0001214 acute conjunctivitis skos:exactMatch DOID:11184 acute conjunctivitis semapv:UnspecifiedMatching MONDO:0001214 acute conjunctivitis skos:exactMatch NCIT:C35195 Acute Conjunctivitis semapv:UnspecifiedMatching MONDO:0001214 acute conjunctivitis skos:exactMatch SCTID:53726008 semapv:UnspecifiedMatching MONDO:0001214 acute conjunctivitis skos:exactMatch UMLS:C0155141 semapv:UnspecifiedMatching MONDO:0001215 allescheriosis skos:exactMatch DOID:11186 allescheriosis semapv:UnspecifiedMatching MONDO:0001215 allescheriosis skos:exactMatch SCTID:80936003 semapv:UnspecifiedMatching MONDO:0001215 allescheriosis skos:exactMatch UMLS:C0153285 semapv:UnspecifiedMatching MONDO:0001216 pulp degeneration skos:exactMatch DOID:11189 pulp degeneration semapv:UnspecifiedMatching MONDO:0001216 pulp degeneration skos:exactMatch ICD10CM:K04.2 Pulp degeneration semapv:UnspecifiedMatching MONDO:0001216 pulp degeneration skos:exactMatch SCTID:22361007 semapv:UnspecifiedMatching MONDO:0001216 pulp degeneration skos:exactMatch UMLS:C0034100 semapv:UnspecifiedMatching MONDO:0001217 pseudomembranous conjunctivitis skos:exactMatch DOID:11190 pseudomembranous conjunctivitis semapv:UnspecifiedMatching MONDO:0001217 pseudomembranous conjunctivitis skos:exactMatch NCIT:C35196 Pseudomembranous Conjunctivitis semapv:UnspecifiedMatching MONDO:0001217 pseudomembranous conjunctivitis skos:exactMatch SCTID:72115001 semapv:UnspecifiedMatching MONDO:0001217 pseudomembranous conjunctivitis skos:exactMatch UMLS:C0155144 semapv:UnspecifiedMatching MONDO:0001218 acute laryngopharyngitis skos:exactMatch DOID:11195 acute laryngopharyngitis semapv:UnspecifiedMatching MONDO:0001218 acute laryngopharyngitis skos:exactMatch ICD10CM:J06.0 Acute laryngopharyngitis semapv:UnspecifiedMatching MONDO:0001218 acute laryngopharyngitis skos:exactMatch SCTID:55355000 semapv:UnspecifiedMatching MONDO:0001218 acute laryngopharyngitis skos:exactMatch UMLS:C0155817 semapv:UnspecifiedMatching MONDO:0001219 serous conjunctivitis except viral skos:exactMatch DOID:11197 serous conjunctivitis except viral semapv:UnspecifiedMatching MONDO:0001219 serous conjunctivitis except viral skos:exactMatch SCTID:9824006 semapv:UnspecifiedMatching MONDO:0001219 serous conjunctivitis except viral skos:exactMatch UMLS:C0155142 semapv:UnspecifiedMatching MONDO:0001220 hypoparathyroidism skos:exactMatch DOID:11199 hypoparathyroidism semapv:UnspecifiedMatching MONDO:0001220 hypoparathyroidism skos:exactMatch ICD10CM:E20 Hypoparathyroidism semapv:UnspecifiedMatching MONDO:0001220 hypoparathyroidism skos:exactMatch NCIT:C78350 Hypoparathyroidism semapv:UnspecifiedMatching MONDO:0001220 hypoparathyroidism skos:exactMatch SCTID:36976004 semapv:UnspecifiedMatching MONDO:0001220 hypoparathyroidism skos:exactMatch mesh:D007011 semapv:UnspecifiedMatching MONDO:0001221 esophageal varices skos:exactMatch DOID:112 esophageal varix semapv:UnspecifiedMatching MONDO:0001221 esophageal varices skos:exactMatch ICD10CM:I85 Esophageal varices semapv:UnspecifiedMatching MONDO:0001221 esophageal varices skos:exactMatch NCIT:C53506 Esophageal Varices semapv:UnspecifiedMatching MONDO:0001221 esophageal varices skos:exactMatch SCTID:28670008 semapv:UnspecifiedMatching MONDO:0001221 esophageal varices skos:exactMatch mesh:D004932 semapv:UnspecifiedMatching MONDO:0001222 congenital T-cell immunodeficiency skos:exactMatch DOID:11200 T cell deficiency semapv:UnspecifiedMatching MONDO:0001222 congenital T-cell immunodeficiency skos:exactMatch NCIT:C27872 Congenital T-Cell Immunodeficiency semapv:UnspecifiedMatching MONDO:0001222 congenital T-cell immunodeficiency skos:exactMatch UMLS:C1333147 semapv:UnspecifiedMatching MONDO:0001223 parathyroid gland disorder skos:exactMatch DOID:11201 parathyroid gland disease semapv:UnspecifiedMatching MONDO:0001223 parathyroid gland disorder skos:exactMatch NCIT:C26844 Parathyroid Gland Disorder semapv:UnspecifiedMatching MONDO:0001223 parathyroid gland disorder skos:exactMatch SCTID:73132005 semapv:UnspecifiedMatching MONDO:0001223 parathyroid gland disorder skos:exactMatch UMLS:C4025822 semapv:UnspecifiedMatching MONDO:0001223 parathyroid gland disorder skos:exactMatch mesh:D010279 semapv:UnspecifiedMatching MONDO:0001224 Angelucci syndrome skos:exactMatch DOID:11203 Angelucci's syndrome semapv:UnspecifiedMatching MONDO:0001224 Angelucci syndrome skos:exactMatch ICD10CM:H10.1 Acute atopic conjunctivitis semapv:UnspecifiedMatching MONDO:0001224 Angelucci syndrome skos:exactMatch NCIT:C34353 Acute Atopic Conjunctivitis semapv:UnspecifiedMatching MONDO:0001224 Angelucci syndrome skos:exactMatch SCTID:67678004 semapv:UnspecifiedMatching MONDO:0001224 Angelucci syndrome skos:exactMatch UMLS:C0001309 semapv:UnspecifiedMatching MONDO:0001225 opioid abuse skos:exactMatch DOID:11206 opioid abuse semapv:UnspecifiedMatching MONDO:0001225 opioid abuse skos:exactMatch SCTID:5602001 semapv:UnspecifiedMatching MONDO:0001226 acute contagious conjunctivitis skos:exactMatch DOID:11213 acute contagious conjunctivitis semapv:UnspecifiedMatching MONDO:0001226 acute contagious conjunctivitis skos:exactMatch NCIT:C35704 Acute Contagious Conjunctivitis semapv:UnspecifiedMatching MONDO:0001226 acute contagious conjunctivitis skos:exactMatch SCTID:399219006 semapv:UnspecifiedMatching MONDO:0001226 acute contagious conjunctivitis skos:exactMatch UMLS:C1313983 semapv:UnspecifiedMatching MONDO:0001227 chronic tympanitis skos:exactMatch DOID:11217 chronic tympanitis semapv:UnspecifiedMatching MONDO:0001227 chronic tympanitis skos:exactMatch SCTID:89723004 semapv:UnspecifiedMatching MONDO:0001227 chronic tympanitis skos:exactMatch UMLS:C0395849 semapv:UnspecifiedMatching MONDO:0001228 conjunctival folliculosis skos:exactMatch DOID:11219 conjunctival folliculosis semapv:UnspecifiedMatching MONDO:0001228 conjunctival folliculosis skos:exactMatch SCTID:41308008 semapv:UnspecifiedMatching MONDO:0001228 conjunctival folliculosis skos:exactMatch UMLS:C0155143 semapv:UnspecifiedMatching MONDO:0001229 small intestine diverticulitis skos:exactMatch DOID:11223 small intestine diverticulitis semapv:UnspecifiedMatching MONDO:0001229 small intestine diverticulitis skos:exactMatch SCTID:56165008 semapv:UnspecifiedMatching MONDO:0001230 acute orbital inflammation skos:exactMatch DOID:11230 acute orbital inflammation semapv:UnspecifiedMatching MONDO:0001230 acute orbital inflammation skos:exactMatch SCTID:20551005 semapv:UnspecifiedMatching MONDO:0001231 orbital periostitis skos:exactMatch DOID:11231 orbital periostitis semapv:UnspecifiedMatching MONDO:0001231 orbital periostitis skos:exactMatch SCTID:65974003 semapv:UnspecifiedMatching MONDO:0001231 orbital periostitis skos:exactMatch UMLS:C0155257 semapv:UnspecifiedMatching MONDO:0001232 orbital osteomyelitis skos:exactMatch DOID:11232 orbital osteomyelitis semapv:UnspecifiedMatching MONDO:0001232 orbital osteomyelitis skos:exactMatch SCTID:65875003 semapv:UnspecifiedMatching MONDO:0001232 orbital osteomyelitis skos:exactMatch UMLS:C0155258 semapv:UnspecifiedMatching MONDO:0001233 orbital tenonitis skos:exactMatch DOID:11233 orbital tenonitis semapv:UnspecifiedMatching MONDO:0001233 orbital tenonitis skos:exactMatch SCTID:8976003 semapv:UnspecifiedMatching MONDO:0001233 orbital tenonitis skos:exactMatch UMLS:C0155259 semapv:UnspecifiedMatching MONDO:0001234 adhesive otitis media skos:exactMatch DOID:11235 adhesive otitis media semapv:UnspecifiedMatching MONDO:0001234 adhesive otitis media skos:exactMatch ICD10CM:H74.1 Adhesive middle ear disease semapv:UnspecifiedMatching MONDO:0001234 adhesive otitis media skos:exactMatch SCTID:7699004 semapv:UnspecifiedMatching MONDO:0001234 adhesive otitis media skos:exactMatch UMLS:C0155478 semapv:UnspecifiedMatching MONDO:0001235 appendix cancer skos:exactMatch DOID:11239 appendix cancer semapv:UnspecifiedMatching MONDO:0001235 appendix cancer skos:exactMatch NCIT:C9333 Malignant Appendix Neoplasm semapv:UnspecifiedMatching MONDO:0001235 appendix cancer skos:exactMatch SCTID:363411007 semapv:UnspecifiedMatching MONDO:0001235 appendix cancer skos:exactMatch UMLS:C0496779 semapv:UnspecifiedMatching MONDO:0001236 appendiceal neoplasm skos:exactMatch DOID:11240 appendiceal neoplasm semapv:UnspecifiedMatching MONDO:0001236 appendiceal neoplasm skos:exactMatch NCIT:C4434 Appendix Neoplasm semapv:UnspecifiedMatching MONDO:0001236 appendiceal neoplasm skos:exactMatch SCTID:126846004 semapv:UnspecifiedMatching MONDO:0001236 appendiceal neoplasm skos:exactMatch UMLS:C0003614 semapv:UnspecifiedMatching MONDO:0001236 appendiceal neoplasm skos:exactMatch mesh:D001063 semapv:UnspecifiedMatching MONDO:0001237 appendix lymphoma skos:exactMatch DOID:11241 appendix lymphoma semapv:UnspecifiedMatching MONDO:0001237 appendix lymphoma skos:exactMatch NCIT:C5513 Appendix Lymphoma semapv:UnspecifiedMatching MONDO:0001237 appendix lymphoma skos:exactMatch UMLS:C1332328 semapv:UnspecifiedMatching MONDO:0001238 polycythemia neonatorum skos:exactMatch DOID:11242 plethora of newborn semapv:UnspecifiedMatching MONDO:0001238 polycythemia neonatorum skos:exactMatch ICD10CM:P61.1 Polycythemia neonatorum semapv:UnspecifiedMatching MONDO:0001238 polycythemia neonatorum skos:exactMatch NCIT:C27069 Polycythemia Neonatorum semapv:UnspecifiedMatching MONDO:0001238 polycythemia neonatorum skos:exactMatch SCTID:32984002 semapv:UnspecifiedMatching MONDO:0001238 polycythemia neonatorum skos:exactMatch UMLS:C0272153 semapv:UnspecifiedMatching MONDO:0001239 anemia of prematurity skos:exactMatch DOID:11243 anemia of prematurity semapv:UnspecifiedMatching MONDO:0001239 anemia of prematurity skos:exactMatch ICD10CM:P61.2 Anemia of prematurity semapv:UnspecifiedMatching MONDO:0001239 anemia of prematurity skos:exactMatch NCIT:C97167 Anemia of Prematurity semapv:UnspecifiedMatching MONDO:0001239 anemia of prematurity skos:exactMatch SCTID:47100003 semapv:UnspecifiedMatching MONDO:0001239 anemia of prematurity skos:exactMatch UMLS:C0158996 semapv:UnspecifiedMatching MONDO:0001240 neonatal anemia skos:exactMatch DOID:11244 neonatal anemia semapv:UnspecifiedMatching MONDO:0001240 neonatal anemia skos:exactMatch SCTID:234350007 semapv:UnspecifiedMatching MONDO:0001240 neonatal anemia skos:exactMatch UMLS:C0002891 semapv:UnspecifiedMatching MONDO:0001240 neonatal anemia skos:exactMatch mesh:D000751 semapv:UnspecifiedMatching MONDO:0001241 transient neonatal neutropenia skos:exactMatch DOID:11245 transient neonatal neutropenia semapv:UnspecifiedMatching MONDO:0001241 transient neonatal neutropenia skos:exactMatch ICD10CM:P61.5 Transient neonatal neutropenia semapv:UnspecifiedMatching MONDO:0001241 transient neonatal neutropenia skos:exactMatch SCTID:55444004 semapv:UnspecifiedMatching MONDO:0001241 transient neonatal neutropenia skos:exactMatch UMLS:C0158997 semapv:UnspecifiedMatching MONDO:0001242 disseminated intravascular coagulation in newborn skos:exactMatch DOID:11246 DIC in newborn semapv:UnspecifiedMatching MONDO:0001242 disseminated intravascular coagulation in newborn skos:exactMatch NCIT:C111856 Disseminated Intravascular Coagulation in Newborn semapv:UnspecifiedMatching MONDO:0001242 disseminated intravascular coagulation in newborn skos:exactMatch SCTID:34417008 semapv:UnspecifiedMatching MONDO:0001242 disseminated intravascular coagulation in newborn skos:exactMatch UMLS:C0158992 semapv:UnspecifiedMatching MONDO:0001243 disseminated intravascular coagulation skos:exactMatch DOID:11247 disseminated intravascular coagulation semapv:UnspecifiedMatching MONDO:0001243 disseminated intravascular coagulation skos:exactMatch NCIT:C2992 Disseminated Intravascular Coagulation semapv:UnspecifiedMatching MONDO:0001243 disseminated intravascular coagulation skos:exactMatch SCTID:67406007 semapv:UnspecifiedMatching MONDO:0001243 disseminated intravascular coagulation skos:exactMatch UMLS:C0012739 semapv:UnspecifiedMatching MONDO:0001243 disseminated intravascular coagulation skos:exactMatch mesh:D004211 semapv:UnspecifiedMatching MONDO:0001244 vitamin K deficiency hemorrhagic disease skos:exactMatch DOID:11249 vitamin K deficiency bleeding semapv:UnspecifiedMatching MONDO:0001244 vitamin K deficiency hemorrhagic disease skos:exactMatch ICD10CM:E56.1 Deficiency of vitamin K semapv:UnspecifiedMatching MONDO:0001244 vitamin K deficiency hemorrhagic disease skos:exactMatch NCIT:C99108 Vitamin K Deficiency semapv:UnspecifiedMatching MONDO:0001244 vitamin K deficiency hemorrhagic disease skos:exactMatch SCTID:52675005 semapv:UnspecifiedMatching MONDO:0001244 vitamin K deficiency hemorrhagic disease skos:exactMatch UMLS:C0042880 semapv:UnspecifiedMatching MONDO:0001244 vitamin K deficiency hemorrhagic disease skos:exactMatch UMLS:C0272348 semapv:UnspecifiedMatching MONDO:0001244 vitamin K deficiency hemorrhagic disease skos:exactMatch mesh:D014813 semapv:UnspecifiedMatching MONDO:0001245 microcytic anemia skos:exactMatch DOID:11252 microcytic anemia semapv:UnspecifiedMatching MONDO:0001245 microcytic anemia skos:exactMatch NCIT:C35141 Microcytic Anemia semapv:UnspecifiedMatching MONDO:0001245 microcytic anemia skos:exactMatch SCTID:234349007 semapv:UnspecifiedMatching MONDO:0001246 typhus skos:exactMatch DOID:11256 typhus semapv:UnspecifiedMatching MONDO:0001246 typhus skos:exactMatch Orphanet:102023 Typhus-group rickettsiosis semapv:UnspecifiedMatching MONDO:0001246 typhus skos:exactMatch SCTID:240613006 semapv:UnspecifiedMatching MONDO:0001246 typhus skos:exactMatch UMLS:C0041471 semapv:UnspecifiedMatching MONDO:0001247 social phobia skos:exactMatch DOID:11257 social phobia semapv:UnspecifiedMatching MONDO:0001247 social phobia skos:exactMatch NCIT:C34927 Social Anxiety Disorder semapv:UnspecifiedMatching MONDO:0001247 social phobia skos:exactMatch SCTID:25501002 semapv:UnspecifiedMatching MONDO:0001247 social phobia skos:exactMatch mesh:D000072861 semapv:UnspecifiedMatching MONDO:0001249 trachoma skos:exactMatch DOID:11265 trachoma semapv:UnspecifiedMatching MONDO:0001249 trachoma skos:exactMatch SCTID:2576002 semapv:UnspecifiedMatching MONDO:0001249 trachoma skos:exactMatch UMLS:C0040592 semapv:UnspecifiedMatching MONDO:0001249 trachoma skos:exactMatch mesh:D014141 semapv:UnspecifiedMatching MONDO:0001250 keratomalacia skos:exactMatch DOID:11267 keratomalacia semapv:UnspecifiedMatching MONDO:0001250 keratomalacia skos:exactMatch SCTID:85149007 semapv:UnspecifiedMatching MONDO:0001250 keratomalacia skos:exactMatch UMLS:C0152455 semapv:UnspecifiedMatching MONDO:0001250 keratomalacia skos:exactMatch mesh:C536156 semapv:UnspecifiedMatching MONDO:0001251 chronic apical periodontitis skos:exactMatch DOID:11269 chronic apical periodontitis semapv:UnspecifiedMatching MONDO:0001251 chronic apical periodontitis skos:exactMatch ICD10CM:K04.5 Chronic apical periodontitis semapv:UnspecifiedMatching MONDO:0001251 chronic apical periodontitis skos:exactMatch SCTID:718052004 semapv:UnspecifiedMatching MONDO:0001251 chronic apical periodontitis skos:exactMatch UMLS:C0392492 semapv:UnspecifiedMatching MONDO:0001252 Plummer disease skos:exactMatch DOID:11277 Plummer's disease semapv:UnspecifiedMatching MONDO:0001252 Plummer disease skos:exactMatch NCIT:C35171 Toxic Nodular Goiter semapv:UnspecifiedMatching MONDO:0001252 Plummer disease skos:exactMatch SCTID:57777000 semapv:UnspecifiedMatching MONDO:0001252 Plummer disease skos:exactMatch UMLS:C0342127 semapv:UnspecifiedMatching MONDO:0001253 obsolete solar retinopathy skos:exactMatch DOID:11282 solar retinopathy semapv:UnspecifiedMatching MONDO:0001253 obsolete solar retinopathy skos:exactMatch SCTID:1135000 semapv:UnspecifiedMatching MONDO:0001253 obsolete solar retinopathy skos:exactMatch UMLS:C0152131 semapv:UnspecifiedMatching MONDO:0001254 obsolete peripheral scars of retina skos:exactMatch DOID:11283 peripheral scars of retina semapv:UnspecifiedMatching MONDO:0001255 ventilation pneumonitis skos:exactMatch DOID:11289 ventilation pneumonitis semapv:UnspecifiedMatching MONDO:0001255 ventilation pneumonitis skos:exactMatch SCTID:195990006 semapv:UnspecifiedMatching MONDO:0001255 ventilation pneumonitis skos:exactMatch UMLS:C0155891 semapv:UnspecifiedMatching MONDO:0001256 arteriovenous hemangioma/malformation skos:exactMatch DOID:11294 arteriovenous malformation semapv:UnspecifiedMatching MONDO:0001256 arteriovenous hemangioma/malformation skos:exactMatch NCIT:C2882 Arteriovenous Malformation/Hemangioma semapv:UnspecifiedMatching MONDO:0001256 arteriovenous hemangioma/malformation skos:exactMatch SCTID:233982006 semapv:UnspecifiedMatching MONDO:0001256 arteriovenous hemangioma/malformation skos:exactMatch UMLS:C0334533 semapv:UnspecifiedMatching MONDO:0001256 arteriovenous hemangioma/malformation skos:exactMatch mesh:D001165 semapv:UnspecifiedMatching MONDO:0001257 retinal microaneurysm skos:exactMatch DOID:11295 retinal microaneurysm semapv:UnspecifiedMatching MONDO:0001257 retinal microaneurysm skos:exactMatch SCTID:34037000 semapv:UnspecifiedMatching MONDO:0001257 retinal microaneurysm skos:exactMatch UMLS:C0154834 semapv:UnspecifiedMatching MONDO:0001258 vertebral artery occlusion skos:exactMatch DOID:11299 vertebral artery occlusion semapv:UnspecifiedMatching MONDO:0001258 vertebral artery occlusion skos:exactMatch ICD10CM:I65.0 Occlusion and stenosis of vertebral artery semapv:UnspecifiedMatching MONDO:0001258 vertebral artery occlusion skos:exactMatch SCTID:195182007 semapv:UnspecifiedMatching MONDO:0001259 pituitary gland infarction skos:exactMatch DOID:1130 pituitary infarct semapv:UnspecifiedMatching MONDO:0001259 pituitary gland infarction skos:exactMatch NCIT:C27117 Pituitary Gland Infarction semapv:UnspecifiedMatching MONDO:0001259 pituitary gland infarction skos:exactMatch SCTID:95830009 semapv:UnspecifiedMatching MONDO:0001259 pituitary gland infarction skos:exactMatch UMLS:C0342405 semapv:UnspecifiedMatching MONDO:0001260 cercarial dermatitis skos:exactMatch DOID:11302 cercarial dermatitis semapv:UnspecifiedMatching MONDO:0001260 cercarial dermatitis skos:exactMatch ICD10CM:B65.3 Cercarial dermatitis semapv:UnspecifiedMatching MONDO:0001260 cercarial dermatitis skos:exactMatch NCIT:C128349 Cercarial Dermatitis semapv:UnspecifiedMatching MONDO:0001260 cercarial dermatitis skos:exactMatch SCTID:238534006 semapv:UnspecifiedMatching MONDO:0001260 cercarial dermatitis skos:exactMatch UMLS:C0546996 semapv:UnspecifiedMatching MONDO:0001261 Mobitz type II atrioventricular block skos:exactMatch DOID:11312 Mobitz type II atrioventricular block semapv:UnspecifiedMatching MONDO:0001261 Mobitz type II atrioventricular block skos:exactMatch NCIT:C62018 AV Block Second Degree Mobitz Type II semapv:UnspecifiedMatching MONDO:0001261 Mobitz type II atrioventricular block skos:exactMatch SCTID:28189009 semapv:UnspecifiedMatching MONDO:0001261 Mobitz type II atrioventricular block skos:exactMatch UMLS:C0155700 semapv:UnspecifiedMatching MONDO:0001262 African histoplasmosis skos:exactMatch DOID:11315 African histoplasmosis semapv:UnspecifiedMatching MONDO:0001262 African histoplasmosis skos:exactMatch SCTID:78511005 semapv:UnspecifiedMatching MONDO:0001262 African histoplasmosis skos:exactMatch UMLS:C0220977 semapv:UnspecifiedMatching MONDO:0001263 histoplasmosis retinitis skos:exactMatch DOID:11316 histoplasmosis retinitis semapv:UnspecifiedMatching MONDO:0001263 histoplasmosis retinitis skos:exactMatch SCTID:187058000 semapv:UnspecifiedMatching MONDO:0001263 histoplasmosis retinitis skos:exactMatch UMLS:C0153278 semapv:UnspecifiedMatching MONDO:0001265 schizophreniform disorder skos:exactMatch DOID:11328 schizophreniform disorder semapv:UnspecifiedMatching MONDO:0001265 schizophreniform disorder skos:exactMatch ICD10CM:F20.81 Schizophreniform disorder semapv:UnspecifiedMatching MONDO:0001265 schizophreniform disorder skos:exactMatch NCIT:C94376 Schizophreniform Disorder semapv:UnspecifiedMatching MONDO:0001265 schizophreniform disorder skos:exactMatch SCTID:88975006 semapv:UnspecifiedMatching MONDO:0001266 erysipelas skos:exactMatch DOID:11330 erysipelas semapv:UnspecifiedMatching MONDO:0001266 erysipelas skos:exactMatch ICD10CM:A46 Erysipelas semapv:UnspecifiedMatching MONDO:0001266 erysipelas skos:exactMatch SCTID:44653001 semapv:UnspecifiedMatching MONDO:0001266 erysipelas skos:exactMatch UMLS:C0014733 semapv:UnspecifiedMatching MONDO:0001266 erysipelas skos:exactMatch mesh:D004886 semapv:UnspecifiedMatching MONDO:0001268 gingival recession skos:exactMatch DOID:1134 gingival recession semapv:UnspecifiedMatching MONDO:0001268 gingival recession skos:exactMatch ICD10CM:K06.0 Gingival recession semapv:UnspecifiedMatching MONDO:0001268 gingival recession skos:exactMatch SCTID:59898000 semapv:UnspecifiedMatching MONDO:0001268 gingival recession skos:exactMatch UMLS:C0017572 semapv:UnspecifiedMatching MONDO:0001268 gingival recession skos:exactMatch mesh:D005889 semapv:UnspecifiedMatching MONDO:0001269 scleral disorder skos:exactMatch DOID:11343 scleral disease semapv:UnspecifiedMatching MONDO:0001269 scleral disorder skos:exactMatch NCIT:C79717 Sclera Disorder semapv:UnspecifiedMatching MONDO:0001269 scleral disorder skos:exactMatch SCTID:33064008 semapv:UnspecifiedMatching MONDO:0001269 scleral disorder skos:exactMatch UMLS:C0036412 semapv:UnspecifiedMatching MONDO:0001269 scleral disorder skos:exactMatch mesh:D015422 semapv:UnspecifiedMatching MONDO:0001270 stone in bladder diverticulum skos:exactMatch DOID:11354 stone in bladder diverticulum semapv:UnspecifiedMatching MONDO:0001270 stone in bladder diverticulum skos:exactMatch SCTID:18109005 semapv:UnspecifiedMatching MONDO:0001270 stone in bladder diverticulum skos:exactMatch UMLS:C0156265 semapv:UnspecifiedMatching MONDO:0001271 lens subluxation skos:exactMatch DOID:11364 lens subluxation semapv:UnspecifiedMatching MONDO:0001271 lens subluxation skos:exactMatch NCIT:C34772 Lens Subluxation semapv:UnspecifiedMatching MONDO:0001271 lens subluxation skos:exactMatch SCTID:65814009 semapv:UnspecifiedMatching MONDO:0001271 lens subluxation skos:exactMatch UMLS:C0023316 semapv:UnspecifiedMatching MONDO:0001271 lens subluxation skos:exactMatch mesh:D007906 semapv:UnspecifiedMatching MONDO:0001272 functional diarrhea skos:exactMatch DOID:11371 functional diarrhea semapv:UnspecifiedMatching MONDO:0001272 functional diarrhea skos:exactMatch ICD10CM:K59.1 Functional diarrhea semapv:UnspecifiedMatching MONDO:0001272 functional diarrhea skos:exactMatch SCTID:47812002 semapv:UnspecifiedMatching MONDO:0001272 functional diarrhea skos:exactMatch UMLS:C0156173 semapv:UnspecifiedMatching MONDO:0001273 megacolon skos:exactMatch DOID:11372 megacolon semapv:UnspecifiedMatching MONDO:0001273 megacolon skos:exactMatch NCIT:C34810 Megacolon semapv:UnspecifiedMatching MONDO:0001273 megacolon skos:exactMatch SCTID:33995003 semapv:UnspecifiedMatching MONDO:0001273 megacolon skos:exactMatch mesh:D008531 semapv:UnspecifiedMatching MONDO:0001274 anal spasm skos:exactMatch DOID:11374 anal spasm semapv:UnspecifiedMatching MONDO:0001274 anal spasm skos:exactMatch ICD10CM:K59.4 Anal spasm semapv:UnspecifiedMatching MONDO:0001274 anal spasm skos:exactMatch SCTID:17440005 semapv:UnspecifiedMatching MONDO:0001274 anal spasm skos:exactMatch UMLS:C0152167 semapv:UnspecifiedMatching MONDO:0001275 spinal meningioma skos:exactMatch DOID:1138 spinal meningioma semapv:UnspecifiedMatching MONDO:0001275 spinal meningioma skos:exactMatch NCIT:C6935 Spinal Cord Meningioma semapv:UnspecifiedMatching MONDO:0001275 spinal meningioma skos:exactMatch SCTID:189167009 semapv:UnspecifiedMatching MONDO:0001275 spinal meningioma skos:exactMatch UMLS:C0347515 semapv:UnspecifiedMatching MONDO:0001276 expressive language disorder skos:exactMatch DOID:11385 expressive language disorder semapv:UnspecifiedMatching MONDO:0001276 expressive language disorder skos:exactMatch ICD10CM:F80.1 Expressive language disorder semapv:UnspecifiedMatching MONDO:0001276 expressive language disorder skos:exactMatch NCIT:C92562 Expressive Language Disorder semapv:UnspecifiedMatching MONDO:0001276 expressive language disorder skos:exactMatch SCTID:229733002 semapv:UnspecifiedMatching MONDO:0001277 cerebral arteritis skos:exactMatch DOID:11390 cerebral arteritis semapv:UnspecifiedMatching MONDO:0001277 cerebral arteritis skos:exactMatch SCTID:28366008 semapv:UnspecifiedMatching MONDO:0001277 cerebral arteritis skos:exactMatch UMLS:C0007773 semapv:UnspecifiedMatching MONDO:0001279 intraspinal meningioma skos:exactMatch DOID:1140 spinal canal and spinal cord meningioma semapv:UnspecifiedMatching MONDO:0001279 intraspinal meningioma skos:exactMatch NCIT:C5134 Spinal Meningioma semapv:UnspecifiedMatching MONDO:0001279 intraspinal meningioma skos:exactMatch UMLS:C1334264 semapv:UnspecifiedMatching MONDO:0001280 choroiditis skos:exactMatch DOID:11406 choroiditis semapv:UnspecifiedMatching MONDO:0001280 choroiditis skos:exactMatch NCIT:C35111 Posterior Uveitis semapv:UnspecifiedMatching MONDO:0001280 choroiditis skos:exactMatch Orphanet:280892 Posterior uveitis semapv:UnspecifiedMatching MONDO:0001280 choroiditis skos:exactMatch SCTID:16553002 semapv:UnspecifiedMatching MONDO:0001280 choroiditis skos:exactMatch UMLS:C0008526 semapv:UnspecifiedMatching MONDO:0001280 choroiditis skos:exactMatch mesh:D002833 semapv:UnspecifiedMatching MONDO:0001281 alternating exotropia skos:exactMatch DOID:1142 alternating exotropia semapv:UnspecifiedMatching MONDO:0001281 alternating exotropia skos:exactMatch ICD10CM:H50.15 Alternating exotropia semapv:UnspecifiedMatching MONDO:0001281 alternating exotropia skos:exactMatch SCTID:37214009 semapv:UnspecifiedMatching MONDO:0001281 alternating exotropia skos:exactMatch UMLS:C0152207 semapv:UnspecifiedMatching MONDO:0001282 fallopian tube endometriosis skos:exactMatch DOID:11424 fallopian tube endometriosis semapv:UnspecifiedMatching MONDO:0001282 fallopian tube endometriosis skos:exactMatch NCIT:C26763 Fallopian Tube Endometriosis semapv:UnspecifiedMatching MONDO:0001282 fallopian tube endometriosis skos:exactMatch SCTID:22611009 semapv:UnspecifiedMatching MONDO:0001282 fallopian tube endometriosis skos:exactMatch UMLS:C0014177 semapv:UnspecifiedMatching MONDO:0001283 endosalpingiosis skos:exactMatch DOID:11427 endosalpingiosis semapv:UnspecifiedMatching MONDO:0001283 endosalpingiosis skos:exactMatch NCIT:C40121 Peritoneal Endosalpingiosis semapv:UnspecifiedMatching MONDO:0001283 endosalpingiosis skos:exactMatch SCTID:55850004 semapv:UnspecifiedMatching MONDO:0001283 endosalpingiosis skos:exactMatch UMLS:C0269106 semapv:UnspecifiedMatching MONDO:0001284 endometriosis of intestine skos:exactMatch DOID:11428 endometriosis of intestine semapv:UnspecifiedMatching MONDO:0001284 endometriosis of intestine skos:exactMatch ICD10CM:N80.5 Endometriosis of intestine semapv:UnspecifiedMatching MONDO:0001284 endometriosis of intestine skos:exactMatch SCTID:5562006 semapv:UnspecifiedMatching MONDO:0001284 endometriosis of intestine skos:exactMatch UMLS:C0156347 semapv:UnspecifiedMatching MONDO:0001285 endometriosis of pelvic peritoneum skos:exactMatch DOID:11429 endometriosis of pelvic peritoneum semapv:UnspecifiedMatching MONDO:0001285 endometriosis of pelvic peritoneum skos:exactMatch ICD10CM:N80.3 Endometriosis of pelvic peritoneum semapv:UnspecifiedMatching MONDO:0001285 endometriosis of pelvic peritoneum skos:exactMatch SCTID:198251001 semapv:UnspecifiedMatching MONDO:0001285 endometriosis of pelvic peritoneum skos:exactMatch UMLS:C0156345 semapv:UnspecifiedMatching MONDO:0001286 exotropia skos:exactMatch DOID:1143 exotropia semapv:UnspecifiedMatching MONDO:0001286 exotropia skos:exactMatch ICD10CM:H50.1 Exotropia semapv:UnspecifiedMatching MONDO:0001286 exotropia skos:exactMatch NCIT:C34601 Divergent Strabismus semapv:UnspecifiedMatching MONDO:0001286 exotropia skos:exactMatch SCTID:399252000 semapv:UnspecifiedMatching MONDO:0001286 exotropia skos:exactMatch UMLS:C0015310 semapv:UnspecifiedMatching MONDO:0001286 exotropia skos:exactMatch mesh:D005099 semapv:UnspecifiedMatching MONDO:0001287 endometriosis in cutaneous scar skos:exactMatch DOID:11430 endometriosis in scar of skin semapv:UnspecifiedMatching MONDO:0001287 endometriosis in cutaneous scar skos:exactMatch ICD10CM:N80.6 Endometriosis in cutaneous scar semapv:UnspecifiedMatching MONDO:0001287 endometriosis in cutaneous scar skos:exactMatch SCTID:53913001 semapv:UnspecifiedMatching MONDO:0001287 endometriosis in cutaneous scar skos:exactMatch UMLS:C0156348 semapv:UnspecifiedMatching MONDO:0001288 endometriosis of rectovaginal septum and vagina skos:exactMatch DOID:11431 endometriosis of rectovaginal septum and vagina semapv:UnspecifiedMatching MONDO:0001288 endometriosis of rectovaginal septum and vagina skos:exactMatch ICD10CM:N80.4 Endometriosis of rectovaginal septum and vagina semapv:UnspecifiedMatching MONDO:0001288 endometriosis of rectovaginal septum and vagina skos:exactMatch NCIT:C128064 Vaginal Endometriosis semapv:UnspecifiedMatching MONDO:0001288 endometriosis of rectovaginal septum and vagina skos:exactMatch SCTID:198253003 semapv:UnspecifiedMatching MONDO:0001288 endometriosis of rectovaginal septum and vagina skos:exactMatch UMLS:C0156346 semapv:UnspecifiedMatching MONDO:0001290 allergic cutaneous vasculitis skos:exactMatch DOID:11450 allergic cutaneous vasculitis semapv:UnspecifiedMatching MONDO:0001290 allergic cutaneous vasculitis skos:exactMatch NCIT:C35119 Allergic Cutaneous Angiitis semapv:UnspecifiedMatching MONDO:0001291 brain compression skos:exactMatch DOID:11457 brain compression semapv:UnspecifiedMatching MONDO:0001291 brain compression skos:exactMatch ICD10CM:G93.5 Compression of brain semapv:UnspecifiedMatching MONDO:0001291 brain compression skos:exactMatch SCTID:46963008 semapv:UnspecifiedMatching MONDO:0001291 brain compression skos:exactMatch UMLS:C0009592 semapv:UnspecifiedMatching MONDO:0001292 autonomic nervous system disorder skos:exactMatch DOID:11465 autonomic nervous system disease semapv:UnspecifiedMatching MONDO:0001292 autonomic nervous system disorder skos:exactMatch SCTID:128123007 semapv:UnspecifiedMatching MONDO:0001292 autonomic nervous system disorder skos:exactMatch SCTID:15241006 semapv:UnspecifiedMatching MONDO:0001292 autonomic nervous system disorder skos:exactMatch mesh:D001342 semapv:UnspecifiedMatching MONDO:0001293 subglottis cancer skos:exactMatch DOID:11472 subglottis cancer semapv:UnspecifiedMatching MONDO:0001293 subglottis cancer skos:exactMatch ICD10CM:C32.2 Malignant neoplasm of subglottis semapv:UnspecifiedMatching MONDO:0001293 subglottis cancer skos:exactMatch NCIT:C3546 Malignant Subglottis Neoplasm semapv:UnspecifiedMatching MONDO:0001293 subglottis cancer skos:exactMatch SCTID:363430007 semapv:UnspecifiedMatching MONDO:0001293 subglottis cancer skos:exactMatch UMLS:C0153485 semapv:UnspecifiedMatching MONDO:0001294 Horner syndrome skos:exactMatch DOID:11486 Horner's syndrome semapv:UnspecifiedMatching MONDO:0001294 Horner syndrome skos:exactMatch NCIT:C28155 Horner Syndrome semapv:UnspecifiedMatching MONDO:0001294 Horner syndrome skos:exactMatch SCTID:192915005 semapv:UnspecifiedMatching MONDO:0001294 Horner syndrome skos:exactMatch mesh:D006732 semapv:UnspecifiedMatching MONDO:0001295 idiopathic peripheral autonomic neuropathy skos:exactMatch DOID:11488 idiopathic peripheral autonomic neuropathy semapv:UnspecifiedMatching MONDO:0001295 idiopathic peripheral autonomic neuropathy skos:exactMatch ICD10CM:G90.0 Idiopathic peripheral autonomic neuropathy semapv:UnspecifiedMatching MONDO:0001295 idiopathic peripheral autonomic neuropathy skos:exactMatch SCTID:86489003 semapv:UnspecifiedMatching MONDO:0001295 idiopathic peripheral autonomic neuropathy skos:exactMatch UMLS:C0154690 semapv:UnspecifiedMatching MONDO:0001296 acquired night blindness skos:exactMatch DOID:11491 acquired night blindness semapv:UnspecifiedMatching MONDO:0001296 acquired night blindness skos:exactMatch ICD10CM:H53.62 Acquired night blindness semapv:UnspecifiedMatching MONDO:0001296 acquired night blindness skos:exactMatch SCTID:53808001 semapv:UnspecifiedMatching MONDO:0001297 cardiac tamponade skos:exactMatch DOID:115 cardiac tamponade semapv:UnspecifiedMatching MONDO:0001297 cardiac tamponade skos:exactMatch ICD10CM:I31.4 Cardiac tamponade semapv:UnspecifiedMatching MONDO:0001297 cardiac tamponade skos:exactMatch NCIT:C50481 Cardiac Tamponade semapv:UnspecifiedMatching MONDO:0001297 cardiac tamponade skos:exactMatch SCTID:35304003 semapv:UnspecifiedMatching MONDO:0001297 cardiac tamponade skos:exactMatch UMLS:C0007177 semapv:UnspecifiedMatching MONDO:0001297 cardiac tamponade skos:exactMatch mesh:D002305 semapv:UnspecifiedMatching MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch DOID:11502 mitral valve insufficiency semapv:UnspecifiedMatching MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch NCIT:C50888 Mitral Valve Insufficiency semapv:UnspecifiedMatching MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch SCTID:29928006 semapv:UnspecifiedMatching MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch UMLS:C0158619 semapv:UnspecifiedMatching MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch mesh:D008944 semapv:UnspecifiedMatching MONDO:0001299 diabetic autonomic neuropathy skos:exactMatch DOID:11503 diabetic autonomic neuropathy semapv:UnspecifiedMatching MONDO:0001299 diabetic autonomic neuropathy skos:exactMatch NCIT:C27068 Diabetic Autonomic Neuropathy semapv:UnspecifiedMatching MONDO:0001299 diabetic autonomic neuropathy skos:exactMatch SCTID:50620007 semapv:UnspecifiedMatching MONDO:0001299 diabetic autonomic neuropathy skos:exactMatch UMLS:C0271686 semapv:UnspecifiedMatching MONDO:0001300 autonomic neuropathy skos:exactMatch DOID:0060054 autonomic peripheral neuropathy semapv:UnspecifiedMatching MONDO:0001300 autonomic neuropathy skos:exactMatch DOID:11504 autonomic neuropathy semapv:UnspecifiedMatching MONDO:0001300 autonomic neuropathy skos:exactMatch NCIT:C27033 Autonomic Neuropathy semapv:UnspecifiedMatching MONDO:0001300 autonomic neuropathy skos:exactMatch SCTID:277879009 semapv:UnspecifiedMatching MONDO:0001300 autonomic neuropathy skos:exactMatch UMLS:C0259749 semapv:UnspecifiedMatching MONDO:0001301 rumination disorder skos:exactMatch DOID:11507 rumination disorder semapv:UnspecifiedMatching MONDO:0001301 rumination disorder skos:exactMatch NCIT:C92567 Rumination Disorder semapv:UnspecifiedMatching MONDO:0001301 rumination disorder skos:exactMatch SCTID:192014006 semapv:UnspecifiedMatching MONDO:0001301 rumination disorder skos:exactMatch mesh:D019959 semapv:UnspecifiedMatching MONDO:0001302 hypertensive heart disease skos:exactMatch DOID:11516 hypertensive heart disease semapv:UnspecifiedMatching MONDO:0001302 hypertensive heart disease skos:exactMatch NCIT:C4907 Hypertensive Cardiomegaly semapv:UnspecifiedMatching MONDO:0001302 hypertensive heart disease skos:exactMatch SCTID:64715009 semapv:UnspecifiedMatching MONDO:0001302 hypertensive heart disease skos:exactMatch UMLS:C0152105 semapv:UnspecifiedMatching MONDO:0001303 abnormal pupillary function skos:exactMatch DOID:11518 abnormal pupillary function semapv:UnspecifiedMatching MONDO:0001303 abnormal pupillary function skos:exactMatch SCTID:72124005 semapv:UnspecifiedMatching MONDO:0001304 benign hypertensive renal disease skos:exactMatch DOID:11520 benign hypertensive renal disease semapv:UnspecifiedMatching MONDO:0001304 benign hypertensive renal disease skos:exactMatch SCTID:193003 semapv:UnspecifiedMatching MONDO:0001304 benign hypertensive renal disease skos:exactMatch UMLS:C0155596 semapv:UnspecifiedMatching MONDO:0001305 laryngostenosis skos:exactMatch DOID:11527 laryngostenosis semapv:UnspecifiedMatching MONDO:0001305 laryngostenosis skos:exactMatch ICD10CM:J38.6 Stenosis of larynx semapv:UnspecifiedMatching MONDO:0001305 laryngostenosis skos:exactMatch SCTID:75547007 semapv:UnspecifiedMatching MONDO:0001305 laryngostenosis skos:exactMatch UMLS:C0023075 semapv:UnspecifiedMatching MONDO:0001305 laryngostenosis skos:exactMatch mesh:D007829 semapv:UnspecifiedMatching MONDO:0001306 obsolete recurrent corneal erosion skos:exactMatch DOID:11541 recurrent corneal erosion semapv:UnspecifiedMatching MONDO:0001306 obsolete recurrent corneal erosion skos:exactMatch SCTID:2055003 semapv:UnspecifiedMatching MONDO:0001306 obsolete recurrent corneal erosion skos:exactMatch UMLS:C0155119 semapv:UnspecifiedMatching MONDO:0001307 corneal abscess skos:exactMatch DOID:11543 corneal abscess semapv:UnspecifiedMatching MONDO:0001307 corneal abscess skos:exactMatch NCIT:C26969 Corneal Abscess semapv:UnspecifiedMatching MONDO:0001307 corneal abscess skos:exactMatch SCTID:64366002 semapv:UnspecifiedMatching MONDO:0001307 corneal abscess skos:exactMatch UMLS:C0155091 semapv:UnspecifiedMatching MONDO:0001308 corneal deposit skos:exactMatch DOID:11547 corneal deposit semapv:UnspecifiedMatching MONDO:0001308 corneal deposit skos:exactMatch ICD10CM:H18.0 Corneal pigmentations and deposits semapv:UnspecifiedMatching MONDO:0001308 corneal deposit skos:exactMatch SCTID:74460005 semapv:UnspecifiedMatching MONDO:0001308 corneal deposit skos:exactMatch UMLS:C0162281 semapv:UnspecifiedMatching MONDO:0001309 oculomotor nerve paralysis skos:exactMatch DOID:11550 oculomotor nerve paralysis semapv:UnspecifiedMatching MONDO:0001309 oculomotor nerve paralysis skos:exactMatch NCIT:C27597 Cranial Nerve III Palsy semapv:UnspecifiedMatching MONDO:0001309 oculomotor nerve paralysis skos:exactMatch Orphanet:98685 Rare oculomotor nerve disorder semapv:UnspecifiedMatching MONDO:0001309 oculomotor nerve paralysis skos:exactMatch SCTID:388980004 semapv:UnspecifiedMatching MONDO:0001309 oculomotor nerve paralysis skos:exactMatch UMLS:C0028866 semapv:UnspecifiedMatching MONDO:0001310 Bowman's membrane folds or rupture skos:exactMatch DOID:11552 Bowman's membrane folds or rupture semapv:UnspecifiedMatching MONDO:0001310 Bowman's membrane folds or rupture skos:exactMatch SCTID:45382000 semapv:UnspecifiedMatching MONDO:0001310 Bowman's membrane folds or rupture skos:exactMatch UMLS:C0155115 semapv:UnspecifiedMatching MONDO:0001312 acute serous otitis media skos:exactMatch DOID:11557 acute serous otitis media semapv:UnspecifiedMatching MONDO:0001312 acute serous otitis media skos:exactMatch ICD10CM:H65.0 Acute serous otitis media semapv:UnspecifiedMatching MONDO:0001312 acute serous otitis media skos:exactMatch SCTID:194240006 semapv:UnspecifiedMatching MONDO:0001312 acute serous otitis media skos:exactMatch UMLS:C0155415 semapv:UnspecifiedMatching MONDO:0001313 acute allergic serous otitis media skos:exactMatch DOID:11558 acute allergic serous otitis media semapv:UnspecifiedMatching MONDO:0001313 acute allergic serous otitis media skos:exactMatch SCTID:59275002 semapv:UnspecifiedMatching MONDO:0001313 acute allergic serous otitis media skos:exactMatch UMLS:C0155418 semapv:UnspecifiedMatching MONDO:0001314 chondrocalcinosis skos:exactMatch DOID:1156 chondrocalcinosis semapv:UnspecifiedMatching MONDO:0001314 chondrocalcinosis skos:exactMatch NCIT:C34955 Pseudogout semapv:UnspecifiedMatching MONDO:0001314 chondrocalcinosis skos:exactMatch SCTID:239832006 semapv:UnspecifiedMatching MONDO:0001314 chondrocalcinosis skos:exactMatch mesh:D002805 semapv:UnspecifiedMatching MONDO:0001315 neurocirculatory asthenia skos:exactMatch DOID:11569 neurocirculatory asthenia semapv:UnspecifiedMatching MONDO:0001315 neurocirculatory asthenia skos:exactMatch SCTID:191962000 semapv:UnspecifiedMatching MONDO:0001315 neurocirculatory asthenia skos:exactMatch mesh:D009449 semapv:UnspecifiedMatching MONDO:0001316 streptococcal meningitis skos:exactMatch DOID:11574 streptococcal meningitis semapv:UnspecifiedMatching MONDO:0001316 streptococcal meningitis skos:exactMatch ICD10CM:G00.2 Streptococcal meningitis semapv:UnspecifiedMatching MONDO:0001316 streptococcal meningitis skos:exactMatch SCTID:4510004 semapv:UnspecifiedMatching MONDO:0001316 streptococcal meningitis skos:exactMatch UMLS:C0154639 semapv:UnspecifiedMatching MONDO:0001317 phlyctenulosis skos:exactMatch DOID:11581 phlyctenulosis semapv:UnspecifiedMatching MONDO:0001317 phlyctenulosis skos:exactMatch SCTID:67895005 semapv:UnspecifiedMatching MONDO:0001317 phlyctenulosis skos:exactMatch UMLS:C0155080 semapv:UnspecifiedMatching MONDO:0001318 functional gastric disease skos:exactMatch DOID:1159 functional gastric disease semapv:UnspecifiedMatching MONDO:0001318 functional gastric disease skos:exactMatch SCTID:150541000119104 semapv:UnspecifiedMatching MONDO:0001318 functional gastric disease skos:exactMatch SCTID:386211005 semapv:UnspecifiedMatching MONDO:0001319 bladder lateral wall cancer skos:exactMatch DOID:11593 bladder lateral wall cancer semapv:UnspecifiedMatching MONDO:0001319 bladder lateral wall cancer skos:exactMatch SCTID:188241004 semapv:UnspecifiedMatching MONDO:0001319 bladder lateral wall cancer skos:exactMatch UMLS:C0496828 semapv:UnspecifiedMatching MONDO:0001320 ring staphyloma skos:exactMatch DOID:11594 ring staphyloma semapv:UnspecifiedMatching MONDO:0001320 ring staphyloma skos:exactMatch SCTID:5299007 semapv:UnspecifiedMatching MONDO:0001320 ring staphyloma skos:exactMatch UMLS:C0155363 semapv:UnspecifiedMatching MONDO:0001321 obsolete scleral staphyloma skos:exactMatch DOID:11595 scleral staphyloma semapv:UnspecifiedMatching MONDO:0001321 obsolete scleral staphyloma skos:exactMatch SCTID:111534007 semapv:UnspecifiedMatching MONDO:0001321 obsolete scleral staphyloma skos:exactMatch UMLS:C0155359 semapv:UnspecifiedMatching MONDO:0001322 pericardium cancer skos:exactMatch DOID:116 pericardium cancer semapv:UnspecifiedMatching MONDO:0001322 pericardium cancer skos:exactMatch NCIT:C4567 Malignant Pericardial Neoplasm semapv:UnspecifiedMatching MONDO:0001322 pericardium cancer skos:exactMatch UMLS:C0346609 semapv:UnspecifiedMatching MONDO:0001323 infant gynecomastia skos:exactMatch DOID:11603 infant gynecomastia semapv:UnspecifiedMatching MONDO:0001323 infant gynecomastia skos:exactMatch ICD10CM:P83.4 Breast engorgement of newborn semapv:UnspecifiedMatching MONDO:0001323 infant gynecomastia skos:exactMatch SCTID:34831003 semapv:UnspecifiedMatching MONDO:0001323 infant gynecomastia skos:exactMatch UMLS:C1449721 semapv:UnspecifiedMatching MONDO:0001324 obsolete hyperandrogenism skos:exactMatch DOID:11613 hyperandrogenism semapv:UnspecifiedMatching MONDO:0001324 obsolete hyperandrogenism skos:exactMatch SCTID:237793004 semapv:UnspecifiedMatching MONDO:0001324 obsolete hyperandrogenism skos:exactMatch UMLS:C0206081 semapv:UnspecifiedMatching MONDO:0001324 obsolete hyperandrogenism skos:exactMatch mesh:D017588 semapv:UnspecifiedMatching MONDO:0001325 penile cancer skos:exactMatch DOID:11615 penile cancer semapv:UnspecifiedMatching MONDO:0001325 penile cancer skos:exactMatch NCIT:C7547 Malignant Penile Neoplasm semapv:UnspecifiedMatching MONDO:0001325 penile cancer skos:exactMatch Orphanet:398043 Malignant tumor of penis semapv:UnspecifiedMatching MONDO:0001325 penile cancer skos:exactMatch SCTID:363516004 semapv:UnspecifiedMatching MONDO:0001325 penile cancer skos:exactMatch UMLS:C0153601 semapv:UnspecifiedMatching MONDO:0001326 dental pulp necrosis skos:exactMatch DOID:11623 dental pulp necrosis semapv:UnspecifiedMatching MONDO:0001326 dental pulp necrosis skos:exactMatch ICD10CM:K04.1 Necrosis of pulp semapv:UnspecifiedMatching MONDO:0001326 dental pulp necrosis skos:exactMatch SCTID:42711005 semapv:UnspecifiedMatching MONDO:0001326 dental pulp necrosis skos:exactMatch UMLS:C0011407 semapv:UnspecifiedMatching MONDO:0001326 dental pulp necrosis skos:exactMatch mesh:D003790 semapv:UnspecifiedMatching MONDO:0001327 pelvic muscle wasting skos:exactMatch DOID:11629 pelvic muscle wasting semapv:UnspecifiedMatching MONDO:0001327 pelvic muscle wasting skos:exactMatch ICD10CM:N81.84 Pelvic muscle wasting semapv:UnspecifiedMatching MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch DOID:11633 thyroid hormone resistance syndrome semapv:UnspecifiedMatching MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch SCTID:111567006 semapv:UnspecifiedMatching MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch UMLS:C2940786 semapv:UnspecifiedMatching MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch mesh:D018382 semapv:UnspecifiedMatching MONDO:0001329 accommodative spasm skos:exactMatch DOID:11637 accommodative spasm semapv:UnspecifiedMatching MONDO:0001329 accommodative spasm skos:exactMatch SCTID:30069002 semapv:UnspecifiedMatching MONDO:0001329 accommodative spasm skos:exactMatch UMLS:C0152196 semapv:UnspecifiedMatching MONDO:0001330 presbyopia skos:exactMatch DOID:11638 presbyopia semapv:UnspecifiedMatching MONDO:0001330 presbyopia skos:exactMatch ICD10CM:H52.4 Presbyopia semapv:UnspecifiedMatching MONDO:0001330 presbyopia skos:exactMatch SCTID:41256004 semapv:UnspecifiedMatching MONDO:0001330 presbyopia skos:exactMatch UMLS:C0033075 semapv:UnspecifiedMatching MONDO:0001330 presbyopia skos:exactMatch mesh:D011305 semapv:UnspecifiedMatching MONDO:0001331 conjunctival deposit skos:exactMatch DOID:11653 conjunctival deposit semapv:UnspecifiedMatching MONDO:0001331 conjunctival deposit skos:exactMatch SCTID:62660000 semapv:UnspecifiedMatching MONDO:0001331 conjunctival deposit skos:exactMatch UMLS:C0162280 semapv:UnspecifiedMatching MONDO:0001332 palindromic rheumatism skos:exactMatch DOID:1166 palindromic rheumatism semapv:UnspecifiedMatching MONDO:0001332 palindromic rheumatism skos:exactMatch ICD10CM:M12.3 Palindromic rheumatism semapv:UnspecifiedMatching MONDO:0001332 palindromic rheumatism skos:exactMatch SCTID:50442003 semapv:UnspecifiedMatching MONDO:0001332 palindromic rheumatism skos:exactMatch UMLS:C0085574 semapv:UnspecifiedMatching MONDO:0001332 palindromic rheumatism skos:exactMatch mesh:C538103 semapv:UnspecifiedMatching MONDO:0001334 hypertrichosis of eyelid skos:exactMatch DOID:11669 hypertrichosis of eyelid semapv:UnspecifiedMatching MONDO:0001334 hypertrichosis of eyelid skos:exactMatch SCTID:79830009 semapv:UnspecifiedMatching MONDO:0001334 hypertrichosis of eyelid skos:exactMatch UMLS:C0155213 semapv:UnspecifiedMatching MONDO:0001335 hypotrichosis of eyelid skos:exactMatch DOID:11671 hypotrichosis of eyelid semapv:UnspecifiedMatching MONDO:0001335 hypotrichosis of eyelid skos:exactMatch SCTID:70738004 semapv:UnspecifiedMatching MONDO:0001335 hypotrichosis of eyelid skos:exactMatch UMLS:C0155214 semapv:UnspecifiedMatching MONDO:0001336 familial hyperlipidemia skos:exactMatch DOID:1168 familial hyperlipidemia semapv:UnspecifiedMatching MONDO:0001337 inflamed seborrheic keratosis skos:exactMatch DOID:11685 inflamed seborrheic keratosis semapv:UnspecifiedMatching MONDO:0001337 inflamed seborrheic keratosis skos:exactMatch ICD10CM:L82.0 Inflamed seborrheic keratosis semapv:UnspecifiedMatching MONDO:0001337 inflamed seborrheic keratosis skos:exactMatch SCTID:442348004 semapv:UnspecifiedMatching MONDO:0001337 inflamed seborrheic keratosis skos:exactMatch UMLS:C0376117 semapv:UnspecifiedMatching MONDO:0001338 acute apical periodontitis skos:exactMatch DOID:11693 acute apical periodontitis semapv:UnspecifiedMatching MONDO:0001338 acute apical periodontitis skos:exactMatch ICD10CM:K04.4 Acute apical periodontitis of pulpal origin semapv:UnspecifiedMatching MONDO:0001338 acute apical periodontitis skos:exactMatch SCTID:718053009 semapv:UnspecifiedMatching MONDO:0001338 acute apical periodontitis skos:exactMatch UMLS:C4084770 semapv:UnspecifiedMatching MONDO:0001339 portal vein thrombosis skos:exactMatch DOID:11695 portal vein thrombosis semapv:UnspecifiedMatching MONDO:0001339 portal vein thrombosis skos:exactMatch ICD10CM:I81 Portal vein thrombosis semapv:UnspecifiedMatching MONDO:0001339 portal vein thrombosis skos:exactMatch NCIT:C78565 Portal Vein Thrombosis semapv:UnspecifiedMatching MONDO:0001339 portal vein thrombosis skos:exactMatch SCTID:17920008 semapv:UnspecifiedMatching MONDO:0001339 portal vein thrombosis skos:exactMatch UMLS:C0155773 semapv:UnspecifiedMatching MONDO:0001340 heart cancer skos:exactMatch DOID:117 heart cancer semapv:UnspecifiedMatching MONDO:0001340 heart cancer skos:exactMatch NCIT:C3548 Malignant Cardiac Neoplasm semapv:UnspecifiedMatching MONDO:0001340 heart cancer skos:exactMatch mesh:D006338 semapv:UnspecifiedMatching MONDO:0001341 selective IgA deficiency disease skos:exactMatch DOID:0060025 immunoglobulin alpha deficiency semapv:UnspecifiedMatching MONDO:0001341 selective IgA deficiency disease skos:exactMatch DOID:11701 selective IgA deficiency disease semapv:UnspecifiedMatching MONDO:0001341 selective IgA deficiency disease skos:exactMatch NCIT:C26964 Selective IgA Immunodeficiency semapv:UnspecifiedMatching MONDO:0001341 selective IgA deficiency disease skos:exactMatch SCTID:29260007 semapv:UnspecifiedMatching MONDO:0001341 selective IgA deficiency disease skos:exactMatch UMLS:C0162538 semapv:UnspecifiedMatching MONDO:0001341 selective IgA deficiency disease skos:exactMatch UMLS:C4049006 semapv:UnspecifiedMatching MONDO:0001341 selective IgA deficiency disease skos:exactMatch mesh:D017098 semapv:UnspecifiedMatching MONDO:0001342 dysgammaglobulinemia skos:exactMatch DOID:11702 dysgammaglobulinemia semapv:UnspecifiedMatching MONDO:0001342 dysgammaglobulinemia skos:exactMatch SCTID:123782009 semapv:UnspecifiedMatching MONDO:0001342 dysgammaglobulinemia skos:exactMatch UMLS:C0013374 semapv:UnspecifiedMatching MONDO:0001342 dysgammaglobulinemia skos:exactMatch mesh:D004406 semapv:UnspecifiedMatching MONDO:0001343 impaired renal function disease skos:exactMatch ICD10CM:N25 Disorders resulting from impaired renal tubular function semapv:UnspecifiedMatching MONDO:0001343 impaired renal function disease skos:exactMatch SCTID:197663003 semapv:UnspecifiedMatching MONDO:0001345 antidepressant type abuse skos:exactMatch DOID:11718 antidepressant type abuse semapv:UnspecifiedMatching MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch DOID:11727 facioscapulohumeral muscular dystrophy semapv:UnspecifiedMatching MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch NCIT:C84704 Facioscapulohumeral Muscular Dystrophy semapv:UnspecifiedMatching MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch OMIMPS:158900 semapv:UnspecifiedMatching MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:UnspecifiedMatching MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch SCTID:399091004 semapv:UnspecifiedMatching MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch mesh:D020391 semapv:UnspecifiedMatching MONDO:0001349 odontoclasia skos:exactMatch DOID:11736 odontoclasia semapv:UnspecifiedMatching MONDO:0001349 odontoclasia skos:exactMatch SCTID:196305005 semapv:UnspecifiedMatching MONDO:0001349 odontoclasia skos:exactMatch UMLS:C0341004 semapv:UnspecifiedMatching MONDO:0001350 parametrium malignant neoplasm skos:exactMatch DOID:11746 parametrium malignant neoplasm semapv:UnspecifiedMatching MONDO:0001350 parametrium malignant neoplasm skos:exactMatch SCTID:448674007 semapv:UnspecifiedMatching MONDO:0001350 parametrium malignant neoplasm skos:exactMatch UMLS:C0153581 semapv:UnspecifiedMatching MONDO:0001351 uterine adnexa cancer skos:exactMatch DOID:11747 uterine adnexa cancer semapv:UnspecifiedMatching MONDO:0001352 round ligament malignant neoplasm skos:exactMatch DOID:11748 round ligament malignant neoplasm semapv:UnspecifiedMatching MONDO:0001352 round ligament malignant neoplasm skos:exactMatch SCTID:188204000 semapv:UnspecifiedMatching MONDO:0001352 round ligament malignant neoplasm skos:exactMatch UMLS:C0346867 semapv:UnspecifiedMatching MONDO:0001353 Bordetella parapertussis infectious disease skos:exactMatch DOID:11750 Bordetella parapertussis whooping cough semapv:UnspecifiedMatching MONDO:0001353 Bordetella parapertussis infectious disease skos:exactMatch ICD10CM:A37.1 Whooping cough due to Bordetella parapertussis semapv:UnspecifiedMatching MONDO:0001353 Bordetella parapertussis infectious disease skos:exactMatch SCTID:77116006 semapv:UnspecifiedMatching MONDO:0001353 Bordetella parapertussis infectious disease skos:exactMatch UMLS:C0275742 semapv:UnspecifiedMatching MONDO:0001355 ocular siderosis skos:exactMatch DOID:11754 siderosis of eye semapv:UnspecifiedMatching MONDO:0001355 ocular siderosis skos:exactMatch SCTID:25277000 semapv:UnspecifiedMatching MONDO:0001355 ocular siderosis skos:exactMatch UMLS:C0271001 semapv:UnspecifiedMatching MONDO:0001356 iron deficiency anemia skos:exactMatch DOID:11758 iron deficiency anemia semapv:UnspecifiedMatching MONDO:0001356 iron deficiency anemia skos:exactMatch NCIT:C84484 Iron-Deficiency Anemia semapv:UnspecifiedMatching MONDO:0001356 iron deficiency anemia skos:exactMatch SCTID:87522002 semapv:UnspecifiedMatching MONDO:0001356 iron deficiency anemia skos:exactMatch UMLS:C0162316 semapv:UnspecifiedMatching MONDO:0001356 iron deficiency anemia skos:exactMatch mesh:D018798 semapv:UnspecifiedMatching MONDO:0001357 hypochromic anemia skos:exactMatch DOID:11759 hypochromic anemia semapv:UnspecifiedMatching MONDO:0001357 hypochromic anemia skos:exactMatch NCIT:C34380 Hypochromic Anemia semapv:UnspecifiedMatching MONDO:0001357 hypochromic anemia skos:exactMatch SCTID:44452003 semapv:UnspecifiedMatching MONDO:0001357 hypochromic anemia skos:exactMatch UMLS:C0002884 semapv:UnspecifiedMatching MONDO:0001358 bronchial disorder skos:exactMatch DOID:1176 bronchial disease semapv:UnspecifiedMatching MONDO:0001358 bronchial disorder skos:exactMatch NCIT:C34439 Bronchospasm semapv:UnspecifiedMatching MONDO:0001358 bronchial disorder skos:exactMatch SCTID:41427001 semapv:UnspecifiedMatching MONDO:0001358 bronchial disorder skos:exactMatch UMLS:C0006261 semapv:UnspecifiedMatching MONDO:0001358 bronchial disorder skos:exactMatch mesh:D001982 semapv:UnspecifiedMatching MONDO:0001360 blind hypotensive eye skos:exactMatch DOID:11766 blind hypotensive eye semapv:UnspecifiedMatching MONDO:0001360 blind hypotensive eye skos:exactMatch SCTID:23360000 semapv:UnspecifiedMatching MONDO:0001360 blind hypotensive eye skos:exactMatch UMLS:C0154788 semapv:UnspecifiedMatching MONDO:0001361 spontaneous ocular nystagmus skos:exactMatch DOID:11771 spontaneous ocular nystagmus semapv:UnspecifiedMatching MONDO:0001361 spontaneous ocular nystagmus skos:exactMatch ICD10CM:H55.03 Visual deprivation nystagmus semapv:UnspecifiedMatching MONDO:0001361 spontaneous ocular nystagmus skos:exactMatch SCTID:45339001 semapv:UnspecifiedMatching MONDO:0001361 spontaneous ocular nystagmus skos:exactMatch UMLS:C0271384 semapv:UnspecifiedMatching MONDO:0001362 obsolete leukocoria skos:exactMatch DOID:11772 leukocoria semapv:UnspecifiedMatching MONDO:0001362 obsolete leukocoria skos:exactMatch SCTID:1361009 semapv:UnspecifiedMatching MONDO:0001362 obsolete leukocoria skos:exactMatch UMLS:C0152458 semapv:UnspecifiedMatching MONDO:0001363 blind hypertensive eye skos:exactMatch DOID:11776 absolute glaucoma semapv:UnspecifiedMatching MONDO:0001363 blind hypertensive eye skos:exactMatch SCTID:264008 semapv:UnspecifiedMatching MONDO:0001363 blind hypertensive eye skos:exactMatch UMLS:C0154789 semapv:UnspecifiedMatching MONDO:0001364 regular astigmatism skos:exactMatch DOID:11781 regular astigmatism semapv:UnspecifiedMatching MONDO:0001364 regular astigmatism skos:exactMatch SCTID:68905002 semapv:UnspecifiedMatching MONDO:0001364 regular astigmatism skos:exactMatch UMLS:C0152193 semapv:UnspecifiedMatching MONDO:0001365 necrosis of ear ossicle skos:exactMatch DOID:11783 necrosis of ear ossicle semapv:UnspecifiedMatching MONDO:0001366 splenic sequestration skos:exactMatch DOID:11786 splenic sequestration semapv:UnspecifiedMatching MONDO:0001367 chronic congestive splenomegaly skos:exactMatch DOID:11787 chronic congestive splenomegaly semapv:UnspecifiedMatching MONDO:0001367 chronic congestive splenomegaly skos:exactMatch ICD10CM:D73.2 Chronic congestive splenomegaly semapv:UnspecifiedMatching MONDO:0001367 chronic congestive splenomegaly skos:exactMatch SCTID:191382009 semapv:UnspecifiedMatching MONDO:0001367 chronic congestive splenomegaly skos:exactMatch UMLS:C0398661 semapv:UnspecifiedMatching MONDO:0001368 phthisical cornea skos:exactMatch DOID:11793 phthisical cornea semapv:UnspecifiedMatching MONDO:0001368 phthisical cornea skos:exactMatch SCTID:28143002 semapv:UnspecifiedMatching MONDO:0001368 phthisical cornea skos:exactMatch UMLS:C0155102 semapv:UnspecifiedMatching MONDO:0001369 chronic laryngitis skos:exactMatch DOID:11797 chronic laryngitis semapv:UnspecifiedMatching MONDO:0001369 chronic laryngitis skos:exactMatch ICD10CM:J37.0 Chronic laryngitis semapv:UnspecifiedMatching MONDO:0001369 chronic laryngitis skos:exactMatch NCIT:C26975 Chronic Laryngitis semapv:UnspecifiedMatching MONDO:0001369 chronic laryngitis skos:exactMatch SCTID:29951006 semapv:UnspecifiedMatching MONDO:0001369 chronic laryngitis skos:exactMatch UMLS:C0155836 semapv:UnspecifiedMatching MONDO:0001370 pericardial effusion skos:exactMatch DOID:118 pericardial effusion semapv:UnspecifiedMatching MONDO:0001370 pericardial effusion skos:exactMatch NCIT:C3319 Pericardial Effusion semapv:UnspecifiedMatching MONDO:0001370 pericardial effusion skos:exactMatch SCTID:373945007 semapv:UnspecifiedMatching MONDO:0001370 pericardial effusion skos:exactMatch UMLS:C0031039 semapv:UnspecifiedMatching MONDO:0001370 pericardial effusion skos:exactMatch mesh:D010490 semapv:UnspecifiedMatching MONDO:0001371 protein-energy malnutrition skos:exactMatch DOID:11801 protein-energy malnutrition semapv:UnspecifiedMatching MONDO:0001371 protein-energy malnutrition skos:exactMatch NCIT:C34952 Protein Energy Malnutrition semapv:UnspecifiedMatching MONDO:0001371 protein-energy malnutrition skos:exactMatch SCTID:238107002 semapv:UnspecifiedMatching MONDO:0001371 protein-energy malnutrition skos:exactMatch mesh:D011502 semapv:UnspecifiedMatching MONDO:0001372 bladder neck cancer skos:exactMatch DOID:11809 bladder neck cancer semapv:UnspecifiedMatching MONDO:0001372 bladder neck cancer skos:exactMatch SCTID:188244007 semapv:UnspecifiedMatching MONDO:0001373 urinary bladder posterior wall cancer skos:exactMatch DOID:11811 urinary bladder posterior wall cancer semapv:UnspecifiedMatching MONDO:0001373 urinary bladder posterior wall cancer skos:exactMatch SCTID:188243001 semapv:UnspecifiedMatching MONDO:0001373 urinary bladder posterior wall cancer skos:exactMatch UMLS:C0153612 semapv:UnspecifiedMatching MONDO:0001374 bladder sarcoma skos:exactMatch DOID:11812 bladder sarcoma semapv:UnspecifiedMatching MONDO:0001374 bladder sarcoma skos:exactMatch NCIT:C4669 Bladder Sarcoma semapv:UnspecifiedMatching MONDO:0001374 bladder sarcoma skos:exactMatch SCTID:278046008 semapv:UnspecifiedMatching MONDO:0001374 bladder sarcoma skos:exactMatch UMLS:C0349666 semapv:UnspecifiedMatching MONDO:0001375 bladder trigone cancer skos:exactMatch DOID:11813 bladder trigone cancer semapv:UnspecifiedMatching MONDO:0001375 bladder trigone cancer skos:exactMatch SCTID:188239000 semapv:UnspecifiedMatching MONDO:0001375 bladder trigone cancer skos:exactMatch UMLS:C0496826 semapv:UnspecifiedMatching MONDO:0001376 urinary bladder anterior wall cancer skos:exactMatch DOID:11814 urinary bladder anterior wall cancer semapv:UnspecifiedMatching MONDO:0001376 urinary bladder anterior wall cancer skos:exactMatch SCTID:188242006 semapv:UnspecifiedMatching MONDO:0001376 urinary bladder anterior wall cancer skos:exactMatch UMLS:C0153611 semapv:UnspecifiedMatching MONDO:0001377 vitreous syneresis skos:exactMatch DOID:11816 vitreous syneresis semapv:UnspecifiedMatching MONDO:0001377 vitreous syneresis skos:exactMatch SCTID:60189009 semapv:UnspecifiedMatching MONDO:0001377 vitreous syneresis skos:exactMatch UMLS:C0155366 semapv:UnspecifiedMatching MONDO:0001378 urachus cancer skos:exactMatch DOID:11817 urachus cancer semapv:UnspecifiedMatching MONDO:0001378 urachus cancer skos:exactMatch SCTID:363456000 semapv:UnspecifiedMatching MONDO:0001378 urachus cancer skos:exactMatch UMLS:C0153615 semapv:UnspecifiedMatching MONDO:0001379 ureteric orifice cancer skos:exactMatch DOID:11818 ureteric orifice cancer semapv:UnspecifiedMatching MONDO:0001379 ureteric orifice cancer skos:exactMatch SCTID:188245008 semapv:UnspecifiedMatching MONDO:0001379 ureteric orifice cancer skos:exactMatch UMLS:C0153614 semapv:UnspecifiedMatching MONDO:0001380 bladder dome cancer skos:exactMatch DOID:11820 bladder dome cancer semapv:UnspecifiedMatching MONDO:0001380 bladder dome cancer skos:exactMatch SCTID:188240003 semapv:UnspecifiedMatching MONDO:0001380 bladder dome cancer skos:exactMatch UMLS:C0496827 semapv:UnspecifiedMatching MONDO:0001381 bladder lymphoma skos:exactMatch DOID:11821 bladder lymphoma semapv:UnspecifiedMatching MONDO:0001381 bladder lymphoma skos:exactMatch NCIT:C6164 Bladder Lymphoma semapv:UnspecifiedMatching MONDO:0001381 bladder lymphoma skos:exactMatch UMLS:C1332561 semapv:UnspecifiedMatching MONDO:0001382 hepatorenal syndrome skos:exactMatch DOID:11823 hepatorenal syndrome semapv:UnspecifiedMatching MONDO:0001382 hepatorenal syndrome skos:exactMatch ICD10CM:K76.7 Hepatorenal syndrome semapv:UnspecifiedMatching MONDO:0001382 hepatorenal syndrome skos:exactMatch NCIT:C113400 Hepatorenal Syndrome semapv:UnspecifiedMatching MONDO:0001382 hepatorenal syndrome skos:exactMatch SCTID:51292008 semapv:UnspecifiedMatching MONDO:0001382 hepatorenal syndrome skos:exactMatch UMLS:C0019212 semapv:UnspecifiedMatching MONDO:0001382 hepatorenal syndrome skos:exactMatch mesh:D006530 semapv:UnspecifiedMatching MONDO:0001383 degenerative myopia skos:exactMatch DOID:11829 degenerative myopia semapv:UnspecifiedMatching MONDO:0001383 degenerative myopia skos:exactMatch ICD10CM:H44.2 Degenerative myopia semapv:UnspecifiedMatching MONDO:0001383 degenerative myopia skos:exactMatch SCTID:32022003 semapv:UnspecifiedMatching MONDO:0001383 degenerative myopia skos:exactMatch UMLS:C0154778 semapv:UnspecifiedMatching MONDO:0001383 degenerative myopia skos:exactMatch mesh:D047728 semapv:UnspecifiedMatching MONDO:0001384 myopia skos:exactMatch DOID:11830 myopia semapv:UnspecifiedMatching MONDO:0001384 myopia skos:exactMatch ICD10CM:H52.1 Myopia semapv:UnspecifiedMatching MONDO:0001384 myopia skos:exactMatch OMIMPS:160700 semapv:UnspecifiedMatching MONDO:0001384 myopia skos:exactMatch SCTID:57190000 semapv:UnspecifiedMatching MONDO:0001384 myopia skos:exactMatch UMLS:C0027092 semapv:UnspecifiedMatching MONDO:0001384 myopia skos:exactMatch mesh:D009216 semapv:UnspecifiedMatching MONDO:0001385 cortical blindness skos:exactMatch DOID:11831 cortical blindness semapv:UnspecifiedMatching MONDO:0001385 cortical blindness skos:exactMatch NCIT:C118707 Cortical Blindness semapv:UnspecifiedMatching MONDO:0001385 cortical blindness skos:exactMatch SCTID:68574006 semapv:UnspecifiedMatching MONDO:0001385 cortical blindness skos:exactMatch UMLS:C0155320 semapv:UnspecifiedMatching MONDO:0001385 cortical blindness skos:exactMatch mesh:D019575 semapv:UnspecifiedMatching MONDO:0001386 visual epilepsy skos:exactMatch DOID:11832 visual epilepsy semapv:UnspecifiedMatching MONDO:0001386 visual epilepsy skos:exactMatch NCIT:C3980 Visual Epilepsy semapv:UnspecifiedMatching MONDO:0001386 visual epilepsy skos:exactMatch SCTID:39194005 semapv:UnspecifiedMatching MONDO:0001386 visual epilepsy skos:exactMatch UMLS:C0270824 semapv:UnspecifiedMatching MONDO:0001386 visual epilepsy skos:exactMatch mesh:D012640 semapv:UnspecifiedMatching MONDO:0001387 penile sarcoma skos:exactMatch DOID:11838 penis sarcoma semapv:UnspecifiedMatching MONDO:0001387 penile sarcoma skos:exactMatch NCIT:C7730 Penile Sarcoma semapv:UnspecifiedMatching MONDO:0001387 penile sarcoma skos:exactMatch UMLS:C0238352 semapv:UnspecifiedMatching MONDO:0001388 glans penis cancer skos:exactMatch DOID:11839 glans penis cancer semapv:UnspecifiedMatching MONDO:0001388 glans penis cancer skos:exactMatch SCTID:363451005 semapv:UnspecifiedMatching MONDO:0001388 glans penis cancer skos:exactMatch UMLS:C0153599 semapv:UnspecifiedMatching MONDO:0001389 congenital coronary artery anomaly skos:exactMatch DOID:11843 coronary artery anomaly semapv:UnspecifiedMatching MONDO:0001389 congenital coronary artery anomaly skos:exactMatch SCTID:28574005 semapv:UnspecifiedMatching MONDO:0001390 transient refractive change skos:exactMatch DOID:11850 transient refractive change semapv:UnspecifiedMatching MONDO:0001390 transient refractive change skos:exactMatch SCTID:81519008 semapv:UnspecifiedMatching MONDO:0001390 transient refractive change skos:exactMatch UMLS:C0155000 semapv:UnspecifiedMatching MONDO:0001391 indeterminate leprosy skos:exactMatch DOID:11851 indeterminate leprosy semapv:UnspecifiedMatching MONDO:0001391 indeterminate leprosy skos:exactMatch ICD10CM:A30.0 Indeterminate leprosy semapv:UnspecifiedMatching MONDO:0001391 indeterminate leprosy skos:exactMatch SCTID:14386001 semapv:UnspecifiedMatching MONDO:0001391 indeterminate leprosy skos:exactMatch UMLS:C0021192 semapv:UnspecifiedMatching MONDO:0001392 monocular exotropia skos:exactMatch DOID:11853 monocular exotropia semapv:UnspecifiedMatching MONDO:0001392 monocular exotropia skos:exactMatch SCTID:5725006 semapv:UnspecifiedMatching MONDO:0001392 monocular exotropia skos:exactMatch UMLS:C0152206 semapv:UnspecifiedMatching MONDO:0001393 peripheral focal chorioretinitis skos:exactMatch DOID:11864 peripheral focal chorioretinitis semapv:UnspecifiedMatching MONDO:0001393 peripheral focal chorioretinitis skos:exactMatch SCTID:56787009 semapv:UnspecifiedMatching MONDO:0001393 peripheral focal chorioretinitis skos:exactMatch UMLS:C0339394 semapv:UnspecifiedMatching MONDO:0001395 macular keratitis skos:exactMatch DOID:11871 macular keratitis semapv:UnspecifiedMatching MONDO:0001395 macular keratitis skos:exactMatch SCTID:2853006 semapv:UnspecifiedMatching MONDO:0001395 macular keratitis skos:exactMatch UMLS:C0155076 semapv:UnspecifiedMatching MONDO:0001396 abnormal threshold of rods skos:exactMatch DOID:11874 abnormal threshold of rods semapv:UnspecifiedMatching MONDO:0001396 abnormal threshold of rods skos:exactMatch ICD10CM:H53.61 Abnormal dark adaptation curve semapv:UnspecifiedMatching MONDO:0001396 abnormal threshold of rods skos:exactMatch SCTID:50455002 semapv:UnspecifiedMatching MONDO:0001396 abnormal threshold of rods skos:exactMatch UMLS:C0155019 semapv:UnspecifiedMatching MONDO:0001397 mononeuropathy skos:exactMatch DOID:1188 mononeuropathy semapv:UnspecifiedMatching MONDO:0001397 mononeuropathy skos:exactMatch SCTID:128189008 semapv:UnspecifiedMatching MONDO:0001397 mononeuropathy skos:exactMatch UMLS:C0494491 semapv:UnspecifiedMatching MONDO:0001397 mononeuropathy skos:exactMatch mesh:D020422 semapv:UnspecifiedMatching MONDO:0001398 ureter benign neoplasm skos:exactMatch DOID:11885 ureteral benign neoplasm semapv:UnspecifiedMatching MONDO:0001398 ureter benign neoplasm skos:exactMatch NCIT:C3617 Benign Ureter Neoplasm semapv:UnspecifiedMatching MONDO:0001398 ureter benign neoplasm skos:exactMatch SCTID:92464009 semapv:UnspecifiedMatching MONDO:0001399 ureter leiomyoma skos:exactMatch DOID:11887 ureter leiomyoma semapv:UnspecifiedMatching MONDO:0001399 ureter leiomyoma skos:exactMatch NCIT:C6161 Ureter Leiomyoma semapv:UnspecifiedMatching MONDO:0001399 ureter leiomyoma skos:exactMatch UMLS:C1336875 semapv:UnspecifiedMatching MONDO:0001400 schwannoma of ureter skos:exactMatch DOID:11888 schwannoma of ureter semapv:UnspecifiedMatching MONDO:0001400 schwannoma of ureter skos:exactMatch NCIT:C6162 Ureter Schwannoma semapv:UnspecifiedMatching MONDO:0001400 schwannoma of ureter skos:exactMatch UMLS:C1336877 semapv:UnspecifiedMatching MONDO:0001401 female breast nipple and areola cancer skos:exactMatch DOID:11889 female breast nipple and areola cancer semapv:UnspecifiedMatching MONDO:0001401 female breast nipple and areola cancer skos:exactMatch SCTID:188147009 semapv:UnspecifiedMatching MONDO:0001401 female breast nipple and areola cancer skos:exactMatch UMLS:C0024621 semapv:UnspecifiedMatching MONDO:0001402 vaginal cancer skos:exactMatch DOID:119 vaginal cancer semapv:UnspecifiedMatching MONDO:0001402 vaginal cancer skos:exactMatch NCIT:C7410 Malignant Vaginal Neoplasm semapv:UnspecifiedMatching MONDO:0001402 vaginal cancer skos:exactMatch SCTID:363445000 semapv:UnspecifiedMatching MONDO:0001402 vaginal cancer skos:exactMatch mesh:D014625 semapv:UnspecifiedMatching MONDO:0001403 labium majus cancer skos:exactMatch DOID:11905 labium majus cancer semapv:UnspecifiedMatching MONDO:0001403 labium majus cancer skos:exactMatch NCIT:C7638 Malignant Labia Majora Neoplasm semapv:UnspecifiedMatching MONDO:0001403 labium majus cancer skos:exactMatch SCTID:363446004 semapv:UnspecifiedMatching MONDO:0001403 labium majus cancer skos:exactMatch UMLS:C0496814 semapv:UnspecifiedMatching MONDO:0001404 ecthyma skos:exactMatch DOID:11907 ecthyma semapv:UnspecifiedMatching MONDO:0001404 ecthyma skos:exactMatch SCTID:85791004 semapv:UnspecifiedMatching MONDO:0001404 ecthyma skos:exactMatch UMLS:C0013568 semapv:UnspecifiedMatching MONDO:0001404 ecthyma skos:exactMatch mesh:D004473 semapv:UnspecifiedMatching MONDO:0001405 dermatophytosis of groin and perianal area skos:exactMatch DOID:11917 tinea cruris semapv:UnspecifiedMatching MONDO:0001405 dermatophytosis of groin and perianal area skos:exactMatch NCIT:C34535 Dermatophytosis of Groin and Perianal Area semapv:UnspecifiedMatching MONDO:0001405 dermatophytosis of groin and perianal area skos:exactMatch SCTID:399029005 semapv:UnspecifiedMatching MONDO:0001405 dermatophytosis of groin and perianal area skos:exactMatch UMLS:C0011638 semapv:UnspecifiedMatching MONDO:0001406 peripheral nervous system neoplasm skos:exactMatch DOID:1192 peripheral nervous system neoplasm semapv:UnspecifiedMatching MONDO:0001406 peripheral nervous system neoplasm skos:exactMatch NCIT:C3321 Peripheral Nervous System Neoplasm semapv:UnspecifiedMatching MONDO:0001406 peripheral nervous system neoplasm skos:exactMatch SCTID:126980002 semapv:UnspecifiedMatching MONDO:0001406 peripheral nervous system neoplasm skos:exactMatch UMLS:C0031118 semapv:UnspecifiedMatching MONDO:0001406 peripheral nervous system neoplasm skos:exactMatch mesh:D010524 semapv:UnspecifiedMatching MONDO:0001407 tracheal cancer skos:exactMatch DOID:11920 tracheal cancer semapv:UnspecifiedMatching MONDO:0001407 tracheal cancer skos:exactMatch ICD10CM:C33 Malignant neoplasm of trachea semapv:UnspecifiedMatching MONDO:0001407 tracheal cancer skos:exactMatch NCIT:C9346 Malignant Tracheal Neoplasm semapv:UnspecifiedMatching MONDO:0001407 tracheal cancer skos:exactMatch SCTID:363432004 semapv:UnspecifiedMatching MONDO:0001407 tracheal cancer skos:exactMatch UMLS:C0153489 semapv:UnspecifiedMatching MONDO:0001408 ischemic neuropathy skos:exactMatch DOID:1195 ischemic neuropathy semapv:UnspecifiedMatching MONDO:0001408 ischemic neuropathy skos:exactMatch NCIT:C27025 Ischemic Neuropathy semapv:UnspecifiedMatching MONDO:0001408 ischemic neuropathy skos:exactMatch SCTID:129611009 semapv:UnspecifiedMatching MONDO:0001408 ischemic neuropathy skos:exactMatch UMLS:C0238309 semapv:UnspecifiedMatching MONDO:0001409 esophagitis skos:exactMatch DOID:11963 esophagitis semapv:UnspecifiedMatching MONDO:0001409 esophagitis skos:exactMatch NCIT:C9224 Esophagitis semapv:UnspecifiedMatching MONDO:0001409 esophagitis skos:exactMatch SCTID:16761005 semapv:UnspecifiedMatching MONDO:0001409 esophagitis skos:exactMatch UMLS:C0014868 semapv:UnspecifiedMatching MONDO:0001409 esophagitis skos:exactMatch mesh:D004941 semapv:UnspecifiedMatching MONDO:0001410 postmenopausal atrophic vaginitis skos:exactMatch DOID:11968 postmenopausal atrophic vaginitis semapv:UnspecifiedMatching MONDO:0001410 postmenopausal atrophic vaginitis skos:exactMatch ICD10CM:N95.2 Postmenopausal atrophic vaginitis semapv:UnspecifiedMatching MONDO:0001410 postmenopausal atrophic vaginitis skos:exactMatch SCTID:52441000 semapv:UnspecifiedMatching MONDO:0001410 postmenopausal atrophic vaginitis skos:exactMatch UMLS:C0156409 semapv:UnspecifiedMatching MONDO:0001410 postmenopausal atrophic vaginitis skos:exactMatch UMLS:C0221392 semapv:UnspecifiedMatching MONDO:0001410 postmenopausal atrophic vaginitis skos:exactMatch mesh:D059268 semapv:UnspecifiedMatching MONDO:0001411 synostosis skos:exactMatch DOID:11971 synostosis semapv:UnspecifiedMatching MONDO:0001411 synostosis skos:exactMatch mesh:D013580 semapv:UnspecifiedMatching MONDO:0001412 conjunctival concretion skos:exactMatch DOID:11988 conjunctival concretion semapv:UnspecifiedMatching MONDO:0001412 conjunctival concretion skos:exactMatch SCTID:13706005 semapv:UnspecifiedMatching MONDO:0001413 ulceroglandular tularemia skos:exactMatch DOID:11990 ulceroglandular tularemia semapv:UnspecifiedMatching MONDO:0001413 ulceroglandular tularemia skos:exactMatch ICD10CM:A21.0 Ulceroglandular tularemia semapv:UnspecifiedMatching MONDO:0001413 ulceroglandular tularemia skos:exactMatch SCTID:37722001 semapv:UnspecifiedMatching MONDO:0001413 ulceroglandular tularemia skos:exactMatch UMLS:C0152941 semapv:UnspecifiedMatching MONDO:0001414 osteopoikilosis skos:exactMatch DOID:11991 osteopoikilosis semapv:UnspecifiedMatching MONDO:0001414 osteopoikilosis skos:exactMatch NCIT:C84985 Osteopoikilosis semapv:UnspecifiedMatching MONDO:0001414 osteopoikilosis skos:exactMatch SCTID:9147009 semapv:UnspecifiedMatching MONDO:0001414 osteopoikilosis skos:exactMatch mesh:D010023 semapv:UnspecifiedMatching MONDO:0001415 atrophy of testis skos:exactMatch DOID:11994 atrophy of testis semapv:UnspecifiedMatching MONDO:0001415 atrophy of testis skos:exactMatch ICD10CM:N50.0 Atrophy of testis semapv:UnspecifiedMatching MONDO:0001415 atrophy of testis skos:exactMatch NCIT:C123259 Testicular Atrophy semapv:UnspecifiedMatching MONDO:0001415 atrophy of testis skos:exactMatch SCTID:17585008 semapv:UnspecifiedMatching MONDO:0001415 atrophy of testis skos:exactMatch UMLS:C0156312 semapv:UnspecifiedMatching MONDO:0001416 female reproductive organ cancer skos:exactMatch DOID:120 female reproductive organ cancer semapv:UnspecifiedMatching MONDO:0001416 female reproductive organ cancer skos:exactMatch ICD10CM:C51-C58 Malignant neoplasms of female genital organs (C51-C58) semapv:UnspecifiedMatching MONDO:0001416 female reproductive organ cancer skos:exactMatch NCIT:C4913 Malignant Female Reproductive System Neoplasm semapv:UnspecifiedMatching MONDO:0001416 female reproductive organ cancer skos:exactMatch SCTID:126907002 semapv:UnspecifiedMatching MONDO:0001417 tracheal lymphoma skos:exactMatch DOID:12001 tracheal lymphoma semapv:UnspecifiedMatching MONDO:0001417 tracheal lymphoma skos:exactMatch NCIT:C6248 Tracheal Lymphoma semapv:UnspecifiedMatching MONDO:0001417 tracheal lymphoma skos:exactMatch UMLS:C1336773 semapv:UnspecifiedMatching MONDO:0001418 trachea sarcoma skos:exactMatch DOID:12002 trachea sarcoma semapv:UnspecifiedMatching MONDO:0001418 trachea sarcoma skos:exactMatch NCIT:C6050 Tracheal Sarcoma semapv:UnspecifiedMatching MONDO:0001418 trachea sarcoma skos:exactMatch UMLS:C1336774 semapv:UnspecifiedMatching MONDO:0001419 trachea squamous cell carcinoma skos:exactMatch DOID:12003 trachea squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0001419 trachea squamous cell carcinoma skos:exactMatch NCIT:C4448 Tracheal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0001419 trachea squamous cell carcinoma skos:exactMatch SCTID:254620000 semapv:UnspecifiedMatching MONDO:0001419 trachea squamous cell carcinoma skos:exactMatch UMLS:C0345946 semapv:UnspecifiedMatching MONDO:0001420 trigeminal nerve neoplasm skos:exactMatch DOID:1201 trigeminal nerve neoplasm semapv:UnspecifiedMatching MONDO:0001420 trigeminal nerve neoplasm skos:exactMatch NCIT:C5122 Trigeminal Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0001420 trigeminal nerve neoplasm skos:exactMatch SCTID:126971002 semapv:UnspecifiedMatching MONDO:0001420 trigeminal nerve neoplasm skos:exactMatch UMLS:C1263897 semapv:UnspecifiedMatching MONDO:0001421 frontal lobe neoplasm skos:exactMatch DOID:12016 frontal lobe neoplasm semapv:UnspecifiedMatching MONDO:0001421 frontal lobe neoplasm skos:exactMatch NCIT:C5572 Frontal Lobe Neoplasm semapv:UnspecifiedMatching MONDO:0001421 frontal lobe neoplasm skos:exactMatch SCTID:126954003 semapv:UnspecifiedMatching MONDO:0001421 frontal lobe neoplasm skos:exactMatch UMLS:C1263886 semapv:UnspecifiedMatching MONDO:0001422 primary aldosteronism skos:exactMatch DOID:12028 Conn's syndrome semapv:UnspecifiedMatching MONDO:0001422 primary aldosteronism skos:exactMatch ICD10CM:E26.0 Primary hyperaldosteronism semapv:UnspecifiedMatching MONDO:0001422 primary aldosteronism skos:exactMatch NCIT:C34510 Conn Syndrome semapv:UnspecifiedMatching MONDO:0001422 primary aldosteronism skos:exactMatch SCTID:190507007 semapv:UnspecifiedMatching MONDO:0001423 drug-induced mental disorder skos:exactMatch DOID:1203 drug-induced mental disorder semapv:UnspecifiedMatching MONDO:0001424 obsolete sarcoid meningitis skos:exactMatch DOID:12055 sarcoid meningitis semapv:UnspecifiedMatching MONDO:0001424 obsolete sarcoid meningitis skos:exactMatch ICD10CM:D86.81 Sarcoid meningitis semapv:UnspecifiedMatching MONDO:0001424 obsolete sarcoid meningitis skos:exactMatch SCTID:192673008 semapv:UnspecifiedMatching MONDO:0001424 obsolete sarcoid meningitis skos:exactMatch UMLS:C0154648 semapv:UnspecifiedMatching MONDO:0001426 mediastinum neurofibroma skos:exactMatch DOID:12064 mediastinum neurofibroma semapv:UnspecifiedMatching MONDO:0001426 mediastinum neurofibroma skos:exactMatch NCIT:C6631 Mediastinal Neurofibroma semapv:UnspecifiedMatching MONDO:0001426 mediastinum neurofibroma skos:exactMatch UMLS:C1334674 semapv:UnspecifiedMatching MONDO:0001427 Dieulafoy lesion skos:exactMatch DOID:12070 Dieulafoy lesion semapv:UnspecifiedMatching MONDO:0001427 Dieulafoy lesion skos:exactMatch ICD10CM:K31.82 Dieulafoy lesion (hemorrhagic) of stomach and duodenum semapv:UnspecifiedMatching MONDO:0001427 Dieulafoy lesion skos:exactMatch SCTID:109558001 semapv:UnspecifiedMatching MONDO:0001427 Dieulafoy lesion skos:exactMatch UMLS:C0341217 semapv:UnspecifiedMatching MONDO:0001428 pylorospasm skos:exactMatch DOID:12072 pylorospasm semapv:UnspecifiedMatching MONDO:0001428 pylorospasm skos:exactMatch SCTID:335002 semapv:UnspecifiedMatching MONDO:0001428 pylorospasm skos:exactMatch UMLS:C0152163 semapv:UnspecifiedMatching MONDO:0001429 transient arthropathy skos:exactMatch DOID:12084 transient arthropathy semapv:UnspecifiedMatching MONDO:0001429 transient arthropathy skos:exactMatch NCIT:C35761 Transient Arthropathy semapv:UnspecifiedMatching MONDO:0001429 transient arthropathy skos:exactMatch SCTID:66191007 semapv:UnspecifiedMatching MONDO:0001429 transient arthropathy skos:exactMatch UMLS:C0152083 semapv:UnspecifiedMatching MONDO:0001430 deep corneal vascularisation skos:exactMatch DOID:12087 deep corneal vascularisation semapv:UnspecifiedMatching MONDO:0001430 deep corneal vascularisation skos:exactMatch SCTID:2102007 semapv:UnspecifiedMatching MONDO:0001430 deep corneal vascularisation skos:exactMatch UMLS:C0155095 semapv:UnspecifiedMatching MONDO:0001431 toxic or nutritional optic neuropathy skos:exactMatch DOID:1209 nutritional optic neuropathy semapv:UnspecifiedMatching MONDO:0001431 toxic or nutritional optic neuropathy skos:exactMatch ICD10CM:H46.2 Nutritional optic neuropathy semapv:UnspecifiedMatching MONDO:0001431 toxic or nutritional optic neuropathy skos:exactMatch SCTID:82108004 semapv:UnspecifiedMatching MONDO:0001431 toxic or nutritional optic neuropathy skos:exactMatch UMLS:C0155302 semapv:UnspecifiedMatching MONDO:0001433 vaginal disorder skos:exactMatch DOID:121 vaginal disease semapv:UnspecifiedMatching MONDO:0001433 vaginal disorder skos:exactMatch NCIT:C26910 Vaginal Disorder semapv:UnspecifiedMatching MONDO:0001433 vaginal disorder skos:exactMatch SCTID:25658005 semapv:UnspecifiedMatching MONDO:0001433 vaginal disorder skos:exactMatch UMLS:C0042251 semapv:UnspecifiedMatching MONDO:0001433 vaginal disorder skos:exactMatch mesh:D014623 semapv:UnspecifiedMatching MONDO:0001434 inflammatory spondylopathy skos:exactMatch DOID:12105 inflammatory spondylopathy semapv:UnspecifiedMatching MONDO:0001434 inflammatory spondylopathy skos:exactMatch SCTID:202649003 semapv:UnspecifiedMatching MONDO:0001435 bullous retinoschisis skos:exactMatch DOID:12108 bullous retinoschisis semapv:UnspecifiedMatching MONDO:0001435 bullous retinoschisis skos:exactMatch SCTID:65545003 semapv:UnspecifiedMatching MONDO:0001435 bullous retinoschisis skos:exactMatch UMLS:C0344289 semapv:UnspecifiedMatching MONDO:0001436 hemosiderosis skos:exactMatch DOID:12119 hemosiderosis semapv:UnspecifiedMatching MONDO:0001436 hemosiderosis skos:exactMatch NCIT:C82892 Hemochromatosis semapv:UnspecifiedMatching MONDO:0001436 hemosiderosis skos:exactMatch SCTID:39011001 semapv:UnspecifiedMatching MONDO:0001436 hemosiderosis skos:exactMatch UMLS:C0019114 semapv:UnspecifiedMatching MONDO:0001436 hemosiderosis skos:exactMatch mesh:D006486 semapv:UnspecifiedMatching MONDO:0001437 pulmonary alveolar proteinosis skos:exactMatch DOID:12120 pulmonary alveolar proteinosis semapv:UnspecifiedMatching MONDO:0001437 pulmonary alveolar proteinosis skos:exactMatch NCIT:C85037 Pulmonary Alveolar Proteinosis semapv:UnspecifiedMatching MONDO:0001437 pulmonary alveolar proteinosis skos:exactMatch SCTID:10501004 semapv:UnspecifiedMatching MONDO:0001437 pulmonary alveolar proteinosis skos:exactMatch UMLS:C5400698 semapv:UnspecifiedMatching MONDO:0001437 pulmonary alveolar proteinosis skos:exactMatch mesh:D011649 semapv:UnspecifiedMatching MONDO:0001438 postinflammatory pulmonary fibrosis skos:exactMatch DOID:12123 postinflammatory pulmonary fibrosis semapv:UnspecifiedMatching MONDO:0001438 postinflammatory pulmonary fibrosis skos:exactMatch SCTID:266368002 semapv:UnspecifiedMatching MONDO:0001438 postinflammatory pulmonary fibrosis skos:exactMatch UMLS:C0175999 semapv:UnspecifiedMatching MONDO:0001439 episcleritis periodica fugax skos:exactMatch DOID:12124 episcleritis periodica fugax semapv:UnspecifiedMatching MONDO:0001439 episcleritis periodica fugax skos:exactMatch SCTID:31166000 semapv:UnspecifiedMatching MONDO:0001439 episcleritis periodica fugax skos:exactMatch UMLS:C0155351 semapv:UnspecifiedMatching MONDO:0001440 neurotrophic keratoconjunctivitis skos:exactMatch DOID:12125 neurotrophic keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0001440 neurotrophic keratoconjunctivitis skos:exactMatch SCTID:77080005 semapv:UnspecifiedMatching MONDO:0001440 neurotrophic keratoconjunctivitis skos:exactMatch UMLS:C0155084 semapv:UnspecifiedMatching MONDO:0001441 pica disease skos:exactMatch DOID:12128 pica disease semapv:UnspecifiedMatching MONDO:0001441 pica disease skos:exactMatch NCIT:C92566 Pica Eating Disorder semapv:UnspecifiedMatching MONDO:0001441 pica disease skos:exactMatch SCTID:14077003 semapv:UnspecifiedMatching MONDO:0001441 pica disease skos:exactMatch mesh:D010842 semapv:UnspecifiedMatching MONDO:0001442 dysthymic disorder skos:exactMatch DOID:12139 dysthymic disorder semapv:UnspecifiedMatching MONDO:0001442 dysthymic disorder skos:exactMatch ICD10CM:F34.1 Dysthymic disorder semapv:UnspecifiedMatching MONDO:0001442 dysthymic disorder skos:exactMatch NCIT:C34562 Dysthymic Disorder semapv:UnspecifiedMatching MONDO:0001442 dysthymic disorder skos:exactMatch SCTID:78667006 semapv:UnspecifiedMatching MONDO:0001442 dysthymic disorder skos:exactMatch mesh:D019263 semapv:UnspecifiedMatching MONDO:0001443 tympanosclerosis skos:exactMatch DOID:1214 tympanosclerosis semapv:UnspecifiedMatching MONDO:0001443 tympanosclerosis skos:exactMatch ICD10CM:H74.0 Tympanosclerosis semapv:UnspecifiedMatching MONDO:0001443 tympanosclerosis skos:exactMatch SCTID:23606001 semapv:UnspecifiedMatching MONDO:0001443 tympanosclerosis skos:exactMatch mesh:D063371 semapv:UnspecifiedMatching MONDO:0001444 Chagas disease skos:exactMatch DOID:12140 Chagas disease semapv:UnspecifiedMatching MONDO:0001444 Chagas disease skos:exactMatch ICD10CM:B57 Chagas' disease semapv:UnspecifiedMatching MONDO:0001444 Chagas disease skos:exactMatch NCIT:C84629 Chagas Disease semapv:UnspecifiedMatching MONDO:0001444 Chagas disease skos:exactMatch Orphanet:3386 American trypanosomiasis semapv:UnspecifiedMatching MONDO:0001444 Chagas disease skos:exactMatch SCTID:77506005 semapv:UnspecifiedMatching MONDO:0001444 Chagas disease skos:exactMatch UMLS:C0041234 semapv:UnspecifiedMatching MONDO:0001444 Chagas disease skos:exactMatch mesh:D014355 semapv:UnspecifiedMatching MONDO:0001445 obsolete neurogenic bladder skos:exactMatch DOID:12143 neurogenic bladder semapv:UnspecifiedMatching MONDO:0001445 obsolete neurogenic bladder skos:exactMatch SCTID:398064005 semapv:UnspecifiedMatching MONDO:0001445 obsolete neurogenic bladder skos:exactMatch UMLS:C0005697 semapv:UnspecifiedMatching MONDO:0001445 obsolete neurogenic bladder skos:exactMatch mesh:D001750 semapv:UnspecifiedMatching MONDO:0001446 low compliance bladder skos:exactMatch DOID:12144 low compliance bladder semapv:UnspecifiedMatching MONDO:0001446 low compliance bladder skos:exactMatch SCTID:9009001 semapv:UnspecifiedMatching MONDO:0001446 low compliance bladder skos:exactMatch UMLS:C0489967 semapv:UnspecifiedMatching MONDO:0001447 detrusor sphincter dyssynergia skos:exactMatch DOID:12145 detrusor sphincter dyssynergia semapv:UnspecifiedMatching MONDO:0001447 detrusor sphincter dyssynergia skos:exactMatch SCTID:236655005 semapv:UnspecifiedMatching MONDO:0001447 detrusor sphincter dyssynergia skos:exactMatch UMLS:C0341747 semapv:UnspecifiedMatching MONDO:0001449 lymphocytic choriomeningitis skos:exactMatch DOID:12155 lymphocytic choriomeningitis semapv:UnspecifiedMatching MONDO:0001449 lymphocytic choriomeningitis skos:exactMatch ICD10CM:A87.2 Lymphocytic choriomeningitis semapv:UnspecifiedMatching MONDO:0001449 lymphocytic choriomeningitis skos:exactMatch UMLS:C0024266 semapv:UnspecifiedMatching MONDO:0001449 lymphocytic choriomeningitis skos:exactMatch mesh:D008216 semapv:UnspecifiedMatching MONDO:0001451 peripheral retinal degeneration skos:exactMatch DOID:12161 peripheral retinal degeneration semapv:UnspecifiedMatching MONDO:0001451 peripheral retinal degeneration skos:exactMatch ICD10CM:H35.4 Peripheral retinal degeneration semapv:UnspecifiedMatching MONDO:0001451 peripheral retinal degeneration skos:exactMatch NCIT:C34919 Peripheral Retinal Degeneration semapv:UnspecifiedMatching MONDO:0001451 peripheral retinal degeneration skos:exactMatch SCTID:405721006 semapv:UnspecifiedMatching MONDO:0001451 peripheral retinal degeneration skos:exactMatch UMLS:C1320640 semapv:UnspecifiedMatching MONDO:0001452 pseudoretinitis pigmentosa skos:exactMatch DOID:12162 pseudoretinitis pigmentosa semapv:UnspecifiedMatching MONDO:0001452 pseudoretinitis pigmentosa skos:exactMatch SCTID:193396007 semapv:UnspecifiedMatching MONDO:0001452 pseudoretinitis pigmentosa skos:exactMatch UMLS:C2053820 semapv:UnspecifiedMatching MONDO:0001453 senile reticular retinal degeneration skos:exactMatch DOID:12163 senile reticular retinal degeneration semapv:UnspecifiedMatching MONDO:0001453 senile reticular retinal degeneration skos:exactMatch SCTID:54184008 semapv:UnspecifiedMatching MONDO:0001453 senile reticular retinal degeneration skos:exactMatch UMLS:C0154857 semapv:UnspecifiedMatching MONDO:0001454 Blessig's cysts skos:exactMatch DOID:12164 Blessig's cysts semapv:UnspecifiedMatching MONDO:0001454 Blessig's cysts skos:exactMatch SCTID:37075008 semapv:UnspecifiedMatching MONDO:0001454 Blessig's cysts skos:exactMatch UMLS:C0154855 semapv:UnspecifiedMatching MONDO:0001455 retinal lattice degeneration skos:exactMatch DOID:12165 retinal lattice degeneration semapv:UnspecifiedMatching MONDO:0001455 retinal lattice degeneration skos:exactMatch SCTID:3577000 semapv:UnspecifiedMatching MONDO:0001455 retinal lattice degeneration skos:exactMatch UMLS:C0154856 semapv:UnspecifiedMatching MONDO:0001456 cobblestone retinal degeneration skos:exactMatch DOID:12166 cobblestone retinal degeneration semapv:UnspecifiedMatching MONDO:0001456 cobblestone retinal degeneration skos:exactMatch SCTID:69134001 semapv:UnspecifiedMatching MONDO:0001456 cobblestone retinal degeneration skos:exactMatch UMLS:C0154854 semapv:UnspecifiedMatching MONDO:0001457 secondary vitreoretinal degeneration skos:exactMatch DOID:12167 secondary vitreoretinal degeneration semapv:UnspecifiedMatching MONDO:0001457 secondary vitreoretinal degeneration skos:exactMatch SCTID:60676002 semapv:UnspecifiedMatching MONDO:0001457 secondary vitreoretinal degeneration skos:exactMatch UMLS:C0154859 semapv:UnspecifiedMatching MONDO:0001458 ulnar nerve lesion skos:exactMatch DOID:12168 ulnar nerve lesion semapv:UnspecifiedMatching MONDO:0001458 ulnar nerve lesion skos:exactMatch SCTID:367475009 semapv:UnspecifiedMatching MONDO:0001458 ulnar nerve lesion skos:exactMatch UMLS:C1288279 semapv:UnspecifiedMatching MONDO:0001459 radial neuropathy skos:exactMatch DOID:12171 radial neuropathy semapv:UnspecifiedMatching MONDO:0001459 radial neuropathy skos:exactMatch SCTID:16644004 semapv:UnspecifiedMatching MONDO:0001459 radial neuropathy skos:exactMatch UMLS:C0748226 semapv:UnspecifiedMatching MONDO:0001459 radial neuropathy skos:exactMatch mesh:D020425 semapv:UnspecifiedMatching MONDO:0001460 dyshormonogenic goiter skos:exactMatch DOID:12175 dyshormonogenic goiter semapv:UnspecifiedMatching MONDO:0001460 dyshormonogenic goiter skos:exactMatch SCTID:190304001 semapv:UnspecifiedMatching MONDO:0001460 dyshormonogenic goiter skos:exactMatch UMLS:C0152077 semapv:UnspecifiedMatching MONDO:0001461 tinea corporis skos:exactMatch DOID:12179 tinea corporis semapv:UnspecifiedMatching MONDO:0001461 tinea corporis skos:exactMatch ICD10CM:B35.4 Tinea corporis semapv:UnspecifiedMatching MONDO:0001461 tinea corporis skos:exactMatch SCTID:84849002 semapv:UnspecifiedMatching MONDO:0001461 tinea corporis skos:exactMatch UMLS:C0040252 semapv:UnspecifiedMatching MONDO:0001462 descending colon cancer skos:exactMatch DOID:12190 descending colon cancer semapv:UnspecifiedMatching MONDO:0001462 descending colon cancer skos:exactMatch SCTID:363409003 semapv:UnspecifiedMatching MONDO:0001462 descending colon cancer skos:exactMatch UMLS:C0153435 semapv:UnspecifiedMatching MONDO:0001463 splenic flexure cancer skos:exactMatch DOID:12191 splenic flexure cancer semapv:UnspecifiedMatching MONDO:0001463 splenic flexure cancer skos:exactMatch SCTID:363413005 semapv:UnspecifiedMatching MONDO:0001463 splenic flexure cancer skos:exactMatch UMLS:C0153440 semapv:UnspecifiedMatching MONDO:0001464 sigmoid colon cancer skos:exactMatch DOID:12192 sigmoid colon cancer semapv:UnspecifiedMatching MONDO:0001464 sigmoid colon cancer skos:exactMatch SCTID:363410008 semapv:UnspecifiedMatching MONDO:0001464 sigmoid colon cancer skos:exactMatch UMLS:C0153436 semapv:UnspecifiedMatching MONDO:0001465 superficial keratitis skos:exactMatch DOID:12196 superficial keratitis semapv:UnspecifiedMatching MONDO:0001465 superficial keratitis skos:exactMatch SCTID:27019000 semapv:UnspecifiedMatching MONDO:0001465 superficial keratitis skos:exactMatch UMLS:C0155074 semapv:UnspecifiedMatching MONDO:0001466 punctate epithelial keratoconjunctivitis skos:exactMatch DOID:12197 punctate epithelial keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0001466 punctate epithelial keratoconjunctivitis skos:exactMatch SCTID:416069001 semapv:UnspecifiedMatching MONDO:0001466 punctate epithelial keratoconjunctivitis skos:exactMatch UMLS:C1562761 semapv:UnspecifiedMatching MONDO:0001467 obsolete specific bursitis often of occupational origin skos:exactMatch DOID:12223 specific bursitis often of occupational origin semapv:UnspecifiedMatching MONDO:0001467 obsolete specific bursitis often of occupational origin skos:exactMatch SCTID:42812006 semapv:UnspecifiedMatching MONDO:0001467 obsolete specific bursitis often of occupational origin skos:exactMatch UMLS:C0158332 semapv:UnspecifiedMatching MONDO:0001468 synovial plica syndrome skos:exactMatch DOID:12225 Plica syndrome semapv:UnspecifiedMatching MONDO:0001468 synovial plica syndrome skos:exactMatch SCTID:240171001 semapv:UnspecifiedMatching MONDO:0001469 cascade stomach skos:exactMatch DOID:12234 cascade stomach semapv:UnspecifiedMatching MONDO:0001469 cascade stomach skos:exactMatch SCTID:54051005 semapv:UnspecifiedMatching MONDO:0001469 cascade stomach skos:exactMatch UMLS:C0267183 semapv:UnspecifiedMatching MONDO:0001470 anal margin squamous cell carcinoma skos:exactMatch DOID:12239 anal margin squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0001470 anal margin squamous cell carcinoma skos:exactMatch NCIT:C6925 Anal Margin Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0001470 anal margin squamous cell carcinoma skos:exactMatch SCTID:255084004 semapv:UnspecifiedMatching MONDO:0001470 anal margin squamous cell carcinoma skos:exactMatch UMLS:C1412037 semapv:UnspecifiedMatching MONDO:0001471 histoplasmosis meningitis skos:exactMatch DOID:12246 histoplasmosis meningitis semapv:UnspecifiedMatching MONDO:0001472 testicular lymphoma skos:exactMatch DOID:12253 testicular lymphoma semapv:UnspecifiedMatching MONDO:0001472 testicular lymphoma skos:exactMatch NCIT:C6810 Testicular Lymphoma semapv:UnspecifiedMatching MONDO:0001472 testicular lymphoma skos:exactMatch SCTID:277664004 semapv:UnspecifiedMatching MONDO:0001472 testicular lymphoma skos:exactMatch UMLS:C0349644 semapv:UnspecifiedMatching MONDO:0001473 medulloadrenal hyperfunction skos:exactMatch DOID:12257 medulloadrenal hyperfunction semapv:UnspecifiedMatching MONDO:0001473 medulloadrenal hyperfunction skos:exactMatch SCTID:111565003 semapv:UnspecifiedMatching MONDO:0001473 medulloadrenal hyperfunction skos:exactMatch UMLS:C0154206 semapv:UnspecifiedMatching MONDO:0001474 chronic salpingo-oophoritis skos:exactMatch DOID:12265 chronic salpingo-oophoritis semapv:UnspecifiedMatching MONDO:0001474 chronic salpingo-oophoritis skos:exactMatch SCTID:198142001 semapv:UnspecifiedMatching MONDO:0001474 chronic salpingo-oophoritis skos:exactMatch UMLS:C0156328 semapv:UnspecifiedMatching MONDO:0001475 neutropenia skos:exactMatch DOID:1227 neutropenia semapv:UnspecifiedMatching MONDO:0001475 neutropenia skos:exactMatch SCTID:303011007 semapv:UnspecifiedMatching MONDO:0001475 neutropenia skos:exactMatch UMLS:C0853697 semapv:UnspecifiedMatching MONDO:0001475 neutropenia skos:exactMatch mesh:D009503 semapv:UnspecifiedMatching MONDO:0001476 coloboma skos:exactMatch DOID:12270 coloboma semapv:UnspecifiedMatching MONDO:0001476 coloboma skos:exactMatch NCIT:C98877 Coloboma of the Eye semapv:UnspecifiedMatching MONDO:0001476 coloboma skos:exactMatch SCTID:93390002 semapv:UnspecifiedMatching MONDO:0001476 coloboma skos:exactMatch mesh:D003103 semapv:UnspecifiedMatching MONDO:0001478 anisometropia skos:exactMatch DOID:12273 anisometropia semapv:UnspecifiedMatching MONDO:0001478 anisometropia skos:exactMatch ICD10CM:H52.31 Anisometropia semapv:UnspecifiedMatching MONDO:0001478 anisometropia skos:exactMatch SCTID:3289004 semapv:UnspecifiedMatching MONDO:0001478 anisometropia skos:exactMatch UMLS:C0003081 semapv:UnspecifiedMatching MONDO:0001478 anisometropia skos:exactMatch mesh:D015858 semapv:UnspecifiedMatching MONDO:0001479 cutaneous diphtheria skos:exactMatch DOID:12275 cutaneous diphtheria semapv:UnspecifiedMatching MONDO:0001479 cutaneous diphtheria skos:exactMatch ICD10CM:A36.3 Cutaneous diphtheria semapv:UnspecifiedMatching MONDO:0001479 cutaneous diphtheria skos:exactMatch NCIT:C34544 Cutaneous Diphtheria semapv:UnspecifiedMatching MONDO:0001479 cutaneous diphtheria skos:exactMatch SCTID:18901009 semapv:UnspecifiedMatching MONDO:0001479 cutaneous diphtheria skos:exactMatch UMLS:C0012555 semapv:UnspecifiedMatching MONDO:0001480 malignant tumor of undescended testis skos:exactMatch DOID:12276 malignant tumor of undescended testis semapv:UnspecifiedMatching MONDO:0001480 malignant tumor of undescended testis skos:exactMatch SCTID:188219004 semapv:UnspecifiedMatching MONDO:0001480 malignant tumor of undescended testis skos:exactMatch UMLS:C0153595 semapv:UnspecifiedMatching MONDO:0001481 femoral vein thrombophlebitis skos:exactMatch DOID:12282 femoral vein thrombophlebitis semapv:UnspecifiedMatching MONDO:0001481 femoral vein thrombophlebitis skos:exactMatch SCTID:1748006 semapv:UnspecifiedMatching MONDO:0001481 femoral vein thrombophlebitis skos:exactMatch UMLS:C0265066 semapv:UnspecifiedMatching MONDO:0001482 testicular leukemia skos:exactMatch DOID:12286 testicular leukemia semapv:UnspecifiedMatching MONDO:0001482 testicular leukemia skos:exactMatch NCIT:C9277 Testicular Leukemia semapv:UnspecifiedMatching MONDO:0001482 testicular leukemia skos:exactMatch UMLS:C1336711 semapv:UnspecifiedMatching MONDO:0001484 paranoid schizophrenia skos:exactMatch DOID:1229 paranoid schizophrenia semapv:UnspecifiedMatching MONDO:0001484 paranoid schizophrenia skos:exactMatch ICD10CM:F20.0 Paranoid schizophrenia semapv:UnspecifiedMatching MONDO:0001484 paranoid schizophrenia skos:exactMatch NCIT:C35006 Paranoid Type Schizophrenia semapv:UnspecifiedMatching MONDO:0001484 paranoid schizophrenia skos:exactMatch SCTID:31658008 semapv:UnspecifiedMatching MONDO:0001484 paranoid schizophrenia skos:exactMatch mesh:D012563 semapv:UnspecifiedMatching MONDO:0001485 atypical depressive disorder skos:exactMatch DOID:12294 atypical depressive disorder semapv:UnspecifiedMatching MONDO:0001485 atypical depressive disorder skos:exactMatch SCTID:191659001 semapv:UnspecifiedMatching MONDO:0001487 intrahepatic bile duct cancer skos:exactMatch DOID:12298 intrahepatic gall duct cancer semapv:UnspecifiedMatching MONDO:0001487 intrahepatic bile duct cancer skos:exactMatch SCTID:187777008 semapv:UnspecifiedMatching MONDO:0001487 intrahepatic bile duct cancer skos:exactMatch UMLS:C0546835 semapv:UnspecifiedMatching MONDO:0001488 anterior corneal pigmentation skos:exactMatch DOID:12307 anterior corneal pigmentation semapv:UnspecifiedMatching MONDO:0001488 anterior corneal pigmentation skos:exactMatch SCTID:18377001 semapv:UnspecifiedMatching MONDO:0001488 anterior corneal pigmentation skos:exactMatch UMLS:C0155104 semapv:UnspecifiedMatching MONDO:0001490 corneal granular dystrophy skos:exactMatch DOID:12318 granular corneal dystrophy semapv:UnspecifiedMatching MONDO:0001490 corneal granular dystrophy skos:exactMatch ICD10CM:H18.53 Granular corneal dystrophy semapv:UnspecifiedMatching MONDO:0001490 corneal granular dystrophy skos:exactMatch NCIT:C34651 Granular Corneal Dystrophy semapv:UnspecifiedMatching MONDO:0001490 corneal granular dystrophy skos:exactMatch SCTID:45283008 semapv:UnspecifiedMatching MONDO:0001490 corneal granular dystrophy skos:exactMatch UMLS:C0018179 semapv:UnspecifiedMatching MONDO:0001491 cough variant asthma skos:exactMatch DOID:12323 cough variant asthma semapv:UnspecifiedMatching MONDO:0001491 cough variant asthma skos:exactMatch ICD10CM:J45.991 Cough variant asthma semapv:UnspecifiedMatching MONDO:0001491 cough variant asthma skos:exactMatch SCTID:409663006 semapv:UnspecifiedMatching MONDO:0001491 cough variant asthma skos:exactMatch UMLS:C0694548 semapv:UnspecifiedMatching MONDO:0001492 kyphoscoliotic heart disease skos:exactMatch DOID:12325 kyphoscoliotic heart disease semapv:UnspecifiedMatching MONDO:0001492 kyphoscoliotic heart disease skos:exactMatch ICD10CM:I27.1 Kyphoscoliotic heart disease semapv:UnspecifiedMatching MONDO:0001492 kyphoscoliotic heart disease skos:exactMatch SCTID:45650007 semapv:UnspecifiedMatching MONDO:0001492 kyphoscoliotic heart disease skos:exactMatch UMLS:C0152102 semapv:UnspecifiedMatching MONDO:0001493 chronic pulmonary heart disease skos:exactMatch DOID:12326 chronic pulmonary heart disease semapv:UnspecifiedMatching MONDO:0001493 chronic pulmonary heart disease skos:exactMatch NCIT:C34478 Cor Pulmonale semapv:UnspecifiedMatching MONDO:0001493 chronic pulmonary heart disease skos:exactMatch SCTID:87837008 semapv:UnspecifiedMatching MONDO:0001493 chronic pulmonary heart disease skos:exactMatch UMLS:C0238074 semapv:UnspecifiedMatching MONDO:0001494 obsolete transvestism skos:exactMatch DOID:1233 transvestism semapv:UnspecifiedMatching MONDO:0001494 obsolete transvestism skos:exactMatch NCIT:C94359 Transvestic Fetishism semapv:UnspecifiedMatching MONDO:0001494 obsolete transvestism skos:exactMatch SCTID:472981000 semapv:UnspecifiedMatching MONDO:0001494 obsolete transvestism skos:exactMatch UMLS:C0040774 semapv:UnspecifiedMatching MONDO:0001494 obsolete transvestism skos:exactMatch mesh:D014190 semapv:UnspecifiedMatching MONDO:0001495 hematocele of tunica vaginalis testis skos:exactMatch DOID:12332 hematocele of tunica vaginalis testis semapv:UnspecifiedMatching MONDO:0001495 hematocele of tunica vaginalis testis skos:exactMatch SCTID:66259004 semapv:UnspecifiedMatching MONDO:0001495 hematocele of tunica vaginalis testis skos:exactMatch UMLS:C0018931 semapv:UnspecifiedMatching MONDO:0001495 hematocele of tunica vaginalis testis skos:exactMatch UMLS:C1456400 semapv:UnspecifiedMatching MONDO:0001495 hematocele of tunica vaginalis testis skos:exactMatch mesh:D006398 semapv:UnspecifiedMatching MONDO:0001496 male genital organ stricture skos:exactMatch DOID:12333 male genital organ stricture semapv:UnspecifiedMatching MONDO:0001496 male genital organ stricture skos:exactMatch SCTID:198064007 semapv:UnspecifiedMatching MONDO:0001497 male genital organ vascular disease skos:exactMatch DOID:12335 male genital organ vascular disease semapv:UnspecifiedMatching MONDO:0001497 male genital organ vascular disease skos:exactMatch SCTID:198057005 semapv:UnspecifiedMatching MONDO:0001497 male genital organ vascular disease skos:exactMatch UMLS:C0042374 semapv:UnspecifiedMatching MONDO:0001498 varicocele skos:exactMatch DOID:12337 varicocele semapv:UnspecifiedMatching MONDO:0001498 varicocele skos:exactMatch ICD10CM:I86.1 Scrotal varices semapv:UnspecifiedMatching MONDO:0001498 varicocele skos:exactMatch SCTID:46871008 semapv:UnspecifiedMatching MONDO:0001498 varicocele skos:exactMatch UMLS:C0042341 semapv:UnspecifiedMatching MONDO:0001498 varicocele skos:exactMatch mesh:D014646 semapv:UnspecifiedMatching MONDO:0001499 retroperitoneal lymphoma skos:exactMatch DOID:12339 retroperitoneal lymphoma semapv:UnspecifiedMatching MONDO:0001499 retroperitoneal lymphoma skos:exactMatch NCIT:C7353 Retroperitoneal Lymphoma semapv:UnspecifiedMatching MONDO:0001499 retroperitoneal lymphoma skos:exactMatch SCTID:422853008 semapv:UnspecifiedMatching MONDO:0001499 retroperitoneal lymphoma skos:exactMatch UMLS:C1335779 semapv:UnspecifiedMatching MONDO:0001500 obsolete gender identity disorder skos:exactMatch DOID:1234 gender incongruence semapv:UnspecifiedMatching MONDO:0001500 obsolete gender identity disorder skos:exactMatch NCIT:C94362 Gender Identity Disorder semapv:UnspecifiedMatching MONDO:0001500 obsolete gender identity disorder skos:exactMatch SCTID:87991007 semapv:UnspecifiedMatching MONDO:0001501 retroperitoneal sarcoma skos:exactMatch DOID:12341 retroperitoneal sarcoma semapv:UnspecifiedMatching MONDO:0001501 retroperitoneal sarcoma skos:exactMatch NCIT:C4832 Retroperitoneal Sarcoma semapv:UnspecifiedMatching MONDO:0001501 retroperitoneal sarcoma skos:exactMatch SCTID:307219002 semapv:UnspecifiedMatching MONDO:0001501 retroperitoneal sarcoma skos:exactMatch UMLS:C0585129 semapv:UnspecifiedMatching MONDO:0001502 retroperitoneum carcinoma skos:exactMatch DOID:12342 retroperitoneum carcinoma semapv:UnspecifiedMatching MONDO:0001502 retroperitoneum carcinoma skos:exactMatch NCIT:C7352 Retroperitoneal Carcinoma semapv:UnspecifiedMatching MONDO:0001502 retroperitoneum carcinoma skos:exactMatch UMLS:C0948749 semapv:UnspecifiedMatching MONDO:0001503 primary eye hypotony skos:exactMatch DOID:12349 primary eye hypotony semapv:UnspecifiedMatching MONDO:0001503 primary eye hypotony skos:exactMatch SCTID:2251002 semapv:UnspecifiedMatching MONDO:0001503 primary eye hypotony skos:exactMatch UMLS:C0154782 semapv:UnspecifiedMatching MONDO:0001504 fetishistic disorder skos:exactMatch DOID:1235 fetishism semapv:UnspecifiedMatching MONDO:0001504 fetishistic disorder skos:exactMatch ICD10CM:F65.0 Fetishism semapv:UnspecifiedMatching MONDO:0001504 fetishistic disorder skos:exactMatch NCIT:C94353 Fetishism semapv:UnspecifiedMatching MONDO:0001504 fetishistic disorder skos:exactMatch SCTID:59174009 semapv:UnspecifiedMatching MONDO:0001504 fetishistic disorder skos:exactMatch mesh:D005329 semapv:UnspecifiedMatching MONDO:0001505 alcoholic hepatitis skos:exactMatch DOID:12351 alcoholic hepatitis semapv:UnspecifiedMatching MONDO:0001505 alcoholic hepatitis skos:exactMatch ICD10CM:K70.1 Alcoholic hepatitis semapv:UnspecifiedMatching MONDO:0001505 alcoholic hepatitis skos:exactMatch NCIT:C34684 Alcoholic Hepatitis semapv:UnspecifiedMatching MONDO:0001505 alcoholic hepatitis skos:exactMatch SCTID:235875008 semapv:UnspecifiedMatching MONDO:0001505 alcoholic hepatitis skos:exactMatch UMLS:C0019187 semapv:UnspecifiedMatching MONDO:0001505 alcoholic hepatitis skos:exactMatch mesh:D006519 semapv:UnspecifiedMatching MONDO:0001506 prostatocystitis skos:exactMatch DOID:12355 prostatocystitis semapv:UnspecifiedMatching MONDO:0001506 prostatocystitis skos:exactMatch ICD10CM:N41.3 Prostatocystitis semapv:UnspecifiedMatching MONDO:0001506 prostatocystitis skos:exactMatch SCTID:67685000 semapv:UnspecifiedMatching MONDO:0001506 prostatocystitis skos:exactMatch UMLS:C0156291 semapv:UnspecifiedMatching MONDO:0001507 viral labyrinthitis skos:exactMatch DOID:12357 viral labyrinthitis semapv:UnspecifiedMatching MONDO:0001507 viral labyrinthitis skos:exactMatch SCTID:409711008 semapv:UnspecifiedMatching MONDO:0001507 viral labyrinthitis skos:exactMatch UMLS:C0155508 semapv:UnspecifiedMatching MONDO:0001508 patulous eustachian tube skos:exactMatch DOID:12358 patulous eustachian tube semapv:UnspecifiedMatching MONDO:0001508 patulous eustachian tube skos:exactMatch ICD10CM:H69.0 Patulous Eustachian tube semapv:UnspecifiedMatching MONDO:0001508 patulous eustachian tube skos:exactMatch SCTID:30280005 semapv:UnspecifiedMatching MONDO:0001508 patulous eustachian tube skos:exactMatch UMLS:C0155434 semapv:UnspecifiedMatching MONDO:0001509 endocrine exophthalmos skos:exactMatch DOID:12359 endocrine exophthalmos semapv:UnspecifiedMatching MONDO:0001509 endocrine exophthalmos skos:exactMatch SCTID:276177000 semapv:UnspecifiedMatching MONDO:0001509 endocrine exophthalmos skos:exactMatch UMLS:C0155264 semapv:UnspecifiedMatching MONDO:0001510 lateral displacement of eye skos:exactMatch DOID:12360 lateral displacement of eye semapv:UnspecifiedMatching MONDO:0001510 lateral displacement of eye skos:exactMatch SCTID:48747004 semapv:UnspecifiedMatching MONDO:0001510 lateral displacement of eye skos:exactMatch UMLS:C0155272 semapv:UnspecifiedMatching MONDO:0001511 thyrotoxic exophthalmos skos:exactMatch DOID:12362 thyrotoxic exophthalmos semapv:UnspecifiedMatching MONDO:0001511 thyrotoxic exophthalmos skos:exactMatch SCTID:19885005 semapv:UnspecifiedMatching MONDO:0001511 thyrotoxic exophthalmos skos:exactMatch UMLS:C0155265 semapv:UnspecifiedMatching MONDO:0001512 intermittent proptosis skos:exactMatch DOID:12363 intermittent proptosis semapv:UnspecifiedMatching MONDO:0001512 intermittent proptosis skos:exactMatch SCTID:49774006 semapv:UnspecifiedMatching MONDO:0001512 intermittent proptosis skos:exactMatch UMLS:C0155270 semapv:UnspecifiedMatching MONDO:0001513 pulsating exophthalmos skos:exactMatch DOID:12364 pulsating exophthalmos semapv:UnspecifiedMatching MONDO:0001513 pulsating exophthalmos skos:exactMatch SCTID:2284002 semapv:UnspecifiedMatching MONDO:0001513 pulsating exophthalmos skos:exactMatch UMLS:C0155271 semapv:UnspecifiedMatching MONDO:0001514 prolapse of urethra skos:exactMatch DOID:12369 prolapse of urethra semapv:UnspecifiedMatching MONDO:0001514 prolapse of urethra skos:exactMatch ICD10CM:N81.0 Urethrocele semapv:UnspecifiedMatching MONDO:0001514 prolapse of urethra skos:exactMatch SCTID:12068006 semapv:UnspecifiedMatching MONDO:0001514 prolapse of urethra skos:exactMatch UMLS:C0238502 semapv:UnspecifiedMatching MONDO:0001515 corneal degeneration skos:exactMatch DOID:1237 corneal degeneration semapv:UnspecifiedMatching MONDO:0001515 corneal degeneration skos:exactMatch ICD10CM:H18.4 Corneal degeneration semapv:UnspecifiedMatching MONDO:0001515 corneal degeneration skos:exactMatch SCTID:111521006 semapv:UnspecifiedMatching MONDO:0001515 corneal degeneration skos:exactMatch UMLS:C0155118 semapv:UnspecifiedMatching MONDO:0001516 spinal muscular atrophy skos:exactMatch DOID:12377 spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0001516 spinal muscular atrophy skos:exactMatch NCIT:C85075 Spinal Muscular Atrophy semapv:UnspecifiedMatching MONDO:0001516 spinal muscular atrophy skos:exactMatch SCTID:5262007 semapv:UnspecifiedMatching MONDO:0001516 spinal muscular atrophy skos:exactMatch UMLS:C0026847 semapv:UnspecifiedMatching MONDO:0001516 spinal muscular atrophy skos:exactMatch mesh:D009134 semapv:UnspecifiedMatching MONDO:0001517 dysentery skos:exactMatch DOID:12384 dysentery semapv:UnspecifiedMatching MONDO:0001517 dysentery skos:exactMatch SCTID:111939009 semapv:UnspecifiedMatching MONDO:0001517 dysentery skos:exactMatch SCTID:19213003 semapv:UnspecifiedMatching MONDO:0001517 dysentery skos:exactMatch UMLS:C0013369 semapv:UnspecifiedMatching MONDO:0001517 dysentery skos:exactMatch mesh:D004403 semapv:UnspecifiedMatching MONDO:0001518 spastic entropion skos:exactMatch DOID:12395 spastic entropion semapv:UnspecifiedMatching MONDO:0001518 spastic entropion skos:exactMatch SCTID:20828000 semapv:UnspecifiedMatching MONDO:0001518 spastic entropion skos:exactMatch UMLS:C0155190 semapv:UnspecifiedMatching MONDO:0001519 entropion skos:exactMatch DOID:12397 entropion semapv:UnspecifiedMatching MONDO:0001519 entropion skos:exactMatch SCTID:33168009 semapv:UnspecifiedMatching MONDO:0001519 entropion skos:exactMatch UMLS:C0014390 semapv:UnspecifiedMatching MONDO:0001519 entropion skos:exactMatch mesh:D004774 semapv:UnspecifiedMatching MONDO:0001520 kleptomania skos:exactMatch DOID:12400 kleptomania semapv:UnspecifiedMatching MONDO:0001520 kleptomania skos:exactMatch ICD10CM:F63.2 Kleptomania semapv:UnspecifiedMatching MONDO:0001520 kleptomania skos:exactMatch NCIT:C94333 Kleptomania semapv:UnspecifiedMatching MONDO:0001520 kleptomania skos:exactMatch SCTID:69361009 semapv:UnspecifiedMatching MONDO:0001521 intermittent explosive disorder skos:exactMatch DOID:12401 intermittent explosive disorder semapv:UnspecifiedMatching MONDO:0001521 intermittent explosive disorder skos:exactMatch ICD10CM:F63.81 Intermittent explosive disorder semapv:UnspecifiedMatching MONDO:0001521 intermittent explosive disorder skos:exactMatch NCIT:C94332 Intermittent Explosive Disorder semapv:UnspecifiedMatching MONDO:0001521 intermittent explosive disorder skos:exactMatch SCTID:231527003 semapv:UnspecifiedMatching MONDO:0001522 pyromania skos:exactMatch DOID:12402 pyromania semapv:UnspecifiedMatching MONDO:0001522 pyromania skos:exactMatch ICD10CM:F63.1 Pyromania semapv:UnspecifiedMatching MONDO:0001522 pyromania skos:exactMatch NCIT:C94334 Pyromania semapv:UnspecifiedMatching MONDO:0001522 pyromania skos:exactMatch SCTID:600009 semapv:UnspecifiedMatching MONDO:0001522 pyromania skos:exactMatch mesh:D005391 semapv:UnspecifiedMatching MONDO:0001523 luxation of globe skos:exactMatch DOID:1241 luxation of globe semapv:UnspecifiedMatching MONDO:0001523 luxation of globe skos:exactMatch SCTID:20842008 semapv:UnspecifiedMatching MONDO:0001523 luxation of globe skos:exactMatch UMLS:C0154806 semapv:UnspecifiedMatching MONDO:0001525 thyrocalcitonin secretion disease skos:exactMatch DOID:12424 thyrocalcitonin secretion disease semapv:UnspecifiedMatching MONDO:0001525 thyrocalcitonin secretion disease skos:exactMatch SCTID:190303007 semapv:UnspecifiedMatching MONDO:0001525 thyrocalcitonin secretion disease skos:exactMatch UMLS:C0701822 semapv:UnspecifiedMatching MONDO:0001526 labia minora cancer skos:exactMatch DOID:1243 labia minora cancer semapv:UnspecifiedMatching MONDO:0001526 labia minora cancer skos:exactMatch ICD10CM:C51.1 Malignant neoplasm of labium minus semapv:UnspecifiedMatching MONDO:0001526 labia minora cancer skos:exactMatch NCIT:C7637 Malignant Labia Minora Neoplasm semapv:UnspecifiedMatching MONDO:0001526 labia minora cancer skos:exactMatch SCTID:363447008 semapv:UnspecifiedMatching MONDO:0001526 labia minora cancer skos:exactMatch UMLS:C0496815 semapv:UnspecifiedMatching MONDO:0001527 conjugate gaze palsy skos:exactMatch DOID:12445 conjugate gaze palsy semapv:UnspecifiedMatching MONDO:0001527 conjugate gaze palsy skos:exactMatch SCTID:1534008 semapv:UnspecifiedMatching MONDO:0001528 vulva cancer skos:exactMatch DOID:1245 vulva cancer semapv:UnspecifiedMatching MONDO:0001528 vulva cancer skos:exactMatch NCIT:C7502 Malignant Vulvar Neoplasm semapv:UnspecifiedMatching MONDO:0001528 vulva cancer skos:exactMatch SCTID:363367000 semapv:UnspecifiedMatching MONDO:0001528 vulva cancer skos:exactMatch mesh:D014846 semapv:UnspecifiedMatching MONDO:0001529 pancytopenia skos:exactMatch DOID:12450 pancytopenia semapv:UnspecifiedMatching MONDO:0001529 pancytopenia skos:exactMatch NCIT:C34889 Pancytopenia semapv:UnspecifiedMatching MONDO:0001529 pancytopenia skos:exactMatch SCTID:127034005 semapv:UnspecifiedMatching MONDO:0001529 pancytopenia skos:exactMatch UMLS:C0030312 semapv:UnspecifiedMatching MONDO:0001529 pancytopenia skos:exactMatch mesh:D010198 semapv:UnspecifiedMatching MONDO:0001530 secondary hyperparathyroidism of renal origin skos:exactMatch DOID:12465 secondary hyperparathyroidism of renal origin semapv:UnspecifiedMatching MONDO:0001530 secondary hyperparathyroidism of renal origin skos:exactMatch ICD10CM:N25.81 Secondary hyperparathyroidism of renal origin semapv:UnspecifiedMatching MONDO:0001530 secondary hyperparathyroidism of renal origin skos:exactMatch SCTID:19034001 semapv:UnspecifiedMatching MONDO:0001530 secondary hyperparathyroidism of renal origin skos:exactMatch UMLS:C0271847 semapv:UnspecifiedMatching MONDO:0001531 blood coagulation disease skos:exactMatch DOID:1247 blood coagulation disease semapv:UnspecifiedMatching MONDO:0001531 blood coagulation disease skos:exactMatch NCIT:C2902 Coagulation Disorder semapv:UnspecifiedMatching MONDO:0001531 blood coagulation disease skos:exactMatch SCTID:64779008 semapv:UnspecifiedMatching MONDO:0001531 blood coagulation disease skos:exactMatch mesh:D001778 semapv:UnspecifiedMatching MONDO:0001532 capillariasis skos:exactMatch DOID:12474 capillariasis semapv:UnspecifiedMatching MONDO:0001532 capillariasis skos:exactMatch SCTID:52979002 semapv:UnspecifiedMatching MONDO:0001532 capillariasis skos:exactMatch UMLS:C0006897 semapv:UnspecifiedMatching MONDO:0001533 pes anserinus tendinitis or bursitis skos:exactMatch DOID:12475 pes anserinus tendinitis or bursitis semapv:UnspecifiedMatching MONDO:0001534 ocular hyperemia skos:exactMatch DOID:1248 ocular hyperemia semapv:UnspecifiedMatching MONDO:0001534 ocular hyperemia skos:exactMatch SCTID:359610006 semapv:UnspecifiedMatching MONDO:0001534 ocular hyperemia skos:exactMatch UMLS:C0155169 semapv:UnspecifiedMatching MONDO:0001535 vagus nerve disorder skos:exactMatch DOID:12491 Vagus nerve disease semapv:UnspecifiedMatching MONDO:0001535 vagus nerve disorder skos:exactMatch NCIT:C27591 Vagus Nerve Disorder semapv:UnspecifiedMatching MONDO:0001535 vagus nerve disorder skos:exactMatch SCTID:73765005 semapv:UnspecifiedMatching MONDO:0001535 vagus nerve disorder skos:exactMatch UMLS:C0152179 semapv:UnspecifiedMatching MONDO:0001535 vagus nerve disorder skos:exactMatch mesh:D020421 semapv:UnspecifiedMatching MONDO:0001536 vaginal leiomyoma skos:exactMatch DOID:125 vagina leiomyoma semapv:UnspecifiedMatching MONDO:0001536 vaginal leiomyoma skos:exactMatch NCIT:C6373 Vaginal Leiomyoma semapv:UnspecifiedMatching MONDO:0001536 vaginal leiomyoma skos:exactMatch UMLS:C1336939 semapv:UnspecifiedMatching MONDO:0001537 tuberculous epididymitis skos:exactMatch DOID:1251 tuberculous epididymitis semapv:UnspecifiedMatching MONDO:0001537 tuberculous epididymitis skos:exactMatch SCTID:83652003 semapv:UnspecifiedMatching MONDO:0001537 tuberculous epididymitis skos:exactMatch UMLS:C0152814 semapv:UnspecifiedMatching MONDO:0001538 retinal ischemia skos:exactMatch DOID:12510 retinal ischemia semapv:UnspecifiedMatching MONDO:0001538 retinal ischemia skos:exactMatch ICD10CM:H35.82 Retinal ischemia semapv:UnspecifiedMatching MONDO:0001538 retinal ischemia skos:exactMatch SCTID:26468004 semapv:UnspecifiedMatching MONDO:0001538 retinal ischemia skos:exactMatch UMLS:C0162291 semapv:UnspecifiedMatching MONDO:0001539 retinal perforation skos:exactMatch DOID:12514 retinal perforation semapv:UnspecifiedMatching MONDO:0001539 retinal perforation skos:exactMatch SCTID:232003005 semapv:UnspecifiedMatching MONDO:0001539 retinal perforation skos:exactMatch UMLS:C0035321 semapv:UnspecifiedMatching MONDO:0001539 retinal perforation skos:exactMatch mesh:D012167 semapv:UnspecifiedMatching MONDO:0001540 bagassosis skos:exactMatch DOID:12522 bagassosis semapv:UnspecifiedMatching MONDO:0001540 bagassosis skos:exactMatch ICD10CM:J67.1 Bagassosis semapv:UnspecifiedMatching MONDO:0001540 bagassosis skos:exactMatch NCIT:C34409 Bagassosis semapv:UnspecifiedMatching MONDO:0001540 bagassosis skos:exactMatch SCTID:67242002 semapv:UnspecifiedMatching MONDO:0001540 bagassosis skos:exactMatch UMLS:C0004681 semapv:UnspecifiedMatching MONDO:0001541 plantar nerve lesion skos:exactMatch DOID:12524 plantar nerve lesion semapv:UnspecifiedMatching MONDO:0001541 plantar nerve lesion skos:exactMatch SCTID:193148004 semapv:UnspecifiedMatching MONDO:0001541 plantar nerve lesion skos:exactMatch UMLS:C0154752 semapv:UnspecifiedMatching MONDO:0001542 common peroneal nerve lesion skos:exactMatch DOID:12527 common peroneal nerve lesion semapv:UnspecifiedMatching MONDO:0001542 common peroneal nerve lesion skos:exactMatch SCTID:399107008 semapv:UnspecifiedMatching MONDO:0001542 common peroneal nerve lesion skos:exactMatch UMLS:C0270909 semapv:UnspecifiedMatching MONDO:0001543 lesion of sciatic nerve skos:exactMatch DOID:12528 lesion of sciatic nerve semapv:UnspecifiedMatching MONDO:0001543 lesion of sciatic nerve skos:exactMatch ICD10CM:G57.0 Lesion of sciatic nerve semapv:UnspecifiedMatching MONDO:0001543 lesion of sciatic nerve skos:exactMatch SCTID:367137004 semapv:UnspecifiedMatching MONDO:0001543 lesion of sciatic nerve skos:exactMatch UMLS:C0154748 semapv:UnspecifiedMatching MONDO:0001544 tibial nerve palsy skos:exactMatch DOID:12529 tibial nerve palsy semapv:UnspecifiedMatching MONDO:0001544 tibial nerve palsy skos:exactMatch SCTID:365258000 semapv:UnspecifiedMatching MONDO:0001544 tibial nerve palsy skos:exactMatch UMLS:C0154751 semapv:UnspecifiedMatching MONDO:0001546 hypermobility of coccyx skos:exactMatch DOID:12537 hypermobility of coccyx semapv:UnspecifiedMatching MONDO:0001546 hypermobility of coccyx skos:exactMatch SCTID:202809009 semapv:UnspecifiedMatching MONDO:0001546 hypermobility of coccyx skos:exactMatch UMLS:C0158295 semapv:UnspecifiedMatching MONDO:0001547 atrophic nonflaccid tympanic membrane skos:exactMatch DOID:12546 atrophic nonflaccid tympanic membrane semapv:UnspecifiedMatching MONDO:0001547 atrophic nonflaccid tympanic membrane skos:exactMatch SCTID:72052003 semapv:UnspecifiedMatching MONDO:0001547 atrophic nonflaccid tympanic membrane skos:exactMatch UMLS:C0155471 semapv:UnspecifiedMatching MONDO:0001548 hepatic coma skos:exactMatch DOID:12550 hepatic coma semapv:UnspecifiedMatching MONDO:0001548 hepatic coma skos:exactMatch SCTID:72836002 semapv:UnspecifiedMatching MONDO:0001548 hepatic coma skos:exactMatch UMLS:C0019147 semapv:UnspecifiedMatching MONDO:0001549 hemolytic-uremic syndrome skos:exactMatch DOID:12554 hemolytic-uremic syndrome semapv:UnspecifiedMatching MONDO:0001549 hemolytic-uremic syndrome skos:exactMatch ICD10CM:D59.3 Hemolytic-uremic syndrome semapv:UnspecifiedMatching MONDO:0001549 hemolytic-uremic syndrome skos:exactMatch NCIT:C75545 Hemolytic Uremic Syndrome semapv:UnspecifiedMatching MONDO:0001549 hemolytic-uremic syndrome skos:exactMatch Orphanet:544458 Hemolytic uremic syndrome semapv:UnspecifiedMatching MONDO:0001549 hemolytic-uremic syndrome skos:exactMatch SCTID:111407006 semapv:UnspecifiedMatching MONDO:0001549 hemolytic-uremic syndrome skos:exactMatch UMLS:C0019061 semapv:UnspecifiedMatching MONDO:0001549 hemolytic-uremic syndrome skos:exactMatch mesh:D006463 semapv:UnspecifiedMatching MONDO:0001551 ulceration of vulva skos:exactMatch DOID:12566 ulceration of vulva semapv:UnspecifiedMatching MONDO:0001551 ulceration of vulva skos:exactMatch ICD10CM:N76.6 Ulceration of vulva semapv:UnspecifiedMatching MONDO:0001551 ulceration of vulva skos:exactMatch SCTID:68640004 semapv:UnspecifiedMatching MONDO:0001551 ulceration of vulva skos:exactMatch UMLS:C0156339 semapv:UnspecifiedMatching MONDO:0001552 dyscalculia skos:exactMatch DOID:12568 dyscalculia semapv:UnspecifiedMatching MONDO:0001552 dyscalculia skos:exactMatch NCIT:C97165 Dyscalculia semapv:UnspecifiedMatching MONDO:0001552 dyscalculia skos:exactMatch SCTID:47916000 semapv:UnspecifiedMatching MONDO:0001552 dyscalculia skos:exactMatch mesh:D060705 semapv:UnspecifiedMatching MONDO:0001553 phacolytic glaucoma skos:exactMatch DOID:12570 phacolytic glaucoma semapv:UnspecifiedMatching MONDO:0001553 phacolytic glaucoma skos:exactMatch SCTID:32893002 semapv:UnspecifiedMatching MONDO:0001553 phacolytic glaucoma skos:exactMatch UMLS:C0152137 semapv:UnspecifiedMatching MONDO:0001554 phacogenic glaucoma skos:exactMatch DOID:12571 phacogenic glaucoma semapv:UnspecifiedMatching MONDO:0001554 phacogenic glaucoma skos:exactMatch SCTID:392300000 semapv:UnspecifiedMatching MONDO:0001554 phacogenic glaucoma skos:exactMatch UMLS:C0271142 semapv:UnspecifiedMatching MONDO:0001555 neonatal thyrotoxicosis skos:exactMatch DOID:12573 neonatal thyrotoxicosis semapv:UnspecifiedMatching MONDO:0001555 neonatal thyrotoxicosis skos:exactMatch NCIT:C114906 Neonatal Thyrotoxicosis semapv:UnspecifiedMatching MONDO:0001555 neonatal thyrotoxicosis skos:exactMatch SCTID:13795004 semapv:UnspecifiedMatching MONDO:0001555 neonatal thyrotoxicosis skos:exactMatch UMLS:C0158983 semapv:UnspecifiedMatching MONDO:0001556 urethral obstruction skos:exactMatch DOID:12577 urethral obstruction semapv:UnspecifiedMatching MONDO:0001556 urethral obstruction skos:exactMatch SCTID:95588004 semapv:UnspecifiedMatching MONDO:0001556 urethral obstruction skos:exactMatch UMLS:C0041972 semapv:UnspecifiedMatching MONDO:0001556 urethral obstruction skos:exactMatch mesh:D014524 semapv:UnspecifiedMatching MONDO:0001557 olecranon bursitis skos:exactMatch DOID:12581 olecranon bursitis semapv:UnspecifiedMatching MONDO:0001557 olecranon bursitis skos:exactMatch ICD10CM:M70.2 Olecranon bursitis semapv:UnspecifiedMatching MONDO:0001557 olecranon bursitis skos:exactMatch SCTID:425940002 semapv:UnspecifiedMatching MONDO:0001557 olecranon bursitis skos:exactMatch UMLS:C0263962 semapv:UnspecifiedMatching MONDO:0001558 Potter sequence skos:exactMatch DOID:12594 Potter's syndrome semapv:UnspecifiedMatching MONDO:0001558 Potter sequence skos:exactMatch ICD10CM:Q60.6 Potter's syndrome semapv:UnspecifiedMatching MONDO:0001558 Potter sequence skos:exactMatch NCIT:C40435 Potter Syndrome semapv:UnspecifiedMatching MONDO:0001558 Potter sequence skos:exactMatch SCTID:41962002 semapv:UnspecifiedMatching MONDO:0001558 Potter sequence skos:exactMatch UMLS:C0178426 semapv:UnspecifiedMatching MONDO:0001559 perineocele skos:exactMatch DOID:12637 perineocele semapv:UnspecifiedMatching MONDO:0001559 perineocele skos:exactMatch ICD10CM:N81.81 Perineocele semapv:UnspecifiedMatching MONDO:0001560 hypertrophic pyloric stenosis skos:exactMatch DOID:12638 hypertrophic pyloric stenosis semapv:UnspecifiedMatching MONDO:0001560 hypertrophic pyloric stenosis skos:exactMatch ICD10CM:Q40.0 Congenital hypertrophic pyloric stenosis semapv:UnspecifiedMatching MONDO:0001560 hypertrophic pyloric stenosis skos:exactMatch NCIT:C98952 Hypertrophic Pyloric Stenosis semapv:UnspecifiedMatching MONDO:0001560 hypertrophic pyloric stenosis skos:exactMatch SCTID:48644003 semapv:UnspecifiedMatching MONDO:0001560 hypertrophic pyloric stenosis skos:exactMatch mesh:D046248 semapv:UnspecifiedMatching MONDO:0001561 pyloric stenosis skos:exactMatch DOID:12639 pyloric stenosis semapv:UnspecifiedMatching MONDO:0001561 pyloric stenosis skos:exactMatch DOID:3122 gastric outlet obstruction semapv:UnspecifiedMatching MONDO:0001561 pyloric stenosis skos:exactMatch NCIT:C34966 Pyloric Stenosis semapv:UnspecifiedMatching MONDO:0001561 pyloric stenosis skos:exactMatch SCTID:367403001 semapv:UnspecifiedMatching MONDO:0001561 pyloric stenosis skos:exactMatch mesh:D011707 semapv:UnspecifiedMatching MONDO:0001561 pyloric stenosis skos:exactMatch mesh:D017219 semapv:UnspecifiedMatching MONDO:0001562 displacement of cardia through esophageal hiatus skos:exactMatch DOID:12641 displacement of cardia through esophageal hiatus semapv:UnspecifiedMatching MONDO:0001562 displacement of cardia through esophageal hiatus skos:exactMatch ICD10CM:Q40.1 Congenital hiatus hernia semapv:UnspecifiedMatching MONDO:0001562 displacement of cardia through esophageal hiatus skos:exactMatch SCTID:47028006 semapv:UnspecifiedMatching MONDO:0001563 vestibulocochlear nerve disorder skos:exactMatch DOID:12657 vestibulocochlear nerve disease semapv:UnspecifiedMatching MONDO:0001563 vestibulocochlear nerve disorder skos:exactMatch NCIT:C27207 Vestibulocochlear Nerve Disorder semapv:UnspecifiedMatching MONDO:0001563 vestibulocochlear nerve disorder skos:exactMatch SCTID:77949003 semapv:UnspecifiedMatching MONDO:0001563 vestibulocochlear nerve disorder skos:exactMatch UMLS:C0001163 semapv:UnspecifiedMatching MONDO:0001563 vestibulocochlear nerve disorder skos:exactMatch mesh:D000160 semapv:UnspecifiedMatching MONDO:0001564 binocular vision disease skos:exactMatch DOID:12667 binocular vision disease semapv:UnspecifiedMatching MONDO:0001564 binocular vision disease skos:exactMatch NCIT:C34422 Binocular Vision Disorder semapv:UnspecifiedMatching MONDO:0001564 binocular vision disease skos:exactMatch SCTID:83275001 semapv:UnspecifiedMatching MONDO:0001565 abnormal retinal correspondence skos:exactMatch DOID:12668 abnormal retinal correspondence semapv:UnspecifiedMatching MONDO:0001565 abnormal retinal correspondence skos:exactMatch ICD10CM:H53.31 Abnormal retinal correspondence semapv:UnspecifiedMatching MONDO:0001565 abnormal retinal correspondence skos:exactMatch SCTID:79195003 semapv:UnspecifiedMatching MONDO:0001565 abnormal retinal correspondence skos:exactMatch UMLS:C0155010 semapv:UnspecifiedMatching MONDO:0001566 hypercalcemia disease skos:exactMatch DOID:12678 hypercalcemia semapv:UnspecifiedMatching MONDO:0001566 hypercalcemia disease skos:exactMatch ICD10CM:E83.52 Hypercalcemia semapv:UnspecifiedMatching MONDO:0001566 hypercalcemia disease skos:exactMatch NCIT:C3112 Hypercalcemia semapv:UnspecifiedMatching MONDO:0001566 hypercalcemia disease skos:exactMatch SCTID:66931009 semapv:UnspecifiedMatching MONDO:0001566 hypercalcemia disease skos:exactMatch UMLS:C0020437 semapv:UnspecifiedMatching MONDO:0001566 hypercalcemia disease skos:exactMatch mesh:D006934 semapv:UnspecifiedMatching MONDO:0001567 nephrocalcinosis skos:exactMatch DOID:12679 nephrocalcinosis semapv:UnspecifiedMatching MONDO:0001567 nephrocalcinosis skos:exactMatch NCIT:C84918 Nephrocalcinosis semapv:UnspecifiedMatching MONDO:0001567 nephrocalcinosis skos:exactMatch SCTID:48638002 semapv:UnspecifiedMatching MONDO:0001567 nephrocalcinosis skos:exactMatch UMLS:C0027709 semapv:UnspecifiedMatching MONDO:0001567 nephrocalcinosis skos:exactMatch mesh:D009397 semapv:UnspecifiedMatching MONDO:0001568 mixed receptive-expressive language disorder skos:exactMatch DOID:12685 mixed receptive-expressive language disorder semapv:UnspecifiedMatching MONDO:0001568 mixed receptive-expressive language disorder skos:exactMatch ICD10CM:F80.2 Mixed receptive-expressive language disorder semapv:UnspecifiedMatching MONDO:0001568 mixed receptive-expressive language disorder skos:exactMatch NCIT:C92563 Mixed Receptive-Expressive Language Disorder semapv:UnspecifiedMatching MONDO:0001568 mixed receptive-expressive language disorder skos:exactMatch SCTID:25766007 semapv:UnspecifiedMatching MONDO:0001569 acoustic neuroma skos:exactMatch DOID:12689 acoustic neuroma semapv:UnspecifiedMatching MONDO:0001569 acoustic neuroma skos:exactMatch NCIT:C3276 Vestibular Schwannoma semapv:UnspecifiedMatching MONDO:0001569 acoustic neuroma skos:exactMatch Orphanet:252175 Vestibular schwannoma semapv:UnspecifiedMatching MONDO:0001569 acoustic neuroma skos:exactMatch SCTID:126949007 semapv:UnspecifiedMatching MONDO:0001569 acoustic neuroma skos:exactMatch mesh:D009464 semapv:UnspecifiedMatching MONDO:0001571 gynecomastia disorder skos:exactMatch DOID:12698 gynecomastia semapv:UnspecifiedMatching MONDO:0001571 gynecomastia disorder skos:exactMatch NCIT:C3073 Gynecomastia semapv:UnspecifiedMatching MONDO:0001571 gynecomastia disorder skos:exactMatch SCTID:4754008 semapv:UnspecifiedMatching MONDO:0001571 gynecomastia disorder skos:exactMatch UMLS:C0018418 semapv:UnspecifiedMatching MONDO:0001571 gynecomastia disorder skos:exactMatch mesh:D006177 semapv:UnspecifiedMatching MONDO:0001572 leiomyoma skos:exactMatch DOID:127 leiomyoma semapv:UnspecifiedMatching MONDO:0001572 leiomyoma skos:exactMatch NCIT:C3157 Leiomyoma semapv:UnspecifiedMatching MONDO:0001572 leiomyoma skos:exactMatch SCTID:146801000119103 semapv:UnspecifiedMatching MONDO:0001572 leiomyoma skos:exactMatch UMLS:C0023267 semapv:UnspecifiedMatching MONDO:0001572 leiomyoma skos:exactMatch mesh:D007889 semapv:UnspecifiedMatching MONDO:0001574 capillary disorder skos:exactMatch DOID:1271 capillary disease semapv:UnspecifiedMatching MONDO:0001574 capillary disorder skos:exactMatch SCTID:58729003 semapv:UnspecifiedMatching MONDO:0001574 capillary disorder skos:exactMatch UMLS:C0155765 semapv:UnspecifiedMatching MONDO:0001575 chronic gonococcal salpingitis skos:exactMatch DOID:12718 chronic gonococcal salpingitis semapv:UnspecifiedMatching MONDO:0001575 chronic gonococcal salpingitis skos:exactMatch SCTID:53529004 semapv:UnspecifiedMatching MONDO:0001575 chronic gonococcal salpingitis skos:exactMatch UMLS:C0153208 semapv:UnspecifiedMatching MONDO:0001576 telangiectasis skos:exactMatch DOID:1272 telangiectasis semapv:UnspecifiedMatching MONDO:0001576 telangiectasis skos:exactMatch NCIT:C28194 Telangiectasia semapv:UnspecifiedMatching MONDO:0001576 telangiectasis skos:exactMatch SCTID:247479008 semapv:UnspecifiedMatching MONDO:0001576 telangiectasis skos:exactMatch UMLS:C0039446 semapv:UnspecifiedMatching MONDO:0001576 telangiectasis skos:exactMatch mesh:D013684 semapv:UnspecifiedMatching MONDO:0001577 respiratory syncytial virus infectious disease skos:exactMatch DOID:1273 respiratory syncytial virus infectious disease semapv:UnspecifiedMatching MONDO:0001577 respiratory syncytial virus infectious disease skos:exactMatch NCIT:C3354 Respiratory Syncytial Virus Infection semapv:UnspecifiedMatching MONDO:0001577 respiratory syncytial virus infectious disease skos:exactMatch SCTID:55735004 semapv:UnspecifiedMatching MONDO:0001577 respiratory syncytial virus infectious disease skos:exactMatch UMLS:C0035235 semapv:UnspecifiedMatching MONDO:0001577 respiratory syncytial virus infectious disease skos:exactMatch mesh:D018357 semapv:UnspecifiedMatching MONDO:0001578 obsolete hernia of ovary and fallopian tube skos:exactMatch DOID:12735 hernia of ovary and fallopian tube semapv:UnspecifiedMatching MONDO:0001579 corneal staphyloma skos:exactMatch DOID:12753 corneal staphyloma semapv:UnspecifiedMatching MONDO:0001579 corneal staphyloma skos:exactMatch SCTID:52476003 semapv:UnspecifiedMatching MONDO:0001579 corneal staphyloma skos:exactMatch UMLS:C0152440 semapv:UnspecifiedMatching MONDO:0001580 lacrimal duct cancer skos:exactMatch DOID:12756 lacrimal duct cancer semapv:UnspecifiedMatching MONDO:0001580 lacrimal duct cancer skos:exactMatch NCIT:C3567 Malignant Nasolacrimal Duct Neoplasm semapv:UnspecifiedMatching MONDO:0001580 lacrimal duct cancer skos:exactMatch SCTID:188274004 semapv:UnspecifiedMatching MONDO:0001580 lacrimal duct cancer skos:exactMatch UMLS:C0153631 semapv:UnspecifiedMatching MONDO:0001582 cicatricial ectropion skos:exactMatch DOID:12782 cicatricial ectropion semapv:UnspecifiedMatching MONDO:0001582 cicatricial ectropion skos:exactMatch SCTID:28914006 semapv:UnspecifiedMatching MONDO:0001582 cicatricial ectropion skos:exactMatch UMLS:C0155196 semapv:UnspecifiedMatching MONDO:0001583 diabetic polyneuropathy skos:exactMatch DOID:12785 diabetic polyneuropathy semapv:UnspecifiedMatching MONDO:0001583 diabetic polyneuropathy skos:exactMatch SCTID:49455004 semapv:UnspecifiedMatching MONDO:0001583 diabetic polyneuropathy skos:exactMatch UMLS:C0271680 semapv:UnspecifiedMatching MONDO:0001584 ocular motility disease skos:exactMatch DOID:1279 ocular motility disease semapv:UnspecifiedMatching MONDO:0001584 ocular motility disease skos:exactMatch SCTID:45030009 semapv:UnspecifiedMatching MONDO:0001585 hallucinogen abuse skos:exactMatch DOID:12797 hallucinogen abuse semapv:UnspecifiedMatching MONDO:0001585 hallucinogen abuse skos:exactMatch SCTID:74851005 semapv:UnspecifiedMatching MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch DOID:12802 mucopolysaccharidosis I semapv:UnspecifiedMatching MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch NCIT:C85053 Mucopolysaccharidosis Type I semapv:UnspecifiedMatching MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:UnspecifiedMatching MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch SCTID:75610003 semapv:UnspecifiedMatching MONDO:0001588 chronic lacrimal gland enlargement skos:exactMatch DOID:12809 chronic lacrimal gland enlargement semapv:UnspecifiedMatching MONDO:0001588 chronic lacrimal gland enlargement skos:exactMatch SCTID:4839005 semapv:UnspecifiedMatching MONDO:0001588 chronic lacrimal gland enlargement skos:exactMatch UMLS:C1300133 semapv:UnspecifiedMatching MONDO:0001589 obsolete vaginal enterocele skos:exactMatch DOID:1283 enterocele semapv:UnspecifiedMatching MONDO:0001589 obsolete vaginal enterocele skos:exactMatch SCTID:398061002 semapv:UnspecifiedMatching MONDO:0001590 quadriplegia skos:exactMatch DOID:12835 quadriplegia semapv:UnspecifiedMatching MONDO:0001590 quadriplegia skos:exactMatch NCIT:C50721 Quadriplegia semapv:UnspecifiedMatching MONDO:0001590 quadriplegia skos:exactMatch SCTID:11538006 semapv:UnspecifiedMatching MONDO:0001590 quadriplegia skos:exactMatch UMLS:C0034372 semapv:UnspecifiedMatching MONDO:0001590 quadriplegia skos:exactMatch mesh:D011782 semapv:UnspecifiedMatching MONDO:0001591 senile entropion skos:exactMatch DOID:12836 senile entropion semapv:UnspecifiedMatching MONDO:0001591 senile entropion skos:exactMatch SCTID:55408009 semapv:UnspecifiedMatching MONDO:0001591 senile entropion skos:exactMatch UMLS:C0155188 semapv:UnspecifiedMatching MONDO:0001592 prolapse of female genital organ skos:exactMatch DOID:1284 prolapse of female genital organ semapv:UnspecifiedMatching MONDO:0001592 prolapse of female genital organ skos:exactMatch ICD10CM:N81 Female genital prolapse semapv:UnspecifiedMatching MONDO:0001592 prolapse of female genital organ skos:exactMatch SCTID:73998008 semapv:UnspecifiedMatching MONDO:0001592 prolapse of female genital organ skos:exactMatch UMLS:C0156349 semapv:UnspecifiedMatching MONDO:0001593 rectal disorder skos:exactMatch DOID:1285 rectal disease semapv:UnspecifiedMatching MONDO:0001593 rectal disorder skos:exactMatch SCTID:5964004 semapv:UnspecifiedMatching MONDO:0001593 rectal disorder skos:exactMatch UMLS:C0034882 semapv:UnspecifiedMatching MONDO:0001593 rectal disorder skos:exactMatch mesh:D012002 semapv:UnspecifiedMatching MONDO:0001594 Achilles bursitis skos:exactMatch DOID:12857 Achilles bursitis semapv:UnspecifiedMatching MONDO:0001594 Achilles bursitis skos:exactMatch UMLS:C0149846 semapv:UnspecifiedMatching MONDO:0001595 choreatic disease skos:exactMatch DOID:12859 choreatic disease semapv:UnspecifiedMatching MONDO:0001595 choreatic disease skos:exactMatch NCIT:C84633 Chorea semapv:UnspecifiedMatching MONDO:0001595 choreatic disease skos:exactMatch Orphanet:1429 Benign hereditary chorea semapv:UnspecifiedMatching MONDO:0001595 choreatic disease skos:exactMatch SCTID:230298007 semapv:UnspecifiedMatching MONDO:0001595 choreatic disease skos:exactMatch SCTID:230306001 semapv:UnspecifiedMatching MONDO:0001595 choreatic disease skos:exactMatch mesh:D002819 semapv:UnspecifiedMatching MONDO:0001596 hypochondriasis skos:exactMatch DOID:12883 hypochondriasis semapv:UnspecifiedMatching MONDO:0001596 hypochondriasis skos:exactMatch SCTID:18193002 semapv:UnspecifiedMatching MONDO:0001596 hypochondriasis skos:exactMatch mesh:D006998 semapv:UnspecifiedMatching MONDO:0001597 submandibular gland disorder skos:exactMatch DOID:12897 submandibular gland disease semapv:UnspecifiedMatching MONDO:0001597 submandibular gland disorder skos:exactMatch UMLS:C0038557 semapv:UnspecifiedMatching MONDO:0001597 submandibular gland disorder skos:exactMatch mesh:D013364 semapv:UnspecifiedMatching MONDO:0001598 benign lymphoepithelial lesion of salivary gland skos:exactMatch DOID:12899 benign lymphoepithelial lesion of salivary gland semapv:UnspecifiedMatching MONDO:0001598 benign lymphoepithelial lesion of salivary gland skos:exactMatch NCIT:C3949 Benign Lymphoepithelial Lesion of the Salivary Gland semapv:UnspecifiedMatching MONDO:0001598 benign lymphoepithelial lesion of salivary gland skos:exactMatch SCTID:45517002 semapv:UnspecifiedMatching MONDO:0001598 benign lymphoepithelial lesion of salivary gland skos:exactMatch UMLS:C0266995 semapv:UnspecifiedMatching MONDO:0001600 mucocele of salivary gland skos:exactMatch DOID:12904 mucocele of salivary gland semapv:UnspecifiedMatching MONDO:0001600 mucocele of salivary gland skos:exactMatch ICD10CM:K11.6 Mucocele of salivary gland semapv:UnspecifiedMatching MONDO:0001600 mucocele of salivary gland skos:exactMatch SCTID:69825009 semapv:UnspecifiedMatching MONDO:0001600 mucocele of salivary gland skos:exactMatch UMLS:C0026686 semapv:UnspecifiedMatching MONDO:0001600 mucocele of salivary gland skos:exactMatch mesh:D011900 semapv:UnspecifiedMatching MONDO:0001601 Plasmodium ovale malaria skos:exactMatch DOID:12919 Plasmodium ovale malaria semapv:UnspecifiedMatching MONDO:0001601 Plasmodium ovale malaria skos:exactMatch ICD10CM:B53.0 Plasmodium ovale malaria semapv:UnspecifiedMatching MONDO:0001601 Plasmodium ovale malaria skos:exactMatch SCTID:19341001 semapv:UnspecifiedMatching MONDO:0001601 Plasmodium ovale malaria skos:exactMatch UMLS:C0152072 semapv:UnspecifiedMatching MONDO:0001602 labia minora carcinoma skos:exactMatch DOID:1293 labia minora carcinoma semapv:UnspecifiedMatching MONDO:0001602 labia minora carcinoma skos:exactMatch NCIT:C9364 Labia Minora Carcinoma semapv:UnspecifiedMatching MONDO:0001602 labia minora carcinoma skos:exactMatch UMLS:C1334357 semapv:UnspecifiedMatching MONDO:0001603 paralytic lagophthalmos skos:exactMatch DOID:12958 paralytic lagophthalmos semapv:UnspecifiedMatching MONDO:0001603 paralytic lagophthalmos skos:exactMatch UMLS:C0155197 semapv:UnspecifiedMatching MONDO:0001604 lagophthalmos skos:exactMatch DOID:12959 lagophthalmos semapv:UnspecifiedMatching MONDO:0001604 lagophthalmos skos:exactMatch ICD10CM:H02.2 Lagophthalmos semapv:UnspecifiedMatching MONDO:0001604 lagophthalmos skos:exactMatch SCTID:60735000 semapv:UnspecifiedMatching MONDO:0001604 lagophthalmos skos:exactMatch UMLS:C0152226 semapv:UnspecifiedMatching MONDO:0001606 central nervous system leukemia skos:exactMatch DOID:12969 central nervous system leukemia semapv:UnspecifiedMatching MONDO:0001606 central nervous system leukemia skos:exactMatch NCIT:C5440 Central Nervous System Leukemia semapv:UnspecifiedMatching MONDO:0001606 central nervous system leukemia skos:exactMatch UMLS:C1332884 semapv:UnspecifiedMatching MONDO:0001607 intrapelvic lymph node leukemic reticuloendotheliosis skos:exactMatch DOID:12972 intrapelvic lymph node leukemic reticuloendotheliosis semapv:UnspecifiedMatching MONDO:0001607 intrapelvic lymph node leukemic reticuloendotheliosis skos:exactMatch SCTID:93145002 semapv:UnspecifiedMatching MONDO:0001607 intrapelvic lymph node leukemic reticuloendotheliosis skos:exactMatch UMLS:C0153831 semapv:UnspecifiedMatching MONDO:0001608 vagus nerve neoplasm skos:exactMatch DOID:12984 vagus nerve neoplasm semapv:UnspecifiedMatching MONDO:0001608 vagus nerve neoplasm skos:exactMatch NCIT:C5831 Vagus Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0001608 vagus nerve neoplasm skos:exactMatch SCTID:126976007 semapv:UnspecifiedMatching MONDO:0001608 vagus nerve neoplasm skos:exactMatch UMLS:C1263901 semapv:UnspecifiedMatching MONDO:0001609 agranulocytosis skos:exactMatch DOID:12987 agranulocytosis semapv:UnspecifiedMatching MONDO:0001609 agranulocytosis skos:exactMatch ICD10CM:D70 Neutropenia semapv:UnspecifiedMatching MONDO:0001609 agranulocytosis skos:exactMatch ICD10WHO:D70 Agranulocytosis semapv:UnspecifiedMatching MONDO:0001609 agranulocytosis skos:exactMatch NCIT:C2863 Granulocytopenia semapv:UnspecifiedMatching MONDO:0001609 agranulocytosis skos:exactMatch SCTID:417672002 semapv:UnspecifiedMatching MONDO:0001609 agranulocytosis skos:exactMatch UMLS:C0001824 semapv:UnspecifiedMatching MONDO:0001609 agranulocytosis skos:exactMatch mesh:D000380 semapv:UnspecifiedMatching MONDO:0001610 acute dacryocystitis skos:exactMatch DOID:12996 acute dacryocystitis semapv:UnspecifiedMatching MONDO:0001610 acute dacryocystitis skos:exactMatch SCTID:25470000 semapv:UnspecifiedMatching MONDO:0001610 acute dacryocystitis skos:exactMatch UMLS:C0155237 semapv:UnspecifiedMatching MONDO:0001611 phlegmonous dacryocystitis skos:exactMatch DOID:12997 Phlegmonous dacryocystitis semapv:UnspecifiedMatching MONDO:0001611 phlegmonous dacryocystitis skos:exactMatch ICD10CM:H04.31 Phlegmonous dacryocystitis semapv:UnspecifiedMatching MONDO:0001611 phlegmonous dacryocystitis skos:exactMatch SCTID:64324003 semapv:UnspecifiedMatching MONDO:0001611 phlegmonous dacryocystitis skos:exactMatch UMLS:C0155238 semapv:UnspecifiedMatching MONDO:0001612 carotid stenosis skos:exactMatch DOID:13001 carotid stenosis semapv:UnspecifiedMatching MONDO:0001612 carotid stenosis skos:exactMatch NCIT:C95804 Carotid Artery Stenosis semapv:UnspecifiedMatching MONDO:0001612 carotid stenosis skos:exactMatch SCTID:64586002 semapv:UnspecifiedMatching MONDO:0001612 carotid stenosis skos:exactMatch UMLS:C0007282 semapv:UnspecifiedMatching MONDO:0001612 carotid stenosis skos:exactMatch mesh:D016893 semapv:UnspecifiedMatching MONDO:0001613 vertebrobasilar insufficiency skos:exactMatch DOID:13003 vertebrobasilar insufficiency semapv:UnspecifiedMatching MONDO:0001613 vertebrobasilar insufficiency skos:exactMatch SCTID:195199008 semapv:UnspecifiedMatching MONDO:0001613 vertebrobasilar insufficiency skos:exactMatch UMLS:C0042568 semapv:UnspecifiedMatching MONDO:0001613 vertebrobasilar insufficiency skos:exactMatch mesh:D014715 semapv:UnspecifiedMatching MONDO:0001614 intra-abdominal lymph node mast cell malignancy skos:exactMatch DOID:13005 intra-abdominal lymph node mast cell malignancy semapv:UnspecifiedMatching MONDO:0001614 intra-abdominal lymph node mast cell malignancy skos:exactMatch SCTID:188664008 semapv:UnspecifiedMatching MONDO:0001614 intra-abdominal lymph node mast cell malignancy skos:exactMatch UMLS:C0153844 semapv:UnspecifiedMatching MONDO:0001615 epidemic keratoconjunctivitis skos:exactMatch DOID:13014 shipyard eye semapv:UnspecifiedMatching MONDO:0001615 epidemic keratoconjunctivitis skos:exactMatch NCIT:C34590 Epidemic Keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0001615 epidemic keratoconjunctivitis skos:exactMatch SCTID:60548004 semapv:UnspecifiedMatching MONDO:0001615 epidemic keratoconjunctivitis skos:exactMatch UMLS:C0014493 semapv:UnspecifiedMatching MONDO:0001616 lobomycosis skos:exactMatch DOID:13026 lobomycosis semapv:UnspecifiedMatching MONDO:0001616 lobomycosis skos:exactMatch ICD10CM:B48.0 Lobomycosis semapv:UnspecifiedMatching MONDO:0001616 lobomycosis skos:exactMatch SCTID:47306003 semapv:UnspecifiedMatching MONDO:0001616 lobomycosis skos:exactMatch UMLS:C0152066 semapv:UnspecifiedMatching MONDO:0001616 lobomycosis skos:exactMatch mesh:D060368 semapv:UnspecifiedMatching MONDO:0001617 transient global amnesia skos:exactMatch DOID:13027 transient global amnesia semapv:UnspecifiedMatching MONDO:0001617 transient global amnesia skos:exactMatch ICD10CM:G45.4 Transient global amnesia semapv:UnspecifiedMatching MONDO:0001617 transient global amnesia skos:exactMatch NCIT:C85198 Transient Global Amnesia semapv:UnspecifiedMatching MONDO:0001617 transient global amnesia skos:exactMatch mesh:D020236 semapv:UnspecifiedMatching MONDO:0001618 balanoposthitis skos:exactMatch DOID:13031 balanoposthitis semapv:UnspecifiedMatching MONDO:0001618 balanoposthitis skos:exactMatch ICD10CM:N47.6 Balanoposthitis semapv:UnspecifiedMatching MONDO:0001618 balanoposthitis skos:exactMatch SCTID:46090001 semapv:UnspecifiedMatching MONDO:0001618 balanoposthitis skos:exactMatch UMLS:C0004691 semapv:UnspecifiedMatching MONDO:0001620 louse-borne relapsing fever skos:exactMatch DOID:13035 louse-borne relapsing fever semapv:UnspecifiedMatching MONDO:0001620 louse-borne relapsing fever skos:exactMatch ICD10CM:A68.0 Louse-borne relapsing fever semapv:UnspecifiedMatching MONDO:0001620 louse-borne relapsing fever skos:exactMatch NCIT:C128426 Louse-Borne Relapsing Fever semapv:UnspecifiedMatching MONDO:0001620 louse-borne relapsing fever skos:exactMatch SCTID:14683004 semapv:UnspecifiedMatching MONDO:0001620 louse-borne relapsing fever skos:exactMatch UMLS:C0152061 semapv:UnspecifiedMatching MONDO:0001621 tick-borne relapsing fever skos:exactMatch DOID:13036 tick-borne relapsing fever semapv:UnspecifiedMatching MONDO:0001621 tick-borne relapsing fever skos:exactMatch ICD10CM:A68.1 Tick-borne relapsing fever semapv:UnspecifiedMatching MONDO:0001621 tick-borne relapsing fever skos:exactMatch NCIT:C34976 Tick-Borne Relapsing Fever semapv:UnspecifiedMatching MONDO:0001621 tick-borne relapsing fever skos:exactMatch SCTID:10301003 semapv:UnspecifiedMatching MONDO:0001621 tick-borne relapsing fever skos:exactMatch UMLS:C0035022 semapv:UnspecifiedMatching MONDO:0001622 mechanical lagophthalmos skos:exactMatch DOID:13037 mechanical lagophthalmos semapv:UnspecifiedMatching MONDO:0001622 mechanical lagophthalmos skos:exactMatch ICD10CM:H02.22 Mechanical lagophthalmos semapv:UnspecifiedMatching MONDO:0001622 mechanical lagophthalmos skos:exactMatch SCTID:21783006 semapv:UnspecifiedMatching MONDO:0001622 mechanical lagophthalmos skos:exactMatch UMLS:C0155198 semapv:UnspecifiedMatching MONDO:0001623 cicatricial lagophthalmos skos:exactMatch DOID:13038 cicatricial lagophthalmos semapv:UnspecifiedMatching MONDO:0001623 cicatricial lagophthalmos skos:exactMatch ICD10CM:H02.21 Cicatricial lagophthalmos semapv:UnspecifiedMatching MONDO:0001623 cicatricial lagophthalmos skos:exactMatch UMLS:C0155199 semapv:UnspecifiedMatching MONDO:0001624 acute sphenoidal sinusitis skos:exactMatch DOID:13046 acute sphenoidal sinusitis semapv:UnspecifiedMatching MONDO:0001624 acute sphenoidal sinusitis skos:exactMatch ICD10CM:J01.3 Acute sphenoidal sinusitis semapv:UnspecifiedMatching MONDO:0001624 acute sphenoidal sinusitis skos:exactMatch SCTID:77919000 semapv:UnspecifiedMatching MONDO:0001624 acute sphenoidal sinusitis skos:exactMatch UMLS:C0155807 semapv:UnspecifiedMatching MONDO:0001625 corpus luteum cyst skos:exactMatch DOID:13050 corpus luteum cyst semapv:UnspecifiedMatching MONDO:0001625 corpus luteum cyst skos:exactMatch ICD10CM:N83.1 Corpus luteum cyst semapv:UnspecifiedMatching MONDO:0001625 corpus luteum cyst skos:exactMatch SCTID:386762009 semapv:UnspecifiedMatching MONDO:0001626 traumatic glaucoma skos:exactMatch DOID:13060 traumatic glaucoma semapv:UnspecifiedMatching MONDO:0001626 traumatic glaucoma skos:exactMatch SCTID:68241007 semapv:UnspecifiedMatching MONDO:0001626 traumatic glaucoma skos:exactMatch UMLS:C0339594 semapv:UnspecifiedMatching MONDO:0001627 dementia skos:exactMatch DOID:1307 dementia semapv:UnspecifiedMatching MONDO:0001627 dementia skos:exactMatch NCIT:C4786 Dementia semapv:UnspecifiedMatching MONDO:0001627 dementia skos:exactMatch SCTID:52448006 semapv:UnspecifiedMatching MONDO:0001627 dementia skos:exactMatch mesh:D003704 semapv:UnspecifiedMatching MONDO:0001628 tinea unguium skos:exactMatch DOID:13074 tinea unguium semapv:UnspecifiedMatching MONDO:0001628 tinea unguium skos:exactMatch ICD10CM:B35.1 Tinea unguium semapv:UnspecifiedMatching MONDO:0001628 tinea unguium skos:exactMatch NCIT:C112214 Onychomycosis semapv:UnspecifiedMatching MONDO:0001628 tinea unguium skos:exactMatch UMLS:C0040261 semapv:UnspecifiedMatching MONDO:0001628 tinea unguium skos:exactMatch mesh:D014009 semapv:UnspecifiedMatching MONDO:0001629 Jaccoud syndrome skos:exactMatch DOID:13080 Jaccoud's syndrome semapv:UnspecifiedMatching MONDO:0001629 Jaccoud syndrome skos:exactMatch SCTID:84801008 semapv:UnspecifiedMatching MONDO:0001629 Jaccoud syndrome skos:exactMatch UMLS:C0152084 semapv:UnspecifiedMatching MONDO:0001630 branch retinal artery occlusion skos:exactMatch DOID:13094 branch retinal artery occlusion semapv:UnspecifiedMatching MONDO:0001630 branch retinal artery occlusion skos:exactMatch NCIT:C34436 Retinal Arterial Branch Occlusion semapv:UnspecifiedMatching MONDO:0001630 branch retinal artery occlusion skos:exactMatch SCTID:50821009 semapv:UnspecifiedMatching MONDO:0001630 branch retinal artery occlusion skos:exactMatch UMLS:C0006123 semapv:UnspecifiedMatching MONDO:0001631 vertebral artery insufficiency skos:exactMatch DOID:13095 vertebral artery insufficiency semapv:UnspecifiedMatching MONDO:0001631 vertebral artery insufficiency skos:exactMatch NCIT:C35123 Vertebral Artery Syndrome semapv:UnspecifiedMatching MONDO:0001631 vertebral artery insufficiency skos:exactMatch SCTID:34781003 semapv:UnspecifiedMatching MONDO:0001631 vertebral artery insufficiency skos:exactMatch UMLS:C0042560 semapv:UnspecifiedMatching MONDO:0001632 intracranial arteriosclerosis skos:exactMatch DOID:13097 intracranial arteriosclerosis semapv:UnspecifiedMatching MONDO:0001632 intracranial arteriosclerosis skos:exactMatch UMLS:C0007771 semapv:UnspecifiedMatching MONDO:0001632 intracranial arteriosclerosis skos:exactMatch mesh:D002537 semapv:UnspecifiedMatching MONDO:0001633 central retinal artery occlusion skos:exactMatch DOID:13098 central retinal artery occlusion semapv:UnspecifiedMatching MONDO:0001633 central retinal artery occlusion skos:exactMatch ICD10CM:H34.1 Central retinal artery occlusion semapv:UnspecifiedMatching MONDO:0001633 central retinal artery occlusion skos:exactMatch NCIT:C34456 Central Retinal Artery Occlusion semapv:UnspecifiedMatching MONDO:0001633 central retinal artery occlusion skos:exactMatch SCTID:38742007 semapv:UnspecifiedMatching MONDO:0001633 central retinal artery occlusion skos:exactMatch UMLS:C0007688 semapv:UnspecifiedMatching MONDO:0001634 bladder leiomyoma skos:exactMatch DOID:13109 bladder leiomyoma semapv:UnspecifiedMatching MONDO:0001634 bladder leiomyoma skos:exactMatch NCIT:C6178 Bladder Leiomyoma semapv:UnspecifiedMatching MONDO:0001634 bladder leiomyoma skos:exactMatch UMLS:C1332560 semapv:UnspecifiedMatching MONDO:0001635 bladder squamous papilloma skos:exactMatch DOID:13110 bladder squamous papilloma semapv:UnspecifiedMatching MONDO:0001635 bladder squamous papilloma skos:exactMatch NCIT:C39834 Bladder Squamous Papilloma semapv:UnspecifiedMatching MONDO:0001635 bladder squamous papilloma skos:exactMatch UMLS:C1511199 semapv:UnspecifiedMatching MONDO:0001636 mechanical entropion skos:exactMatch DOID:13112 mechanical entropion semapv:UnspecifiedMatching MONDO:0001636 mechanical entropion skos:exactMatch SCTID:38683003 semapv:UnspecifiedMatching MONDO:0001636 mechanical entropion skos:exactMatch UMLS:C0155189 semapv:UnspecifiedMatching MONDO:0001637 cicatricial entropion skos:exactMatch DOID:13113 cicatricial entropion semapv:UnspecifiedMatching MONDO:0001637 cicatricial entropion skos:exactMatch SCTID:67383002 semapv:UnspecifiedMatching MONDO:0001637 cicatricial entropion skos:exactMatch UMLS:C0155191 semapv:UnspecifiedMatching MONDO:0001638 protein-deficiency anemia skos:exactMatch DOID:13120 protein-deficiency anemia semapv:UnspecifiedMatching MONDO:0001638 protein-deficiency anemia skos:exactMatch ICD10CM:D53.0 Protein deficiency anemia semapv:UnspecifiedMatching MONDO:0001638 protein-deficiency anemia skos:exactMatch SCTID:191156009 semapv:UnspecifiedMatching MONDO:0001638 protein-deficiency anemia skos:exactMatch UMLS:C0154290 semapv:UnspecifiedMatching MONDO:0001639 deficiency anemia skos:exactMatch DOID:13121 deficiency anemia semapv:UnspecifiedMatching MONDO:0001639 deficiency anemia skos:exactMatch SCTID:267513007 semapv:UnspecifiedMatching MONDO:0001639 deficiency anemia skos:exactMatch UMLS:C0041782 semapv:UnspecifiedMatching MONDO:0001640 gonococcal spondylitis skos:exactMatch DOID:13127 gonococcal spondylitis semapv:UnspecifiedMatching MONDO:0001640 gonococcal spondylitis skos:exactMatch SCTID:53664003 semapv:UnspecifiedMatching MONDO:0001640 gonococcal spondylitis skos:exactMatch UMLS:C0153219 semapv:UnspecifiedMatching MONDO:0001641 severe pre-eclampsia skos:exactMatch DOID:13129 severe pre-eclampsia semapv:UnspecifiedMatching MONDO:0001641 severe pre-eclampsia skos:exactMatch NCIT:C112843 Severe Preeclampsia semapv:UnspecifiedMatching MONDO:0001642 hordeolum externum skos:exactMatch DOID:13134 hordeolum externum semapv:UnspecifiedMatching MONDO:0001642 hordeolum externum skos:exactMatch SCTID:1489008 semapv:UnspecifiedMatching MONDO:0001642 hordeolum externum skos:exactMatch UMLS:C0019919 semapv:UnspecifiedMatching MONDO:0001643 exophthalmic ophthalmoplegia skos:exactMatch DOID:13135 exophthalmic ophthalmoplegia semapv:UnspecifiedMatching MONDO:0001643 exophthalmic ophthalmoplegia skos:exactMatch SCTID:69763009 semapv:UnspecifiedMatching MONDO:0001643 exophthalmic ophthalmoplegia skos:exactMatch UMLS:C0152135 semapv:UnspecifiedMatching MONDO:0001644 acute proliferative glomerulonephritis skos:exactMatch DOID:13138 acute proliferative glomerulonephritis semapv:UnspecifiedMatching MONDO:0001644 acute proliferative glomerulonephritis skos:exactMatch NCIT:C35443 Post-Streptococcal Glomerulonephritis semapv:UnspecifiedMatching MONDO:0001644 acute proliferative glomerulonephritis skos:exactMatch SCTID:197579006 semapv:UnspecifiedMatching MONDO:0001644 acute proliferative glomerulonephritis skos:exactMatch UMLS:C0341692 semapv:UnspecifiedMatching MONDO:0001645 crescentic glomerulonephritis skos:exactMatch DOID:13139 crescentic glomerulonephritis semapv:UnspecifiedMatching MONDO:0001645 crescentic glomerulonephritis skos:exactMatch NCIT:C35444 Crescentic Glomerulonephritis semapv:UnspecifiedMatching MONDO:0001645 crescentic glomerulonephritis skos:exactMatch SCTID:236398000 semapv:UnspecifiedMatching MONDO:0001646 benign secondary hypertension skos:exactMatch DOID:13143 benign secondary hypertension semapv:UnspecifiedMatching MONDO:0001646 benign secondary hypertension skos:exactMatch SCTID:194785008 semapv:UnspecifiedMatching MONDO:0001646 benign secondary hypertension skos:exactMatch UMLS:C0155620 semapv:UnspecifiedMatching MONDO:0001647 benign renovascular hypertension skos:exactMatch DOID:13145 benign renovascular hypertension semapv:UnspecifiedMatching MONDO:0001648 esophageal candidiasis skos:exactMatch DOID:13146 esophageal candidiasis semapv:UnspecifiedMatching MONDO:0001648 esophageal candidiasis skos:exactMatch ICD10CM:B37.81 Candidal esophagitis semapv:UnspecifiedMatching MONDO:0001648 esophageal candidiasis skos:exactMatch NCIT:C27027 Candida Esophagitis semapv:UnspecifiedMatching MONDO:0001648 esophageal candidiasis skos:exactMatch SCTID:20639004 semapv:UnspecifiedMatching MONDO:0001648 esophageal candidiasis skos:exactMatch UMLS:C0239295 semapv:UnspecifiedMatching MONDO:0001649 fungal esophagitis skos:exactMatch DOID:13147 fungal esophagitis semapv:UnspecifiedMatching MONDO:0001649 fungal esophagitis skos:exactMatch NCIT:C27107 Fungal Esophagitis semapv:UnspecifiedMatching MONDO:0001649 fungal esophagitis skos:exactMatch SCTID:235602008 semapv:UnspecifiedMatching MONDO:0001649 fungal esophagitis skos:exactMatch UMLS:C0341109 semapv:UnspecifiedMatching MONDO:0001650 acute cystitis skos:exactMatch DOID:13148 acute cystitis semapv:UnspecifiedMatching MONDO:0001650 acute cystitis skos:exactMatch ICD10CM:N30.0 Acute cystitis semapv:UnspecifiedMatching MONDO:0001650 acute cystitis skos:exactMatch NCIT:C26934 Acute Cystitis semapv:UnspecifiedMatching MONDO:0001650 acute cystitis skos:exactMatch SCTID:68226007 semapv:UnspecifiedMatching MONDO:0001650 acute cystitis skos:exactMatch UMLS:C0149523 semapv:UnspecifiedMatching MONDO:0001651 scrotum squamous cell carcinoma skos:exactMatch DOID:13159 scrotum squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0001651 scrotum squamous cell carcinoma skos:exactMatch NCIT:C4643 Scrotal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0001651 scrotum squamous cell carcinoma skos:exactMatch SCTID:276860003 semapv:UnspecifiedMatching MONDO:0001651 scrotum squamous cell carcinoma skos:exactMatch UMLS:C0349551 semapv:UnspecifiedMatching MONDO:0001652 scrotum melanoma skos:exactMatch DOID:13160 scrotum melanoma semapv:UnspecifiedMatching MONDO:0001652 scrotum melanoma skos:exactMatch NCIT:C7361 Scrotal Melanoma semapv:UnspecifiedMatching MONDO:0001652 scrotum melanoma skos:exactMatch UMLS:C1331544 semapv:UnspecifiedMatching MONDO:0001653 prepuce cancer skos:exactMatch DOID:13168 prepuce cancer semapv:UnspecifiedMatching MONDO:0001653 prepuce cancer skos:exactMatch SCTID:363450006 semapv:UnspecifiedMatching MONDO:0001653 prepuce cancer skos:exactMatch UMLS:C0153598 semapv:UnspecifiedMatching MONDO:0001654 spermatic cord cancer skos:exactMatch DOID:13169 spermatic cord cancer semapv:UnspecifiedMatching MONDO:0001654 spermatic cord cancer skos:exactMatch NCIT:C3559 Malignant Spermatic Cord Neoplasm semapv:UnspecifiedMatching MONDO:0001654 spermatic cord cancer skos:exactMatch SCTID:363453008 semapv:UnspecifiedMatching MONDO:0001654 spermatic cord cancer skos:exactMatch UMLS:C0153603 semapv:UnspecifiedMatching MONDO:0001655 dissociated nystagmus skos:exactMatch DOID:13174 dissociated nystagmus semapv:UnspecifiedMatching MONDO:0001655 dissociated nystagmus skos:exactMatch ICD10CM:H55.04 Dissociated nystagmus semapv:UnspecifiedMatching MONDO:0001655 dissociated nystagmus skos:exactMatch SCTID:9520006 semapv:UnspecifiedMatching MONDO:0001655 dissociated nystagmus skos:exactMatch UMLS:C0155380 semapv:UnspecifiedMatching MONDO:0001656 megaesophagus skos:exactMatch DOID:13186 megaesophagus semapv:UnspecifiedMatching MONDO:0001656 megaesophagus skos:exactMatch NCIT:C34811 Megaesophagus semapv:UnspecifiedMatching MONDO:0001656 megaesophagus skos:exactMatch SCTID:70667005 semapv:UnspecifiedMatching MONDO:0001656 megaesophagus skos:exactMatch UMLS:C0025164 semapv:UnspecifiedMatching MONDO:0001657 brain cancer skos:exactMatch DOID:1319 brain cancer semapv:UnspecifiedMatching MONDO:0001657 brain cancer skos:exactMatch NCIT:C3568 Malignant Brain Neoplasm semapv:UnspecifiedMatching MONDO:0001657 brain cancer skos:exactMatch SCTID:428061005 semapv:UnspecifiedMatching MONDO:0001657 brain cancer skos:exactMatch mesh:D001932 semapv:UnspecifiedMatching MONDO:0001658 nontoxic goiter skos:exactMatch DOID:13195 nontoxic goiter semapv:UnspecifiedMatching MONDO:0001658 nontoxic goiter skos:exactMatch NCIT:C35271 Nontoxic Goiter semapv:UnspecifiedMatching MONDO:0001658 nontoxic goiter skos:exactMatch UMLS:C0221777 semapv:UnspecifiedMatching MONDO:0001660 proliferative diabetic retinopathy skos:exactMatch DOID:13207 proliferative diabetic retinopathy semapv:UnspecifiedMatching MONDO:0001660 proliferative diabetic retinopathy skos:exactMatch NCIT:C84457 Proliferative Diabetic Retinopathy semapv:UnspecifiedMatching MONDO:0001660 proliferative diabetic retinopathy skos:exactMatch SCTID:59276001 semapv:UnspecifiedMatching MONDO:0001660 proliferative diabetic retinopathy skos:exactMatch UMLS:C0154830 semapv:UnspecifiedMatching MONDO:0001661 background diabetic retinopathy skos:exactMatch DOID:13208 background diabetic retinopathy semapv:UnspecifiedMatching MONDO:0001661 background diabetic retinopathy skos:exactMatch NCIT:C35668 Non-Proliferative Diabetic Retinopathy semapv:UnspecifiedMatching MONDO:0001661 background diabetic retinopathy skos:exactMatch SCTID:390834004 semapv:UnspecifiedMatching MONDO:0001661 background diabetic retinopathy skos:exactMatch UMLS:C0004606 semapv:UnspecifiedMatching MONDO:0001662 obsolete right bundle branch block skos:exactMatch DOID:13209 right bundle branch block semapv:UnspecifiedMatching MONDO:0001662 obsolete right bundle branch block skos:exactMatch SCTID:59118001 semapv:UnspecifiedMatching MONDO:0001663 hole retinal cyst skos:exactMatch DOID:13214 hole retinal cyst semapv:UnspecifiedMatching MONDO:0001663 hole retinal cyst skos:exactMatch SCTID:1079004 semapv:UnspecifiedMatching MONDO:0001663 hole retinal cyst skos:exactMatch UMLS:C1261331 semapv:UnspecifiedMatching MONDO:0001664 submucous uterine fibroid skos:exactMatch DOID:13222 submucous uterine fibroid semapv:UnspecifiedMatching MONDO:0001664 submucous uterine fibroid skos:exactMatch ICD10CM:D25.0 Submucous leiomyoma of uterus semapv:UnspecifiedMatching MONDO:0001664 submucous uterine fibroid skos:exactMatch SCTID:95279007 semapv:UnspecifiedMatching MONDO:0001664 submucous uterine fibroid skos:exactMatch UMLS:C0153993 semapv:UnspecifiedMatching MONDO:0001665 oculoglandular tularemia skos:exactMatch DOID:13226 oculoglandular tularemia semapv:UnspecifiedMatching MONDO:0001665 oculoglandular tularemia skos:exactMatch ICD10CM:A21.1 Oculoglandular tularemia semapv:UnspecifiedMatching MONDO:0001665 oculoglandular tularemia skos:exactMatch SCTID:73363000 semapv:UnspecifiedMatching MONDO:0001665 oculoglandular tularemia skos:exactMatch UMLS:C0152944 semapv:UnspecifiedMatching MONDO:0001666 retinal dystrophies primarily involving Bruch's membrane skos:exactMatch DOID:13227 retinal dystrophies primarily involving Bruch's membrane semapv:UnspecifiedMatching MONDO:0001667 streptobacillus infectious disease skos:exactMatch SCTID:721738002 semapv:UnspecifiedMatching MONDO:0001667 streptobacillus infectious disease skos:exactMatch UMLS:C0947939 semapv:UnspecifiedMatching MONDO:0001668 internal pathological resorption of tooth skos:exactMatch DOID:13239 internal pathological resorption semapv:UnspecifiedMatching MONDO:0001668 internal pathological resorption of tooth skos:exactMatch SCTID:52994003 semapv:UnspecifiedMatching MONDO:0001670 tooth resorption skos:exactMatch DOID:13240 tooth resorption semapv:UnspecifiedMatching MONDO:0001670 tooth resorption skos:exactMatch SCTID:70931000 semapv:UnspecifiedMatching MONDO:0001670 tooth resorption skos:exactMatch UMLS:C0040451 semapv:UnspecifiedMatching MONDO:0001670 tooth resorption skos:exactMatch mesh:D014091 semapv:UnspecifiedMatching MONDO:0001671 mucocele of appendix skos:exactMatch DOID:13248 mucocele of appendix semapv:UnspecifiedMatching MONDO:0001671 mucocele of appendix skos:exactMatch NCIT:C3241 Mucocele of the Appendix semapv:UnspecifiedMatching MONDO:0001671 mucocele of appendix skos:exactMatch SCTID:53773002 semapv:UnspecifiedMatching MONDO:0001671 mucocele of appendix skos:exactMatch UMLS:C0026684 semapv:UnspecifiedMatching MONDO:0001672 bronchus cancer skos:exactMatch DOID:1325 bronchus cancer semapv:UnspecifiedMatching MONDO:0001672 bronchus cancer skos:exactMatch SCTID:363493006 semapv:UnspecifiedMatching MONDO:0001673 diarrheal disease skos:exactMatch DOID:13250 diarrhea semapv:UnspecifiedMatching MONDO:0001673 diarrheal disease skos:exactMatch NCIT:C2987 Diarrhea semapv:UnspecifiedMatching MONDO:0001673 diarrheal disease skos:exactMatch SCTID:128333008 semapv:UnspecifiedMatching MONDO:0001673 diarrheal disease skos:exactMatch mesh:D003967 semapv:UnspecifiedMatching MONDO:0001674 diverticulitis of colon skos:exactMatch DOID:13254 diverticulitis of colon semapv:UnspecifiedMatching MONDO:0001674 diverticulitis of colon skos:exactMatch SCTID:111359004 semapv:UnspecifiedMatching MONDO:0001674 diverticulitis of colon skos:exactMatch UMLS:C0012814 semapv:UnspecifiedMatching MONDO:0001674 diverticulitis of colon skos:exactMatch mesh:D004239 semapv:UnspecifiedMatching MONDO:0001676 erythropoietic protoporphyria skos:exactMatch DOID:13270 erythropoietic protoporphyria semapv:UnspecifiedMatching MONDO:0001676 erythropoietic protoporphyria skos:exactMatch OMIMPS:177000 semapv:UnspecifiedMatching MONDO:0001676 erythropoietic protoporphyria skos:exactMatch SCTID:51022005 semapv:UnspecifiedMatching MONDO:0001676 erythropoietic protoporphyria skos:exactMatch mesh:D046351 semapv:UnspecifiedMatching MONDO:0001678 intestinal tuberculosis skos:exactMatch DOID:13282 intestinal tuberculosis semapv:UnspecifiedMatching MONDO:0001678 intestinal tuberculosis skos:exactMatch SCTID:60136008 semapv:UnspecifiedMatching MONDO:0001678 intestinal tuberculosis skos:exactMatch UMLS:C0275911 semapv:UnspecifiedMatching MONDO:0001679 obsolete crater-like holes of optic disk skos:exactMatch DOID:13295 crater-like holes of optic disc semapv:UnspecifiedMatching MONDO:0001680 vaginal mullerian papilloma skos:exactMatch DOID:133 vaginal Mullerian papilloma semapv:UnspecifiedMatching MONDO:0001680 vaginal mullerian papilloma skos:exactMatch NCIT:C40255 Vaginal Mullerian Papilloma semapv:UnspecifiedMatching MONDO:0001680 vaginal mullerian papilloma skos:exactMatch UMLS:C1519926 semapv:UnspecifiedMatching MONDO:0001681 diphtheritic cystitis skos:exactMatch DOID:13306 diphtheritic cystitis semapv:UnspecifiedMatching MONDO:0001681 diphtheritic cystitis skos:exactMatch ICD10CM:A36.85 Diphtheritic cystitis semapv:UnspecifiedMatching MONDO:0001681 diphtheritic cystitis skos:exactMatch SCTID:48278001 semapv:UnspecifiedMatching MONDO:0001681 diphtheritic cystitis skos:exactMatch UMLS:C0152954 semapv:UnspecifiedMatching MONDO:0001682 diphtheritic peritonitis skos:exactMatch DOID:13310 diphtheritic peritonitis semapv:UnspecifiedMatching MONDO:0001682 diphtheritic peritonitis skos:exactMatch SCTID:13596001 semapv:UnspecifiedMatching MONDO:0001682 diphtheritic peritonitis skos:exactMatch UMLS:C0152953 semapv:UnspecifiedMatching MONDO:0001683 pancreatic mucinous ductal ectasia skos:exactMatch DOID:13313 pancreatic mucinous ductal ectasia semapv:UnspecifiedMatching MONDO:0001683 pancreatic mucinous ductal ectasia skos:exactMatch NCIT:C5717 Pancreatic Mucinous Ductal Ectasia semapv:UnspecifiedMatching MONDO:0001683 pancreatic mucinous ductal ectasia skos:exactMatch UMLS:C1335310 semapv:UnspecifiedMatching MONDO:0001684 exocrine pancreatic insufficiency skos:exactMatch DOID:13316 exocrine pancreatic insufficiency semapv:UnspecifiedMatching MONDO:0001684 exocrine pancreatic insufficiency skos:exactMatch ICD10CM:K86.81 Exocrine pancreatic insufficiency semapv:UnspecifiedMatching MONDO:0001684 exocrine pancreatic insufficiency skos:exactMatch NCIT:C84316 Pancreatic Insufficiency semapv:UnspecifiedMatching MONDO:0001684 exocrine pancreatic insufficiency skos:exactMatch SCTID:47367009 semapv:UnspecifiedMatching MONDO:0001684 exocrine pancreatic insufficiency skos:exactMatch UMLS:C0267963 semapv:UnspecifiedMatching MONDO:0001684 exocrine pancreatic insufficiency skos:exactMatch mesh:D010188 semapv:UnspecifiedMatching MONDO:0001685 chronic follicular conjunctivitis skos:exactMatch DOID:13326 chronic follicular conjunctivitis semapv:UnspecifiedMatching MONDO:0001685 chronic follicular conjunctivitis skos:exactMatch SCTID:39429002 semapv:UnspecifiedMatching MONDO:0001685 chronic follicular conjunctivitis skos:exactMatch UMLS:C0155147 semapv:UnspecifiedMatching MONDO:0001686 anatomical narrow angle borderline glaucoma skos:exactMatch DOID:13327 anatomical narrow angle borderline glaucoma semapv:UnspecifiedMatching MONDO:0001687 diabetic cataract skos:exactMatch DOID:13328 diabetic cataract semapv:UnspecifiedMatching MONDO:0001687 diabetic cataract skos:exactMatch SCTID:43959009 semapv:UnspecifiedMatching MONDO:0001687 diabetic cataract skos:exactMatch UMLS:C0011876 semapv:UnspecifiedMatching MONDO:0001688 toxic optic neuropathy skos:exactMatch DOID:13329 toxic optic neuropathy semapv:UnspecifiedMatching MONDO:0001688 toxic optic neuropathy skos:exactMatch ICD10CM:H46.3 Toxic optic neuropathy semapv:UnspecifiedMatching MONDO:0001688 toxic optic neuropathy skos:exactMatch SCTID:26125006 semapv:UnspecifiedMatching MONDO:0001688 toxic optic neuropathy skos:exactMatch UMLS:C0155303 semapv:UnspecifiedMatching MONDO:0001688 toxic optic neuropathy skos:exactMatch mesh:D000081028 semapv:UnspecifiedMatching MONDO:0001689 hypertrophy of tongue papillae skos:exactMatch DOID:13333 hypertrophy of tongue papillae semapv:UnspecifiedMatching MONDO:0001689 hypertrophy of tongue papillae skos:exactMatch ICD10CM:K14.3 Hypertrophy of tongue papillae semapv:UnspecifiedMatching MONDO:0001689 hypertrophy of tongue papillae skos:exactMatch SCTID:6971002 semapv:UnspecifiedMatching MONDO:0001689 hypertrophy of tongue papillae skos:exactMatch UMLS:C0392494 semapv:UnspecifiedMatching MONDO:0001690 parasitic conjunctivitis skos:exactMatch DOID:13341 parasitic conjunctivitis semapv:UnspecifiedMatching MONDO:0001690 parasitic conjunctivitis skos:exactMatch SCTID:13816006 semapv:UnspecifiedMatching MONDO:0001690 parasitic conjunctivitis skos:exactMatch UMLS:C0155148 semapv:UnspecifiedMatching MONDO:0001691 laryngeal cartilage cancer skos:exactMatch DOID:13348 laryngeal cartilage cancer semapv:UnspecifiedMatching MONDO:0001691 laryngeal cartilage cancer skos:exactMatch SCTID:363431006 semapv:UnspecifiedMatching MONDO:0001691 laryngeal cartilage cancer skos:exactMatch UMLS:C0153486 semapv:UnspecifiedMatching MONDO:0001692 pedophilia skos:exactMatch DOID:13351 pedophilia semapv:UnspecifiedMatching MONDO:0001692 pedophilia skos:exactMatch ICD10CM:F65.4 Pedophilia semapv:UnspecifiedMatching MONDO:0001692 pedophilia skos:exactMatch NCIT:C94355 Pedophilia semapv:UnspecifiedMatching MONDO:0001692 pedophilia skos:exactMatch SCTID:84002002 semapv:UnspecifiedMatching MONDO:0001692 pedophilia skos:exactMatch mesh:D010378 semapv:UnspecifiedMatching MONDO:0001693 obsolete ego-dystonic sexual orientation skos:exactMatch DOID:13352 ego-dystonic sexual orientation semapv:UnspecifiedMatching MONDO:0001694 diffuse interstitial keratitis skos:exactMatch DOID:13353 diffuse interstitial keratitis semapv:UnspecifiedMatching MONDO:0001694 diffuse interstitial keratitis skos:exactMatch SCTID:17157001 semapv:UnspecifiedMatching MONDO:0001694 diffuse interstitial keratitis skos:exactMatch UMLS:C0155089 semapv:UnspecifiedMatching MONDO:0001695 senile ectropion skos:exactMatch DOID:13356 senile ectropion semapv:UnspecifiedMatching MONDO:0001695 senile ectropion skos:exactMatch SCTID:71659009 semapv:UnspecifiedMatching MONDO:0001695 senile ectropion skos:exactMatch UMLS:C0155193 semapv:UnspecifiedMatching MONDO:0001697 reading disorder skos:exactMatch DOID:13365 reading disorder semapv:UnspecifiedMatching MONDO:0001697 reading disorder skos:exactMatch SCTID:52824009 semapv:UnspecifiedMatching MONDO:0001698 tinea profunda skos:exactMatch DOID:13368 tinea profunda semapv:UnspecifiedMatching MONDO:0001698 tinea profunda skos:exactMatch SCTID:214600002 semapv:UnspecifiedMatching MONDO:0001698 tinea profunda skos:exactMatch UMLS:C1279621 semapv:UnspecifiedMatching MONDO:0001699 tinea manuum skos:exactMatch DOID:13369 tinea manuum semapv:UnspecifiedMatching MONDO:0001699 tinea manuum skos:exactMatch ICD10CM:B35.2 Tinea manuum semapv:UnspecifiedMatching MONDO:0001699 tinea manuum skos:exactMatch SCTID:48971001 semapv:UnspecifiedMatching MONDO:0001699 tinea manuum skos:exactMatch UMLS:C0153246 semapv:UnspecifiedMatching MONDO:0001700 megaloblastic anemia skos:exactMatch DOID:13382 megaloblastic anemia semapv:UnspecifiedMatching MONDO:0001700 megaloblastic anemia skos:exactMatch NCIT:C34382 Megaloblastic Anemia semapv:UnspecifiedMatching MONDO:0001700 megaloblastic anemia skos:exactMatch SCTID:53165003 semapv:UnspecifiedMatching MONDO:0001700 megaloblastic anemia skos:exactMatch UMLS:C0002888 semapv:UnspecifiedMatching MONDO:0001701 gastrointestinal anthrax skos:exactMatch DOID:13386 gastrointestinal anthrax semapv:UnspecifiedMatching MONDO:0001701 gastrointestinal anthrax skos:exactMatch ICD10CM:A22.2 Gastrointestinal anthrax semapv:UnspecifiedMatching MONDO:0001701 gastrointestinal anthrax skos:exactMatch SCTID:111798006 semapv:UnspecifiedMatching MONDO:0001701 gastrointestinal anthrax skos:exactMatch UMLS:C0152945 semapv:UnspecifiedMatching MONDO:0001701 gastrointestinal anthrax skos:exactMatch mesh:C571911 semapv:UnspecifiedMatching MONDO:0001702 labia majora carcinoma skos:exactMatch DOID:13389 labia majora carcinoma semapv:UnspecifiedMatching MONDO:0001702 labia majora carcinoma skos:exactMatch NCIT:C9363 Labia Majora Carcinoma semapv:UnspecifiedMatching MONDO:0001702 labia majora carcinoma skos:exactMatch UMLS:C1334356 semapv:UnspecifiedMatching MONDO:0001703 color vision disorder skos:exactMatch DOID:13399 color blindness semapv:UnspecifiedMatching MONDO:0001703 color vision disorder skos:exactMatch NCIT:C3891 Color Blindness semapv:UnspecifiedMatching MONDO:0001703 color vision disorder skos:exactMatch Orphanet:98658 Color-vision disease semapv:UnspecifiedMatching MONDO:0001703 color vision disorder skos:exactMatch SCTID:193683001 semapv:UnspecifiedMatching MONDO:0001703 color vision disorder skos:exactMatch UMLS:CN207064 semapv:UnspecifiedMatching MONDO:0001704 vaginal glandular neoplasm skos:exactMatch DOID:134 vaginal glandular tumor semapv:UnspecifiedMatching MONDO:0001704 vaginal glandular neoplasm skos:exactMatch NCIT:C40250 Vaginal Glandular Neoplasm semapv:UnspecifiedMatching MONDO:0001704 vaginal glandular neoplasm skos:exactMatch UMLS:C1519921 semapv:UnspecifiedMatching MONDO:0001705 pure red-cell aplasia skos:exactMatch DOID:1340 pure red-cell aplasia semapv:UnspecifiedMatching MONDO:0001705 pure red-cell aplasia skos:exactMatch NCIT:C34974 Pure Red Cell Aplasia semapv:UnspecifiedMatching MONDO:0001705 pure red-cell aplasia skos:exactMatch SCTID:50715003 semapv:UnspecifiedMatching MONDO:0001705 pure red-cell aplasia skos:exactMatch UMLS:C0034902 semapv:UnspecifiedMatching MONDO:0001705 pure red-cell aplasia skos:exactMatch mesh:D012010 semapv:UnspecifiedMatching MONDO:0001706 cerebral sarcoidosis skos:exactMatch DOID:13403 neurosarcoidosis semapv:UnspecifiedMatching MONDO:0001706 cerebral sarcoidosis skos:exactMatch NCIT:C35441 Cerebral Sarcoidosis semapv:UnspecifiedMatching MONDO:0001706 cerebral sarcoidosis skos:exactMatch SCTID:111936002 semapv:UnspecifiedMatching MONDO:0001706 cerebral sarcoidosis skos:exactMatch UMLS:C0398676 semapv:UnspecifiedMatching MONDO:0001707 cardiac sarcoidosis skos:exactMatch DOID:13405 cardiac sarcoidosis semapv:UnspecifiedMatching MONDO:0001707 cardiac sarcoidosis skos:exactMatch NCIT:C35589 Cardiac Sarcoidosis semapv:UnspecifiedMatching MONDO:0001707 cardiac sarcoidosis skos:exactMatch SCTID:75403004 semapv:UnspecifiedMatching MONDO:0001707 cardiac sarcoidosis skos:exactMatch UMLS:C0392077 semapv:UnspecifiedMatching MONDO:0001708 pulmonary sarcoidosis skos:exactMatch DOID:13406 pulmonary sarcoidosis semapv:UnspecifiedMatching MONDO:0001708 pulmonary sarcoidosis skos:exactMatch NCIT:C34997 Pulmonary Sarcoidosis semapv:UnspecifiedMatching MONDO:0001708 pulmonary sarcoidosis skos:exactMatch SCTID:24369008 semapv:UnspecifiedMatching MONDO:0001708 pulmonary sarcoidosis skos:exactMatch UMLS:C0036205 semapv:UnspecifiedMatching MONDO:0001708 pulmonary sarcoidosis skos:exactMatch mesh:D017565 semapv:UnspecifiedMatching MONDO:0001709 hypercalcemic sarcoidosis skos:exactMatch DOID:13407 hypercalcemic sarcoidosis semapv:UnspecifiedMatching MONDO:0001709 hypercalcemic sarcoidosis skos:exactMatch NCIT:C35807 Hypercalcemic Sarcoidosis semapv:UnspecifiedMatching MONDO:0001709 hypercalcemic sarcoidosis skos:exactMatch UMLS:C1334067 semapv:UnspecifiedMatching MONDO:0001710 perforation of bile duct skos:exactMatch DOID:13409 perforation of bile duct semapv:UnspecifiedMatching MONDO:0001710 perforation of bile duct skos:exactMatch ICD10CM:K83.2 Perforation of bile duct semapv:UnspecifiedMatching MONDO:0001710 perforation of bile duct skos:exactMatch SCTID:37439003 semapv:UnspecifiedMatching MONDO:0001710 perforation of bile duct skos:exactMatch UMLS:C0156218 semapv:UnspecifiedMatching MONDO:0001711 hepatic encephalopathy skos:exactMatch DOID:13413 hepatic encephalopathy semapv:UnspecifiedMatching MONDO:0001711 hepatic encephalopathy skos:exactMatch NCIT:C79596 Hepatic Encephalopathy semapv:UnspecifiedMatching MONDO:0001711 hepatic encephalopathy skos:exactMatch SCTID:13920009 semapv:UnspecifiedMatching MONDO:0001711 hepatic encephalopathy skos:exactMatch UMLS:C0019151 semapv:UnspecifiedMatching MONDO:0001711 hepatic encephalopathy skos:exactMatch mesh:D006501 semapv:UnspecifiedMatching MONDO:0001712 alexia skos:exactMatch DOID:13417 alexia semapv:UnspecifiedMatching MONDO:0001712 alexia skos:exactMatch mesh:D004411 semapv:UnspecifiedMatching MONDO:0001713 inherited aplastic anemia skos:exactMatch DOID:1342 congenital hypoplastic anemia semapv:UnspecifiedMatching MONDO:0001713 inherited aplastic anemia skos:exactMatch ICD10CM:D61.0 Constitutional aplastic anemia semapv:UnspecifiedMatching MONDO:0001713 inherited aplastic anemia skos:exactMatch Orphanet:68383 Rare constitutional aplastic anemia semapv:UnspecifiedMatching MONDO:0001713 inherited aplastic anemia skos:exactMatch SCTID:28975000 semapv:UnspecifiedMatching MONDO:0001713 inherited aplastic anemia skos:exactMatch mesh:D029502 semapv:UnspecifiedMatching MONDO:0001714 bejel skos:exactMatch DOID:13431 bejel semapv:UnspecifiedMatching MONDO:0001714 bejel skos:exactMatch UMLS:C0004945 semapv:UnspecifiedMatching MONDO:0001715 basilar artery occlusion skos:exactMatch DOID:13446 basilar artery occlusion semapv:UnspecifiedMatching MONDO:0001715 basilar artery occlusion skos:exactMatch SCTID:195180004 semapv:UnspecifiedMatching MONDO:0001716 corneal argyrosis skos:exactMatch DOID:13447 corneal argyrosis semapv:UnspecifiedMatching MONDO:0001716 corneal argyrosis skos:exactMatch SCTID:21328003 semapv:UnspecifiedMatching MONDO:0001716 corneal argyrosis skos:exactMatch UMLS:C0155108 semapv:UnspecifiedMatching MONDO:0001717 posterior corneal pigmentation skos:exactMatch DOID:13448 posterior corneal pigmentation semapv:UnspecifiedMatching MONDO:0001717 posterior corneal pigmentation skos:exactMatch SCTID:267639001 semapv:UnspecifiedMatching MONDO:0001717 posterior corneal pigmentation skos:exactMatch UMLS:C0155106 semapv:UnspecifiedMatching MONDO:0001718 scleritis skos:exactMatch DOID:13452 scleritis semapv:UnspecifiedMatching MONDO:0001718 scleritis skos:exactMatch NCIT:C119046 Scleritis semapv:UnspecifiedMatching MONDO:0001718 scleritis skos:exactMatch SCTID:78370002 semapv:UnspecifiedMatching MONDO:0001718 scleritis skos:exactMatch UMLS:C0036416 semapv:UnspecifiedMatching MONDO:0001718 scleritis skos:exactMatch mesh:D015423 semapv:UnspecifiedMatching MONDO:0001719 gonococcal bursitis skos:exactMatch DOID:13453 gonococcal bursitis semapv:UnspecifiedMatching MONDO:0001719 gonococcal bursitis skos:exactMatch SCTID:46699001 semapv:UnspecifiedMatching MONDO:0001719 gonococcal bursitis skos:exactMatch UMLS:C0153218 semapv:UnspecifiedMatching MONDO:0001720 gonococcal synovitis skos:exactMatch DOID:13454 gonococcal synovitis semapv:UnspecifiedMatching MONDO:0001720 gonococcal synovitis skos:exactMatch SCTID:266138002 semapv:UnspecifiedMatching MONDO:0001720 gonococcal synovitis skos:exactMatch UMLS:C0275662 semapv:UnspecifiedMatching MONDO:0001721 urethral intrinsic sphincter deficiency skos:exactMatch DOID:13461 urethral intrinsic sphincter deficiency semapv:UnspecifiedMatching MONDO:0001721 urethral intrinsic sphincter deficiency skos:exactMatch UMLS:C0375381 semapv:UnspecifiedMatching MONDO:0001722 central pterygium skos:exactMatch DOID:13473 central pterygium semapv:UnspecifiedMatching MONDO:0001722 central pterygium skos:exactMatch SCTID:43300008 semapv:UnspecifiedMatching MONDO:0001722 central pterygium skos:exactMatch UMLS:C0155156 semapv:UnspecifiedMatching MONDO:0001723 progressive peripheral pterygium skos:exactMatch DOID:13474 progressive peripheral pterygium semapv:UnspecifiedMatching MONDO:0001723 progressive peripheral pterygium skos:exactMatch SCTID:193881001 semapv:UnspecifiedMatching MONDO:0001723 progressive peripheral pterygium skos:exactMatch UMLS:C0155155 semapv:UnspecifiedMatching MONDO:0001724 supraglottis cancer skos:exactMatch DOID:13476 supraglottis cancer semapv:UnspecifiedMatching MONDO:0001724 supraglottis cancer skos:exactMatch ICD10CM:C32.1 Malignant neoplasm of supraglottis semapv:UnspecifiedMatching MONDO:0001724 supraglottis cancer skos:exactMatch NCIT:C3545 Malignant Supraglottis Neoplasm semapv:UnspecifiedMatching MONDO:0001724 supraglottis cancer skos:exactMatch SCTID:187842004 semapv:UnspecifiedMatching MONDO:0001724 supraglottis cancer skos:exactMatch UMLS:C0153484 semapv:UnspecifiedMatching MONDO:0001725 balanitis xerotica obliterans skos:exactMatch DOID:13477 balanitis xerotica obliterans semapv:UnspecifiedMatching MONDO:0001725 balanitis xerotica obliterans skos:exactMatch NCIT:C3523 Balanitis Xerotica Obliterans semapv:UnspecifiedMatching MONDO:0001725 balanitis xerotica obliterans skos:exactMatch SCTID:198033005 semapv:UnspecifiedMatching MONDO:0001725 balanitis xerotica obliterans skos:exactMatch UMLS:C0152460 semapv:UnspecifiedMatching MONDO:0001725 balanitis xerotica obliterans skos:exactMatch mesh:D052798 semapv:UnspecifiedMatching MONDO:0001727 active cochleovestibular Meniere disease skos:exactMatch DOID:13490 active cochleovestibular Meniere's disease semapv:UnspecifiedMatching MONDO:0001727 active cochleovestibular Meniere disease skos:exactMatch SCTID:194348002 semapv:UnspecifiedMatching MONDO:0001727 active cochleovestibular Meniere disease skos:exactMatch UMLS:C0155496 semapv:UnspecifiedMatching MONDO:0001728 active vestibular Meniere disease skos:exactMatch DOID:13491 active vestibular Meniere's disease semapv:UnspecifiedMatching MONDO:0001728 active vestibular Meniere disease skos:exactMatch SCTID:194350005 semapv:UnspecifiedMatching MONDO:0001728 active vestibular Meniere disease skos:exactMatch UMLS:C0155498 semapv:UnspecifiedMatching MONDO:0001729 active cochlear Meniere disease skos:exactMatch DOID:13492 active cochlear Meniere's disease semapv:UnspecifiedMatching MONDO:0001729 active cochlear Meniere disease skos:exactMatch SCTID:194349005 semapv:UnspecifiedMatching MONDO:0001729 active cochlear Meniere disease skos:exactMatch UMLS:C0155497 semapv:UnspecifiedMatching MONDO:0001730 urethral syndrome skos:exactMatch DOID:13498 urethral syndrome semapv:UnspecifiedMatching MONDO:0001730 urethral syndrome skos:exactMatch SCTID:31273004 semapv:UnspecifiedMatching MONDO:0001730 urethral syndrome skos:exactMatch UMLS:C0156279 semapv:UnspecifiedMatching MONDO:0001731 benign vaginal mixed epithelial and mesenchymal neoplasm skos:exactMatch DOID:135 benign vaginal carcinosarcoma semapv:UnspecifiedMatching MONDO:0001731 benign vaginal mixed epithelial and mesenchymal neoplasm skos:exactMatch NCIT:C40275 Benign Vaginal Mixed Epithelial and Mesenchymal Neoplasm semapv:UnspecifiedMatching MONDO:0001731 benign vaginal mixed epithelial and mesenchymal neoplasm skos:exactMatch UMLS:C1511106 semapv:UnspecifiedMatching MONDO:0001732 trigonitis skos:exactMatch DOID:13507 trigonitis semapv:UnspecifiedMatching MONDO:0001732 trigonitis skos:exactMatch ICD10CM:N30.3 Trigonitis semapv:UnspecifiedMatching MONDO:0001732 trigonitis skos:exactMatch NCIT:C123175 Trigonitis semapv:UnspecifiedMatching MONDO:0001732 trigonitis skos:exactMatch SCTID:74445007 semapv:UnspecifiedMatching MONDO:0001732 trigonitis skos:exactMatch UMLS:C1261278 semapv:UnspecifiedMatching MONDO:0001733 occlusion of tributary of retinal vein skos:exactMatch DOID:13514 venous tributary occlusion of retina semapv:UnspecifiedMatching MONDO:0001734 tuberous sclerosis skos:exactMatch DOID:13515 tuberous sclerosis semapv:UnspecifiedMatching MONDO:0001734 tuberous sclerosis skos:exactMatch NCIT:C3424 Tuberous Sclerosis semapv:UnspecifiedMatching MONDO:0001734 tuberous sclerosis skos:exactMatch OMIMPS:191100 semapv:UnspecifiedMatching MONDO:0001734 tuberous sclerosis skos:exactMatch Orphanet:805 Tuberous sclerosis complex semapv:UnspecifiedMatching MONDO:0001734 tuberous sclerosis skos:exactMatch SCTID:7199000 semapv:UnspecifiedMatching MONDO:0001734 tuberous sclerosis skos:exactMatch mesh:D014402 semapv:UnspecifiedMatching MONDO:0001735 paranasal sinus disorder skos:exactMatch DOID:1352 paranasal sinus disease semapv:UnspecifiedMatching MONDO:0001735 paranasal sinus disorder skos:exactMatch NCIT:C26843 Paranasal Sinus Disorder semapv:UnspecifiedMatching MONDO:0001735 paranasal sinus disorder skos:exactMatch SCTID:7393007 semapv:UnspecifiedMatching MONDO:0001735 paranasal sinus disorder skos:exactMatch UMLS:C0030469 semapv:UnspecifiedMatching MONDO:0001735 paranasal sinus disorder skos:exactMatch mesh:D010254 semapv:UnspecifiedMatching MONDO:0001736 neonatal infective mastitis skos:exactMatch DOID:13520 neonatal infective mastitis semapv:UnspecifiedMatching MONDO:0001736 neonatal infective mastitis skos:exactMatch ICD10CM:P39.0 Neonatal infective mastitis semapv:UnspecifiedMatching MONDO:0001736 neonatal infective mastitis skos:exactMatch SCTID:3468005 semapv:UnspecifiedMatching MONDO:0001736 neonatal infective mastitis skos:exactMatch UMLS:C0158948 semapv:UnspecifiedMatching MONDO:0001737 tetanus neonatorum skos:exactMatch DOID:13521 tetanus neonatorum semapv:UnspecifiedMatching MONDO:0001737 tetanus neonatorum skos:exactMatch ICD10CM:A33 Tetanus neonatorum semapv:UnspecifiedMatching MONDO:0001737 tetanus neonatorum skos:exactMatch NCIT:C116814 Tetanus Neonatorum semapv:UnspecifiedMatching MONDO:0001737 tetanus neonatorum skos:exactMatch SCTID:43424001 semapv:UnspecifiedMatching MONDO:0001737 tetanus neonatorum skos:exactMatch UMLS:C0343312 semapv:UnspecifiedMatching MONDO:0001739 purulent labyrinthitis skos:exactMatch DOID:13534 purulent labyrinthitis semapv:UnspecifiedMatching MONDO:0001739 purulent labyrinthitis skos:exactMatch SCTID:24817009 semapv:UnspecifiedMatching MONDO:0001739 purulent labyrinthitis skos:exactMatch UMLS:C0155506 semapv:UnspecifiedMatching MONDO:0001740 cornea squamous cell carcinoma skos:exactMatch DOID:13538 cornea squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0001740 cornea squamous cell carcinoma skos:exactMatch NCIT:C4552 Corneal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0001740 cornea squamous cell carcinoma skos:exactMatch SCTID:255008003 semapv:UnspecifiedMatching MONDO:0001740 cornea squamous cell carcinoma skos:exactMatch UMLS:C0346366 semapv:UnspecifiedMatching MONDO:0001741 hyperparathyroidism skos:exactMatch DOID:13543 hyperparathyroidism semapv:UnspecifiedMatching MONDO:0001741 hyperparathyroidism skos:exactMatch NCIT:C48259 Hyperparathyroidism semapv:UnspecifiedMatching MONDO:0001741 hyperparathyroidism skos:exactMatch SCTID:66999008 semapv:UnspecifiedMatching MONDO:0001741 hyperparathyroidism skos:exactMatch UMLS:C0020502 semapv:UnspecifiedMatching MONDO:0001741 hyperparathyroidism skos:exactMatch mesh:D006961 semapv:UnspecifiedMatching MONDO:0001742 interval angle-closure glaucoma skos:exactMatch DOID:13549 interval angle-closure glaucoma semapv:UnspecifiedMatching MONDO:0001742 interval angle-closure glaucoma skos:exactMatch SCTID:65460003 semapv:UnspecifiedMatching MONDO:0001742 interval angle-closure glaucoma skos:exactMatch UMLS:C0154945 semapv:UnspecifiedMatching MONDO:0001743 paranasal sinus lymphoma skos:exactMatch DOID:1355 paranasal sinus lymphoma semapv:UnspecifiedMatching MONDO:0001743 paranasal sinus lymphoma skos:exactMatch NCIT:C6068 Paranasal Sinus Lymphoma semapv:UnspecifiedMatching MONDO:0001743 paranasal sinus lymphoma skos:exactMatch UMLS:C1335339 semapv:UnspecifiedMatching MONDO:0001744 angle-closure glaucoma skos:exactMatch DOID:13550 angle-closure glaucoma semapv:UnspecifiedMatching MONDO:0001744 angle-closure glaucoma skos:exactMatch SCTID:392291006 semapv:UnspecifiedMatching MONDO:0001744 angle-closure glaucoma skos:exactMatch UMLS:C0017605 semapv:UnspecifiedMatching MONDO:0001744 angle-closure glaucoma skos:exactMatch mesh:D015812 semapv:UnspecifiedMatching MONDO:0001745 subserous uterine fibroid skos:exactMatch DOID:13560 subserous uterine fibroid semapv:UnspecifiedMatching MONDO:0001745 subserous uterine fibroid skos:exactMatch SCTID:95280005 semapv:UnspecifiedMatching MONDO:0001745 subserous uterine fibroid skos:exactMatch UMLS:C0153995 semapv:UnspecifiedMatching MONDO:0001746 optic disk drusen skos:exactMatch DOID:13561 optic disk drusen semapv:UnspecifiedMatching MONDO:0001746 optic disk drusen skos:exactMatch SCTID:33629003 semapv:UnspecifiedMatching MONDO:0001746 optic disk drusen skos:exactMatch UMLS:C0029128 semapv:UnspecifiedMatching MONDO:0001746 optic disk drusen skos:exactMatch mesh:D015594 semapv:UnspecifiedMatching MONDO:0001747 tibial collateral ligament bursitis skos:exactMatch DOID:13566 tibial collateral ligament bursitis semapv:UnspecifiedMatching MONDO:0001747 tibial collateral ligament bursitis skos:exactMatch SCTID:44245003 semapv:UnspecifiedMatching MONDO:0001747 tibial collateral ligament bursitis skos:exactMatch UMLS:C0158315 semapv:UnspecifiedMatching MONDO:0001748 maxillary sinus carcinoma skos:exactMatch DOID:1357 maxillary sinus cancer semapv:UnspecifiedMatching MONDO:0001748 maxillary sinus carcinoma skos:exactMatch NCIT:C3540 Malignant Maxillary Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0001748 maxillary sinus carcinoma skos:exactMatch NCIT:C9332 Maxillary Sinus Carcinoma semapv:UnspecifiedMatching MONDO:0001748 maxillary sinus carcinoma skos:exactMatch SCTID:363425008 semapv:UnspecifiedMatching MONDO:0001749 cortical senile cataract skos:exactMatch DOID:13574 cortical senile cataract semapv:UnspecifiedMatching MONDO:0001749 cortical senile cataract skos:exactMatch SCTID:78875003 semapv:UnspecifiedMatching MONDO:0001749 cortical senile cataract skos:exactMatch UMLS:C0154980 semapv:UnspecifiedMatching MONDO:0001750 non-renal secondary hyperparathyroidism skos:exactMatch DOID:13575 non-renal secondary hyperparathyroidism semapv:UnspecifiedMatching MONDO:0001751 cholestasis skos:exactMatch DOID:13580 cholestasis semapv:UnspecifiedMatching MONDO:0001751 cholestasis skos:exactMatch SCTID:30144000 semapv:UnspecifiedMatching MONDO:0001751 cholestasis skos:exactMatch UMLS:C0008370 semapv:UnspecifiedMatching MONDO:0001751 cholestasis skos:exactMatch mesh:D002779 semapv:UnspecifiedMatching MONDO:0001752 alveolar periostitis skos:exactMatch DOID:13585 alveolar periostitis semapv:UnspecifiedMatching MONDO:0001752 alveolar periostitis skos:exactMatch SCTID:61804006 semapv:UnspecifiedMatching MONDO:0001752 alveolar periostitis skos:exactMatch UMLS:C0013240 semapv:UnspecifiedMatching MONDO:0001752 alveolar periostitis skos:exactMatch mesh:D004368 semapv:UnspecifiedMatching MONDO:0001753 female infertility of uterine origin skos:exactMatch DOID:13589 female infertility of uterine origin semapv:UnspecifiedMatching MONDO:0001753 female infertility of uterine origin skos:exactMatch ICD10CM:N97.2 Female infertility of uterine origin semapv:UnspecifiedMatching MONDO:0001753 female infertility of uterine origin skos:exactMatch SCTID:26899006 semapv:UnspecifiedMatching MONDO:0001754 eclampsia skos:exactMatch DOID:13593 eclampsia semapv:UnspecifiedMatching MONDO:0001754 eclampsia skos:exactMatch ICD10CM:O15 Eclampsia semapv:UnspecifiedMatching MONDO:0001754 eclampsia skos:exactMatch NCIT:C87167 Eclampsia semapv:UnspecifiedMatching MONDO:0001754 eclampsia skos:exactMatch SCTID:303063000 semapv:UnspecifiedMatching MONDO:0001754 eclampsia skos:exactMatch UMLS:C0013537 semapv:UnspecifiedMatching MONDO:0001754 eclampsia skos:exactMatch mesh:D004461 semapv:UnspecifiedMatching MONDO:0001756 frontal sinus cancer skos:exactMatch DOID:1360 frontal sinus cancer semapv:UnspecifiedMatching MONDO:0001756 frontal sinus cancer skos:exactMatch ICD10CM:C31.2 Malignant neoplasm of frontal sinus semapv:UnspecifiedMatching MONDO:0001756 frontal sinus cancer skos:exactMatch NCIT:C3542 Malignant Frontal Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0001756 frontal sinus cancer skos:exactMatch SCTID:363427000 semapv:UnspecifiedMatching MONDO:0001756 frontal sinus cancer skos:exactMatch UMLS:C0153478 semapv:UnspecifiedMatching MONDO:0001757 frontal sinus neoplasm skos:exactMatch DOID:1361 frontal sinus benign neoplasm semapv:UnspecifiedMatching MONDO:0001757 frontal sinus neoplasm skos:exactMatch NCIT:C4419 Frontal Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0001757 frontal sinus neoplasm skos:exactMatch SCTID:126678005 semapv:UnspecifiedMatching MONDO:0001757 frontal sinus neoplasm skos:exactMatch UMLS:C0345672 semapv:UnspecifiedMatching MONDO:0001758 paranasal sinus sarcoma skos:exactMatch DOID:1362 paranasal sinus sarcoma semapv:UnspecifiedMatching MONDO:0001758 paranasal sinus sarcoma skos:exactMatch NCIT:C6849 Paranasal Sinus Sarcoma semapv:UnspecifiedMatching MONDO:0001758 paranasal sinus sarcoma skos:exactMatch UMLS:C1335342 semapv:UnspecifiedMatching MONDO:0001760 photokeratitis skos:exactMatch DOID:13626 photokeratitis semapv:UnspecifiedMatching MONDO:0001760 photokeratitis skos:exactMatch NCIT:C118750 Photokeratitis semapv:UnspecifiedMatching MONDO:0001760 photokeratitis skos:exactMatch SCTID:1714005 semapv:UnspecifiedMatching MONDO:0001760 photokeratitis skos:exactMatch UMLS:C0155078 semapv:UnspecifiedMatching MONDO:0001761 favism skos:exactMatch DOID:13628 favism semapv:UnspecifiedMatching MONDO:0001761 favism skos:exactMatch NCIT:C34607 Favism semapv:UnspecifiedMatching MONDO:0001761 favism skos:exactMatch SCTID:191172001 semapv:UnspecifiedMatching MONDO:0001761 favism skos:exactMatch UMLS:C0015702 semapv:UnspecifiedMatching MONDO:0001761 favism skos:exactMatch mesh:D005236 semapv:UnspecifiedMatching MONDO:0001762 dentine erosion skos:exactMatch DOID:13629 dentine erosion semapv:UnspecifiedMatching MONDO:0001763 ethmoid sinus cancer skos:exactMatch DOID:1363 ethmoid sinus cancer semapv:UnspecifiedMatching MONDO:0001763 ethmoid sinus cancer skos:exactMatch ICD10CM:C31.1 Malignant neoplasm of ethmoidal sinus semapv:UnspecifiedMatching MONDO:0001763 ethmoid sinus cancer skos:exactMatch NCIT:C3541 Malignant Ethmoid Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0001763 ethmoid sinus cancer skos:exactMatch SCTID:363426009 semapv:UnspecifiedMatching MONDO:0001763 ethmoid sinus cancer skos:exactMatch UMLS:C0153477 semapv:UnspecifiedMatching MONDO:0001764 ethmoidal sinus neoplasm skos:exactMatch DOID:1364 ethmoidal sinus benign neoplasm semapv:UnspecifiedMatching MONDO:0001764 ethmoidal sinus neoplasm skos:exactMatch NCIT:C4416 Ethmoid Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0001764 ethmoidal sinus neoplasm skos:exactMatch SCTID:126677000 semapv:UnspecifiedMatching MONDO:0001764 ethmoidal sinus neoplasm skos:exactMatch UMLS:C0345668 semapv:UnspecifiedMatching MONDO:0001765 polyneuropathy in collagen vascular disease skos:exactMatch DOID:13649 polyneuropathy in collagen vascular disease semapv:UnspecifiedMatching MONDO:0001765 polyneuropathy in collagen vascular disease skos:exactMatch SCTID:193177003 semapv:UnspecifiedMatching MONDO:0001765 polyneuropathy in collagen vascular disease skos:exactMatch UMLS:C0154759 semapv:UnspecifiedMatching MONDO:0001766 eversion of lacrimal punctum skos:exactMatch DOID:13651 eversion of lacrimal punctum semapv:UnspecifiedMatching MONDO:0001766 eversion of lacrimal punctum skos:exactMatch SCTID:28244003 semapv:UnspecifiedMatching MONDO:0001766 eversion of lacrimal punctum skos:exactMatch UMLS:C0155243 semapv:UnspecifiedMatching MONDO:0001767 stenosis of lacrimal punctum skos:exactMatch DOID:13653 stenosis of lacrimal punctum semapv:UnspecifiedMatching MONDO:0001767 stenosis of lacrimal punctum skos:exactMatch SCTID:74783009 semapv:UnspecifiedMatching MONDO:0001767 stenosis of lacrimal punctum skos:exactMatch UMLS:C0155244 semapv:UnspecifiedMatching MONDO:0001768 stenosis of lacrimal passage skos:exactMatch DOID:13654 stenosis of lacrimal passage semapv:UnspecifiedMatching MONDO:0001768 stenosis of lacrimal passage skos:exactMatch SCTID:81345003 semapv:UnspecifiedMatching MONDO:0001769 acquired tear duct stenosis skos:exactMatch DOID:13655 acquired tear duct stenosis semapv:UnspecifiedMatching MONDO:0001769 acquired tear duct stenosis skos:exactMatch SCTID:193995004 semapv:UnspecifiedMatching MONDO:0001770 gastrin secretion abnormality skos:exactMatch DOID:13656 gastrin secretion abnormality semapv:UnspecifiedMatching MONDO:0001770 gastrin secretion abnormality skos:exactMatch SCTID:47344007 semapv:UnspecifiedMatching MONDO:0001770 gastrin secretion abnormality skos:exactMatch UMLS:C0000774 semapv:UnspecifiedMatching MONDO:0001771 infective urethral stricture skos:exactMatch DOID:13658 infective urethral stricture semapv:UnspecifiedMatching MONDO:0001771 infective urethral stricture skos:exactMatch SCTID:80375002 semapv:UnspecifiedMatching MONDO:0001772 ulcer of anus and rectum skos:exactMatch DOID:13662 ulcer of anus and rectum semapv:UnspecifiedMatching MONDO:0001772 ulcer of anus and rectum skos:exactMatch ICD10CM:K62.6 Ulcer of anus and rectum semapv:UnspecifiedMatching MONDO:0001773 post-vaccinal encephalitis skos:exactMatch DOID:13664 post-vaccinal encephalitis semapv:UnspecifiedMatching MONDO:0001773 post-vaccinal encephalitis skos:exactMatch SCTID:31367003 semapv:UnspecifiedMatching MONDO:0001773 post-vaccinal encephalitis skos:exactMatch UMLS:C0751101 semapv:UnspecifiedMatching MONDO:0001774 posterior scleritis skos:exactMatch DOID:13676 posterior scleritis semapv:UnspecifiedMatching MONDO:0001774 posterior scleritis skos:exactMatch SCTID:267660007 semapv:UnspecifiedMatching MONDO:0001774 posterior scleritis skos:exactMatch UMLS:C0155357 semapv:UnspecifiedMatching MONDO:0001775 chronic duodenal ileus skos:exactMatch DOID:13687 chronic duodenal ileus semapv:UnspecifiedMatching MONDO:0001775 chronic duodenal ileus skos:exactMatch SCTID:52232007 semapv:UnspecifiedMatching MONDO:0001775 chronic duodenal ileus skos:exactMatch UMLS:C0156087 semapv:UnspecifiedMatching MONDO:0001776 prostate calculus skos:exactMatch DOID:13689 prostate calculus semapv:UnspecifiedMatching MONDO:0001776 prostate calculus skos:exactMatch ICD10CM:N42.0 Calculus of prostate semapv:UnspecifiedMatching MONDO:0001776 prostate calculus skos:exactMatch SCTID:85324003 semapv:UnspecifiedMatching MONDO:0001776 prostate calculus skos:exactMatch UMLS:C0149525 semapv:UnspecifiedMatching MONDO:0001777 acute gonococcal cystitis skos:exactMatch DOID:13690 acute gonococcal cystitis semapv:UnspecifiedMatching MONDO:0001777 acute gonococcal cystitis skos:exactMatch SCTID:24868007 semapv:UnspecifiedMatching MONDO:0001777 acute gonococcal cystitis skos:exactMatch UMLS:C0153191 semapv:UnspecifiedMatching MONDO:0001778 dermoid cyst of skin skos:exactMatch DOID:13691 dermoid cyst of skin semapv:UnspecifiedMatching MONDO:0001778 dermoid cyst of skin skos:exactMatch NCIT:C4632 Dermoid Cyst of the Skin semapv:UnspecifiedMatching MONDO:0001778 dermoid cyst of skin skos:exactMatch SCTID:276729007 semapv:UnspecifiedMatching MONDO:0001778 dermoid cyst of skin skos:exactMatch UMLS:C0349502 semapv:UnspecifiedMatching MONDO:0001779 vaginal squamous papilloma skos:exactMatch DOID:137 vaginal squamous papilloma semapv:UnspecifiedMatching MONDO:0001779 vaginal squamous papilloma skos:exactMatch NCIT:C6374 Vaginal Squamous Papilloma semapv:UnspecifiedMatching MONDO:0001779 vaginal squamous papilloma skos:exactMatch UMLS:C1336943 semapv:UnspecifiedMatching MONDO:0001780 premature ejaculation skos:exactMatch DOID:13709 premature ejaculation semapv:UnspecifiedMatching MONDO:0001780 premature ejaculation skos:exactMatch ICD10CM:F52.4 Premature ejaculation semapv:UnspecifiedMatching MONDO:0001780 premature ejaculation skos:exactMatch NCIT:C94349 Premature Ejaculation semapv:UnspecifiedMatching MONDO:0001780 premature ejaculation skos:exactMatch mesh:D061686 semapv:UnspecifiedMatching MONDO:0001781 uterine corpus adenomatoid tumor skos:exactMatch DOID:1371 uterine corpus adenomatoid tumor semapv:UnspecifiedMatching MONDO:0001781 uterine corpus adenomatoid tumor skos:exactMatch NCIT:C27250 Uterine Corpus Adenomatoid Tumor semapv:UnspecifiedMatching MONDO:0001781 uterine corpus adenomatoid tumor skos:exactMatch UMLS:C1336902 semapv:UnspecifiedMatching MONDO:0001782 mature cataract skos:exactMatch DOID:13717 mature cataract semapv:UnspecifiedMatching MONDO:0001782 mature cataract skos:exactMatch SCTID:849000 semapv:UnspecifiedMatching MONDO:0001783 endometrial stromal nodule skos:exactMatch DOID:1373 endometrial stromal nodule semapv:UnspecifiedMatching MONDO:0001783 endometrial stromal nodule skos:exactMatch NCIT:C4262 Endometrial Stromal Nodule semapv:UnspecifiedMatching MONDO:0001783 endometrial stromal nodule skos:exactMatch SCTID:721571001 semapv:UnspecifiedMatching MONDO:0001783 endometrial stromal nodule skos:exactMatch UMLS:C0334485 semapv:UnspecifiedMatching MONDO:0001784 malignant renovascular hypertension skos:exactMatch DOID:13730 malignant renovascular hypertension semapv:UnspecifiedMatching MONDO:0001785 malignant secondary hypertension skos:exactMatch DOID:13731 malignant secondary hypertension semapv:UnspecifiedMatching MONDO:0001785 malignant secondary hypertension skos:exactMatch SCTID:89242004 semapv:UnspecifiedMatching MONDO:0001785 malignant secondary hypertension skos:exactMatch UMLS:C0155617 semapv:UnspecifiedMatching MONDO:0001786 uterine inflammatory disease skos:exactMatch DOID:13736 uterine inflammatory disease semapv:UnspecifiedMatching MONDO:0001786 uterine inflammatory disease skos:exactMatch SCTID:28783002 semapv:UnspecifiedMatching MONDO:0001786 uterine inflammatory disease skos:exactMatch UMLS:C0269047 semapv:UnspecifiedMatching MONDO:0001787 hepatic infarction skos:exactMatch DOID:13738 hepatic infarction semapv:UnspecifiedMatching MONDO:0001787 hepatic infarction skos:exactMatch SCTID:17890003 semapv:UnspecifiedMatching MONDO:0001787 hepatic infarction skos:exactMatch UMLS:C0151731 semapv:UnspecifiedMatching MONDO:0001787 hepatic infarction skos:exactMatch mesh:D000081011 semapv:UnspecifiedMatching MONDO:0001788 nutmeg liver skos:exactMatch DOID:13739 nutmeg liver semapv:UnspecifiedMatching MONDO:0001788 nutmeg liver skos:exactMatch SCTID:34736002 semapv:UnspecifiedMatching MONDO:0001788 nutmeg liver skos:exactMatch UMLS:C0156195 semapv:UnspecifiedMatching MONDO:0001789 neurofibroma of spinal cord skos:exactMatch DOID:13742 neurofibroma of spinal cord semapv:UnspecifiedMatching MONDO:0001789 neurofibroma of spinal cord skos:exactMatch NCIT:C5145 Spinal Cord Neurofibroma semapv:UnspecifiedMatching MONDO:0001789 neurofibroma of spinal cord skos:exactMatch UMLS:C1336047 semapv:UnspecifiedMatching MONDO:0001790 spinal cord lipoma skos:exactMatch DOID:13743 spinal cord lipoma semapv:UnspecifiedMatching MONDO:0001790 spinal cord lipoma skos:exactMatch NCIT:C4619 Spinal Cord Lipoma semapv:UnspecifiedMatching MONDO:0001790 spinal cord lipoma skos:exactMatch Orphanet:645276 Spinal cord lipoma semapv:UnspecifiedMatching MONDO:0001790 spinal cord lipoma skos:exactMatch SCTID:189017000 semapv:UnspecifiedMatching MONDO:0001790 spinal cord lipoma skos:exactMatch UMLS:C0347446 semapv:UnspecifiedMatching MONDO:0001791 neonatal urinary tract infectious disease skos:exactMatch DOID:1375 neonatal urinary tract infectious disease semapv:UnspecifiedMatching MONDO:0001791 neonatal urinary tract infectious disease skos:exactMatch SCTID:12301009 semapv:UnspecifiedMatching MONDO:0001791 neonatal urinary tract infectious disease skos:exactMatch UMLS:C0235815 semapv:UnspecifiedMatching MONDO:0001792 epiphora due to insufficient drainage skos:exactMatch DOID:13756 epiphora due to insufficient drainage semapv:UnspecifiedMatching MONDO:0001792 epiphora due to insufficient drainage skos:exactMatch SCTID:85042000 semapv:UnspecifiedMatching MONDO:0001792 epiphora due to insufficient drainage skos:exactMatch UMLS:C0155234 semapv:UnspecifiedMatching MONDO:0001793 excessive tearing skos:exactMatch DOID:13757 excessive tearing semapv:UnspecifiedMatching MONDO:0001793 excessive tearing skos:exactMatch SCTID:193982009 semapv:UnspecifiedMatching MONDO:0001793 excessive tearing skos:exactMatch UMLS:C0152227 semapv:UnspecifiedMatching MONDO:0001794 Pthirus pubis infestation skos:exactMatch DOID:13760 Pthirus pubis infestation semapv:UnspecifiedMatching MONDO:0001794 Pthirus pubis infestation skos:exactMatch ICD10CM:B85.3 Phthiriasis semapv:UnspecifiedMatching MONDO:0001794 Pthirus pubis infestation skos:exactMatch NCIT:C35777 Pediculosis Pubis semapv:UnspecifiedMatching MONDO:0001794 Pthirus pubis infestation skos:exactMatch SCTID:71011005 semapv:UnspecifiedMatching MONDO:0001794 Pthirus pubis infestation skos:exactMatch UMLS:C0030759 semapv:UnspecifiedMatching MONDO:0001795 plantar wart skos:exactMatch DOID:13775 plantar wart semapv:UnspecifiedMatching MONDO:0001795 plantar wart skos:exactMatch ICD10CM:B07.0 Plantar wart semapv:UnspecifiedMatching MONDO:0001795 plantar wart skos:exactMatch NCIT:C26913 Verruca Plantaris semapv:UnspecifiedMatching MONDO:0001795 plantar wart skos:exactMatch SCTID:63440008 semapv:UnspecifiedMatching MONDO:0001795 plantar wart skos:exactMatch UMLS:C0042548 semapv:UnspecifiedMatching MONDO:0001797 chancroid skos:exactMatch DOID:13778 chancroid semapv:UnspecifiedMatching MONDO:0001797 chancroid skos:exactMatch ICD10CM:A57 Chancroid semapv:UnspecifiedMatching MONDO:0001797 chancroid skos:exactMatch SCTID:266143009 semapv:UnspecifiedMatching MONDO:0001797 chancroid skos:exactMatch UMLS:C0007947 semapv:UnspecifiedMatching MONDO:0001797 chancroid skos:exactMatch mesh:D002602 semapv:UnspecifiedMatching MONDO:0001798 hypermobility syndrome skos:exactMatch DOID:13781 hypermobility syndrome semapv:UnspecifiedMatching MONDO:0001798 hypermobility syndrome skos:exactMatch ICD10CM:M35.7 Hypermobility syndrome semapv:UnspecifiedMatching MONDO:0001798 hypermobility syndrome skos:exactMatch SCTID:85551004 semapv:UnspecifiedMatching MONDO:0001798 hypermobility syndrome skos:exactMatch UMLS:C0152093 semapv:UnspecifiedMatching MONDO:0001799 localized anterior staphyloma skos:exactMatch DOID:13787 localized anterior staphyloma semapv:UnspecifiedMatching MONDO:0001799 localized anterior staphyloma skos:exactMatch SCTID:21946002 semapv:UnspecifiedMatching MONDO:0001799 localized anterior staphyloma skos:exactMatch UMLS:C0155362 semapv:UnspecifiedMatching MONDO:0001800 equatorial staphyloma skos:exactMatch DOID:13788 equatorial staphyloma semapv:UnspecifiedMatching MONDO:0001800 equatorial staphyloma skos:exactMatch SCTID:82146006 semapv:UnspecifiedMatching MONDO:0001800 equatorial staphyloma skos:exactMatch UMLS:C0155361 semapv:UnspecifiedMatching MONDO:0001801 staphyloma posticum skos:exactMatch DOID:13789 staphyloma posticum semapv:UnspecifiedMatching MONDO:0001801 staphyloma posticum skos:exactMatch SCTID:87819007 semapv:UnspecifiedMatching MONDO:0001801 staphyloma posticum skos:exactMatch UMLS:C0155360 semapv:UnspecifiedMatching MONDO:0001802 acute tympanitis skos:exactMatch DOID:13790 acute tympanitis semapv:UnspecifiedMatching MONDO:0001802 acute tympanitis skos:exactMatch SCTID:297009 semapv:UnspecifiedMatching MONDO:0001802 acute tympanitis skos:exactMatch UMLS:C0155460 semapv:UnspecifiedMatching MONDO:0001803 myringitis bullosa hemorrhagica skos:exactMatch DOID:13791 myringitis bullosa hemorrhagica semapv:UnspecifiedMatching MONDO:0001803 myringitis bullosa hemorrhagica skos:exactMatch SCTID:33528003 semapv:UnspecifiedMatching MONDO:0001803 myringitis bullosa hemorrhagica skos:exactMatch UMLS:C0155461 semapv:UnspecifiedMatching MONDO:0001804 anterior scleritis skos:exactMatch DOID:13794 anterior scleritis semapv:UnspecifiedMatching MONDO:0001804 anterior scleritis skos:exactMatch SCTID:63454000 semapv:UnspecifiedMatching MONDO:0001804 anterior scleritis skos:exactMatch UMLS:C0155353 semapv:UnspecifiedMatching MONDO:0001805 female breast central part cancer skos:exactMatch DOID:13799 female breast central part cancer semapv:UnspecifiedMatching MONDO:0001805 female breast central part cancer skos:exactMatch SCTID:188151006 semapv:UnspecifiedMatching MONDO:0001805 female breast central part cancer skos:exactMatch UMLS:C0153549 semapv:UnspecifiedMatching MONDO:0001806 vaginal squamous tumor skos:exactMatch DOID:138 vaginal squamous tumor semapv:UnspecifiedMatching MONDO:0001806 vaginal squamous tumor skos:exactMatch NCIT:C40242 Vaginal Squamous Neoplasm semapv:UnspecifiedMatching MONDO:0001806 vaginal squamous tumor skos:exactMatch UMLS:C1519931 semapv:UnspecifiedMatching MONDO:0001807 obsolete familial combined hyperlipidemia skos:exactMatch DOID:13809 familial combined hyperlipidemia semapv:UnspecifiedMatching MONDO:0001807 obsolete familial combined hyperlipidemia skos:exactMatch Orphanet:79211 OBSOLETE: Combined hyperlipidemia semapv:UnspecifiedMatching MONDO:0001807 obsolete familial combined hyperlipidemia skos:exactMatch SCTID:238040008 semapv:UnspecifiedMatching MONDO:0001807 obsolete familial combined hyperlipidemia skos:exactMatch mesh:D006950 semapv:UnspecifiedMatching MONDO:0001808 chronic subinvolution of uterus skos:exactMatch DOID:13811 chronic subinvolution of uterus semapv:UnspecifiedMatching MONDO:0001808 chronic subinvolution of uterus skos:exactMatch SCTID:198315005 semapv:UnspecifiedMatching MONDO:0001808 chronic subinvolution of uterus skos:exactMatch UMLS:C0156370 semapv:UnspecifiedMatching MONDO:0001809 adhesions of uterus skos:exactMatch DOID:13812 adhesions of uterus semapv:UnspecifiedMatching MONDO:0001809 adhesions of uterus skos:exactMatch SCTID:361115000 semapv:UnspecifiedMatching MONDO:0001809 adhesions of uterus skos:exactMatch UMLS:C0241593 semapv:UnspecifiedMatching MONDO:0001810 hypoglossal nerve disorder skos:exactMatch DOID:13814 hypoglossal nerve disease semapv:UnspecifiedMatching MONDO:0001810 hypoglossal nerve disorder skos:exactMatch NCIT:C26954 Hypoglossal Nerve Disorder semapv:UnspecifiedMatching MONDO:0001810 hypoglossal nerve disorder skos:exactMatch SCTID:24777009 semapv:UnspecifiedMatching MONDO:0001810 hypoglossal nerve disorder skos:exactMatch UMLS:C0152181 semapv:UnspecifiedMatching MONDO:0001810 hypoglossal nerve disorder skos:exactMatch mesh:D020437 semapv:UnspecifiedMatching MONDO:0001811 tetanic cataract skos:exactMatch DOID:13822 tetanic cataract semapv:UnspecifiedMatching MONDO:0001811 tetanic cataract skos:exactMatch NCIT:C35068 Tetanic Cataract semapv:UnspecifiedMatching MONDO:0001811 tetanic cataract skos:exactMatch SCTID:68216000 semapv:UnspecifiedMatching MONDO:0001811 tetanic cataract skos:exactMatch UMLS:C0039613 semapv:UnspecifiedMatching MONDO:0001812 parasitic eyelid infestation skos:exactMatch DOID:13823 parasitic eyelid infestation semapv:UnspecifiedMatching MONDO:0001812 parasitic eyelid infestation skos:exactMatch SCTID:193922006 semapv:UnspecifiedMatching MONDO:0001812 parasitic eyelid infestation skos:exactMatch UMLS:C0155183 semapv:UnspecifiedMatching MONDO:0001813 squamous blepharitis skos:exactMatch DOID:13825 squamous blepharitis semapv:UnspecifiedMatching MONDO:0001813 squamous blepharitis skos:exactMatch SCTID:58912008 semapv:UnspecifiedMatching MONDO:0001813 squamous blepharitis skos:exactMatch UMLS:C0155174 semapv:UnspecifiedMatching MONDO:0001815 extrapyramidal and movement disease skos:exactMatch DOID:13839 extrapyramidal and movement disease semapv:UnspecifiedMatching MONDO:0001815 extrapyramidal and movement disease skos:exactMatch ICD10CM:G20-G26 Extrapyramidal and movement disorders (G20-G26) semapv:UnspecifiedMatching MONDO:0001815 extrapyramidal and movement disease skos:exactMatch UMLS:C0477355 semapv:UnspecifiedMatching MONDO:0001816 scleroperikeratitis skos:exactMatch DOID:13861 scleroperikeratitis semapv:UnspecifiedMatching MONDO:0001816 scleroperikeratitis skos:exactMatch SCTID:42574005 semapv:UnspecifiedMatching MONDO:0001816 scleroperikeratitis skos:exactMatch UMLS:C0155355 semapv:UnspecifiedMatching MONDO:0001817 acute closed-angle glaucoma skos:exactMatch DOID:13862 acute closed-angle glaucoma semapv:UnspecifiedMatching MONDO:0001817 acute closed-angle glaucoma skos:exactMatch SCTID:30041005 semapv:UnspecifiedMatching MONDO:0001817 acute closed-angle glaucoma skos:exactMatch UMLS:C0154946 semapv:UnspecifiedMatching MONDO:0001818 facial neuralgia skos:exactMatch DOID:13865 facial neuralgia semapv:UnspecifiedMatching MONDO:0001818 facial neuralgia skos:exactMatch SCTID:4151000119102 semapv:UnspecifiedMatching MONDO:0001818 facial neuralgia skos:exactMatch mesh:D005156 semapv:UnspecifiedMatching MONDO:0001819 multiple cranial nerve palsy skos:exactMatch DOID:13866 multiple cranial nerve palsy semapv:UnspecifiedMatching MONDO:0001819 multiple cranial nerve palsy skos:exactMatch SCTID:78152008 semapv:UnspecifiedMatching MONDO:0001819 multiple cranial nerve palsy skos:exactMatch UMLS:C0154733 semapv:UnspecifiedMatching MONDO:0001820 focal labyrinthitis skos:exactMatch DOID:13867 focal labyrinthitis semapv:UnspecifiedMatching MONDO:0001820 focal labyrinthitis skos:exactMatch SCTID:61794006 semapv:UnspecifiedMatching MONDO:0001820 focal labyrinthitis skos:exactMatch UMLS:C0155505 semapv:UnspecifiedMatching MONDO:0001821 hypoactive sexual desire disorder skos:exactMatch DOID:13868 hypoactive sexual desire disorder semapv:UnspecifiedMatching MONDO:0001821 hypoactive sexual desire disorder skos:exactMatch ICD10CM:F52.0 Hypoactive sexual desire disorder semapv:UnspecifiedMatching MONDO:0001821 hypoactive sexual desire disorder skos:exactMatch NCIT:C94337 Hypoactive Sexual Desire Disorder semapv:UnspecifiedMatching MONDO:0001821 hypoactive sexual desire disorder skos:exactMatch SCTID:270903007 semapv:UnspecifiedMatching MONDO:0001822 hypolipoproteinemia skos:exactMatch DOID:1387 hypolipoproteinemia semapv:UnspecifiedMatching MONDO:0001822 hypolipoproteinemia skos:exactMatch SCTID:363140000 semapv:UnspecifiedMatching MONDO:0001822 hypolipoproteinemia skos:exactMatch mesh:D007009 semapv:UnspecifiedMatching MONDO:0001823 sick sinus syndrome skos:exactMatch DOID:13884 sick sinus syndrome semapv:UnspecifiedMatching MONDO:0001823 sick sinus syndrome skos:exactMatch ICD10CM:I49.5 Sick sinus syndrome semapv:UnspecifiedMatching MONDO:0001823 sick sinus syndrome skos:exactMatch NCIT:C62244 Sick Sinus Syndrome semapv:UnspecifiedMatching MONDO:0001823 sick sinus syndrome skos:exactMatch SCTID:36083008 semapv:UnspecifiedMatching MONDO:0001823 sick sinus syndrome skos:exactMatch mesh:D012804 semapv:UnspecifiedMatching MONDO:0001824 polyneuropathy skos:exactMatch DOID:1389 polyneuropathy semapv:UnspecifiedMatching MONDO:0001824 polyneuropathy skos:exactMatch NCIT:C26951 Polyneuropathy semapv:UnspecifiedMatching MONDO:0001824 polyneuropathy skos:exactMatch SCTID:42345000 semapv:UnspecifiedMatching MONDO:0001824 polyneuropathy skos:exactMatch UMLS:C0152025 semapv:UnspecifiedMatching MONDO:0001824 polyneuropathy skos:exactMatch mesh:D011115 semapv:UnspecifiedMatching MONDO:0001825 squamous papilloma skos:exactMatch DOID:139 squamous cell papilloma semapv:UnspecifiedMatching MONDO:0001825 squamous papilloma skos:exactMatch NCIT:C3712 Squamous Papilloma semapv:UnspecifiedMatching MONDO:0001825 squamous papilloma skos:exactMatch UMLS:C0205874 semapv:UnspecifiedMatching MONDO:0001827 white piedra skos:exactMatch DOID:13902 white piedra semapv:UnspecifiedMatching MONDO:0001827 white piedra skos:exactMatch ICD10CM:B36.2 White piedra semapv:UnspecifiedMatching MONDO:0001827 white piedra skos:exactMatch SCTID:35586003 semapv:UnspecifiedMatching MONDO:0001827 white piedra skos:exactMatch UMLS:C0040249 semapv:UnspecifiedMatching MONDO:0001828 acquired color blindness skos:exactMatch DOID:13912 acquired color blindness semapv:UnspecifiedMatching MONDO:0001828 acquired color blindness skos:exactMatch ICD10CM:H53.52 Acquired color vision deficiency semapv:UnspecifiedMatching MONDO:0001828 acquired color blindness skos:exactMatch NCIT:C118712 Acquired Color Blindness semapv:UnspecifiedMatching MONDO:0001828 acquired color blindness skos:exactMatch SCTID:71676008 semapv:UnspecifiedMatching MONDO:0001829 lumbosacral plexus lesion skos:exactMatch DOID:13913 lumbosacral plexus lesion semapv:UnspecifiedMatching MONDO:0001829 lumbosacral plexus lesion skos:exactMatch SCTID:4062006 semapv:UnspecifiedMatching MONDO:0001829 lumbosacral plexus lesion skos:exactMatch UMLS:C0154735 semapv:UnspecifiedMatching MONDO:0001830 somatization disorder skos:exactMatch DOID:13918 somatization disorder semapv:UnspecifiedMatching MONDO:0001830 somatization disorder skos:exactMatch ICD10CM:F45.0 Somatization disorder semapv:UnspecifiedMatching MONDO:0001830 somatization disorder skos:exactMatch SCTID:397923000 semapv:UnspecifiedMatching MONDO:0001831 irregular astigmatism skos:exactMatch DOID:13919 irregular astigmatism semapv:UnspecifiedMatching MONDO:0001831 irregular astigmatism skos:exactMatch SCTID:47099006 semapv:UnspecifiedMatching MONDO:0001831 irregular astigmatism skos:exactMatch UMLS:C0152194 semapv:UnspecifiedMatching MONDO:0001832 bacterial esophagitis skos:exactMatch DOID:13921 bacterial esophagitis semapv:UnspecifiedMatching MONDO:0001832 bacterial esophagitis skos:exactMatch NCIT:C27106 Bacterial Esophagitis semapv:UnspecifiedMatching MONDO:0001832 bacterial esophagitis skos:exactMatch SCTID:235601001 semapv:UnspecifiedMatching MONDO:0001832 bacterial esophagitis skos:exactMatch UMLS:C0341108 semapv:UnspecifiedMatching MONDO:0001833 lacrimal duct obstruction skos:exactMatch DOID:13929 lacrimal duct obstruction semapv:UnspecifiedMatching MONDO:0001833 lacrimal duct obstruction skos:exactMatch SCTID:416920000 semapv:UnspecifiedMatching MONDO:0001833 lacrimal duct obstruction skos:exactMatch mesh:D007767 semapv:UnspecifiedMatching MONDO:0001834 visual pathway disorder skos:exactMatch DOID:1393 visual pathway disease semapv:UnspecifiedMatching MONDO:0001834 visual pathway disorder skos:exactMatch ICD10CM:H47.9 Unspecified disorder of visual pathways semapv:UnspecifiedMatching MONDO:0001834 visual pathway disorder skos:exactMatch NCIT:C35342 Visual Pathway Disorder semapv:UnspecifiedMatching MONDO:0001834 visual pathway disorder skos:exactMatch SCTID:54767005 semapv:UnspecifiedMatching MONDO:0001834 visual pathway disorder skos:exactMatch SCTID:95776004 semapv:UnspecifiedMatching MONDO:0001834 visual pathway disorder skos:exactMatch UMLS:C0155287 semapv:UnspecifiedMatching MONDO:0001835 facial paralysis skos:exactMatch DOID:13934 facial paralysis semapv:UnspecifiedMatching MONDO:0001835 facial paralysis skos:exactMatch SCTID:280816001 semapv:UnspecifiedMatching MONDO:0001835 facial paralysis skos:exactMatch UMLS:C0015469 semapv:UnspecifiedMatching MONDO:0001835 facial paralysis skos:exactMatch mesh:D005158 semapv:UnspecifiedMatching MONDO:0001836 amenorrhea skos:exactMatch DOID:13938 amenorrhea semapv:UnspecifiedMatching MONDO:0001836 amenorrhea skos:exactMatch NCIT:C61443 Amenorrhea semapv:UnspecifiedMatching MONDO:0001836 amenorrhea skos:exactMatch UMLS:C0002453 semapv:UnspecifiedMatching MONDO:0001836 amenorrhea skos:exactMatch mesh:D000568 semapv:UnspecifiedMatching MONDO:0001837 acute gonococcal salpingitis skos:exactMatch DOID:13942 acute gonococcal salpingitis semapv:UnspecifiedMatching MONDO:0001837 acute gonococcal salpingitis skos:exactMatch SCTID:45377007 semapv:UnspecifiedMatching MONDO:0001837 acute gonococcal salpingitis skos:exactMatch UMLS:C0275654 semapv:UnspecifiedMatching MONDO:0001838 acute gonococcal prostatitis skos:exactMatch DOID:13943 acute gonococcal prostatitis semapv:UnspecifiedMatching MONDO:0001838 acute gonococcal prostatitis skos:exactMatch SCTID:111806005 semapv:UnspecifiedMatching MONDO:0001838 acute gonococcal prostatitis skos:exactMatch UMLS:C0153192 semapv:UnspecifiedMatching MONDO:0001841 uterine corpus epithelioid leiomyoma skos:exactMatch DOID:13951 uterine corpus epithelioid leiomyoma semapv:UnspecifiedMatching MONDO:0001841 uterine corpus epithelioid leiomyoma skos:exactMatch NCIT:C40164 Uterine Corpus Epithelioid Leiomyoma semapv:UnspecifiedMatching MONDO:0001841 uterine corpus epithelioid leiomyoma skos:exactMatch UMLS:C1519850 semapv:UnspecifiedMatching MONDO:0001842 uterine corpus dissecting leiomyoma skos:exactMatch DOID:13953 uterine corpus dissecting leiomyoma semapv:UnspecifiedMatching MONDO:0001842 uterine corpus dissecting leiomyoma skos:exactMatch NCIT:C40172 Uterine Corpus Dissecting Leiomyoma semapv:UnspecifiedMatching MONDO:0001842 uterine corpus dissecting leiomyoma skos:exactMatch UMLS:C1519847 semapv:UnspecifiedMatching MONDO:0001843 uterus interstitial leiomyoma skos:exactMatch DOID:13955 uterus interstitial leiomyoma semapv:UnspecifiedMatching MONDO:0001843 uterus interstitial leiomyoma skos:exactMatch ICD10CM:D25.1 Intramural leiomyoma of uterus semapv:UnspecifiedMatching MONDO:0001843 uterus interstitial leiomyoma skos:exactMatch SCTID:93616000 semapv:UnspecifiedMatching MONDO:0001843 uterus interstitial leiomyoma skos:exactMatch UMLS:C0153994 semapv:UnspecifiedMatching MONDO:0001844 uterine corpus myxoid leiomyoma skos:exactMatch DOID:13956 uterine corpus myxoid leiomyoma semapv:UnspecifiedMatching MONDO:0001844 uterine corpus myxoid leiomyoma skos:exactMatch NCIT:C40166 Uterine Corpus Myxoid Leiomyoma semapv:UnspecifiedMatching MONDO:0001844 uterine corpus myxoid leiomyoma skos:exactMatch UMLS:C1519860 semapv:UnspecifiedMatching MONDO:0001845 uterine corpus lipoleiomyoma skos:exactMatch DOID:13957 uterine corpus lipoleiomyoma semapv:UnspecifiedMatching MONDO:0001845 uterine corpus lipoleiomyoma skos:exactMatch NCIT:C40168 Uterine Corpus Lipoleiomyoma semapv:UnspecifiedMatching MONDO:0001845 uterine corpus lipoleiomyoma skos:exactMatch UMLS:C1519856 semapv:UnspecifiedMatching MONDO:0001846 uterine corpus bizarre leiomyoma skos:exactMatch DOID:13958 uterine corpus bizarre leiomyoma semapv:UnspecifiedMatching MONDO:0001846 uterine corpus bizarre leiomyoma skos:exactMatch NCIT:C40167 Uterine Corpus Bizarre Leiomyoma semapv:UnspecifiedMatching MONDO:0001846 uterine corpus bizarre leiomyoma skos:exactMatch UMLS:C1519853 semapv:UnspecifiedMatching MONDO:0001847 nuclear senile cataract skos:exactMatch DOID:13963 nuclear senile cataract semapv:UnspecifiedMatching MONDO:0001847 nuclear senile cataract skos:exactMatch SCTID:193589009 semapv:UnspecifiedMatching MONDO:0001848 Morgagni cataract skos:exactMatch DOID:13964 Morgagni cataract semapv:UnspecifiedMatching MONDO:0001848 Morgagni cataract skos:exactMatch SCTID:264443002 semapv:UnspecifiedMatching MONDO:0001848 Morgagni cataract skos:exactMatch UMLS:C0152258 semapv:UnspecifiedMatching MONDO:0001849 chronic orbital inflammation skos:exactMatch DOID:1397 chronic orbital inflammation semapv:UnspecifiedMatching MONDO:0001849 chronic orbital inflammation skos:exactMatch SCTID:44729001 semapv:UnspecifiedMatching MONDO:0001849 chronic orbital inflammation skos:exactMatch UMLS:C0155261 semapv:UnspecifiedMatching MONDO:0001850 female breast lower-outer quadrant cancer skos:exactMatch DOID:13972 female breast lower-outer quadrant cancer semapv:UnspecifiedMatching MONDO:0001850 female breast lower-outer quadrant cancer skos:exactMatch SCTID:188155002 semapv:UnspecifiedMatching MONDO:0001850 female breast lower-outer quadrant cancer skos:exactMatch UMLS:C0153553 semapv:UnspecifiedMatching MONDO:0001851 primary lacrimal atrophy skos:exactMatch DOID:1399 primary lacrimal atrophy semapv:UnspecifiedMatching MONDO:0001851 primary lacrimal atrophy skos:exactMatch SCTID:17093002 semapv:UnspecifiedMatching MONDO:0001851 primary lacrimal atrophy skos:exactMatch UMLS:C0155229 semapv:UnspecifiedMatching MONDO:0001852 small intestine lymphoma skos:exactMatch DOID:13996 small intestine lymphoma semapv:UnspecifiedMatching MONDO:0001852 small intestine lymphoma skos:exactMatch NCIT:C4007 Small Intestinal Lymphoma semapv:UnspecifiedMatching MONDO:0001852 small intestine lymphoma skos:exactMatch SCTID:449074003 semapv:UnspecifiedMatching MONDO:0001852 small intestine lymphoma skos:exactMatch UMLS:C0278805 semapv:UnspecifiedMatching MONDO:0001853 contact blepharoconjunctivitis skos:exactMatch DOID:13999 contact blepharoconjunctivitis semapv:UnspecifiedMatching MONDO:0001853 contact blepharoconjunctivitis skos:exactMatch SCTID:10813004 semapv:UnspecifiedMatching MONDO:0001853 contact blepharoconjunctivitis skos:exactMatch UMLS:C0155150 semapv:UnspecifiedMatching MONDO:0001854 lacrimal apparatus disorder skos:exactMatch DOID:1400 lacrimal apparatus disease semapv:UnspecifiedMatching MONDO:0001854 lacrimal apparatus disorder skos:exactMatch NCIT:C26809 Lacrimal System Disorder semapv:UnspecifiedMatching MONDO:0001854 lacrimal apparatus disorder skos:exactMatch SCTID:31053003 semapv:UnspecifiedMatching MONDO:0001854 lacrimal apparatus disorder skos:exactMatch mesh:D007766 semapv:UnspecifiedMatching MONDO:0001855 rubeosis iridis skos:exactMatch DOID:14000 rubeosis iridis semapv:UnspecifiedMatching MONDO:0001855 rubeosis iridis skos:exactMatch SCTID:51995000 semapv:UnspecifiedMatching MONDO:0001855 rubeosis iridis skos:exactMatch UMLS:C0154916 semapv:UnspecifiedMatching MONDO:0001856 splenic artery aneurysm skos:exactMatch DOID:14006 splenic artery aneurysm semapv:UnspecifiedMatching MONDO:0001856 splenic artery aneurysm skos:exactMatch SCTID:70405009 semapv:UnspecifiedMatching MONDO:0001856 splenic artery aneurysm skos:exactMatch UMLS:C0155747 semapv:UnspecifiedMatching MONDO:0001857 Brucella canis brucellosis skos:exactMatch DOID:14019 Brucella canis brucellosis semapv:UnspecifiedMatching MONDO:0001857 Brucella canis brucellosis skos:exactMatch SCTID:428174001 semapv:UnspecifiedMatching MONDO:0001857 Brucella canis brucellosis skos:exactMatch UMLS:C0494040 semapv:UnspecifiedMatching MONDO:0001858 Tietze syndrome skos:exactMatch DOID:14021 Tietze's syndrome semapv:UnspecifiedMatching MONDO:0001858 Tietze syndrome skos:exactMatch NCIT:C168333 Musculoskeletal Chest Pain due to Costochondral Junction Syndrome semapv:UnspecifiedMatching MONDO:0001858 Tietze syndrome skos:exactMatch SCTID:30128009 semapv:UnspecifiedMatching MONDO:0001858 Tietze syndrome skos:exactMatch UMLS:C0040213 semapv:UnspecifiedMatching MONDO:0001858 Tietze syndrome skos:exactMatch mesh:D013991 semapv:UnspecifiedMatching MONDO:0001859 algoneurodystrophy skos:exactMatch DOID:14022 algoneurodystrophy semapv:UnspecifiedMatching MONDO:0001859 algoneurodystrophy skos:exactMatch ICD10CM:M89.0 Algoneurodystrophy semapv:UnspecifiedMatching MONDO:0001860 folic acid deficiency anemia skos:exactMatch DOID:14026 folic acid deficiency anemia semapv:UnspecifiedMatching MONDO:0001860 folic acid deficiency anemia skos:exactMatch SCTID:85649008 semapv:UnspecifiedMatching MONDO:0001860 folic acid deficiency anemia skos:exactMatch UMLS:C0151482 semapv:UnspecifiedMatching MONDO:0001861 malignant parietal pleura tumor skos:exactMatch DOID:14032 malignant parietal pleura tumor semapv:UnspecifiedMatching MONDO:0001861 malignant parietal pleura tumor skos:exactMatch SCTID:93948004 semapv:UnspecifiedMatching MONDO:0001861 malignant parietal pleura tumor skos:exactMatch UMLS:C0153495 semapv:UnspecifiedMatching MONDO:0001862 malignant visceral pleura tumor skos:exactMatch DOID:14033 malignant visceral pleura tumor semapv:UnspecifiedMatching MONDO:0001862 malignant visceral pleura tumor skos:exactMatch SCTID:94140004 semapv:UnspecifiedMatching MONDO:0001862 malignant visceral pleura tumor skos:exactMatch UMLS:C0153496 semapv:UnspecifiedMatching MONDO:0001863 aorta atresia skos:exactMatch DOID:14037 aorta atresia semapv:UnspecifiedMatching MONDO:0001863 aorta atresia skos:exactMatch ICD10CM:Q25.2 Atresia of aorta semapv:UnspecifiedMatching MONDO:0001863 aorta atresia skos:exactMatch SCTID:204431007 semapv:UnspecifiedMatching MONDO:0001864 residual stage angle-closure glaucoma skos:exactMatch DOID:1404 residual stage angle-closure glaucoma semapv:UnspecifiedMatching MONDO:0001864 residual stage angle-closure glaucoma skos:exactMatch SCTID:55129006 semapv:UnspecifiedMatching MONDO:0001864 residual stage angle-closure glaucoma skos:exactMatch UMLS:C0154948 semapv:UnspecifiedMatching MONDO:0001866 bipolar I disorder skos:exactMatch DOID:14042 bipolar I disorder semapv:UnspecifiedMatching MONDO:0001866 bipolar I disorder skos:exactMatch SCTID:371596008 semapv:UnspecifiedMatching MONDO:0001867 phaeohyphomycosis skos:exactMatch DOID:14049 phaeohyphomycosis semapv:UnspecifiedMatching MONDO:0001867 phaeohyphomycosis skos:exactMatch SCTID:47158003 semapv:UnspecifiedMatching MONDO:0001867 phaeohyphomycosis skos:exactMatch mesh:D060446 semapv:UnspecifiedMatching MONDO:0001868 primary angle-closure glaucoma skos:exactMatch DOID:1405 primary angle-closure glaucoma semapv:UnspecifiedMatching MONDO:0001868 primary angle-closure glaucoma skos:exactMatch ICD10CM:H40.2 Primary angle-closure glaucoma semapv:UnspecifiedMatching MONDO:0001868 primary angle-closure glaucoma skos:exactMatch SCTID:392288006 semapv:UnspecifiedMatching MONDO:0001868 primary angle-closure glaucoma skos:exactMatch UMLS:C0017606 semapv:UnspecifiedMatching MONDO:0001869 paraurethral gland cancer skos:exactMatch DOID:14059 paraurethral gland cancer semapv:UnspecifiedMatching MONDO:0001869 paraurethral gland cancer skos:exactMatch SCTID:363460002 semapv:UnspecifiedMatching MONDO:0001869 paraurethral gland cancer skos:exactMatch UMLS:C0153621 semapv:UnspecifiedMatching MONDO:0001870 acute poststreptococcal glomerulonephritis skos:exactMatch DOID:14064 acute poststreptococcal glomerulonephritis semapv:UnspecifiedMatching MONDO:0001870 acute poststreptococcal glomerulonephritis skos:exactMatch SCTID:68544003 semapv:UnspecifiedMatching MONDO:0001870 acute poststreptococcal glomerulonephritis skos:exactMatch UMLS:C0403414 semapv:UnspecifiedMatching MONDO:0001871 acute diffuse glomerulonephritis skos:exactMatch DOID:14066 acute diffuse nephritis semapv:UnspecifiedMatching MONDO:0001871 acute diffuse glomerulonephritis skos:exactMatch NCIT:C35587 Acute Diffuse Glomerulonephritis semapv:UnspecifiedMatching MONDO:0001871 acute diffuse glomerulonephritis skos:exactMatch SCTID:197585004 semapv:UnspecifiedMatching MONDO:0001871 acute diffuse glomerulonephritis skos:exactMatch UMLS:C0341689 semapv:UnspecifiedMatching MONDO:0001872 obsolete vestibular nystagmus skos:exactMatch DOID:14070 vestibular nystagmus semapv:UnspecifiedMatching MONDO:0001872 obsolete vestibular nystagmus skos:exactMatch SCTID:46888001 semapv:UnspecifiedMatching MONDO:0001872 obsolete vestibular nystagmus skos:exactMatch UMLS:C0155379 semapv:UnspecifiedMatching MONDO:0001873 geniculate ganglionitis skos:exactMatch DOID:14075 geniculate ganglionitis semapv:UnspecifiedMatching MONDO:0001873 geniculate ganglionitis skos:exactMatch ICD10CM:G51.1 Geniculate ganglionitis semapv:UnspecifiedMatching MONDO:0001873 geniculate ganglionitis skos:exactMatch SCTID:72839009 semapv:UnspecifiedMatching MONDO:0001873 geniculate ganglionitis skos:exactMatch UMLS:C0017407 semapv:UnspecifiedMatching MONDO:0001874 toxic labyrinthitis skos:exactMatch DOID:14081 toxic labyrinthitis semapv:UnspecifiedMatching MONDO:0001874 toxic labyrinthitis skos:exactMatch SCTID:3344003 semapv:UnspecifiedMatching MONDO:0001874 toxic labyrinthitis skos:exactMatch SCTID:9062008 semapv:UnspecifiedMatching MONDO:0001874 toxic labyrinthitis skos:exactMatch UMLS:C0155507 semapv:UnspecifiedMatching MONDO:0001875 epicondylitis skos:exactMatch DOID:14087 epicondylitis semapv:UnspecifiedMatching MONDO:0001875 epicondylitis skos:exactMatch ICD10CM:M77.1 Lateral epicondylitis semapv:UnspecifiedMatching MONDO:0001875 epicondylitis skos:exactMatch NCIT:C34589 Epicondylitis semapv:UnspecifiedMatching MONDO:0001875 epicondylitis skos:exactMatch SCTID:202855006 semapv:UnspecifiedMatching MONDO:0001875 epicondylitis skos:exactMatch UMLS:C0014488 semapv:UnspecifiedMatching MONDO:0001875 epicondylitis skos:exactMatch mesh:D013716 semapv:UnspecifiedMatching MONDO:0001876 renal artery atheroma skos:exactMatch DOID:14092 renal artery atheroma semapv:UnspecifiedMatching MONDO:0001876 renal artery atheroma skos:exactMatch ICD10CM:I70.1 Atherosclerosis of renal artery semapv:UnspecifiedMatching MONDO:0001876 renal artery atheroma skos:exactMatch SCTID:45281005 semapv:UnspecifiedMatching MONDO:0001876 renal artery atheroma skos:exactMatch UMLS:C0155734 semapv:UnspecifiedMatching MONDO:0001877 infertility due to extratesticular cause skos:exactMatch DOID:14096 infertility due to extratesticular cause semapv:UnspecifiedMatching MONDO:0001877 infertility due to extratesticular cause skos:exactMatch SCTID:84245004 semapv:UnspecifiedMatching MONDO:0001877 infertility due to extratesticular cause skos:exactMatch UMLS:C0021360 semapv:UnspecifiedMatching MONDO:0001878 acquired hypertrophic pyloric stenosis skos:exactMatch DOID:14099 acquired gastric outlet stenosis semapv:UnspecifiedMatching MONDO:0001878 acquired hypertrophic pyloric stenosis skos:exactMatch SCTID:266438007 semapv:UnspecifiedMatching MONDO:0001878 acquired hypertrophic pyloric stenosis skos:exactMatch UMLS:C0700588 semapv:UnspecifiedMatching MONDO:0001879 anus cancer skos:exactMatch DOID:14110 anus cancer semapv:UnspecifiedMatching MONDO:0001879 anus cancer skos:exactMatch NCIT:C7379 Malignant Anal Neoplasm semapv:UnspecifiedMatching MONDO:0001880 median rhomboid glossitis skos:exactMatch DOID:14111 median rhomboid glossitis semapv:UnspecifiedMatching MONDO:0001880 median rhomboid glossitis skos:exactMatch ICD10CM:K14.2 Median rhomboid glossitis semapv:UnspecifiedMatching MONDO:0001880 median rhomboid glossitis skos:exactMatch SCTID:7522008 semapv:UnspecifiedMatching MONDO:0001881 toxic shock syndrome skos:exactMatch DOID:14115 toxic shock syndrome semapv:UnspecifiedMatching MONDO:0001881 toxic shock syndrome skos:exactMatch ICD10CM:A48.3 Toxic shock syndrome semapv:UnspecifiedMatching MONDO:0001881 toxic shock syndrome skos:exactMatch NCIT:C35498 Toxic Shock Syndrome semapv:UnspecifiedMatching MONDO:0001881 toxic shock syndrome skos:exactMatch Orphanet:36234 Bacterial toxic-shock syndrome semapv:UnspecifiedMatching MONDO:0001881 toxic shock syndrome skos:exactMatch SCTID:18504008 semapv:UnspecifiedMatching MONDO:0001881 toxic shock syndrome skos:exactMatch UMLS:C0600327 semapv:UnspecifiedMatching MONDO:0001881 toxic shock syndrome skos:exactMatch mesh:D012772 semapv:UnspecifiedMatching MONDO:0001882 bacteriuria skos:exactMatch DOID:1412 bacteriuria semapv:UnspecifiedMatching MONDO:0001882 bacteriuria skos:exactMatch UMLS:C0004659 semapv:UnspecifiedMatching MONDO:0001882 bacteriuria skos:exactMatch mesh:D001437 semapv:UnspecifiedMatching MONDO:0001883 blue toe syndrome skos:exactMatch DOID:14121 blue toe syndrome semapv:UnspecifiedMatching MONDO:0001883 blue toe syndrome skos:exactMatch UMLS:C0242645 semapv:UnspecifiedMatching MONDO:0001883 blue toe syndrome skos:exactMatch mesh:D018438 semapv:UnspecifiedMatching MONDO:0001884 abducens nerve neoplasm skos:exactMatch DOID:14125 abducens nerve neoplasm semapv:UnspecifiedMatching MONDO:0001884 abducens nerve neoplasm skos:exactMatch NCIT:C5826 Abducens Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0001884 abducens nerve neoplasm skos:exactMatch SCTID:126972009 semapv:UnspecifiedMatching MONDO:0001884 abducens nerve neoplasm skos:exactMatch UMLS:C1263898 semapv:UnspecifiedMatching MONDO:0001885 lateral cystocele skos:exactMatch DOID:14130 lateral cystocele semapv:UnspecifiedMatching MONDO:0001885 lateral cystocele skos:exactMatch ICD10CM:N81.12 Cystocele, lateral semapv:UnspecifiedMatching MONDO:0001885 lateral cystocele skos:exactMatch SCTID:441891001 semapv:UnspecifiedMatching MONDO:0001885 lateral cystocele skos:exactMatch UMLS:C2711750 semapv:UnspecifiedMatching MONDO:0001886 midline cystocele skos:exactMatch DOID:14131 midline cystocele semapv:UnspecifiedMatching MONDO:0001886 midline cystocele skos:exactMatch ICD10CM:N81.11 Cystocele, midline semapv:UnspecifiedMatching MONDO:0001886 midline cystocele skos:exactMatch SCTID:423633003 semapv:UnspecifiedMatching MONDO:0001886 midline cystocele skos:exactMatch UMLS:C1456248 semapv:UnspecifiedMatching MONDO:0001887 Allen-Masters syndrome skos:exactMatch DOID:14133 Masters-Allen syndrome semapv:UnspecifiedMatching MONDO:0001887 Allen-Masters syndrome skos:exactMatch SCTID:69186005 semapv:UnspecifiedMatching MONDO:0001887 Allen-Masters syndrome skos:exactMatch UMLS:C0152079 semapv:UnspecifiedMatching MONDO:0001888 anus lymphoma skos:exactMatch DOID:14139 anus lymphoma semapv:UnspecifiedMatching MONDO:0001888 anus lymphoma skos:exactMatch NCIT:C5601 Anal Lymphoma semapv:UnspecifiedMatching MONDO:0001888 anus lymphoma skos:exactMatch UMLS:C1332268 semapv:UnspecifiedMatching MONDO:0001889 ovarian dysfunction skos:exactMatch DOID:1414 ovarian dysfunction semapv:UnspecifiedMatching MONDO:0001889 ovarian dysfunction skos:exactMatch ICD10CM:E28 Ovarian dysfunction semapv:UnspecifiedMatching MONDO:0001889 ovarian dysfunction skos:exactMatch NCIT:C113351 Ovarian Failure semapv:UnspecifiedMatching MONDO:0001889 ovarian dysfunction skos:exactMatch SCTID:37102008 semapv:UnspecifiedMatching MONDO:0001890 pulp erosion skos:exactMatch DOID:14140 pulp erosion semapv:UnspecifiedMatching MONDO:0001892 spinal cord lymphoma skos:exactMatch DOID:14150 spinal cord lymphoma semapv:UnspecifiedMatching MONDO:0001892 spinal cord lymphoma skos:exactMatch NCIT:C5157 Spinal Cord Lymphoma semapv:UnspecifiedMatching MONDO:0001892 spinal cord lymphoma skos:exactMatch UMLS:C1336044 semapv:UnspecifiedMatching MONDO:0001893 spinal cord melanoma skos:exactMatch DOID:14151 spinal cord melanoma semapv:UnspecifiedMatching MONDO:0001893 spinal cord melanoma skos:exactMatch NCIT:C5158 Spinal Cord Melanoma semapv:UnspecifiedMatching MONDO:0001893 spinal cord melanoma skos:exactMatch UMLS:C1336045 semapv:UnspecifiedMatching MONDO:0001894 spinal cord sarcoma skos:exactMatch DOID:14152 spinal cord sarcoma semapv:UnspecifiedMatching MONDO:0001894 spinal cord sarcoma skos:exactMatch NCIT:C5152 Spinal Cord Sarcoma semapv:UnspecifiedMatching MONDO:0001894 spinal cord sarcoma skos:exactMatch UMLS:C1336049 semapv:UnspecifiedMatching MONDO:0001895 acute retrobulbar neuritis skos:exactMatch DOID:14155 acute retrobulbar neuritis semapv:UnspecifiedMatching MONDO:0001895 acute retrobulbar neuritis skos:exactMatch SCTID:51604006 semapv:UnspecifiedMatching MONDO:0001895 acute retrobulbar neuritis skos:exactMatch UMLS:C0155301 semapv:UnspecifiedMatching MONDO:0001896 obstructive hydrocephalus skos:exactMatch DOID:14159 obstructive hydrocephalus semapv:UnspecifiedMatching MONDO:0001896 obstructive hydrocephalus skos:exactMatch ICD10CM:G91.1 Obstructive hydrocephalus semapv:UnspecifiedMatching MONDO:0001896 obstructive hydrocephalus skos:exactMatch NCIT:C116347 Non-Communicating Hydrocephalus semapv:UnspecifiedMatching MONDO:0001896 obstructive hydrocephalus skos:exactMatch SCTID:230746009 semapv:UnspecifiedMatching MONDO:0001896 obstructive hydrocephalus skos:exactMatch UMLS:C0549423 semapv:UnspecifiedMatching MONDO:0001897 bilateral hyperactive labyrinth skos:exactMatch DOID:14165 bilateral hyperactive labyrinth semapv:UnspecifiedMatching MONDO:0001897 bilateral hyperactive labyrinth skos:exactMatch SCTID:194373002 semapv:UnspecifiedMatching MONDO:0001897 bilateral hyperactive labyrinth skos:exactMatch UMLS:C0155516 semapv:UnspecifiedMatching MONDO:0001898 optic choroid disorder skos:exactMatch DOID:1417 choroid disease semapv:UnspecifiedMatching MONDO:0001898 optic choroid disorder skos:exactMatch NCIT:C34468 Choroid Disorder semapv:UnspecifiedMatching MONDO:0001898 optic choroid disorder skos:exactMatch SCTID:128468007 semapv:UnspecifiedMatching MONDO:0001898 optic choroid disorder skos:exactMatch UMLS:C4025836 semapv:UnspecifiedMatching MONDO:0001898 optic choroid disorder skos:exactMatch mesh:D015862 semapv:UnspecifiedMatching MONDO:0001899 rheumatic congestive heart failure skos:exactMatch DOID:14172 rheumatic congestive heart failure semapv:UnspecifiedMatching MONDO:0001899 rheumatic congestive heart failure skos:exactMatch ICD10CM:I09.81 Rheumatic heart failure semapv:UnspecifiedMatching MONDO:0001899 rheumatic congestive heart failure skos:exactMatch SCTID:82523003 semapv:UnspecifiedMatching MONDO:0001899 rheumatic congestive heart failure skos:exactMatch UMLS:C0155582 semapv:UnspecifiedMatching MONDO:0001901 selective IgG subclass deficiency skos:exactMatch DOID:14176 selective IgG deficiency disease semapv:UnspecifiedMatching MONDO:0001901 selective IgG subclass deficiency skos:exactMatch NCIT:C27024 Selective Immunoglobulin G Subclass Deficiency semapv:UnspecifiedMatching MONDO:0001901 selective IgG subclass deficiency skos:exactMatch SCTID:190981001 semapv:UnspecifiedMatching MONDO:0001901 selective IgG subclass deficiency skos:exactMatch mesh:D017099 semapv:UnspecifiedMatching MONDO:0001902 congenital agammaglobulinemia skos:exactMatch DOID:14177 congenital hypogammaglobulinemia semapv:UnspecifiedMatching MONDO:0001902 congenital agammaglobulinemia skos:exactMatch UMLS:C5574711 semapv:UnspecifiedMatching MONDO:0001903 calcific tendinitis skos:exactMatch DOID:14181 calcific tendinitis semapv:UnspecifiedMatching MONDO:0001903 calcific tendinitis skos:exactMatch ICD10CM:M65.2 Calcific tendinitis semapv:UnspecifiedMatching MONDO:0001903 calcific tendinitis skos:exactMatch SCTID:95414005 semapv:UnspecifiedMatching MONDO:0001903 calcific tendinitis skos:exactMatch UMLS:C0521515 semapv:UnspecifiedMatching MONDO:0001904 polyneuropathy due to drug skos:exactMatch DOID:14184 polyneuropathy due to drug semapv:UnspecifiedMatching MONDO:0001904 polyneuropathy due to drug skos:exactMatch SCTID:7339009 semapv:UnspecifiedMatching MONDO:0001904 polyneuropathy due to drug skos:exactMatch UMLS:C0154762 semapv:UnspecifiedMatching MONDO:0001905 bicipital tenosynovitis skos:exactMatch DOID:14192 bicipital tenosynovitis semapv:UnspecifiedMatching MONDO:0001905 bicipital tenosynovitis skos:exactMatch SCTID:41137001 semapv:UnspecifiedMatching MONDO:0001905 bicipital tenosynovitis skos:exactMatch UMLS:C0158304 semapv:UnspecifiedMatching MONDO:0001906 posterior dislocation of lens skos:exactMatch DOID:14199 posterior dislocation of lens semapv:UnspecifiedMatching MONDO:0001906 posterior dislocation of lens skos:exactMatch SCTID:14169000 semapv:UnspecifiedMatching MONDO:0001906 posterior dislocation of lens skos:exactMatch UMLS:C0155373 semapv:UnspecifiedMatching MONDO:0001907 adult dermatomyositis skos:exactMatch DOID:14202 adult dermatomyositis semapv:UnspecifiedMatching MONDO:0001907 adult dermatomyositis skos:exactMatch NCIT:C27313 Adult Dermatomyositis semapv:UnspecifiedMatching MONDO:0001907 adult dermatomyositis skos:exactMatch SCTID:402425006 semapv:UnspecifiedMatching MONDO:0001909 renal tubular acidosis skos:exactMatch DOID:14219 renal tubular acidosis semapv:UnspecifiedMatching MONDO:0001909 renal tubular acidosis skos:exactMatch SCTID:1776003 semapv:UnspecifiedMatching MONDO:0001909 renal tubular acidosis skos:exactMatch UMLS:C0001126 semapv:UnspecifiedMatching MONDO:0001909 renal tubular acidosis skos:exactMatch mesh:D000141 semapv:UnspecifiedMatching MONDO:0001910 ochronosis disorder skos:exactMatch DOID:14223 ochronosis semapv:UnspecifiedMatching MONDO:0001910 ochronosis disorder skos:exactMatch NCIT:C84938 Ochronosis semapv:UnspecifiedMatching MONDO:0001910 ochronosis disorder skos:exactMatch SCTID:410042009 semapv:UnspecifiedMatching MONDO:0001910 ochronosis disorder skos:exactMatch UMLS:C0028817 semapv:UnspecifiedMatching MONDO:0001910 ochronosis disorder skos:exactMatch mesh:D009794 semapv:UnspecifiedMatching MONDO:0001911 tracheal calcification skos:exactMatch DOID:14224 tracheal calcification semapv:UnspecifiedMatching MONDO:0001911 tracheal calcification skos:exactMatch SCTID:81089005 semapv:UnspecifiedMatching MONDO:0001911 tracheal calcification skos:exactMatch UMLS:C0264324 semapv:UnspecifiedMatching MONDO:0001912 acute frontal sinusitis skos:exactMatch DOID:14225 acute frontal sinusitis semapv:UnspecifiedMatching MONDO:0001912 acute frontal sinusitis skos:exactMatch ICD10CM:J01.1 Acute frontal sinusitis semapv:UnspecifiedMatching MONDO:0001912 acute frontal sinusitis skos:exactMatch SCTID:91038008 semapv:UnspecifiedMatching MONDO:0001912 acute frontal sinusitis skos:exactMatch UMLS:C0155805 semapv:UnspecifiedMatching MONDO:0001913 oligospermia skos:exactMatch DOID:14228 oligospermia semapv:UnspecifiedMatching MONDO:0001913 oligospermia skos:exactMatch UMLS:C0028960 semapv:UnspecifiedMatching MONDO:0001913 oligospermia skos:exactMatch mesh:D009845 semapv:UnspecifiedMatching MONDO:0001914 scleromalacia perforans skos:exactMatch DOID:14230 scleromalacia perforans semapv:UnspecifiedMatching MONDO:0001914 scleromalacia perforans skos:exactMatch SCTID:26664005 semapv:UnspecifiedMatching MONDO:0001914 scleromalacia perforans skos:exactMatch UMLS:C0155354 semapv:UnspecifiedMatching MONDO:0001915 orbital cyst skos:exactMatch DOID:14233 orbital cyst semapv:UnspecifiedMatching MONDO:0001915 orbital cyst skos:exactMatch SCTID:31021007 semapv:UnspecifiedMatching MONDO:0001915 orbital cyst skos:exactMatch UMLS:C0155285 semapv:UnspecifiedMatching MONDO:0001916 gastrointestinal tularemia skos:exactMatch DOID:14239 gastrointestinal tularemia semapv:UnspecifiedMatching MONDO:0001916 gastrointestinal tularemia skos:exactMatch ICD10CM:A21.3 Gastrointestinal tularemia semapv:UnspecifiedMatching MONDO:0001917 chronic perichondritis of pinna skos:exactMatch DOID:14243 chronic perichondritis of pinna semapv:UnspecifiedMatching MONDO:0001917 chronic perichondritis of pinna skos:exactMatch SCTID:45431004 semapv:UnspecifiedMatching MONDO:0001917 chronic perichondritis of pinna skos:exactMatch UMLS:C0155391 semapv:UnspecifiedMatching MONDO:0001918 epiphora due to excess lacrimation skos:exactMatch DOID:14244 epiphora due to excess lacrimation semapv:UnspecifiedMatching MONDO:0001918 epiphora due to excess lacrimation skos:exactMatch SCTID:31788005 semapv:UnspecifiedMatching MONDO:0001918 epiphora due to excess lacrimation skos:exactMatch UMLS:C0155233 semapv:UnspecifiedMatching MONDO:0001919 cystoid macular retinal degeneration skos:exactMatch DOID:14245 cystoid macular retinal degeneration semapv:UnspecifiedMatching MONDO:0001919 cystoid macular retinal degeneration skos:exactMatch SCTID:14046000 semapv:UnspecifiedMatching MONDO:0001919 cystoid macular retinal degeneration skos:exactMatch UMLS:C0154850 semapv:UnspecifiedMatching MONDO:0001920 chronic purulent otitis media skos:exactMatch DOID:14247 chronic purulent otitis media semapv:UnspecifiedMatching MONDO:0001920 chronic purulent otitis media skos:exactMatch NCIT:C128386 Chronic Suppurative Otitis Media semapv:UnspecifiedMatching MONDO:0001920 chronic purulent otitis media skos:exactMatch SCTID:38394007 semapv:UnspecifiedMatching MONDO:0001920 chronic purulent otitis media skos:exactMatch UMLS:C0271454 semapv:UnspecifiedMatching MONDO:0001921 chronic atticoantral disease skos:exactMatch DOID:14248 chronic atticoantral disease semapv:UnspecifiedMatching MONDO:0001921 chronic atticoantral disease skos:exactMatch SCTID:267759006 semapv:UnspecifiedMatching MONDO:0001921 chronic atticoantral disease skos:exactMatch UMLS:C0155441 semapv:UnspecifiedMatching MONDO:0001922 pyoureter skos:exactMatch DOID:1425 pyoureter semapv:UnspecifiedMatching MONDO:0001922 pyoureter skos:exactMatch NCIT:C35666 Ureter Abscess semapv:UnspecifiedMatching MONDO:0001922 pyoureter skos:exactMatch SCTID:85884009 semapv:UnspecifiedMatching MONDO:0001922 pyoureter skos:exactMatch UMLS:C0034223 semapv:UnspecifiedMatching MONDO:0001923 vitreoretinal dystrophy skos:exactMatch DOID:14251 vitreoretinal dystrophy semapv:UnspecifiedMatching MONDO:0001923 vitreoretinal dystrophy skos:exactMatch ICD10CM:H35.51 Vitreoretinal dystrophy semapv:UnspecifiedMatching MONDO:0001923 vitreoretinal dystrophy skos:exactMatch SCTID:79556007 semapv:UnspecifiedMatching MONDO:0001923 vitreoretinal dystrophy skos:exactMatch UMLS:C0154863 semapv:UnspecifiedMatching MONDO:0001924 dystrophies primarily involving the retinal pigment epithelium skos:exactMatch DOID:14252 dystrophies primarily involving the retinal pigment epithelium semapv:UnspecifiedMatching MONDO:0001924 dystrophies primarily involving the retinal pigment epithelium skos:exactMatch ICD10CM:H35.54 Dystrophies primarily involving the retinal pigment epithelium semapv:UnspecifiedMatching MONDO:0001925 retinal dystrophy in systemic or cerebroretinal lipidoses skos:exactMatch DOID:14253 retinal dystrophy in systemic or cerebroretinal lipidoses semapv:UnspecifiedMatching MONDO:0001926 ureteral disorder skos:exactMatch DOID:1426 ureteral disease semapv:UnspecifiedMatching MONDO:0001926 ureteral disorder skos:exactMatch NCIT:C27148 Ureter Disorder semapv:UnspecifiedMatching MONDO:0001926 ureteral disorder skos:exactMatch SCTID:128073008 semapv:UnspecifiedMatching MONDO:0001926 ureteral disorder skos:exactMatch UMLS:C0041954 semapv:UnspecifiedMatching MONDO:0001926 ureteral disorder skos:exactMatch UMLS:C0403608 semapv:UnspecifiedMatching MONDO:0001926 ureteral disorder skos:exactMatch mesh:D014515 semapv:UnspecifiedMatching MONDO:0001927 pulmonary valve insufficiency skos:exactMatch DOID:14265 pulmonary valve insufficiency semapv:UnspecifiedMatching MONDO:0001927 pulmonary valve insufficiency skos:exactMatch NCIT:C50848 Pulmonary Valvular Regurgitation semapv:UnspecifiedMatching MONDO:0001927 pulmonary valve insufficiency skos:exactMatch SCTID:194995005 semapv:UnspecifiedMatching MONDO:0001927 pulmonary valve insufficiency skos:exactMatch mesh:D011665 semapv:UnspecifiedMatching MONDO:0001928 suppurative cholangitis skos:exactMatch DOID:14269 suppurative cholangitis semapv:UnspecifiedMatching MONDO:0001928 suppurative cholangitis skos:exactMatch NCIT:C35336 Suppurative Cholangitis semapv:UnspecifiedMatching MONDO:0001928 suppurative cholangitis skos:exactMatch SCTID:69850007 semapv:UnspecifiedMatching MONDO:0001928 suppurative cholangitis skos:exactMatch UMLS:C0267924 semapv:UnspecifiedMatching MONDO:0001929 ascending cholangitis skos:exactMatch DOID:14270 ascending cholangitis semapv:UnspecifiedMatching MONDO:0001929 ascending cholangitis skos:exactMatch NCIT:C35372 Ascending Cholangitis semapv:UnspecifiedMatching MONDO:0001929 ascending cholangitis skos:exactMatch SCTID:26918003 semapv:UnspecifiedMatching MONDO:0001929 ascending cholangitis skos:exactMatch UMLS:C0311273 semapv:UnspecifiedMatching MONDO:0001930 acute cholangitis skos:exactMatch DOID:14271 acute cholangitis semapv:UnspecifiedMatching MONDO:0001930 acute cholangitis skos:exactMatch NCIT:C35334 Acute Cholangitis semapv:UnspecifiedMatching MONDO:0001930 acute cholangitis skos:exactMatch SCTID:6215006 semapv:UnspecifiedMatching MONDO:0001930 acute cholangitis skos:exactMatch UMLS:C0267917 semapv:UnspecifiedMatching MONDO:0001931 pericholangitis skos:exactMatch DOID:14272 pericholangitis semapv:UnspecifiedMatching MONDO:0001931 pericholangitis skos:exactMatch NCIT:C34916 Pericholangitis semapv:UnspecifiedMatching MONDO:0001931 pericholangitis skos:exactMatch SCTID:111373008 semapv:UnspecifiedMatching MONDO:0001931 pericholangitis skos:exactMatch UMLS:C0031052 semapv:UnspecifiedMatching MONDO:0001932 obsolete atrophic vulva skos:exactMatch DOID:14275 atrophic vulva semapv:UnspecifiedMatching MONDO:0001932 obsolete atrophic vulva skos:exactMatch ICD10CM:N90.5 Atrophy of vulva semapv:UnspecifiedMatching MONDO:0001932 obsolete atrophic vulva skos:exactMatch SCTID:248861000 semapv:UnspecifiedMatching MONDO:0001932 obsolete atrophic vulva skos:exactMatch UMLS:C0156393 semapv:UnspecifiedMatching MONDO:0001933 endocrine pancreas disorder skos:exactMatch DOID:1428 endocrine pancreas disease semapv:UnspecifiedMatching MONDO:0001933 endocrine pancreas disorder skos:exactMatch NCIT:C27067 Endocrine Pancreas Disorder semapv:UnspecifiedMatching MONDO:0001933 endocrine pancreas disorder skos:exactMatch SCTID:17346000 semapv:UnspecifiedMatching MONDO:0001933 endocrine pancreas disorder skos:exactMatch UMLS:C0271633 semapv:UnspecifiedMatching MONDO:0001935 neurogenic arthropathy skos:exactMatch DOID:14286 neurogenic arthropathy semapv:UnspecifiedMatching MONDO:0001935 neurogenic arthropathy skos:exactMatch SCTID:359554008 semapv:UnspecifiedMatching MONDO:0001935 neurogenic arthropathy skos:exactMatch UMLS:C0003892 semapv:UnspecifiedMatching MONDO:0001935 neurogenic arthropathy skos:exactMatch mesh:D001177 semapv:UnspecifiedMatching MONDO:0001936 brawny scleritis skos:exactMatch DOID:14287 brawny scleritis semapv:UnspecifiedMatching MONDO:0001936 brawny scleritis skos:exactMatch SCTID:91612009 semapv:UnspecifiedMatching MONDO:0001936 brawny scleritis skos:exactMatch UMLS:C0155356 semapv:UnspecifiedMatching MONDO:0001938 vulvar dystrophy skos:exactMatch DOID:14292 vulvar dystrophy semapv:UnspecifiedMatching MONDO:0001938 vulvar dystrophy skos:exactMatch NCIT:C34565 Vulvar Dystrophy semapv:UnspecifiedMatching MONDO:0001938 vulvar dystrophy skos:exactMatch SCTID:51689003 semapv:UnspecifiedMatching MONDO:0001938 vulvar dystrophy skos:exactMatch UMLS:C0013426 semapv:UnspecifiedMatching MONDO:0001939 skin epithelioid hemangioma skos:exactMatch DOID:14308 skin epithelioid hemangioma semapv:UnspecifiedMatching MONDO:0001939 skin epithelioid hemangioma skos:exactMatch NCIT:C7393 Skin Epithelioid Hemangioma semapv:UnspecifiedMatching MONDO:0001939 skin epithelioid hemangioma skos:exactMatch SCTID:400131007 semapv:UnspecifiedMatching MONDO:0001939 skin epithelioid hemangioma skos:exactMatch UMLS:C0002989 semapv:UnspecifiedMatching MONDO:0001940 pleuropneumonia skos:exactMatch DOID:14319 pleuropneumonia semapv:UnspecifiedMatching MONDO:0001940 pleuropneumonia skos:exactMatch SCTID:60485005 semapv:UnspecifiedMatching MONDO:0001940 pleuropneumonia skos:exactMatch UMLS:C0032241 semapv:UnspecifiedMatching MONDO:0001940 pleuropneumonia skos:exactMatch mesh:D011001 semapv:UnspecifiedMatching MONDO:0001941 blindness (disorder) skos:exactMatch DOID:1432 blindness semapv:UnspecifiedMatching MONDO:0001941 blindness (disorder) skos:exactMatch ICD10CM:H54 Blindness and low vision semapv:UnspecifiedMatching MONDO:0001941 blindness (disorder) skos:exactMatch NCIT:C97109 Blindness semapv:UnspecifiedMatching MONDO:0001941 blindness (disorder) skos:exactMatch SCTID:105597003 semapv:UnspecifiedMatching MONDO:0001941 blindness (disorder) skos:exactMatch mesh:D001766 semapv:UnspecifiedMatching MONDO:0001942 generalized anxiety disorder skos:exactMatch DOID:14320 generalized anxiety disorder semapv:UnspecifiedMatching MONDO:0001942 generalized anxiety disorder skos:exactMatch ICD10CM:F41.1 Generalized anxiety disorder semapv:UnspecifiedMatching MONDO:0001942 generalized anxiety disorder skos:exactMatch NCIT:C92622 Generalized Anxiety Disorder semapv:UnspecifiedMatching MONDO:0001942 generalized anxiety disorder skos:exactMatch SCTID:21897009 semapv:UnspecifiedMatching MONDO:0001943 Plasmodium malariae malaria skos:exactMatch DOID:14324 Plasmodium malariae malaria semapv:UnspecifiedMatching MONDO:0001943 Plasmodium malariae malaria skos:exactMatch ICD10CM:B52 Plasmodium malariae malaria semapv:UnspecifiedMatching MONDO:0001943 Plasmodium malariae malaria skos:exactMatch NCIT:C34799 Quartan Malaria semapv:UnspecifiedMatching MONDO:0001943 Plasmodium malariae malaria skos:exactMatch SCTID:27618009 semapv:UnspecifiedMatching MONDO:0001943 Plasmodium malariae malaria skos:exactMatch UMLS:C0024536 semapv:UnspecifiedMatching MONDO:0001944 mixed malaria skos:exactMatch DOID:14325 mixed malaria semapv:UnspecifiedMatching MONDO:0001944 mixed malaria skos:exactMatch SCTID:21070001 semapv:UnspecifiedMatching MONDO:0001944 mixed malaria skos:exactMatch UMLS:C0153121 semapv:UnspecifiedMatching MONDO:0001945 postencephalitic Parkinson disease skos:exactMatch DOID:14332 postencephalitic Parkinson disease semapv:UnspecifiedMatching MONDO:0001945 postencephalitic Parkinson disease skos:exactMatch NCIT:C34898 Postencephalitic Parkinsonism semapv:UnspecifiedMatching MONDO:0001945 postencephalitic Parkinson disease skos:exactMatch Orphanet:97349 Postencephalitic parkinsonism semapv:UnspecifiedMatching MONDO:0001945 postencephalitic Parkinson disease skos:exactMatch SCTID:19972008 semapv:UnspecifiedMatching MONDO:0001945 postencephalitic Parkinson disease skos:exactMatch UMLS:C0030568 semapv:UnspecifiedMatching MONDO:0001945 postencephalitic Parkinson disease skos:exactMatch mesh:D010301 semapv:UnspecifiedMatching MONDO:0001946 obsolete hyperestrogenism skos:exactMatch DOID:14336 estrogen excess semapv:UnspecifiedMatching MONDO:0001946 obsolete hyperestrogenism skos:exactMatch ICD10CM:E28.0 Estrogen excess semapv:UnspecifiedMatching MONDO:0001946 obsolete hyperestrogenism skos:exactMatch ICD10WHO:E28.0 Ovarian dysfunction: Estrogen excess semapv:UnspecifiedMatching MONDO:0001946 obsolete hyperestrogenism skos:exactMatch SCTID:37295009 semapv:UnspecifiedMatching MONDO:0001946 obsolete hyperestrogenism skos:exactMatch UMLS:C0154209 semapv:UnspecifiedMatching MONDO:0001947 suppurative thyroiditis skos:exactMatch DOID:14350 suppurative thyroiditis semapv:UnspecifiedMatching MONDO:0001947 suppurative thyroiditis skos:exactMatch NCIT:C129724 Acute Suppurative Thyroiditis semapv:UnspecifiedMatching MONDO:0001947 suppurative thyroiditis skos:exactMatch SCTID:25476006 semapv:UnspecifiedMatching MONDO:0001947 suppurative thyroiditis skos:exactMatch UMLS:C0040150 semapv:UnspecifiedMatching MONDO:0001947 suppurative thyroiditis skos:exactMatch mesh:D013969 semapv:UnspecifiedMatching MONDO:0001949 acute thyroiditis skos:exactMatch DOID:14353 acute thyroiditis semapv:UnspecifiedMatching MONDO:0001949 acute thyroiditis skos:exactMatch ICD10CM:E06.0 Acute thyroiditis semapv:UnspecifiedMatching MONDO:0001949 acute thyroiditis skos:exactMatch SCTID:190293001 semapv:UnspecifiedMatching MONDO:0001949 acute thyroiditis skos:exactMatch UMLS:C0001360 semapv:UnspecifiedMatching MONDO:0001950 corneal ectasia skos:exactMatch DOID:1436 corneal ectasia semapv:UnspecifiedMatching MONDO:0001950 corneal ectasia skos:exactMatch SCTID:14748007 semapv:UnspecifiedMatching MONDO:0001950 corneal ectasia skos:exactMatch UMLS:C0155135 semapv:UnspecifiedMatching MONDO:0001951 Norwegian scabies skos:exactMatch DOID:14374 norwegian scabies semapv:UnspecifiedMatching MONDO:0001951 Norwegian scabies skos:exactMatch NCIT:C34855 Norwegian Scabies semapv:UnspecifiedMatching MONDO:0001951 Norwegian scabies skos:exactMatch SCTID:128870005 semapv:UnspecifiedMatching MONDO:0001951 Norwegian scabies skos:exactMatch UMLS:C0028425 semapv:UnspecifiedMatching MONDO:0001952 parietal lobe cancer skos:exactMatch DOID:14384 parietal lobe neoplasm semapv:UnspecifiedMatching MONDO:0001952 parietal lobe cancer skos:exactMatch ICD10CM:C71.3 Malignant neoplasm of parietal lobe semapv:UnspecifiedMatching MONDO:0001952 parietal lobe cancer skos:exactMatch SCTID:363469001 semapv:UnspecifiedMatching MONDO:0001952 parietal lobe cancer skos:exactMatch UMLS:C0153637 semapv:UnspecifiedMatching MONDO:0001953 pyuria skos:exactMatch DOID:1439 pyuria semapv:UnspecifiedMatching MONDO:0001953 pyuria skos:exactMatch mesh:D011776 semapv:UnspecifiedMatching MONDO:0001954 thrombophlebitis migrans skos:exactMatch DOID:14392 thrombophlebitis migrans semapv:UnspecifiedMatching MONDO:0001954 thrombophlebitis migrans skos:exactMatch ICD10CM:I82.1 Thrombophlebitis migrans semapv:UnspecifiedMatching MONDO:0001954 thrombophlebitis migrans skos:exactMatch SCTID:31268005 semapv:UnspecifiedMatching MONDO:0001954 thrombophlebitis migrans skos:exactMatch UMLS:C0152250 semapv:UnspecifiedMatching MONDO:0001955 protozoal dysentery skos:exactMatch DOID:14397 protozoal dysentery semapv:UnspecifiedMatching MONDO:0001956 capillary leak syndrome skos:exactMatch DOID:14400 capillary leak syndrome semapv:UnspecifiedMatching MONDO:0001956 capillary leak syndrome skos:exactMatch NCIT:C62578 Capillary Leak Syndrome semapv:UnspecifiedMatching MONDO:0001956 capillary leak syndrome skos:exactMatch Orphanet:188 Systemic capillary leak syndrome semapv:UnspecifiedMatching MONDO:0001956 capillary leak syndrome skos:exactMatch SCTID:87730004 semapv:UnspecifiedMatching MONDO:0001956 capillary leak syndrome skos:exactMatch UMLS:C0343084 semapv:UnspecifiedMatching MONDO:0001956 capillary leak syndrome skos:exactMatch mesh:D019559 semapv:UnspecifiedMatching MONDO:0001957 critical illness polyneuropathy skos:exactMatch DOID:14402 critical illness polyneuropathy semapv:UnspecifiedMatching MONDO:0001957 critical illness polyneuropathy skos:exactMatch ICD10CM:G62.81 Critical illness polyneuropathy semapv:UnspecifiedMatching MONDO:0001957 critical illness polyneuropathy skos:exactMatch SCTID:230594005 semapv:UnspecifiedMatching MONDO:0001957 critical illness polyneuropathy skos:exactMatch UMLS:C0393851 semapv:UnspecifiedMatching MONDO:0001959 labyrinthine bilateral reactive loss skos:exactMatch DOID:14413 labyrinthine bilateral reactive loss semapv:UnspecifiedMatching MONDO:0001959 labyrinthine bilateral reactive loss skos:exactMatch SCTID:194377001 semapv:UnspecifiedMatching MONDO:0001959 labyrinthine bilateral reactive loss skos:exactMatch UMLS:C0155520 semapv:UnspecifiedMatching MONDO:0001962 abnormality of glucagon secretion skos:exactMatch DOID:14427 abnormality of glucagon secretion semapv:UnspecifiedMatching MONDO:0001962 abnormality of glucagon secretion skos:exactMatch SCTID:11178005 semapv:UnspecifiedMatching MONDO:0001962 abnormality of glucagon secretion skos:exactMatch UMLS:C0154191 semapv:UnspecifiedMatching MONDO:0001964 chronic tubotympanic suppurative otitis media skos:exactMatch DOID:14435 chronic tubotympanic suppurative otitis media semapv:UnspecifiedMatching MONDO:0001964 chronic tubotympanic suppurative otitis media skos:exactMatch ICD10CM:H66.1 Chronic tubotympanic suppurative otitis media semapv:UnspecifiedMatching MONDO:0001964 chronic tubotympanic suppurative otitis media skos:exactMatch SCTID:87665008 semapv:UnspecifiedMatching MONDO:0001964 chronic tubotympanic suppurative otitis media skos:exactMatch UMLS:C0155440 semapv:UnspecifiedMatching MONDO:0001965 sclerosing keratitis skos:exactMatch DOID:14444 sclerosing keratitis semapv:UnspecifiedMatching MONDO:0001965 sclerosing keratitis skos:exactMatch SCTID:27886001 semapv:UnspecifiedMatching MONDO:0001965 sclerosing keratitis skos:exactMatch UMLS:C0155090 semapv:UnspecifiedMatching MONDO:0001966 chronic closed-angle glaucoma skos:exactMatch DOID:14445 chronic closed-angle glaucoma semapv:UnspecifiedMatching MONDO:0001966 chronic closed-angle glaucoma skos:exactMatch SCTID:33647009 semapv:UnspecifiedMatching MONDO:0001966 chronic closed-angle glaucoma skos:exactMatch UMLS:C0154947 semapv:UnspecifiedMatching MONDO:0001967 gonadal dysgenesis skos:exactMatch DOID:14447 gonadal dysgenesis semapv:UnspecifiedMatching MONDO:0001967 gonadal dysgenesis skos:exactMatch NCIT:C61420 Gonadal Dysgenesis semapv:UnspecifiedMatching MONDO:0001967 gonadal dysgenesis skos:exactMatch SCTID:205681004 semapv:UnspecifiedMatching MONDO:0001967 gonadal dysgenesis skos:exactMatch mesh:D006059 semapv:UnspecifiedMatching MONDO:0001969 mixed gonadal dysgenesis skos:exactMatch DOID:14449 mixed gonadal dysgenesis semapv:UnspecifiedMatching MONDO:0001969 mixed gonadal dysgenesis skos:exactMatch SCTID:83579008 semapv:UnspecifiedMatching MONDO:0001969 mixed gonadal dysgenesis skos:exactMatch UMLS:C0018055 semapv:UnspecifiedMatching MONDO:0001969 mixed gonadal dysgenesis skos:exactMatch mesh:D006060 semapv:UnspecifiedMatching MONDO:0001971 farmer's lung disease skos:exactMatch DOID:14453 farmer's lung semapv:UnspecifiedMatching MONDO:0001971 farmer's lung disease skos:exactMatch NCIT:C34605 Farmer's Lung semapv:UnspecifiedMatching MONDO:0001971 farmer's lung disease skos:exactMatch Orphanet:99906 Farmer's lung disease semapv:UnspecifiedMatching MONDO:0001971 farmer's lung disease skos:exactMatch SCTID:18690003 semapv:UnspecifiedMatching MONDO:0001971 farmer's lung disease skos:exactMatch UMLS:C0015634 semapv:UnspecifiedMatching MONDO:0001972 Brucella melitensis brucellosis skos:exactMatch DOID:14456 Brucella melitensis brucellosis semapv:UnspecifiedMatching MONDO:0001972 Brucella melitensis brucellosis skos:exactMatch SCTID:427999003 semapv:UnspecifiedMatching MONDO:0001972 Brucella melitensis brucellosis skos:exactMatch UMLS:C0302362 semapv:UnspecifiedMatching MONDO:0001973 Brucella abortus brucellosis skos:exactMatch DOID:14457 Brucella abortus brucellosis semapv:UnspecifiedMatching MONDO:0001973 Brucella abortus brucellosis skos:exactMatch SCTID:427795000 semapv:UnspecifiedMatching MONDO:0001974 hemangioma of orbit skos:exactMatch DOID:14459 hemangioma of orbit semapv:UnspecifiedMatching MONDO:0001974 hemangioma of orbit skos:exactMatch NCIT:C6245 Orbit Hemangioma semapv:UnspecifiedMatching MONDO:0001974 hemangioma of orbit skos:exactMatch SCTID:121951000119101 semapv:UnspecifiedMatching MONDO:0001974 hemangioma of orbit skos:exactMatch UMLS:C1335128 semapv:UnspecifiedMatching MONDO:0001975 cavernous hemangioma of orbit skos:exactMatch DOID:14463 cavernous hemangioma of orbit semapv:UnspecifiedMatching MONDO:0001975 cavernous hemangioma of orbit skos:exactMatch NCIT:C4546 Orbit Cavernous Hemangioma semapv:UnspecifiedMatching MONDO:0001975 cavernous hemangioma of orbit skos:exactMatch SCTID:254998002 semapv:UnspecifiedMatching MONDO:0001975 cavernous hemangioma of orbit skos:exactMatch UMLS:C0346352 semapv:UnspecifiedMatching MONDO:0001976 chorea gravidarum skos:exactMatch DOID:14483 chorea gravidarum semapv:UnspecifiedMatching MONDO:0001976 chorea gravidarum skos:exactMatch SCTID:25113000 semapv:UnspecifiedMatching MONDO:0001976 chorea gravidarum skos:exactMatch UMLS:C0264746 semapv:UnspecifiedMatching MONDO:0001976 chorea gravidarum skos:exactMatch mesh:D020150 semapv:UnspecifiedMatching MONDO:0001977 ureteral lymphoma skos:exactMatch DOID:14489 ureteral lymphoma semapv:UnspecifiedMatching MONDO:0001977 ureteral lymphoma skos:exactMatch NCIT:C6175 Ureter Lymphoma semapv:UnspecifiedMatching MONDO:0001977 ureteral lymphoma skos:exactMatch UMLS:C1336876 semapv:UnspecifiedMatching MONDO:0001978 regional ureteric cancer skos:exactMatch DOID:14491 regional ureteric cancer semapv:UnspecifiedMatching MONDO:0001978 regional ureteric cancer skos:exactMatch NCIT:C9356 Regional Ureter Carcinoma semapv:UnspecifiedMatching MONDO:0001978 regional ureteric cancer skos:exactMatch UMLS:C0854921 semapv:UnspecifiedMatching MONDO:0001979 dumping syndrome skos:exactMatch DOID:14495 dumping syndrome semapv:UnspecifiedMatching MONDO:0001979 dumping syndrome skos:exactMatch NCIT:C2994 Dumping Syndrome semapv:UnspecifiedMatching MONDO:0001979 dumping syndrome skos:exactMatch UMLS:C0013288 semapv:UnspecifiedMatching MONDO:0001979 dumping syndrome skos:exactMatch mesh:D004377 semapv:UnspecifiedMatching MONDO:0001982 Niemann-Pick disease skos:exactMatch DOID:14504 Niemann-Pick disease semapv:UnspecifiedMatching MONDO:0001982 Niemann-Pick disease skos:exactMatch NCIT:C61269 Niemann-Pick Disease semapv:UnspecifiedMatching MONDO:0001982 Niemann-Pick disease skos:exactMatch SCTID:58459009 semapv:UnspecifiedMatching MONDO:0001982 Niemann-Pick disease skos:exactMatch UMLS:C0028064 semapv:UnspecifiedMatching MONDO:0001982 Niemann-Pick disease skos:exactMatch mesh:D009542 semapv:UnspecifiedMatching MONDO:0001983 peripheral degeneration of cornea skos:exactMatch DOID:14507 peripheral degeneration of cornea semapv:UnspecifiedMatching MONDO:0001983 peripheral degeneration of cornea skos:exactMatch SCTID:89182000 semapv:UnspecifiedMatching MONDO:0001983 peripheral degeneration of cornea skos:exactMatch UMLS:C0155123 semapv:UnspecifiedMatching MONDO:0001984 candidal paronychia skos:exactMatch DOID:14512 candidal paronychia semapv:UnspecifiedMatching MONDO:0001984 candidal paronychia skos:exactMatch SCTID:187014000 semapv:UnspecifiedMatching MONDO:0001984 candidal paronychia skos:exactMatch UMLS:C1282977 semapv:UnspecifiedMatching MONDO:0001985 partial arterial retinal occlusion skos:exactMatch DOID:14522 partial arterial retinal occlusion semapv:UnspecifiedMatching MONDO:0001985 partial arterial retinal occlusion skos:exactMatch NCIT:C35192 Partial Retinal Arterial Occlusion semapv:UnspecifiedMatching MONDO:0001985 partial arterial retinal occlusion skos:exactMatch SCTID:776009 semapv:UnspecifiedMatching MONDO:0001985 partial arterial retinal occlusion skos:exactMatch UMLS:C0154839 semapv:UnspecifiedMatching MONDO:0001986 Argyll Robertson pupil skos:exactMatch DOID:14523 Argyll Robertson pupil semapv:UnspecifiedMatching MONDO:0001986 Argyll Robertson pupil skos:exactMatch ICD10CM:H57.01 Argyll Robertson pupil, atypical semapv:UnspecifiedMatching MONDO:0001986 Argyll Robertson pupil skos:exactMatch SCTID:21011008 semapv:UnspecifiedMatching MONDO:0001986 Argyll Robertson pupil skos:exactMatch UMLS:C0234668 semapv:UnspecifiedMatching MONDO:0001987 senile degeneration of brain skos:exactMatch DOID:14524 senile degeneration of brain semapv:UnspecifiedMatching MONDO:0001987 senile degeneration of brain skos:exactMatch SCTID:45864009 semapv:UnspecifiedMatching MONDO:0001987 senile degeneration of brain skos:exactMatch UMLS:C0154669 semapv:UnspecifiedMatching MONDO:0001988 external pathological resorption skos:exactMatch DOID:14529 external pathological resorption semapv:UnspecifiedMatching MONDO:0001988 external pathological resorption skos:exactMatch SCTID:41918006 semapv:UnspecifiedMatching MONDO:0001988 external pathological resorption skos:exactMatch UMLS:C0266878 semapv:UnspecifiedMatching MONDO:0001989 atrophic glossitis skos:exactMatch DOID:1453 atrophic glossitis semapv:UnspecifiedMatching MONDO:0001989 atrophic glossitis skos:exactMatch ICD10CM:K14.4 Atrophy of tongue papillae semapv:UnspecifiedMatching MONDO:0001989 atrophic glossitis skos:exactMatch SCTID:9491003 semapv:UnspecifiedMatching MONDO:0001989 atrophic glossitis skos:exactMatch UMLS:C0155964 semapv:UnspecifiedMatching MONDO:0001990 malignant cardiac peripheral nerve sheath neoplasm skos:exactMatch DOID:14534 malignant cardiac peripheral nerve sheath neoplasm semapv:UnspecifiedMatching MONDO:0001990 malignant cardiac peripheral nerve sheath neoplasm skos:exactMatch NCIT:C5367 Cardiac Malignant Peripheral Nerve Sheath Tumor semapv:UnspecifiedMatching MONDO:0001990 malignant cardiac peripheral nerve sheath neoplasm skos:exactMatch UMLS:C1334569 semapv:UnspecifiedMatching MONDO:0001991 malignant cardiac germ cell tumor skos:exactMatch DOID:14535 malignant cardiac germ cell tumor semapv:UnspecifiedMatching MONDO:0001991 malignant cardiac germ cell tumor skos:exactMatch NCIT:C5371 Malignant Cardiac Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0001991 malignant cardiac germ cell tumor skos:exactMatch UMLS:C1334566 semapv:UnspecifiedMatching MONDO:0001992 rete testis adenocarcinoma skos:exactMatch DOID:14544 rete testis adenocarcinoma semapv:UnspecifiedMatching MONDO:0001992 rete testis adenocarcinoma skos:exactMatch NCIT:C8955 Rete Testis Adenocarcinoma semapv:UnspecifiedMatching MONDO:0001992 rete testis adenocarcinoma skos:exactMatch UMLS:C0863024 semapv:UnspecifiedMatching MONDO:0001993 seminal vesicle adenocarcinoma skos:exactMatch DOID:14545 seminal vesicle adenocarcinoma semapv:UnspecifiedMatching MONDO:0001993 seminal vesicle adenocarcinoma skos:exactMatch NCIT:C39906 Seminal Vesicle Adenocarcinoma semapv:UnspecifiedMatching MONDO:0001993 seminal vesicle adenocarcinoma skos:exactMatch UMLS:C1519233 semapv:UnspecifiedMatching MONDO:0001994 sphenoidal sinus cancer skos:exactMatch DOID:14546 sphenoidal sinus cancer semapv:UnspecifiedMatching MONDO:0001994 sphenoidal sinus cancer skos:exactMatch ICD10CM:C31.3 Malignant neoplasm of sphenoid sinus semapv:UnspecifiedMatching MONDO:0001994 sphenoidal sinus cancer skos:exactMatch NCIT:C3543 Malignant Sphenoid Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0001994 sphenoidal sinus cancer skos:exactMatch SCTID:363428005 semapv:UnspecifiedMatching MONDO:0001994 sphenoidal sinus cancer skos:exactMatch UMLS:C0153479 semapv:UnspecifiedMatching MONDO:0001995 sphenoid sinus squamous cell carcinoma skos:exactMatch DOID:14547 sphenoid sinus squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0001995 sphenoid sinus squamous cell carcinoma skos:exactMatch NCIT:C6066 Sphenoid Sinus Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0001995 sphenoid sinus squamous cell carcinoma skos:exactMatch SCTID:707355002 semapv:UnspecifiedMatching MONDO:0001995 sphenoid sinus squamous cell carcinoma skos:exactMatch UMLS:C1336039 semapv:UnspecifiedMatching MONDO:0001996 steroid-induced glaucoma - borderline skos:exactMatch DOID:14548 steroid-induced glaucoma - borderline semapv:UnspecifiedMatching MONDO:0001996 steroid-induced glaucoma - borderline skos:exactMatch SCTID:302895007 semapv:UnspecifiedMatching MONDO:0001996 steroid-induced glaucoma - borderline skos:exactMatch UMLS:C0339572 semapv:UnspecifiedMatching MONDO:0001997 root resorption skos:exactMatch DOID:14550 root resorption semapv:UnspecifiedMatching MONDO:0001997 root resorption skos:exactMatch UMLS:C0035851 semapv:UnspecifiedMatching MONDO:0001997 root resorption skos:exactMatch mesh:D012391 semapv:UnspecifiedMatching MONDO:0001998 Foster-Kennedy syndrome skos:exactMatch DOID:14555 Foster-Kennedy syndrome semapv:UnspecifiedMatching MONDO:0001998 Foster-Kennedy syndrome skos:exactMatch SCTID:87764000 semapv:UnspecifiedMatching MONDO:0001998 Foster-Kennedy syndrome skos:exactMatch UMLS:C0152112 semapv:UnspecifiedMatching MONDO:0001999 primary pulmonary hypertension skos:exactMatch DOID:14557 primary pulmonary hypertension semapv:UnspecifiedMatching MONDO:0001999 primary pulmonary hypertension skos:exactMatch ICD10CM:I27.0 Primary pulmonary hypertension semapv:UnspecifiedMatching MONDO:0002000 anaerobic meningitis skos:exactMatch DOID:14559 anaerobic meningitis semapv:UnspecifiedMatching MONDO:0002000 anaerobic meningitis skos:exactMatch SCTID:445059005 semapv:UnspecifiedMatching MONDO:0002000 anaerobic meningitis skos:exactMatch UMLS:C0854214 semapv:UnspecifiedMatching MONDO:0002002 postsurgical hypothyroidism skos:exactMatch DOID:1458 postsurgical hypothyroidism semapv:UnspecifiedMatching MONDO:0002002 postsurgical hypothyroidism skos:exactMatch SCTID:27059002 semapv:UnspecifiedMatching MONDO:0002002 postsurgical hypothyroidism skos:exactMatch UMLS:C0154157 semapv:UnspecifiedMatching MONDO:0002003 papilledema skos:exactMatch DOID:146 papilledema semapv:UnspecifiedMatching MONDO:0002003 papilledema skos:exactMatch NCIT:C3307 Papilledema semapv:UnspecifiedMatching MONDO:0002003 papilledema skos:exactMatch SCTID:423341008 semapv:UnspecifiedMatching MONDO:0002003 papilledema skos:exactMatch mesh:D010211 semapv:UnspecifiedMatching MONDO:0002004 atheroembolism of kidney skos:exactMatch DOID:1460 atheroembolism of kidney semapv:UnspecifiedMatching MONDO:0002004 atheroembolism of kidney skos:exactMatch ICD10CM:I75.81 Atheroembolism of kidney semapv:UnspecifiedMatching MONDO:0002006 serous labyrinthitis skos:exactMatch DOID:1467 serous labyrinthitis semapv:UnspecifiedMatching MONDO:0002006 serous labyrinthitis skos:exactMatch SCTID:41674001 semapv:UnspecifiedMatching MONDO:0002006 serous labyrinthitis skos:exactMatch UMLS:C0155504 semapv:UnspecifiedMatching MONDO:0002008 labyrinthitis skos:exactMatch DOID:1468 labyrinthitis semapv:UnspecifiedMatching MONDO:0002008 labyrinthitis skos:exactMatch DOID:3930 otitis interna semapv:UnspecifiedMatching MONDO:0002008 labyrinthitis skos:exactMatch ICD10CM:H83.0 Labyrinthitis semapv:UnspecifiedMatching MONDO:0002008 labyrinthitis skos:exactMatch NCIT:C128369 Labyrinthitis semapv:UnspecifiedMatching MONDO:0002008 labyrinthitis skos:exactMatch SCTID:23919004 semapv:UnspecifiedMatching MONDO:0002008 labyrinthitis skos:exactMatch UMLS:C0022893 semapv:UnspecifiedMatching MONDO:0002008 labyrinthitis skos:exactMatch mesh:D007762 semapv:UnspecifiedMatching MONDO:0002009 major depressive disorder skos:exactMatch DOID:1470 major depressive disorder semapv:UnspecifiedMatching MONDO:0002009 major depressive disorder skos:exactMatch NCIT:C35094 Unipolar Depression semapv:UnspecifiedMatching MONDO:0002009 major depressive disorder skos:exactMatch OMIM:608516 major depressive disorder semapv:UnspecifiedMatching MONDO:0002009 major depressive disorder skos:exactMatch SCTID:370143000 semapv:UnspecifiedMatching MONDO:0002009 major depressive disorder skos:exactMatch mesh:D003865 semapv:UnspecifiedMatching MONDO:0002010 FG syndrome skos:exactMatch DOID:14711 FG syndrome semapv:UnspecifiedMatching MONDO:0002010 FG syndrome skos:exactMatch OMIMPS:305450 semapv:UnspecifiedMatching MONDO:0002010 FG syndrome skos:exactMatch SCTID:49984004 semapv:UnspecifiedMatching MONDO:0002010 FG syndrome skos:exactMatch UMLS:C0220769 semapv:UnspecifiedMatching MONDO:0002012 methylmalonic acidemia skos:exactMatch DOID:14749 methylmalonic acidemia semapv:UnspecifiedMatching MONDO:0002012 methylmalonic acidemia skos:exactMatch ICD10CM:E71.120 Methylmalonic acidemia semapv:UnspecifiedMatching MONDO:0002012 methylmalonic acidemia skos:exactMatch NCIT:C98986 Methylmalonic Acidemia semapv:UnspecifiedMatching MONDO:0002012 methylmalonic acidemia skos:exactMatch SCTID:42393006 semapv:UnspecifiedMatching MONDO:0002012 methylmalonic acidemia skos:exactMatch UMLS:C0268583 semapv:UnspecifiedMatching MONDO:0002012 methylmalonic acidemia skos:exactMatch mesh:C537358 semapv:UnspecifiedMatching MONDO:0002013 lymphangioma skos:exactMatch DOID:1475 lymphangioma semapv:UnspecifiedMatching MONDO:0002013 lymphangioma skos:exactMatch NCIT:C8965 Lymphangioma semapv:UnspecifiedMatching MONDO:0002013 lymphangioma skos:exactMatch Orphanet:2415 Rare lymphatic malformation semapv:UnspecifiedMatching MONDO:0002013 lymphangioma skos:exactMatch SCTID:254836000 semapv:UnspecifiedMatching MONDO:0002013 lymphangioma skos:exactMatch SCTID:400178008 semapv:UnspecifiedMatching MONDO:0002013 lymphangioma skos:exactMatch UMLS:C0024221 semapv:UnspecifiedMatching MONDO:0002013 lymphangioma skos:exactMatch mesh:D008202 semapv:UnspecifiedMatching MONDO:0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type skos:exactMatch DOID:14759 autosomal recessive type IV Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type skos:exactMatch SCTID:70610001 semapv:UnspecifiedMatching MONDO:0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type skos:exactMatch UMLS:C0268340 semapv:UnspecifiedMatching MONDO:0002016 benign familial neonatal epilepsy skos:exactMatch DOID:14777 benign familial neonatal epilepsy semapv:UnspecifiedMatching MONDO:0002016 benign familial neonatal epilepsy skos:exactMatch SCTID:279953009 semapv:UnspecifiedMatching MONDO:0002017 olivopontocerebellar atrophy skos:exactMatch DOID:14784 olivopontocerebellar atrophy semapv:UnspecifiedMatching MONDO:0002017 olivopontocerebellar atrophy skos:exactMatch NCIT:C84947 Olivopontocerebellar Atrophy semapv:UnspecifiedMatching MONDO:0002017 olivopontocerebellar atrophy skos:exactMatch SCTID:67761004 semapv:UnspecifiedMatching MONDO:0002017 olivopontocerebellar atrophy skos:exactMatch UMLS:C0028968 semapv:UnspecifiedMatching MONDO:0002017 olivopontocerebellar atrophy skos:exactMatch mesh:D009849 semapv:UnspecifiedMatching MONDO:0002021 gingival disorder skos:exactMatch DOID:1483 gingival disease semapv:UnspecifiedMatching MONDO:0002021 gingival disorder skos:exactMatch NCIT:C173795 Gingival Disorder semapv:UnspecifiedMatching MONDO:0002021 gingival disorder skos:exactMatch SCTID:18718003 semapv:UnspecifiedMatching MONDO:0002021 gingival disorder skos:exactMatch UMLS:C0017563 semapv:UnspecifiedMatching MONDO:0002021 gingival disorder skos:exactMatch mesh:D005882 semapv:UnspecifiedMatching MONDO:0002022 disorder of orbital region skos:exactMatch ICD10CM:H00-H59 Diseases of the eye and adnexa (H00-H59) semapv:UnspecifiedMatching MONDO:0002022 disorder of orbital region skos:exactMatch SCTID:371409005 semapv:UnspecifiedMatching MONDO:0002025 psychiatric disorder skos:exactMatch DOID:150 disease of mental health semapv:UnspecifiedMatching MONDO:0002025 psychiatric disorder skos:exactMatch NCIT:C2893 Psychiatric Disorder semapv:UnspecifiedMatching MONDO:0002025 psychiatric disorder skos:exactMatch mesh:D001523 semapv:UnspecifiedMatching MONDO:0002026 candidiasis skos:exactMatch DOID:1508 candidiasis semapv:UnspecifiedMatching MONDO:0002026 candidiasis skos:exactMatch ICD10CM:B37 Candidiasis semapv:UnspecifiedMatching MONDO:0002026 candidiasis skos:exactMatch NCIT:C26711 Candidiasis semapv:UnspecifiedMatching MONDO:0002026 candidiasis skos:exactMatch SCTID:78048006 semapv:UnspecifiedMatching MONDO:0002026 candidiasis skos:exactMatch UMLS:C0006840 semapv:UnspecifiedMatching MONDO:0002026 candidiasis skos:exactMatch mesh:D002177 semapv:UnspecifiedMatching MONDO:0002027 avoidant personality disorder skos:exactMatch DOID:1509 avoidant personality disorder semapv:UnspecifiedMatching MONDO:0002027 avoidant personality disorder skos:exactMatch ICD10CM:F60.6 Avoidant personality disorder semapv:UnspecifiedMatching MONDO:0002027 avoidant personality disorder skos:exactMatch NCIT:C92636 Avoidant Personality Disorder semapv:UnspecifiedMatching MONDO:0002027 avoidant personality disorder skos:exactMatch SCTID:231528008 semapv:UnspecifiedMatching MONDO:0002028 personality disorder skos:exactMatch DOID:1510 personality disorder semapv:UnspecifiedMatching MONDO:0002028 personality disorder skos:exactMatch NCIT:C34922 Personality Disorder semapv:UnspecifiedMatching MONDO:0002028 personality disorder skos:exactMatch SCTID:33449004 semapv:UnspecifiedMatching MONDO:0002029 chronic gonorrhea of cervix skos:exactMatch DOID:1512 chronic gonorrhea of cervix semapv:UnspecifiedMatching MONDO:0002029 chronic gonorrhea of cervix skos:exactMatch SCTID:76802005 semapv:UnspecifiedMatching MONDO:0002029 chronic gonorrhea of cervix skos:exactMatch UMLS:C0153206 semapv:UnspecifiedMatching MONDO:0002030 chronic cervicitis skos:exactMatch DOID:1513 chronic cervicitis semapv:UnspecifiedMatching MONDO:0002030 chronic cervicitis skos:exactMatch NCIT:C27057 Chronic Cervicitis semapv:UnspecifiedMatching MONDO:0002030 chronic cervicitis skos:exactMatch SCTID:56728002 semapv:UnspecifiedMatching MONDO:0002030 chronic cervicitis skos:exactMatch UMLS:C0269062 semapv:UnspecifiedMatching MONDO:0002031 cecal disorder skos:exactMatch DOID:1518 cecal disease semapv:UnspecifiedMatching MONDO:0002031 cecal disorder skos:exactMatch SCTID:128525008 semapv:UnspecifiedMatching MONDO:0002031 cecal disorder skos:exactMatch UMLS:C0007527 semapv:UnspecifiedMatching MONDO:0002031 cecal disorder skos:exactMatch mesh:D002429 semapv:UnspecifiedMatching MONDO:0002032 colon carcinoma skos:exactMatch DOID:1520 colon carcinoma semapv:UnspecifiedMatching MONDO:0002032 colon carcinoma skos:exactMatch NCIT:C4910 Colon Carcinoma semapv:UnspecifiedMatching MONDO:0002032 colon carcinoma skos:exactMatch SCTID:269533000 semapv:UnspecifiedMatching MONDO:0002032 colon carcinoma skos:exactMatch UMLS:C0699790 semapv:UnspecifiedMatching MONDO:0002033 cecum cancer skos:exactMatch DOID:1521 cecum cancer semapv:UnspecifiedMatching MONDO:0002033 cecum cancer skos:exactMatch NCIT:C9329 Malignant Cecum Neoplasm semapv:UnspecifiedMatching MONDO:0002033 cecum cancer skos:exactMatch UMLS:C0153437 semapv:UnspecifiedMatching MONDO:0002034 cecum lymphoma skos:exactMatch DOID:1522 cecum lymphoma semapv:UnspecifiedMatching MONDO:0002034 cecum lymphoma skos:exactMatch NCIT:C5515 Cecum Lymphoma semapv:UnspecifiedMatching MONDO:0002034 cecum lymphoma skos:exactMatch UMLS:C1332867 semapv:UnspecifiedMatching MONDO:0002035 colon lymphoma skos:exactMatch DOID:1523 colon lymphoma semapv:UnspecifiedMatching MONDO:0002035 colon lymphoma skos:exactMatch NCIT:C4793 Colon Lymphoma semapv:UnspecifiedMatching MONDO:0002035 colon lymphoma skos:exactMatch SCTID:133751000119102 semapv:UnspecifiedMatching MONDO:0002035 colon lymphoma skos:exactMatch UMLS:C0519037 semapv:UnspecifiedMatching MONDO:0002036 penile disorder skos:exactMatch DOID:1529 penile disease semapv:UnspecifiedMatching MONDO:0002036 penile disorder skos:exactMatch NCIT:C26846 Penile Disorder semapv:UnspecifiedMatching MONDO:0002036 penile disorder skos:exactMatch SCTID:33958003 semapv:UnspecifiedMatching MONDO:0002036 penile disorder skos:exactMatch UMLS:C0030846 semapv:UnspecifiedMatching MONDO:0002036 penile disorder skos:exactMatch mesh:D010409 semapv:UnspecifiedMatching MONDO:0002037 pleural disorder skos:exactMatch DOID:1532 pleural disease semapv:UnspecifiedMatching MONDO:0002037 pleural disorder skos:exactMatch NCIT:C26859 Pleural Disorder semapv:UnspecifiedMatching MONDO:0002037 pleural disorder skos:exactMatch SCTID:88075009 semapv:UnspecifiedMatching MONDO:0002037 pleural disorder skos:exactMatch UMLS:C0032226 semapv:UnspecifiedMatching MONDO:0002037 pleural disorder skos:exactMatch mesh:D010995 semapv:UnspecifiedMatching MONDO:0002038 head and neck carcinoma skos:exactMatch DOID:1542 head and neck carcinoma semapv:UnspecifiedMatching MONDO:0002038 head and neck carcinoma skos:exactMatch NCIT:C35850 Head and Neck Carcinoma semapv:UnspecifiedMatching MONDO:0002038 head and neck carcinoma skos:exactMatch UMLS:C3887461 semapv:UnspecifiedMatching MONDO:0002039 cognitive disorder skos:exactMatch DOID:1561 cognitive disorder semapv:UnspecifiedMatching MONDO:0002039 cognitive disorder skos:exactMatch NCIT:C92196 Cognitive Disorder semapv:UnspecifiedMatching MONDO:0002039 cognitive disorder skos:exactMatch SCTID:443265004 semapv:UnspecifiedMatching MONDO:0002039 cognitive disorder skos:exactMatch mesh:D019965 semapv:UnspecifiedMatching MONDO:0002040 dermatomycosis skos:exactMatch DOID:1563 dermatomycosis semapv:UnspecifiedMatching MONDO:0002040 dermatomycosis skos:exactMatch UMLS:C0011630 semapv:UnspecifiedMatching MONDO:0002040 dermatomycosis skos:exactMatch mesh:D003881 semapv:UnspecifiedMatching MONDO:0002041 fungal infectious disease skos:exactMatch DOID:1564 fungal infectious disease semapv:UnspecifiedMatching MONDO:0002041 fungal infectious disease skos:exactMatch ICD10CM:B35-B49 Mycoses (B35-B49) semapv:UnspecifiedMatching MONDO:0002041 fungal infectious disease skos:exactMatch NCIT:C3245 Fungal Infection semapv:UnspecifiedMatching MONDO:0002041 fungal infectious disease skos:exactMatch SCTID:3218000 semapv:UnspecifiedMatching MONDO:0002041 fungal infectious disease skos:exactMatch mesh:D009181 semapv:UnspecifiedMatching MONDO:0002042 mechanical ectropion skos:exactMatch DOID:1569 mechanical ectropion semapv:UnspecifiedMatching MONDO:0002042 mechanical ectropion skos:exactMatch SCTID:45020000 semapv:UnspecifiedMatching MONDO:0002042 mechanical ectropion skos:exactMatch UMLS:C0155194 semapv:UnspecifiedMatching MONDO:0002043 ectropion skos:exactMatch DOID:1570 ectropion semapv:UnspecifiedMatching MONDO:0002043 ectropion skos:exactMatch SCTID:62909004 semapv:UnspecifiedMatching MONDO:0002043 ectropion skos:exactMatch UMLS:C0013592 semapv:UnspecifiedMatching MONDO:0002043 ectropion skos:exactMatch mesh:D004483 semapv:UnspecifiedMatching MONDO:0002044 spastic ectropion skos:exactMatch DOID:1571 spastic ectropion semapv:UnspecifiedMatching MONDO:0002044 spastic ectropion skos:exactMatch SCTID:80846000 semapv:UnspecifiedMatching MONDO:0002044 spastic ectropion skos:exactMatch UMLS:C0155195 semapv:UnspecifiedMatching MONDO:0002045 communicating hydrocephalus skos:exactMatch DOID:1573 communicating hydrocephalus semapv:UnspecifiedMatching MONDO:0002045 communicating hydrocephalus skos:exactMatch ICD10CM:G91.0 Communicating hydrocephalus semapv:UnspecifiedMatching MONDO:0002045 communicating hydrocephalus skos:exactMatch NCIT:C34501 Communicating Hydrocephalus semapv:UnspecifiedMatching MONDO:0002045 communicating hydrocephalus skos:exactMatch SCTID:271569006 semapv:UnspecifiedMatching MONDO:0002045 communicating hydrocephalus skos:exactMatch UMLS:C0009451 semapv:UnspecifiedMatching MONDO:0002046 alcohol abuse skos:exactMatch DOID:1574 alcohol use disorder semapv:UnspecifiedMatching MONDO:0002046 alcohol abuse skos:exactMatch SCTID:15167005 semapv:UnspecifiedMatching MONDO:0002046 alcohol abuse skos:exactMatch mesh:D000437 semapv:UnspecifiedMatching MONDO:0002047 pulmonary systemic sclerosis skos:exactMatch DOID:1578 pulmonary systemic sclerosis semapv:UnspecifiedMatching MONDO:0002047 pulmonary systemic sclerosis skos:exactMatch SCTID:196133001 semapv:UnspecifiedMatching MONDO:0002047 pulmonary systemic sclerosis skos:exactMatch UMLS:C0339904 semapv:UnspecifiedMatching MONDO:0002048 thrombocytopenia due to immune destruction skos:exactMatch DOID:1587 thrombocytopenia due to platelet alloimmunization semapv:UnspecifiedMatching MONDO:0002048 thrombocytopenia due to immune destruction skos:exactMatch NCIT:C3991 Thrombocytopenia Due to Immune Destruction semapv:UnspecifiedMatching MONDO:0002049 thrombocytopenia skos:exactMatch DOID:1588 thrombocytopenia semapv:UnspecifiedMatching MONDO:0002049 thrombocytopenia skos:exactMatch NCIT:C3408 Thrombocytopenia semapv:UnspecifiedMatching MONDO:0002049 thrombocytopenia skos:exactMatch SCTID:302215000 semapv:UnspecifiedMatching MONDO:0002049 thrombocytopenia skos:exactMatch UMLS:C0040034 semapv:UnspecifiedMatching MONDO:0002049 thrombocytopenia skos:exactMatch mesh:D013921 semapv:UnspecifiedMatching MONDO:0002050 depressive disorder skos:exactMatch DOID:1596 depressive disorder semapv:UnspecifiedMatching MONDO:0002050 depressive disorder skos:exactMatch ICD10CM:F32 Depressive episode semapv:UnspecifiedMatching MONDO:0002050 depressive disorder skos:exactMatch NCIT:C2982 Depression semapv:UnspecifiedMatching MONDO:0002050 depressive disorder skos:exactMatch SCTID:35489007 semapv:UnspecifiedMatching MONDO:0002050 depressive disorder skos:exactMatch UMLS:C0011581 semapv:UnspecifiedMatching MONDO:0002050 depressive disorder skos:exactMatch mesh:D003866 semapv:UnspecifiedMatching MONDO:0002051 integumentary system disorder skos:exactMatch DOID:16 integumentary system disease semapv:UnspecifiedMatching MONDO:0002051 integumentary system disorder skos:exactMatch SCTID:128598002 semapv:UnspecifiedMatching MONDO:0002051 integumentary system disorder skos:exactMatch UMLS:C1290011 semapv:UnspecifiedMatching MONDO:0002052 lymphadenitis skos:exactMatch DOID:1602 lymphadenitis semapv:UnspecifiedMatching MONDO:0002052 lymphadenitis skos:exactMatch NCIT:C26821 Lymphadenitis semapv:UnspecifiedMatching MONDO:0002052 lymphadenitis skos:exactMatch SCTID:41174002 semapv:UnspecifiedMatching MONDO:0002052 lymphadenitis skos:exactMatch UMLS:C0024205 semapv:UnspecifiedMatching MONDO:0002052 lymphadenitis skos:exactMatch mesh:D008199 semapv:UnspecifiedMatching MONDO:0002053 obsolete hypoglycemic coma skos:exactMatch DOID:1607 hypoglycemic coma semapv:UnspecifiedMatching MONDO:0002053 obsolete hypoglycemic coma skos:exactMatch SCTID:267384006 semapv:UnspecifiedMatching MONDO:0002053 obsolete hypoglycemic coma skos:exactMatch UMLS:C0020617 semapv:UnspecifiedMatching MONDO:0002055 benign eccrine breast spiradenoma skos:exactMatch DOID:1616 benign eccrine breast spiradenoma semapv:UnspecifiedMatching MONDO:0002055 benign eccrine breast spiradenoma skos:exactMatch NCIT:C5193 Breast Spiradenoma semapv:UnspecifiedMatching MONDO:0002055 benign eccrine breast spiradenoma skos:exactMatch UMLS:C1332492 semapv:UnspecifiedMatching MONDO:0002056 breast fibroadenoma skos:exactMatch DOID:1618 breast fibroadenoma semapv:UnspecifiedMatching MONDO:0002056 breast fibroadenoma skos:exactMatch NCIT:C3744 Breast Fibroadenoma semapv:UnspecifiedMatching MONDO:0002056 breast fibroadenoma skos:exactMatch SCTID:254847007 semapv:UnspecifiedMatching MONDO:0002056 breast fibroadenoma skos:exactMatch UMLS:C0178421 semapv:UnspecifiedMatching MONDO:0002056 breast fibroadenoma skos:exactMatch mesh:D018226 semapv:UnspecifiedMatching MONDO:0002057 breast leiomyoma skos:exactMatch DOID:1623 breast leiomyoma semapv:UnspecifiedMatching MONDO:0002057 breast leiomyoma skos:exactMatch NCIT:C40399 Breast Leiomyoma semapv:UnspecifiedMatching MONDO:0002057 breast leiomyoma skos:exactMatch UMLS:C1511317 semapv:UnspecifiedMatching MONDO:0002058 breast adenoma skos:exactMatch DOID:1625 breast adenoma semapv:UnspecifiedMatching MONDO:0002058 breast adenoma skos:exactMatch NCIT:C40382 Breast Adenoma semapv:UnspecifiedMatching MONDO:0002058 breast adenoma skos:exactMatch UMLS:C1328385 semapv:UnspecifiedMatching MONDO:0002060 intraductal papilloma skos:exactMatch DOID:1627 intraductal papilloma semapv:UnspecifiedMatching MONDO:0002060 intraductal papilloma skos:exactMatch NCIT:C3785 Intraductal Papilloma semapv:UnspecifiedMatching MONDO:0002060 intraductal papilloma skos:exactMatch UMLS:C0206713 semapv:UnspecifiedMatching MONDO:0002060 intraductal papilloma skos:exactMatch mesh:D018300 semapv:UnspecifiedMatching MONDO:0002061 intraductal papillary breast neoplasm skos:exactMatch DOID:1628 intraductal papillary breast neoplasm semapv:UnspecifiedMatching MONDO:0002061 intraductal papillary breast neoplasm skos:exactMatch NCIT:C36090 Breast Intraductal Papillary Neoplasm semapv:UnspecifiedMatching MONDO:0002061 intraductal papillary breast neoplasm skos:exactMatch UMLS:C1334252 semapv:UnspecifiedMatching MONDO:0002062 breast myofibroblastoma skos:exactMatch DOID:1629 breast myofibroblastoma semapv:UnspecifiedMatching MONDO:0002062 breast myofibroblastoma skos:exactMatch NCIT:C40397 Breast Myofibroblastoma semapv:UnspecifiedMatching MONDO:0002062 breast myofibroblastoma skos:exactMatch UMLS:C1511320 semapv:UnspecifiedMatching MONDO:0002063 obsolete breast papillomatosis skos:exactMatch DOID:1634 obsolete breast papillomatosis semapv:UnspecifiedMatching MONDO:0002063 obsolete breast papillomatosis skos:exactMatch NCIT:C6977 Breast Papillomatosis semapv:UnspecifiedMatching MONDO:0002064 breast angiomatosis skos:exactMatch DOID:1637 breast angiomatosis semapv:UnspecifiedMatching MONDO:0002064 breast angiomatosis skos:exactMatch NCIT:C40381 Breast Angiomatosis semapv:UnspecifiedMatching MONDO:0002064 breast angiomatosis skos:exactMatch UMLS:C1511284 semapv:UnspecifiedMatching MONDO:0002065 benign breast adenomyoepithelioma skos:exactMatch DOID:1641 benign breast adenomyoepithelioma semapv:UnspecifiedMatching MONDO:0002065 benign breast adenomyoepithelioma skos:exactMatch NCIT:C5144 Benign Breast Adenomyoepithelioma semapv:UnspecifiedMatching MONDO:0002065 benign breast adenomyoepithelioma skos:exactMatch UMLS:C1332477 semapv:UnspecifiedMatching MONDO:0002066 breast adenomyoepithelioma skos:exactMatch DOID:1642 breast adenomyoepithelioma semapv:UnspecifiedMatching MONDO:0002066 breast adenomyoepithelioma skos:exactMatch NCIT:C6899 Breast Adenomyoepithelioma semapv:UnspecifiedMatching MONDO:0002066 breast adenomyoepithelioma skos:exactMatch UMLS:C1510795 semapv:UnspecifiedMatching MONDO:0002067 female breast upper-inner quadrant cancer skos:exactMatch DOID:1647 female breast upper-inner quadrant cancer semapv:UnspecifiedMatching MONDO:0002067 female breast upper-inner quadrant cancer skos:exactMatch ICD10CM:C50.2 Malignant neoplasm of upper-inner quadrant of breast semapv:UnspecifiedMatching MONDO:0002067 female breast upper-inner quadrant cancer skos:exactMatch SCTID:188152004 semapv:UnspecifiedMatching MONDO:0002067 female breast upper-inner quadrant cancer skos:exactMatch UMLS:C0153550 semapv:UnspecifiedMatching MONDO:0002068 female breast lower-inner quadrant cancer skos:exactMatch DOID:1649 female breast lower-inner quadrant cancer semapv:UnspecifiedMatching MONDO:0002068 female breast lower-inner quadrant cancer skos:exactMatch ICD10CM:C50.3 Malignant neoplasm of lower-inner quadrant of breast semapv:UnspecifiedMatching MONDO:0002068 female breast lower-inner quadrant cancer skos:exactMatch SCTID:188153009 semapv:UnspecifiedMatching MONDO:0002068 female breast lower-inner quadrant cancer skos:exactMatch UMLS:C0153551 semapv:UnspecifiedMatching MONDO:0002069 female breast axillary tail cancer skos:exactMatch DOID:1650 female breast axillary tail cancer semapv:UnspecifiedMatching MONDO:0002069 female breast axillary tail cancer skos:exactMatch ICD10CM:C50.6 Malignant neoplasm of axillary tail of breast semapv:UnspecifiedMatching MONDO:0002069 female breast axillary tail cancer skos:exactMatch SCTID:188156001 semapv:UnspecifiedMatching MONDO:0002069 female breast axillary tail cancer skos:exactMatch UMLS:C0153554 semapv:UnspecifiedMatching MONDO:0002070 ventricular septal defect skos:exactMatch DOID:1657 ventricular septal defect semapv:UnspecifiedMatching MONDO:0002070 ventricular septal defect skos:exactMatch NCIT:C84506 Ventricular Septal Defect semapv:UnspecifiedMatching MONDO:0002070 ventricular septal defect skos:exactMatch OMIMPS:614429 semapv:UnspecifiedMatching MONDO:0002070 ventricular septal defect skos:exactMatch SCTID:30288003 semapv:UnspecifiedMatching MONDO:0002070 ventricular septal defect skos:exactMatch mesh:D006345 semapv:UnspecifiedMatching MONDO:0002071 supratentorial cancer skos:exactMatch DOID:1659 supratentorial cancer semapv:UnspecifiedMatching MONDO:0002071 supratentorial cancer skos:exactMatch NCIT:C4964 Malignant Supratentorial Neoplasm semapv:UnspecifiedMatching MONDO:0002071 supratentorial cancer skos:exactMatch mesh:D015173 semapv:UnspecifiedMatching MONDO:0002072 melanotic neuroectodermal tumor skos:exactMatch DOID:166 melanotic neuroectodermal tumor semapv:UnspecifiedMatching MONDO:0002072 melanotic neuroectodermal tumor skos:exactMatch NCIT:C3717 Melanotic Neuroectodermal Tumor semapv:UnspecifiedMatching MONDO:0002072 melanotic neuroectodermal tumor skos:exactMatch SCTID:404042005 semapv:UnspecifiedMatching MONDO:0002072 melanotic neuroectodermal tumor skos:exactMatch UMLS:C0206094 semapv:UnspecifiedMatching MONDO:0002072 melanotic neuroectodermal tumor skos:exactMatch mesh:D017600 semapv:UnspecifiedMatching MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch DOID:1660 malignant pineal area germ cell neoplasm semapv:UnspecifiedMatching MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch NCIT:C6767 Malignant Pineal Region Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch SCTID:277508009 semapv:UnspecifiedMatching MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch UMLS:C0349621 semapv:UnspecifiedMatching MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch UMLS:C1334612 semapv:UnspecifiedMatching MONDO:0002074 Behcet syndrome arthropathy skos:exactMatch DOID:1670 Behcet's syndrome arthropathy semapv:UnspecifiedMatching MONDO:0002074 Behcet syndrome arthropathy skos:exactMatch NCIT:C35225 Arthropathy in Behcet's Syndrome semapv:UnspecifiedMatching MONDO:0002074 Behcet syndrome arthropathy skos:exactMatch SCTID:62918002 semapv:UnspecifiedMatching MONDO:0002074 Behcet syndrome arthropathy skos:exactMatch UMLS:C0157770 semapv:UnspecifiedMatching MONDO:0002075 spontaneous tension pneumothorax skos:exactMatch DOID:1672 spontaneous tension pneumothorax semapv:UnspecifiedMatching MONDO:0002075 spontaneous tension pneumothorax skos:exactMatch ICD10CM:J93.0 Spontaneous tension pneumothorax semapv:UnspecifiedMatching MONDO:0002075 spontaneous tension pneumothorax skos:exactMatch SCTID:196102003 semapv:UnspecifiedMatching MONDO:0002075 spontaneous tension pneumothorax skos:exactMatch UMLS:C0155907 semapv:UnspecifiedMatching MONDO:0002076 pneumothorax skos:exactMatch DOID:1673 pneumothorax semapv:UnspecifiedMatching MONDO:0002076 pneumothorax skos:exactMatch NCIT:C38006 Pneumothorax semapv:UnspecifiedMatching MONDO:0002076 pneumothorax skos:exactMatch SCTID:36118008 semapv:UnspecifiedMatching MONDO:0002076 pneumothorax skos:exactMatch mesh:D011030 semapv:UnspecifiedMatching MONDO:0002077 low implantation of placenta skos:exactMatch DOID:1677 low implantation of placenta semapv:UnspecifiedMatching MONDO:0002077 low implantation of placenta skos:exactMatch SCTID:7792000 semapv:UnspecifiedMatching MONDO:0002078 heart septal defect skos:exactMatch DOID:1681 heart septal defect semapv:UnspecifiedMatching MONDO:0002078 heart septal defect skos:exactMatch NCIT:C84482 Congenital Septal Defect semapv:UnspecifiedMatching MONDO:0002078 heart septal defect skos:exactMatch SCTID:253273004 semapv:UnspecifiedMatching MONDO:0002078 heart septal defect skos:exactMatch UMLS:C0018816 semapv:UnspecifiedMatching MONDO:0002078 heart septal defect skos:exactMatch mesh:D006343 semapv:UnspecifiedMatching MONDO:0002081 musculoskeletal system disorder skos:exactMatch DOID:17 musculoskeletal system disease semapv:UnspecifiedMatching MONDO:0002081 musculoskeletal system disorder skos:exactMatch NCIT:C107377 Musculoskeletal Disorder semapv:UnspecifiedMatching MONDO:0002081 musculoskeletal system disorder skos:exactMatch SCTID:928000 semapv:UnspecifiedMatching MONDO:0002081 musculoskeletal system disorder skos:exactMatch UMLS:C0026857 semapv:UnspecifiedMatching MONDO:0002081 musculoskeletal system disorder skos:exactMatch mesh:D009140 semapv:UnspecifiedMatching MONDO:0002082 endocrine gland neoplasm skos:exactMatch NCIT:C3010 Endocrine Neoplasm semapv:UnspecifiedMatching MONDO:0002082 endocrine gland neoplasm skos:exactMatch SCTID:387922007 semapv:UnspecifiedMatching MONDO:0002083 Richter syndrome skos:exactMatch DOID:1703 Richter's syndrome semapv:UnspecifiedMatching MONDO:0002083 Richter syndrome skos:exactMatch NCIT:C35424 Richter Syndrome semapv:UnspecifiedMatching MONDO:0002083 Richter syndrome skos:exactMatch SCTID:277550009 semapv:UnspecifiedMatching MONDO:0002083 Richter syndrome skos:exactMatch UMLS:C0349631 semapv:UnspecifiedMatching MONDO:0002085 benign shuddering attacks skos:exactMatch DOID:1713 benign shuddering attacks semapv:UnspecifiedMatching MONDO:0002085 benign shuddering attacks skos:exactMatch ICD10CM:G25.83 Benign shuddering attacks semapv:UnspecifiedMatching MONDO:0002085 benign shuddering attacks skos:exactMatch SCTID:446995005 semapv:UnspecifiedMatching MONDO:0002085 benign shuddering attacks skos:exactMatch UMLS:C0375200 semapv:UnspecifiedMatching MONDO:0002086 clear cell acanthoma skos:exactMatch DOID:172 clear cell acanthoma semapv:UnspecifiedMatching MONDO:0002086 clear cell acanthoma skos:exactMatch NCIT:C97041 Clear Cell Acanthoma semapv:UnspecifiedMatching MONDO:0002086 clear cell acanthoma skos:exactMatch SCTID:254670002 semapv:UnspecifiedMatching MONDO:0002086 clear cell acanthoma skos:exactMatch UMLS:C0333992 semapv:UnspecifiedMatching MONDO:0002087 peritoneum cancer skos:exactMatch DOID:1725 peritoneum cancer semapv:UnspecifiedMatching MONDO:0002087 peritoneum cancer skos:exactMatch NCIT:C3538 Malignant Peritoneal Neoplasm semapv:UnspecifiedMatching MONDO:0002087 peritoneum cancer skos:exactMatch SCTID:363492001 semapv:UnspecifiedMatching MONDO:0002087 peritoneum cancer skos:exactMatch UMLS:C0153467 semapv:UnspecifiedMatching MONDO:0002088 partial retinal vein occlusion skos:exactMatch DOID:1726 partial of retinal vein occlusion semapv:UnspecifiedMatching MONDO:0002088 partial retinal vein occlusion skos:exactMatch NCIT:C35341 Partial Retinal Vein Occlusion semapv:UnspecifiedMatching MONDO:0002088 partial retinal vein occlusion skos:exactMatch SCTID:65593009 semapv:UnspecifiedMatching MONDO:0002088 partial retinal vein occlusion skos:exactMatch UMLS:C0271080 semapv:UnspecifiedMatching MONDO:0002089 retinal vascular occlusion skos:exactMatch DOID:1729 retinal vascular occlusion semapv:UnspecifiedMatching MONDO:0002089 retinal vascular occlusion skos:exactMatch ICD10CM:H34 Retinal vascular occlusions semapv:UnspecifiedMatching MONDO:0002089 retinal vascular occlusion skos:exactMatch NCIT:C34980 Retinal Vascular Occlusion semapv:UnspecifiedMatching MONDO:0002089 retinal vascular occlusion skos:exactMatch SCTID:73757007 semapv:UnspecifiedMatching MONDO:0002089 retinal vascular occlusion skos:exactMatch UMLS:C0035326 semapv:UnspecifiedMatching MONDO:0002090 eccrine sweat gland neoplasm skos:exactMatch DOID:173 eccrine sweat gland neoplasm semapv:UnspecifiedMatching MONDO:0002090 eccrine sweat gland neoplasm skos:exactMatch NCIT:C6796 Eccrine Neoplasm semapv:UnspecifiedMatching MONDO:0002090 eccrine sweat gland neoplasm skos:exactMatch UMLS:C1333371 semapv:UnspecifiedMatching MONDO:0002092 small intestine leiomyoma skos:exactMatch DOID:1738 small intestine leiomyoma semapv:UnspecifiedMatching MONDO:0002092 small intestine leiomyoma skos:exactMatch NCIT:C7725 Small Intestinal Leiomyoma semapv:UnspecifiedMatching MONDO:0002092 small intestine leiomyoma skos:exactMatch SCTID:424279009 semapv:UnspecifiedMatching MONDO:0002092 small intestine leiomyoma skos:exactMatch UMLS:C0238197 semapv:UnspecifiedMatching MONDO:0002093 acanthoma skos:exactMatch DOID:174 acanthoma semapv:UnspecifiedMatching MONDO:0002093 acanthoma skos:exactMatch NCIT:C7419 Acanthoma semapv:UnspecifiedMatching MONDO:0002093 acanthoma skos:exactMatch UMLS:C0846967 semapv:UnspecifiedMatching MONDO:0002093 acanthoma skos:exactMatch mesh:D049309 semapv:UnspecifiedMatching MONDO:0002095 vascular cancer skos:exactMatch DOID:175 vascular cancer semapv:UnspecifiedMatching MONDO:0002095 vascular cancer skos:exactMatch NCIT:C8538 Malignant Blood Vessel Neoplasm semapv:UnspecifiedMatching MONDO:0002095 vascular cancer skos:exactMatch mesh:D009383 semapv:UnspecifiedMatching MONDO:0002096 malignant conjunctival melanoma skos:exactMatch DOID:1751 malignant conjunctival melanoma semapv:UnspecifiedMatching MONDO:0002096 malignant conjunctival melanoma skos:exactMatch NCIT:C4550 Conjunctival Melanoma semapv:UnspecifiedMatching MONDO:0002096 malignant conjunctival melanoma skos:exactMatch Orphanet:617910 Conjunctival malignant melanoma semapv:UnspecifiedMatching MONDO:0002096 malignant conjunctival melanoma skos:exactMatch SCTID:255004001 semapv:UnspecifiedMatching MONDO:0002096 malignant conjunctival melanoma skos:exactMatch UMLS:C0346360 semapv:UnspecifiedMatching MONDO:0002098 facial nerve disorder skos:exactMatch DOID:1756 facial nerve disease semapv:UnspecifiedMatching MONDO:0002098 facial nerve disorder skos:exactMatch ICD10CM:G51 Facial nerve disorders semapv:UnspecifiedMatching MONDO:0002098 facial nerve disorder skos:exactMatch NCIT:C27594 Facial Nerve Disorder semapv:UnspecifiedMatching MONDO:0002098 facial nerve disorder skos:exactMatch SCTID:422426003 semapv:UnspecifiedMatching MONDO:0002098 facial nerve disorder skos:exactMatch UMLS:C0015464 semapv:UnspecifiedMatching MONDO:0002098 facial nerve disorder skos:exactMatch mesh:D005155 semapv:UnspecifiedMatching MONDO:0002099 Histoplasma capsulatum infectious disease skos:exactMatch DOID:1759 American histoplasmosis semapv:UnspecifiedMatching MONDO:0002099 Histoplasma capsulatum infectious disease skos:exactMatch SCTID:76255006 semapv:UnspecifiedMatching MONDO:0002100 cardiovascular cancer skos:exactMatch DOID:176 cardiovascular cancer semapv:UnspecifiedMatching MONDO:0002100 cardiovascular cancer skos:exactMatch NCIT:C114940 Malignant Cardiovascular Neoplasm semapv:UnspecifiedMatching MONDO:0002100 cardiovascular cancer skos:exactMatch UMLS:C3898472 semapv:UnspecifiedMatching MONDO:0002101 facial nerve neoplasm skos:exactMatch DOID:1760 facial nerve neoplasm semapv:UnspecifiedMatching MONDO:0002101 facial nerve neoplasm skos:exactMatch NCIT:C5827 Facial Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002101 facial nerve neoplasm skos:exactMatch SCTID:126973004 semapv:UnspecifiedMatching MONDO:0002101 facial nerve neoplasm skos:exactMatch UMLS:C1263899 semapv:UnspecifiedMatching MONDO:0002102 cheilitis skos:exactMatch DOID:1762 cheilitis semapv:UnspecifiedMatching MONDO:0002102 cheilitis skos:exactMatch NCIT:C79545 Cheilitis semapv:UnspecifiedMatching MONDO:0002102 cheilitis skos:exactMatch SCTID:7847004 semapv:UnspecifiedMatching MONDO:0002102 cheilitis skos:exactMatch UMLS:C0007971 semapv:UnspecifiedMatching MONDO:0002102 cheilitis skos:exactMatch mesh:D002613 semapv:UnspecifiedMatching MONDO:0002103 factitious disorder skos:exactMatch DOID:1766 factitious disorder semapv:UnspecifiedMatching MONDO:0002103 factitious disorder skos:exactMatch NCIT:C92198 Factitious Disorder semapv:UnspecifiedMatching MONDO:0002103 factitious disorder skos:exactMatch SCTID:50705009 semapv:UnspecifiedMatching MONDO:0002103 factitious disorder skos:exactMatch mesh:D009110 semapv:UnspecifiedMatching MONDO:0002104 conversion disorder skos:exactMatch DOID:1768 conversion disorder semapv:UnspecifiedMatching MONDO:0002104 conversion disorder skos:exactMatch mesh:D003291 semapv:UnspecifiedMatching MONDO:0002105 toxic megacolon skos:exactMatch DOID:1770 toxic megacolon semapv:UnspecifiedMatching MONDO:0002105 toxic megacolon skos:exactMatch ICD10CM:K59.31 Toxic megacolon semapv:UnspecifiedMatching MONDO:0002105 toxic megacolon skos:exactMatch SCTID:28536002 semapv:UnspecifiedMatching MONDO:0002105 toxic megacolon skos:exactMatch UMLS:C0025162 semapv:UnspecifiedMatching MONDO:0002105 toxic megacolon skos:exactMatch mesh:D008532 semapv:UnspecifiedMatching MONDO:0002106 labyrinthine unilateral reactive loss skos:exactMatch DOID:1776 labyrinthine unilateral reactive loss semapv:UnspecifiedMatching MONDO:0002106 labyrinthine unilateral reactive loss skos:exactMatch UMLS:C0155519 semapv:UnspecifiedMatching MONDO:0002107 unilateral hyperactive labyrinth skos:exactMatch DOID:1777 unilateral hyperactive labyrinth semapv:UnspecifiedMatching MONDO:0002107 unilateral hyperactive labyrinth skos:exactMatch UMLS:C0155515 semapv:UnspecifiedMatching MONDO:0002108 thyroid cancer skos:exactMatch DOID:1781 thyroid cancer semapv:UnspecifiedMatching MONDO:0002108 thyroid cancer skos:exactMatch NCIT:C7510 Malignant Thyroid Gland Neoplasm semapv:UnspecifiedMatching MONDO:0002108 thyroid cancer skos:exactMatch SCTID:363478007 semapv:UnspecifiedMatching MONDO:0002108 thyroid cancer skos:exactMatch UMLS:C0007115 semapv:UnspecifiedMatching MONDO:0002109 pituitary cancer skos:exactMatch DOID:1785 pituitary cancer semapv:UnspecifiedMatching MONDO:0002109 pituitary cancer skos:exactMatch NCIT:C4769 Malignant Pituitary Gland Neoplasm semapv:UnspecifiedMatching MONDO:0002109 pituitary cancer skos:exactMatch SCTID:363482009 semapv:UnspecifiedMatching MONDO:0002109 pituitary cancer skos:exactMatch UMLS:C0496842 semapv:UnspecifiedMatching MONDO:0002110 adrenal rest tumor skos:exactMatch DOID:1786 adrenal rest tumor semapv:UnspecifiedMatching MONDO:0002110 adrenal rest tumor skos:exactMatch NCIT:C2860 Adrenal Rest Tumor semapv:UnspecifiedMatching MONDO:0002110 adrenal rest tumor skos:exactMatch UMLS:C0001630 semapv:UnspecifiedMatching MONDO:0002110 adrenal rest tumor skos:exactMatch mesh:D000314 semapv:UnspecifiedMatching MONDO:0002112 benign peritoneal mesothelioma skos:exactMatch DOID:1789 benign peritoneal mesothelioma semapv:UnspecifiedMatching MONDO:0002112 benign peritoneal mesothelioma skos:exactMatch NCIT:C7354 Peritoneal Adenomatoid Tumor semapv:UnspecifiedMatching MONDO:0002113 peritoneal carcinoma skos:exactMatch DOID:1791 peritoneal carcinoma semapv:UnspecifiedMatching MONDO:0002113 peritoneal carcinoma skos:exactMatch SCTID:447781009 semapv:UnspecifiedMatching MONDO:0002114 pancreas lymphoma skos:exactMatch DOID:1792 pancreas lymphoma semapv:UnspecifiedMatching MONDO:0002114 pancreas lymphoma skos:exactMatch NCIT:C5714 Pancreatic Lymphoma semapv:UnspecifiedMatching MONDO:0002114 pancreas lymphoma skos:exactMatch UMLS:C1335307 semapv:UnspecifiedMatching MONDO:0002116 malignant exocrine pancreas neoplasm skos:exactMatch DOID:1795 malignant exocrine pancreas neoplasm semapv:UnspecifiedMatching MONDO:0002116 malignant exocrine pancreas neoplasm skos:exactMatch NCIT:C7430 Malignant Exocrine Pancreas Neoplasm semapv:UnspecifiedMatching MONDO:0002116 malignant exocrine pancreas neoplasm skos:exactMatch SCTID:255088001 semapv:UnspecifiedMatching MONDO:0002116 malignant exocrine pancreas neoplasm skos:exactMatch UMLS:C0346648 semapv:UnspecifiedMatching MONDO:0002117 pancreas sarcoma skos:exactMatch DOID:1796 pancreas sarcoma semapv:UnspecifiedMatching MONDO:0002117 pancreas sarcoma skos:exactMatch NCIT:C5715 Pancreatic Sarcoma semapv:UnspecifiedMatching MONDO:0002117 pancreas sarcoma skos:exactMatch UMLS:C1096346 semapv:UnspecifiedMatching MONDO:0002118 urinary system disorder skos:exactMatch DOID:18 urinary system disease semapv:UnspecifiedMatching MONDO:0002118 urinary system disorder skos:exactMatch NCIT:C3430 Urinary System Disorder semapv:UnspecifiedMatching MONDO:0002118 urinary system disorder skos:exactMatch SCTID:128606002 semapv:UnspecifiedMatching MONDO:0002118 urinary system disorder skos:exactMatch UMLS:C0042075 semapv:UnspecifiedMatching MONDO:0002118 urinary system disorder skos:exactMatch mesh:D014570 semapv:UnspecifiedMatching MONDO:0002119 ossifying fibroma skos:exactMatch DOID:180 ossifying fibroma semapv:UnspecifiedMatching MONDO:0002119 ossifying fibroma skos:exactMatch NCIT:C173820 Ossifying Fibroma semapv:UnspecifiedMatching MONDO:0002119 ossifying fibroma skos:exactMatch NCIT:C8422 Cemento-Ossifying Fibroma semapv:UnspecifiedMatching MONDO:0002119 ossifying fibroma skos:exactMatch UMLS:C0206640 semapv:UnspecifiedMatching MONDO:0002119 ossifying fibroma skos:exactMatch mesh:D018214 semapv:UnspecifiedMatching MONDO:0002120 neuroendocrine carcinoma skos:exactMatch DOID:1800 neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0002120 neuroendocrine carcinoma skos:exactMatch NCIT:C3773 Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0002120 neuroendocrine carcinoma skos:exactMatch SCTID:253000007 semapv:UnspecifiedMatching MONDO:0002120 neuroendocrine carcinoma skos:exactMatch UMLS:C0206695 semapv:UnspecifiedMatching MONDO:0002120 neuroendocrine carcinoma skos:exactMatch mesh:D018278 semapv:UnspecifiedMatching MONDO:0002121 mononeuritis simplex skos:exactMatch DOID:1802 mononeuritis semapv:UnspecifiedMatching MONDO:0002121 mononeuritis simplex skos:exactMatch SCTID:32595002 semapv:UnspecifiedMatching MONDO:0002121 mononeuritis simplex skos:exactMatch UMLS:C0235880 semapv:UnspecifiedMatching MONDO:0002122 neuritis skos:exactMatch DOID:1803 neuritis semapv:UnspecifiedMatching MONDO:0002122 neuritis skos:exactMatch NCIT:C116381 Neuritis semapv:UnspecifiedMatching MONDO:0002122 neuritis skos:exactMatch SCTID:128192007 semapv:UnspecifiedMatching MONDO:0002122 neuritis skos:exactMatch UMLS:C0027813 semapv:UnspecifiedMatching MONDO:0002122 neuritis skos:exactMatch mesh:D009443 semapv:UnspecifiedMatching MONDO:0002123 calcinosis skos:exactMatch DOID:182 calcinosis semapv:UnspecifiedMatching MONDO:0002123 calcinosis skos:exactMatch NCIT:C3672 Calcification semapv:UnspecifiedMatching MONDO:0002123 calcinosis skos:exactMatch SCTID:6595006 semapv:UnspecifiedMatching MONDO:0002123 calcinosis skos:exactMatch mesh:D002114 semapv:UnspecifiedMatching MONDO:0002124 secondary lacrimal atrophy skos:exactMatch DOID:1822 secondary lacrimal atrophy semapv:UnspecifiedMatching MONDO:0002124 secondary lacrimal atrophy skos:exactMatch SCTID:75068001 semapv:UnspecifiedMatching MONDO:0002125 status epilepticus skos:exactMatch DOID:1824 status epilepticus semapv:UnspecifiedMatching MONDO:0002125 status epilepticus skos:exactMatch NCIT:C85079 Status Epilepticus semapv:UnspecifiedMatching MONDO:0002125 status epilepticus skos:exactMatch SCTID:230456007 semapv:UnspecifiedMatching MONDO:0002125 status epilepticus skos:exactMatch UMLS:C0038220 semapv:UnspecifiedMatching MONDO:0002125 status epilepticus skos:exactMatch mesh:D013226 semapv:UnspecifiedMatching MONDO:0002127 urethral stricture skos:exactMatch DOID:1829 urethral stricture semapv:UnspecifiedMatching MONDO:0002127 urethral stricture skos:exactMatch NCIT:C79821 Urethral Stricture semapv:UnspecifiedMatching MONDO:0002127 urethral stricture skos:exactMatch SCTID:76618002 semapv:UnspecifiedMatching MONDO:0002127 urethral stricture skos:exactMatch UMLS:C4551691 semapv:UnspecifiedMatching MONDO:0002127 urethral stricture skos:exactMatch mesh:D014525 semapv:UnspecifiedMatching MONDO:0002128 mononeuritis multiplex skos:exactMatch DOID:1835 mononeuritis multiplex semapv:UnspecifiedMatching MONDO:0002128 mononeuritis multiplex skos:exactMatch ICD10CM:G58.7 Mononeuritis multiplex semapv:UnspecifiedMatching MONDO:0002128 mononeuritis multiplex skos:exactMatch NCIT:C70938 Mononeuritis Multiplex semapv:UnspecifiedMatching MONDO:0002128 mononeuritis multiplex skos:exactMatch SCTID:30292005 semapv:UnspecifiedMatching MONDO:0002128 mononeuritis multiplex skos:exactMatch UMLS:C0151295 semapv:UnspecifiedMatching MONDO:0002129 bone cancer skos:exactMatch DOID:184 bone cancer semapv:UnspecifiedMatching MONDO:0002129 bone cancer skos:exactMatch NCIT:C4016 Malignant Bone Neoplasm semapv:UnspecifiedMatching MONDO:0002129 bone cancer skos:exactMatch SCTID:428281000 semapv:UnspecifiedMatching MONDO:0002129 bone cancer skos:exactMatch mesh:D001859 semapv:UnspecifiedMatching MONDO:0002130 upper limb mononeuronitis skos:exactMatch DOID:1844 mononeuritis of upper limb semapv:UnspecifiedMatching MONDO:0002131 jaw cancer skos:exactMatch DOID:1862 jaw cancer semapv:UnspecifiedMatching MONDO:0002131 jaw cancer skos:exactMatch mesh:D007573 semapv:UnspecifiedMatching MONDO:0002132 skull cancer skos:exactMatch DOID:1863 skull cancer semapv:UnspecifiedMatching MONDO:0002133 chronic rheumatic pericarditis skos:exactMatch DOID:1869 chronic rheumatic pericarditis semapv:UnspecifiedMatching MONDO:0002133 chronic rheumatic pericarditis skos:exactMatch ICD10CM:I09.2 Chronic rheumatic pericarditis semapv:UnspecifiedMatching MONDO:0002133 chronic rheumatic pericarditis skos:exactMatch SCTID:78069008 semapv:UnspecifiedMatching MONDO:0002133 chronic rheumatic pericarditis skos:exactMatch UMLS:C0155561 semapv:UnspecifiedMatching MONDO:0002134 physiological sexual disorder skos:exactMatch DOID:1876 sexual dysfunction semapv:UnspecifiedMatching MONDO:0002134 physiological sexual disorder skos:exactMatch UMLS:C0237873 semapv:UnspecifiedMatching MONDO:0002134 physiological sexual disorder skos:exactMatch mesh:D012735 semapv:UnspecifiedMatching MONDO:0002135 optic nerve disorder skos:exactMatch DOID:1891 optic nerve disease semapv:UnspecifiedMatching MONDO:0002135 optic nerve disorder skos:exactMatch NCIT:C79698 Optic Nerve Disorder semapv:UnspecifiedMatching MONDO:0002135 optic nerve disorder skos:exactMatch SCTID:77157004 semapv:UnspecifiedMatching MONDO:0002135 optic nerve disorder skos:exactMatch UMLS:C3887709 semapv:UnspecifiedMatching MONDO:0002135 optic nerve disorder skos:exactMatch mesh:D009901 semapv:UnspecifiedMatching MONDO:0002136 eczematous dermatitis of eyelid skos:exactMatch DOID:1893 eczematous dermatitis of eyelid semapv:UnspecifiedMatching MONDO:0002136 eczematous dermatitis of eyelid skos:exactMatch SCTID:36259009 semapv:UnspecifiedMatching MONDO:0002136 eczematous dermatitis of eyelid skos:exactMatch UMLS:C0155177 semapv:UnspecifiedMatching MONDO:0002137 noninfectious dermatoses of eyelid skos:exactMatch DOID:1894 noninfectious dermatoses of eyelid semapv:UnspecifiedMatching MONDO:0002137 noninfectious dermatoses of eyelid skos:exactMatch SCTID:111524003 semapv:UnspecifiedMatching MONDO:0002137 noninfectious dermatoses of eyelid skos:exactMatch UMLS:C0155176 semapv:UnspecifiedMatching MONDO:0002138 allergic contact dermatitis of eyelid skos:exactMatch DOID:1895 allergic contact dermatitis of eyelid semapv:UnspecifiedMatching MONDO:0002138 allergic contact dermatitis of eyelid skos:exactMatch SCTID:402249007 semapv:UnspecifiedMatching MONDO:0002138 allergic contact dermatitis of eyelid skos:exactMatch UMLS:C0155178 semapv:UnspecifiedMatching MONDO:0002139 sigmoid disease skos:exactMatch DOID:1897 sigmoid disease semapv:UnspecifiedMatching MONDO:0002139 sigmoid disease skos:exactMatch UMLS:C0037072 semapv:UnspecifiedMatching MONDO:0002139 sigmoid disease skos:exactMatch mesh:D012810 semapv:UnspecifiedMatching MONDO:0002140 vagina sarcoma skos:exactMatch DOID:1901 vagina sarcoma semapv:UnspecifiedMatching MONDO:0002140 vagina sarcoma skos:exactMatch NCIT:C7737 Vaginal Sarcoma semapv:UnspecifiedMatching MONDO:0002140 vagina sarcoma skos:exactMatch UMLS:C0238519 semapv:UnspecifiedMatching MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma skos:exactMatch DOID:1906 malignant skin fibrous histiocytoma semapv:UnspecifiedMatching MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma skos:exactMatch NCIT:C5576 Skin Undifferentiated Pleomorphic Sarcoma semapv:UnspecifiedMatching MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma skos:exactMatch SCTID:404014008 semapv:UnspecifiedMatching MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma skos:exactMatch UMLS:C1275254 semapv:UnspecifiedMatching MONDO:0002142 undifferentiated pleomorphic sarcoma skos:exactMatch DOID:1907 malignant fibrous histiocytoma semapv:UnspecifiedMatching MONDO:0002142 undifferentiated pleomorphic sarcoma skos:exactMatch NCIT:C114541 Adult Undifferentiated Pleomorphic Sarcoma semapv:UnspecifiedMatching MONDO:0002142 undifferentiated pleomorphic sarcoma skos:exactMatch NCIT:C4247 Undifferentiated Pleomorphic Sarcoma semapv:UnspecifiedMatching MONDO:0002142 undifferentiated pleomorphic sarcoma skos:exactMatch Orphanet:2023 Undifferentiated pleomorphic sarcoma semapv:UnspecifiedMatching MONDO:0002142 undifferentiated pleomorphic sarcoma skos:exactMatch SCTID:443439001 semapv:UnspecifiedMatching MONDO:0002142 undifferentiated pleomorphic sarcoma skos:exactMatch mesh:D051677 semapv:UnspecifiedMatching MONDO:0002143 vaginal yolk sac tumor skos:exactMatch DOID:1910 vaginal yolk sac tumor semapv:UnspecifiedMatching MONDO:0002143 vaginal yolk sac tumor skos:exactMatch NCIT:C6379 Vaginal Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0002143 vaginal yolk sac tumor skos:exactMatch UMLS:C1336945 semapv:UnspecifiedMatching MONDO:0002144 obsolete hyperuricemia skos:exactMatch DOID:1920 hyperuricemia semapv:UnspecifiedMatching MONDO:0002144 obsolete hyperuricemia skos:exactMatch SCTID:35885006 semapv:UnspecifiedMatching MONDO:0002144 obsolete hyperuricemia skos:exactMatch UMLS:C0740394 semapv:UnspecifiedMatching MONDO:0002144 obsolete hyperuricemia skos:exactMatch mesh:D033461 semapv:UnspecifiedMatching MONDO:0002145 disorder of sexual differentiation skos:exactMatch DOID:1923 disorder of sexual development semapv:UnspecifiedMatching MONDO:0002145 disorder of sexual differentiation skos:exactMatch NCIT:C103186 Sexual Differentiation Disorder semapv:UnspecifiedMatching MONDO:0002145 disorder of sexual differentiation skos:exactMatch Orphanet:90771 Difference of sex development semapv:UnspecifiedMatching MONDO:0002145 disorder of sexual differentiation skos:exactMatch SCTID:39179006 semapv:UnspecifiedMatching MONDO:0002145 disorder of sexual differentiation skos:exactMatch UMLS:C2930619 semapv:UnspecifiedMatching MONDO:0002145 disorder of sexual differentiation skos:exactMatch mesh:D012734 semapv:UnspecifiedMatching MONDO:0002146 hypogonadism skos:exactMatch DOID:1924 hypogonadism semapv:UnspecifiedMatching MONDO:0002146 hypogonadism skos:exactMatch NCIT:C9227 Hypogonadism semapv:UnspecifiedMatching MONDO:0002146 hypogonadism skos:exactMatch SCTID:48130008 semapv:UnspecifiedMatching MONDO:0002146 hypogonadism skos:exactMatch UMLS:C0020619 semapv:UnspecifiedMatching MONDO:0002146 hypogonadism skos:exactMatch mesh:D007006 semapv:UnspecifiedMatching MONDO:0002149 reproductive system cancer skos:exactMatch DOID:193 reproductive organ cancer semapv:UnspecifiedMatching MONDO:0002149 reproductive system cancer skos:exactMatch NCIT:C36076 Malignant Reproductive System Neoplasm semapv:UnspecifiedMatching MONDO:0002149 reproductive system cancer skos:exactMatch UMLS:C1334618 semapv:UnspecifiedMatching MONDO:0002150 hypothalamic disorder skos:exactMatch DOID:1931 hypothalamic disease semapv:UnspecifiedMatching MONDO:0002150 hypothalamic disorder skos:exactMatch SCTID:399100005 semapv:UnspecifiedMatching MONDO:0002150 hypothalamic disorder skos:exactMatch UMLS:C0020655 semapv:UnspecifiedMatching MONDO:0002150 hypothalamic disorder skos:exactMatch mesh:D007027 semapv:UnspecifiedMatching MONDO:0002152 intermittent squint skos:exactMatch DOID:1942 intermittent squint semapv:UnspecifiedMatching MONDO:0002152 intermittent squint skos:exactMatch SCTID:74025007 semapv:UnspecifiedMatching MONDO:0002152 intermittent squint skos:exactMatch UMLS:C0152210 semapv:UnspecifiedMatching MONDO:0002153 telogen effluvium skos:exactMatch DOID:1943 telogen effluvium semapv:UnspecifiedMatching MONDO:0002153 telogen effluvium skos:exactMatch ICD10CM:L65.0 Telogen effluvium semapv:UnspecifiedMatching MONDO:0002153 telogen effluvium skos:exactMatch NCIT:C112200 Telogen Effluvium semapv:UnspecifiedMatching MONDO:0002153 telogen effluvium skos:exactMatch SCTID:39479004 semapv:UnspecifiedMatching MONDO:0002153 telogen effluvium skos:exactMatch UMLS:C0263518 semapv:UnspecifiedMatching MONDO:0002154 trichomoniasis skos:exactMatch DOID:1947 trichomoniasis semapv:UnspecifiedMatching MONDO:0002154 trichomoniasis skos:exactMatch ICD10CM:A59 Trichomoniasis semapv:UnspecifiedMatching MONDO:0002154 trichomoniasis skos:exactMatch NCIT:C35720 Trichomonas Infection semapv:UnspecifiedMatching MONDO:0002154 trichomoniasis skos:exactMatch SCTID:56335008 semapv:UnspecifiedMatching MONDO:0002154 trichomoniasis skos:exactMatch UMLS:C0040921 semapv:UnspecifiedMatching MONDO:0002154 trichomoniasis skos:exactMatch mesh:D014245 semapv:UnspecifiedMatching MONDO:0002155 cholecystitis skos:exactMatch DOID:1949 cholecystitis semapv:UnspecifiedMatching MONDO:0002155 cholecystitis skos:exactMatch NCIT:C34465 Cholecystitis semapv:UnspecifiedMatching MONDO:0002155 cholecystitis skos:exactMatch SCTID:20824003 semapv:UnspecifiedMatching MONDO:0002155 cholecystitis skos:exactMatch mesh:D002764 semapv:UnspecifiedMatching MONDO:0002156 fallopian tube disorder skos:exactMatch DOID:1962 fallopian tube disease semapv:UnspecifiedMatching MONDO:0002156 fallopian tube disorder skos:exactMatch NCIT:C26771 Fallopian Tube Disorder semapv:UnspecifiedMatching MONDO:0002156 fallopian tube disorder skos:exactMatch SCTID:128134005 semapv:UnspecifiedMatching MONDO:0002156 fallopian tube disorder skos:exactMatch UMLS:C0015556 semapv:UnspecifiedMatching MONDO:0002156 fallopian tube disorder skos:exactMatch mesh:D005184 semapv:UnspecifiedMatching MONDO:0002158 fallopian tube cancer skos:exactMatch DOID:1964 fallopian tube cancer semapv:UnspecifiedMatching MONDO:0002158 fallopian tube cancer skos:exactMatch NCIT:C7480 Malignant Fallopian Tube Neoplasm semapv:UnspecifiedMatching MONDO:0002158 fallopian tube cancer skos:exactMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:UnspecifiedMatching MONDO:0002158 fallopian tube cancer skos:exactMatch SCTID:363444001 semapv:UnspecifiedMatching MONDO:0002159 fallopian tube leiomyosarcoma skos:exactMatch DOID:1965 fallopian tube leiomyosarcoma semapv:UnspecifiedMatching MONDO:0002159 fallopian tube leiomyosarcoma skos:exactMatch NCIT:C40128 Fallopian Tube Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0002159 fallopian tube leiomyosarcoma skos:exactMatch UMLS:C1517116 semapv:UnspecifiedMatching MONDO:0002162 fallopian tube adenosarcoma skos:exactMatch DOID:1973 fallopian tube adenosarcoma semapv:UnspecifiedMatching MONDO:0002162 fallopian tube adenosarcoma skos:exactMatch NCIT:C40125 Fallopian Tube Adenosarcoma semapv:UnspecifiedMatching MONDO:0002162 fallopian tube adenosarcoma skos:exactMatch UMLS:C1517121 semapv:UnspecifiedMatching MONDO:0002163 thymus lipoma skos:exactMatch DOID:1975 thymus lipoma semapv:UnspecifiedMatching MONDO:0002163 thymus lipoma skos:exactMatch NCIT:C6452 Thymolipoma semapv:UnspecifiedMatching MONDO:0002163 thymus lipoma skos:exactMatch UMLS:C1336744 semapv:UnspecifiedMatching MONDO:0002164 focal chorioretinitis skos:exactMatch DOID:1979 focal chorioretinitis semapv:UnspecifiedMatching MONDO:0002164 focal chorioretinitis skos:exactMatch SCTID:15847003 semapv:UnspecifiedMatching MONDO:0002164 focal chorioretinitis skos:exactMatch UMLS:C0154870 semapv:UnspecifiedMatching MONDO:0002165 rectal neoplasm skos:exactMatch DOID:1984 rectal benign neoplasm semapv:UnspecifiedMatching MONDO:0002165 rectal neoplasm skos:exactMatch NCIT:C3350 Rectal Neoplasm semapv:UnspecifiedMatching MONDO:0002165 rectal neoplasm skos:exactMatch SCTID:126847008 semapv:UnspecifiedMatching MONDO:0002165 rectal neoplasm skos:exactMatch UMLS:C0034885 semapv:UnspecifiedMatching MONDO:0002165 rectal neoplasm skos:exactMatch mesh:D012004 semapv:UnspecifiedMatching MONDO:0002166 rectum lymphoma skos:exactMatch DOID:1988 rectum lymphoma semapv:UnspecifiedMatching MONDO:0002166 rectum lymphoma skos:exactMatch NCIT:C5553 Rectal Lymphoma semapv:UnspecifiedMatching MONDO:0002166 rectum lymphoma skos:exactMatch UMLS:C1335685 semapv:UnspecifiedMatching MONDO:0002167 rectum malignant melanoma skos:exactMatch DOID:1992 rectum malignant melanoma semapv:UnspecifiedMatching MONDO:0002167 rectum malignant melanoma skos:exactMatch NCIT:C4640 Rectal Melanoma semapv:UnspecifiedMatching MONDO:0002167 rectum malignant melanoma skos:exactMatch SCTID:276822007 semapv:UnspecifiedMatching MONDO:0002167 rectum malignant melanoma skos:exactMatch UMLS:C0349539 semapv:UnspecifiedMatching MONDO:0002168 rectum sarcoma skos:exactMatch DOID:1995 rectum sarcoma semapv:UnspecifiedMatching MONDO:0002168 rectum sarcoma skos:exactMatch NCIT:C5548 Rectal Sarcoma semapv:UnspecifiedMatching MONDO:0002168 rectum sarcoma skos:exactMatch UMLS:C1335688 semapv:UnspecifiedMatching MONDO:0002169 rectum adenocarcinoma skos:exactMatch DOID:1996 rectum adenocarcinoma semapv:UnspecifiedMatching MONDO:0002169 rectum adenocarcinoma skos:exactMatch NCIT:C9383 Rectal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002169 rectum adenocarcinoma skos:exactMatch SCTID:254582000 semapv:UnspecifiedMatching MONDO:0002169 rectum adenocarcinoma skos:exactMatch UMLS:C0149978 semapv:UnspecifiedMatching MONDO:0002170 chronic eustachian salpingitis skos:exactMatch DOID:1999 chronic eustachian salpingitis semapv:UnspecifiedMatching MONDO:0002170 chronic eustachian salpingitis skos:exactMatch SCTID:194269002 semapv:UnspecifiedMatching MONDO:0002170 chronic eustachian salpingitis skos:exactMatch UMLS:C0155430 semapv:UnspecifiedMatching MONDO:0002171 giant cell tumor skos:exactMatch DOID:200 benign giant cell tumor semapv:UnspecifiedMatching MONDO:0002171 giant cell tumor skos:exactMatch NCIT:C3055 Giant Cell Tumor semapv:UnspecifiedMatching MONDO:0002171 giant cell tumor skos:exactMatch SCTID:443790001 semapv:UnspecifiedMatching MONDO:0002171 giant cell tumor skos:exactMatch UMLS:C0017525 semapv:UnspecifiedMatching MONDO:0002171 giant cell tumor skos:exactMatch mesh:D005870 semapv:UnspecifiedMatching MONDO:0002172 otosalpingitis skos:exactMatch DOID:2000 otosalpingitis semapv:UnspecifiedMatching MONDO:0002172 otosalpingitis skos:exactMatch ICD10CM:H68.0 Eustachian salpingitis semapv:UnspecifiedMatching MONDO:0002172 otosalpingitis skos:exactMatch SCTID:270491006 semapv:UnspecifiedMatching MONDO:0002172 otosalpingitis skos:exactMatch UMLS:C0155428 semapv:UnspecifiedMatching MONDO:0002173 neuroma skos:exactMatch DOID:2001 neuroma semapv:UnspecifiedMatching MONDO:0002173 neuroma skos:exactMatch NCIT:C3275 Neuroma semapv:UnspecifiedMatching MONDO:0002173 neuroma skos:exactMatch SCTID:443892003 semapv:UnspecifiedMatching MONDO:0002173 neuroma skos:exactMatch UMLS:C0027858 semapv:UnspecifiedMatching MONDO:0002173 neuroma skos:exactMatch mesh:D009463 semapv:UnspecifiedMatching MONDO:0002174 preretinal fibrosis skos:exactMatch DOID:2006 preretinal fibrosis semapv:UnspecifiedMatching MONDO:0002174 preretinal fibrosis skos:exactMatch SCTID:367649002 semapv:UnspecifiedMatching MONDO:0002174 preretinal fibrosis skos:exactMatch mesh:D019773 semapv:UnspecifiedMatching MONDO:0002175 degeneration of macula and posterior pole skos:exactMatch DOID:2007 degeneration of macula and posterior pole semapv:UnspecifiedMatching MONDO:0002175 degeneration of macula and posterior pole skos:exactMatch ICD10CM:H35.3 Degeneration of macula and posterior pole semapv:UnspecifiedMatching MONDO:0002175 degeneration of macula and posterior pole skos:exactMatch SCTID:267611002 semapv:UnspecifiedMatching MONDO:0002175 degeneration of macula and posterior pole skos:exactMatch UMLS:C0339436 semapv:UnspecifiedMatching MONDO:0002176 obsolete connective tissue cancer skos:exactMatch DOID:201 connective tissue cancer semapv:UnspecifiedMatching MONDO:0002177 hyperinsulinism skos:exactMatch DOID:2018 hyperinsulinism semapv:UnspecifiedMatching MONDO:0002177 hyperinsulinism skos:exactMatch SCTID:83469008 semapv:UnspecifiedMatching MONDO:0002177 hyperinsulinism skos:exactMatch UMLS:C0020459 semapv:UnspecifiedMatching MONDO:0002177 hyperinsulinism skos:exactMatch mesh:D006946 semapv:UnspecifiedMatching MONDO:0002178 placenta cancer skos:exactMatch DOID:2021 placenta cancer semapv:UnspecifiedMatching MONDO:0002178 placenta cancer skos:exactMatch NCIT:C3555 Malignant Placental Neoplasm semapv:UnspecifiedMatching MONDO:0002178 placenta cancer skos:exactMatch SCTID:126920004 semapv:UnspecifiedMatching MONDO:0002178 placenta cancer skos:exactMatch UMLS:C0153572 semapv:UnspecifiedMatching MONDO:0002181 exostosis skos:exactMatch DOID:203 exostosis semapv:UnspecifiedMatching MONDO:0002181 exostosis skos:exactMatch NCIT:C3029 Exostosis semapv:UnspecifiedMatching MONDO:0002181 exostosis skos:exactMatch SCTID:235231000119100 semapv:UnspecifiedMatching MONDO:0002181 exostosis skos:exactMatch SCTID:416189003 semapv:UnspecifiedMatching MONDO:0002181 exostosis skos:exactMatch UMLS:C1442903 semapv:UnspecifiedMatching MONDO:0002182 communication disorder skos:exactMatch DOID:2033 communication disorder semapv:UnspecifiedMatching MONDO:0002182 communication disorder skos:exactMatch NCIT:C2958 Communication Disorder semapv:UnspecifiedMatching MONDO:0002182 communication disorder skos:exactMatch SCTID:278919001 semapv:UnspecifiedMatching MONDO:0002182 communication disorder skos:exactMatch mesh:D003147 semapv:UnspecifiedMatching MONDO:0002183 enthesopathy skos:exactMatch DOID:204 enthesopathy semapv:UnspecifiedMatching MONDO:0002183 enthesopathy skos:exactMatch SCTID:23680005 semapv:UnspecifiedMatching MONDO:0002183 enthesopathy skos:exactMatch UMLS:C0242490 semapv:UnspecifiedMatching MONDO:0002183 enthesopathy skos:exactMatch mesh:D000070676 semapv:UnspecifiedMatching MONDO:0002184 drug-induced hepatitis skos:exactMatch DOID:2044 drug-induced hepatitis semapv:UnspecifiedMatching MONDO:0002184 drug-induced hepatitis skos:exactMatch SCTID:235889003 semapv:UnspecifiedMatching MONDO:0002185 hyperostosis skos:exactMatch DOID:205 hyperostosis semapv:UnspecifiedMatching MONDO:0002185 hyperostosis skos:exactMatch NCIT:C34712 Hyperostosis semapv:UnspecifiedMatching MONDO:0002185 hyperostosis skos:exactMatch SCTID:203514008 semapv:UnspecifiedMatching MONDO:0002185 hyperostosis skos:exactMatch UMLS:C0020492 semapv:UnspecifiedMatching MONDO:0002185 hyperostosis skos:exactMatch mesh:D015576 semapv:UnspecifiedMatching MONDO:0002186 acute maxillary sinusitis skos:exactMatch DOID:2050 acute maxillary sinusitis semapv:UnspecifiedMatching MONDO:0002186 acute maxillary sinusitis skos:exactMatch ICD10CM:J01.0 Acute maxillary sinusitis semapv:UnspecifiedMatching MONDO:0002186 acute maxillary sinusitis skos:exactMatch SCTID:68272006 semapv:UnspecifiedMatching MONDO:0002186 acute maxillary sinusitis skos:exactMatch UMLS:C0155804 semapv:UnspecifiedMatching MONDO:0002187 vulvar disease skos:exactMatch DOID:2059 vulvar disease semapv:UnspecifiedMatching MONDO:0002187 vulvar disease skos:exactMatch NCIT:C27631 Vulvar Disorder semapv:UnspecifiedMatching MONDO:0002187 vulvar disease skos:exactMatch SCTID:5089007 semapv:UnspecifiedMatching MONDO:0002187 vulvar disease skos:exactMatch UMLS:C0042994 semapv:UnspecifiedMatching MONDO:0002187 vulvar disease skos:exactMatch mesh:D014845 semapv:UnspecifiedMatching MONDO:0002188 vulvar nodular hidradenoma skos:exactMatch DOID:2060 vulvar nodular hidradenoma semapv:UnspecifiedMatching MONDO:0002188 vulvar nodular hidradenoma skos:exactMatch NCIT:C40312 Vulvar Nodular Hidradenoma semapv:UnspecifiedMatching MONDO:0002188 vulvar nodular hidradenoma skos:exactMatch UMLS:C1520091 semapv:UnspecifiedMatching MONDO:0002189 nodular hidradenoma skos:exactMatch DOID:2061 nodular hidradenoma semapv:UnspecifiedMatching MONDO:0002189 nodular hidradenoma skos:exactMatch NCIT:C7568 Nodular Hidradenoma semapv:UnspecifiedMatching MONDO:0002189 nodular hidradenoma skos:exactMatch SCTID:253020008 semapv:UnspecifiedMatching MONDO:0002190 vulvar syringoma skos:exactMatch DOID:2064 vulvar syringoma semapv:UnspecifiedMatching MONDO:0002190 vulvar syringoma skos:exactMatch NCIT:C40311 Vulvar Syringoma semapv:UnspecifiedMatching MONDO:0002190 vulvar syringoma skos:exactMatch UMLS:C1520099 semapv:UnspecifiedMatching MONDO:0002191 syringoma skos:exactMatch DOID:2065 syringoma semapv:UnspecifiedMatching MONDO:0002191 syringoma skos:exactMatch NCIT:C3761 Syringoma semapv:UnspecifiedMatching MONDO:0002191 syringoma skos:exactMatch SCTID:302828001 semapv:UnspecifiedMatching MONDO:0002191 syringoma skos:exactMatch UMLS:C0206673 semapv:UnspecifiedMatching MONDO:0002191 syringoma skos:exactMatch mesh:D018252 semapv:UnspecifiedMatching MONDO:0002192 vulvar angiokeratoma skos:exactMatch DOID:2066 vulvar angiokeratoma semapv:UnspecifiedMatching MONDO:0002192 vulvar angiokeratoma skos:exactMatch NCIT:C8596 Vulvar Angiokeratoma semapv:UnspecifiedMatching MONDO:0002192 vulvar angiokeratoma skos:exactMatch SCTID:402841001 semapv:UnspecifiedMatching MONDO:0002192 vulvar angiokeratoma skos:exactMatch UMLS:C1274281 semapv:UnspecifiedMatching MONDO:0002193 Bartholin gland benign neoplasm skos:exactMatch DOID:2068 Bartholin's gland benign neoplasm semapv:UnspecifiedMatching MONDO:0002193 Bartholin gland benign neoplasm skos:exactMatch SCTID:189130001 semapv:UnspecifiedMatching MONDO:0002194 vestibular papilloma skos:exactMatch DOID:2071 vulvar squamous papilloma semapv:UnspecifiedMatching MONDO:0002194 vestibular papilloma skos:exactMatch NCIT:C6376 Vulvar Squamous Papilloma semapv:UnspecifiedMatching MONDO:0002194 vestibular papilloma skos:exactMatch UMLS:C1336982 semapv:UnspecifiedMatching MONDO:0002195 vulvar squamous neoplasm skos:exactMatch DOID:2072 vulvar squamous tumor semapv:UnspecifiedMatching MONDO:0002195 vulvar squamous neoplasm skos:exactMatch NCIT:C40283 Vulvar Squamous Neoplasm semapv:UnspecifiedMatching MONDO:0002195 vulvar squamous neoplasm skos:exactMatch UMLS:C1520097 semapv:UnspecifiedMatching MONDO:0002196 perinatal intestinal perforation skos:exactMatch DOID:2073 perinatal intestinal perforation semapv:UnspecifiedMatching MONDO:0002196 perinatal intestinal perforation skos:exactMatch ICD10CM:P78.0 Perinatal intestinal perforation semapv:UnspecifiedMatching MONDO:0002196 perinatal intestinal perforation skos:exactMatch SCTID:65390006 semapv:UnspecifiedMatching MONDO:0002196 perinatal intestinal perforation skos:exactMatch UMLS:C0159006 semapv:UnspecifiedMatching MONDO:0002197 minor vestibular glands adenoma skos:exactMatch DOID:2075 minor vestibular glands adenoma semapv:UnspecifiedMatching MONDO:0002197 minor vestibular glands adenoma skos:exactMatch NCIT:C40301 Adenoma of Minor Vestibular Glands semapv:UnspecifiedMatching MONDO:0002197 minor vestibular glands adenoma skos:exactMatch UMLS:C1510791 semapv:UnspecifiedMatching MONDO:0002198 vulvar glandular neoplasm skos:exactMatch DOID:2076 vulvar glandular tumor semapv:UnspecifiedMatching MONDO:0002198 vulvar glandular neoplasm skos:exactMatch NCIT:C40292 Vulvar Glandular Neoplasm semapv:UnspecifiedMatching MONDO:0002198 vulvar glandular neoplasm skos:exactMatch UMLS:C1520082 semapv:UnspecifiedMatching MONDO:0002199 benign mixed tumor of the vulva skos:exactMatch DOID:2078 chondroid syringoma of the vulva semapv:UnspecifiedMatching MONDO:0002199 benign mixed tumor of the vulva skos:exactMatch NCIT:C40302 Vulvar Chondroid Syringoma semapv:UnspecifiedMatching MONDO:0002199 benign mixed tumor of the vulva skos:exactMatch UMLS:C1511091 semapv:UnspecifiedMatching MONDO:0002200 eccrine mixed tumor of skin skos:exactMatch DOID:2079 eccrine mixed tumor of skin semapv:UnspecifiedMatching MONDO:0002200 eccrine mixed tumor of skin skos:exactMatch NCIT:C4474 Chondroid Syringoma semapv:UnspecifiedMatching MONDO:0002200 eccrine mixed tumor of skin skos:exactMatch SCTID:254720009 semapv:UnspecifiedMatching MONDO:0002200 eccrine mixed tumor of skin skos:exactMatch UMLS:C0346026 semapv:UnspecifiedMatching MONDO:0002201 vulvar trichoepithelioma skos:exactMatch DOID:2080 vulvar trichoepithelioma semapv:UnspecifiedMatching MONDO:0002201 vulvar trichoepithelioma skos:exactMatch NCIT:C40314 Vulvar Trichoepithelioma semapv:UnspecifiedMatching MONDO:0002201 vulvar trichoepithelioma skos:exactMatch UMLS:C1520100 semapv:UnspecifiedMatching MONDO:0002202 outlet dysfunction constipation skos:exactMatch ICD10CM:K59.02 Outlet dysfunction constipation semapv:UnspecifiedMatching MONDO:0002203 constipation disorder skos:exactMatch ICD10CM:K59.0 Constipation semapv:UnspecifiedMatching MONDO:0002203 constipation disorder skos:exactMatch NCIT:C37930 Constipation semapv:UnspecifiedMatching MONDO:0002203 constipation disorder skos:exactMatch SCTID:14760008 semapv:UnspecifiedMatching MONDO:0002203 constipation disorder skos:exactMatch mesh:D003248 semapv:UnspecifiedMatching MONDO:0002204 transient arthritis skos:exactMatch DOID:2092 transient arthritis semapv:UnspecifiedMatching MONDO:0002204 transient arthritis skos:exactMatch SCTID:6011000119108 semapv:UnspecifiedMatching MONDO:0002204 transient arthritis skos:exactMatch UMLS:C3887596 semapv:UnspecifiedMatching MONDO:0002205 vulvar melanoma skos:exactMatch DOID:2093 vulvar melanoma semapv:UnspecifiedMatching MONDO:0002205 vulvar melanoma skos:exactMatch NCIT:C40329 Vulvar Melanoma semapv:UnspecifiedMatching MONDO:0002205 vulvar melanoma skos:exactMatch SCTID:254896002 semapv:UnspecifiedMatching MONDO:0002205 vulvar melanoma skos:exactMatch UMLS:C0241989 semapv:UnspecifiedMatching MONDO:0002206 sweat gland cancer skos:exactMatch DOID:2095 sweat gland cancer semapv:UnspecifiedMatching MONDO:0002206 sweat gland cancer skos:exactMatch NCIT:C4810 Malignant Sweat Gland Neoplasm semapv:UnspecifiedMatching MONDO:0002206 sweat gland cancer skos:exactMatch UMLS:C1321904 semapv:UnspecifiedMatching MONDO:0002207 vulval Paget disease skos:exactMatch DOID:2097 vulval Paget's disease semapv:UnspecifiedMatching MONDO:0002207 vulval Paget disease skos:exactMatch NCIT:C4027 Vulvar Paget Disease semapv:UnspecifiedMatching MONDO:0002207 vulval Paget disease skos:exactMatch SCTID:254898001 semapv:UnspecifiedMatching MONDO:0002207 vulval Paget disease skos:exactMatch UMLS:C1275217 semapv:UnspecifiedMatching MONDO:0002209 heel spur skos:exactMatch DOID:210 heel spur semapv:UnspecifiedMatching MONDO:0002209 heel spur skos:exactMatch ICD10CM:M77.3 Calcaneal spur semapv:UnspecifiedMatching MONDO:0002209 heel spur skos:exactMatch SCTID:55260003 semapv:UnspecifiedMatching MONDO:0002209 heel spur skos:exactMatch UMLS:C0158322 semapv:UnspecifiedMatching MONDO:0002209 heel spur skos:exactMatch mesh:D036982 semapv:UnspecifiedMatching MONDO:0002211 B cell deficiency skos:exactMatch DOID:2115 B cell deficiency semapv:UnspecifiedMatching MONDO:0002211 B cell deficiency skos:exactMatch NCIT:C4799 Deficiency of Humoral Immunity semapv:UnspecifiedMatching MONDO:0002212 pneumonic tularemia skos:exactMatch DOID:2122 pneumonic tularemia semapv:UnspecifiedMatching MONDO:0002212 pneumonic tularemia skos:exactMatch SCTID:45556008 semapv:UnspecifiedMatching MONDO:0002212 pneumonic tularemia skos:exactMatch UMLS:C0339946 semapv:UnspecifiedMatching MONDO:0002214 brain germinoma skos:exactMatch DOID:2127 brain germinoma semapv:UnspecifiedMatching MONDO:0002214 brain germinoma skos:exactMatch NCIT:C6284 Brain Germinoma semapv:UnspecifiedMatching MONDO:0002214 brain germinoma skos:exactMatch UMLS:C1332606 semapv:UnspecifiedMatching MONDO:0002216 brain sarcoma skos:exactMatch DOID:2132 brain sarcoma semapv:UnspecifiedMatching MONDO:0002216 brain sarcoma skos:exactMatch NCIT:C5154 Brain Sarcoma semapv:UnspecifiedMatching MONDO:0002216 brain sarcoma skos:exactMatch UMLS:C1332607 semapv:UnspecifiedMatching MONDO:0002217 central nervous system sarcoma skos:exactMatch DOID:2133 central nervous system sarcoma semapv:UnspecifiedMatching MONDO:0002217 central nervous system sarcoma skos:exactMatch NCIT:C5153 Central Nervous System Sarcoma semapv:UnspecifiedMatching MONDO:0002217 central nervous system sarcoma skos:exactMatch UMLS:C1332892 semapv:UnspecifiedMatching MONDO:0002218 temporal lobe cancer skos:exactMatch DOID:2135 temporal lobe neoplasm semapv:UnspecifiedMatching MONDO:0002218 temporal lobe cancer skos:exactMatch ICD10CM:C71.2 Malignant neoplasm of temporal lobe semapv:UnspecifiedMatching MONDO:0002218 temporal lobe cancer skos:exactMatch SCTID:363468009 semapv:UnspecifiedMatching MONDO:0002218 temporal lobe cancer skos:exactMatch UMLS:C0153636 semapv:UnspecifiedMatching MONDO:0002219 paraurethral gland neoplasm skos:exactMatch DOID:2139 paraurethral gland neoplasm semapv:UnspecifiedMatching MONDO:0002219 paraurethral gland neoplasm skos:exactMatch SCTID:126884005 semapv:UnspecifiedMatching MONDO:0002219 paraurethral gland neoplasm skos:exactMatch UMLS:C0341766 semapv:UnspecifiedMatching MONDO:0002220 tooth hard tissue disease skos:exactMatch DOID:214 teeth hard tissue disease semapv:UnspecifiedMatching MONDO:0002220 tooth hard tissue disease skos:exactMatch ICD10CM:K03 Other diseases of hard tissues of teeth semapv:UnspecifiedMatching MONDO:0002220 tooth hard tissue disease skos:exactMatch SCTID:46557008 semapv:UnspecifiedMatching MONDO:0002220 tooth hard tissue disease skos:exactMatch UMLS:C0155926 semapv:UnspecifiedMatching MONDO:0002221 urethral urothelial papilloma skos:exactMatch DOID:2140 urethral urothelial papilloma semapv:UnspecifiedMatching MONDO:0002221 urethral urothelial papilloma skos:exactMatch NCIT:C5061 Urethral Urothelial Papilloma semapv:UnspecifiedMatching MONDO:0002221 urethral urothelial papilloma skos:exactMatch UMLS:C1519826 semapv:UnspecifiedMatching MONDO:0002222 urethra leiomyoma skos:exactMatch DOID:2142 urethra leiomyoma semapv:UnspecifiedMatching MONDO:0002222 urethra leiomyoma skos:exactMatch NCIT:C6171 Urethral Leiomyoma semapv:UnspecifiedMatching MONDO:0002222 urethra leiomyoma skos:exactMatch UMLS:C1336888 semapv:UnspecifiedMatching MONDO:0002223 ovarian malignant mesothelioma skos:exactMatch DOID:2143 ovarian malignant mesothelioma semapv:UnspecifiedMatching MONDO:0002223 ovarian malignant mesothelioma skos:exactMatch NCIT:C40444 Ovarian Malignant Mesothelioma semapv:UnspecifiedMatching MONDO:0002223 ovarian malignant mesothelioma skos:exactMatch UMLS:C1518721 semapv:UnspecifiedMatching MONDO:0002224 malignant ovarian cyst skos:exactMatch DOID:2145 malignant ovarian cyst semapv:UnspecifiedMatching MONDO:0002224 malignant ovarian cyst skos:exactMatch NCIT:C3843 Malignant Ovarian Cyst semapv:UnspecifiedMatching MONDO:0002224 malignant ovarian cyst skos:exactMatch UMLS:C0235770 semapv:UnspecifiedMatching MONDO:0002225 ovarian sarcoma skos:exactMatch DOID:2146 ovary sarcoma semapv:UnspecifiedMatching MONDO:0002225 ovarian sarcoma skos:exactMatch NCIT:C8267 Ovarian Sarcoma semapv:UnspecifiedMatching MONDO:0002225 ovarian sarcoma skos:exactMatch SCTID:423627007 semapv:UnspecifiedMatching MONDO:0002225 ovarian sarcoma skos:exactMatch UMLS:C0280746 semapv:UnspecifiedMatching MONDO:0002226 tuberculous oophoritis skos:exactMatch DOID:2148 tuberculous oophoritis semapv:UnspecifiedMatching MONDO:0002226 tuberculous oophoritis skos:exactMatch SCTID:84194006 semapv:UnspecifiedMatching MONDO:0002226 tuberculous oophoritis skos:exactMatch UMLS:C0275932 semapv:UnspecifiedMatching MONDO:0002227 ovarian lymphoma skos:exactMatch DOID:2150 ovarian lymphoma semapv:UnspecifiedMatching MONDO:0002227 ovarian lymphoma skos:exactMatch NCIT:C40021 Ovarian Lymphoma semapv:UnspecifiedMatching MONDO:0002227 ovarian lymphoma skos:exactMatch UMLS:C1518720 semapv:UnspecifiedMatching MONDO:0002229 ovarian epithelial tumor skos:exactMatch DOID:2152 ovary epithelial cancer semapv:UnspecifiedMatching MONDO:0002229 ovarian epithelial tumor skos:exactMatch NCIT:C4381 Ovarian Epithelial Tumor semapv:UnspecifiedMatching MONDO:0002229 ovarian epithelial tumor skos:exactMatch SCTID:237057005 semapv:UnspecifiedMatching MONDO:0002229 ovarian epithelial tumor skos:exactMatch UMLS:C0341823 semapv:UnspecifiedMatching MONDO:0002230 ovarian Wilms tumor skos:exactMatch DOID:2153 ovarian Wilms' cancer semapv:UnspecifiedMatching MONDO:0002230 ovarian Wilms tumor skos:exactMatch NCIT:C40443 Ovarian Wilms Tumor semapv:UnspecifiedMatching MONDO:0002230 ovarian Wilms tumor skos:exactMatch UMLS:C1518746 semapv:UnspecifiedMatching MONDO:0002232 nasal cavity disorder skos:exactMatch DOID:2163 nasal cavity disease semapv:UnspecifiedMatching MONDO:0002232 nasal cavity disorder skos:exactMatch NCIT:C27102 Nasal Cavity Disorder semapv:UnspecifiedMatching MONDO:0002232 nasal cavity disorder skos:exactMatch SCTID:232340005 semapv:UnspecifiedMatching MONDO:0002232 nasal cavity disorder skos:exactMatch UMLS:C0339820 semapv:UnspecifiedMatching MONDO:0002233 enamel caries skos:exactMatch DOID:217 enamel caries semapv:UnspecifiedMatching MONDO:0002233 enamel caries skos:exactMatch SCTID:80353004 semapv:UnspecifiedMatching MONDO:0002233 enamel caries skos:exactMatch UMLS:C0266853 semapv:UnspecifiedMatching MONDO:0002234 vaginitis skos:exactMatch DOID:2170 vaginitis semapv:UnspecifiedMatching MONDO:0002234 vaginitis skos:exactMatch NCIT:C26911 Vaginitis semapv:UnspecifiedMatching MONDO:0002234 vaginitis skos:exactMatch SCTID:30800001 semapv:UnspecifiedMatching MONDO:0002234 vaginitis skos:exactMatch UMLS:C0042267 semapv:UnspecifiedMatching MONDO:0002234 vaginitis skos:exactMatch mesh:D014627 semapv:UnspecifiedMatching MONDO:0002235 eyelid neoplasm skos:exactMatch DOID:2173 eyelid benign neoplasm semapv:UnspecifiedMatching MONDO:0002235 eyelid neoplasm skos:exactMatch NCIT:C3031 Eyelid Neoplasm semapv:UnspecifiedMatching MONDO:0002235 eyelid neoplasm skos:exactMatch SCTID:278697001 semapv:UnspecifiedMatching MONDO:0002235 eyelid neoplasm skos:exactMatch UMLS:C0015424 semapv:UnspecifiedMatching MONDO:0002235 eyelid neoplasm skos:exactMatch mesh:D005142 semapv:UnspecifiedMatching MONDO:0002236 ocular cancer skos:exactMatch DOID:2174 ocular cancer semapv:UnspecifiedMatching MONDO:0002236 ocular cancer skos:exactMatch NCIT:C4767 Malignant Eye Neoplasm semapv:UnspecifiedMatching MONDO:0002236 ocular cancer skos:exactMatch SCTID:371486001 semapv:UnspecifiedMatching MONDO:0002236 ocular cancer skos:exactMatch mesh:D005134 semapv:UnspecifiedMatching MONDO:0002237 carbuncle skos:exactMatch DOID:2176 carbuncle semapv:UnspecifiedMatching MONDO:0002237 carbuncle skos:exactMatch SCTID:416893007 semapv:UnspecifiedMatching MONDO:0002237 carbuncle skos:exactMatch UMLS:C0007078 semapv:UnspecifiedMatching MONDO:0002237 carbuncle skos:exactMatch mesh:D002270 semapv:UnspecifiedMatching MONDO:0002238 ascending colon cancer skos:exactMatch DOID:218 ascending colon cancer semapv:UnspecifiedMatching MONDO:0002238 ascending colon cancer skos:exactMatch SCTID:363412000 semapv:UnspecifiedMatching MONDO:0002238 ascending colon cancer skos:exactMatch UMLS:C0153439 semapv:UnspecifiedMatching MONDO:0002239 post-surgical hypoinsulinemia skos:exactMatch DOID:2181 post-surgical hypoinsulinemia semapv:UnspecifiedMatching MONDO:0002239 post-surgical hypoinsulinemia skos:exactMatch SCTID:190437000 semapv:UnspecifiedMatching MONDO:0002239 post-surgical hypoinsulinemia skos:exactMatch UMLS:C0154190 semapv:UnspecifiedMatching MONDO:0002240 acute perichondritis of pinna skos:exactMatch DOID:221 acute perichondritis of pinna semapv:UnspecifiedMatching MONDO:0002240 acute perichondritis of pinna skos:exactMatch SCTID:45855004 semapv:UnspecifiedMatching MONDO:0002240 acute perichondritis of pinna skos:exactMatch UMLS:C0155390 semapv:UnspecifiedMatching MONDO:0002241 factor XIII deficiency skos:exactMatch mesh:D005177 semapv:UnspecifiedMatching MONDO:0002242 coagulation protein disease skos:exactMatch NCIT:C27215 Coagulation Factor Deficiency semapv:UnspecifiedMatching MONDO:0002242 coagulation protein disease skos:exactMatch SCTID:86075001 semapv:UnspecifiedMatching MONDO:0002242 coagulation protein disease skos:exactMatch UMLS:C0600503 semapv:UnspecifiedMatching MONDO:0002242 coagulation protein disease skos:exactMatch mesh:D020147 semapv:UnspecifiedMatching MONDO:0002243 hemorrhagic disease skos:exactMatch DOID:2213 hemorrhagic disease semapv:UnspecifiedMatching MONDO:0002243 hemorrhagic disease skos:exactMatch NCIT:C115221 Bleeding Diathesis semapv:UnspecifiedMatching MONDO:0002243 hemorrhagic disease skos:exactMatch mesh:D006474 semapv:UnspecifiedMatching MONDO:0002244 factor VII deficiency skos:exactMatch SCTID:37193007 semapv:UnspecifiedMatching MONDO:0002244 factor VII deficiency skos:exactMatch UMLS:C0015503 semapv:UnspecifiedMatching MONDO:0002244 factor VII deficiency skos:exactMatch mesh:D005168 semapv:UnspecifiedMatching MONDO:0002245 blood platelet disease skos:exactMatch NCIT:C131634 Platelet Disorder semapv:UnspecifiedMatching MONDO:0002245 blood platelet disease skos:exactMatch SCTID:22716005 semapv:UnspecifiedMatching MONDO:0002245 blood platelet disease skos:exactMatch mesh:D001791 semapv:UnspecifiedMatching MONDO:0002246 perichondritis of auricle skos:exactMatch DOID:222 perichondritis of auricle semapv:UnspecifiedMatching MONDO:0002246 perichondritis of auricle skos:exactMatch SCTID:34129005 semapv:UnspecifiedMatching MONDO:0002246 perichondritis of auricle skos:exactMatch UMLS:C0155389 semapv:UnspecifiedMatching MONDO:0002247 factor X deficiency skos:exactMatch NCIT:C131632 Factor X Deficiency semapv:UnspecifiedMatching MONDO:0002247 factor X deficiency skos:exactMatch SCTID:76642003 semapv:UnspecifiedMatching MONDO:0002247 factor X deficiency skos:exactMatch mesh:D005171 semapv:UnspecifiedMatching MONDO:0002249 thrombocytosis disease skos:exactMatch DOID:2228 thrombocytosis semapv:UnspecifiedMatching MONDO:0002249 thrombocytosis disease skos:exactMatch NCIT:C35530 Thrombocytosis semapv:UnspecifiedMatching MONDO:0002249 thrombocytosis disease skos:exactMatch SCTID:6631009 semapv:UnspecifiedMatching MONDO:0002249 thrombocytosis disease skos:exactMatch UMLS:C0836924 semapv:UnspecifiedMatching MONDO:0002249 thrombocytosis disease skos:exactMatch mesh:D013922 semapv:UnspecifiedMatching MONDO:0002250 basilar artery insufficiency skos:exactMatch DOID:223 basilar artery insufficiency semapv:UnspecifiedMatching MONDO:0002250 basilar artery insufficiency skos:exactMatch NCIT:C34413 Basilar Artery Syndrome semapv:UnspecifiedMatching MONDO:0002250 basilar artery insufficiency skos:exactMatch SCTID:64009001 semapv:UnspecifiedMatching MONDO:0002250 basilar artery insufficiency skos:exactMatch UMLS:C0004812 semapv:UnspecifiedMatching MONDO:0002251 hepatitis skos:exactMatch DOID:2237 hepatitis semapv:UnspecifiedMatching MONDO:0002251 hepatitis skos:exactMatch NCIT:C3095 Hepatitis semapv:UnspecifiedMatching MONDO:0002251 hepatitis skos:exactMatch SCTID:197268000 semapv:UnspecifiedMatching MONDO:0002251 hepatitis skos:exactMatch mesh:D006505 semapv:UnspecifiedMatching MONDO:0002252 granulomatous hepatitis skos:exactMatch DOID:2239 granulomatous hepatitis semapv:UnspecifiedMatching MONDO:0002252 granulomatous hepatitis skos:exactMatch NCIT:C27015 Granulomatous Hepatitis semapv:UnspecifiedMatching MONDO:0002252 granulomatous hepatitis skos:exactMatch SCTID:86514004 semapv:UnspecifiedMatching MONDO:0002252 granulomatous hepatitis skos:exactMatch UMLS:C0235369 semapv:UnspecifiedMatching MONDO:0002253 spondylosis skos:exactMatch DOID:2247 spondylosis semapv:UnspecifiedMatching MONDO:0002253 spondylosis skos:exactMatch ICD10CM:M47 Spondylosis semapv:UnspecifiedMatching MONDO:0002253 spondylosis skos:exactMatch SCTID:48210000 semapv:UnspecifiedMatching MONDO:0002253 spondylosis skos:exactMatch UMLS:C0038019 semapv:UnspecifiedMatching MONDO:0002253 spondylosis skos:exactMatch mesh:D055009 semapv:UnspecifiedMatching MONDO:0002254 syndromic disease skos:exactMatch DOID:225 syndrome semapv:UnspecifiedMatching MONDO:0002254 syndromic disease skos:exactMatch NCIT:C28193 Syndrome semapv:UnspecifiedMatching MONDO:0002254 syndromic disease skos:exactMatch UMLS:C0039082 semapv:UnspecifiedMatching MONDO:0002254 syndromic disease skos:exactMatch mesh:D013577 semapv:UnspecifiedMatching MONDO:0002255 hypertrophic elongation of cervix skos:exactMatch DOID:2251 hypertrophic elongation of cervix semapv:UnspecifiedMatching MONDO:0002255 hypertrophic elongation of cervix skos:exactMatch SCTID:198353000 semapv:UnspecifiedMatching MONDO:0002255 hypertrophic elongation of cervix skos:exactMatch UMLS:C0020561 semapv:UnspecifiedMatching MONDO:0002256 cervix disorder skos:exactMatch DOID:2253 cervix disease semapv:UnspecifiedMatching MONDO:0002256 cervix disorder skos:exactMatch NCIT:C40241 Cervical Disorder semapv:UnspecifiedMatching MONDO:0002256 cervix disorder skos:exactMatch SCTID:63339007 semapv:UnspecifiedMatching MONDO:0002256 cervix disorder skos:exactMatch UMLS:C0007867 semapv:UnspecifiedMatching MONDO:0002256 cervix disorder skos:exactMatch mesh:D002577 semapv:UnspecifiedMatching MONDO:0002257 ankylosis skos:exactMatch DOID:227 ankylosis semapv:UnspecifiedMatching MONDO:0002257 ankylosis skos:exactMatch SCTID:111227009 semapv:UnspecifiedMatching MONDO:0002257 ankylosis skos:exactMatch mesh:D000844 semapv:UnspecifiedMatching MONDO:0002258 pharyngitis skos:exactMatch DOID:2275 pharyngitis semapv:UnspecifiedMatching MONDO:0002258 pharyngitis skos:exactMatch NCIT:C26851 Pharyngitis semapv:UnspecifiedMatching MONDO:0002258 pharyngitis skos:exactMatch SCTID:405737000 semapv:UnspecifiedMatching MONDO:0002258 pharyngitis skos:exactMatch UMLS:C0031350 semapv:UnspecifiedMatching MONDO:0002258 pharyngitis skos:exactMatch mesh:D010612 semapv:UnspecifiedMatching MONDO:0002259 gonadal disorder skos:exactMatch DOID:2277 gonadal disease semapv:UnspecifiedMatching MONDO:0002259 gonadal disorder skos:exactMatch NCIT:C26786 Gonadal Disorder semapv:UnspecifiedMatching MONDO:0002259 gonadal disorder skos:exactMatch UMLS:C0018050 semapv:UnspecifiedMatching MONDO:0002259 gonadal disorder skos:exactMatch mesh:D006058 semapv:UnspecifiedMatching MONDO:0002260 hidradenitis skos:exactMatch DOID:2282 hidradenitis semapv:UnspecifiedMatching MONDO:0002260 hidradenitis skos:exactMatch NCIT:C32132 Apocrine Sweat Gland semapv:UnspecifiedMatching MONDO:0002260 hidradenitis skos:exactMatch SCTID:69741000 semapv:UnspecifiedMatching MONDO:0002260 hidradenitis skos:exactMatch UMLS:C0085160 semapv:UnspecifiedMatching MONDO:0002260 hidradenitis skos:exactMatch mesh:D016575 semapv:UnspecifiedMatching MONDO:0002261 keratopathy skos:exactMatch DOID:2283 keratopathy semapv:UnspecifiedMatching MONDO:0002261 keratopathy skos:exactMatch NCIT:C27012 Keratopathy semapv:UnspecifiedMatching MONDO:0002261 keratopathy skos:exactMatch UMLS:C0235270 semapv:UnspecifiedMatching MONDO:0002262 capillary lymphangioma skos:exactMatch DOID:2286 capillary lymphangioma semapv:UnspecifiedMatching MONDO:0002262 capillary lymphangioma skos:exactMatch SCTID:445492005 semapv:UnspecifiedMatching MONDO:0002263 female reproductive system disorder skos:exactMatch DOID:229 female reproductive system disease semapv:UnspecifiedMatching MONDO:0002263 female reproductive system disorder skos:exactMatch NCIT:C27020 Female Reproductive System Disorder semapv:UnspecifiedMatching MONDO:0002263 female reproductive system disorder skos:exactMatch SCTID:310789003 semapv:UnspecifiedMatching MONDO:0002263 female reproductive system disorder skos:exactMatch mesh:D005831 semapv:UnspecifiedMatching MONDO:0002264 obsolete atrophy of prostate skos:exactMatch DOID:2301 atrophy of prostate semapv:UnspecifiedMatching MONDO:0002264 obsolete atrophy of prostate skos:exactMatch ICD10WHO:N42.2 Atrophy of prostate semapv:UnspecifiedMatching MONDO:0002264 obsolete atrophy of prostate skos:exactMatch SCTID:29524003 semapv:UnspecifiedMatching MONDO:0002264 obsolete atrophy of prostate skos:exactMatch UMLS:C0156296 semapv:UnspecifiedMatching MONDO:0002265 stereotypic movement disorder skos:exactMatch DOID:2303 stereotypic movement disorder semapv:UnspecifiedMatching MONDO:0002265 stereotypic movement disorder skos:exactMatch SCTID:5507002 semapv:UnspecifiedMatching MONDO:0002265 stereotypic movement disorder skos:exactMatch mesh:D019956 semapv:UnspecifiedMatching MONDO:0002266 malt worker's lung skos:exactMatch DOID:2314 malt worker's lung semapv:UnspecifiedMatching MONDO:0002266 malt worker's lung skos:exactMatch SCTID:25897000 semapv:UnspecifiedMatching MONDO:0002266 malt worker's lung skos:exactMatch UMLS:C0155888 semapv:UnspecifiedMatching MONDO:0002267 obstructive lung disease skos:exactMatch DOID:2320 obstructive lung disease semapv:UnspecifiedMatching MONDO:0002267 obstructive lung disease skos:exactMatch UMLS:C0001883 semapv:UnspecifiedMatching MONDO:0002267 obstructive lung disease skos:exactMatch mesh:D008173 semapv:UnspecifiedMatching MONDO:0002268 dyspepsia skos:exactMatch NCIT:C26756 Dyspepsia semapv:UnspecifiedMatching MONDO:0002268 dyspepsia skos:exactMatch mesh:D004415 semapv:UnspecifiedMatching MONDO:0002269 gastroenteritis skos:exactMatch DOID:2326 gastroenteritis semapv:UnspecifiedMatching MONDO:0002269 gastroenteritis skos:exactMatch NCIT:C34632 Gastroenteritis semapv:UnspecifiedMatching MONDO:0002269 gastroenteritis skos:exactMatch SCTID:25374005 semapv:UnspecifiedMatching MONDO:0002269 gastroenteritis skos:exactMatch UMLS:C0017160 semapv:UnspecifiedMatching MONDO:0002269 gastroenteritis skos:exactMatch mesh:D005759 semapv:UnspecifiedMatching MONDO:0002270 viral gastritis skos:exactMatch DOID:2327 viral gastritis semapv:UnspecifiedMatching MONDO:0002270 viral gastritis skos:exactMatch NCIT:C27184 Viral Gastritis semapv:UnspecifiedMatching MONDO:0002270 viral gastritis skos:exactMatch SCTID:285344007 semapv:UnspecifiedMatching MONDO:0002270 viral gastritis skos:exactMatch UMLS:C0563238 semapv:UnspecifiedMatching MONDO:0002271 colon adenocarcinoma skos:exactMatch DOID:234 colon adenocarcinoma semapv:UnspecifiedMatching MONDO:0002271 colon adenocarcinoma skos:exactMatch NCIT:C4349 Colon Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002271 colon adenocarcinoma skos:exactMatch UMLS:C0338106 semapv:UnspecifiedMatching MONDO:0002272 polyclonal hypergammaglobulinemia skos:exactMatch DOID:2344 polyclonal hypergammaglobulinemia semapv:UnspecifiedMatching MONDO:0002272 polyclonal hypergammaglobulinemia skos:exactMatch ICD10CM:D89.0 Polyclonal hypergammaglobulinemia semapv:UnspecifiedMatching MONDO:0002272 polyclonal hypergammaglobulinemia skos:exactMatch NCIT:C35885 Polyclonal Hypergammaglobulinemia semapv:UnspecifiedMatching MONDO:0002272 polyclonal hypergammaglobulinemia skos:exactMatch SCTID:190808009 semapv:UnspecifiedMatching MONDO:0002272 polyclonal hypergammaglobulinemia skos:exactMatch UMLS:C0154254 semapv:UnspecifiedMatching MONDO:0002273 plasma protein metabolism disease skos:exactMatch DOID:2345 plasma protein metabolism disease semapv:UnspecifiedMatching MONDO:0002274 monoclonal paraproteinemia disease skos:exactMatch DOID:2346 monoclonal paraproteinemia semapv:UnspecifiedMatching MONDO:0002274 monoclonal paraproteinemia disease skos:exactMatch SCTID:267440005 semapv:UnspecifiedMatching MONDO:0002274 monoclonal paraproteinemia disease skos:exactMatch UMLS:C0026471 semapv:UnspecifiedMatching MONDO:0002275 generalized atherosclerosis skos:exactMatch DOID:2347 generalized atherosclerosis semapv:UnspecifiedMatching MONDO:0002275 generalized atherosclerosis skos:exactMatch ICD10CM:I70.91 Generalized atherosclerosis semapv:UnspecifiedMatching MONDO:0002275 generalized atherosclerosis skos:exactMatch NCIT:C35767 Generalized Atherosclerosis semapv:UnspecifiedMatching MONDO:0002275 generalized atherosclerosis skos:exactMatch SCTID:39823006 semapv:UnspecifiedMatching MONDO:0002275 generalized atherosclerosis skos:exactMatch UMLS:C0017327 semapv:UnspecifiedMatching MONDO:0002277 arteriosclerosis disorder skos:exactMatch DOID:2348 arteriosclerotic cardiovascular disease semapv:UnspecifiedMatching MONDO:0002277 arteriosclerosis disorder skos:exactMatch DOID:2349 arteriosclerosis semapv:UnspecifiedMatching MONDO:0002277 arteriosclerosis disorder skos:exactMatch NCIT:C34398 Arteriosclerosis semapv:UnspecifiedMatching MONDO:0002277 arteriosclerosis disorder skos:exactMatch NCIT:C34403 Arteriosclerotic Cardiovascular Disease semapv:UnspecifiedMatching MONDO:0002277 arteriosclerosis disorder skos:exactMatch SCTID:72092001 semapv:UnspecifiedMatching MONDO:0002277 arteriosclerosis disorder skos:exactMatch UMLS:C0003850 semapv:UnspecifiedMatching MONDO:0002277 arteriosclerosis disorder skos:exactMatch UMLS:C3665365 semapv:UnspecifiedMatching MONDO:0002277 arteriosclerosis disorder skos:exactMatch mesh:D001161 semapv:UnspecifiedMatching MONDO:0002278 benign colon neoplasm skos:exactMatch DOID:235 colonic benign neoplasm semapv:UnspecifiedMatching MONDO:0002278 benign colon neoplasm skos:exactMatch NCIT:C2894 Benign Colon Neoplasm semapv:UnspecifiedMatching MONDO:0002278 benign colon neoplasm skos:exactMatch SCTID:92065004 semapv:UnspecifiedMatching MONDO:0002278 benign colon neoplasm skos:exactMatch UMLS:C0004991 semapv:UnspecifiedMatching MONDO:0002279 iron metabolism disease skos:exactMatch DOID:2351 iron metabolism disease semapv:UnspecifiedMatching MONDO:0002279 iron metabolism disease skos:exactMatch ICD10CM:E83.1 Disorders of iron metabolism semapv:UnspecifiedMatching MONDO:0002279 iron metabolism disease skos:exactMatch SCTID:30913008 semapv:UnspecifiedMatching MONDO:0002279 iron metabolism disease skos:exactMatch UMLS:C0012715 semapv:UnspecifiedMatching MONDO:0002279 iron metabolism disease skos:exactMatch mesh:D019189 semapv:UnspecifiedMatching MONDO:0002280 anemia skos:exactMatch DOID:2355 anemia semapv:UnspecifiedMatching MONDO:0002280 anemia skos:exactMatch NCIT:C2869 Anemia semapv:UnspecifiedMatching MONDO:0002280 anemia skos:exactMatch SCTID:271737000 semapv:UnspecifiedMatching MONDO:0002280 anemia skos:exactMatch mesh:D000740 semapv:UnspecifiedMatching MONDO:0002281 macrocytic anemia skos:exactMatch DOID:2361 macrocytic anemia semapv:UnspecifiedMatching MONDO:0002281 macrocytic anemia skos:exactMatch NCIT:C34381 Macrocytic Anemia semapv:UnspecifiedMatching MONDO:0002281 macrocytic anemia skos:exactMatch SCTID:83414005 semapv:UnspecifiedMatching MONDO:0002281 macrocytic anemia skos:exactMatch UMLS:C0002886 semapv:UnspecifiedMatching MONDO:0002281 macrocytic anemia skos:exactMatch mesh:D000748 semapv:UnspecifiedMatching MONDO:0002282 West Nile fever skos:exactMatch DOID:2366 West Nile fever semapv:UnspecifiedMatching MONDO:0002282 West Nile fever skos:exactMatch SCTID:417093003 semapv:UnspecifiedMatching MONDO:0002282 West Nile fever skos:exactMatch mesh:D014901 semapv:UnspecifiedMatching MONDO:0002283 neuroaxonal dystrophy skos:exactMatch DOID:2367 neuroaxonal dystrophy semapv:UnspecifiedMatching MONDO:0002283 neuroaxonal dystrophy skos:exactMatch NCIT:C161542 Neuroaxonal Dystrophy semapv:UnspecifiedMatching MONDO:0002283 neuroaxonal dystrophy skos:exactMatch SCTID:230365004 semapv:UnspecifiedMatching MONDO:0002283 neuroaxonal dystrophy skos:exactMatch UMLS:C0338473 semapv:UnspecifiedMatching MONDO:0002283 neuroaxonal dystrophy skos:exactMatch mesh:D019150 semapv:UnspecifiedMatching MONDO:0002285 pupil disorder skos:exactMatch DOID:238 pupil disease semapv:UnspecifiedMatching MONDO:0002285 pupil disorder skos:exactMatch SCTID:68633000 semapv:UnspecifiedMatching MONDO:0002285 pupil disorder skos:exactMatch UMLS:C0034124 semapv:UnspecifiedMatching MONDO:0002286 renal artery disease skos:exactMatch DOID:2388 renal artery disease semapv:UnspecifiedMatching MONDO:0002286 renal artery disease skos:exactMatch NCIT:C101254 Renal Artery Disease semapv:UnspecifiedMatching MONDO:0002286 renal artery disease skos:exactMatch SCTID:16934004 semapv:UnspecifiedMatching MONDO:0002286 renal artery disease skos:exactMatch UMLS:C3640053 semapv:UnspecifiedMatching MONDO:0002287 glandular cystitis skos:exactMatch DOID:2392 glandular cystitis semapv:UnspecifiedMatching MONDO:0002287 glandular cystitis skos:exactMatch NCIT:C39860 Cystitis Glandularis semapv:UnspecifiedMatching MONDO:0002287 glandular cystitis skos:exactMatch SCTID:72815004 semapv:UnspecifiedMatching MONDO:0002287 glandular cystitis skos:exactMatch UMLS:C0268837 semapv:UnspecifiedMatching MONDO:0002289 iris disorder skos:exactMatch DOID:240 iris disease semapv:UnspecifiedMatching MONDO:0002289 iris disorder skos:exactMatch NCIT:C34737 Iris Disorder semapv:UnspecifiedMatching MONDO:0002289 iris disorder skos:exactMatch SCTID:85478004 semapv:UnspecifiedMatching MONDO:0002289 iris disorder skos:exactMatch UMLS:C0022078 semapv:UnspecifiedMatching MONDO:0002289 iris disorder skos:exactMatch mesh:D007499 semapv:UnspecifiedMatching MONDO:0002290 clitoris cancer skos:exactMatch DOID:2401 clitoris cancer semapv:UnspecifiedMatching MONDO:0002290 clitoris cancer skos:exactMatch NCIT:C3557 Malignant Clitoral Neoplasm semapv:UnspecifiedMatching MONDO:0002290 clitoris cancer skos:exactMatch SCTID:371979001 semapv:UnspecifiedMatching MONDO:0002290 clitoris cancer skos:exactMatch UMLS:C0153589 semapv:UnspecifiedMatching MONDO:0002291 cutaneous granular cell tumor skos:exactMatch DOID:2410 skin granular cell tumor semapv:UnspecifiedMatching MONDO:0002291 cutaneous granular cell tumor skos:exactMatch NCIT:C5617 Cutaneous Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0002291 cutaneous granular cell tumor skos:exactMatch SCTID:254763007 semapv:UnspecifiedMatching MONDO:0002291 cutaneous granular cell tumor skos:exactMatch UMLS:C0346060 semapv:UnspecifiedMatching MONDO:0002293 cutaneous ganglioneuroma skos:exactMatch DOID:2425 cutaneous ganglioneuroma semapv:UnspecifiedMatching MONDO:0002293 cutaneous ganglioneuroma skos:exactMatch NCIT:C4481 Cutaneous Ganglioneuroma semapv:UnspecifiedMatching MONDO:0002293 cutaneous ganglioneuroma skos:exactMatch SCTID:254766004 semapv:UnspecifiedMatching MONDO:0002293 cutaneous ganglioneuroma skos:exactMatch UMLS:C0346063 semapv:UnspecifiedMatching MONDO:0002295 skin glomus tumor skos:exactMatch DOID:2430 skin glomus tumor semapv:UnspecifiedMatching MONDO:0002295 skin glomus tumor skos:exactMatch NCIT:C4491 Skin Glomus Tumor semapv:UnspecifiedMatching MONDO:0002295 skin glomus tumor skos:exactMatch SCTID:254795008 semapv:UnspecifiedMatching MONDO:0002295 skin glomus tumor skos:exactMatch UMLS:C0346083 semapv:UnspecifiedMatching MONDO:0002297 epidermal appendage tumor skos:exactMatch DOID:2433 epidermal appendage tumor semapv:UnspecifiedMatching MONDO:0002297 epidermal appendage tumor skos:exactMatch NCIT:C4463 Skin Appendage Neoplasm semapv:UnspecifiedMatching MONDO:0002297 epidermal appendage tumor skos:exactMatch SCTID:126489007 semapv:UnspecifiedMatching MONDO:0002297 epidermal appendage tumor skos:exactMatch UMLS:C0345988 semapv:UnspecifiedMatching MONDO:0002298 cutaneous glomangioma skos:exactMatch DOID:2435 skin glomangioma semapv:UnspecifiedMatching MONDO:0002298 cutaneous glomangioma skos:exactMatch NCIT:C6750 Skin Glomangioma semapv:UnspecifiedMatching MONDO:0002298 cutaneous glomangioma skos:exactMatch SCTID:403970001 semapv:UnspecifiedMatching MONDO:0002298 cutaneous glomangioma skos:exactMatch UMLS:C1275226 semapv:UnspecifiedMatching MONDO:0002299 glomangioma skos:exactMatch DOID:2436 glomangioma semapv:UnspecifiedMatching MONDO:0002299 glomangioma skos:exactMatch NCIT:C4222 Glomangioma semapv:UnspecifiedMatching MONDO:0002299 glomangioma skos:exactMatch UMLS:C0334421 semapv:UnspecifiedMatching MONDO:0002300 dermis tumor skos:exactMatch DOID:2438 dermis tumor semapv:UnspecifiedMatching MONDO:0002300 dermis tumor skos:exactMatch NCIT:C4475 Dermal Neoplasm semapv:UnspecifiedMatching MONDO:0002300 dermis tumor skos:exactMatch UMLS:C0346041 semapv:UnspecifiedMatching MONDO:0002301 frontal sinus squamous cell carcinoma skos:exactMatch DOID:2441 frontal sinus squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0002301 frontal sinus squamous cell carcinoma skos:exactMatch NCIT:C6067 Frontal Sinus Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002301 frontal sinus squamous cell carcinoma skos:exactMatch SCTID:707356001 semapv:UnspecifiedMatching MONDO:0002301 frontal sinus squamous cell carcinoma skos:exactMatch UMLS:C1333646 semapv:UnspecifiedMatching MONDO:0002303 central retinal vein occlusion skos:exactMatch DOID:2450 central retinal vein occlusion semapv:UnspecifiedMatching MONDO:0002303 central retinal vein occlusion skos:exactMatch NCIT:C118859 Central Retinal Vein Occlusion semapv:UnspecifiedMatching MONDO:0002303 central retinal vein occlusion skos:exactMatch Orphanet:411527 Central retinal vein occlusion semapv:UnspecifiedMatching MONDO:0002303 central retinal vein occlusion skos:exactMatch SCTID:68478007 semapv:UnspecifiedMatching MONDO:0002303 central retinal vein occlusion skos:exactMatch UMLS:C0154841 semapv:UnspecifiedMatching MONDO:0002304 protein S deficiency skos:exactMatch DOID:2451 protein S deficiency semapv:UnspecifiedMatching MONDO:0002304 protein S deficiency skos:exactMatch NCIT:C99026 Protein S Deficiency Disease semapv:UnspecifiedMatching MONDO:0002304 protein S deficiency skos:exactMatch SCTID:1563006 semapv:UnspecifiedMatching MONDO:0002304 protein S deficiency skos:exactMatch UMLS:C0242666 semapv:UnspecifiedMatching MONDO:0002304 protein S deficiency skos:exactMatch mesh:D018455 semapv:UnspecifiedMatching MONDO:0002305 thrombophilia skos:exactMatch DOID:2452 thrombophilia semapv:UnspecifiedMatching MONDO:0002305 thrombophilia skos:exactMatch NCIT:C84479 Thrombophilia semapv:UnspecifiedMatching MONDO:0002305 thrombophilia skos:exactMatch SCTID:234467004 semapv:UnspecifiedMatching MONDO:0002305 thrombophilia skos:exactMatch UMLS:C0398623 semapv:UnspecifiedMatching MONDO:0002305 thrombophilia skos:exactMatch mesh:D019851 semapv:UnspecifiedMatching MONDO:0002306 angular blepharoconjunctivitis skos:exactMatch DOID:2455 angular blepharoconjunctivitis semapv:UnspecifiedMatching MONDO:0002306 angular blepharoconjunctivitis skos:exactMatch SCTID:69397000 semapv:UnspecifiedMatching MONDO:0002306 angular blepharoconjunctivitis skos:exactMatch UMLS:C0155149 semapv:UnspecifiedMatching MONDO:0002307 blepharoconjunctivitis skos:exactMatch DOID:2456 blepharoconjunctivitis semapv:UnspecifiedMatching MONDO:0002307 blepharoconjunctivitis skos:exactMatch ICD10CM:H10.5 Blepharoconjunctivitis semapv:UnspecifiedMatching MONDO:0002307 blepharoconjunctivitis skos:exactMatch NCIT:C34430 Blepharoconjunctivitis semapv:UnspecifiedMatching MONDO:0002307 blepharoconjunctivitis skos:exactMatch SCTID:68659002 semapv:UnspecifiedMatching MONDO:0002307 blepharoconjunctivitis skos:exactMatch UMLS:C0005743 semapv:UnspecifiedMatching MONDO:0002308 giant papillary conjunctivitis skos:exactMatch DOID:2457 giant papillary conjunctivitis semapv:UnspecifiedMatching MONDO:0002308 giant papillary conjunctivitis skos:exactMatch NCIT:C34507 Giant Papillary Conjunctivitis semapv:UnspecifiedMatching MONDO:0002308 giant papillary conjunctivitis skos:exactMatch SCTID:231857004 semapv:UnspecifiedMatching MONDO:0002308 giant papillary conjunctivitis skos:exactMatch UMLS:C0009769 semapv:UnspecifiedMatching MONDO:0002309 papillary conjunctivitis skos:exactMatch DOID:2458 papillary conjunctivitis semapv:UnspecifiedMatching MONDO:0002309 papillary conjunctivitis skos:exactMatch NCIT:C35616 Papillary Conjunctivitis semapv:UnspecifiedMatching MONDO:0002309 papillary conjunctivitis skos:exactMatch SCTID:416878008 semapv:UnspecifiedMatching MONDO:0002309 papillary conjunctivitis skos:exactMatch UMLS:C0854165 semapv:UnspecifiedMatching MONDO:0002310 anterior dislocation of lens skos:exactMatch DOID:2460 anterior dislocation of lens semapv:UnspecifiedMatching MONDO:0002310 anterior dislocation of lens skos:exactMatch SCTID:37283009 semapv:UnspecifiedMatching MONDO:0002310 anterior dislocation of lens skos:exactMatch UMLS:C0155372 semapv:UnspecifiedMatching MONDO:0002311 retinal vascular disorder skos:exactMatch DOID:2462 retinal vascular disease semapv:UnspecifiedMatching MONDO:0002311 retinal vascular disorder skos:exactMatch NCIT:C35170 Retinal Vascular Disorder semapv:UnspecifiedMatching MONDO:0002311 retinal vascular disorder skos:exactMatch SCTID:57534004 semapv:UnspecifiedMatching MONDO:0002311 retinal vascular disorder skos:exactMatch UMLS:C0154833 semapv:UnspecifiedMatching MONDO:0002312 opportunistic mycosis skos:exactMatch DOID:2473 opportunistic mycosis semapv:UnspecifiedMatching MONDO:0002312 opportunistic mycosis skos:exactMatch SCTID:78999002 semapv:UnspecifiedMatching MONDO:0002312 opportunistic mycosis skos:exactMatch UMLS:C0029119 semapv:UnspecifiedMatching MONDO:0002313 vernal conjunctivitis skos:exactMatch DOID:2474 vernal conjunctivitis semapv:UnspecifiedMatching MONDO:0002313 vernal conjunctivitis skos:exactMatch ICD10CM:H10.44 Vernal conjunctivitis semapv:UnspecifiedMatching MONDO:0002313 vernal conjunctivitis skos:exactMatch NCIT:C34508 Vernal Conjunctivitis semapv:UnspecifiedMatching MONDO:0002313 vernal conjunctivitis skos:exactMatch SCTID:318316003 semapv:UnspecifiedMatching MONDO:0002313 vernal conjunctivitis skos:exactMatch UMLS:C0009773 semapv:UnspecifiedMatching MONDO:0002314 chronic conjunctivitis skos:exactMatch DOID:2475 chronic conjunctivitis semapv:UnspecifiedMatching MONDO:0002314 chronic conjunctivitis skos:exactMatch ICD10CM:H10.4 Chronic conjunctivitis semapv:UnspecifiedMatching MONDO:0002314 chronic conjunctivitis skos:exactMatch NCIT:C35197 Chronic Conjunctivitis semapv:UnspecifiedMatching MONDO:0002314 chronic conjunctivitis skos:exactMatch SCTID:73762008 semapv:UnspecifiedMatching MONDO:0002314 chronic conjunctivitis skos:exactMatch UMLS:C0155145 semapv:UnspecifiedMatching MONDO:0002316 motor peripheral neuropathy skos:exactMatch DOID:2477 motor peripheral neuropathy semapv:UnspecifiedMatching MONDO:0002316 motor peripheral neuropathy skos:exactMatch NCIT:C3500 Peripheral Motor Neuropathy semapv:UnspecifiedMatching MONDO:0002316 motor peripheral neuropathy skos:exactMatch SCTID:95663000 semapv:UnspecifiedMatching MONDO:0002317 central nervous system origin vertigo skos:exactMatch DOID:2479 central nervous system origin vertigo semapv:UnspecifiedMatching MONDO:0002317 central nervous system origin vertigo skos:exactMatch SCTID:38403006 semapv:UnspecifiedMatching MONDO:0002317 central nervous system origin vertigo skos:exactMatch UMLS:C0155503 semapv:UnspecifiedMatching MONDO:0002318 trachea leiomyoma skos:exactMatch DOID:248 trachea leiomyoma semapv:UnspecifiedMatching MONDO:0002318 trachea leiomyoma skos:exactMatch NCIT:C6049 Tracheal Leiomyoma semapv:UnspecifiedMatching MONDO:0002318 trachea leiomyoma skos:exactMatch SCTID:126703006 semapv:UnspecifiedMatching MONDO:0002318 trachea leiomyoma skos:exactMatch UMLS:C1336772 semapv:UnspecifiedMatching MONDO:0002319 phosphorus metabolism disease skos:exactMatch DOID:2485 phosphorus metabolism disease semapv:UnspecifiedMatching MONDO:0002319 phosphorus metabolism disease skos:exactMatch ICD10CM:E83.3 Disorders of phosphorus metabolism and phosphatases semapv:UnspecifiedMatching MONDO:0002319 phosphorus metabolism disease skos:exactMatch NCIT:C97095 Phosphorus Metabolic Disorder semapv:UnspecifiedMatching MONDO:0002319 phosphorus metabolism disease skos:exactMatch SCTID:87049008 semapv:UnspecifiedMatching MONDO:0002319 phosphorus metabolism disease skos:exactMatch UMLS:C0031707 semapv:UnspecifiedMatching MONDO:0002319 phosphorus metabolism disease skos:exactMatch mesh:D010760 semapv:UnspecifiedMatching MONDO:0002320 congenital nervous system disorder skos:exactMatch DOID:2490 congenital nervous system abnormality semapv:UnspecifiedMatching MONDO:0002320 congenital nervous system disorder skos:exactMatch NCIT:C97172 Congenital Nervous System Disorder semapv:UnspecifiedMatching MONDO:0002321 sensory peripheral neuropathy skos:exactMatch DOID:2491 sensory peripheral neuropathy semapv:UnspecifiedMatching MONDO:0002321 sensory peripheral neuropathy skos:exactMatch NCIT:C3501 Peripheral Sensory Neuropathy semapv:UnspecifiedMatching MONDO:0002321 sensory peripheral neuropathy skos:exactMatch SCTID:95662005 semapv:UnspecifiedMatching MONDO:0002321 sensory peripheral neuropathy skos:exactMatch UMLS:C0151313 semapv:UnspecifiedMatching MONDO:0002322 angiodysplasia skos:exactMatch DOID:2494 angiodysplasia semapv:UnspecifiedMatching MONDO:0002322 angiodysplasia skos:exactMatch SCTID:90858003 semapv:UnspecifiedMatching MONDO:0002322 angiodysplasia skos:exactMatch UMLS:C0085411 semapv:UnspecifiedMatching MONDO:0002322 angiodysplasia skos:exactMatch mesh:D016888 semapv:UnspecifiedMatching MONDO:0002323 cherry hemangioma skos:exactMatch DOID:2495 senile angioma semapv:UnspecifiedMatching MONDO:0002323 cherry hemangioma skos:exactMatch NCIT:C4390 Cherry Hemangioma semapv:UnspecifiedMatching MONDO:0002323 cherry hemangioma skos:exactMatch SCTID:5050001 semapv:UnspecifiedMatching MONDO:0002323 cherry hemangioma skos:exactMatch UMLS:C0343082 semapv:UnspecifiedMatching MONDO:0002324 obsolete enamel erosion skos:exactMatch DOID:2497 enamel erosion semapv:UnspecifiedMatching MONDO:0002325 tooth erosion, non-bacterial skos:exactMatch DOID:2498 tooth erosion semapv:UnspecifiedMatching MONDO:0002325 tooth erosion, non-bacterial skos:exactMatch SCTID:82212003 semapv:UnspecifiedMatching MONDO:0002325 tooth erosion, non-bacterial skos:exactMatch UMLS:C0040436 semapv:UnspecifiedMatching MONDO:0002325 tooth erosion, non-bacterial skos:exactMatch mesh:D014077 semapv:UnspecifiedMatching MONDO:0002326 alcohol-induced mental disorder skos:exactMatch DOID:251 alcohol-induced mental disorder semapv:UnspecifiedMatching MONDO:0002327 intracranial cavernous angioma skos:exactMatch DOID:2516 intracranial cavernous angioma semapv:UnspecifiedMatching MONDO:0002327 intracranial cavernous angioma skos:exactMatch NCIT:C5432 Intracranial Cavernous Hemangioma semapv:UnspecifiedMatching MONDO:0002327 intracranial cavernous angioma skos:exactMatch SCTID:445513004 semapv:UnspecifiedMatching MONDO:0002327 intracranial cavernous angioma skos:exactMatch UMLS:C1334237 semapv:UnspecifiedMatching MONDO:0002328 intracranial hemangioma skos:exactMatch DOID:2517 intracranial structure hemangioma semapv:UnspecifiedMatching MONDO:0002328 intracranial hemangioma skos:exactMatch ICD10CM:D18.02 Hemangioma of intracranial structures semapv:UnspecifiedMatching MONDO:0002328 intracranial hemangioma skos:exactMatch NCIT:C3633 Intracranial Hemangioma semapv:UnspecifiedMatching MONDO:0002328 intracranial hemangioma skos:exactMatch SCTID:93468003 semapv:UnspecifiedMatching MONDO:0002328 intracranial hemangioma skos:exactMatch UMLS:C0154050 semapv:UnspecifiedMatching MONDO:0002329 testicular disorder skos:exactMatch DOID:2519 testicular disease semapv:UnspecifiedMatching MONDO:0002329 testicular disorder skos:exactMatch NCIT:C26890 Testicular Disorder semapv:UnspecifiedMatching MONDO:0002329 testicular disorder skos:exactMatch SCTID:64910008 semapv:UnspecifiedMatching MONDO:0002329 testicular disorder skos:exactMatch UMLS:C0039584 semapv:UnspecifiedMatching MONDO:0002329 testicular disorder skos:exactMatch mesh:D013733 semapv:UnspecifiedMatching MONDO:0002330 alcoholic psychosis skos:exactMatch DOID:252 alcoholic psychosis semapv:UnspecifiedMatching MONDO:0002330 alcoholic psychosis skos:exactMatch SCTID:42344001 semapv:UnspecifiedMatching MONDO:0002330 alcoholic psychosis skos:exactMatch mesh:D011604 semapv:UnspecifiedMatching MONDO:0002331 nephrosis skos:exactMatch DOID:2527 nephrosis semapv:UnspecifiedMatching MONDO:0002331 nephrosis skos:exactMatch UMLS:C0027720 semapv:UnspecifiedMatching MONDO:0002331 nephrosis skos:exactMatch mesh:D009401 semapv:UnspecifiedMatching MONDO:0002332 splenic disorder skos:exactMatch DOID:2529 splenic disease semapv:UnspecifiedMatching MONDO:0002332 splenic disorder skos:exactMatch ICD10CM:D73 Diseases of spleen semapv:UnspecifiedMatching MONDO:0002332 splenic disorder skos:exactMatch NCIT:C35823 Splenic Disorder semapv:UnspecifiedMatching MONDO:0002332 splenic disorder skos:exactMatch SCTID:51244008 semapv:UnspecifiedMatching MONDO:0002332 splenic disorder skos:exactMatch UMLS:C0037997 semapv:UnspecifiedMatching MONDO:0002332 splenic disorder skos:exactMatch mesh:D013158 semapv:UnspecifiedMatching MONDO:0002333 splenic abscess skos:exactMatch DOID:2530 splenic abscess semapv:UnspecifiedMatching MONDO:0002333 splenic abscess skos:exactMatch ICD10CM:D73.3 Abscess of spleen semapv:UnspecifiedMatching MONDO:0002333 splenic abscess skos:exactMatch NCIT:C35347 Splenic Abscess semapv:UnspecifiedMatching MONDO:0002333 splenic abscess skos:exactMatch SCTID:82053000 semapv:UnspecifiedMatching MONDO:0002333 splenic abscess skos:exactMatch UMLS:C0272412 semapv:UnspecifiedMatching MONDO:0002334 hematopoietic and lymphoid system neoplasm skos:exactMatch DOID:2531 hematologic cancer semapv:UnspecifiedMatching MONDO:0002334 hematopoietic and lymphoid system neoplasm skos:exactMatch NCIT:C35813 Hematopoietic and Lymphoid System Neoplasm semapv:UnspecifiedMatching MONDO:0002334 hematopoietic and lymphoid system neoplasm skos:exactMatch SCTID:129154003 semapv:UnspecifiedMatching MONDO:0002334 hematopoietic and lymphoid system neoplasm skos:exactMatch UMLS:C1512393 semapv:UnspecifiedMatching MONDO:0002334 hematopoietic and lymphoid system neoplasm skos:exactMatch mesh:D019337 semapv:UnspecifiedMatching MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:exactMatch DOID:2536 chronic inflammatory demyelinating polyneuritis semapv:UnspecifiedMatching MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:exactMatch ICD10CM:G61.81 Chronic inflammatory demyelinating polyneuritis semapv:UnspecifiedMatching MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:exactMatch NCIT:C84636 Chronic Inflammatory Demyelinating Polyneuropathy semapv:UnspecifiedMatching MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:exactMatch SCTID:444728005 semapv:UnspecifiedMatching MONDO:0002336 obsolete inflammatory and toxic neuropathy skos:exactMatch DOID:2537 inflammatory and toxic neuropathy semapv:UnspecifiedMatching MONDO:0002336 obsolete inflammatory and toxic neuropathy skos:exactMatch SCTID:267601009 semapv:UnspecifiedMatching MONDO:0002337 intra-abdominal hemangioma skos:exactMatch DOID:254 hemangioma of intra-abdominal structure semapv:UnspecifiedMatching MONDO:0002337 intra-abdominal hemangioma skos:exactMatch ICD10CM:D18.03 Hemangioma of intra-abdominal structures semapv:UnspecifiedMatching MONDO:0002337 intra-abdominal hemangioma skos:exactMatch NCIT:C3635 Intra-Abdominal Hemangioma semapv:UnspecifiedMatching MONDO:0002337 intra-abdominal hemangioma skos:exactMatch SCTID:189197001 semapv:UnspecifiedMatching MONDO:0002337 intra-abdominal hemangioma skos:exactMatch UMLS:C0154052 semapv:UnspecifiedMatching MONDO:0002338 extratemporal epilepsy skos:exactMatch DOID:2544 extratemporal epilepsy semapv:UnspecifiedMatching MONDO:0002338 extratemporal epilepsy skos:exactMatch NCIT:C7760 Extratemporal Epilepsy semapv:UnspecifiedMatching MONDO:0002338 extratemporal epilepsy skos:exactMatch SCTID:111498005 semapv:UnspecifiedMatching MONDO:0002338 extratemporal epilepsy skos:exactMatch UMLS:C0270849 semapv:UnspecifiedMatching MONDO:0002340 tactile epilepsy skos:exactMatch DOID:2550 tactile epilepsy semapv:UnspecifiedMatching MONDO:0002340 tactile epilepsy skos:exactMatch NCIT:C4687 Tactile Epilepsy semapv:UnspecifiedMatching MONDO:0002340 tactile epilepsy skos:exactMatch SCTID:230449001 semapv:UnspecifiedMatching MONDO:0002340 tactile epilepsy skos:exactMatch UMLS:C0393724 semapv:UnspecifiedMatching MONDO:0002341 granulomatous angiitis skos:exactMatch DOID:2555 granulomatous angiitis semapv:UnspecifiedMatching MONDO:0002341 granulomatous angiitis skos:exactMatch NCIT:C34653 Granulomatous Arteritis semapv:UnspecifiedMatching MONDO:0002341 granulomatous angiitis skos:exactMatch UMLS:C0018202 semapv:UnspecifiedMatching MONDO:0002342 chondromalacia skos:exactMatch DOID:2557 chondromalacia semapv:UnspecifiedMatching MONDO:0002342 chondromalacia skos:exactMatch ICD10CM:M94.2 Chondromalacia semapv:UnspecifiedMatching MONDO:0002342 chondromalacia skos:exactMatch SCTID:63198006 semapv:UnspecifiedMatching MONDO:0002342 chondromalacia skos:exactMatch UMLS:C0085700 semapv:UnspecifiedMatching MONDO:0002343 splenic hemangioma skos:exactMatch DOID:256 hemangioma of spleen semapv:UnspecifiedMatching MONDO:0002343 splenic hemangioma skos:exactMatch NCIT:C8541 Splenic Hemangioma semapv:UnspecifiedMatching MONDO:0002343 splenic hemangioma skos:exactMatch SCTID:93472004 semapv:UnspecifiedMatching MONDO:0002343 splenic hemangioma skos:exactMatch UMLS:C0685201 semapv:UnspecifiedMatching MONDO:0002345 cervicitis skos:exactMatch DOID:2568 cervicitis semapv:UnspecifiedMatching MONDO:0002345 cervicitis skos:exactMatch NCIT:C26716 Cervicitis semapv:UnspecifiedMatching MONDO:0002345 cervicitis skos:exactMatch SCTID:37610005 semapv:UnspecifiedMatching MONDO:0002345 cervicitis skos:exactMatch mesh:D002575 semapv:UnspecifiedMatching MONDO:0002347 barbiturate dependence skos:exactMatch DOID:2575 barbiturate dependence semapv:UnspecifiedMatching MONDO:0002347 barbiturate dependence skos:exactMatch SCTID:231472009 semapv:UnspecifiedMatching MONDO:0002350 familial nephrotic syndrome skos:exactMatch DOID:2590 familial nephrotic syndrome semapv:UnspecifiedMatching MONDO:0002350 familial nephrotic syndrome skos:exactMatch NCIT:C35337 Congenital Nephrotic Syndrome semapv:UnspecifiedMatching MONDO:0002350 familial nephrotic syndrome skos:exactMatch OMIMPS:256300 semapv:UnspecifiedMatching MONDO:0002350 familial nephrotic syndrome skos:exactMatch SCTID:48796009 semapv:UnspecifiedMatching MONDO:0002350 familial nephrotic syndrome skos:exactMatch UMLS:C3501848 semapv:UnspecifiedMatching MONDO:0002351 glottis cancer skos:exactMatch DOID:2595 glottis cancer semapv:UnspecifiedMatching MONDO:0002351 glottis cancer skos:exactMatch NCIT:C3544 Malignant Glottis Neoplasm semapv:UnspecifiedMatching MONDO:0002351 glottis cancer skos:exactMatch SCTID:187841006 semapv:UnspecifiedMatching MONDO:0002351 glottis cancer skos:exactMatch UMLS:C0153483 semapv:UnspecifiedMatching MONDO:0002352 larynx cancer skos:exactMatch DOID:2596 larynx cancer semapv:UnspecifiedMatching MONDO:0002352 larynx cancer skos:exactMatch NCIT:C7484 Malignant Laryngeal Neoplasm semapv:UnspecifiedMatching MONDO:0002352 larynx cancer skos:exactMatch SCTID:363429002 semapv:UnspecifiedMatching MONDO:0002352 larynx cancer skos:exactMatch UMLS:C0007107 semapv:UnspecifiedMatching MONDO:0002353 glottis neoplasm skos:exactMatch DOID:2597 glottis neoplasm semapv:UnspecifiedMatching MONDO:0002353 glottis neoplasm skos:exactMatch NCIT:C4425 Glottis Neoplasm semapv:UnspecifiedMatching MONDO:0002353 glottis neoplasm skos:exactMatch SCTID:126693009 semapv:UnspecifiedMatching MONDO:0002353 glottis neoplasm skos:exactMatch UMLS:C0345713 semapv:UnspecifiedMatching MONDO:0002354 benign laryngeal neoplasm skos:exactMatch DOID:2598 laryngeal benign neoplasm semapv:UnspecifiedMatching MONDO:0002354 benign laryngeal neoplasm skos:exactMatch NCIT:C3601 Benign Laryngeal Neoplasm semapv:UnspecifiedMatching MONDO:0002354 benign laryngeal neoplasm skos:exactMatch SCTID:92175003 semapv:UnspecifiedMatching MONDO:0002354 benign laryngeal neoplasm skos:exactMatch UMLS:C0153952 semapv:UnspecifiedMatching MONDO:0002355 glottis carcinoma skos:exactMatch DOID:2599 glottis carcinoma semapv:UnspecifiedMatching MONDO:0002355 glottis carcinoma skos:exactMatch NCIT:C4923 Glottis Carcinoma semapv:UnspecifiedMatching MONDO:0002355 glottis carcinoma skos:exactMatch SCTID:372103002 semapv:UnspecifiedMatching MONDO:0002355 glottis carcinoma skos:exactMatch UMLS:C0740083 semapv:UnspecifiedMatching MONDO:0002356 pancreas disorder skos:exactMatch DOID:26 pancreas disease semapv:UnspecifiedMatching MONDO:0002356 pancreas disorder skos:exactMatch NCIT:C26842 Pancreatic Disorder semapv:UnspecifiedMatching MONDO:0002356 pancreas disorder skos:exactMatch SCTID:3855007 semapv:UnspecifiedMatching MONDO:0002356 pancreas disorder skos:exactMatch mesh:D010182 semapv:UnspecifiedMatching MONDO:0002357 hepatic flexure cancer skos:exactMatch DOID:260 hepatic flexure cancer semapv:UnspecifiedMatching MONDO:0002357 hepatic flexure cancer skos:exactMatch SCTID:363407001 semapv:UnspecifiedMatching MONDO:0002357 hepatic flexure cancer skos:exactMatch UMLS:C0153433 semapv:UnspecifiedMatching MONDO:0002358 laryngeal carcinoma skos:exactMatch DOID:2600 laryngeal carcinoma semapv:UnspecifiedMatching MONDO:0002358 laryngeal carcinoma skos:exactMatch NCIT:C4855 Laryngeal Carcinoma semapv:UnspecifiedMatching MONDO:0002358 laryngeal carcinoma skos:exactMatch SCTID:276975007 semapv:UnspecifiedMatching MONDO:0002358 laryngeal carcinoma skos:exactMatch UMLS:C0595989 semapv:UnspecifiedMatching MONDO:0002359 periosteal chondroma skos:exactMatch DOID:2601 juxtacortical chondroma semapv:UnspecifiedMatching MONDO:0002359 periosteal chondroma skos:exactMatch NCIT:C4302 Periosteal Chondroma semapv:UnspecifiedMatching MONDO:0002359 periosteal chondroma skos:exactMatch UMLS:C0334548 semapv:UnspecifiedMatching MONDO:0002360 chondroma skos:exactMatch DOID:2602 chondroma semapv:UnspecifiedMatching MONDO:0002360 chondroma skos:exactMatch NCIT:C53459 Chondroma semapv:UnspecifiedMatching MONDO:0002360 chondroma skos:exactMatch UMLS:C0936248 semapv:UnspecifiedMatching MONDO:0002360 chondroma skos:exactMatch mesh:D002812 semapv:UnspecifiedMatching MONDO:0002361 transverse colon cancer skos:exactMatch DOID:261 transverse colon cancer semapv:UnspecifiedMatching MONDO:0002361 transverse colon cancer skos:exactMatch SCTID:363408006 semapv:UnspecifiedMatching MONDO:0002361 transverse colon cancer skos:exactMatch UMLS:C0153434 semapv:UnspecifiedMatching MONDO:0002362 serous surface papilloma skos:exactMatch DOID:2614 serous surface papilloma semapv:UnspecifiedMatching MONDO:0002362 serous surface papilloma skos:exactMatch NCIT:C4181 Serous Surface Papilloma semapv:UnspecifiedMatching MONDO:0002362 serous surface papilloma skos:exactMatch UMLS:C0334360 semapv:UnspecifiedMatching MONDO:0002363 papilloma skos:exactMatch DOID:2615 papilloma semapv:UnspecifiedMatching MONDO:0002363 papilloma skos:exactMatch NCIT:C7440 Papilloma semapv:UnspecifiedMatching MONDO:0002363 papilloma skos:exactMatch SCTID:711329002 semapv:UnspecifiedMatching MONDO:0002363 papilloma skos:exactMatch UMLS:C0030354 semapv:UnspecifiedMatching MONDO:0002363 papilloma skos:exactMatch mesh:D010212 semapv:UnspecifiedMatching MONDO:0002365 kidney hemangiopericytoma skos:exactMatch DOID:262 kidney hemangiopericytoma semapv:UnspecifiedMatching MONDO:0002365 kidney hemangiopericytoma skos:exactMatch NCIT:C4527 Kidney Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0002365 kidney hemangiopericytoma skos:exactMatch SCTID:254923001 semapv:UnspecifiedMatching MONDO:0002365 kidney hemangiopericytoma skos:exactMatch UMLS:C0346256 semapv:UnspecifiedMatching MONDO:0002366 autonomic nervous system neoplasm skos:exactMatch DOID:2621 autonomic nervous system neoplasm semapv:UnspecifiedMatching MONDO:0002366 autonomic nervous system neoplasm skos:exactMatch NCIT:C5112 Autonomic Nervous System Neoplasm semapv:UnspecifiedMatching MONDO:0002366 autonomic nervous system neoplasm skos:exactMatch UMLS:C1332356 semapv:UnspecifiedMatching MONDO:0002367 kidney cancer skos:exactMatch DOID:263 kidney cancer semapv:UnspecifiedMatching MONDO:0002367 kidney cancer skos:exactMatch NCIT:C7548 Malignant Kidney Neoplasm semapv:UnspecifiedMatching MONDO:0002367 kidney cancer skos:exactMatch SCTID:363518003 semapv:UnspecifiedMatching MONDO:0002367 kidney cancer skos:exactMatch UMLS:C0740457 semapv:UnspecifiedMatching MONDO:0002367 kidney cancer skos:exactMatch mesh:D007680 semapv:UnspecifiedMatching MONDO:0002368 papillary serous cystadenocarcinoma skos:exactMatch DOID:2632 papillary serous adenocarcinoma semapv:UnspecifiedMatching MONDO:0002368 papillary serous cystadenocarcinoma skos:exactMatch NCIT:C8377 Papillary Serous Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002368 papillary serous cystadenocarcinoma skos:exactMatch SCTID:716649003 semapv:UnspecifiedMatching MONDO:0002369 cystadenoma skos:exactMatch DOID:2634 cystadenoma semapv:UnspecifiedMatching MONDO:0002369 cystadenoma skos:exactMatch NCIT:C2972 Cystadenoma semapv:UnspecifiedMatching MONDO:0002369 cystadenoma skos:exactMatch UMLS:C0010633 semapv:UnspecifiedMatching MONDO:0002369 cystadenoma skos:exactMatch mesh:D003537 semapv:UnspecifiedMatching MONDO:0002370 ovarian Brenner tumor skos:exactMatch DOID:2636 ovarian Brenner tumor semapv:UnspecifiedMatching MONDO:0002370 ovarian Brenner tumor skos:exactMatch NCIT:C3872 Ovarian Brenner Tumor semapv:UnspecifiedMatching MONDO:0002370 ovarian Brenner tumor skos:exactMatch SCTID:254859006 semapv:UnspecifiedMatching MONDO:0002371 breast pericanalicular fibroadenoma skos:exactMatch DOID:2639 breast pericanalicular fibroadenoma semapv:UnspecifiedMatching MONDO:0002371 breast pericanalicular fibroadenoma skos:exactMatch NCIT:C4272 Breast Pericanalicular Fibroadenoma semapv:UnspecifiedMatching MONDO:0002371 breast pericanalicular fibroadenoma skos:exactMatch UMLS:C0334497 semapv:UnspecifiedMatching MONDO:0002372 ovarian monodermal and highly specialized teratoma skos:exactMatch DOID:2641 ovarian germ cell monodermal and highly specialized teratoma semapv:UnspecifiedMatching MONDO:0002372 ovarian monodermal and highly specialized teratoma skos:exactMatch NCIT:C8113 Ovarian Monodermal and Highly Specialized Teratoma semapv:UnspecifiedMatching MONDO:0002372 ovarian monodermal and highly specialized teratoma skos:exactMatch UMLS:C0280134 semapv:UnspecifiedMatching MONDO:0002373 benign mesothelioma skos:exactMatch DOID:2645 benign mesothelioma semapv:UnspecifiedMatching MONDO:0002373 benign mesothelioma skos:exactMatch SCTID:254825007 semapv:UnspecifiedMatching MONDO:0002373 benign mesothelioma skos:exactMatch UMLS:C0348424 semapv:UnspecifiedMatching MONDO:0002375 sebaceous adenoma skos:exactMatch DOID:2648 sebaceous adenoma semapv:UnspecifiedMatching MONDO:0002375 sebaceous adenoma skos:exactMatch NCIT:C4174 Sebaceous Adenoma semapv:UnspecifiedMatching MONDO:0002375 sebaceous adenoma skos:exactMatch UMLS:C1368816 semapv:UnspecifiedMatching MONDO:0002376 spleen angiosarcoma skos:exactMatch DOID:265 spleen angiosarcoma semapv:UnspecifiedMatching MONDO:0002376 spleen angiosarcoma skos:exactMatch NCIT:C4564 Splenic Angiosarcoma semapv:UnspecifiedMatching MONDO:0002376 spleen angiosarcoma skos:exactMatch SCTID:187821001 semapv:UnspecifiedMatching MONDO:0002376 spleen angiosarcoma skos:exactMatch UMLS:C0346424 semapv:UnspecifiedMatching MONDO:0002377 breast intracanalicular fibroadenoma skos:exactMatch DOID:2656 breast intracanalicular fibroadenoma semapv:UnspecifiedMatching MONDO:0002377 breast intracanalicular fibroadenoma skos:exactMatch NCIT:C4271 Breast Intracanalicular Fibroadenoma semapv:UnspecifiedMatching MONDO:0002377 breast intracanalicular fibroadenoma skos:exactMatch UMLS:C0334496 semapv:UnspecifiedMatching MONDO:0002378 dermoid cyst skos:exactMatch DOID:2658 dermoid cyst semapv:UnspecifiedMatching MONDO:0002378 dermoid cyst skos:exactMatch NCIT:C9011 Dermoid Cyst semapv:UnspecifiedMatching MONDO:0002378 dermoid cyst skos:exactMatch SCTID:441459009 semapv:UnspecifiedMatching MONDO:0002378 dermoid cyst skos:exactMatch UMLS:C0011649 semapv:UnspecifiedMatching MONDO:0002378 dermoid cyst skos:exactMatch mesh:D003884 semapv:UnspecifiedMatching MONDO:0002379 cystic teratoma skos:exactMatch DOID:2660 cystic teratoma semapv:UnspecifiedMatching MONDO:0002379 cystic teratoma skos:exactMatch NCIT:C9014 Cystic Teratoma semapv:UnspecifiedMatching MONDO:0002379 cystic teratoma skos:exactMatch UMLS:C1368903 semapv:UnspecifiedMatching MONDO:0002380 myoepithelial tumor skos:exactMatch DOID:2661 myoepithelioma semapv:UnspecifiedMatching MONDO:0002380 myoepithelial tumor skos:exactMatch NCIT:C40392 Myoepithelial Tumor semapv:UnspecifiedMatching MONDO:0002380 myoepithelial tumor skos:exactMatch UMLS:C0027070 semapv:UnspecifiedMatching MONDO:0002380 myoepithelial tumor skos:exactMatch mesh:D009208 semapv:UnspecifiedMatching MONDO:0002381 sweat gland neoplasm skos:exactMatch DOID:2664 sweat gland benign neoplasm semapv:UnspecifiedMatching MONDO:0002381 sweat gland neoplasm skos:exactMatch NCIT:C3398 Sweat Gland Neoplasm semapv:UnspecifiedMatching MONDO:0002381 sweat gland neoplasm skos:exactMatch SCTID:126490003 semapv:UnspecifiedMatching MONDO:0002381 sweat gland neoplasm skos:exactMatch UMLS:C0038987 semapv:UnspecifiedMatching MONDO:0002381 sweat gland neoplasm skos:exactMatch mesh:D013544 semapv:UnspecifiedMatching MONDO:0002382 benign mesenchymoma skos:exactMatch NCIT:C4267 Benign Mesenchymoma semapv:UnspecifiedMatching MONDO:0002382 benign mesenchymoma skos:exactMatch UMLS:C0334491 semapv:UnspecifiedMatching MONDO:0002383 Pacinian tumor skos:exactMatch DOID:2669 Pacinian tumor semapv:UnspecifiedMatching MONDO:0002383 Pacinian tumor skos:exactMatch NCIT:C4328 Pacinian Neurofibroma semapv:UnspecifiedMatching MONDO:0002383 Pacinian tumor skos:exactMatch SCTID:404033003 semapv:UnspecifiedMatching MONDO:0002383 Pacinian tumor skos:exactMatch UMLS:C0334599 semapv:UnspecifiedMatching MONDO:0002385 benign cystic nephroma skos:exactMatch DOID:2673 adult cystic nephroma semapv:UnspecifiedMatching MONDO:0002385 benign cystic nephroma skos:exactMatch NCIT:C7504 Adult Cystic Nephroma semapv:UnspecifiedMatching MONDO:0002385 benign cystic nephroma skos:exactMatch UMLS:C1266138 semapv:UnspecifiedMatching MONDO:0002386 mixed epithelial stromal tumor of the kidney skos:exactMatch NCIT:C37263 Kidney Mixed Epithelial and Stromal Tumor semapv:UnspecifiedMatching MONDO:0002386 mixed epithelial stromal tumor of the kidney skos:exactMatch UMLS:C1272677 semapv:UnspecifiedMatching MONDO:0002387 liver angiosarcoma skos:exactMatch DOID:268 liver angiosarcoma semapv:UnspecifiedMatching MONDO:0002387 liver angiosarcoma skos:exactMatch ICD10CM:C22.3 Angiosarcoma of liver semapv:UnspecifiedMatching MONDO:0002387 liver angiosarcoma skos:exactMatch NCIT:C4438 Liver Angiosarcoma semapv:UnspecifiedMatching MONDO:0002387 liver angiosarcoma skos:exactMatch SCTID:109844006 semapv:UnspecifiedMatching MONDO:0002387 liver angiosarcoma skos:exactMatch UMLS:C0345907 semapv:UnspecifiedMatching MONDO:0002388 intracystic papillary adenoma skos:exactMatch DOID:2682 intracystic papillary adenoma semapv:UnspecifiedMatching MONDO:0002388 intracystic papillary adenoma skos:exactMatch UMLS:C0334374 semapv:UnspecifiedMatching MONDO:0002395 renal adenoma skos:exactMatch DOID:2697 renal adenoma semapv:UnspecifiedMatching MONDO:0002395 renal adenoma skos:exactMatch NCIT:C8383 Kidney Adenoma semapv:UnspecifiedMatching MONDO:0002395 renal adenoma skos:exactMatch UMLS:C0334684 semapv:UnspecifiedMatching MONDO:0002396 nephrogenic adenofibroma skos:exactMatch DOID:2698 nephrogenic adenofibroma semapv:UnspecifiedMatching MONDO:0002396 nephrogenic adenofibroma skos:exactMatch NCIT:C39812 Metanephric Adenofibroma semapv:UnspecifiedMatching MONDO:0002396 nephrogenic adenofibroma skos:exactMatch UMLS:C1266141 semapv:UnspecifiedMatching MONDO:0002397 liver sarcoma skos:exactMatch DOID:270 liver sarcoma semapv:UnspecifiedMatching MONDO:0002397 liver sarcoma skos:exactMatch NCIT:C4437 Liver Sarcoma semapv:UnspecifiedMatching MONDO:0002397 liver sarcoma skos:exactMatch SCTID:254601002 semapv:UnspecifiedMatching MONDO:0002397 liver sarcoma skos:exactMatch UMLS:C0345906 semapv:UnspecifiedMatching MONDO:0002398 mucinous adenofibroma skos:exactMatch DOID:2700 mucinous adenofibroma semapv:UnspecifiedMatching MONDO:0002398 mucinous adenofibroma skos:exactMatch NCIT:C8978 Mucinous Adenofibroma semapv:UnspecifiedMatching MONDO:0002398 mucinous adenofibroma skos:exactMatch UMLS:C0334499 semapv:UnspecifiedMatching MONDO:0002399 tenosynovial giant cell tumor, localized type skos:exactMatch DOID:2701 nodular tenosynovitis semapv:UnspecifiedMatching MONDO:0002399 tenosynovial giant cell tumor, localized type skos:exactMatch NCIT:C6532 Tenosynovial Giant Cell Tumor, Localized Type semapv:UnspecifiedMatching MONDO:0002399 tenosynovial giant cell tumor, localized type skos:exactMatch SCTID:95413004 semapv:UnspecifiedMatching MONDO:0002399 tenosynovial giant cell tumor, localized type skos:exactMatch UMLS:C0588125 semapv:UnspecifiedMatching MONDO:0002400 synovitis skos:exactMatch DOID:2703 synovitis semapv:UnspecifiedMatching MONDO:0002400 synovitis skos:exactMatch NCIT:C50766 Synovitis semapv:UnspecifiedMatching MONDO:0002400 synovitis skos:exactMatch SCTID:416209007 semapv:UnspecifiedMatching MONDO:0002400 synovitis skos:exactMatch mesh:D013585 semapv:UnspecifiedMatching MONDO:0002401 malignant tenosynovial giant cell tumor skos:exactMatch DOID:2704 malignant giant cell tumor of the tendon sheath semapv:UnspecifiedMatching MONDO:0002401 malignant tenosynovial giant cell tumor skos:exactMatch NCIT:C6535 Malignant Tenosynovial Giant Cell Tumor semapv:UnspecifiedMatching MONDO:0002401 malignant tenosynovial giant cell tumor skos:exactMatch UMLS:C1266168 semapv:UnspecifiedMatching MONDO:0002402 malignant giant cell tumor skos:exactMatch DOID:2705 malignant giant cell tumor semapv:UnspecifiedMatching MONDO:0002402 malignant giant cell tumor skos:exactMatch NCIT:C4090 Malignant Giant Cell Neoplasm semapv:UnspecifiedMatching MONDO:0002402 malignant giant cell tumor skos:exactMatch UMLS:C0334229 semapv:UnspecifiedMatching MONDO:0002403 synovium cancer skos:exactMatch DOID:2706 synovium cancer semapv:UnspecifiedMatching MONDO:0002403 synovium cancer skos:exactMatch NCIT:C6531 Malignant Synovial Neoplasm semapv:UnspecifiedMatching MONDO:0002403 synovium cancer skos:exactMatch UMLS:C1334624 semapv:UnspecifiedMatching MONDO:0002404 liver hemangioma skos:exactMatch DOID:271 hemangioma of liver semapv:UnspecifiedMatching MONDO:0002404 liver hemangioma skos:exactMatch NCIT:C3869 Liver Hemangioma semapv:UnspecifiedMatching MONDO:0002404 liver hemangioma skos:exactMatch SCTID:93469006 semapv:UnspecifiedMatching MONDO:0002404 liver hemangioma skos:exactMatch UMLS:C0238246 semapv:UnspecifiedMatching MONDO:0002405 hepatic vascular disorder skos:exactMatch DOID:272 hepatic vascular disease semapv:UnspecifiedMatching MONDO:0002405 hepatic vascular disorder skos:exactMatch NCIT:C35442 Liver Vascular Disorder semapv:UnspecifiedMatching MONDO:0002405 hepatic vascular disorder skos:exactMatch SCTID:235878005 semapv:UnspecifiedMatching MONDO:0002405 hepatic vascular disorder skos:exactMatch UMLS:C0400923 semapv:UnspecifiedMatching MONDO:0002406 dermatitis skos:exactMatch DOID:2723 dermatitis semapv:UnspecifiedMatching MONDO:0002406 dermatitis skos:exactMatch NCIT:C2983 Dermatitis semapv:UnspecifiedMatching MONDO:0002406 dermatitis skos:exactMatch SCTID:43116000 semapv:UnspecifiedMatching MONDO:0002406 dermatitis skos:exactMatch UMLS:C3875321 semapv:UnspecifiedMatching MONDO:0002406 dermatitis skos:exactMatch mesh:D003872 semapv:UnspecifiedMatching MONDO:0002407 capillary hemangioma skos:exactMatch DOID:2725 capillary hemangioma semapv:UnspecifiedMatching MONDO:0002407 capillary hemangioma skos:exactMatch NCIT:C7457 Capillary Hemangioma semapv:UnspecifiedMatching MONDO:0002407 capillary hemangioma skos:exactMatch SCTID:56975005 semapv:UnspecifiedMatching MONDO:0002407 capillary hemangioma skos:exactMatch UMLS:C0206733 semapv:UnspecifiedMatching MONDO:0002407 capillary hemangioma skos:exactMatch mesh:D018324 semapv:UnspecifiedMatching MONDO:0002408 hereditary hyperbilirubinemia skos:exactMatch DOID:2741 bilirubin metabolic disorder semapv:UnspecifiedMatching MONDO:0002408 hereditary hyperbilirubinemia skos:exactMatch NCIT:C84761 Hereditary Hyperbilirubinemia semapv:UnspecifiedMatching MONDO:0002408 hereditary hyperbilirubinemia skos:exactMatch OMIMPS:237450 semapv:UnspecifiedMatching MONDO:0002408 hereditary hyperbilirubinemia skos:exactMatch UMLS:C0020435 semapv:UnspecifiedMatching MONDO:0002408 hereditary hyperbilirubinemia skos:exactMatch mesh:D006933 semapv:UnspecifiedMatching MONDO:0002409 auditory system disorder skos:exactMatch DOID:2742 auditory system disease semapv:UnspecifiedMatching MONDO:0002409 auditory system disorder skos:exactMatch ICD10CM:H60-H95 Diseases of the ear and mastoid process (H60-H95) semapv:UnspecifiedMatching MONDO:0002409 auditory system disorder skos:exactMatch SCTID:362966006 semapv:UnspecifiedMatching MONDO:0002410 pyeloureteritis cystica skos:exactMatch DOID:2743 pyeloureteritis cystica semapv:UnspecifiedMatching MONDO:0002410 pyeloureteritis cystica skos:exactMatch ICD10CM:N28.85 Pyeloureteritis cystica semapv:UnspecifiedMatching MONDO:0002410 pyeloureteritis cystica skos:exactMatch SCTID:37779008 semapv:UnspecifiedMatching MONDO:0002410 pyeloureteritis cystica skos:exactMatch UMLS:C0156254 semapv:UnspecifiedMatching MONDO:0002411 narcissistic personality disorder skos:exactMatch DOID:2745 narcissistic personality disorder semapv:UnspecifiedMatching MONDO:0002411 narcissistic personality disorder skos:exactMatch ICD10CM:F60.81 Narcissistic personality disorder semapv:UnspecifiedMatching MONDO:0002411 narcissistic personality disorder skos:exactMatch NCIT:C92635 Narcissistic Personality Disorder semapv:UnspecifiedMatching MONDO:0002411 narcissistic personality disorder skos:exactMatch SCTID:80711002 semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch DOID:0050728 glycogen metabolism disorder semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch DOID:2747 glycogen storage disease semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch ICD10CM:E74.0 Glycogen storage disease semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch NCIT:C61272 Glycogen Storage Disease semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch OMIMPS:232200 semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch Orphanet:79201 Glycogen storage disease semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch SCTID:29633007 semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch UMLS:C0017919 semapv:UnspecifiedMatching MONDO:0002412 disorder of glycogen metabolism skos:exactMatch mesh:D006008 semapv:UnspecifiedMatching MONDO:0002413 glycogen storage disease I skos:exactMatch DOID:0081329 glycogen storage disease I semapv:UnspecifiedMatching MONDO:0002413 glycogen storage disease I skos:exactMatch ICD10CM:E74.01 von Gierke disease semapv:UnspecifiedMatching MONDO:0002413 glycogen storage disease I skos:exactMatch NCIT:C84733 Glycogen Storage Disease Type I semapv:UnspecifiedMatching MONDO:0002413 glycogen storage disease I skos:exactMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:UnspecifiedMatching MONDO:0002413 glycogen storage disease I skos:exactMatch SCTID:7265005 semapv:UnspecifiedMatching MONDO:0002413 glycogen storage disease I skos:exactMatch mesh:D005953 semapv:UnspecifiedMatching MONDO:0002414 gastric hemangioma skos:exactMatch DOID:275 gastric hemangioma semapv:UnspecifiedMatching MONDO:0002414 gastric hemangioma skos:exactMatch NCIT:C5481 Gastric Hemangioma semapv:UnspecifiedMatching MONDO:0002414 gastric hemangioma skos:exactMatch UMLS:C1333770 semapv:UnspecifiedMatching MONDO:0002415 bone carcinoma skos:exactMatch DOID:2762 bone carcinoma semapv:UnspecifiedMatching MONDO:0002416 ethmoid sinus squamous cell carcinoma skos:exactMatch DOID:2763 ethmoid sinus squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0002416 ethmoid sinus squamous cell carcinoma skos:exactMatch NCIT:C6065 Ethmoid Sinus Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002416 ethmoid sinus squamous cell carcinoma skos:exactMatch SCTID:707359008 semapv:UnspecifiedMatching MONDO:0002416 ethmoid sinus squamous cell carcinoma skos:exactMatch UMLS:C1333477 semapv:UnspecifiedMatching MONDO:0002418 ethmoid sinus adenocarcinoma skos:exactMatch DOID:2766 ethmoid sinus adenocarcinoma semapv:UnspecifiedMatching MONDO:0002418 ethmoid sinus adenocarcinoma skos:exactMatch NCIT:C6237 Ethmoid Sinus Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002418 ethmoid sinus adenocarcinoma skos:exactMatch UMLS:C1333472 semapv:UnspecifiedMatching MONDO:0002419 transient tic disorder skos:exactMatch DOID:2768 transient tic disorder semapv:UnspecifiedMatching MONDO:0002419 transient tic disorder skos:exactMatch ICD10CM:F95.0 Transient tic disorder semapv:UnspecifiedMatching MONDO:0002419 transient tic disorder skos:exactMatch NCIT:C116767 Transient Tic Disorder semapv:UnspecifiedMatching MONDO:0002419 transient tic disorder skos:exactMatch SCTID:56573006 semapv:UnspecifiedMatching MONDO:0002420 tic disorder skos:exactMatch DOID:2769 tic disorder semapv:UnspecifiedMatching MONDO:0002420 tic disorder skos:exactMatch SCTID:568005 semapv:UnspecifiedMatching MONDO:0002420 tic disorder skos:exactMatch mesh:D013981 semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch DOID:2775 long bone adamantinoma semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch DOID:2776 adamantinoma semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch NCIT:C7644 Adamantinoma semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch OMIM:102660 adamantinoma of long bones semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch Orphanet:55881 Adamantinoma semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch SCTID:307609003 semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch UMLS:C0334556 semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch mesh:C562741 semapv:UnspecifiedMatching MONDO:0002422 adamantinoma skos:exactMatch mesh:D050398 semapv:UnspecifiedMatching MONDO:0002423 rectosigmoid junction neoplasm skos:exactMatch DOID:2780 rectosigmoid junction neoplasm semapv:UnspecifiedMatching MONDO:0002423 rectosigmoid junction neoplasm skos:exactMatch NCIT:C4877 Rectosigmoid Neoplasm semapv:UnspecifiedMatching MONDO:0002423 rectosigmoid junction neoplasm skos:exactMatch SCTID:126848003 semapv:UnspecifiedMatching MONDO:0002423 rectosigmoid junction neoplasm skos:exactMatch UMLS:C0345873 semapv:UnspecifiedMatching MONDO:0002424 rectosigmoid carcinoma skos:exactMatch DOID:2781 rectosigmoid cancer semapv:UnspecifiedMatching MONDO:0002424 rectosigmoid carcinoma skos:exactMatch NCIT:C7421 Rectosigmoid Carcinoma semapv:UnspecifiedMatching MONDO:0002424 rectosigmoid carcinoma skos:exactMatch UMLS:C1327709 semapv:UnspecifiedMatching MONDO:0002425 rectosigmoid junction cancer skos:exactMatch DOID:2782 rectosigmoid junction cancer semapv:UnspecifiedMatching MONDO:0002425 rectosigmoid junction cancer skos:exactMatch ICD10CM:C19 Malignant neoplasm of rectosigmoid junction semapv:UnspecifiedMatching MONDO:0002425 rectosigmoid junction cancer skos:exactMatch NCIT:C7420 Malignant Rectosigmoid Neoplasm semapv:UnspecifiedMatching MONDO:0002425 rectosigmoid junction cancer skos:exactMatch SCTID:363414004 semapv:UnspecifiedMatching MONDO:0002425 rectosigmoid junction cancer skos:exactMatch UMLS:C0153443 semapv:UnspecifiedMatching MONDO:0002426 lung sarcoma skos:exactMatch DOID:2784 lung sarcoma semapv:UnspecifiedMatching MONDO:0002426 lung sarcoma skos:exactMatch NCIT:C4860 Lung Sarcoma semapv:UnspecifiedMatching MONDO:0002426 lung sarcoma skos:exactMatch UMLS:C0598790 semapv:UnspecifiedMatching MONDO:0002427 cerebellar disorder skos:exactMatch DOID:2786 cerebellar disease semapv:UnspecifiedMatching MONDO:0002427 cerebellar disorder skos:exactMatch SCTID:223176004 semapv:UnspecifiedMatching MONDO:0002427 cerebellar disorder skos:exactMatch UMLS:C0007760 semapv:UnspecifiedMatching MONDO:0002427 cerebellar disorder skos:exactMatch mesh:D002526 semapv:UnspecifiedMatching MONDO:0002428 protozoa infectious disease skos:exactMatch DOID:2789 parasitic protozoa infectious disease semapv:UnspecifiedMatching MONDO:0002428 protozoa infectious disease skos:exactMatch ICD10CM:B50-B64 Protozoal diseases (B50-B64) semapv:UnspecifiedMatching MONDO:0002428 protozoa infectious disease skos:exactMatch NCIT:C34953 Protozoal Infection semapv:UnspecifiedMatching MONDO:0002428 protozoa infectious disease skos:exactMatch mesh:D011528 semapv:UnspecifiedMatching MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch DOID:2797 idiopathic interstitial pneumonia semapv:UnspecifiedMatching MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch NCIT:C35714 Idiopathic Interstitial Pneumonia semapv:UnspecifiedMatching MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:UnspecifiedMatching MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch SCTID:700249006 semapv:UnspecifiedMatching MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch UMLS:C2350236 semapv:UnspecifiedMatching MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch mesh:D054988 semapv:UnspecifiedMatching MONDO:0002432 malignant neoplasm of acoustic nerve skos:exactMatch DOID:2814 malignant neoplasm of acoustic nerve semapv:UnspecifiedMatching MONDO:0002432 malignant neoplasm of acoustic nerve skos:exactMatch NCIT:C4539 Malignant Vestibulocochlear Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002432 malignant neoplasm of acoustic nerve skos:exactMatch SCTID:254980001 semapv:UnspecifiedMatching MONDO:0002432 malignant neoplasm of acoustic nerve skos:exactMatch UMLS:C0346331 semapv:UnspecifiedMatching MONDO:0002433 malignant cranial nerve neoplasm skos:exactMatch DOID:2815 cranial nerve malignant neoplasm semapv:UnspecifiedMatching MONDO:0002433 malignant cranial nerve neoplasm skos:exactMatch NCIT:C3571 Malignant Cranial Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002433 malignant cranial nerve neoplasm skos:exactMatch SCTID:188307009 semapv:UnspecifiedMatching MONDO:0002433 malignant cranial nerve neoplasm skos:exactMatch UMLS:C0153644 semapv:UnspecifiedMatching MONDO:0002434 oculomotor nerve cancer skos:exactMatch DOID:2816 malignant oculomotor nerve tumor semapv:UnspecifiedMatching MONDO:0002434 oculomotor nerve cancer skos:exactMatch NCIT:C6995 Malignant Oculomotor Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002434 oculomotor nerve cancer skos:exactMatch SCTID:93929003 semapv:UnspecifiedMatching MONDO:0002434 oculomotor nerve cancer skos:exactMatch UMLS:C0686417 semapv:UnspecifiedMatching MONDO:0002435 oculomotor nerve neoplasm skos:exactMatch DOID:2817 cranial nerve III tumor semapv:UnspecifiedMatching MONDO:0002435 oculomotor nerve neoplasm skos:exactMatch NCIT:C6994 Oculomotor Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002435 oculomotor nerve neoplasm skos:exactMatch SCTID:126969002 semapv:UnspecifiedMatching MONDO:0002435 oculomotor nerve neoplasm skos:exactMatch UMLS:C1263895 semapv:UnspecifiedMatching MONDO:0002436 nasal disorder skos:exactMatch DOID:2825 nose disease semapv:UnspecifiedMatching MONDO:0002436 nasal disorder skos:exactMatch SCTID:89488007 semapv:UnspecifiedMatching MONDO:0002436 nasal disorder skos:exactMatch UMLS:C0028432 semapv:UnspecifiedMatching MONDO:0002436 nasal disorder skos:exactMatch mesh:D009668 semapv:UnspecifiedMatching MONDO:0002437 dehydration polycythemia skos:exactMatch DOID:2833 dehydration polycythemia semapv:UnspecifiedMatching MONDO:0002437 dehydration polycythemia skos:exactMatch NCIT:C27310 Dehydration Polycythemia semapv:UnspecifiedMatching MONDO:0002437 dehydration polycythemia skos:exactMatch UMLS:C0856815 semapv:UnspecifiedMatching MONDO:0002438 acquired polycythemia skos:exactMatch DOID:2834 acquired polycythemia semapv:UnspecifiedMatching MONDO:0002440 erythropoietin polycythemia skos:exactMatch DOID:2839 erythropoietin polycythemia semapv:UnspecifiedMatching MONDO:0002440 erythropoietin polycythemia skos:exactMatch NCIT:C35434 Polycythaemia due to Excess Erythropoetin Production semapv:UnspecifiedMatching MONDO:0002440 erythropoietin polycythemia skos:exactMatch SCTID:367328005 semapv:UnspecifiedMatching MONDO:0002440 erythropoietin polycythemia skos:exactMatch UMLS:C0391869 semapv:UnspecifiedMatching MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:exactMatch DOID:2842 Jervell-Lange Nielsen syndrome semapv:UnspecifiedMatching MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:exactMatch NCIT:C84793 Jervell and Lange Nielsen Syndrome semapv:UnspecifiedMatching MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:exactMatch OMIMPS:220400 semapv:UnspecifiedMatching MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:exactMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:UnspecifiedMatching MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:exactMatch SCTID:373905003 semapv:UnspecifiedMatching MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:exactMatch UMLS:C0022387 semapv:UnspecifiedMatching MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:exactMatch mesh:D029593 semapv:UnspecifiedMatching MONDO:0002442 long QT syndrome skos:exactMatch DOID:2843 long QT syndrome semapv:UnspecifiedMatching MONDO:0002442 long QT syndrome skos:exactMatch ICD10CM:I45.81 Long QT syndrome semapv:UnspecifiedMatching MONDO:0002442 long QT syndrome skos:exactMatch NCIT:C34786 Long QT Syndrome semapv:UnspecifiedMatching MONDO:0002442 long QT syndrome skos:exactMatch UMLS:C0023976 semapv:UnspecifiedMatching MONDO:0002442 long QT syndrome skos:exactMatch mesh:D008133 semapv:UnspecifiedMatching MONDO:0002443 bruxism skos:exactMatch DOID:2846 bruxism semapv:UnspecifiedMatching MONDO:0002443 bruxism skos:exactMatch mesh:D002012 semapv:UnspecifiedMatching MONDO:0002444 melancholia skos:exactMatch NCIT:C34812 Melancholic Depression semapv:UnspecifiedMatching MONDO:0002447 endometrial carcinoma skos:exactMatch DOID:2871 endometrial carcinoma semapv:UnspecifiedMatching MONDO:0002447 endometrial carcinoma skos:exactMatch NCIT:C7558 Endometrial Carcinoma semapv:UnspecifiedMatching MONDO:0002447 endometrial carcinoma skos:exactMatch SCTID:254878006 semapv:UnspecifiedMatching MONDO:0002447 endometrial carcinoma skos:exactMatch UMLS:C0476089 semapv:UnspecifiedMatching MONDO:0002448 laryngeal sarcoma skos:exactMatch DOID:2877 larynx sarcoma semapv:UnspecifiedMatching MONDO:0002448 laryngeal sarcoma skos:exactMatch NCIT:C6020 Laryngeal Sarcoma semapv:UnspecifiedMatching MONDO:0002448 laryngeal sarcoma skos:exactMatch UMLS:C1334377 semapv:UnspecifiedMatching MONDO:0002449 nodular degeneration of cornea skos:exactMatch DOID:2879 nodular degeneration of cornea semapv:UnspecifiedMatching MONDO:0002449 nodular degeneration of cornea skos:exactMatch SCTID:72620002 semapv:UnspecifiedMatching MONDO:0002449 nodular degeneration of cornea skos:exactMatch UMLS:C0155122 semapv:UnspecifiedMatching MONDO:0002450 prostatic adenoma skos:exactMatch DOID:2883 prostatic adenoma semapv:UnspecifiedMatching MONDO:0002450 prostatic adenoma skos:exactMatch NCIT:C4795 Prostate Adenoma semapv:UnspecifiedMatching MONDO:0002450 prostatic adenoma skos:exactMatch SCTID:21173002 semapv:UnspecifiedMatching MONDO:0002450 prostatic adenoma skos:exactMatch UMLS:C0520477 semapv:UnspecifiedMatching MONDO:0002451 benign prostate phyllodes tumor skos:exactMatch DOID:2885 benign prostate phyllodes tumor semapv:UnspecifiedMatching MONDO:0002451 benign prostate phyllodes tumor skos:exactMatch NCIT:C5532 Benign Prostate Phyllodes Tumor semapv:UnspecifiedMatching MONDO:0002451 benign prostate phyllodes tumor skos:exactMatch UMLS:C1332535 semapv:UnspecifiedMatching MONDO:0002452 prostate leiomyoma skos:exactMatch DOID:2887 prostate leiomyoma semapv:UnspecifiedMatching MONDO:0002452 prostate leiomyoma skos:exactMatch NCIT:C5544 Prostate Leiomyoma semapv:UnspecifiedMatching MONDO:0002452 prostate leiomyoma skos:exactMatch UMLS:C1335510 semapv:UnspecifiedMatching MONDO:0002453 retrocochlear disease skos:exactMatch DOID:2889 retrocochlear disease semapv:UnspecifiedMatching MONDO:0002453 retrocochlear disease skos:exactMatch UMLS:C0035352 semapv:UnspecifiedMatching MONDO:0002453 retrocochlear disease skos:exactMatch mesh:D012181 semapv:UnspecifiedMatching MONDO:0002455 exocervical carcinoma skos:exactMatch DOID:2892 exocervical carcinoma semapv:UnspecifiedMatching MONDO:0002455 exocervical carcinoma skos:exactMatch NCIT:C7453 Exocervical Carcinoma semapv:UnspecifiedMatching MONDO:0002455 exocervical carcinoma skos:exactMatch SCTID:372100004 semapv:UnspecifiedMatching MONDO:0002455 exocervical carcinoma skos:exactMatch UMLS:C1299238 semapv:UnspecifiedMatching MONDO:0002457 Treacher-Collins syndrome skos:exactMatch DOID:2908 Treacher Collins syndrome semapv:UnspecifiedMatching MONDO:0002457 Treacher-Collins syndrome skos:exactMatch NCIT:C75018 Treacher Collins Syndrome semapv:UnspecifiedMatching MONDO:0002457 Treacher-Collins syndrome skos:exactMatch OMIMPS:154500 semapv:UnspecifiedMatching MONDO:0002457 Treacher-Collins syndrome skos:exactMatch Orphanet:861 Treacher-Collins syndrome semapv:UnspecifiedMatching MONDO:0002457 Treacher-Collins syndrome skos:exactMatch SCTID:62767009 semapv:UnspecifiedMatching MONDO:0002457 Treacher-Collins syndrome skos:exactMatch UMLS:C0242387 semapv:UnspecifiedMatching MONDO:0002459 type IV hypersensitivity disease skos:exactMatch DOID:2916 hypersensitivity reaction type IV disease semapv:UnspecifiedMatching MONDO:0002459 type IV hypersensitivity disease skos:exactMatch NCIT:C3115 Type IV Hypersensitivity semapv:UnspecifiedMatching MONDO:0002459 type IV hypersensitivity disease skos:exactMatch UMLS:C0020522 semapv:UnspecifiedMatching MONDO:0002460 lacrimal system cancer skos:exactMatch DOID:292 lacrimal system cancer semapv:UnspecifiedMatching MONDO:0002460 lacrimal system cancer skos:exactMatch NCIT:C5102 Lacrimal System Neoplasm semapv:UnspecifiedMatching MONDO:0002460 lacrimal system cancer skos:exactMatch SCTID:416510003 semapv:UnspecifiedMatching MONDO:0002460 lacrimal system cancer skos:exactMatch UMLS:C1334361 semapv:UnspecifiedMatching MONDO:0002461 membranoproliferative glomerulonephritis skos:exactMatch DOID:2920 membranoproliferative glomerulonephritis semapv:UnspecifiedMatching MONDO:0002461 membranoproliferative glomerulonephritis skos:exactMatch NCIT:C34644 Membranoproliferative Glomerulonephritis semapv:UnspecifiedMatching MONDO:0002461 membranoproliferative glomerulonephritis skos:exactMatch SCTID:80321008 semapv:UnspecifiedMatching MONDO:0002461 membranoproliferative glomerulonephritis skos:exactMatch UMLS:C0017662 semapv:UnspecifiedMatching MONDO:0002461 membranoproliferative glomerulonephritis skos:exactMatch mesh:D015432 semapv:UnspecifiedMatching MONDO:0002462 glomerulonephritis skos:exactMatch DOID:2921 glomerulonephritis semapv:UnspecifiedMatching MONDO:0002462 glomerulonephritis skos:exactMatch NCIT:C26784 Glomerulonephritis semapv:UnspecifiedMatching MONDO:0002462 glomerulonephritis skos:exactMatch SCTID:36171008 semapv:UnspecifiedMatching MONDO:0002462 glomerulonephritis skos:exactMatch UMLS:C0017658 semapv:UnspecifiedMatching MONDO:0002462 glomerulonephritis skos:exactMatch mesh:D005921 semapv:UnspecifiedMatching MONDO:0002463 lacrimal gland carcinoma skos:exactMatch DOID:293 lacrimal gland carcinoma semapv:UnspecifiedMatching MONDO:0002463 lacrimal gland carcinoma skos:exactMatch NCIT:C6129 Lacrimal Gland Carcinoma semapv:UnspecifiedMatching MONDO:0002463 lacrimal gland carcinoma skos:exactMatch UMLS:C1334358 semapv:UnspecifiedMatching MONDO:0002464 lacrimal gland cancer skos:exactMatch DOID:294 lacrimal gland cancer semapv:UnspecifiedMatching MONDO:0002464 lacrimal gland cancer skos:exactMatch NCIT:C3563 Malignant Lacrimal Gland Neoplasm semapv:UnspecifiedMatching MONDO:0002464 lacrimal gland cancer skos:exactMatch SCTID:127004000 semapv:UnspecifiedMatching MONDO:0002465 bronchiolitis skos:exactMatch DOID:2942 bronchiolitis semapv:UnspecifiedMatching MONDO:0002465 bronchiolitis skos:exactMatch NCIT:C39658 Bronchiolitis semapv:UnspecifiedMatching MONDO:0002465 bronchiolitis skos:exactMatch SCTID:4120002 semapv:UnspecifiedMatching MONDO:0002465 bronchiolitis skos:exactMatch UMLS:C0006271 semapv:UnspecifiedMatching MONDO:0002465 bronchiolitis skos:exactMatch mesh:D001988 semapv:UnspecifiedMatching MONDO:0002466 eye carcinoma skos:exactMatch DOID:295 eye carcinoma semapv:UnspecifiedMatching MONDO:0002466 eye carcinoma skos:exactMatch NCIT:C6079 Eye Carcinoma semapv:UnspecifiedMatching MONDO:0002466 eye carcinoma skos:exactMatch UMLS:C0848866 semapv:UnspecifiedMatching MONDO:0002467 inner ear disorder skos:exactMatch DOID:2952 inner ear disease semapv:UnspecifiedMatching MONDO:0002467 inner ear disorder skos:exactMatch ICD10CM:H80-H83 Diseases of inner ear (H80-H83) semapv:UnspecifiedMatching MONDO:0002467 inner ear disorder skos:exactMatch NCIT:C27166 Inner Ear Disorder semapv:UnspecifiedMatching MONDO:0002467 inner ear disorder skos:exactMatch SCTID:232297009 semapv:UnspecifiedMatching MONDO:0002467 inner ear disorder skos:exactMatch mesh:D007759 semapv:UnspecifiedMatching MONDO:0002468 hyperimmunoglobulin syndrome skos:exactMatch DOID:2959 hyperimmunoglobulin syndrome semapv:UnspecifiedMatching MONDO:0002468 hyperimmunoglobulin syndrome skos:exactMatch NCIT:C27579 Hyperimmunoglobulin Syndrome semapv:UnspecifiedMatching MONDO:0002468 hyperimmunoglobulin syndrome skos:exactMatch UMLS:C1334069 semapv:UnspecifiedMatching MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma skos:exactMatch DOID:296 mixed lacrimal gland cancer semapv:UnspecifiedMatching MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma skos:exactMatch NCIT:C6804 Lacrimal Gland Carcinoma ex Pleomorphic Adenoma semapv:UnspecifiedMatching MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma skos:exactMatch SCTID:254989000 semapv:UnspecifiedMatching MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma skos:exactMatch UMLS:C0346342 semapv:UnspecifiedMatching MONDO:0002470 photosensitive trichothiodystrophy skos:exactMatch DOID:2960 photosensitive trichothiodystrophy semapv:UnspecifiedMatching MONDO:0002470 photosensitive trichothiodystrophy skos:exactMatch UMLS:C1848412 semapv:UnspecifiedMatching MONDO:0002471 bursitis skos:exactMatch DOID:2965 bursitis semapv:UnspecifiedMatching MONDO:0002471 bursitis skos:exactMatch NCIT:C94407 Bursitis semapv:UnspecifiedMatching MONDO:0002471 bursitis skos:exactMatch SCTID:84017003 semapv:UnspecifiedMatching MONDO:0002471 bursitis skos:exactMatch UMLS:C0006444 semapv:UnspecifiedMatching MONDO:0002471 bursitis skos:exactMatch mesh:D002062 semapv:UnspecifiedMatching MONDO:0002472 carcinoma ex pleomorphic adenoma skos:exactMatch NCIT:C4397 Carcinoma ex Pleomorphic Adenoma semapv:UnspecifiedMatching MONDO:0002472 carcinoma ex pleomorphic adenoma skos:exactMatch UMLS:C0344460 semapv:UnspecifiedMatching MONDO:0002473 cystic kidney disease skos:exactMatch DOID:2975 cystic kidney disease semapv:UnspecifiedMatching MONDO:0002473 cystic kidney disease skos:exactMatch ICD10CM:Q61 Cystic kidney disease semapv:UnspecifiedMatching MONDO:0002473 cystic kidney disease skos:exactMatch NCIT:C34750 Cystic Kidney Disease semapv:UnspecifiedMatching MONDO:0002473 cystic kidney disease skos:exactMatch SCTID:722223000 semapv:UnspecifiedMatching MONDO:0002473 cystic kidney disease skos:exactMatch UMLS:C3887499 semapv:UnspecifiedMatching MONDO:0002473 cystic kidney disease skos:exactMatch mesh:D052177 semapv:UnspecifiedMatching MONDO:0002474 primary hyperoxaluria skos:exactMatch DOID:2977 primary hyperoxaluria semapv:UnspecifiedMatching MONDO:0002474 primary hyperoxaluria skos:exactMatch NCIT:C123158 Primary Hyperoxaluria semapv:UnspecifiedMatching MONDO:0002474 primary hyperoxaluria skos:exactMatch OMIMPS:259900 semapv:UnspecifiedMatching MONDO:0002474 primary hyperoxaluria skos:exactMatch Orphanet:416 Primary hyperoxaluria semapv:UnspecifiedMatching MONDO:0002474 primary hyperoxaluria skos:exactMatch SCTID:17901006 semapv:UnspecifiedMatching MONDO:0002474 primary hyperoxaluria skos:exactMatch UMLS:C0020501 semapv:UnspecifiedMatching MONDO:0002474 primary hyperoxaluria skos:exactMatch mesh:D006960 semapv:UnspecifiedMatching MONDO:0002475 lacrimal gland adenocarcinoma skos:exactMatch DOID:298 lacrimal gland adenocarcinoma semapv:UnspecifiedMatching MONDO:0002475 lacrimal gland adenocarcinoma skos:exactMatch NCIT:C4541 Lacrimal Gland Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002475 lacrimal gland adenocarcinoma skos:exactMatch SCTID:254988008 semapv:UnspecifiedMatching MONDO:0002475 lacrimal gland adenocarcinoma skos:exactMatch UMLS:C0346341 semapv:UnspecifiedMatching MONDO:0002476 anuria skos:exactMatch DOID:2983 anuria semapv:UnspecifiedMatching MONDO:0002476 anuria skos:exactMatch UMLS:C0003460 semapv:UnspecifiedMatching MONDO:0002476 anuria skos:exactMatch mesh:D001002 semapv:UnspecifiedMatching MONDO:0002477 prostate neuroendocrine neoplasm skos:exactMatch DOID:2992 prostate neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO:0002477 prostate neuroendocrine neoplasm skos:exactMatch NCIT:C5545 Prostate Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0002477 prostate neuroendocrine neoplasm skos:exactMatch UMLS:C1335515 semapv:UnspecifiedMatching MONDO:0002478 mixed germ cell-sex cord-stromal tumor skos:exactMatch DOID:2996 mixed germ cell-sex cord neoplasm semapv:UnspecifiedMatching MONDO:0002478 mixed germ cell-sex cord-stromal tumor skos:exactMatch NCIT:C5241 Mixed Germ Cell-Sex Cord-Stromal Tumor semapv:UnspecifiedMatching MONDO:0002478 mixed germ cell-sex cord-stromal tumor skos:exactMatch UMLS:C1321220 semapv:UnspecifiedMatching MONDO:0002479 Sertoli-Leydig cell tumor skos:exactMatch DOID:2997 Sertoli-Leydig cell tumor semapv:UnspecifiedMatching MONDO:0002479 Sertoli-Leydig cell tumor skos:exactMatch UMLS:C0206723 semapv:UnspecifiedMatching MONDO:0002479 Sertoli-Leydig cell tumor skos:exactMatch mesh:D018310 semapv:UnspecifiedMatching MONDO:0002480 endometrioid tumor skos:exactMatch DOID:3001 female reproductive endometrioid cancer semapv:UnspecifiedMatching MONDO:0002480 endometrioid tumor skos:exactMatch NCIT:C7113 Endometrioid Tumor semapv:UnspecifiedMatching MONDO:0002480 endometrioid tumor skos:exactMatch UMLS:C0474809 semapv:UnspecifiedMatching MONDO:0002481 ovarian neuroendocrine neoplasm skos:exactMatch DOID:3002 ovary neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO:0002481 ovarian neuroendocrine neoplasm skos:exactMatch NCIT:C5237 Ovarian Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0002481 ovarian neuroendocrine neoplasm skos:exactMatch UMLS:C1335172 semapv:UnspecifiedMatching MONDO:0002482 nipple neoplasm skos:exactMatch DOID:3003 nipple benign neoplasm semapv:UnspecifiedMatching MONDO:0002482 nipple neoplasm skos:exactMatch NCIT:C5212 Nipple Neoplasm semapv:UnspecifiedMatching MONDO:0002482 nipple neoplasm skos:exactMatch UMLS:C1112166 semapv:UnspecifiedMatching MONDO:0002483 breast myoepithelial tumor skos:exactMatch DOID:3004 breast myoepithelial neoplasm semapv:UnspecifiedMatching MONDO:0002483 breast myoepithelial tumor skos:exactMatch NCIT:C40389 Breast Myoepithelial Tumor semapv:UnspecifiedMatching MONDO:0002483 breast myoepithelial tumor skos:exactMatch UMLS:C1511319 semapv:UnspecifiedMatching MONDO:0002485 breast neuroendocrine neoplasm skos:exactMatch DOID:3009 breast neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO:0002485 breast neuroendocrine neoplasm skos:exactMatch NCIT:C5169 Breast Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0002485 breast neuroendocrine neoplasm skos:exactMatch UMLS:C1332635 semapv:UnspecifiedMatching MONDO:0002486 lobular neoplasia skos:exactMatch DOID:3010 lobular neoplasia semapv:UnspecifiedMatching MONDO:0002486 lobular neoplasia skos:exactMatch NCIT:C27939 Breast Lobular Neoplasia semapv:UnspecifiedMatching MONDO:0002486 lobular neoplasia skos:exactMatch UMLS:C0861352 semapv:UnspecifiedMatching MONDO:0002487 breast granular cell tumor skos:exactMatch DOID:3011 breast granular cell tumor semapv:UnspecifiedMatching MONDO:0002487 breast granular cell tumor skos:exactMatch NCIT:C40400 Breast Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0002487 breast granular cell tumor skos:exactMatch UMLS:C1511312 semapv:UnspecifiedMatching MONDO:0002488 intraductal breast neoplasm skos:exactMatch DOID:3013 intraductal breast benign neoplasm semapv:UnspecifiedMatching MONDO:0002488 intraductal breast neoplasm skos:exactMatch NCIT:C36083 Breast Intraductal Neoplasm semapv:UnspecifiedMatching MONDO:0002488 intraductal breast neoplasm skos:exactMatch UMLS:C0948967 semapv:UnspecifiedMatching MONDO:0002489 malignant breast phyllodes tumor skos:exactMatch DOID:3016 breast malignant phyllodes tumor semapv:UnspecifiedMatching MONDO:0002489 malignant breast phyllodes tumor skos:exactMatch NCIT:C4504 Malignant Breast Phyllodes Tumor semapv:UnspecifiedMatching MONDO:0002489 malignant breast phyllodes tumor skos:exactMatch SCTID:254844000 semapv:UnspecifiedMatching MONDO:0002490 breast sarcoma skos:exactMatch DOID:3017 breast sarcoma semapv:UnspecifiedMatching MONDO:0002490 breast sarcoma skos:exactMatch NCIT:C4670 Breast Sarcoma semapv:UnspecifiedMatching MONDO:0002490 breast sarcoma skos:exactMatch SCTID:278050001 semapv:UnspecifiedMatching MONDO:0002490 breast sarcoma skos:exactMatch UMLS:C0349667 semapv:UnspecifiedMatching MONDO:0002491 substance abuse skos:exactMatch DOID:302 substance abuse semapv:UnspecifiedMatching MONDO:0002491 substance abuse skos:exactMatch SCTID:66214007 semapv:UnspecifiedMatching MONDO:0002492 acute kidney failure skos:exactMatch DOID:3021 acute kidney failure semapv:UnspecifiedMatching MONDO:0002492 acute kidney failure skos:exactMatch ICD10CM:N17 Acute kidney failure semapv:UnspecifiedMatching MONDO:0002492 acute kidney failure skos:exactMatch NCIT:C26808 Acute Renal Failure semapv:UnspecifiedMatching MONDO:0002492 acute kidney failure skos:exactMatch mesh:D058186 semapv:UnspecifiedMatching MONDO:0002493 prostatic acinar adenocarcinoma skos:exactMatch DOID:3024 prostatic acinar adenocarcinoma semapv:UnspecifiedMatching MONDO:0002493 prostatic acinar adenocarcinoma skos:exactMatch NCIT:C5596 Prostate Acinar Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002493 prostatic acinar adenocarcinoma skos:exactMatch UMLS:C1332139 semapv:UnspecifiedMatching MONDO:0002494 substance-related disorder skos:exactMatch DOID:303 substance-related disorder semapv:UnspecifiedMatching MONDO:0002494 substance-related disorder skos:exactMatch ICD10CM:F10-F19 Mental and behavioral disorders due to psychoactive substance use (F10-F19) semapv:UnspecifiedMatching MONDO:0002494 substance-related disorder skos:exactMatch NCIT:C92203 Substance-Related Disorder semapv:UnspecifiedMatching MONDO:0002494 substance-related disorder skos:exactMatch mesh:D019966 semapv:UnspecifiedMatching MONDO:0002495 colon signet ring cell adenocarcinoma skos:exactMatch DOID:3033 colon signet ring adenocarcinoma semapv:UnspecifiedMatching MONDO:0002495 colon signet ring cell adenocarcinoma skos:exactMatch NCIT:C7967 Colon Signet Ring Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002495 colon signet ring cell adenocarcinoma skos:exactMatch UMLS:C1707436 semapv:UnspecifiedMatching MONDO:0002496 submucosal invasive colon adenocarcinoma skos:exactMatch DOID:3038 submucosal invasive colon adenocarcinoma semapv:UnspecifiedMatching MONDO:0002496 submucosal invasive colon adenocarcinoma skos:exactMatch NCIT:C38760 Submucosal Invasive Colon Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002496 submucosal invasive colon adenocarcinoma skos:exactMatch UMLS:C1515024 semapv:UnspecifiedMatching MONDO:0002501 brain glioblastoma skos:exactMatch DOID:3073 brain glioblastoma multiforme semapv:UnspecifiedMatching MONDO:0002501 brain glioblastoma skos:exactMatch NCIT:C4642 Brain Glioblastoma semapv:UnspecifiedMatching MONDO:0002501 brain glioblastoma skos:exactMatch SCTID:276828006 semapv:UnspecifiedMatching MONDO:0002501 brain glioblastoma skos:exactMatch UMLS:C0349543 semapv:UnspecifiedMatching MONDO:0002503 adult astrocytic tumor skos:exactMatch DOID:3076 adult astrocytic tumor semapv:UnspecifiedMatching MONDO:0002503 adult astrocytic tumor skos:exactMatch NCIT:C7049 Adult Astrocytic Tumor semapv:UnspecifiedMatching MONDO:0002503 adult astrocytic tumor skos:exactMatch UMLS:C1332183 semapv:UnspecifiedMatching MONDO:0002505 childhood astrocytic tumor skos:exactMatch DOID:3079 childhood astrocytic tumor semapv:UnspecifiedMatching MONDO:0002505 childhood astrocytic tumor skos:exactMatch NCIT:C9022 Childhood Astrocytic Tumor semapv:UnspecifiedMatching MONDO:0002505 childhood astrocytic tumor skos:exactMatch UMLS:C1321865 semapv:UnspecifiedMatching MONDO:0002507 gingival overgrowth skos:exactMatch DOID:3086 gingival overgrowth semapv:UnspecifiedMatching MONDO:0002507 gingival overgrowth skos:exactMatch SCTID:54711002 semapv:UnspecifiedMatching MONDO:0002507 gingival overgrowth skos:exactMatch mesh:D019214 semapv:UnspecifiedMatching MONDO:0002508 gingivitis skos:exactMatch DOID:3087 gingivitis semapv:UnspecifiedMatching MONDO:0002508 gingivitis skos:exactMatch NCIT:C34636 Gingivitis semapv:UnspecifiedMatching MONDO:0002508 gingivitis skos:exactMatch SCTID:66383009 semapv:UnspecifiedMatching MONDO:0002508 gingivitis skos:exactMatch UMLS:C0017574 semapv:UnspecifiedMatching MONDO:0002508 gingivitis skos:exactMatch mesh:D005891 semapv:UnspecifiedMatching MONDO:0002509 non-specific granulomatous orchitis skos:exactMatch DOID:3089 granulomatous orchitis semapv:UnspecifiedMatching MONDO:0002509 non-specific granulomatous orchitis skos:exactMatch NCIT:C27162 Non-Specific Granulomatous Orchitis semapv:UnspecifiedMatching MONDO:0002509 non-specific granulomatous orchitis skos:exactMatch SCTID:50390006 semapv:UnspecifiedMatching MONDO:0002509 non-specific granulomatous orchitis skos:exactMatch UMLS:C0436545 semapv:UnspecifiedMatching MONDO:0002510 obsolete germ cell and embryonal cancer skos:exactMatch DOID:3095 germ cell and embryonal cancer semapv:UnspecifiedMatching MONDO:0002510 obsolete germ cell and embryonal cancer skos:exactMatch mesh:D009373 semapv:UnspecifiedMatching MONDO:0002511 stenosis of lacrimal sac skos:exactMatch DOID:3096 stenosis of lacrimal sac semapv:UnspecifiedMatching MONDO:0002511 stenosis of lacrimal sac skos:exactMatch SCTID:11772001 semapv:UnspecifiedMatching MONDO:0002512 papillary adenocarcinoma skos:exactMatch DOID:3112 papillary adenocarcinoma semapv:UnspecifiedMatching MONDO:0002512 papillary adenocarcinoma skos:exactMatch NCIT:C2853 Papillary Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002512 papillary adenocarcinoma skos:exactMatch UMLS:C0001420 semapv:UnspecifiedMatching MONDO:0002512 papillary adenocarcinoma skos:exactMatch mesh:D000231 semapv:UnspecifiedMatching MONDO:0002513 kidney benign neoplasm skos:exactMatch DOID:3116 kidney benign neoplasm semapv:UnspecifiedMatching MONDO:0002513 kidney benign neoplasm skos:exactMatch NCIT:C4778 Benign Kidney Neoplasm semapv:UnspecifiedMatching MONDO:0002513 kidney benign neoplasm skos:exactMatch SCTID:92165001 semapv:UnspecifiedMatching MONDO:0002514 hepatobiliary neoplasm skos:exactMatch DOID:0080355 hepatobiliary system cancer semapv:UnspecifiedMatching MONDO:0002514 hepatobiliary neoplasm skos:exactMatch NCIT:C8614 Hepatobiliary Neoplasm semapv:UnspecifiedMatching MONDO:0002514 hepatobiliary neoplasm skos:exactMatch UMLS:C0854196 semapv:UnspecifiedMatching MONDO:0002515 hepatobiliary disorder skos:exactMatch DOID:3118 hepatobiliary disease semapv:UnspecifiedMatching MONDO:0002515 hepatobiliary disorder skos:exactMatch NCIT:C3959 Hepatobiliary Disorder semapv:UnspecifiedMatching MONDO:0002515 hepatobiliary disorder skos:exactMatch UMLS:C0267792 semapv:UnspecifiedMatching MONDO:0002516 digestive system cancer skos:exactMatch DOID:3119 gastrointestinal system cancer semapv:UnspecifiedMatching MONDO:0002516 digestive system cancer skos:exactMatch ICD10CM:C15-C26 Malignant neoplasms of digestive organs (C15-C26) semapv:UnspecifiedMatching MONDO:0002516 digestive system cancer skos:exactMatch NCIT:C4890 Malignant Digestive System Neoplasm semapv:UnspecifiedMatching MONDO:0002517 tenosynovitis of foot and ankle skos:exactMatch DOID:312 tenosynovitis of foot and ankle semapv:UnspecifiedMatching MONDO:0002518 gallbladder papillary neoplasm skos:exactMatch DOID:3120 gallbladder papillomatosis semapv:UnspecifiedMatching MONDO:0002518 gallbladder papillary neoplasm skos:exactMatch NCIT:C7130 Gallbladder Intracholecystic Papillary Neoplasm semapv:UnspecifiedMatching MONDO:0002518 gallbladder papillary neoplasm skos:exactMatch UMLS:C1333754 semapv:UnspecifiedMatching MONDO:0002519 anus disorder skos:exactMatch DOID:3128 anus disease semapv:UnspecifiedMatching MONDO:0002519 anus disorder skos:exactMatch NCIT:C26695 Anal Disorder semapv:UnspecifiedMatching MONDO:0002519 anus disorder skos:exactMatch SCTID:32110003 semapv:UnspecifiedMatching MONDO:0002519 anus disorder skos:exactMatch UMLS:C0003462 semapv:UnspecifiedMatching MONDO:0002519 anus disorder skos:exactMatch UMLS:C0016167 semapv:UnspecifiedMatching MONDO:0002519 anus disorder skos:exactMatch UMLS:C1301262 semapv:UnspecifiedMatching MONDO:0002519 anus disorder skos:exactMatch mesh:D001004 semapv:UnspecifiedMatching MONDO:0002520 hepatic porphyria skos:exactMatch DOID:3133 acute porphyria semapv:UnspecifiedMatching MONDO:0002520 hepatic porphyria skos:exactMatch Orphanet:95157 Acute hepatic porphyria semapv:UnspecifiedMatching MONDO:0002520 hepatic porphyria skos:exactMatch SCTID:55056006 semapv:UnspecifiedMatching MONDO:0002520 hepatic porphyria skos:exactMatch UMLS:C0162533 semapv:UnspecifiedMatching MONDO:0002520 hepatic porphyria skos:exactMatch mesh:D017094 semapv:UnspecifiedMatching MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch DOID:314 tenosynovial giant cell tumor semapv:UnspecifiedMatching MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch NCIT:C3402 Tenosynovial Giant Cell Tumor semapv:UnspecifiedMatching MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch SCTID:310605004 semapv:UnspecifiedMatching MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch UMLS:C1318543 semapv:UnspecifiedMatching MONDO:0002523 cutaneous mucinosis skos:exactMatch DOID:3141 mucinoses semapv:UnspecifiedMatching MONDO:0002523 cutaneous mucinosis skos:exactMatch SCTID:402721001 semapv:UnspecifiedMatching MONDO:0002523 cutaneous mucinosis skos:exactMatch UMLS:C0162855 semapv:UnspecifiedMatching MONDO:0002523 cutaneous mucinosis skos:exactMatch mesh:D017520 semapv:UnspecifiedMatching MONDO:0002525 inherited lipid metabolism disorder skos:exactMatch DOID:3146 lipid metabolism disorder semapv:UnspecifiedMatching MONDO:0002525 inherited lipid metabolism disorder skos:exactMatch NCIT:C97092 Lipid Metabolism Disorder semapv:UnspecifiedMatching MONDO:0002525 inherited lipid metabolism disorder skos:exactMatch Orphanet:309005 Disorder of lipid metabolism semapv:UnspecifiedMatching MONDO:0002525 inherited lipid metabolism disorder skos:exactMatch SCTID:267431006 semapv:UnspecifiedMatching MONDO:0002525 inherited lipid metabolism disorder skos:exactMatch UMLS:C0154251 semapv:UnspecifiedMatching MONDO:0002526 dermal unilateral segmental cavernous angioma skos:exactMatch DOID:3148 dermal unilateral segmental cavernous angioma semapv:UnspecifiedMatching MONDO:0002526 dermal unilateral segmental cavernous angioma skos:exactMatch UMLS:C0474966 semapv:UnspecifiedMatching MONDO:0002527 keratoacanthoma skos:exactMatch DOID:3149 keratoacanthoma semapv:UnspecifiedMatching MONDO:0002527 keratoacanthoma skos:exactMatch NCIT:C3146 Keratoacanthoma semapv:UnspecifiedMatching MONDO:0002527 keratoacanthoma skos:exactMatch SCTID:254662007 semapv:UnspecifiedMatching MONDO:0002527 keratoacanthoma skos:exactMatch UMLS:C0022572 semapv:UnspecifiedMatching MONDO:0002527 keratoacanthoma skos:exactMatch mesh:D007636 semapv:UnspecifiedMatching MONDO:0002528 synovium neoplasm skos:exactMatch DOID:315 synovium neoplasm semapv:UnspecifiedMatching MONDO:0002528 synovium neoplasm skos:exactMatch NCIT:C8964 Synovial Neoplasm semapv:UnspecifiedMatching MONDO:0002528 synovium neoplasm skos:exactMatch UMLS:C0476203 semapv:UnspecifiedMatching MONDO:0002529 skin squamous cell carcinoma skos:exactMatch DOID:3151 skin squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0002529 skin squamous cell carcinoma skos:exactMatch NCIT:C4819 Skin Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002529 skin squamous cell carcinoma skos:exactMatch SCTID:254651007 semapv:UnspecifiedMatching MONDO:0002529 skin squamous cell carcinoma skos:exactMatch UMLS:C0553723 semapv:UnspecifiedMatching MONDO:0002531 skin neoplasm skos:exactMatch DOID:3165 skin benign neoplasm semapv:UnspecifiedMatching MONDO:0002531 skin neoplasm skos:exactMatch NCIT:C3372 Skin Neoplasm semapv:UnspecifiedMatching MONDO:0002531 skin neoplasm skos:exactMatch SCTID:126488004 semapv:UnspecifiedMatching MONDO:0002531 skin neoplasm skos:exactMatch UMLS:C0037286 semapv:UnspecifiedMatching MONDO:0002531 skin neoplasm skos:exactMatch mesh:D012878 semapv:UnspecifiedMatching MONDO:0002532 squamous cell neoplasm skos:exactMatch DOID:3168 squamous cell neoplasm semapv:UnspecifiedMatching MONDO:0002532 squamous cell neoplasm skos:exactMatch NCIT:C3792 Squamous Cell Neoplasm semapv:UnspecifiedMatching MONDO:0002532 squamous cell neoplasm skos:exactMatch UMLS:C0206720 semapv:UnspecifiedMatching MONDO:0002532 squamous cell neoplasm skos:exactMatch mesh:D018307 semapv:UnspecifiedMatching MONDO:0002533 papillary adenoma skos:exactMatch DOID:3172 papillary adenoma semapv:UnspecifiedMatching MONDO:0002533 papillary adenoma skos:exactMatch NCIT:C79951 Papillary Adenoma semapv:UnspecifiedMatching MONDO:0002533 papillary adenoma skos:exactMatch UMLS:C0205650 semapv:UnspecifiedMatching MONDO:0002534 fallopian tube papilloma skos:exactMatch DOID:3173 fallopian tube serous papilloma semapv:UnspecifiedMatching MONDO:0002534 fallopian tube papilloma skos:exactMatch NCIT:C40112 Fallopian Tube Serous Papilloma semapv:UnspecifiedMatching MONDO:0002534 fallopian tube papilloma skos:exactMatch UMLS:C1517123 semapv:UnspecifiedMatching MONDO:0002535 verrucous papilloma skos:exactMatch DOID:3177 verrucous papilloma semapv:UnspecifiedMatching MONDO:0002535 verrucous papilloma skos:exactMatch NCIT:C4101 Verrucous Papilloma semapv:UnspecifiedMatching MONDO:0002535 verrucous papilloma skos:exactMatch UMLS:C0334243 semapv:UnspecifiedMatching MONDO:0002536 skin papilloma skos:exactMatch DOID:3178 skin papilloma semapv:UnspecifiedMatching MONDO:0002536 skin papilloma skos:exactMatch NCIT:C4614 Skin Papilloma semapv:UnspecifiedMatching MONDO:0002536 skin papilloma skos:exactMatch SCTID:255184001 semapv:UnspecifiedMatching MONDO:0002536 skin papilloma skos:exactMatch UMLS:C0347390 semapv:UnspecifiedMatching MONDO:0002537 inverted papilloma skos:exactMatch DOID:3179 inverted papilloma semapv:UnspecifiedMatching MONDO:0002537 inverted papilloma skos:exactMatch NCIT:C3793 Inverted Papilloma semapv:UnspecifiedMatching MONDO:0002537 inverted papilloma skos:exactMatch SCTID:104081000119103 semapv:UnspecifiedMatching MONDO:0002537 inverted papilloma skos:exactMatch UMLS:C0206721 semapv:UnspecifiedMatching MONDO:0002537 inverted papilloma skos:exactMatch mesh:D018308 semapv:UnspecifiedMatching MONDO:0002540 childhood oligodendroglioma skos:exactMatch DOID:3183 childhood oligodendroglioma semapv:UnspecifiedMatching MONDO:0002540 childhood oligodendroglioma skos:exactMatch NCIT:C4045 Childhood Oligodendroglioma semapv:UnspecifiedMatching MONDO:0002540 childhood oligodendroglioma skos:exactMatch UMLS:C0280475 semapv:UnspecifiedMatching MONDO:0002541 spinal cord oligodendroglioma skos:exactMatch DOID:3184 spinal cord oligodendroglioma semapv:UnspecifiedMatching MONDO:0002541 spinal cord oligodendroglioma skos:exactMatch NCIT:C4535 Spinal Cord Oligodendroglioma semapv:UnspecifiedMatching MONDO:0002541 spinal cord oligodendroglioma skos:exactMatch SCTID:254950006 semapv:UnspecifiedMatching MONDO:0002541 spinal cord oligodendroglioma skos:exactMatch UMLS:C0346295 semapv:UnspecifiedMatching MONDO:0002542 spinal cord glioma skos:exactMatch DOID:3185 spinal cord glioma semapv:UnspecifiedMatching MONDO:0002542 spinal cord glioma skos:exactMatch NCIT:C4534 Spinal Cord Glioma semapv:UnspecifiedMatching MONDO:0002542 spinal cord glioma skos:exactMatch SCTID:254946004 semapv:UnspecifiedMatching MONDO:0002542 spinal cord glioma skos:exactMatch UMLS:C2937245 semapv:UnspecifiedMatching MONDO:0002543 adult oligodendroglioma skos:exactMatch DOID:3186 adult oligodendroglioma semapv:UnspecifiedMatching MONDO:0002543 adult oligodendroglioma skos:exactMatch NCIT:C4014 Adult Oligodendroglioma semapv:UnspecifiedMatching MONDO:0002543 adult oligodendroglioma skos:exactMatch UMLS:C0279070 semapv:UnspecifiedMatching MONDO:0002544 brain oligodendroglioma skos:exactMatch DOID:3187 brain oligodendroglioma semapv:UnspecifiedMatching MONDO:0002544 brain oligodendroglioma skos:exactMatch NCIT:C9377 Brain Oligodendroglioma semapv:UnspecifiedMatching MONDO:0002544 brain oligodendroglioma skos:exactMatch SCTID:254940005 semapv:UnspecifiedMatching MONDO:0002544 brain oligodendroglioma skos:exactMatch UMLS:C0346286 semapv:UnspecifiedMatching MONDO:0002545 spinal cord disorder skos:exactMatch DOID:319 spinal cord disease semapv:UnspecifiedMatching MONDO:0002545 spinal cord disorder skos:exactMatch NCIT:C97110 Spinal Cord Disorder semapv:UnspecifiedMatching MONDO:0002545 spinal cord disorder skos:exactMatch SCTID:48522003 semapv:UnspecifiedMatching MONDO:0002545 spinal cord disorder skos:exactMatch UMLS:C0037928 semapv:UnspecifiedMatching MONDO:0002545 spinal cord disorder skos:exactMatch mesh:D013118 semapv:UnspecifiedMatching MONDO:0002546 schwannoma skos:exactMatch DOID:3192 neurilemmoma semapv:UnspecifiedMatching MONDO:0002546 schwannoma skos:exactMatch DOID:955 obsolete benign neurilemmoma semapv:UnspecifiedMatching MONDO:0002546 schwannoma skos:exactMatch NCIT:C3269 Schwannoma semapv:UnspecifiedMatching MONDO:0002546 schwannoma skos:exactMatch Orphanet:252164 Benign schwannoma semapv:UnspecifiedMatching MONDO:0002546 schwannoma skos:exactMatch SCTID:404022001 semapv:UnspecifiedMatching MONDO:0002546 schwannoma skos:exactMatch UMLS:C0027809 semapv:UnspecifiedMatching MONDO:0002547 nerve sheath neoplasm skos:exactMatch DOID:3193 peripheral nerve sheath neoplasm semapv:UnspecifiedMatching MONDO:0002547 nerve sheath neoplasm skos:exactMatch NCIT:C4972 Nerve Sheath Neoplasm semapv:UnspecifiedMatching MONDO:0002547 nerve sheath neoplasm skos:exactMatch mesh:D018317 semapv:UnspecifiedMatching MONDO:0002548 cellular schwannoma skos:exactMatch DOID:3196 cellular schwannoma semapv:UnspecifiedMatching MONDO:0002548 cellular schwannoma skos:exactMatch NCIT:C4724 Cellular Schwannoma semapv:UnspecifiedMatching MONDO:0002548 cellular schwannoma skos:exactMatch SCTID:404026003 semapv:UnspecifiedMatching MONDO:0002548 cellular schwannoma skos:exactMatch UMLS:C0431124 semapv:UnspecifiedMatching MONDO:0002549 schwannoma of twelfth cranial nerve skos:exactMatch DOID:3197 schwannoma of twelfth cranial nerve semapv:UnspecifiedMatching MONDO:0002549 schwannoma of twelfth cranial nerve skos:exactMatch NCIT:C5434 Schwannoma of the Twelfth Cranial Nerve semapv:UnspecifiedMatching MONDO:0002549 schwannoma of twelfth cranial nerve skos:exactMatch UMLS:C1335928 semapv:UnspecifiedMatching MONDO:0002550 hypoglossal nerve neoplasm skos:exactMatch DOID:3198 hypoglossal nerve neoplasm semapv:UnspecifiedMatching MONDO:0002550 hypoglossal nerve neoplasm skos:exactMatch NCIT:C5830 Hypoglossal Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002550 hypoglossal nerve neoplasm skos:exactMatch SCTID:126978008 semapv:UnspecifiedMatching MONDO:0002550 hypoglossal nerve neoplasm skos:exactMatch UMLS:C1263903 semapv:UnspecifiedMatching MONDO:0002551 c-P angle neurinoma skos:exactMatch DOID:3199 C-P angle neurinoma semapv:UnspecifiedMatching MONDO:0002551 c-P angle neurinoma skos:exactMatch NCIT:C5413 Cerebellopontine Angle Schwannoma semapv:UnspecifiedMatching MONDO:0002551 c-P angle neurinoma skos:exactMatch UMLS:C1332905 semapv:UnspecifiedMatching MONDO:0002552 vascular myelopathy skos:exactMatch DOID:320 vascular myelopathy semapv:UnspecifiedMatching MONDO:0002552 vascular myelopathy skos:exactMatch ICD10CM:G95.1 Vascular myelopathies semapv:UnspecifiedMatching MONDO:0002552 vascular myelopathy skos:exactMatch SCTID:29774004 semapv:UnspecifiedMatching MONDO:0002552 vascular myelopathy skos:exactMatch UMLS:C0154685 semapv:UnspecifiedMatching MONDO:0002553 cerebellopontine angle tumor skos:exactMatch DOID:3200 cerebellopontine angle tumor semapv:UnspecifiedMatching MONDO:0002553 cerebellopontine angle tumor skos:exactMatch NCIT:C5414 Cerebellopontine Angle Neoplasm semapv:UnspecifiedMatching MONDO:0002553 cerebellopontine angle tumor skos:exactMatch SCTID:126947009 semapv:UnspecifiedMatching MONDO:0002554 sympathetic neurilemmoma skos:exactMatch DOID:3201 sympathetic neurilemmoma semapv:UnspecifiedMatching MONDO:0002554 sympathetic neurilemmoma skos:exactMatch NCIT:C5421 Sympathetic Schwannoma semapv:UnspecifiedMatching MONDO:0002554 sympathetic neurilemmoma skos:exactMatch UMLS:C1336543 semapv:UnspecifiedMatching MONDO:0002555 trigeminal schwannoma skos:exactMatch DOID:3202 neurilemmoma of the fifth cranial nerve semapv:UnspecifiedMatching MONDO:0002555 trigeminal schwannoma skos:exactMatch NCIT:C4655 Trigeminal Schwannoma semapv:UnspecifiedMatching MONDO:0002555 trigeminal schwannoma skos:exactMatch SCTID:277185000 semapv:UnspecifiedMatching MONDO:0002555 trigeminal schwannoma skos:exactMatch UMLS:C0349582 semapv:UnspecifiedMatching MONDO:0002556 microcystic/reticular schwannoma skos:exactMatch NCIT:C5321 Microcystic/Reticular Schwannoma semapv:UnspecifiedMatching MONDO:0002556 microcystic/reticular schwannoma skos:exactMatch UMLS:C4054526 semapv:UnspecifiedMatching MONDO:0002558 melanotic neurilemmoma skos:exactMatch DOID:3205 melanotic neurilemmoma semapv:UnspecifiedMatching MONDO:0002558 melanotic neurilemmoma skos:exactMatch NCIT:C6970 Melanotic Schwannoma semapv:UnspecifiedMatching MONDO:0002558 melanotic neurilemmoma skos:exactMatch SCTID:404024000 semapv:UnspecifiedMatching MONDO:0002558 melanotic neurilemmoma skos:exactMatch UMLS:C1306247 semapv:UnspecifiedMatching MONDO:0002559 plexiform schwannoma skos:exactMatch DOID:3206 plexiform schwannoma semapv:UnspecifiedMatching MONDO:0002559 plexiform schwannoma skos:exactMatch NCIT:C6969 Plexiform Schwannoma semapv:UnspecifiedMatching MONDO:0002559 plexiform schwannoma skos:exactMatch SCTID:404025004 semapv:UnspecifiedMatching MONDO:0002559 plexiform schwannoma skos:exactMatch UMLS:C1370659 semapv:UnspecifiedMatching MONDO:0002561 lysosomal storage disease skos:exactMatch DOID:3211 lysosomal storage disease semapv:UnspecifiedMatching MONDO:0002561 lysosomal storage disease skos:exactMatch NCIT:C61250 Lysosomal Storage Disease semapv:UnspecifiedMatching MONDO:0002561 lysosomal storage disease skos:exactMatch Orphanet:68366 Lysosomal disease semapv:UnspecifiedMatching MONDO:0002561 lysosomal storage disease skos:exactMatch SCTID:23585005 semapv:UnspecifiedMatching MONDO:0002561 lysosomal storage disease skos:exactMatch UMLS:C0085078 semapv:UnspecifiedMatching MONDO:0002561 lysosomal storage disease skos:exactMatch mesh:D016464 semapv:UnspecifiedMatching MONDO:0002562 demyelinating disease skos:exactMatch DOID:3213 demyelinating disease semapv:UnspecifiedMatching MONDO:0002562 demyelinating disease skos:exactMatch NCIT:C34527 Demyelinating Disorder semapv:UnspecifiedMatching MONDO:0002562 demyelinating disease skos:exactMatch UMLS:C0011303 semapv:UnspecifiedMatching MONDO:0002562 demyelinating disease skos:exactMatch mesh:D003711 semapv:UnspecifiedMatching MONDO:0002563 jejunal somatostatinoma skos:exactMatch DOID:3216 jejunal somatostatinoma semapv:UnspecifiedMatching MONDO:0002563 jejunal somatostatinoma skos:exactMatch NCIT:C5787 Jejunal Somatostatin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0002563 jejunal somatostatinoma skos:exactMatch UMLS:C1334297 semapv:UnspecifiedMatching MONDO:0002564 jejunal neoplasm skos:exactMatch DOID:3218 jejunal neoplasm semapv:UnspecifiedMatching MONDO:0002564 jejunal neoplasm skos:exactMatch NCIT:C8401 Jejunal Neoplasm semapv:UnspecifiedMatching MONDO:0002564 jejunal neoplasm skos:exactMatch SCTID:126834003 semapv:UnspecifiedMatching MONDO:0002564 jejunal neoplasm skos:exactMatch UMLS:C0022374 semapv:UnspecifiedMatching MONDO:0002564 jejunal neoplasm skos:exactMatch mesh:D007580 semapv:UnspecifiedMatching MONDO:0002565 myelitis skos:exactMatch DOID:322 myelitis semapv:UnspecifiedMatching MONDO:0002565 myelitis skos:exactMatch NCIT:C26832 Myelitis semapv:UnspecifiedMatching MONDO:0002565 myelitis skos:exactMatch SCTID:41370002 semapv:UnspecifiedMatching MONDO:0002565 myelitis skos:exactMatch UMLS:C0026975 semapv:UnspecifiedMatching MONDO:0002565 myelitis skos:exactMatch mesh:D009187 semapv:UnspecifiedMatching MONDO:0002567 tracheal disorder skos:exactMatch DOID:3225 tracheal disease semapv:UnspecifiedMatching MONDO:0002567 tracheal disorder skos:exactMatch NCIT:C35079 Tracheal Disorder semapv:UnspecifiedMatching MONDO:0002567 tracheal disorder skos:exactMatch SCTID:47125007 semapv:UnspecifiedMatching MONDO:0002567 tracheal disorder skos:exactMatch UMLS:C4025678 semapv:UnspecifiedMatching MONDO:0002567 tracheal disorder skos:exactMatch mesh:D014133 semapv:UnspecifiedMatching MONDO:0002568 tracheal stenosis skos:exactMatch DOID:3227 tracheal stenosis semapv:UnspecifiedMatching MONDO:0002568 tracheal stenosis skos:exactMatch NCIT:C78646 Tracheal Stenosis semapv:UnspecifiedMatching MONDO:0002568 tracheal stenosis skos:exactMatch SCTID:11296007 semapv:UnspecifiedMatching MONDO:0002568 tracheal stenosis skos:exactMatch UMLS:C0040583 semapv:UnspecifiedMatching MONDO:0002568 tracheal stenosis skos:exactMatch mesh:D014135 semapv:UnspecifiedMatching MONDO:0002569 gastric dilatation skos:exactMatch DOID:3229 gastric dilatation semapv:UnspecifiedMatching MONDO:0002569 gastric dilatation skos:exactMatch UMLS:C0038353 semapv:UnspecifiedMatching MONDO:0002569 gastric dilatation skos:exactMatch mesh:D013271 semapv:UnspecifiedMatching MONDO:0002570 high pressure neurological syndrome skos:exactMatch DOID:3230 high pressure neurological syndrome semapv:UnspecifiedMatching MONDO:0002570 high pressure neurological syndrome skos:exactMatch UMLS:C0019537 semapv:UnspecifiedMatching MONDO:0002570 high pressure neurological syndrome skos:exactMatch mesh:D006610 semapv:UnspecifiedMatching MONDO:0002571 primary central nervous system lymphoma skos:exactMatch DOID:3234 central nervous system lymphoma semapv:UnspecifiedMatching MONDO:0002571 primary central nervous system lymphoma skos:exactMatch NCIT:C9301 Central Nervous System Lymphoma semapv:UnspecifiedMatching MONDO:0002571 primary central nervous system lymphoma skos:exactMatch Orphanet:46135 Primary central nervous system lymphoma semapv:UnspecifiedMatching MONDO:0002571 primary central nervous system lymphoma skos:exactMatch SCTID:307649006 semapv:UnspecifiedMatching MONDO:0002572 aspiration pneumonitis skos:exactMatch DOID:3240 aspiration pneumonitis semapv:UnspecifiedMatching MONDO:0002572 aspiration pneumonitis skos:exactMatch NCIT:C34932 Aspiration Pneumonitis semapv:UnspecifiedMatching MONDO:0002572 aspiration pneumonitis skos:exactMatch SCTID:155597006 semapv:UnspecifiedMatching MONDO:0002572 aspiration pneumonitis skos:exactMatch UMLS:C1761609 semapv:UnspecifiedMatching MONDO:0002574 prostate embryonal rhabdomyosarcoma skos:exactMatch DOID:3251 prostate embryonal rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002574 prostate embryonal rhabdomyosarcoma skos:exactMatch NCIT:C5525 Prostate Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002574 prostate embryonal rhabdomyosarcoma skos:exactMatch UMLS:C1335508 semapv:UnspecifiedMatching MONDO:0002576 embryonal extrahepatic bile duct rhabdomyosarcoma skos:exactMatch DOID:3253 embryonal extrahepatic bile duct rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002576 embryonal extrahepatic bile duct rhabdomyosarcoma skos:exactMatch NCIT:C5847 Extrahepatic Bile Duct Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002576 embryonal extrahepatic bile duct rhabdomyosarcoma skos:exactMatch UMLS:C1333505 semapv:UnspecifiedMatching MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma skos:exactMatch DOID:3254 bile duct rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma skos:exactMatch NCIT:C5860 Extrahepatic Bile Duct Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma skos:exactMatch UMLS:C2064434 semapv:UnspecifiedMatching MONDO:0002578 botryoid rhabdomyosarcoma skos:exactMatch DOID:3255 botryoid rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002578 botryoid rhabdomyosarcoma skos:exactMatch NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002578 botryoid rhabdomyosarcoma skos:exactMatch SCTID:404052009 semapv:UnspecifiedMatching MONDO:0002578 botryoid rhabdomyosarcoma skos:exactMatch UMLS:C1306574 semapv:UnspecifiedMatching MONDO:0002579 orbit embryonal rhabdomyosarcoma skos:exactMatch DOID:3258 orbit embryonal rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002579 orbit embryonal rhabdomyosarcoma skos:exactMatch NCIT:C6246 Orbit Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002579 orbit embryonal rhabdomyosarcoma skos:exactMatch UMLS:C1335127 semapv:UnspecifiedMatching MONDO:0002580 orbit rhabdomyosarcoma skos:exactMatch DOID:3259 orbit rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002580 orbit rhabdomyosarcoma skos:exactMatch NCIT:C4543 Orbit Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002580 orbit rhabdomyosarcoma skos:exactMatch SCTID:254994000 semapv:UnspecifiedMatching MONDO:0002580 orbit rhabdomyosarcoma skos:exactMatch UMLS:C0346347 semapv:UnspecifiedMatching MONDO:0002580 orbit rhabdomyosarcoma skos:exactMatch mesh:C537605 semapv:UnspecifiedMatching MONDO:0002581 spindle cell rhabdomyosarcoma skos:exactMatch DOID:3260 spindle cell rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002581 spindle cell rhabdomyosarcoma skos:exactMatch NCIT:C6519 Spindle Cell Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002581 spindle cell rhabdomyosarcoma skos:exactMatch SCTID:404055006 semapv:UnspecifiedMatching MONDO:0002581 spindle cell rhabdomyosarcoma skos:exactMatch UMLS:C1266134 semapv:UnspecifiedMatching MONDO:0002582 subacute leukemia skos:exactMatch DOID:3264 subacute leukemia semapv:UnspecifiedMatching MONDO:0002582 subacute leukemia skos:exactMatch SCTID:302855005 semapv:UnspecifiedMatching MONDO:0002582 subacute leukemia skos:exactMatch UMLS:C0153924 semapv:UnspecifiedMatching MONDO:0002583 mucinous ovarian cystadenoma skos:exactMatch DOID:3267 mucinous ovarian cystadenoma semapv:UnspecifiedMatching MONDO:0002583 mucinous ovarian cystadenoma skos:exactMatch NCIT:C4512 Ovarian Mucinous Cystadenoma semapv:UnspecifiedMatching MONDO:0002583 mucinous ovarian cystadenoma skos:exactMatch SCTID:119422004 semapv:UnspecifiedMatching MONDO:0002583 mucinous ovarian cystadenoma skos:exactMatch UMLS:C0346172 semapv:UnspecifiedMatching MONDO:0002585 breast fibrocystic change, proliferative type skos:exactMatch DOID:3274 proliferative type fibrocystic change of breast semapv:UnspecifiedMatching MONDO:0002585 breast fibrocystic change, proliferative type skos:exactMatch NCIT:C6940 Breast Fibrocystic Change, Proliferative Type semapv:UnspecifiedMatching MONDO:0002585 breast fibrocystic change, proliferative type skos:exactMatch UMLS:C1332629 semapv:UnspecifiedMatching MONDO:0002586 thymus cancer skos:exactMatch DOID:3277 thymus cancer semapv:UnspecifiedMatching MONDO:0002586 thymus cancer skos:exactMatch NCIT:C4962 Malignant Thymus Neoplasm semapv:UnspecifiedMatching MONDO:0002586 thymus cancer skos:exactMatch SCTID:363434003 semapv:UnspecifiedMatching MONDO:0002586 thymus cancer skos:exactMatch UMLS:C0751552 semapv:UnspecifiedMatching MONDO:0002587 encapsulated thymoma skos:exactMatch DOID:3278 encapsulated thymoma semapv:UnspecifiedMatching MONDO:0002587 encapsulated thymoma skos:exactMatch NCIT:C7386 Encapsulated Thymoma semapv:UnspecifiedMatching MONDO:0002587 encapsulated thymoma skos:exactMatch UMLS:C1333383 semapv:UnspecifiedMatching MONDO:0002588 thymoma type A skos:exactMatch DOID:3279 spindle cell thymoma semapv:UnspecifiedMatching MONDO:0002588 thymoma type A skos:exactMatch NCIT:C6454 Thymoma Type A semapv:UnspecifiedMatching MONDO:0002588 thymoma type A skos:exactMatch Orphanet:263310 Thymoma type A semapv:UnspecifiedMatching MONDO:0002588 thymoma type A skos:exactMatch UMLS:C1266091 semapv:UnspecifiedMatching MONDO:0002590 combined thymoma skos:exactMatch DOID:3281 combined thymoma semapv:UnspecifiedMatching MONDO:0002592 invasive malignant thymoma skos:exactMatch DOID:3283 invasive malignant thymoma semapv:UnspecifiedMatching MONDO:0002592 invasive malignant thymoma skos:exactMatch NCIT:C7904 Invasive Malignant Thymoma semapv:UnspecifiedMatching MONDO:0002592 invasive malignant thymoma skos:exactMatch UMLS:C0278846 semapv:UnspecifiedMatching MONDO:0002594 monkeypox skos:exactMatch DOID:3292 mpox semapv:UnspecifiedMatching MONDO:0002594 monkeypox skos:exactMatch ICD10CM:B04 Monkeypox semapv:UnspecifiedMatching MONDO:0002594 monkeypox skos:exactMatch NCIT:C128421 Monkeypox semapv:UnspecifiedMatching MONDO:0002594 monkeypox skos:exactMatch SCTID:359814004 semapv:UnspecifiedMatching MONDO:0002594 monkeypox skos:exactMatch UMLS:C0276180 semapv:UnspecifiedMatching MONDO:0002594 monkeypox skos:exactMatch mesh:D045908 semapv:UnspecifiedMatching MONDO:0002595 vaccinia skos:exactMatch DOID:3298 vaccinia semapv:UnspecifiedMatching MONDO:0002595 vaccinia skos:exactMatch SCTID:111852003 semapv:UnspecifiedMatching MONDO:0002595 vaccinia skos:exactMatch UMLS:C0042214 semapv:UnspecifiedMatching MONDO:0002595 vaccinia skos:exactMatch mesh:D014615 semapv:UnspecifiedMatching MONDO:0002597 notochordal tumor skos:exactMatch DOID:3303 notochordal cancer semapv:UnspecifiedMatching MONDO:0002597 notochordal tumor skos:exactMatch NCIT:C7063 Notochordal Tumor semapv:UnspecifiedMatching MONDO:0002597 notochordal tumor skos:exactMatch UMLS:C1335069 semapv:UnspecifiedMatching MONDO:0002598 germinoma skos:exactMatch DOID:3304 germinoma semapv:UnspecifiedMatching MONDO:0002598 germinoma skos:exactMatch UMLS:C0206660 semapv:UnspecifiedMatching MONDO:0002598 germinoma skos:exactMatch mesh:D018237 semapv:UnspecifiedMatching MONDO:0002599 teratocarcinoma skos:exactMatch DOID:3305 teratocarcinoma semapv:UnspecifiedMatching MONDO:0002599 teratocarcinoma skos:exactMatch NCIT:C3756 Mixed Embryonal Carcinoma and Teratoma semapv:UnspecifiedMatching MONDO:0002599 teratocarcinoma skos:exactMatch UMLS:C0206664 semapv:UnspecifiedMatching MONDO:0002599 teratocarcinoma skos:exactMatch mesh:D018243 semapv:UnspecifiedMatching MONDO:0002601 teratoma skos:exactMatch DOID:3307 teratoma semapv:UnspecifiedMatching MONDO:0002601 teratoma skos:exactMatch NCIT:C3403 Teratoma semapv:UnspecifiedMatching MONDO:0002601 teratoma skos:exactMatch SCTID:36591000119102 semapv:UnspecifiedMatching MONDO:0002601 teratoma skos:exactMatch mesh:D013724 semapv:UnspecifiedMatching MONDO:0002602 central nervous system disorder skos:exactMatch DOID:331 central nervous system disease semapv:UnspecifiedMatching MONDO:0002602 central nervous system disorder skos:exactMatch NCIT:C2934 Central Nervous System Disorder semapv:UnspecifiedMatching MONDO:0002602 central nervous system disorder skos:exactMatch SCTID:23853001 semapv:UnspecifiedMatching MONDO:0002602 central nervous system disorder skos:exactMatch UMLS:C4021765 semapv:UnspecifiedMatching MONDO:0002602 central nervous system disorder skos:exactMatch mesh:D002493 semapv:UnspecifiedMatching MONDO:0002603 angiomyolipoma skos:exactMatch DOID:3314 angiomyolipoma semapv:UnspecifiedMatching MONDO:0002603 angiomyolipoma skos:exactMatch NCIT:C3734 Angiomyolipoma semapv:UnspecifiedMatching MONDO:0002603 angiomyolipoma skos:exactMatch UMLS:C0206633 semapv:UnspecifiedMatching MONDO:0002603 angiomyolipoma skos:exactMatch mesh:D018207 semapv:UnspecifiedMatching MONDO:0002604 pericytic neoplasm skos:exactMatch DOID:3316 perivascular tumor semapv:UnspecifiedMatching MONDO:0002604 pericytic neoplasm skos:exactMatch NCIT:C6528 Pericytic Neoplasm semapv:UnspecifiedMatching MONDO:0002604 pericytic neoplasm skos:exactMatch UMLS:C1335392 semapv:UnspecifiedMatching MONDO:0002605 hepatic angiomyolipoma skos:exactMatch DOID:3317 hepatic angiomyolipoma semapv:UnspecifiedMatching MONDO:0002605 hepatic angiomyolipoma skos:exactMatch NCIT:C27485 Liver Angiomyolipoma semapv:UnspecifiedMatching MONDO:0002605 hepatic angiomyolipoma skos:exactMatch UMLS:C1333962 semapv:UnspecifiedMatching MONDO:0002606 epithelioid type angiomyolipoma skos:exactMatch DOID:3318 epithelioid type angiomyolipoma semapv:UnspecifiedMatching MONDO:0002606 epithelioid type angiomyolipoma skos:exactMatch NCIT:C38151 Epithelioid Angiomyolipoma semapv:UnspecifiedMatching MONDO:0002610 purpura skos:exactMatch DOID:3326 purpura semapv:UnspecifiedMatching MONDO:0002610 purpura skos:exactMatch SCTID:387778001 semapv:UnspecifiedMatching MONDO:0002610 purpura skos:exactMatch UMLS:C0034150 semapv:UnspecifiedMatching MONDO:0002610 purpura skos:exactMatch mesh:D011693 semapv:UnspecifiedMatching MONDO:0002612 frontal lobe epilepsy skos:exactMatch DOID:3331 frontal lobe epilepsy semapv:UnspecifiedMatching MONDO:0002612 frontal lobe epilepsy skos:exactMatch SCTID:230394006 semapv:UnspecifiedMatching MONDO:0002612 frontal lobe epilepsy skos:exactMatch UMLS:C0085541 semapv:UnspecifiedMatching MONDO:0002612 frontal lobe epilepsy skos:exactMatch mesh:D017034 semapv:UnspecifiedMatching MONDO:0002613 histrionic personality disorder skos:exactMatch DOID:334 histrionic personality disorder semapv:UnspecifiedMatching MONDO:0002613 histrionic personality disorder skos:exactMatch ICD10CM:F60.4 Histrionic personality disorder semapv:UnspecifiedMatching MONDO:0002613 histrionic personality disorder skos:exactMatch NCIT:C92634 Histrionic Personality Disorder semapv:UnspecifiedMatching MONDO:0002613 histrionic personality disorder skos:exactMatch SCTID:55341008 semapv:UnspecifiedMatching MONDO:0002613 histrionic personality disorder skos:exactMatch mesh:D006677 semapv:UnspecifiedMatching MONDO:0002614 bone inflammation disease skos:exactMatch DOID:3342 bone inflammation disease semapv:UnspecifiedMatching MONDO:0002614 bone inflammation disease skos:exactMatch SCTID:274144001 semapv:UnspecifiedMatching MONDO:0002614 bone inflammation disease skos:exactMatch UMLS:C0029400 semapv:UnspecifiedMatching MONDO:0002614 bone inflammation disease skos:exactMatch mesh:D010000 semapv:UnspecifiedMatching MONDO:0002615 xanthomatosis skos:exactMatch DOID:3345 xanthomatosis semapv:UnspecifiedMatching MONDO:0002615 xanthomatosis skos:exactMatch SCTID:63103006 semapv:UnspecifiedMatching MONDO:0002615 xanthomatosis skos:exactMatch UMLS:C0043325 semapv:UnspecifiedMatching MONDO:0002615 xanthomatosis skos:exactMatch mesh:D014973 semapv:UnspecifiedMatching MONDO:0002616 mesenchymal cell neoplasm skos:exactMatch DOID:3350 mesenchymal cell neoplasm semapv:UnspecifiedMatching MONDO:0002616 mesenchymal cell neoplasm skos:exactMatch NCIT:C7059 Mesenchymal Cell Neoplasm semapv:UnspecifiedMatching MONDO:0002616 mesenchymal cell neoplasm skos:exactMatch UMLS:C1334699 semapv:UnspecifiedMatching MONDO:0002617 bone angiosarcoma skos:exactMatch DOID:3351 bone angioendothelial sarcoma semapv:UnspecifiedMatching MONDO:0002617 bone angiosarcoma skos:exactMatch NCIT:C6479 Bone Angiosarcoma semapv:UnspecifiedMatching MONDO:0002617 bone angiosarcoma skos:exactMatch UMLS:C1332574 semapv:UnspecifiedMatching MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone skos:exactMatch DOID:3352 malignant fibrous histiocytoma of bone semapv:UnspecifiedMatching MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone skos:exactMatch NCIT:C8563 Undifferentiated High Grade Pleomorphic Sarcoma of Bone semapv:UnspecifiedMatching MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone skos:exactMatch UMLS:C0740479 semapv:UnspecifiedMatching MONDO:0002619 bone fibrosarcoma skos:exactMatch DOID:3354 fibrosarcoma of bone semapv:UnspecifiedMatching MONDO:0002619 bone fibrosarcoma skos:exactMatch NCIT:C6604 Bone Fibrosarcoma semapv:UnspecifiedMatching MONDO:0002619 bone fibrosarcoma skos:exactMatch UMLS:C2733623 semapv:UnspecifiedMatching MONDO:0002620 localized osteosarcoma skos:exactMatch DOID:3356 localized osteosarcoma semapv:UnspecifiedMatching MONDO:0002620 localized osteosarcoma skos:exactMatch NCIT:C7780 Localized Osteosarcoma semapv:UnspecifiedMatching MONDO:0002620 localized osteosarcoma skos:exactMatch UMLS:C0278511 semapv:UnspecifiedMatching MONDO:0002621 extraosseous osteosarcoma skos:exactMatch DOID:3357 extraosseous osteosarcoma semapv:UnspecifiedMatching MONDO:0002621 extraosseous osteosarcoma skos:exactMatch NCIT:C8810 Extraskeletal Osteosarcoma semapv:UnspecifiedMatching MONDO:0002621 extraosseous osteosarcoma skos:exactMatch SCTID:404077005 semapv:UnspecifiedMatching MONDO:0002621 extraosseous osteosarcoma skos:exactMatch UMLS:C0855052 semapv:UnspecifiedMatching MONDO:0002622 multifocal osteogenic sarcoma skos:exactMatch DOID:3360 multifocal osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0002622 multifocal osteogenic sarcoma skos:exactMatch NCIT:C6470 Multifocal Osteosarcoma semapv:UnspecifiedMatching MONDO:0002622 multifocal osteogenic sarcoma skos:exactMatch UMLS:C1334820 semapv:UnspecifiedMatching MONDO:0002623 pediatric osteosarcoma skos:exactMatch DOID:3361 childhood osteosarcoma semapv:UnspecifiedMatching MONDO:0002623 pediatric osteosarcoma skos:exactMatch NCIT:C6585 Childhood Osteosarcoma semapv:UnspecifiedMatching MONDO:0002623 pediatric osteosarcoma skos:exactMatch UMLS:C1332986 semapv:UnspecifiedMatching MONDO:0002624 bone leiomyosarcoma skos:exactMatch DOID:3367 bone leiomyosarcoma semapv:UnspecifiedMatching MONDO:0002624 bone leiomyosarcoma skos:exactMatch NCIT:C7154 Bone Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0002624 bone leiomyosarcoma skos:exactMatch UMLS:C1332579 semapv:UnspecifiedMatching MONDO:0002625 Ewing sarcoma of bone skos:exactMatch DOID:3368 Ewing sarcoma of bone semapv:UnspecifiedMatching MONDO:0002625 Ewing sarcoma of bone skos:exactMatch NCIT:C4835 Ewing Sarcoma of Bone semapv:UnspecifiedMatching MONDO:0002625 Ewing sarcoma of bone skos:exactMatch SCTID:307608006 semapv:UnspecifiedMatching MONDO:0002625 Ewing sarcoma of bone skos:exactMatch UMLS:C0585474 semapv:UnspecifiedMatching MONDO:0002626 spinal accessory nerve neoplasm skos:exactMatch DOID:337 spinal accessory nerve neoplasm semapv:UnspecifiedMatching MONDO:0002626 spinal accessory nerve neoplasm skos:exactMatch NCIT:C5829 Accessory Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002626 spinal accessory nerve neoplasm skos:exactMatch SCTID:126977003 semapv:UnspecifiedMatching MONDO:0002626 spinal accessory nerve neoplasm skos:exactMatch UMLS:C1263902 semapv:UnspecifiedMatching MONDO:0002627 chondroblastic osteosarcoma skos:exactMatch DOID:3372 chondroblastic osteosarcoma semapv:UnspecifiedMatching MONDO:0002627 chondroblastic osteosarcoma skos:exactMatch NCIT:C4021 Chondroblastic Osteosarcoma semapv:UnspecifiedMatching MONDO:0002627 chondroblastic osteosarcoma skos:exactMatch UMLS:C0279603 semapv:UnspecifiedMatching MONDO:0002628 peripheral osteosarcoma skos:exactMatch DOID:3374 peripheral osteosarcoma semapv:UnspecifiedMatching MONDO:0002628 peripheral osteosarcoma skos:exactMatch NCIT:C7134 Bone Surface (Peripheral) Osteosarcoma semapv:UnspecifiedMatching MONDO:0002628 peripheral osteosarcoma skos:exactMatch UMLS:C1332591 semapv:UnspecifiedMatching MONDO:0002629 bone osteosarcoma skos:exactMatch DOID:3376 bone osteosarcoma semapv:UnspecifiedMatching MONDO:0002629 bone osteosarcoma skos:exactMatch NCIT:C53707 Bone Osteosarcoma semapv:UnspecifiedMatching MONDO:0002629 bone osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0002629 bone osteosarcoma skos:exactMatch Orphanet:668 Osteosarcoma semapv:UnspecifiedMatching MONDO:0002629 bone osteosarcoma skos:exactMatch SCTID:307576001 semapv:UnspecifiedMatching MONDO:0002630 small cell osteogenic sarcoma skos:exactMatch DOID:3377 small cell osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0002630 small cell osteogenic sarcoma skos:exactMatch NCIT:C4023 Small Cell Osteosarcoma semapv:UnspecifiedMatching MONDO:0002630 small cell osteogenic sarcoma skos:exactMatch UMLS:C0279622 semapv:UnspecifiedMatching MONDO:0002631 conventional osteosarcoma skos:exactMatch DOID:7602 conventional osteosarcoma semapv:UnspecifiedMatching MONDO:0002631 conventional osteosarcoma skos:exactMatch NCIT:C35870 Conventional Osteosarcoma semapv:UnspecifiedMatching MONDO:0002631 conventional osteosarcoma skos:exactMatch UMLS:C1266166 semapv:UnspecifiedMatching MONDO:0002632 metachronous osteosarcoma of the bone skos:exactMatch DOID:3379 metachronous osteosarcoma of the bone semapv:UnspecifiedMatching MONDO:0002632 metachronous osteosarcoma of the bone skos:exactMatch NCIT:C38157 Metachronous Osteosarcoma semapv:UnspecifiedMatching MONDO:0002632 metachronous osteosarcoma of the bone skos:exactMatch UMLS:C1334704 semapv:UnspecifiedMatching MONDO:0002633 cranial nerve neoplasm skos:exactMatch NCIT:C2963 Cranial Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002633 cranial nerve neoplasm skos:exactMatch SCTID:126966009 semapv:UnspecifiedMatching MONDO:0002633 cranial nerve neoplasm skos:exactMatch UMLS:C0010267 semapv:UnspecifiedMatching MONDO:0002633 cranial nerve neoplasm skos:exactMatch mesh:D003390 semapv:UnspecifiedMatching MONDO:0002634 liposarcoma of bone skos:exactMatch DOID:3381 liposarcoma of bone semapv:UnspecifiedMatching MONDO:0002634 liposarcoma of bone skos:exactMatch NCIT:C7598 Bone Liposarcoma semapv:UnspecifiedMatching MONDO:0002634 liposarcoma of bone skos:exactMatch UMLS:C1332581 semapv:UnspecifiedMatching MONDO:0002635 periodontal disorder skos:exactMatch DOID:3388 periodontal disease semapv:UnspecifiedMatching MONDO:0002635 periodontal disorder skos:exactMatch NCIT:C63743 Periodontal Disorder semapv:UnspecifiedMatching MONDO:0002635 periodontal disorder skos:exactMatch SCTID:2556008 semapv:UnspecifiedMatching MONDO:0002635 periodontal disorder skos:exactMatch UMLS:C0031090 semapv:UnspecifiedMatching MONDO:0002635 periodontal disorder skos:exactMatch mesh:D010510 semapv:UnspecifiedMatching MONDO:0002636 accessory nerve disorder skos:exactMatch DOID:339 accessory nerve disease semapv:UnspecifiedMatching MONDO:0002636 accessory nerve disorder skos:exactMatch NCIT:C26953 Accessory Nerve Disorder semapv:UnspecifiedMatching MONDO:0002636 accessory nerve disorder skos:exactMatch SCTID:84759007 semapv:UnspecifiedMatching MONDO:0002636 accessory nerve disorder skos:exactMatch UMLS:C0152180 semapv:UnspecifiedMatching MONDO:0002636 accessory nerve disorder skos:exactMatch mesh:D020436 semapv:UnspecifiedMatching MONDO:0002637 histiocytosis skos:exactMatch DOID:3405 histiocytosis semapv:UnspecifiedMatching MONDO:0002637 histiocytosis skos:exactMatch NCIT:C3106 Histiocytosis semapv:UnspecifiedMatching MONDO:0002637 histiocytosis skos:exactMatch UMLS:C0019618 semapv:UnspecifiedMatching MONDO:0002637 histiocytosis skos:exactMatch mesh:D015614 semapv:UnspecifiedMatching MONDO:0002638 glossopharyngeal nerve neoplasm skos:exactMatch DOID:3417 glossopharyngeal nerve neoplasm semapv:UnspecifiedMatching MONDO:0002638 glossopharyngeal nerve neoplasm skos:exactMatch NCIT:C5828 Glossopharyngeal Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002638 glossopharyngeal nerve neoplasm skos:exactMatch SCTID:126975006 semapv:UnspecifiedMatching MONDO:0002638 glossopharyngeal nerve neoplasm skos:exactMatch UMLS:C1263900 semapv:UnspecifiedMatching MONDO:0002639 glossopharyngeal nerve disorder skos:exactMatch DOID:3418 glossopharyngeal nerve disease semapv:UnspecifiedMatching MONDO:0002639 glossopharyngeal nerve disorder skos:exactMatch NCIT:C27211 Glossopharyngeal Nerve Disorder semapv:UnspecifiedMatching MONDO:0002639 glossopharyngeal nerve disorder skos:exactMatch SCTID:80962007 semapv:UnspecifiedMatching MONDO:0002639 glossopharyngeal nerve disorder skos:exactMatch UMLS:C0751941 semapv:UnspecifiedMatching MONDO:0002640 optic nerve neoplasm skos:exactMatch DOID:3419 optic nerve neoplasm semapv:UnspecifiedMatching MONDO:0002640 optic nerve neoplasm skos:exactMatch NCIT:C4801 Optic Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002640 optic nerve neoplasm skos:exactMatch SCTID:395505000 semapv:UnspecifiedMatching MONDO:0002640 optic nerve neoplasm skos:exactMatch UMLS:C0524802 semapv:UnspecifiedMatching MONDO:0002640 optic nerve neoplasm skos:exactMatch mesh:D019574 semapv:UnspecifiedMatching MONDO:0002641 subclavian artery aneurysm skos:exactMatch DOID:342 subclavian artery aneurysm semapv:UnspecifiedMatching MONDO:0002641 subclavian artery aneurysm skos:exactMatch SCTID:40136003 semapv:UnspecifiedMatching MONDO:0002641 subclavian artery aneurysm skos:exactMatch UMLS:C0155746 semapv:UnspecifiedMatching MONDO:0002642 trochlear nerve neoplasm skos:exactMatch DOID:3421 trochlear nerve neoplasm semapv:UnspecifiedMatching MONDO:0002642 trochlear nerve neoplasm skos:exactMatch NCIT:C5825 Trochlear Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002642 trochlear nerve neoplasm skos:exactMatch SCTID:126970001 semapv:UnspecifiedMatching MONDO:0002642 trochlear nerve neoplasm skos:exactMatch UMLS:C1263896 semapv:UnspecifiedMatching MONDO:0002643 vestibular disorder skos:exactMatch DOID:3426 vestibular disease semapv:UnspecifiedMatching MONDO:0002643 vestibular disorder skos:exactMatch UMLS:C0042594 semapv:UnspecifiedMatching MONDO:0002643 vestibular disorder skos:exactMatch mesh:D015837 semapv:UnspecifiedMatching MONDO:0002644 idiopathic granulomatous myositis skos:exactMatch DOID:3428 granulomatous myositis semapv:UnspecifiedMatching MONDO:0002644 idiopathic granulomatous myositis skos:exactMatch NCIT:C27575 Idiopathic Granulomatous Myositis semapv:UnspecifiedMatching MONDO:0002644 idiopathic granulomatous myositis skos:exactMatch UMLS:C1334150 semapv:UnspecifiedMatching MONDO:0002645 cerebritis skos:exactMatch DOID:3431 cerebritis semapv:UnspecifiedMatching MONDO:0002645 cerebritis skos:exactMatch NCIT:C27199 Cerebritis semapv:UnspecifiedMatching MONDO:0002645 cerebritis skos:exactMatch UMLS:C0742115 semapv:UnspecifiedMatching MONDO:0002646 viral laryngitis skos:exactMatch DOID:3436 viral laryngitis semapv:UnspecifiedMatching MONDO:0002646 viral laryngitis skos:exactMatch NCIT:C27305 Viral Laryngitis semapv:UnspecifiedMatching MONDO:0002646 viral laryngitis skos:exactMatch SCTID:441551009 semapv:UnspecifiedMatching MONDO:0002646 viral laryngitis skos:exactMatch UMLS:C0853195 semapv:UnspecifiedMatching MONDO:0002647 laryngitis skos:exactMatch DOID:3437 laryngitis semapv:UnspecifiedMatching MONDO:0002647 laryngitis skos:exactMatch NCIT:C26811 Laryngitis semapv:UnspecifiedMatching MONDO:0002647 laryngitis skos:exactMatch SCTID:45913009 semapv:UnspecifiedMatching MONDO:0002647 laryngitis skos:exactMatch UMLS:C0023067 semapv:UnspecifiedMatching MONDO:0002647 laryngitis skos:exactMatch mesh:D007827 semapv:UnspecifiedMatching MONDO:0002648 mammary Paget disease skos:exactMatch DOID:3443 mammary Paget's disease semapv:UnspecifiedMatching MONDO:0002648 mammary Paget disease skos:exactMatch NCIT:C47857 Breast Paget Disease semapv:UnspecifiedMatching MONDO:0002648 mammary Paget disease skos:exactMatch UMLS:C0030185 semapv:UnspecifiedMatching MONDO:0002648 mammary Paget disease skos:exactMatch mesh:D010144 semapv:UnspecifiedMatching MONDO:0002649 scrotum Paget disease skos:exactMatch DOID:3444 scrotum Paget's disease semapv:UnspecifiedMatching MONDO:0002649 scrotum Paget disease skos:exactMatch NCIT:C7728 Scrotal Paget Disease semapv:UnspecifiedMatching MONDO:0002649 scrotum Paget disease skos:exactMatch UMLS:C0238330 semapv:UnspecifiedMatching MONDO:0002650 scrotal carcinoma skos:exactMatch DOID:3445 scrotal carcinoma semapv:UnspecifiedMatching MONDO:0002650 scrotal carcinoma skos:exactMatch NCIT:C6389 Scrotal Carcinoma semapv:UnspecifiedMatching MONDO:0002650 scrotal carcinoma skos:exactMatch UMLS:C1370468 semapv:UnspecifiedMatching MONDO:0002651 anal Paget disease skos:exactMatch DOID:3446 anal Paget's disease semapv:UnspecifiedMatching MONDO:0002651 anal Paget disease skos:exactMatch NCIT:C5598 Anal Paget Disease semapv:UnspecifiedMatching MONDO:0002651 anal Paget disease skos:exactMatch UMLS:C1332274 semapv:UnspecifiedMatching MONDO:0002652 anus adenocarcinoma skos:exactMatch DOID:3447 anus adenocarcinoma semapv:UnspecifiedMatching MONDO:0002652 anus adenocarcinoma skos:exactMatch NCIT:C5600 Anal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002652 anus adenocarcinoma skos:exactMatch SCTID:423607006 semapv:UnspecifiedMatching MONDO:0002652 anus adenocarcinoma skos:exactMatch UMLS:C1332257 semapv:UnspecifiedMatching MONDO:0002653 Paget disease of the penis skos:exactMatch DOID:3448 penis Paget's disease semapv:UnspecifiedMatching MONDO:0002653 Paget disease of the penis skos:exactMatch NCIT:C27817 Penile Paget Disease semapv:UnspecifiedMatching MONDO:0002653 Paget disease of the penis skos:exactMatch Orphanet:398053 Adenocarcinoma of the penis semapv:UnspecifiedMatching MONDO:0002653 Paget disease of the penis skos:exactMatch SCTID:398768004 semapv:UnspecifiedMatching MONDO:0002653 Paget disease of the penis skos:exactMatch UMLS:C0221286 semapv:UnspecifiedMatching MONDO:0002654 uterine disorder skos:exactMatch DOID:345 uterine disease semapv:UnspecifiedMatching MONDO:0002654 uterine disorder skos:exactMatch NCIT:C26907 Uterine Disorder semapv:UnspecifiedMatching MONDO:0002654 uterine disorder skos:exactMatch SCTID:12337004 semapv:UnspecifiedMatching MONDO:0002654 uterine disorder skos:exactMatch UMLS:C0042131 semapv:UnspecifiedMatching MONDO:0002654 uterine disorder skos:exactMatch mesh:D014591 semapv:UnspecifiedMatching MONDO:0002655 cutaneous Paget disease skos:exactMatch DOID:3450 cutaneous Paget's disease semapv:UnspecifiedMatching MONDO:0002656 skin carcinoma skos:exactMatch DOID:3451 skin carcinoma semapv:UnspecifiedMatching MONDO:0002656 skin carcinoma skos:exactMatch NCIT:C4914 Skin Carcinoma semapv:UnspecifiedMatching MONDO:0002656 skin carcinoma skos:exactMatch UMLS:C0699893 semapv:UnspecifiedMatching MONDO:0002657 breast disorder skos:exactMatch DOID:3463 breast disease semapv:UnspecifiedMatching MONDO:0002657 breast disorder skos:exactMatch ICD10CM:N60-N65 Disorders of breast (N60-N65) semapv:UnspecifiedMatching MONDO:0002657 breast disorder skos:exactMatch NCIT:C26709 Breast Disorder semapv:UnspecifiedMatching MONDO:0002657 breast disorder skos:exactMatch SCTID:79604008 semapv:UnspecifiedMatching MONDO:0002657 breast disorder skos:exactMatch UMLS:C0006145 semapv:UnspecifiedMatching MONDO:0002657 breast disorder skos:exactMatch mesh:D001941 semapv:UnspecifiedMatching MONDO:0002658 iris cancer skos:exactMatch DOID:3478 iris cancer semapv:UnspecifiedMatching MONDO:0002658 iris cancer skos:exactMatch NCIT:C4554 Malignant Iris Neoplasm semapv:UnspecifiedMatching MONDO:0002658 iris cancer skos:exactMatch SCTID:188264002 semapv:UnspecifiedMatching MONDO:0002658 iris cancer skos:exactMatch UMLS:C0346372 semapv:UnspecifiedMatching MONDO:0002659 uveal cancer skos:exactMatch DOID:3479 uveal cancer semapv:UnspecifiedMatching MONDO:0002659 uveal cancer skos:exactMatch NCIT:C6105 Malignant Uveal Neoplasm semapv:UnspecifiedMatching MONDO:0002659 uveal cancer skos:exactMatch UMLS:C3665670 semapv:UnspecifiedMatching MONDO:0002660 blepharochalasis skos:exactMatch DOID:348 blepharochalasis semapv:UnspecifiedMatching MONDO:0002660 blepharochalasis skos:exactMatch ICD10CM:H02.3 Blepharochalasis semapv:UnspecifiedMatching MONDO:0002660 blepharochalasis skos:exactMatch SCTID:47704002 semapv:UnspecifiedMatching MONDO:0002660 blepharochalasis skos:exactMatch UMLS:C0005742 semapv:UnspecifiedMatching MONDO:0002661 uveal disorder skos:exactMatch DOID:3480 uveal disease semapv:UnspecifiedMatching MONDO:0002661 uveal disorder skos:exactMatch NCIT:C26908 Uveal Disorder semapv:UnspecifiedMatching MONDO:0002661 uveal disorder skos:exactMatch SCTID:95678007 semapv:UnspecifiedMatching MONDO:0002661 uveal disorder skos:exactMatch UMLS:C0042161 semapv:UnspecifiedMatching MONDO:0002661 uveal disorder skos:exactMatch mesh:D014603 semapv:UnspecifiedMatching MONDO:0002664 extrahepatic bile duct signet ring cell carcinoma skos:exactMatch DOID:3494 bile duct signet ring cell carcinoma semapv:UnspecifiedMatching MONDO:0002664 extrahepatic bile duct signet ring cell carcinoma skos:exactMatch NCIT:C5776 Extrahepatic Bile Duct Signet Ring Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002664 extrahepatic bile duct signet ring cell carcinoma skos:exactMatch UMLS:C0861859 semapv:UnspecifiedMatching MONDO:0002665 extrahepatic bile duct adenocarcinoma skos:exactMatch DOID:3495 extrahepatic bile duct adenocarcinoma semapv:UnspecifiedMatching MONDO:0002665 extrahepatic bile duct adenocarcinoma skos:exactMatch NCIT:C7975 Extrahepatic Bile Duct Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002665 extrahepatic bile duct adenocarcinoma skos:exactMatch UMLS:C0279659 semapv:UnspecifiedMatching MONDO:0002666 pancreatic signet ring cell adenocarcinoma skos:exactMatch DOID:3497 pancreatic signet ring cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0002666 pancreatic signet ring cell adenocarcinoma skos:exactMatch NCIT:C5720 Pancreatic Signet Ring Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002666 pancreatic signet ring cell adenocarcinoma skos:exactMatch UMLS:C1335317 semapv:UnspecifiedMatching MONDO:0002667 gallbladder signet ring cell adenocarcinoma skos:exactMatch DOID:3499 gallbladder signet ring cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0002667 gallbladder signet ring cell adenocarcinoma skos:exactMatch NCIT:C5745 Gallbladder Signet Ring Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002667 gallbladder signet ring cell adenocarcinoma skos:exactMatch UMLS:C1333758 semapv:UnspecifiedMatching MONDO:0002669 ampullary signet ring cell adenocarcinoma skos:exactMatch DOID:3501 ampullary signet ring cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0002669 ampullary signet ring cell adenocarcinoma skos:exactMatch NCIT:C6656 Ampulla of Vater Signet Ring Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002669 ampullary signet ring cell adenocarcinoma skos:exactMatch UMLS:C1332249 semapv:UnspecifiedMatching MONDO:0002670 ampulla of vater adenocarcinoma skos:exactMatch DOID:3502 ampulla of Vater adenocarcinoma semapv:UnspecifiedMatching MONDO:0002670 ampulla of vater adenocarcinoma skos:exactMatch NCIT:C6650 Ampulla of Vater Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002670 ampulla of vater adenocarcinoma skos:exactMatch UMLS:C1332243 semapv:UnspecifiedMatching MONDO:0002671 signet ring cell breast carcinoma skos:exactMatch DOID:3503 breast signet ring cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0002671 signet ring cell breast carcinoma skos:exactMatch NCIT:C5175 Breast Signet Ring Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002671 signet ring cell breast carcinoma skos:exactMatch UMLS:C1335964 semapv:UnspecifiedMatching MONDO:0002672 acinar prostate adenocarcinoma, signet ring variant skos:exactMatch DOID:3504 prostate signet ring cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0002672 acinar prostate adenocarcinoma, signet ring variant skos:exactMatch NCIT:C5535 Prostate Acinar Signet Ring Cell-Like Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002672 acinar prostate adenocarcinoma, signet ring variant skos:exactMatch UMLS:C1335520 semapv:UnspecifiedMatching MONDO:0002674 stricture or kinking of ureter skos:exactMatch DOID:3508 stricture or kinking of ureter semapv:UnspecifiedMatching MONDO:0002675 neurofibrosarcoma skos:exactMatch DOID:3512 neurofibrosarcoma semapv:UnspecifiedMatching MONDO:0002675 neurofibrosarcoma skos:exactMatch mesh:D018319 semapv:UnspecifiedMatching MONDO:0002676 adult fibrosarcoma skos:exactMatch DOID:3516 adult fibrosarcoma semapv:UnspecifiedMatching MONDO:0002676 adult fibrosarcoma skos:exactMatch NCIT:C7809 Adult Fibrosarcoma semapv:UnspecifiedMatching MONDO:0002676 adult fibrosarcoma skos:exactMatch UMLS:C0278595 semapv:UnspecifiedMatching MONDO:0002677 conventional fibrosarcoma skos:exactMatch DOID:3517 conventional fibrosarcoma semapv:UnspecifiedMatching MONDO:0002677 conventional fibrosarcoma skos:exactMatch NCIT:C9429 Conventional Fibrosarcoma semapv:UnspecifiedMatching MONDO:0002677 conventional fibrosarcoma skos:exactMatch UMLS:C1333156 semapv:UnspecifiedMatching MONDO:0002678 pediatric fibrosarcoma skos:exactMatch DOID:3520 childhood fibrosarcoma semapv:UnspecifiedMatching MONDO:0002678 pediatric fibrosarcoma skos:exactMatch NCIT:C8088 Childhood Fibrosarcoma semapv:UnspecifiedMatching MONDO:0002678 pediatric fibrosarcoma skos:exactMatch UMLS:C0279981 semapv:UnspecifiedMatching MONDO:0002679 cerebral infarction skos:exactMatch DOID:3526 cerebral infarction semapv:UnspecifiedMatching MONDO:0002679 cerebral infarction skos:exactMatch NCIT:C50486 Cerebral Infarction semapv:UnspecifiedMatching MONDO:0002679 cerebral infarction skos:exactMatch SCTID:432504007 semapv:UnspecifiedMatching MONDO:0002679 cerebral infarction skos:exactMatch UMLS:C0007785 semapv:UnspecifiedMatching MONDO:0002679 cerebral infarction skos:exactMatch mesh:D002544 semapv:UnspecifiedMatching MONDO:0002680 chronic wasting disease skos:exactMatch DOID:3530 chronic wasting disease semapv:UnspecifiedMatching MONDO:0002680 chronic wasting disease skos:exactMatch UMLS:C1135993 semapv:UnspecifiedMatching MONDO:0002680 chronic wasting disease skos:exactMatch mesh:D034081 semapv:UnspecifiedMatching MONDO:0002681 choroid plexus cancer skos:exactMatch DOID:3540 choroid plexus cancer semapv:UnspecifiedMatching MONDO:0002681 choroid plexus cancer skos:exactMatch NCIT:C4533 Malignant Choroid Plexus Neoplasm semapv:UnspecifiedMatching MONDO:0002682 cerebral ventricle cancer skos:exactMatch DOID:3541 cerebral ventricle cancer semapv:UnspecifiedMatching MONDO:0002682 cerebral ventricle cancer skos:exactMatch NCIT:C2937 Intraventricular Brain Neoplasm semapv:UnspecifiedMatching MONDO:0002682 cerebral ventricle cancer skos:exactMatch SCTID:126958000 semapv:UnspecifiedMatching MONDO:0002682 cerebral ventricle cancer skos:exactMatch mesh:D002551 semapv:UnspecifiedMatching MONDO:0002683 adult choroid plexus neoplasm skos:exactMatch DOID:3542 adult choroid plexus cancer semapv:UnspecifiedMatching MONDO:0002683 adult choroid plexus neoplasm skos:exactMatch NCIT:C8568 Adult Choroid Plexus Neoplasm semapv:UnspecifiedMatching MONDO:0002683 adult choroid plexus neoplasm skos:exactMatch UMLS:C0796430 semapv:UnspecifiedMatching MONDO:0002684 atypical choroid plexus papilloma skos:exactMatch DOID:3544 atypical choroid plexus papilloma semapv:UnspecifiedMatching MONDO:0002684 atypical choroid plexus papilloma skos:exactMatch NCIT:C53686 Atypical Choroid Plexus Papilloma semapv:UnspecifiedMatching MONDO:0002684 atypical choroid plexus papilloma skos:exactMatch Orphanet:251902 Atypical papilloma of choroid plexus semapv:UnspecifiedMatching MONDO:0002684 atypical choroid plexus papilloma skos:exactMatch UMLS:C1266176 semapv:UnspecifiedMatching MONDO:0002685 childhood choroid plexus carcinoma skos:exactMatch DOID:3545 childhood choroid plexus cancer semapv:UnspecifiedMatching MONDO:0002685 childhood choroid plexus carcinoma skos:exactMatch NCIT:C124292 Childhood Choroid Plexus Carcinoma semapv:UnspecifiedMatching MONDO:0002685 childhood choroid plexus carcinoma skos:exactMatch UMLS:C1510426 semapv:UnspecifiedMatching MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch DOID:3557 superior mesenteric artery syndrome semapv:UnspecifiedMatching MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch NCIT:C85175 Superior Mesenteric Artery Syndrome semapv:UnspecifiedMatching MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:UnspecifiedMatching MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch SCTID:197006009 semapv:UnspecifiedMatching MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch UMLS:C0038828 semapv:UnspecifiedMatching MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch mesh:D013478 semapv:UnspecifiedMatching MONDO:0002688 duodenal obstruction skos:exactMatch DOID:3558 duodenal obstruction semapv:UnspecifiedMatching MONDO:0002688 duodenal obstruction skos:exactMatch SCTID:95532008 semapv:UnspecifiedMatching MONDO:0002688 duodenal obstruction skos:exactMatch UMLS:C0013292 semapv:UnspecifiedMatching MONDO:0002688 duodenal obstruction skos:exactMatch mesh:D004380 semapv:UnspecifiedMatching MONDO:0002691 liver cancer skos:exactMatch DOID:3571 liver cancer semapv:UnspecifiedMatching MONDO:0002691 liver cancer skos:exactMatch NCIT:C34803 Primary Malignant Liver Neoplasm semapv:UnspecifiedMatching MONDO:0002691 liver cancer skos:exactMatch SCTID:93870000 semapv:UnspecifiedMatching MONDO:0002691 liver cancer skos:exactMatch UMLS:C0345904 semapv:UnspecifiedMatching MONDO:0002692 intracranial sinus thrombosis skos:exactMatch DOID:3572 intracranial sinus thrombosis semapv:UnspecifiedMatching MONDO:0002692 intracranial sinus thrombosis skos:exactMatch UMLS:C0037198 semapv:UnspecifiedMatching MONDO:0002692 intracranial sinus thrombosis skos:exactMatch mesh:D012851 semapv:UnspecifiedMatching MONDO:0002693 lateral sinus thrombosis skos:exactMatch DOID:3574 lateral sinus thrombosis semapv:UnspecifiedMatching MONDO:0002693 lateral sinus thrombosis skos:exactMatch SCTID:192761004 semapv:UnspecifiedMatching MONDO:0002693 lateral sinus thrombosis skos:exactMatch UMLS:C0270639 semapv:UnspecifiedMatching MONDO:0002693 lateral sinus thrombosis skos:exactMatch mesh:D020227 semapv:UnspecifiedMatching MONDO:0002694 cavernous sinus thrombosis skos:exactMatch DOID:3575 cavernous sinus thrombosis semapv:UnspecifiedMatching MONDO:0002694 cavernous sinus thrombosis skos:exactMatch SCTID:89980009 semapv:UnspecifiedMatching MONDO:0002694 cavernous sinus thrombosis skos:exactMatch UMLS:C0238454 semapv:UnspecifiedMatching MONDO:0002694 cavernous sinus thrombosis skos:exactMatch mesh:D020226 semapv:UnspecifiedMatching MONDO:0002695 sagittal sinus thrombosis skos:exactMatch DOID:3576 sagittal sinus thrombosis semapv:UnspecifiedMatching MONDO:0002695 sagittal sinus thrombosis skos:exactMatch SCTID:192760003 semapv:UnspecifiedMatching MONDO:0002695 sagittal sinus thrombosis skos:exactMatch UMLS:C0338575 semapv:UnspecifiedMatching MONDO:0002695 sagittal sinus thrombosis skos:exactMatch mesh:D020225 semapv:UnspecifiedMatching MONDO:0002696 Sertoli cell tumor skos:exactMatch DOID:3577 Sertoli cell tumor semapv:UnspecifiedMatching MONDO:0002696 Sertoli cell tumor skos:exactMatch NCIT:C39976 Sertoli Cell Tumor semapv:UnspecifiedMatching MONDO:0002696 Sertoli cell tumor skos:exactMatch UMLS:C0036769 semapv:UnspecifiedMatching MONDO:0002696 Sertoli cell tumor skos:exactMatch mesh:D012707 semapv:UnspecifiedMatching MONDO:0002697 ovarian gonadoblastoma skos:exactMatch DOID:3578 ovarian gonadoblastoma semapv:UnspecifiedMatching MONDO:0002697 ovarian gonadoblastoma skos:exactMatch NCIT:C39985 Ovarian Gonadoblastoma semapv:UnspecifiedMatching MONDO:0002697 ovarian gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:UnspecifiedMatching MONDO:0002697 ovarian gonadoblastoma skos:exactMatch Orphanet:206484 Gonadoblastoma semapv:UnspecifiedMatching MONDO:0002697 ovarian gonadoblastoma skos:exactMatch SCTID:716594002 semapv:UnspecifiedMatching MONDO:0002697 ovarian gonadoblastoma skos:exactMatch UMLS:C1518716 semapv:UnspecifiedMatching MONDO:0002698 testicular gonadoblastoma skos:exactMatch DOID:3579 testicular gonadoblastoma semapv:UnspecifiedMatching MONDO:0002698 testicular gonadoblastoma skos:exactMatch NCIT:C39911 Testicular Gonadoblastoma semapv:UnspecifiedMatching MONDO:0002698 testicular gonadoblastoma skos:exactMatch UMLS:C1515283 semapv:UnspecifiedMatching MONDO:0002701 ovarian mucinous cystadenocarcinoma skos:exactMatch DOID:3604 ovarian mucinous cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002701 ovarian mucinous cystadenocarcinoma skos:exactMatch NCIT:C4026 Ovarian Mucinous Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002701 ovarian mucinous cystadenocarcinoma skos:exactMatch SCTID:254851009 semapv:UnspecifiedMatching MONDO:0002701 ovarian mucinous cystadenocarcinoma skos:exactMatch UMLS:C0279665 semapv:UnspecifiedMatching MONDO:0002702 ovarian cystadenocarcinoma skos:exactMatch DOID:3605 ovarian cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002702 ovarian cystadenocarcinoma skos:exactMatch NCIT:C5228 Ovarian Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002702 ovarian cystadenocarcinoma skos:exactMatch SCTID:314191009 semapv:UnspecifiedMatching MONDO:0002702 ovarian cystadenocarcinoma skos:exactMatch UMLS:C1096638 semapv:UnspecifiedMatching MONDO:0002703 appendix mucinous cystadenocarcinoma skos:exactMatch DOID:3607 appendix mucinous cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002703 appendix mucinous cystadenocarcinoma skos:exactMatch NCIT:C5511 Appendix Mucinous Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002703 appendix mucinous cystadenocarcinoma skos:exactMatch UMLS:C1096639 semapv:UnspecifiedMatching MONDO:0002705 breast mucinous cystadenocarcinoma skos:exactMatch DOID:3609 breast mucinous cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002705 breast mucinous cystadenocarcinoma skos:exactMatch NCIT:C40354 Breast Mucinous Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002705 breast mucinous cystadenocarcinoma skos:exactMatch UMLS:C1511318 semapv:UnspecifiedMatching MONDO:0002706 cervix endometriosis skos:exactMatch DOID:361 cervix endometriosis semapv:UnspecifiedMatching MONDO:0002706 cervix endometriosis skos:exactMatch NCIT:C27623 Cervical Endometriosis semapv:UnspecifiedMatching MONDO:0002706 cervix endometriosis skos:exactMatch SCTID:61640006 semapv:UnspecifiedMatching MONDO:0002706 cervix endometriosis skos:exactMatch UMLS:C0269107 semapv:UnspecifiedMatching MONDO:0002707 breast mucinous carcinoma skos:exactMatch DOID:3610 breast mucinous carcinoma semapv:UnspecifiedMatching MONDO:0002707 breast mucinous carcinoma skos:exactMatch NCIT:C9131 Breast Mucinous Carcinoma semapv:UnspecifiedMatching MONDO:0002707 breast mucinous carcinoma skos:exactMatch SCTID:444712000 semapv:UnspecifiedMatching MONDO:0002707 breast mucinous carcinoma skos:exactMatch UMLS:C1334807 semapv:UnspecifiedMatching MONDO:0002708 retinitis skos:exactMatch DOID:3612 retinitis semapv:UnspecifiedMatching MONDO:0002708 retinitis skos:exactMatch NCIT:C115993 Retinitis semapv:UnspecifiedMatching MONDO:0002708 retinitis skos:exactMatch SCTID:399463004 semapv:UnspecifiedMatching MONDO:0002708 retinitis skos:exactMatch UMLS:C0035333 semapv:UnspecifiedMatching MONDO:0002708 retinitis skos:exactMatch mesh:D012173 semapv:UnspecifiedMatching MONDO:0002710 infiltrating angiolipoma skos:exactMatch DOID:3615 infiltrating angiolipoma semapv:UnspecifiedMatching MONDO:0002710 infiltrating angiolipoma skos:exactMatch NCIT:C7449 Infiltrating Angiolipoma semapv:UnspecifiedMatching MONDO:0002710 infiltrating angiolipoma skos:exactMatch UMLS:C1305256 semapv:UnspecifiedMatching MONDO:0002712 epidural spinal canal angiolipoma skos:exactMatch DOID:3617 epidural spinal canal angiolipoma semapv:UnspecifiedMatching MONDO:0002712 epidural spinal canal angiolipoma skos:exactMatch NCIT:C5424 Epidural Spinal Canal Angiolipoma semapv:UnspecifiedMatching MONDO:0002712 epidural spinal canal angiolipoma skos:exactMatch UMLS:C1333416 semapv:UnspecifiedMatching MONDO:0002713 epidural spinal canal neoplasm skos:exactMatch DOID:3618 epidural spinal canal neoplasm semapv:UnspecifiedMatching MONDO:0002713 epidural spinal canal neoplasm skos:exactMatch NCIT:C3019 Epidural Spinal Canal Neoplasm semapv:UnspecifiedMatching MONDO:0002713 epidural spinal canal neoplasm skos:exactMatch UMLS:C0014536 semapv:UnspecifiedMatching MONDO:0002713 epidural spinal canal neoplasm skos:exactMatch mesh:D015174 semapv:UnspecifiedMatching MONDO:0002714 central nervous system cancer skos:exactMatch DOID:3620 central nervous system cancer semapv:UnspecifiedMatching MONDO:0002714 central nervous system cancer skos:exactMatch NCIT:C4627 Malignant Central Nervous System Neoplasm semapv:UnspecifiedMatching MONDO:0002714 central nervous system cancer skos:exactMatch SCTID:126951006 semapv:UnspecifiedMatching MONDO:0002714 central nervous system cancer skos:exactMatch mesh:D016543 semapv:UnspecifiedMatching MONDO:0002715 uterine cancer skos:exactMatch DOID:363 uterine cancer semapv:UnspecifiedMatching MONDO:0002715 uterine cancer skos:exactMatch NCIT:C3552 Malignant Uterine Neoplasm semapv:UnspecifiedMatching MONDO:0002715 uterine cancer skos:exactMatch SCTID:371973000 semapv:UnspecifiedMatching MONDO:0002715 uterine cancer skos:exactMatch mesh:D014594 semapv:UnspecifiedMatching MONDO:0002716 childhood spinal cord tumor skos:exactMatch DOID:3637 childhood spinal cord tumor semapv:UnspecifiedMatching MONDO:0002716 childhood spinal cord tumor skos:exactMatch NCIT:C9234 Childhood Spinal Cord Neoplasm semapv:UnspecifiedMatching MONDO:0002716 childhood spinal cord tumor skos:exactMatch UMLS:C1134515 semapv:UnspecifiedMatching MONDO:0002717 spinal cord intramedullary teratoma skos:exactMatch DOID:3639 spinal cord intramedullary teratoma semapv:UnspecifiedMatching MONDO:0002717 spinal cord intramedullary teratoma skos:exactMatch NCIT:C5428 Intramedullary Spinal Cord Teratoma semapv:UnspecifiedMatching MONDO:0002717 spinal cord intramedullary teratoma skos:exactMatch UMLS:C1334259 semapv:UnspecifiedMatching MONDO:0002718 central nervous system teratoma skos:exactMatch DOID:3640 central nervous system teratoma semapv:UnspecifiedMatching MONDO:0002718 central nervous system teratoma skos:exactMatch NCIT:C5441 Central Nervous System Teratoma semapv:UnspecifiedMatching MONDO:0002718 central nervous system teratoma skos:exactMatch Orphanet:252018 Teratoma of the central nervous system semapv:UnspecifiedMatching MONDO:0002718 central nervous system teratoma skos:exactMatch UMLS:C1332895 semapv:UnspecifiedMatching MONDO:0002719 conus medullaris neoplasm skos:exactMatch DOID:3641 conus medullaris neoplasm semapv:UnspecifiedMatching MONDO:0002719 conus medullaris neoplasm skos:exactMatch NCIT:C5443 Conus Medullaris Neoplasm semapv:UnspecifiedMatching MONDO:0002719 conus medullaris neoplasm skos:exactMatch UMLS:C1333153 semapv:UnspecifiedMatching MONDO:0002720 sella turcica neoplasm skos:exactMatch DOID:3643 sella turcica neoplasm semapv:UnspecifiedMatching MONDO:0002720 sella turcica neoplasm skos:exactMatch NCIT:C4944 Sellar Region Neoplasm semapv:UnspecifiedMatching MONDO:0002720 sella turcica neoplasm skos:exactMatch UMLS:C0748616 semapv:UnspecifiedMatching MONDO:0002721 necrosis of pituitary skos:exactMatch DOID:3646 necrosis of pituitary semapv:UnspecifiedMatching MONDO:0002721 necrosis of pituitary skos:exactMatch NCIT:C27066 Pituitary Gland Necrosis semapv:UnspecifiedMatching MONDO:0002721 necrosis of pituitary skos:exactMatch SCTID:59572000 semapv:UnspecifiedMatching MONDO:0002721 necrosis of pituitary skos:exactMatch UMLS:C0271558 semapv:UnspecifiedMatching MONDO:0002722 olfactory nerve neoplasm skos:exactMatch DOID:8256 olfactory neural tumor semapv:UnspecifiedMatching MONDO:0002722 olfactory nerve neoplasm skos:exactMatch NCIT:C5121 Olfactory Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002722 olfactory nerve neoplasm skos:exactMatch SCTID:126967000 semapv:UnspecifiedMatching MONDO:0002722 olfactory nerve neoplasm skos:exactMatch UMLS:C0346319 semapv:UnspecifiedMatching MONDO:0002724 mast cell neoplasm skos:exactMatch DOID:3664 mast cell neoplasm semapv:UnspecifiedMatching MONDO:0002724 mast cell neoplasm skos:exactMatch NCIT:C9295 Mast Cell Neoplasm semapv:UnspecifiedMatching MONDO:0002724 mast cell neoplasm skos:exactMatch SCTID:414653009 semapv:UnspecifiedMatching MONDO:0002724 mast cell neoplasm skos:exactMatch UMLS:C0334664 semapv:UnspecifiedMatching MONDO:0002726 cutaneous solitary mastocytoma skos:exactMatch DOID:3666 solitary mastocytoma of the skin semapv:UnspecifiedMatching MONDO:0002726 cutaneous solitary mastocytoma skos:exactMatch NCIT:C7138 Solitary Mastocytoma of the Skin semapv:UnspecifiedMatching MONDO:0002726 cutaneous solitary mastocytoma skos:exactMatch mesh:D054705 semapv:UnspecifiedMatching MONDO:0002727 olfactory nerve disorder skos:exactMatch DOID:367 olfactory nerve disease semapv:UnspecifiedMatching MONDO:0002727 olfactory nerve disorder skos:exactMatch NCIT:C27210 Olfactory Nerve Disorder semapv:UnspecifiedMatching MONDO:0002727 olfactory nerve disorder skos:exactMatch SCTID:68982002 semapv:UnspecifiedMatching MONDO:0002727 olfactory nerve disorder skos:exactMatch UMLS:C0751937 semapv:UnspecifiedMatching MONDO:0002727 olfactory nerve disorder skos:exactMatch mesh:D020431 semapv:UnspecifiedMatching MONDO:0002728 rhabdoid tumor skos:exactMatch DOID:3672 rhabdoid cancer semapv:UnspecifiedMatching MONDO:0002728 rhabdoid tumor skos:exactMatch NCIT:C3808 Rhabdoid Tumor semapv:UnspecifiedMatching MONDO:0002728 rhabdoid tumor skos:exactMatch Orphanet:69077 Rhabdoid tumor semapv:UnspecifiedMatching MONDO:0002728 rhabdoid tumor skos:exactMatch UMLS:C0206743 semapv:UnspecifiedMatching MONDO:0002728 rhabdoid tumor skos:exactMatch mesh:D018335 semapv:UnspecifiedMatching MONDO:0002729 rhabdoid tumor of the kidney skos:exactMatch DOID:3674 kidney rhabdoid cancer semapv:UnspecifiedMatching MONDO:0002729 rhabdoid tumor of the kidney skos:exactMatch NCIT:C8715 Rhabdoid Tumor of the Kidney semapv:UnspecifiedMatching MONDO:0002729 rhabdoid tumor of the kidney skos:exactMatch UMLS:C0854917 semapv:UnspecifiedMatching MONDO:0002730 childhood kidney neoplasm skos:exactMatch DOID:3675 childhood kidney cancer semapv:UnspecifiedMatching MONDO:0002730 childhood kidney neoplasm skos:exactMatch NCIT:C6563 Childhood Kidney Neoplasm semapv:UnspecifiedMatching MONDO:0002730 childhood kidney neoplasm skos:exactMatch UMLS:C1333003 semapv:UnspecifiedMatching MONDO:0002731 cerebral hemisphere cancer skos:exactMatch DOID:368 cerebrum cancer semapv:UnspecifiedMatching MONDO:0002731 cerebral hemisphere cancer skos:exactMatch NCIT:C4577 Malignant Cerebral Neoplasm semapv:UnspecifiedMatching MONDO:0002731 cerebral hemisphere cancer skos:exactMatch SCTID:429033009 semapv:UnspecifiedMatching MONDO:0002732 lung benign neoplasm skos:exactMatch DOID:3683 lung benign neoplasm semapv:UnspecifiedMatching MONDO:0002732 lung benign neoplasm skos:exactMatch NCIT:C4454 Benign Lung Neoplasm semapv:UnspecifiedMatching MONDO:0002734 anal mucinous adenocarcinoma skos:exactMatch DOID:3691 anal colloid adenocarcinoma semapv:UnspecifiedMatching MONDO:0002734 anal mucinous adenocarcinoma skos:exactMatch NCIT:C5606 Anal Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002734 anal mucinous adenocarcinoma skos:exactMatch UMLS:C1332272 semapv:UnspecifiedMatching MONDO:0002735 anal canal adenocarcinoma skos:exactMatch DOID:3692 anal canal adenocarcinoma semapv:UnspecifiedMatching MONDO:0002735 anal canal adenocarcinoma skos:exactMatch NCIT:C7471 Anal Canal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002735 anal canal adenocarcinoma skos:exactMatch Orphanet:424016 Adenocarcinoma of the anal canal semapv:UnspecifiedMatching MONDO:0002735 anal canal adenocarcinoma skos:exactMatch SCTID:764845008 semapv:UnspecifiedMatching MONDO:0002735 anal canal adenocarcinoma skos:exactMatch UMLS:C1332259 semapv:UnspecifiedMatching MONDO:0002736 ampulla of vater mucinous adenocarcinoma skos:exactMatch DOID:3693 ampulla of Vater mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0002736 ampulla of vater mucinous adenocarcinoma skos:exactMatch NCIT:C27416 Ampulla of Vater Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002736 ampulla of vater mucinous adenocarcinoma skos:exactMatch UMLS:C1332248 semapv:UnspecifiedMatching MONDO:0002737 acute sanguinous otitis media skos:exactMatch DOID:3696 acute sanguinous otitis media semapv:UnspecifiedMatching MONDO:0002737 acute sanguinous otitis media skos:exactMatch SCTID:77478005 semapv:UnspecifiedMatching MONDO:0002737 acute sanguinous otitis media skos:exactMatch UMLS:C0395865 semapv:UnspecifiedMatching MONDO:0002738 acute transudative otitis media skos:exactMatch DOID:3697 acute transudative otitis media semapv:UnspecifiedMatching MONDO:0002738 acute transudative otitis media skos:exactMatch SCTID:359609001 semapv:UnspecifiedMatching MONDO:0002738 acute transudative otitis media skos:exactMatch UMLS:C0271432 semapv:UnspecifiedMatching MONDO:0002738 acute transudative otitis media skos:exactMatch UMLS:C2939185 semapv:UnspecifiedMatching MONDO:0002739 extrahepatic bile duct mucinous adenocarcinoma skos:exactMatch DOID:3698 bile duct mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0002739 extrahepatic bile duct mucinous adenocarcinoma skos:exactMatch NCIT:C5846 Extrahepatic Bile Duct Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002739 extrahepatic bile duct mucinous adenocarcinoma skos:exactMatch UMLS:C0861856 semapv:UnspecifiedMatching MONDO:0002740 uterine ligament mucinous adenocarcinoma skos:exactMatch DOID:3699 uterine ligament mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0002740 uterine ligament mucinous adenocarcinoma skos:exactMatch NCIT:C40137 Broad Ligament Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002741 uterine ligament adenocarcinoma skos:exactMatch DOID:3700 uterine ligament adenocarcinoma semapv:UnspecifiedMatching MONDO:0002741 uterine ligament adenocarcinoma skos:exactMatch NCIT:C40135 Broad Ligament Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002741 uterine ligament adenocarcinoma skos:exactMatch UMLS:C1519866 semapv:UnspecifiedMatching MONDO:0002742 cervical mucinous adenocarcinoma skos:exactMatch DOID:3701 cervical mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0002742 cervical mucinous adenocarcinoma skos:exactMatch NCIT:C36095 Cervical Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002742 cervical mucinous adenocarcinoma skos:exactMatch UMLS:C1332919 semapv:UnspecifiedMatching MONDO:0002744 fallopian tube mucinous adenocarcinoma skos:exactMatch DOID:3704 fallopian tube mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0002744 fallopian tube mucinous adenocarcinoma skos:exactMatch NCIT:C40103 Fallopian Tube Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002744 fallopian tube mucinous adenocarcinoma skos:exactMatch UMLS:C1517119 semapv:UnspecifiedMatching MONDO:0002745 fallopian tube mucinous tumor skos:exactMatch DOID:3705 fallopian tube mucinous tumor semapv:UnspecifiedMatching MONDO:0002745 fallopian tube mucinous tumor skos:exactMatch NCIT:C40109 Fallopian Tube Mucinous Neoplasm semapv:UnspecifiedMatching MONDO:0002745 fallopian tube mucinous tumor skos:exactMatch UMLS:C1517120 semapv:UnspecifiedMatching MONDO:0002746 fallopian tube adenocarcinoma skos:exactMatch DOID:3706 fallopian tube adenocarcinoma semapv:UnspecifiedMatching MONDO:0002746 fallopian tube adenocarcinoma skos:exactMatch NCIT:C6265 Fallopian Tube Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002746 fallopian tube adenocarcinoma skos:exactMatch UMLS:C1333590 semapv:UnspecifiedMatching MONDO:0002747 endometrial mucinous adenocarcinoma skos:exactMatch DOID:3707 endometrial mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0002747 endometrial mucinous adenocarcinoma skos:exactMatch NCIT:C40144 Endometrial Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002747 endometrial mucinous adenocarcinoma skos:exactMatch UMLS:C1519859 semapv:UnspecifiedMatching MONDO:0002748 rectum mucinous adenocarcinoma skos:exactMatch DOID:3709 rectum mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0002748 rectum mucinous adenocarcinoma skos:exactMatch NCIT:C7973 Rectal Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002748 rectum mucinous adenocarcinoma skos:exactMatch UMLS:C0279652 semapv:UnspecifiedMatching MONDO:0002749 extracranial neuroblastoma skos:exactMatch DOID:371 extracranial neuroblastoma semapv:UnspecifiedMatching MONDO:0002749 extracranial neuroblastoma skos:exactMatch NCIT:C5437 Extracranial Neuroblastoma semapv:UnspecifiedMatching MONDO:0002749 extracranial neuroblastoma skos:exactMatch UMLS:C1333499 semapv:UnspecifiedMatching MONDO:0002750 bladder colloid adenocarcinoma skos:exactMatch DOID:3710 bladder colloid adenocarcinoma semapv:UnspecifiedMatching MONDO:0002750 bladder colloid adenocarcinoma skos:exactMatch NCIT:C39837 Bladder Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002750 bladder colloid adenocarcinoma skos:exactMatch UMLS:C1511193 semapv:UnspecifiedMatching MONDO:0002751 bladder adenocarcinoma skos:exactMatch DOID:3711 bladder adenocarcinoma semapv:UnspecifiedMatching MONDO:0002751 bladder adenocarcinoma skos:exactMatch NCIT:C4032 Bladder Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002751 bladder adenocarcinoma skos:exactMatch SCTID:255110003 semapv:UnspecifiedMatching MONDO:0002751 bladder adenocarcinoma skos:exactMatch UMLS:C0279682 semapv:UnspecifiedMatching MONDO:0002752 ovarian adenocarcinoma skos:exactMatch DOID:3713 ovary adenocarcinoma semapv:UnspecifiedMatching MONDO:0002752 ovarian adenocarcinoma skos:exactMatch NCIT:C7700 Ovarian Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002752 ovarian adenocarcinoma skos:exactMatch Orphanet:213504 Adenocarcinoma of ovary semapv:UnspecifiedMatching MONDO:0002754 extramedullary plasmacytoma skos:exactMatch DOID:3720 extramedullary plasmacytoma semapv:UnspecifiedMatching MONDO:0002754 extramedullary plasmacytoma skos:exactMatch ICD10CM:C90.2 Extramedullary plasmacytoma semapv:UnspecifiedMatching MONDO:0002754 extramedullary plasmacytoma skos:exactMatch NCIT:C4002 Extraosseous Plasmacytoma semapv:UnspecifiedMatching MONDO:0002754 extramedullary plasmacytoma skos:exactMatch SCTID:188718006 semapv:UnspecifiedMatching MONDO:0002754 extramedullary plasmacytoma skos:exactMatch UMLS:C0278619 semapv:UnspecifiedMatching MONDO:0002755 solitary osseous plasmacytoma skos:exactMatch DOID:3722 solitary osseous plasmacytoma semapv:UnspecifiedMatching MONDO:0002755 solitary osseous plasmacytoma skos:exactMatch NCIT:C7812 Solitary Plasmacytoma of Bone semapv:UnspecifiedMatching MONDO:0002755 solitary osseous plasmacytoma skos:exactMatch SCTID:426336007 semapv:UnspecifiedMatching MONDO:0002755 solitary osseous plasmacytoma skos:exactMatch UMLS:C0272256 semapv:UnspecifiedMatching MONDO:0002756 solitary plasmacytoma of chest wall skos:exactMatch DOID:3723 solitary plasmacytoma of chest wall semapv:UnspecifiedMatching MONDO:0002756 solitary plasmacytoma of chest wall skos:exactMatch NCIT:C6711 Chest Wall Solitary Plasmacytoma semapv:UnspecifiedMatching MONDO:0002756 solitary plasmacytoma of chest wall skos:exactMatch UMLS:C1332936 semapv:UnspecifiedMatching MONDO:0002757 acute allergic sanguinous otitis media skos:exactMatch DOID:3728 acute allergic sanguinous otitis media semapv:UnspecifiedMatching MONDO:0002757 acute allergic sanguinous otitis media skos:exactMatch SCTID:17866004 semapv:UnspecifiedMatching MONDO:0002757 acute allergic sanguinous otitis media skos:exactMatch UMLS:C0155420 semapv:UnspecifiedMatching MONDO:0002758 vulva verrucous carcinoma skos:exactMatch DOID:3740 vulva verrucous carcinoma semapv:UnspecifiedMatching MONDO:0002758 vulva verrucous carcinoma skos:exactMatch NCIT:C6383 Vulvar Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0002758 vulva verrucous carcinoma skos:exactMatch UMLS:C1336983 semapv:UnspecifiedMatching MONDO:0002759 bladder verrucous carcinoma skos:exactMatch DOID:3741 bladder verrucous squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0002759 bladder verrucous carcinoma skos:exactMatch NCIT:C39832 Bladder Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0002759 bladder verrucous carcinoma skos:exactMatch UMLS:C1511208 semapv:UnspecifiedMatching MONDO:0002760 bladder squamous cell carcinoma skos:exactMatch DOID:3742 bladder squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0002760 bladder squamous cell carcinoma skos:exactMatch NCIT:C4031 Bladder Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002760 bladder squamous cell carcinoma skos:exactMatch SCTID:255111004 semapv:UnspecifiedMatching MONDO:0002760 bladder squamous cell carcinoma skos:exactMatch UMLS:C0279681 semapv:UnspecifiedMatching MONDO:0002761 cervical verrucous carcinoma skos:exactMatch DOID:3743 cervical verrucous carcinoma semapv:UnspecifiedMatching MONDO:0002761 cervical verrucous carcinoma skos:exactMatch NCIT:C40190 Cervical Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0002761 cervical verrucous carcinoma skos:exactMatch UMLS:C1516435 semapv:UnspecifiedMatching MONDO:0002762 esophagus verrucous carcinoma skos:exactMatch DOID:3747 esophagus verrucous carcinoma semapv:UnspecifiedMatching MONDO:0002762 esophagus verrucous carcinoma skos:exactMatch NCIT:C27420 Esophageal Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0002762 esophagus verrucous carcinoma skos:exactMatch UMLS:C1333470 semapv:UnspecifiedMatching MONDO:0002763 urethral verrucous carcinoma skos:exactMatch DOID:3749 urethral verrucous carcinoma semapv:UnspecifiedMatching MONDO:0002763 urethral verrucous carcinoma skos:exactMatch NCIT:C39874 Urethral Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0002763 urethral verrucous carcinoma skos:exactMatch UMLS:C1519827 semapv:UnspecifiedMatching MONDO:0002764 urethra squamous cell carcinoma skos:exactMatch DOID:3750 urethra squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0002764 urethra squamous cell carcinoma skos:exactMatch NCIT:C6165 Urethral Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002764 urethra squamous cell carcinoma skos:exactMatch UMLS:C1336890 semapv:UnspecifiedMatching MONDO:0002765 plantar verrucous skin carcinoma skos:exactMatch DOID:3751 plantar verrucous skin carcinoma semapv:UnspecifiedMatching MONDO:0002765 plantar verrucous skin carcinoma skos:exactMatch NCIT:C6811 Plantar Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0002766 larynx verrucous carcinoma skos:exactMatch DOID:3752 larynx verrucous carcinoma semapv:UnspecifiedMatching MONDO:0002766 larynx verrucous carcinoma skos:exactMatch NCIT:C8188 Laryngeal Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0002766 larynx verrucous carcinoma skos:exactMatch SCTID:707427000 semapv:UnspecifiedMatching MONDO:0002766 larynx verrucous carcinoma skos:exactMatch UMLS:C0280328 semapv:UnspecifiedMatching MONDO:0002768 true hermaphroditism skos:exactMatch DOID:3763 hermaphroditism semapv:UnspecifiedMatching MONDO:0002768 true hermaphroditism skos:exactMatch NCIT:C85207 True Hermaphroditism semapv:UnspecifiedMatching MONDO:0002768 true hermaphroditism skos:exactMatch SCTID:237821001 semapv:UnspecifiedMatching MONDO:0002768 true hermaphroditism skos:exactMatch UMLS:C0266361 semapv:UnspecifiedMatching MONDO:0002769 leukorrhea skos:exactMatch DOID:3766 leukorrhea semapv:UnspecifiedMatching MONDO:0002769 leukorrhea skos:exactMatch mesh:D007973 semapv:UnspecifiedMatching MONDO:0002770 vaginal discharge skos:exactMatch DOID:3767 vaginal discharge semapv:UnspecifiedMatching MONDO:0002770 vaginal discharge skos:exactMatch NCIT:C50795 Abnormal Vaginal Discharge semapv:UnspecifiedMatching MONDO:0002770 vaginal discharge skos:exactMatch mesh:D019522 semapv:UnspecifiedMatching MONDO:0002771 pulmonary fibrosis skos:exactMatch DOID:3770 pulmonary fibrosis semapv:UnspecifiedMatching MONDO:0002771 pulmonary fibrosis skos:exactMatch NCIT:C26869 Pulmonary Fibrosis semapv:UnspecifiedMatching MONDO:0002771 pulmonary fibrosis skos:exactMatch SCTID:51615001 semapv:UnspecifiedMatching MONDO:0002771 pulmonary fibrosis skos:exactMatch UMLS:C0034069 semapv:UnspecifiedMatching MONDO:0002771 pulmonary fibrosis skos:exactMatch mesh:D011658 semapv:UnspecifiedMatching MONDO:0002772 intraventricular meningioma skos:exactMatch DOID:3772 intraventricular meningioma semapv:UnspecifiedMatching MONDO:0002772 intraventricular meningioma skos:exactMatch NCIT:C5273 Intraventricular Meningioma semapv:UnspecifiedMatching MONDO:0002772 intraventricular meningioma skos:exactMatch UMLS:C1334271 semapv:UnspecifiedMatching MONDO:0002775 anovulation skos:exactMatch DOID:3781 anovulation semapv:UnspecifiedMatching MONDO:0002775 anovulation skos:exactMatch UMLS:C0003128 semapv:UnspecifiedMatching MONDO:0002775 anovulation skos:exactMatch mesh:D000858 semapv:UnspecifiedMatching MONDO:0002776 external ear disorder skos:exactMatch DOID:379 external ear disease semapv:UnspecifiedMatching MONDO:0002776 external ear disorder skos:exactMatch ICD10CM:H60-H62 Diseases of external ear (H60-H62) semapv:UnspecifiedMatching MONDO:0002776 external ear disorder skos:exactMatch NCIT:C26972 External Ear Disorder semapv:UnspecifiedMatching MONDO:0002776 external ear disorder skos:exactMatch SCTID:49130001 semapv:UnspecifiedMatching MONDO:0002776 external ear disorder skos:exactMatch UMLS:C0155388 semapv:UnspecifiedMatching MONDO:0002778 epidural spinal canal meningioma skos:exactMatch DOID:3809 epidural spinal canal meningioma semapv:UnspecifiedMatching MONDO:0002778 epidural spinal canal meningioma skos:exactMatch NCIT:C5310 Epidural Spinal Canal Meningioma semapv:UnspecifiedMatching MONDO:0002778 epidural spinal canal meningioma skos:exactMatch UMLS:C1333417 semapv:UnspecifiedMatching MONDO:0002779 central nervous system chondroma skos:exactMatch DOID:3813 central nervous system chondroma semapv:UnspecifiedMatching MONDO:0002779 central nervous system chondroma skos:exactMatch NCIT:C7001 Central Nervous System Chondroma semapv:UnspecifiedMatching MONDO:0002779 central nervous system chondroma skos:exactMatch UMLS:C1333019 semapv:UnspecifiedMatching MONDO:0002781 glossopharyngeal nerve paralysis skos:exactMatch DOID:3816 glossopharyngeal nerve paralysis semapv:UnspecifiedMatching MONDO:0002781 glossopharyngeal nerve paralysis skos:exactMatch NCIT:C27335 Cranial Nerve IX Palsy semapv:UnspecifiedMatching MONDO:0002781 glossopharyngeal nerve paralysis skos:exactMatch UMLS:C5231192 semapv:UnspecifiedMatching MONDO:0002782 cranial nerve palsy skos:exactMatch DOID:3817 cranial nerve palsy semapv:UnspecifiedMatching MONDO:0002782 cranial nerve palsy skos:exactMatch NCIT:C26941 Cranial Nerve Palsy semapv:UnspecifiedMatching MONDO:0002782 cranial nerve palsy skos:exactMatch UMLS:C0151311 semapv:UnspecifiedMatching MONDO:0002783 Shwartzman phenomenon skos:exactMatch DOID:3825 Shwartzman phenomenon semapv:UnspecifiedMatching MONDO:0002783 Shwartzman phenomenon skos:exactMatch UMLS:C0037018 semapv:UnspecifiedMatching MONDO:0002783 Shwartzman phenomenon skos:exactMatch mesh:D012790 semapv:UnspecifiedMatching MONDO:0002785 skull base neoplasm skos:exactMatch DOID:3842 skull base cancer semapv:UnspecifiedMatching MONDO:0002785 skull base neoplasm skos:exactMatch NCIT:C4676 Skull Base Neoplasm semapv:UnspecifiedMatching MONDO:0002785 skull base neoplasm skos:exactMatch UMLS:C0376527 semapv:UnspecifiedMatching MONDO:0002785 skull base neoplasm skos:exactMatch mesh:D019292 semapv:UnspecifiedMatching MONDO:0002786 diencephalic cancer skos:exactMatch DOID:3843 diencephalic neoplasm semapv:UnspecifiedMatching MONDO:0002786 diencephalic cancer skos:exactMatch NCIT:C5126 Malignant Diencephalic Neoplasm semapv:UnspecifiedMatching MONDO:0002786 diencephalic cancer skos:exactMatch UMLS:C1334576 semapv:UnspecifiedMatching MONDO:0002787 adamantinous craniopharyngioma skos:exactMatch DOID:3846 adamantinous craniopharyngioma semapv:UnspecifiedMatching MONDO:0002787 adamantinous craniopharyngioma skos:exactMatch NCIT:C4726 Adamantinomatous Craniopharyngioma semapv:UnspecifiedMatching MONDO:0002787 adamantinous craniopharyngioma skos:exactMatch UMLS:C0431129 semapv:UnspecifiedMatching MONDO:0002788 papillary craniopharyngioma skos:exactMatch DOID:3847 papillary craniopharyngioma semapv:UnspecifiedMatching MONDO:0002788 papillary craniopharyngioma skos:exactMatch NCIT:C4725 Papillary Craniopharyngioma semapv:UnspecifiedMatching MONDO:0002788 papillary craniopharyngioma skos:exactMatch UMLS:C0431128 semapv:UnspecifiedMatching MONDO:0002789 hemangiopericytic tumor skos:exactMatch DOID:3850 hemangiopericytic tumor semapv:UnspecifiedMatching MONDO:0002789 hemangiopericytic tumor skos:exactMatch NCIT:C7076 Hemangiopericytic Neoplasm semapv:UnspecifiedMatching MONDO:0002789 hemangiopericytic tumor skos:exactMatch UMLS:C0476144 semapv:UnspecifiedMatching MONDO:0002790 seminal vesicle tumor skos:exactMatch DOID:3855 seminal vesicle tumor semapv:UnspecifiedMatching MONDO:0002790 seminal vesicle tumor skos:exactMatch NCIT:C39908 Seminal Vesicle Neoplasm semapv:UnspecifiedMatching MONDO:0002790 seminal vesicle tumor skos:exactMatch SCTID:236740006 semapv:UnspecifiedMatching MONDO:0002790 seminal vesicle tumor skos:exactMatch UMLS:C0341767 semapv:UnspecifiedMatching MONDO:0002791 large cell medulloblastoma skos:exactMatch DOID:3857 large cell medulloblastoma semapv:UnspecifiedMatching MONDO:0002791 large cell medulloblastoma skos:exactMatch NCIT:C6904 Large Cell Medulloblastoma semapv:UnspecifiedMatching MONDO:0002791 large cell medulloblastoma skos:exactMatch UMLS:C1266180 semapv:UnspecifiedMatching MONDO:0002792 cerebellar vermis medulloblastoma skos:exactMatch DOID:3860 cerebellar vermis medulloblastoma semapv:UnspecifiedMatching MONDO:0002792 cerebellar vermis medulloblastoma skos:exactMatch NCIT:C5401 Cerebellar Vermis Medulloblastoma semapv:UnspecifiedMatching MONDO:0002792 cerebellar vermis medulloblastoma skos:exactMatch UMLS:C1332903 semapv:UnspecifiedMatching MONDO:0002794 adult medulloblastoma skos:exactMatch DOID:3864 adult medulloblastoma semapv:UnspecifiedMatching MONDO:0002794 adult medulloblastoma skos:exactMatch NCIT:C4011 Adult Medulloblastoma semapv:UnspecifiedMatching MONDO:0002794 adult medulloblastoma skos:exactMatch UMLS:C0278876 semapv:UnspecifiedMatching MONDO:0002795 adult central nervous system primitive neuroectodermal neoplasm skos:exactMatch DOID:3865 adult central nervous system embryonal tumor semapv:UnspecifiedMatching MONDO:0002795 adult central nervous system primitive neuroectodermal neoplasm skos:exactMatch NCIT:C5411 Adult Central Nervous System Embryonal Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0002795 adult central nervous system primitive neuroectodermal neoplasm skos:exactMatch UMLS:C1332196 semapv:UnspecifiedMatching MONDO:0002796 melanotic medulloblastoma skos:exactMatch DOID:3868 melanotic medulloblastoma semapv:UnspecifiedMatching MONDO:0002796 melanotic medulloblastoma skos:exactMatch NCIT:C9497 Melanocytic Medulloblastoma semapv:UnspecifiedMatching MONDO:0002796 melanotic medulloblastoma skos:exactMatch UMLS:C1275668 semapv:UnspecifiedMatching MONDO:0002797 childhood medulloblastoma skos:exactMatch DOID:3869 childhood medulloblastoma semapv:UnspecifiedMatching MONDO:0002797 childhood medulloblastoma skos:exactMatch NCIT:C3997 Childhood Medulloblastoma semapv:UnspecifiedMatching MONDO:0002797 childhood medulloblastoma skos:exactMatch UMLS:C0278510 semapv:UnspecifiedMatching MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm skos:exactMatch DOID:3870 childhood central nervous system embryonal tumor semapv:UnspecifiedMatching MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm skos:exactMatch NCIT:C5961 Childhood Central Nervous System Embryonal Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm skos:exactMatch UMLS:C1332957 semapv:UnspecifiedMatching MONDO:0002799 nodular medulloblastoma skos:exactMatch DOID:3873 desmoplastic/nodular medulloblastoma semapv:UnspecifiedMatching MONDO:0002800 thrombophlebitis skos:exactMatch DOID:3875 thrombophlebitis semapv:UnspecifiedMatching MONDO:0002800 thrombophlebitis skos:exactMatch ICD10CM:I80.0 Phlebitis and thrombophlebitis of superficial vessels of lower extremities semapv:UnspecifiedMatching MONDO:0002800 thrombophlebitis skos:exactMatch NCIT:C3410 Thrombophlebitis semapv:UnspecifiedMatching MONDO:0002800 thrombophlebitis skos:exactMatch SCTID:40283005 semapv:UnspecifiedMatching MONDO:0002800 thrombophlebitis skos:exactMatch UMLS:C0040046 semapv:UnspecifiedMatching MONDO:0002800 thrombophlebitis skos:exactMatch mesh:D013924 semapv:UnspecifiedMatching MONDO:0002801 colonic pseudo-obstruction skos:exactMatch DOID:3876 colonic pseudo-obstruction semapv:UnspecifiedMatching MONDO:0002801 colonic pseudo-obstruction skos:exactMatch SCTID:35065006 semapv:UnspecifiedMatching MONDO:0002801 colonic pseudo-obstruction skos:exactMatch UMLS:C0009377 semapv:UnspecifiedMatching MONDO:0002801 colonic pseudo-obstruction skos:exactMatch mesh:D003112 semapv:UnspecifiedMatching MONDO:0002802 functional colonic disease skos:exactMatch DOID:3877 functional colonic disease semapv:UnspecifiedMatching MONDO:0002802 functional colonic disease skos:exactMatch UMLS:C0009374 semapv:UnspecifiedMatching MONDO:0002802 functional colonic disease skos:exactMatch mesh:D003109 semapv:UnspecifiedMatching MONDO:0002803 intestinal pseudo-obstruction skos:exactMatch NCIT:C34733 Intestinal Pseudo-Obstruction semapv:UnspecifiedMatching MONDO:0002803 intestinal pseudo-obstruction skos:exactMatch SCTID:235825006 semapv:UnspecifiedMatching MONDO:0002803 intestinal pseudo-obstruction skos:exactMatch UMLS:C0021847 semapv:UnspecifiedMatching MONDO:0002803 intestinal pseudo-obstruction skos:exactMatch mesh:D007418 semapv:UnspecifiedMatching MONDO:0002804 apocrine adenoma skos:exactMatch DOID:3895 apocrine adenoma semapv:UnspecifiedMatching MONDO:0002804 apocrine adenoma skos:exactMatch NCIT:C4168 Apocrine Adenoma semapv:UnspecifiedMatching MONDO:0002804 apocrine adenoma skos:exactMatch SCTID:307596009 semapv:UnspecifiedMatching MONDO:0002804 apocrine adenoma skos:exactMatch UMLS:C0334345 semapv:UnspecifiedMatching MONDO:0002805 hidradenoma skos:exactMatch DOID:3896 hidradenoma semapv:UnspecifiedMatching MONDO:0002805 hidradenoma skos:exactMatch NCIT:C7563 Hidradenoma semapv:UnspecifiedMatching MONDO:0002806 bronchogenic carcinoma skos:exactMatch DOID:3904 bronchus carcinoma semapv:UnspecifiedMatching MONDO:0002806 bronchogenic carcinoma skos:exactMatch NCIT:C35875 Bronchogenic Carcinoma semapv:UnspecifiedMatching MONDO:0002806 bronchogenic carcinoma skos:exactMatch SCTID:254622008 semapv:UnspecifiedMatching MONDO:0002806 bronchogenic carcinoma skos:exactMatch UMLS:C0007121 semapv:UnspecifiedMatching MONDO:0002806 bronchogenic carcinoma skos:exactMatch mesh:D002283 semapv:UnspecifiedMatching MONDO:0002807 bronchial neoplasm skos:exactMatch DOID:3906 bronchial benign neoplasm semapv:UnspecifiedMatching MONDO:0002807 bronchial neoplasm skos:exactMatch SCTID:126705004 semapv:UnspecifiedMatching MONDO:0002807 bronchial neoplasm skos:exactMatch UMLS:C0006264 semapv:UnspecifiedMatching MONDO:0002807 bronchial neoplasm skos:exactMatch mesh:D001984 semapv:UnspecifiedMatching MONDO:0002808 pancreatic serous cystadenoma skos:exactMatch DOID:3917 pancreatic serous cystadenoma semapv:UnspecifiedMatching MONDO:0002808 pancreatic serous cystadenoma skos:exactMatch NCIT:C5712 Pancreatic Serous Cystadenoma semapv:UnspecifiedMatching MONDO:0002808 pancreatic serous cystadenoma skos:exactMatch UMLS:C1335316 semapv:UnspecifiedMatching MONDO:0002809 pancreatic cystadenoma skos:exactMatch DOID:3918 pancreatic cystadenoma semapv:UnspecifiedMatching MONDO:0002809 pancreatic cystadenoma skos:exactMatch NCIT:C4374 Pancreatic Cystadenoma semapv:UnspecifiedMatching MONDO:0002809 pancreatic cystadenoma skos:exactMatch SCTID:235967003 semapv:UnspecifiedMatching MONDO:0002809 pancreatic cystadenoma skos:exactMatch UMLS:C0341486 semapv:UnspecifiedMatching MONDO:0002810 pancreatic serous cystic neoplasm skos:exactMatch DOID:3919 pancreatic serous cystic neoplasm semapv:UnspecifiedMatching MONDO:0002810 pancreatic serous cystic neoplasm skos:exactMatch NCIT:C41248 Pancreatic Serous Neoplasm semapv:UnspecifiedMatching MONDO:0002810 pancreatic serous cystic neoplasm skos:exactMatch UMLS:C1518875 semapv:UnspecifiedMatching MONDO:0002811 main bronchus cancer skos:exactMatch DOID:3924 main bronchus cancer semapv:UnspecifiedMatching MONDO:0002811 main bronchus cancer skos:exactMatch SCTID:372065009 semapv:UnspecifiedMatching MONDO:0002811 main bronchus cancer skos:exactMatch UMLS:C0153490 semapv:UnspecifiedMatching MONDO:0002812 infectious otitis interna skos:exactMatch UMLS:C1168225 semapv:UnspecifiedMatching MONDO:0002813 lipomatous cancer skos:exactMatch SCTID:254828009 semapv:UnspecifiedMatching MONDO:0002814 adrenal carcinoma skos:exactMatch DOID:3950 adrenal carcinoma semapv:UnspecifiedMatching MONDO:0002815 acute myocarditis skos:exactMatch DOID:3951 acute myocarditis semapv:UnspecifiedMatching MONDO:0002815 acute myocarditis skos:exactMatch NCIT:C35206 Acute Myocarditis semapv:UnspecifiedMatching MONDO:0002815 acute myocarditis skos:exactMatch SCTID:46701001 semapv:UnspecifiedMatching MONDO:0002815 acute myocarditis skos:exactMatch UMLS:C0155686 semapv:UnspecifiedMatching MONDO:0002816 adrenal cortex disorder skos:exactMatch DOID:3952 adrenal cortex disease semapv:UnspecifiedMatching MONDO:0002816 adrenal cortex disorder skos:exactMatch SCTID:129636003 semapv:UnspecifiedMatching MONDO:0002816 adrenal cortex disorder skos:exactMatch UMLS:C0001614 semapv:UnspecifiedMatching MONDO:0002816 adrenal cortex disorder skos:exactMatch mesh:D000303 semapv:UnspecifiedMatching MONDO:0002817 adrenal gland cancer skos:exactMatch DOID:3953 adrenal gland cancer semapv:UnspecifiedMatching MONDO:0002817 adrenal gland cancer skos:exactMatch NCIT:C9338 Malignant Adrenal Gland Neoplasm semapv:UnspecifiedMatching MONDO:0002817 adrenal gland cancer skos:exactMatch SCTID:127021009 semapv:UnspecifiedMatching MONDO:0002817 adrenal gland cancer skos:exactMatch mesh:D000310 semapv:UnspecifiedMatching MONDO:0002821 trabecular follicular adenocarcinoma skos:exactMatch DOID:3964 trabecular follicular adenocarcinoma semapv:UnspecifiedMatching MONDO:0002821 trabecular follicular adenocarcinoma skos:exactMatch UMLS:C0334327 semapv:UnspecifiedMatching MONDO:0002822 trabecular adenocarcinoma skos:exactMatch DOID:3965 Merkel cell carcinoma semapv:UnspecifiedMatching MONDO:0002822 trabecular adenocarcinoma skos:exactMatch NCIT:C4068 Trabecular Adenocarcinoma semapv:UnspecifiedMatching MONDO:0002822 trabecular adenocarcinoma skos:exactMatch UMLS:C0302182 semapv:UnspecifiedMatching MONDO:0002824 extrinsic cardiomyopathy skos:exactMatch DOID:3978 extrinsic cardiomyopathy semapv:UnspecifiedMatching MONDO:0002824 extrinsic cardiomyopathy skos:exactMatch SCTID:195029002 semapv:UnspecifiedMatching MONDO:0002828 Bartholin gland transitional cell carcinoma skos:exactMatch DOID:3998 Bartholin's gland transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0002828 Bartholin gland transitional cell carcinoma skos:exactMatch NCIT:C40297 Bartholin Gland Transitional Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002828 Bartholin gland transitional cell carcinoma skos:exactMatch UMLS:C1511053 semapv:UnspecifiedMatching MONDO:0002829 bartholin gland carcinoma skos:exactMatch DOID:3999 Bartholin's gland carcinoma semapv:UnspecifiedMatching MONDO:0002829 bartholin gland carcinoma skos:exactMatch DOID:60003 Bartholin's gland cancer semapv:UnspecifiedMatching MONDO:0002829 bartholin gland carcinoma skos:exactMatch NCIT:C9055 Bartholin Gland Carcinoma semapv:UnspecifiedMatching MONDO:0002829 bartholin gland carcinoma skos:exactMatch SCTID:276876007 semapv:UnspecifiedMatching MONDO:0002829 bartholin gland carcinoma skos:exactMatch UMLS:C0349561 semapv:UnspecifiedMatching MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma skos:exactMatch DOID:4003 Schneiderian carcinoma semapv:UnspecifiedMatching MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma skos:exactMatch NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma skos:exactMatch UMLS:C0334270 semapv:UnspecifiedMatching MONDO:0002832 endometrial transitional cell carcinoma skos:exactMatch DOID:4005 endometrial transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0002832 endometrial transitional cell carcinoma skos:exactMatch NCIT:C40154 Endometrial Transitional Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002832 endometrial transitional cell carcinoma skos:exactMatch UMLS:C1516864 semapv:UnspecifiedMatching MONDO:0002833 fallopian tube transitional cell carcinoma skos:exactMatch DOID:4008 fallopian tube transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0002833 fallopian tube transitional cell carcinoma skos:exactMatch NCIT:C40104 Fallopian Tube Transitional Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002833 fallopian tube transitional cell carcinoma skos:exactMatch UMLS:C1517128 semapv:UnspecifiedMatching MONDO:0002834 primary prostate urothelial carcinoma skos:exactMatch DOID:4011 prostate transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0002834 primary prostate urothelial carcinoma skos:exactMatch NCIT:C39898 Primary Prostate Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0002834 primary prostate urothelial carcinoma skos:exactMatch UMLS:C1514430 semapv:UnspecifiedMatching MONDO:0002836 urethra transitional cell carcinoma skos:exactMatch DOID:4013 urethra transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0002836 urethra transitional cell carcinoma skos:exactMatch NCIT:C6166 Urethral Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0002836 urethra transitional cell carcinoma skos:exactMatch UMLS:C0863015 semapv:UnspecifiedMatching MONDO:0002837 sarcomatoid transitional cell carcinoma skos:exactMatch DOID:4014 sarcomatoid transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0002837 sarcomatoid transitional cell carcinoma skos:exactMatch NCIT:C4120 Sarcomatoid Transitional Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002837 sarcomatoid transitional cell carcinoma skos:exactMatch UMLS:C0334271 semapv:UnspecifiedMatching MONDO:0002839 leather-bottle stomach skos:exactMatch DOID:4023 linitis plastica semapv:UnspecifiedMatching MONDO:0002839 leather-bottle stomach skos:exactMatch NCIT:C3190 Linitis Plastica semapv:UnspecifiedMatching MONDO:0002839 leather-bottle stomach skos:exactMatch UMLS:C0023743 semapv:UnspecifiedMatching MONDO:0002839 leather-bottle stomach skos:exactMatch mesh:D008039 semapv:UnspecifiedMatching MONDO:0002840 eosinophilic gastritis skos:exactMatch DOID:4030 eosinophilic gastritis semapv:UnspecifiedMatching MONDO:0002840 eosinophilic gastritis skos:exactMatch NCIT:C27052 Eosinophilic Gastritis semapv:UnspecifiedMatching MONDO:0002840 eosinophilic gastritis skos:exactMatch SCTID:66329006 semapv:UnspecifiedMatching MONDO:0002840 eosinophilic gastritis skos:exactMatch UMLS:C0267154 semapv:UnspecifiedMatching MONDO:0002842 bacterial gastritis skos:exactMatch DOID:4033 bacterial gastritis semapv:UnspecifiedMatching MONDO:0002842 bacterial gastritis skos:exactMatch NCIT:C27340 Bacterial Gastritis semapv:UnspecifiedMatching MONDO:0002842 bacterial gastritis skos:exactMatch SCTID:723096000 semapv:UnspecifiedMatching MONDO:0002842 bacterial gastritis skos:exactMatch UMLS:C0948039 semapv:UnspecifiedMatching MONDO:0002843 fungal gastritis skos:exactMatch DOID:4034 fungal gastritis semapv:UnspecifiedMatching MONDO:0002843 fungal gastritis skos:exactMatch NCIT:C27342 Fungal Gastritis semapv:UnspecifiedMatching MONDO:0002843 fungal gastritis skos:exactMatch SCTID:723097009 semapv:UnspecifiedMatching MONDO:0002843 fungal gastritis skos:exactMatch UMLS:C0948638 semapv:UnspecifiedMatching MONDO:0002844 lymphocytic gastritis skos:exactMatch DOID:4035 lymphocytic gastritis semapv:UnspecifiedMatching MONDO:0002844 lymphocytic gastritis skos:exactMatch NCIT:C27051 Lymphocytic Gastritis semapv:UnspecifiedMatching MONDO:0002844 lymphocytic gastritis skos:exactMatch SCTID:360375007 semapv:UnspecifiedMatching MONDO:0002844 lymphocytic gastritis skos:exactMatch UMLS:C1283271 semapv:UnspecifiedMatching MONDO:0002845 necrotizing gastritis skos:exactMatch DOID:4037 necrotizing gastritis semapv:UnspecifiedMatching MONDO:0002845 necrotizing gastritis skos:exactMatch NCIT:C27329 Necrotizing Gastritis semapv:UnspecifiedMatching MONDO:0002845 necrotizing gastritis skos:exactMatch UMLS:C0877152 semapv:UnspecifiedMatching MONDO:0002846 granulomatous gastritis skos:exactMatch DOID:4038 granulomatous gastritis semapv:UnspecifiedMatching MONDO:0002846 granulomatous gastritis skos:exactMatch NCIT:C27348 Granulomatous Gastritis semapv:UnspecifiedMatching MONDO:0002846 granulomatous gastritis skos:exactMatch UMLS:C1112577 semapv:UnspecifiedMatching MONDO:0002847 skeletal muscle cancer skos:exactMatch DOID:4043 skeletal muscle cancer semapv:UnspecifiedMatching MONDO:0002847 skeletal muscle cancer skos:exactMatch NCIT:C6516 Malignant Skeletal Muscle Neoplasm semapv:UnspecifiedMatching MONDO:0002847 skeletal muscle cancer skos:exactMatch UMLS:C1334619 semapv:UnspecifiedMatching MONDO:0002848 skeletal muscle neoplasm skos:exactMatch DOID:4044 skeletal muscle neoplasm semapv:UnspecifiedMatching MONDO:0002848 skeletal muscle neoplasm skos:exactMatch NCIT:C6514 Skeletal Muscle Neoplasm semapv:UnspecifiedMatching MONDO:0002848 skeletal muscle neoplasm skos:exactMatch SCTID:699955004 semapv:UnspecifiedMatching MONDO:0002848 skeletal muscle neoplasm skos:exactMatch UMLS:C1335971 semapv:UnspecifiedMatching MONDO:0002849 liver rhabdomyosarcoma skos:exactMatch DOID:4047 liver rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002849 liver rhabdomyosarcoma skos:exactMatch NCIT:C5834 Liver Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002849 liver rhabdomyosarcoma skos:exactMatch UMLS:C1333975 semapv:UnspecifiedMatching MONDO:0002850 central nervous system rhabdomyosarcoma skos:exactMatch DOID:4048 central nervous system rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002850 central nervous system rhabdomyosarcoma skos:exactMatch NCIT:C5464 Central Nervous System Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002850 central nervous system rhabdomyosarcoma skos:exactMatch UMLS:C1332891 semapv:UnspecifiedMatching MONDO:0002851 mediastinum rhabdomyosarcoma skos:exactMatch DOID:4049 mediastinum rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002851 mediastinum rhabdomyosarcoma skos:exactMatch NCIT:C6617 Mediastinal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002851 mediastinum rhabdomyosarcoma skos:exactMatch UMLS:C1334677 semapv:UnspecifiedMatching MONDO:0002852 mediastinum sarcoma skos:exactMatch DOID:4050 mediastinum sarcoma semapv:UnspecifiedMatching MONDO:0002852 mediastinum sarcoma skos:exactMatch NCIT:C6606 Mediastinal Sarcoma semapv:UnspecifiedMatching MONDO:0002852 mediastinum sarcoma skos:exactMatch UMLS:C1334678 semapv:UnspecifiedMatching MONDO:0002853 rectum rhabdomyosarcoma skos:exactMatch DOID:4053 rectum rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002853 rectum rhabdomyosarcoma skos:exactMatch NCIT:C5627 Rectal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002853 rectum rhabdomyosarcoma skos:exactMatch UMLS:C1335687 semapv:UnspecifiedMatching MONDO:0002854 prostate sarcoma skos:exactMatch DOID:4054 prostate sarcoma semapv:UnspecifiedMatching MONDO:0002854 prostate sarcoma skos:exactMatch NCIT:C7731 Prostate Sarcoma semapv:UnspecifiedMatching MONDO:0002854 prostate sarcoma skos:exactMatch UMLS:C0238393 semapv:UnspecifiedMatching MONDO:0002855 ectomesenchymoma skos:exactMatch DOID:4055 ectomesenchymoma semapv:UnspecifiedMatching MONDO:0002855 ectomesenchymoma skos:exactMatch NCIT:C4716 Ectomesenchymoma semapv:UnspecifiedMatching MONDO:0002855 ectomesenchymoma skos:exactMatch UMLS:C0431111 semapv:UnspecifiedMatching MONDO:0002856 gallbladder rhabdomyosarcoma skos:exactMatch DOID:4057 gallbladder rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002856 gallbladder rhabdomyosarcoma skos:exactMatch NCIT:C5839 Gallbladder Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002856 gallbladder rhabdomyosarcoma skos:exactMatch UMLS:C1333756 semapv:UnspecifiedMatching MONDO:0002857 gallbladder sarcoma skos:exactMatch DOID:4058 gallbladder sarcoma semapv:UnspecifiedMatching MONDO:0002857 gallbladder sarcoma skos:exactMatch NCIT:C5736 Gallbladder Sarcoma semapv:UnspecifiedMatching MONDO:0002857 gallbladder sarcoma skos:exactMatch UMLS:C1333757 semapv:UnspecifiedMatching MONDO:0002858 ovary rhabdomyosarcoma skos:exactMatch DOID:4059 ovary rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002858 ovary rhabdomyosarcoma skos:exactMatch NCIT:C5236 Ovarian Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002858 ovary rhabdomyosarcoma skos:exactMatch UMLS:C1335176 semapv:UnspecifiedMatching MONDO:0002859 breast rhabdomyosarcoma skos:exactMatch DOID:4060 breast rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002859 breast rhabdomyosarcoma skos:exactMatch NCIT:C5190 Breast Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002859 breast rhabdomyosarcoma skos:exactMatch UMLS:C1332637 semapv:UnspecifiedMatching MONDO:0002860 testis rhabdomyosarcoma skos:exactMatch DOID:4061 testis rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002860 testis rhabdomyosarcoma skos:exactMatch NCIT:C6378 Testicular Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002860 testis rhabdomyosarcoma skos:exactMatch UMLS:C1336726 semapv:UnspecifiedMatching MONDO:0002861 testis sarcoma skos:exactMatch DOID:4062 testis sarcoma semapv:UnspecifiedMatching MONDO:0002861 testis sarcoma skos:exactMatch NCIT:C6359 Testicular Sarcoma semapv:UnspecifiedMatching MONDO:0002861 testis sarcoma skos:exactMatch UMLS:C1336727 semapv:UnspecifiedMatching MONDO:0002862 bile duct sarcoma skos:exactMatch DOID:4064 bile duct sarcoma semapv:UnspecifiedMatching MONDO:0002863 rhabdomyosarcoma with mixed embryonal and alveolar features skos:exactMatch DOID:4065 mixed type rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002863 rhabdomyosarcoma with mixed embryonal and alveolar features skos:exactMatch NCIT:C4259 Rhabdomyosarcoma with Mixed Embryonal and Alveolar Features semapv:UnspecifiedMatching MONDO:0002863 rhabdomyosarcoma with mixed embryonal and alveolar features skos:exactMatch UMLS:C1709053 semapv:UnspecifiedMatching MONDO:0002864 anus rhabdomyosarcoma skos:exactMatch DOID:4066 anus rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002864 anus rhabdomyosarcoma skos:exactMatch NCIT:C5610 Anal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002864 anus rhabdomyosarcoma skos:exactMatch UMLS:C1332276 semapv:UnspecifiedMatching MONDO:0002865 anus sarcoma skos:exactMatch DOID:4067 anus sarcoma semapv:UnspecifiedMatching MONDO:0002865 anus sarcoma skos:exactMatch NCIT:C5611 Anal Sarcoma semapv:UnspecifiedMatching MONDO:0002865 anus sarcoma skos:exactMatch UMLS:C1332277 semapv:UnspecifiedMatching MONDO:0002866 duodenal disorder skos:exactMatch DOID:4072 duodenum disease semapv:UnspecifiedMatching MONDO:0002866 duodenal disorder skos:exactMatch SCTID:52182008 semapv:UnspecifiedMatching MONDO:0002866 duodenal disorder skos:exactMatch UMLS:C0013289 semapv:UnspecifiedMatching MONDO:0002866 duodenal disorder skos:exactMatch mesh:D004378 semapv:UnspecifiedMatching MONDO:0002867 pancreatic cystadenocarcinoma skos:exactMatch DOID:4073 pancreatic cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002867 pancreatic cystadenocarcinoma skos:exactMatch NCIT:C3874 Pancreatic Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002867 pancreatic cystadenocarcinoma skos:exactMatch SCTID:235966007 semapv:UnspecifiedMatching MONDO:0002867 pancreatic cystadenocarcinoma skos:exactMatch UMLS:C0238337 semapv:UnspecifiedMatching MONDO:0002868 bile duct mucinous cystic neoplasm with an associated invasive carcinoma skos:exactMatch DOID:4075 bile duct cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0002868 bile duct mucinous cystic neoplasm with an associated invasive carcinoma skos:exactMatch NCIT:C4130 Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma semapv:UnspecifiedMatching MONDO:0002868 bile duct mucinous cystic neoplasm with an associated invasive carcinoma skos:exactMatch UMLS:C0334286 semapv:UnspecifiedMatching MONDO:0002869 heart valve disorder skos:exactMatch DOID:4079 heart valve disease semapv:UnspecifiedMatching MONDO:0002869 heart valve disorder skos:exactMatch NCIT:C45525 Valvular Heart Disorder semapv:UnspecifiedMatching MONDO:0002869 heart valve disorder skos:exactMatch SCTID:368009 semapv:UnspecifiedMatching MONDO:0002869 heart valve disorder skos:exactMatch UMLS:C0018824 semapv:UnspecifiedMatching MONDO:0002869 heart valve disorder skos:exactMatch mesh:D006349 semapv:UnspecifiedMatching MONDO:0002870 tricuspid valve insufficiency skos:exactMatch DOID:4080 tricuspid valve insufficiency semapv:UnspecifiedMatching MONDO:0002870 tricuspid valve insufficiency skos:exactMatch NCIT:C50842 Tricuspid Valve Insufficiency semapv:UnspecifiedMatching MONDO:0002870 tricuspid valve insufficiency skos:exactMatch SCTID:111287006 semapv:UnspecifiedMatching MONDO:0002870 tricuspid valve insufficiency skos:exactMatch UMLS:C0040961 semapv:UnspecifiedMatching MONDO:0002870 tricuspid valve insufficiency skos:exactMatch mesh:D014262 semapv:UnspecifiedMatching MONDO:0002871 testicular trophoblastic tumor skos:exactMatch DOID:4084 testicular trophoblastic tumor semapv:UnspecifiedMatching MONDO:0002871 testicular trophoblastic tumor skos:exactMatch NCIT:C39934 Testicular Trophoblastic Tumor semapv:UnspecifiedMatching MONDO:0002871 testicular trophoblastic tumor skos:exactMatch UMLS:C1515301 semapv:UnspecifiedMatching MONDO:0002872 trophoblastic neoplasm skos:exactMatch DOID:4085 trophoblastic neoplasm semapv:UnspecifiedMatching MONDO:0002872 trophoblastic neoplasm skos:exactMatch NCIT:C3422 Trophoblastic Tumor semapv:UnspecifiedMatching MONDO:0002872 trophoblastic neoplasm skos:exactMatch UMLS:C0041182 semapv:UnspecifiedMatching MONDO:0002872 trophoblastic neoplasm skos:exactMatch mesh:D014328 semapv:UnspecifiedMatching MONDO:0002874 testicular pure germ cell tumor skos:exactMatch DOID:4087 testicular pure germ cell tumor semapv:UnspecifiedMatching MONDO:0002874 testicular pure germ cell tumor skos:exactMatch NCIT:C39915 Testicular Pure Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0002874 testicular pure germ cell tumor skos:exactMatch UMLS:C1514608 semapv:UnspecifiedMatching MONDO:0002875 parasitic ectoparasitic infectious disease skos:exactMatch DOID:4110 parasitic ectoparasitic infectious disease semapv:UnspecifiedMatching MONDO:0002875 parasitic ectoparasitic infectious disease skos:exactMatch ICD10CM:B85-B89 Pediculosis, acariasis and other infestations (B85-B89) semapv:UnspecifiedMatching MONDO:0002875 parasitic ectoparasitic infectious disease skos:exactMatch UMLS:C0013578 semapv:UnspecifiedMatching MONDO:0002875 parasitic ectoparasitic infectious disease skos:exactMatch mesh:D004478 semapv:UnspecifiedMatching MONDO:0002876 cervical adenosarcoma skos:exactMatch DOID:4111 cervical adenosarcoma semapv:UnspecifiedMatching MONDO:0002876 cervical adenosarcoma skos:exactMatch NCIT:C40229 Cervical Adenosarcoma semapv:UnspecifiedMatching MONDO:0002876 cervical adenosarcoma skos:exactMatch Orphanet:213792 Adenosarcoma of the cervix uteri semapv:UnspecifiedMatching MONDO:0002876 cervical adenosarcoma skos:exactMatch SCTID:764847000 semapv:UnspecifiedMatching MONDO:0002876 cervical adenosarcoma skos:exactMatch UMLS:C1516426 semapv:UnspecifiedMatching MONDO:0002877 cervical carcinosarcoma skos:exactMatch DOID:4112 cervical carcinosarcoma semapv:UnspecifiedMatching MONDO:0002877 cervical carcinosarcoma skos:exactMatch NCIT:C36097 Cervical Carcinosarcoma semapv:UnspecifiedMatching MONDO:0002877 cervical carcinosarcoma skos:exactMatch Orphanet:213787 Carcinosarcoma of the cervix uteri semapv:UnspecifiedMatching MONDO:0002877 cervical carcinosarcoma skos:exactMatch SCTID:764951002 semapv:UnspecifiedMatching MONDO:0002877 cervical carcinosarcoma skos:exactMatch UMLS:C1332917 semapv:UnspecifiedMatching MONDO:0002878 uterine corpus adenosarcoma skos:exactMatch DOID:4113 uterine corpus adenosarcoma semapv:UnspecifiedMatching MONDO:0002878 uterine corpus adenosarcoma skos:exactMatch NCIT:C6336 Uterine Corpus Adenosarcoma semapv:UnspecifiedMatching MONDO:0002878 uterine corpus adenosarcoma skos:exactMatch Orphanet:213600 Adenosarcoma of the corpus uteri semapv:UnspecifiedMatching MONDO:0002878 uterine corpus adenosarcoma skos:exactMatch UMLS:C1336917 semapv:UnspecifiedMatching MONDO:0002878 uterine corpus adenosarcoma skos:exactMatch mesh:C538232 semapv:UnspecifiedMatching MONDO:0002879 uterine body mixed cancer skos:exactMatch DOID:4114 uterine body mixed cancer semapv:UnspecifiedMatching MONDO:0002879 uterine body mixed cancer skos:exactMatch NCIT:C6311 Malignant Uterine Corpus Mixed Epithelial and Mesenchymal Neoplasm semapv:UnspecifiedMatching MONDO:0002879 uterine body mixed cancer skos:exactMatch UMLS:C1334628 semapv:UnspecifiedMatching MONDO:0002880 ovarian adenosarcoma skos:exactMatch DOID:4115 ovarian mesodermal adenosarcoma semapv:UnspecifiedMatching MONDO:0002880 ovarian adenosarcoma skos:exactMatch NCIT:C7317 Ovarian Adenosarcoma semapv:UnspecifiedMatching MONDO:0002880 ovarian adenosarcoma skos:exactMatch UMLS:C1335169 semapv:UnspecifiedMatching MONDO:0002881 vaginal adenosarcoma skos:exactMatch DOID:4117 vaginal adenosarcoma semapv:UnspecifiedMatching MONDO:0002881 vaginal adenosarcoma skos:exactMatch NCIT:C40277 Vaginal Adenosarcoma semapv:UnspecifiedMatching MONDO:0002881 vaginal adenosarcoma skos:exactMatch UMLS:C1519914 semapv:UnspecifiedMatching MONDO:0002882 colon neuroendocrine neoplasm skos:exactMatch DOID:4118 colon neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO:0002882 colon neuroendocrine neoplasm skos:exactMatch NCIT:C5697 Colon Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0002882 colon neuroendocrine neoplasm skos:exactMatch Orphanet:100080 Neuroendocrine tumor of the colon semapv:UnspecifiedMatching MONDO:0002882 colon neuroendocrine neoplasm skos:exactMatch UMLS:C1333097 semapv:UnspecifiedMatching MONDO:0002883 intestinal neuroendocrine neoplasm skos:exactMatch DOID:4119 intestinal neuroendocrine benign tumor semapv:UnspecifiedMatching MONDO:0002883 intestinal neuroendocrine neoplasm skos:exactMatch NCIT:C5695 Intestinal Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0002883 intestinal neuroendocrine neoplasm skos:exactMatch UMLS:C1334231 semapv:UnspecifiedMatching MONDO:0002884 nail disorder skos:exactMatch DOID:4123 nail disease semapv:UnspecifiedMatching MONDO:0002884 nail disorder skos:exactMatch SCTID:17790008 semapv:UnspecifiedMatching MONDO:0002884 nail disorder skos:exactMatch UMLS:C0027339 semapv:UnspecifiedMatching MONDO:0002884 nail disorder skos:exactMatch mesh:D009260 semapv:UnspecifiedMatching MONDO:0002885 erythrasma skos:exactMatch DOID:4131 erythrasma semapv:UnspecifiedMatching MONDO:0002885 erythrasma skos:exactMatch ICD10CM:L08.1 Erythrasma semapv:UnspecifiedMatching MONDO:0002885 erythrasma skos:exactMatch SCTID:264207005 semapv:UnspecifiedMatching MONDO:0002885 erythrasma skos:exactMatch UMLS:C0014752 semapv:UnspecifiedMatching MONDO:0002885 erythrasma skos:exactMatch mesh:D004894 semapv:UnspecifiedMatching MONDO:0002886 common bile duct disorder skos:exactMatch DOID:4137 common bile duct disease semapv:UnspecifiedMatching MONDO:0002886 common bile duct disorder skos:exactMatch UMLS:C0009440 semapv:UnspecifiedMatching MONDO:0002886 common bile duct disorder skos:exactMatch mesh:D003137 semapv:UnspecifiedMatching MONDO:0002887 bile duct disorder skos:exactMatch DOID:4138 bile duct disease semapv:UnspecifiedMatching MONDO:0002887 bile duct disorder skos:exactMatch NCIT:C96716 Bile Duct Disorder semapv:UnspecifiedMatching MONDO:0002887 bile duct disorder skos:exactMatch SCTID:118926004 semapv:UnspecifiedMatching MONDO:0002887 bile duct disorder skos:exactMatch UMLS:C0005395 semapv:UnspecifiedMatching MONDO:0002887 bile duct disorder skos:exactMatch mesh:D001649 semapv:UnspecifiedMatching MONDO:0002888 intraorbital meningioma skos:exactMatch DOID:4141 intraorbital meningioma semapv:UnspecifiedMatching MONDO:0002888 intraorbital meningioma skos:exactMatch NCIT:C6778 Intraorbital Meningioma semapv:UnspecifiedMatching MONDO:0002888 intraorbital meningioma skos:exactMatch UMLS:C1334261 semapv:UnspecifiedMatching MONDO:0002889 orbital cancer skos:exactMatch DOID:4143 orbital cancer semapv:UnspecifiedMatching MONDO:0002889 orbital cancer skos:exactMatch NCIT:C3562 Malignant Orbit Neoplasm semapv:UnspecifiedMatching MONDO:0002889 orbital cancer skos:exactMatch SCTID:127003006 semapv:UnspecifiedMatching MONDO:0002891 obsolete gastrointestinal neuroendocrine benign tumor skos:exactMatch DOID:4148 gastrointestinal neuroendocrine benign tumor semapv:UnspecifiedMatching MONDO:0002892 skull base chordoma skos:exactMatch DOID:4151 skull base chordoma semapv:UnspecifiedMatching MONDO:0002892 skull base chordoma skos:exactMatch NCIT:C5453 Skull Base Chordoma semapv:UnspecifiedMatching MONDO:0002892 skull base chordoma skos:exactMatch UMLS:C1335975 semapv:UnspecifiedMatching MONDO:0002894 spinal chordoma skos:exactMatch DOID:4153 spinal chordoma semapv:UnspecifiedMatching MONDO:0002894 spinal chordoma skos:exactMatch NCIT:C5156 Spinal Chordoma semapv:UnspecifiedMatching MONDO:0002894 spinal chordoma skos:exactMatch UMLS:C1859101 semapv:UnspecifiedMatching MONDO:0002896 primary syphilis skos:exactMatch DOID:4156 primary syphilis semapv:UnspecifiedMatching MONDO:0002896 primary syphilis skos:exactMatch NCIT:C128412 Primary Syphilis semapv:UnspecifiedMatching MONDO:0002896 primary syphilis skos:exactMatch SCTID:186846005 semapv:UnspecifiedMatching MONDO:0002896 primary syphilis skos:exactMatch UMLS:C2931317 semapv:UnspecifiedMatching MONDO:0002896 primary syphilis skos:exactMatch mesh:C536772 semapv:UnspecifiedMatching MONDO:0002897 secondary syphilis skos:exactMatch DOID:4157 secondary syphilis semapv:UnspecifiedMatching MONDO:0002897 secondary syphilis skos:exactMatch NCIT:C128413 Secondary Syphilis semapv:UnspecifiedMatching MONDO:0002897 secondary syphilis skos:exactMatch SCTID:240557004 semapv:UnspecifiedMatching MONDO:0002897 secondary syphilis skos:exactMatch UMLS:C0149985 semapv:UnspecifiedMatching MONDO:0002897 secondary syphilis skos:exactMatch mesh:C536773 semapv:UnspecifiedMatching MONDO:0002898 skin cancer skos:exactMatch DOID:4159 skin cancer semapv:UnspecifiedMatching MONDO:0002898 skin cancer skos:exactMatch ICD10CM:C43-C44 Melanoma and other malignant neoplasms of skin (C43-C44) semapv:UnspecifiedMatching MONDO:0002898 skin cancer skos:exactMatch NCIT:C2920 Malignant Skin Neoplasm semapv:UnspecifiedMatching MONDO:0002898 skin cancer skos:exactMatch SCTID:372130007 semapv:UnspecifiedMatching MONDO:0002898 skin cancer skos:exactMatch UMLS:C0007114 semapv:UnspecifiedMatching MONDO:0002899 differentiating neuroblastoma skos:exactMatch DOID:4160 differentiating neuroblastoma semapv:UnspecifiedMatching MONDO:0002899 differentiating neuroblastoma skos:exactMatch NCIT:C42048 Differentiating Neuroblastoma semapv:UnspecifiedMatching MONDO:0002899 differentiating neuroblastoma skos:exactMatch UMLS:C1511934 semapv:UnspecifiedMatching MONDO:0002900 cerebral neuroblastoma skos:exactMatch DOID:0080905 central nervous system neuroblastoma semapv:UnspecifiedMatching MONDO:0002900 cerebral neuroblastoma skos:exactMatch DOID:4164 cerebral neuroblastoma semapv:UnspecifiedMatching MONDO:0002900 cerebral neuroblastoma skos:exactMatch NCIT:C4826 Central Nervous System Neuroblastoma semapv:UnspecifiedMatching MONDO:0002900 cerebral neuroblastoma skos:exactMatch SCTID:281560004 semapv:UnspecifiedMatching MONDO:0002900 cerebral neuroblastoma skos:exactMatch UMLS:C0559458 semapv:UnspecifiedMatching MONDO:0002901 blood group incompatibility skos:exactMatch DOID:4176 blood group incompatibility semapv:UnspecifiedMatching MONDO:0002901 blood group incompatibility skos:exactMatch UMLS:C0005806 semapv:UnspecifiedMatching MONDO:0002903 articulation disorder skos:exactMatch DOID:4186 articulation disorder semapv:UnspecifiedMatching MONDO:0002903 articulation disorder skos:exactMatch NCIT:C92564 Phonological Disorder semapv:UnspecifiedMatching MONDO:0002903 articulation disorder skos:exactMatch SCTID:386701004 semapv:UnspecifiedMatching MONDO:0002903 articulation disorder skos:exactMatch mesh:D001184 semapv:UnspecifiedMatching MONDO:0002904 echolalia skos:exactMatch DOID:4188 echolalia semapv:UnspecifiedMatching MONDO:0002904 echolalia skos:exactMatch mesh:D004454 semapv:UnspecifiedMatching MONDO:0002905 mutism skos:exactMatch DOID:4189 mutism semapv:UnspecifiedMatching MONDO:0002905 mutism skos:exactMatch UMLS:C0026884 semapv:UnspecifiedMatching MONDO:0002905 mutism skos:exactMatch mesh:D009155 semapv:UnspecifiedMatching MONDO:0002907 intracranial thrombosis skos:exactMatch DOID:4193 intracranial thrombosis semapv:UnspecifiedMatching MONDO:0002907 intracranial thrombosis skos:exactMatch SCTID:71444005 semapv:UnspecifiedMatching MONDO:0002907 intracranial thrombosis skos:exactMatch UMLS:C0752143 semapv:UnspecifiedMatching MONDO:0002907 intracranial thrombosis skos:exactMatch mesh:D020767 semapv:UnspecifiedMatching MONDO:0002908 glucose metabolism disease skos:exactMatch DOID:4194 glucose metabolism disease semapv:UnspecifiedMatching MONDO:0002908 glucose metabolism disease skos:exactMatch NCIT:C53655 Glucose Metabolism Disorder semapv:UnspecifiedMatching MONDO:0002908 glucose metabolism disease skos:exactMatch SCTID:126877002 semapv:UnspecifiedMatching MONDO:0002908 glucose metabolism disease skos:exactMatch UMLS:C1257958 semapv:UnspecifiedMatching MONDO:0002908 glucose metabolism disease skos:exactMatch mesh:D044882 semapv:UnspecifiedMatching MONDO:0002909 hyperglycemia skos:exactMatch DOID:4195 hyperglycemia semapv:UnspecifiedMatching MONDO:0002909 hyperglycemia skos:exactMatch SCTID:80394007 semapv:UnspecifiedMatching MONDO:0002909 hyperglycemia skos:exactMatch UMLS:C0020456 semapv:UnspecifiedMatching MONDO:0002909 hyperglycemia skos:exactMatch mesh:D006943 semapv:UnspecifiedMatching MONDO:0002910 peroneal neuropathy skos:exactMatch DOID:4201 peroneal neuropathy semapv:UnspecifiedMatching MONDO:0002910 peroneal neuropathy skos:exactMatch NCIT:C27596 Peroneal Neuropathy semapv:UnspecifiedMatching MONDO:0002910 peroneal neuropathy skos:exactMatch UMLS:C0747533 semapv:UnspecifiedMatching MONDO:0002910 peroneal neuropathy skos:exactMatch mesh:D020427 semapv:UnspecifiedMatching MONDO:0002911 brain stem glioma skos:exactMatch DOID:4202 brain stem glioma semapv:UnspecifiedMatching MONDO:0002911 brain stem glioma skos:exactMatch NCIT:C8501 Brain Stem Glioma semapv:UnspecifiedMatching MONDO:0002911 brain stem glioma skos:exactMatch SCTID:444545003 semapv:UnspecifiedMatching MONDO:0002911 brain stem glioma skos:exactMatch UMLS:C0677865 semapv:UnspecifiedMatching MONDO:0002912 brainstem cancer skos:exactMatch DOID:4203 brain stem cancer semapv:UnspecifiedMatching MONDO:0002912 brainstem cancer skos:exactMatch NCIT:C3570 Malignant Brain Stem Neoplasm semapv:UnspecifiedMatching MONDO:0002912 brainstem cancer skos:exactMatch SCTID:363473003 semapv:UnspecifiedMatching MONDO:0002912 brainstem cancer skos:exactMatch mesh:D020295 semapv:UnspecifiedMatching MONDO:0002913 cerebellar neoplasm skos:exactMatch DOID:4205 cerebellum cancer semapv:UnspecifiedMatching MONDO:0002913 cerebellar neoplasm skos:exactMatch NCIT:C2935 Cerebellar Neoplasm semapv:UnspecifiedMatching MONDO:0002913 cerebellar neoplasm skos:exactMatch SCTID:126960003 semapv:UnspecifiedMatching MONDO:0002913 cerebellar neoplasm skos:exactMatch UMLS:C0007762 semapv:UnspecifiedMatching MONDO:0002913 cerebellar neoplasm skos:exactMatch mesh:D002528 semapv:UnspecifiedMatching MONDO:0002914 childhood brain stem neoplasm skos:exactMatch DOID:4206 childhood brain stem neoplasm semapv:UnspecifiedMatching MONDO:0002914 childhood brain stem neoplasm skos:exactMatch NCIT:C5969 Childhood Brain Stem Neoplasm semapv:UnspecifiedMatching MONDO:0002914 childhood brain stem neoplasm skos:exactMatch UMLS:C1332951 semapv:UnspecifiedMatching MONDO:0002915 childhood infratentorial neoplasm skos:exactMatch DOID:4207 childhood infratentorial neoplasm semapv:UnspecifiedMatching MONDO:0002915 childhood infratentorial neoplasm skos:exactMatch NCIT:C5802 Childhood Infratentorial Neoplasm semapv:UnspecifiedMatching MONDO:0002915 childhood infratentorial neoplasm skos:exactMatch UMLS:C1332973 semapv:UnspecifiedMatching MONDO:0002916 brainstem intraparenchymal clear cell meningioma skos:exactMatch DOID:4209 brainstem intraparenchymal clear cell meningioma semapv:UnspecifiedMatching MONDO:0002916 brainstem intraparenchymal clear cell meningioma skos:exactMatch NCIT:C5295 Brain Stem Intraparenchymal Clear Cell Meningioma semapv:UnspecifiedMatching MONDO:0002916 brainstem intraparenchymal clear cell meningioma skos:exactMatch UMLS:C1332612 semapv:UnspecifiedMatching MONDO:0002917 disorder of pilosebaceous unit skos:exactMatch DOID:421 hair disease semapv:UnspecifiedMatching MONDO:0002917 disorder of pilosebaceous unit skos:exactMatch NCIT:C34656 Hair Disorder semapv:UnspecifiedMatching MONDO:0002917 disorder of pilosebaceous unit skos:exactMatch SCTID:201128002 semapv:UnspecifiedMatching MONDO:0002917 disorder of pilosebaceous unit skos:exactMatch UMLS:C0018500 semapv:UnspecifiedMatching MONDO:0002917 disorder of pilosebaceous unit skos:exactMatch UMLS:C0554472 semapv:UnspecifiedMatching MONDO:0002917 disorder of pilosebaceous unit skos:exactMatch mesh:D006201 semapv:UnspecifiedMatching MONDO:0002918 clear cell meningioma skos:exactMatch DOID:4210 clear cell meningioma semapv:UnspecifiedMatching MONDO:0002918 clear cell meningioma skos:exactMatch NCIT:C4722 Clear Cell Meningioma semapv:UnspecifiedMatching MONDO:0002918 clear cell meningioma skos:exactMatch UMLS:C0431121 semapv:UnspecifiedMatching MONDO:0002919 posterior cranial fossa meningioma skos:exactMatch DOID:4211 posterior fossa meningioma semapv:UnspecifiedMatching MONDO:0002919 posterior cranial fossa meningioma skos:exactMatch NCIT:C6775 Posterior Fossa Meningioma semapv:UnspecifiedMatching MONDO:0002919 posterior cranial fossa meningioma skos:exactMatch UMLS:C1565950 semapv:UnspecifiedMatching MONDO:0002920 malignant ovarian Brenner tumor skos:exactMatch DOID:4217 malignant ovarian Brenner tumor semapv:UnspecifiedMatching MONDO:0002920 malignant ovarian Brenner tumor skos:exactMatch NCIT:C4270 Malignant Ovarian Brenner Tumor semapv:UnspecifiedMatching MONDO:0002920 malignant ovarian Brenner tumor skos:exactMatch UMLS:C0334495 semapv:UnspecifiedMatching MONDO:0002921 congenital structural myopathy skos:exactMatch DOID:422 congenital structural myopathy semapv:UnspecifiedMatching MONDO:0002921 congenital structural myopathy skos:exactMatch NCIT:C84648 Congenital Structural Myopathy semapv:UnspecifiedMatching MONDO:0002921 congenital structural myopathy skos:exactMatch UMLS:C0752282 semapv:UnspecifiedMatching MONDO:0002921 congenital structural myopathy skos:exactMatch mesh:D020914 semapv:UnspecifiedMatching MONDO:0002922 pyoderma skos:exactMatch DOID:4223 pyoderma semapv:UnspecifiedMatching MONDO:0002922 pyoderma skos:exactMatch ICD10CM:L08.0 Pyoderma semapv:UnspecifiedMatching MONDO:0002922 pyoderma skos:exactMatch SCTID:70759006 semapv:UnspecifiedMatching MONDO:0002922 pyoderma skos:exactMatch UMLS:C0034212 semapv:UnspecifiedMatching MONDO:0002922 pyoderma skos:exactMatch mesh:D011711 semapv:UnspecifiedMatching MONDO:0002923 uterine corpus endometrial stromal sarcoma skos:exactMatch DOID:4227 uterine corpus endometrial stromal sarcoma semapv:UnspecifiedMatching MONDO:0002923 uterine corpus endometrial stromal sarcoma skos:exactMatch NCIT:C40219 Uterine Corpus Endometrial Stromal Sarcoma semapv:UnspecifiedMatching MONDO:0002923 uterine corpus endometrial stromal sarcoma skos:exactMatch UMLS:C1519849 semapv:UnspecifiedMatching MONDO:0002924 smooth muscle cancer skos:exactMatch DOID:4230 smooth muscle cancer semapv:UnspecifiedMatching MONDO:0002924 smooth muscle cancer skos:exactMatch NCIT:C6511 Malignant Smooth Muscle Neoplasm semapv:UnspecifiedMatching MONDO:0002924 smooth muscle cancer skos:exactMatch UMLS:C1334620 semapv:UnspecifiedMatching MONDO:0002926 clear cell sarcoma skos:exactMatch DOID:4233 clear cell sarcoma semapv:UnspecifiedMatching MONDO:0002926 clear cell sarcoma skos:exactMatch NCIT:C3745 Clear Cell Sarcoma of Soft Tissue semapv:UnspecifiedMatching MONDO:0002926 clear cell sarcoma skos:exactMatch SCTID:402561003 semapv:UnspecifiedMatching MONDO:0002926 clear cell sarcoma skos:exactMatch UMLS:C0206651 semapv:UnspecifiedMatching MONDO:0002926 clear cell sarcoma skos:exactMatch mesh:D018227 semapv:UnspecifiedMatching MONDO:0002927 spindle cell sarcoma skos:exactMatch DOID:4235 spindle cell sarcoma semapv:UnspecifiedMatching MONDO:0002927 spindle cell sarcoma skos:exactMatch NCIT:C27005 Spindle Cell Sarcoma semapv:UnspecifiedMatching MONDO:0002927 spindle cell sarcoma skos:exactMatch UMLS:C0205945 semapv:UnspecifiedMatching MONDO:0002928 carcinosarcoma skos:exactMatch DOID:4236 carcinosarcoma semapv:UnspecifiedMatching MONDO:0002928 carcinosarcoma skos:exactMatch NCIT:C34448 Carcinosarcoma semapv:UnspecifiedMatching MONDO:0002928 carcinosarcoma skos:exactMatch UMLS:C0007140 semapv:UnspecifiedMatching MONDO:0002928 carcinosarcoma skos:exactMatch mesh:D002296 semapv:UnspecifiedMatching MONDO:0002929 pulmonary immaturity skos:exactMatch DOID:424 pulmonary immaturity semapv:UnspecifiedMatching MONDO:0002929 pulmonary immaturity skos:exactMatch SCTID:42908004 semapv:UnspecifiedMatching MONDO:0002930 kidney sarcoma skos:exactMatch DOID:4242 kidney sarcoma semapv:UnspecifiedMatching MONDO:0002930 kidney sarcoma skos:exactMatch NCIT:C4525 Kidney Sarcoma semapv:UnspecifiedMatching MONDO:0002930 kidney sarcoma skos:exactMatch SCTID:254918001 semapv:UnspecifiedMatching MONDO:0002930 kidney sarcoma skos:exactMatch UMLS:C0346251 semapv:UnspecifiedMatching MONDO:0002931 conjunctivochalasis skos:exactMatch DOID:4250 conjunctivochalasis semapv:UnspecifiedMatching MONDO:0002931 conjunctivochalasis skos:exactMatch SCTID:408663001 semapv:UnspecifiedMatching MONDO:0002931 conjunctivochalasis skos:exactMatch UMLS:C0878693 semapv:UnspecifiedMatching MONDO:0002933 osteosclerosis skos:exactMatch DOID:4254 osteosclerosis semapv:UnspecifiedMatching MONDO:0002933 osteosclerosis skos:exactMatch NCIT:C41236 Osteosclerosis semapv:UnspecifiedMatching MONDO:0002933 osteosclerosis skos:exactMatch SCTID:49347007 semapv:UnspecifiedMatching MONDO:0002933 osteosclerosis skos:exactMatch UMLS:C0029464 semapv:UnspecifiedMatching MONDO:0002933 osteosclerosis skos:exactMatch mesh:D010026 semapv:UnspecifiedMatching MONDO:0002934 intravascular angioleiomyoma skos:exactMatch DOID:4266 intravascular angioleiomyoma semapv:UnspecifiedMatching MONDO:0002934 intravascular angioleiomyoma skos:exactMatch NCIT:C5355 Intravascular Angioleiomyoma semapv:UnspecifiedMatching MONDO:0002934 intravascular angioleiomyoma skos:exactMatch UMLS:C1334267 semapv:UnspecifiedMatching MONDO:0002935 penis basal cell carcinoma skos:exactMatch DOID:4277 penis basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002935 penis basal cell carcinoma skos:exactMatch NCIT:C39961 Penile Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002935 penis basal cell carcinoma skos:exactMatch UMLS:C1518949 semapv:UnspecifiedMatching MONDO:0002936 scrotum basal cell carcinoma skos:exactMatch DOID:4278 scrotum basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002936 scrotum basal cell carcinoma skos:exactMatch NCIT:C6386 Scrotal Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002936 scrotum basal cell carcinoma skos:exactMatch UMLS:C1335934 semapv:UnspecifiedMatching MONDO:0002937 nodular basal cell carcinoma skos:exactMatch DOID:4280 nodular basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002937 nodular basal cell carcinoma skos:exactMatch NCIT:C5568 Skin Nodulo-Ulcerative Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002937 nodular basal cell carcinoma skos:exactMatch SCTID:403910009 semapv:UnspecifiedMatching MONDO:0002937 nodular basal cell carcinoma skos:exactMatch UMLS:C4083056 semapv:UnspecifiedMatching MONDO:0002938 metatypical basal cell carcinoma skos:exactMatch DOID:4281 metatypical basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002938 metatypical basal cell carcinoma skos:exactMatch NCIT:C66903 Skin Metatypical Carcinoma semapv:UnspecifiedMatching MONDO:0002938 metatypical basal cell carcinoma skos:exactMatch SCTID:254702000 semapv:UnspecifiedMatching MONDO:0002939 skin pigmented basal cell carcinoma skos:exactMatch DOID:4282 pigmented basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002939 skin pigmented basal cell carcinoma skos:exactMatch NCIT:C9359 Skin Pigmented Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002939 skin pigmented basal cell carcinoma skos:exactMatch SCTID:403909004 semapv:UnspecifiedMatching MONDO:0002939 skin pigmented basal cell carcinoma skos:exactMatch UMLS:C1368275 semapv:UnspecifiedMatching MONDO:0002940 anal margin basal cell carcinoma skos:exactMatch DOID:4283 anal margin basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002940 anal margin basal cell carcinoma skos:exactMatch NCIT:C7473 Anal Margin Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002940 anal margin basal cell carcinoma skos:exactMatch UMLS:C1332269 semapv:UnspecifiedMatching MONDO:0002941 anal margin carcinoma skos:exactMatch DOID:4284 anal margin carcinoma semapv:UnspecifiedMatching MONDO:0002941 anal margin carcinoma skos:exactMatch NCIT:C7472 Anal Margin Carcinoma semapv:UnspecifiedMatching MONDO:0002941 anal margin carcinoma skos:exactMatch UMLS:C0349534 semapv:UnspecifiedMatching MONDO:0002942 sebaceous basal cell carcinoma skos:exactMatch DOID:4286 skin nasal cell carcinoma with sebaceous differentiation semapv:UnspecifiedMatching MONDO:0002943 external ear basal cell carcinoma skos:exactMatch DOID:4287 external ear basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002943 external ear basal cell carcinoma skos:exactMatch NCIT:C6082 External Ear Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002943 external ear basal cell carcinoma skos:exactMatch UMLS:C1333491 semapv:UnspecifiedMatching MONDO:0002944 external ear carcinoma skos:exactMatch DOID:4288 external ear carcinoma semapv:UnspecifiedMatching MONDO:0002944 external ear carcinoma skos:exactMatch NCIT:C6081 External Ear Carcinoma semapv:UnspecifiedMatching MONDO:0002944 external ear carcinoma skos:exactMatch UMLS:C1333492 semapv:UnspecifiedMatching MONDO:0002945 micronodular basal cell carcinoma skos:exactMatch DOID:4289 micronodular basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002945 micronodular basal cell carcinoma skos:exactMatch NCIT:C27541 Skin Micronodular Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002945 micronodular basal cell carcinoma skos:exactMatch SCTID:402529002 semapv:UnspecifiedMatching MONDO:0002945 micronodular basal cell carcinoma skos:exactMatch UMLS:C1367861 semapv:UnspecifiedMatching MONDO:0002946 gynatresia skos:exactMatch DOID:429 gynatresia semapv:UnspecifiedMatching MONDO:0002946 gynatresia skos:exactMatch NCIT:C84743 Gynatresia semapv:UnspecifiedMatching MONDO:0002946 gynatresia skos:exactMatch UMLS:C0018414 semapv:UnspecifiedMatching MONDO:0002946 gynatresia skos:exactMatch mesh:D006175 semapv:UnspecifiedMatching MONDO:0002947 adamantinoid basal cell epithelioma skos:exactMatch DOID:4290 adamantinoid basal cell epithelioma semapv:UnspecifiedMatching MONDO:0002947 adamantinoid basal cell epithelioma skos:exactMatch NCIT:C7585 Skin Adamantinoid Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002947 adamantinoid basal cell epithelioma skos:exactMatch SCTID:402524007 semapv:UnspecifiedMatching MONDO:0002947 adamantinoid basal cell epithelioma skos:exactMatch UMLS:C1304295 semapv:UnspecifiedMatching MONDO:0002948 skin fibroepithelial basal cell carcinoma skos:exactMatch DOID:4291 fibroepithelial basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002948 skin fibroepithelial basal cell carcinoma skos:exactMatch NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002948 skin fibroepithelial basal cell carcinoma skos:exactMatch SCTID:254703005 semapv:UnspecifiedMatching MONDO:0002948 skin fibroepithelial basal cell carcinoma skos:exactMatch UMLS:C0346013 semapv:UnspecifiedMatching MONDO:0002949 morpheaform basal cell carcinoma skos:exactMatch DOID:4292 morpheaform basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002949 morpheaform basal cell carcinoma skos:exactMatch NCIT:C27182 Skin Sclerosing/Morphoeic Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002949 morpheaform basal cell carcinoma skos:exactMatch SCTID:403913006 semapv:UnspecifiedMatching MONDO:0002949 morpheaform basal cell carcinoma skos:exactMatch UMLS:C0555191 semapv:UnspecifiedMatching MONDO:0002950 skin clear cell basal cell carcinoma skos:exactMatch DOID:4293 clear cell basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002950 skin clear cell basal cell carcinoma skos:exactMatch NCIT:C27536 Skin Clear Cell Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002950 skin clear cell basal cell carcinoma skos:exactMatch UMLS:C1516599 semapv:UnspecifiedMatching MONDO:0002951 skin adenoid basal cell carcinoma skos:exactMatch DOID:4294 adenoid basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002951 skin adenoid basal cell carcinoma skos:exactMatch NCIT:C27535 Skin Adenoid Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002951 skin adenoid basal cell carcinoma skos:exactMatch SCTID:402525008 semapv:UnspecifiedMatching MONDO:0002952 follicular basal cell carcinoma skos:exactMatch DOID:4295 follicular basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002952 follicular basal cell carcinoma skos:exactMatch NCIT:C27538 Skin Follicular Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002952 follicular basal cell carcinoma skos:exactMatch SCTID:402526009 semapv:UnspecifiedMatching MONDO:0002952 follicular basal cell carcinoma skos:exactMatch UMLS:C1883723 semapv:UnspecifiedMatching MONDO:0002953 skin infiltrative basal cell carcinoma skos:exactMatch DOID:4299 infiltrative basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002953 skin infiltrative basal cell carcinoma skos:exactMatch NCIT:C27539 Skin Infiltrating Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002953 skin infiltrative basal cell carcinoma skos:exactMatch UMLS:C0334257 semapv:UnspecifiedMatching MONDO:0002954 superficial multifocal basal cell carcinoma skos:exactMatch DOID:4300 superficial basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002954 superficial multifocal basal cell carcinoma skos:exactMatch NCIT:C4108 Superficial Multifocal Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002954 superficial multifocal basal cell carcinoma skos:exactMatch SCTID:403914000 semapv:UnspecifiedMatching MONDO:0002954 superficial multifocal basal cell carcinoma skos:exactMatch UMLS:C0334256 semapv:UnspecifiedMatching MONDO:0002955 vulva basal cell carcinoma skos:exactMatch DOID:4301 vulva basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002955 vulva basal cell carcinoma skos:exactMatch NCIT:C6381 Vulvar Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002955 vulva basal cell carcinoma skos:exactMatch Orphanet:494451 Vulvar basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002955 vulva basal cell carcinoma skos:exactMatch SCTID:717731002 semapv:UnspecifiedMatching MONDO:0002955 vulva basal cell carcinoma skos:exactMatch UMLS:C1336977 semapv:UnspecifiedMatching MONDO:0002956 skin cystic basal cell carcinoma skos:exactMatch DOID:4302 cystic basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002956 skin cystic basal cell carcinoma skos:exactMatch NCIT:C27537 Skin Cystic Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002956 skin cystic basal cell carcinoma skos:exactMatch SCTID:403912001 semapv:UnspecifiedMatching MONDO:0002956 skin cystic basal cell carcinoma skos:exactMatch UMLS:C1275193 semapv:UnspecifiedMatching MONDO:0002957 sarcomatoid basal cell carcinoma skos:exactMatch DOID:4303 sarcomatoid basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002957 sarcomatoid basal cell carcinoma skos:exactMatch NCIT:C38111 Skin Basal Cell Carcinoma with Sarcomatoid Differentiation semapv:UnspecifiedMatching MONDO:0002957 sarcomatoid basal cell carcinoma skos:exactMatch UMLS:C1519182 semapv:UnspecifiedMatching MONDO:0002958 signet ring basal cell carcinoma skos:exactMatch DOID:4304 signet ring basal cell carcinoma semapv:UnspecifiedMatching MONDO:0002958 signet ring basal cell carcinoma skos:exactMatch NCIT:C38110 Skin Signet Ring Cell Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002958 signet ring basal cell carcinoma skos:exactMatch UMLS:C1519320 semapv:UnspecifiedMatching MONDO:0002959 radiculopathy skos:exactMatch DOID:4306 radiculopathy semapv:UnspecifiedMatching MONDO:0002959 radiculopathy skos:exactMatch ICD10CM:M54.1 Radiculopathy semapv:UnspecifiedMatching MONDO:0002959 radiculopathy skos:exactMatch SCTID:72274001 semapv:UnspecifiedMatching MONDO:0002959 radiculopathy skos:exactMatch UMLS:C0700594 semapv:UnspecifiedMatching MONDO:0002959 radiculopathy skos:exactMatch mesh:D011843 semapv:UnspecifiedMatching MONDO:0002960 polyradiculopathy skos:exactMatch DOID:4307 polyradiculopathy semapv:UnspecifiedMatching MONDO:0002960 polyradiculopathy skos:exactMatch NCIT:C34934 Polyradiculopathy semapv:UnspecifiedMatching MONDO:0002960 polyradiculopathy skos:exactMatch SCTID:75572007 semapv:UnspecifiedMatching MONDO:0002960 polyradiculopathy skos:exactMatch UMLS:C0032586 semapv:UnspecifiedMatching MONDO:0002960 polyradiculopathy skos:exactMatch mesh:D011128 semapv:UnspecifiedMatching MONDO:0002961 large cell acanthoma skos:exactMatch DOID:4321 large cell acanthoma semapv:UnspecifiedMatching MONDO:0002961 large cell acanthoma skos:exactMatch NCIT:C27518 Large Cell Acanthoma semapv:UnspecifiedMatching MONDO:0002961 large cell acanthoma skos:exactMatch UMLS:C1334362 semapv:UnspecifiedMatching MONDO:0002962 epidermolytic acanthoma skos:exactMatch DOID:4323 epidermolytic acanthoma semapv:UnspecifiedMatching MONDO:0002962 epidermolytic acanthoma skos:exactMatch NCIT:C27516 Epidermolytic Acanthoma semapv:UnspecifiedMatching MONDO:0002962 epidermolytic acanthoma skos:exactMatch UMLS:C1333414 semapv:UnspecifiedMatching MONDO:0002963 acantholytic acanthoma skos:exactMatch DOID:4324 acantholytic acanthoma semapv:UnspecifiedMatching MONDO:0002963 acantholytic acanthoma skos:exactMatch NCIT:C27517 Acantholytic Acanthoma semapv:UnspecifiedMatching MONDO:0002963 acantholytic acanthoma skos:exactMatch UMLS:C1301270 semapv:UnspecifiedMatching MONDO:0002965 parovarian cyst skos:exactMatch DOID:4333 parovarian cyst semapv:UnspecifiedMatching MONDO:0002965 parovarian cyst skos:exactMatch SCTID:64233004 semapv:UnspecifiedMatching MONDO:0002965 parovarian cyst skos:exactMatch UMLS:C0030584 semapv:UnspecifiedMatching MONDO:0002965 parovarian cyst skos:exactMatch mesh:D010310 semapv:UnspecifiedMatching MONDO:0002966 splenic manifestation of prolymphocytic leukemia skos:exactMatch DOID:4334 splenic manifestation of prolymphocytic leukemia semapv:UnspecifiedMatching MONDO:0002966 splenic manifestation of prolymphocytic leukemia skos:exactMatch NCIT:C7297 Splenic Manifestation of Prolymphocytic Leukemia semapv:UnspecifiedMatching MONDO:0002966 splenic manifestation of prolymphocytic leukemia skos:exactMatch UMLS:C1336066 semapv:UnspecifiedMatching MONDO:0002967 dermatophytosis of scalp or beard skos:exactMatch DOID:4337 tinea capitis semapv:UnspecifiedMatching MONDO:0002967 dermatophytosis of scalp or beard skos:exactMatch NCIT:C34536 Dermatophytosis of Scalp and Beard semapv:UnspecifiedMatching MONDO:0002967 dermatophytosis of scalp or beard skos:exactMatch SCTID:266148000 semapv:UnspecifiedMatching MONDO:0002968 lymphocele skos:exactMatch DOID:4347 lymphocele semapv:UnspecifiedMatching MONDO:0002968 lymphocele skos:exactMatch SCTID:234110002 semapv:UnspecifiedMatching MONDO:0002968 lymphocele skos:exactMatch UMLS:C0024248 semapv:UnspecifiedMatching MONDO:0002968 lymphocele skos:exactMatch mesh:D008210 semapv:UnspecifiedMatching MONDO:0002969 ciliary body cancer skos:exactMatch DOID:4352 ciliary body cancer semapv:UnspecifiedMatching MONDO:0002969 ciliary body cancer skos:exactMatch NCIT:C4766 Malignant Ciliary Body Neoplasm semapv:UnspecifiedMatching MONDO:0002969 ciliary body cancer skos:exactMatch SCTID:188263008 semapv:UnspecifiedMatching MONDO:0002969 ciliary body cancer skos:exactMatch UMLS:C0496833 semapv:UnspecifiedMatching MONDO:0002970 ciliary body disorder skos:exactMatch DOID:4353 ciliary body disease semapv:UnspecifiedMatching MONDO:0002970 ciliary body disorder skos:exactMatch NCIT:C35775 Ciliary Body Disorder semapv:UnspecifiedMatching MONDO:0002970 ciliary body disorder skos:exactMatch SCTID:68575007 semapv:UnspecifiedMatching MONDO:0002970 ciliary body disorder skos:exactMatch UMLS:C0271100 semapv:UnspecifiedMatching MONDO:0002971 amelanotic melanoma skos:exactMatch DOID:4359 amelanotic melanoma semapv:UnspecifiedMatching MONDO:0002971 amelanotic melanoma skos:exactMatch NCIT:C3802 Amelanotic Melanoma semapv:UnspecifiedMatching MONDO:0002971 amelanotic melanoma skos:exactMatch UMLS:C0206735 semapv:UnspecifiedMatching MONDO:0002971 amelanotic melanoma skos:exactMatch mesh:D018328 semapv:UnspecifiedMatching MONDO:0002972 posterior mediastinum cancer skos:exactMatch DOID:436 posterior mediastinum cancer semapv:UnspecifiedMatching MONDO:0002972 posterior mediastinum cancer skos:exactMatch SCTID:448670003 semapv:UnspecifiedMatching MONDO:0002972 posterior mediastinum cancer skos:exactMatch UMLS:C0153502 semapv:UnspecifiedMatching MONDO:0002973 epithelioid cell melanoma skos:exactMatch DOID:4360 epithelioid cell melanoma semapv:UnspecifiedMatching MONDO:0002973 epithelioid cell melanoma skos:exactMatch NCIT:C4236 Epithelioid Cell Melanoma semapv:UnspecifiedMatching MONDO:0002973 epithelioid cell melanoma skos:exactMatch UMLS:C0334443 semapv:UnspecifiedMatching MONDO:0002974 cervical cancer skos:exactMatch DOID:4362 cervical cancer semapv:UnspecifiedMatching MONDO:0002974 cervical cancer skos:exactMatch NCIT:C9311 Malignant Cervical Neoplasm semapv:UnspecifiedMatching MONDO:0002974 cervical cancer skos:exactMatch OMIM:603956 cervical cancer semapv:UnspecifiedMatching MONDO:0002974 cervical cancer skos:exactMatch SCTID:363354003 semapv:UnspecifiedMatching MONDO:0002975 malignant breast melanoma skos:exactMatch DOID:4364 malignant breast melanoma semapv:UnspecifiedMatching MONDO:0002975 malignant breast melanoma skos:exactMatch NCIT:C8410 Breast Melanoma semapv:UnspecifiedMatching MONDO:0002975 malignant breast melanoma skos:exactMatch SCTID:188050009 semapv:UnspecifiedMatching MONDO:0002975 malignant breast melanoma skos:exactMatch UMLS:C0346787 semapv:UnspecifiedMatching MONDO:0002976 stomach diverticulosis skos:exactMatch DOID:4370 stomach diverticulosis semapv:UnspecifiedMatching MONDO:0002976 stomach diverticulosis skos:exactMatch UMLS:C1148546 semapv:UnspecifiedMatching MONDO:0002976 stomach diverticulosis skos:exactMatch mesh:D045724 semapv:UnspecifiedMatching MONDO:0002977 autoimmune disorder of the nervous system skos:exactMatch DOID:438 autoimmune disease of the nervous system semapv:UnspecifiedMatching MONDO:0002977 autoimmune disorder of the nervous system skos:exactMatch NCIT:C99383 Autoimmune Nervous System Disorder semapv:UnspecifiedMatching MONDO:0002977 autoimmune disorder of the nervous system skos:exactMatch UMLS:C0751871 semapv:UnspecifiedMatching MONDO:0002977 autoimmune disorder of the nervous system skos:exactMatch UMLS:C0751872 semapv:UnspecifiedMatching MONDO:0002977 autoimmune disorder of the nervous system skos:exactMatch mesh:D020274 semapv:UnspecifiedMatching MONDO:0002978 orbit alveolar rhabdomyosarcoma skos:exactMatch DOID:4384 orbit alveolar rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002978 orbit alveolar rhabdomyosarcoma skos:exactMatch NCIT:C6247 Orbit Alveolar Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0002978 orbit alveolar rhabdomyosarcoma skos:exactMatch UMLS:C1335126 semapv:UnspecifiedMatching MONDO:0002979 papillary squamous carcinoma skos:exactMatch DOID:4385 papillary squamous carcinoma semapv:UnspecifiedMatching MONDO:0002979 papillary squamous carcinoma skos:exactMatch NCIT:C4102 Papillary Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0002979 papillary squamous carcinoma skos:exactMatch UMLS:C0334244 semapv:UnspecifiedMatching MONDO:0002981 peripheral primitive neuroectodermal tumor of bone skos:exactMatch DOID:4388 bone peripheral neuroepithelioma semapv:UnspecifiedMatching MONDO:0002981 peripheral primitive neuroectodermal tumor of bone skos:exactMatch NCIT:C8776 Peripheral Primitive Neuroectodermal Tumor of Bone semapv:UnspecifiedMatching MONDO:0002981 peripheral primitive neuroectodermal tumor of bone skos:exactMatch UMLS:C0855009 semapv:UnspecifiedMatching MONDO:0002982 peripheral primitive neuroectodermal tumor of soft tissues skos:exactMatch DOID:4389 soft tissue peripheral neuroepithelioma semapv:UnspecifiedMatching MONDO:0002982 peripheral primitive neuroectodermal tumor of soft tissues skos:exactMatch NCIT:C27471 Peripheral Primitive Neuroectodermal Tumor of Soft Tissues semapv:UnspecifiedMatching MONDO:0002982 peripheral primitive neuroectodermal tumor of soft tissues skos:exactMatch UMLS:C1112437 semapv:UnspecifiedMatching MONDO:0002984 reticulohistiocytic granuloma skos:exactMatch DOID:4394 reticulohistiocytic granuloma semapv:UnspecifiedMatching MONDO:0002984 reticulohistiocytic granuloma skos:exactMatch NCIT:C3356 Solitary Reticulohistiocytoma semapv:UnspecifiedMatching MONDO:0002984 reticulohistiocytic granuloma skos:exactMatch SCTID:404162004 semapv:UnspecifiedMatching MONDO:0002984 reticulohistiocytic granuloma skos:exactMatch UMLS:C0035290 semapv:UnspecifiedMatching MONDO:0002987 spongiotic dermatitis skos:exactMatch DOID:4406 spongiotic dermatitis semapv:UnspecifiedMatching MONDO:0002987 spongiotic dermatitis skos:exactMatch NCIT:C27037 Spongiotic Dermatitis semapv:UnspecifiedMatching MONDO:0002987 spongiotic dermatitis skos:exactMatch SCTID:23615008 semapv:UnspecifiedMatching MONDO:0002987 spongiotic dermatitis skos:exactMatch UMLS:C0262984 semapv:UnspecifiedMatching MONDO:0002988 cervix melanoma skos:exactMatch DOID:4413 cervix melanoma semapv:UnspecifiedMatching MONDO:0002988 cervix melanoma skos:exactMatch NCIT:C40239 Cervical Melanoma semapv:UnspecifiedMatching MONDO:0002988 cervix melanoma skos:exactMatch UMLS:C0877611 semapv:UnspecifiedMatching MONDO:0002989 benign fibrous histiocytoma skos:exactMatch DOID:4415 fibrous histiocytoma semapv:UnspecifiedMatching MONDO:0002989 benign fibrous histiocytoma skos:exactMatch NCIT:C3739 Fibrous Histiocytoma semapv:UnspecifiedMatching MONDO:0002989 benign fibrous histiocytoma skos:exactMatch UMLS:C0206644 semapv:UnspecifiedMatching MONDO:0002989 benign fibrous histiocytoma skos:exactMatch mesh:D018219 semapv:UnspecifiedMatching MONDO:0002990 benign deep fibrous histiocytoma skos:exactMatch DOID:4419 benign deep fibrous histiocytoma semapv:UnspecifiedMatching MONDO:0002990 benign deep fibrous histiocytoma skos:exactMatch NCIT:C6492 Deep Fibrous Histiocytoma semapv:UnspecifiedMatching MONDO:0002990 benign deep fibrous histiocytoma skos:exactMatch UMLS:C1266125 semapv:UnspecifiedMatching MONDO:0002991 adenocarcinofibroma skos:exactMatch DOID:4422 malignant adenofibroma semapv:UnspecifiedMatching MONDO:0002991 adenocarcinofibroma skos:exactMatch NCIT:C40035 Adenocarcinofibroma semapv:UnspecifiedMatching MONDO:0002991 adenocarcinofibroma skos:exactMatch UMLS:C1510778 semapv:UnspecifiedMatching MONDO:0002993 pancreatic somatostatinoma skos:exactMatch DOID:4432 pancreatic somatostatinoma semapv:UnspecifiedMatching MONDO:0002993 pancreatic somatostatinoma skos:exactMatch NCIT:C95595 Pancreatic Somatostatinoma semapv:UnspecifiedMatching MONDO:0002993 pancreatic somatostatinoma skos:exactMatch UMLS:C1368041 semapv:UnspecifiedMatching MONDO:0002994 pancreatic delta cell neuroendocrine tumor skos:exactMatch DOID:4433 pancreatic delta cell neoplasm semapv:UnspecifiedMatching MONDO:0002994 pancreatic delta cell neuroendocrine tumor skos:exactMatch NCIT:C28396 Pancreatic Delta Cell Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0002994 pancreatic delta cell neuroendocrine tumor skos:exactMatch UMLS:C1335301 semapv:UnspecifiedMatching MONDO:0002995 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch NCIT:C96061 Small Intestinal Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0002995 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch UMLS:C3272528 semapv:UnspecifiedMatching MONDO:0002996 cavernous sinus meningioma skos:exactMatch DOID:4435 cavernous sinus meningioma semapv:UnspecifiedMatching MONDO:0002996 cavernous sinus meningioma skos:exactMatch NCIT:C5268 Cavernous Sinus Meningioma semapv:UnspecifiedMatching MONDO:0002996 cavernous sinus meningioma skos:exactMatch UMLS:C1332865 semapv:UnspecifiedMatching MONDO:0002997 anterior cranial fossa meningioma skos:exactMatch DOID:4436 anterior cranial fossa meningioma semapv:UnspecifiedMatching MONDO:0002997 anterior cranial fossa meningioma skos:exactMatch NCIT:C5286 Anterior Cranial Fossa Meningioma semapv:UnspecifiedMatching MONDO:0002997 anterior cranial fossa meningioma skos:exactMatch UMLS:C1332301 semapv:UnspecifiedMatching MONDO:0002998 skull base meningioma skos:exactMatch DOID:4437 skull base meningioma semapv:UnspecifiedMatching MONDO:0002998 skull base meningioma skos:exactMatch NCIT:C5272 Skull Base Meningioma semapv:UnspecifiedMatching MONDO:0002998 skull base meningioma skos:exactMatch UMLS:C1335976 semapv:UnspecifiedMatching MONDO:0002999 central nervous system germinoma skos:exactMatch DOID:4438 central nervous system germinoma semapv:UnspecifiedMatching MONDO:0002999 central nervous system germinoma skos:exactMatch NCIT:C7009 Central Nervous System Germinoma semapv:UnspecifiedMatching MONDO:0003000 central nervous system germ cell tumor skos:exactMatch DOID:4439 central nervous system germ cell tumor semapv:UnspecifiedMatching MONDO:0003000 central nervous system germ cell tumor skos:exactMatch NCIT:C5461 Central Nervous System Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003000 central nervous system germ cell tumor skos:exactMatch UMLS:C1332880 semapv:UnspecifiedMatching MONDO:0003001 seminoma skos:exactMatch DOID:4440 seminoma semapv:UnspecifiedMatching MONDO:0003001 seminoma skos:exactMatch NCIT:C9309 Seminoma semapv:UnspecifiedMatching MONDO:0003001 seminoma skos:exactMatch SCTID:443675005 semapv:UnspecifiedMatching MONDO:0003001 seminoma skos:exactMatch mesh:D018239 semapv:UnspecifiedMatching MONDO:0003002 dysgerminoma skos:exactMatch DOID:4441 dysgerminoma semapv:UnspecifiedMatching MONDO:0003002 dysgerminoma skos:exactMatch UMLS:C0013377 semapv:UnspecifiedMatching MONDO:0003002 dysgerminoma skos:exactMatch mesh:D004407 semapv:UnspecifiedMatching MONDO:0003003 cervical alveolar soft part sarcoma skos:exactMatch DOID:4442 cervical alveolar soft part sarcoma semapv:UnspecifiedMatching MONDO:0003003 cervical alveolar soft part sarcoma skos:exactMatch NCIT:C40225 Cervical Alveolar Soft Part Sarcoma semapv:UnspecifiedMatching MONDO:0003003 cervical alveolar soft part sarcoma skos:exactMatch UMLS:C1516408 semapv:UnspecifiedMatching MONDO:0003004 macular degeneration skos:exactMatch DOID:4448 macular degeneration semapv:UnspecifiedMatching MONDO:0003004 macular degeneration skos:exactMatch NCIT:C123330 Macular Degeneration semapv:UnspecifiedMatching MONDO:0003004 macular degeneration skos:exactMatch SCTID:422338006 semapv:UnspecifiedMatching MONDO:0003004 macular degeneration skos:exactMatch UMLS:C0024437 semapv:UnspecifiedMatching MONDO:0003004 macular degeneration skos:exactMatch mesh:D008268 semapv:UnspecifiedMatching MONDO:0003005 macular retinal edema skos:exactMatch DOID:4449 macular retinal edema semapv:UnspecifiedMatching MONDO:0003005 macular retinal edema skos:exactMatch NCIT:C35468 Macular Edema semapv:UnspecifiedMatching MONDO:0003005 macular retinal edema skos:exactMatch SCTID:37231002 semapv:UnspecifiedMatching MONDO:0003005 macular retinal edema skos:exactMatch UMLS:C0271051 semapv:UnspecifiedMatching MONDO:0003007 childhood kidney cell carcinoma skos:exactMatch DOID:4454 childhood kidney cell carcinoma semapv:UnspecifiedMatching MONDO:0003007 childhood kidney cell carcinoma skos:exactMatch NCIT:C6568 Childhood Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003007 childhood kidney cell carcinoma skos:exactMatch UMLS:C1333001 semapv:UnspecifiedMatching MONDO:0003008 hereditary renal cell carcinoma skos:exactMatch DOID:4455 hereditary renal cell carcinoma semapv:UnspecifiedMatching MONDO:0003008 hereditary renal cell carcinoma skos:exactMatch NCIT:C39789 Hereditary Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003008 hereditary renal cell carcinoma skos:exactMatch SCTID:717736007 semapv:UnspecifiedMatching MONDO:0003008 hereditary renal cell carcinoma skos:exactMatch mesh:C536851 semapv:UnspecifiedMatching MONDO:0003009 hyperaldosteronism skos:exactMatch DOID:446 primary hyperaldosteronism semapv:UnspecifiedMatching MONDO:0003009 hyperaldosteronism skos:exactMatch ICD10CM:E26 Hyperaldosteronism semapv:UnspecifiedMatching MONDO:0003009 hyperaldosteronism skos:exactMatch SCTID:88213004 semapv:UnspecifiedMatching MONDO:0003009 hyperaldosteronism skos:exactMatch UMLS:C0020428 semapv:UnspecifiedMatching MONDO:0003009 hyperaldosteronism skos:exactMatch mesh:D006929 semapv:UnspecifiedMatching MONDO:0003010 multilocular clear cell renal cell carcinoma skos:exactMatch DOID:4463 multilocular clear cell renal cell carcinoma semapv:UnspecifiedMatching MONDO:0003010 multilocular clear cell renal cell carcinoma skos:exactMatch NCIT:C4524 Multilocular Cystic Renal Neoplasm of Low Malignant Potential semapv:UnspecifiedMatching MONDO:0003010 multilocular clear cell renal cell carcinoma skos:exactMatch Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential semapv:UnspecifiedMatching MONDO:0003010 multilocular clear cell renal cell carcinoma skos:exactMatch SCTID:254916002 semapv:UnspecifiedMatching MONDO:0003010 multilocular clear cell renal cell carcinoma skos:exactMatch UMLS:C0346249 semapv:UnspecifiedMatching MONDO:0003011 mucinous tubular and spindle renal cell carcinoma skos:exactMatch DOID:4472 mucinous tubular and spindle renal cell carcinoma semapv:UnspecifiedMatching MONDO:0003011 mucinous tubular and spindle renal cell carcinoma skos:exactMatch NCIT:C39807 Mucinous Tubular and Spindle Cell Carcinoma of the Kidney semapv:UnspecifiedMatching MONDO:0003011 mucinous tubular and spindle renal cell carcinoma skos:exactMatch Orphanet:319322 Mucinous tubular and spindle cell renal carcinoma semapv:UnspecifiedMatching MONDO:0003011 mucinous tubular and spindle renal cell carcinoma skos:exactMatch SCTID:764990003 semapv:UnspecifiedMatching MONDO:0003011 mucinous tubular and spindle renal cell carcinoma skos:exactMatch UMLS:C4707257 semapv:UnspecifiedMatching MONDO:0003012 sarcomatoid renal cell carcinoma skos:exactMatch DOID:4473 sarcomatoid renal cell carcinoma semapv:UnspecifiedMatching MONDO:0003012 sarcomatoid renal cell carcinoma skos:exactMatch NCIT:C27893 Sarcomatoid Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003012 sarcomatoid renal cell carcinoma skos:exactMatch UMLS:C1266043 semapv:UnspecifiedMatching MONDO:0003014 rhinitis skos:exactMatch DOID:4483 rhinitis semapv:UnspecifiedMatching MONDO:0003014 rhinitis skos:exactMatch ICD10CM:J30 Vasomotor and allergic rhinitis semapv:UnspecifiedMatching MONDO:0003014 rhinitis skos:exactMatch NCIT:C34986 Rhinitis semapv:UnspecifiedMatching MONDO:0003014 rhinitis skos:exactMatch SCTID:70076002 semapv:UnspecifiedMatching MONDO:0003014 rhinitis skos:exactMatch UMLS:C0035455 semapv:UnspecifiedMatching MONDO:0003014 rhinitis skos:exactMatch mesh:D012220 semapv:UnspecifiedMatching MONDO:0003017 malignant peritoneal solitary fibrous tumor skos:exactMatch DOID:4490 malignant peritoneal solitary fibrous tumor semapv:UnspecifiedMatching MONDO:0003019 potassium deficiency disease skos:exactMatch DOID:4500 hypokalemia semapv:UnspecifiedMatching MONDO:0003019 potassium deficiency disease skos:exactMatch ICD10CM:E87.6 Hypokalemia semapv:UnspecifiedMatching MONDO:0003019 potassium deficiency disease skos:exactMatch NCIT:C34939 Potassium Deficiency Disorder semapv:UnspecifiedMatching MONDO:0003019 potassium deficiency disease skos:exactMatch SCTID:43339004 semapv:UnspecifiedMatching MONDO:0003019 potassium deficiency disease skos:exactMatch UMLS:C1514284 semapv:UnspecifiedMatching MONDO:0003019 potassium deficiency disease skos:exactMatch mesh:D007008 semapv:UnspecifiedMatching MONDO:0003021 central nervous system angiosarcoma skos:exactMatch DOID:4504 central nervous system angiosarcoma semapv:UnspecifiedMatching MONDO:0003021 central nervous system angiosarcoma skos:exactMatch NCIT:C5450 Central Nervous System Angiosarcoma semapv:UnspecifiedMatching MONDO:0003021 central nervous system angiosarcoma skos:exactMatch UMLS:C1332875 semapv:UnspecifiedMatching MONDO:0003022 pediatric angiosarcoma skos:exactMatch DOID:4505 childhood angiosarcoma semapv:UnspecifiedMatching MONDO:0003022 pediatric angiosarcoma skos:exactMatch NCIT:C9174 Childhood Angiosarcoma semapv:UnspecifiedMatching MONDO:0003022 pediatric angiosarcoma skos:exactMatch UMLS:C0279988 semapv:UnspecifiedMatching MONDO:0003023 aorta angiosarcoma skos:exactMatch DOID:4510 aorta angiosarcoma semapv:UnspecifiedMatching MONDO:0003023 aorta angiosarcoma skos:exactMatch NCIT:C5376 Aortic Angiosarcoma semapv:UnspecifiedMatching MONDO:0003023 aorta angiosarcoma skos:exactMatch UMLS:C1332312 semapv:UnspecifiedMatching MONDO:0003024 breast angiosarcoma skos:exactMatch DOID:4511 breast angiosarcoma semapv:UnspecifiedMatching MONDO:0003024 breast angiosarcoma skos:exactMatch NCIT:C5184 Breast Angiosarcoma semapv:UnspecifiedMatching MONDO:0003024 breast angiosarcoma skos:exactMatch UMLS:C1332614 semapv:UnspecifiedMatching MONDO:0003024 breast angiosarcoma skos:exactMatch mesh:C536368 semapv:UnspecifiedMatching MONDO:0003025 conventional angiosarcoma skos:exactMatch DOID:4512 conventional angiosarcoma semapv:UnspecifiedMatching MONDO:0003025 conventional angiosarcoma skos:exactMatch NCIT:C9426 Conventional Angiosarcoma semapv:UnspecifiedMatching MONDO:0003025 conventional angiosarcoma skos:exactMatch UMLS:C1333155 semapv:UnspecifiedMatching MONDO:0003026 gallbladder angiosarcoma skos:exactMatch DOID:4513 gallbladder angiosarcoma semapv:UnspecifiedMatching MONDO:0003026 gallbladder angiosarcoma skos:exactMatch NCIT:C5840 Gallbladder Angiosarcoma semapv:UnspecifiedMatching MONDO:0003026 gallbladder angiosarcoma skos:exactMatch UMLS:C1333742 semapv:UnspecifiedMatching MONDO:0003027 thyroid gland angiosarcoma skos:exactMatch DOID:4514 thyroid angiosarcoma semapv:UnspecifiedMatching MONDO:0003027 thyroid gland angiosarcoma skos:exactMatch NCIT:C6043 Thyroid Gland Angiosarcoma semapv:UnspecifiedMatching MONDO:0003027 thyroid gland angiosarcoma skos:exactMatch UMLS:C1336748 semapv:UnspecifiedMatching MONDO:0003028 thyroid sarcoma skos:exactMatch DOID:4515 thyroid sarcoma semapv:UnspecifiedMatching MONDO:0003028 thyroid sarcoma skos:exactMatch NCIT:C6041 Thyroid Gland Sarcoma semapv:UnspecifiedMatching MONDO:0003028 thyroid sarcoma skos:exactMatch UMLS:C1336756 semapv:UnspecifiedMatching MONDO:0003029 skin angiosarcoma skos:exactMatch DOID:4517 skin angiosarcoma semapv:UnspecifiedMatching MONDO:0003029 skin angiosarcoma skos:exactMatch NCIT:C4489 Skin Angiosarcoma semapv:UnspecifiedMatching MONDO:0003029 skin angiosarcoma skos:exactMatch SCTID:254794007 semapv:UnspecifiedMatching MONDO:0003029 skin angiosarcoma skos:exactMatch UMLS:C0346081 semapv:UnspecifiedMatching MONDO:0003030 endometrioid stromal sarcoma of the cervix skos:exactMatch DOID:4520 cervical endometrial stromal sarcoma semapv:UnspecifiedMatching MONDO:0003030 endometrioid stromal sarcoma of the cervix skos:exactMatch NCIT:C40220 Endometrioid Stromal Sarcoma of the Cervix semapv:UnspecifiedMatching MONDO:0003030 endometrioid stromal sarcoma of the cervix skos:exactMatch UMLS:C3642326 semapv:UnspecifiedMatching MONDO:0003031 endometrioid stromal and related neoplasms of the cervix skos:exactMatch DOID:4521 cervix endometrial stromal tumor semapv:UnspecifiedMatching MONDO:0003031 endometrioid stromal and related neoplasms of the cervix skos:exactMatch NCIT:C40218 Cervical Endometrioid Stromal and Related Neoplasms semapv:UnspecifiedMatching MONDO:0003031 endometrioid stromal and related neoplasms of the cervix skos:exactMatch UMLS:C4289586 semapv:UnspecifiedMatching MONDO:0003032 superior vena cava angiosarcoma skos:exactMatch DOID:4522 superior vena cava angiosarcoma semapv:UnspecifiedMatching MONDO:0003032 superior vena cava angiosarcoma skos:exactMatch NCIT:C5378 Superior Vena Cava Angiosarcoma semapv:UnspecifiedMatching MONDO:0003032 superior vena cava angiosarcoma skos:exactMatch UMLS:C1336530 semapv:UnspecifiedMatching MONDO:0003033 prostate angiosarcoma skos:exactMatch DOID:4524 prostate angiosarcoma semapv:UnspecifiedMatching MONDO:0003033 prostate angiosarcoma skos:exactMatch NCIT:C5528 Prostate Angiosarcoma semapv:UnspecifiedMatching MONDO:0003033 prostate angiosarcoma skos:exactMatch UMLS:C1335504 semapv:UnspecifiedMatching MONDO:0003034 mediastinum angiosarcoma skos:exactMatch DOID:4525 mediastinum angiosarcoma semapv:UnspecifiedMatching MONDO:0003034 mediastinum angiosarcoma skos:exactMatch NCIT:C6613 Mediastinal Angiosarcoma semapv:UnspecifiedMatching MONDO:0003034 mediastinum angiosarcoma skos:exactMatch UMLS:C1334649 semapv:UnspecifiedMatching MONDO:0003035 ovarian angiosarcoma skos:exactMatch DOID:4527 ovarian angiosarcoma semapv:UnspecifiedMatching MONDO:0003035 ovarian angiosarcoma skos:exactMatch NCIT:C5232 Ovarian Angiosarcoma semapv:UnspecifiedMatching MONDO:0003035 ovarian angiosarcoma skos:exactMatch UMLS:C1335152 semapv:UnspecifiedMatching MONDO:0003036 mucoepidermoid carcinoma skos:exactMatch DOID:4531 mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0003036 mucoepidermoid carcinoma skos:exactMatch NCIT:C3772 Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0003036 mucoepidermoid carcinoma skos:exactMatch UMLS:C0206694 semapv:UnspecifiedMatching MONDO:0003036 mucoepidermoid carcinoma skos:exactMatch mesh:D018277 semapv:UnspecifiedMatching MONDO:0003036 mucoepidermoid carcinoma skos:exactMatch mesh:D018298 semapv:UnspecifiedMatching MONDO:0003037 hypotrichosis skos:exactMatch DOID:4535 hypotrichosis semapv:UnspecifiedMatching MONDO:0003037 hypotrichosis skos:exactMatch NCIT:C34720 Hypotrichosis semapv:UnspecifiedMatching MONDO:0003037 hypotrichosis skos:exactMatch OMIMPS:605389 semapv:UnspecifiedMatching MONDO:0003037 hypotrichosis skos:exactMatch SCTID:53602002 semapv:UnspecifiedMatching MONDO:0003037 hypotrichosis skos:exactMatch mesh:D007039 semapv:UnspecifiedMatching MONDO:0003038 dysgraphia skos:exactMatch DOID:4540 dysgraphia semapv:UnspecifiedMatching MONDO:0003038 dysgraphia skos:exactMatch NCIT:C182452 Dysgraphia semapv:UnspecifiedMatching MONDO:0003039 nominal aphasia skos:exactMatch DOID:4541 nominal aphasia semapv:UnspecifiedMatching MONDO:0003039 nominal aphasia skos:exactMatch mesh:D000849 semapv:UnspecifiedMatching MONDO:0003040 retrograde amnesia skos:exactMatch DOID:4543 retrograde amnesia semapv:UnspecifiedMatching MONDO:0003040 retrograde amnesia skos:exactMatch ICD10CM:R41.2 Retrograde amnesia semapv:UnspecifiedMatching MONDO:0003040 retrograde amnesia skos:exactMatch mesh:D000648 semapv:UnspecifiedMatching MONDO:0003041 pediatric mesenchymal chondrosarcoma skos:exactMatch DOID:4546 childhood mesenchymal chondrosarcoma semapv:UnspecifiedMatching MONDO:0003041 pediatric mesenchymal chondrosarcoma skos:exactMatch NCIT:C27374 Childhood Mesenchymal Chondrosarcoma semapv:UnspecifiedMatching MONDO:0003041 pediatric mesenchymal chondrosarcoma skos:exactMatch UMLS:C1332982 semapv:UnspecifiedMatching MONDO:0003042 adult mesenchymal chondrosarcoma skos:exactMatch DOID:4547 adult mesenchymal chondrosarcoma semapv:UnspecifiedMatching MONDO:0003042 adult mesenchymal chondrosarcoma skos:exactMatch NCIT:C27375 Adult Mesenchymal Chondrosarcoma semapv:UnspecifiedMatching MONDO:0003042 adult mesenchymal chondrosarcoma skos:exactMatch UMLS:C1332207 semapv:UnspecifiedMatching MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma skos:exactMatch DOID:4548 extraskeletal mesenchymal chondrosarcoma semapv:UnspecifiedMatching MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma skos:exactMatch NCIT:C27481 Mesenchymal Extraskeletal Chondrosarcoma semapv:UnspecifiedMatching MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma skos:exactMatch SCTID:404080006 semapv:UnspecifiedMatching MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma skos:exactMatch UMLS:C1275279 semapv:UnspecifiedMatching MONDO:0003044 obsolete extraosseous chondrosarcoma skos:exactMatch DOID:4549 extraskeletal myxoid chondrosarcoma semapv:UnspecifiedMatching MONDO:0003045 anal gland neoplasm skos:exactMatch DOID:4550 anal gland neoplasm semapv:UnspecifiedMatching MONDO:0003045 anal gland neoplasm skos:exactMatch UMLS:C0002757 semapv:UnspecifiedMatching MONDO:0003045 anal gland neoplasm skos:exactMatch mesh:D000694 semapv:UnspecifiedMatching MONDO:0003046 anus neoplasm skos:exactMatch DOID:4551 anus benign neoplasm semapv:UnspecifiedMatching MONDO:0003046 anus neoplasm skos:exactMatch NCIT:C2877 Anal Neoplasm semapv:UnspecifiedMatching MONDO:0003046 anus neoplasm skos:exactMatch SCTID:126849006 semapv:UnspecifiedMatching MONDO:0003046 anus neoplasm skos:exactMatch UMLS:C0003463 semapv:UnspecifiedMatching MONDO:0003046 anus neoplasm skos:exactMatch mesh:D001005 semapv:UnspecifiedMatching MONDO:0003047 thymic large cell neuroendocrine carcinoma skos:exactMatch DOID:4553 thymus large cell carcinoma semapv:UnspecifiedMatching MONDO:0003047 thymic large cell neuroendocrine carcinoma skos:exactMatch NCIT:C6461 Thymic Large Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0003047 thymic large cell neuroendocrine carcinoma skos:exactMatch UMLS:C1334364 semapv:UnspecifiedMatching MONDO:0003049 ovarian large-cell neuroendocrine carcinoma skos:exactMatch DOID:4555 ovarian large-cell neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0003049 ovarian large-cell neuroendocrine carcinoma skos:exactMatch NCIT:C5238 Ovarian Large Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0003049 ovarian large-cell neuroendocrine carcinoma skos:exactMatch UMLS:C1335174 semapv:UnspecifiedMatching MONDO:0003050 lung large cell carcinoma skos:exactMatch DOID:4556 lung large cell carcinoma semapv:UnspecifiedMatching MONDO:0003050 lung large cell carcinoma skos:exactMatch NCIT:C4450 Lung Large Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003050 lung large cell carcinoma skos:exactMatch SCTID:254629004 semapv:UnspecifiedMatching MONDO:0003050 lung large cell carcinoma skos:exactMatch UMLS:C0345958 semapv:UnspecifiedMatching MONDO:0003051 non specific chronic endometritis skos:exactMatch DOID:4560 non specific chronic endometritis semapv:UnspecifiedMatching MONDO:0003051 non specific chronic endometritis skos:exactMatch NCIT:C27625 Non Specific Chronic Endometritis semapv:UnspecifiedMatching MONDO:0003051 non specific chronic endometritis skos:exactMatch UMLS:C1335061 semapv:UnspecifiedMatching MONDO:0003052 granulomatous endometritis skos:exactMatch DOID:4561 granulomatous endometritis semapv:UnspecifiedMatching MONDO:0003052 granulomatous endometritis skos:exactMatch NCIT:C27626 Granulomatous Endometritis semapv:UnspecifiedMatching MONDO:0003052 granulomatous endometritis skos:exactMatch UMLS:C1333876 semapv:UnspecifiedMatching MONDO:0003053 choroid plexus meningioma skos:exactMatch DOID:4584 choroid plexus meningioma semapv:UnspecifiedMatching MONDO:0003053 choroid plexus meningioma skos:exactMatch NCIT:C4719 Choroid Plexus Meningioma semapv:UnspecifiedMatching MONDO:0003053 choroid plexus meningioma skos:exactMatch UMLS:C0431118 semapv:UnspecifiedMatching MONDO:0003054 benign meningioma skos:exactMatch DOID:4587 benign meningioma semapv:UnspecifiedMatching MONDO:0003054 benign meningioma skos:exactMatch NCIT:C4055 Benign Meningioma semapv:UnspecifiedMatching MONDO:0003054 benign meningioma skos:exactMatch SCTID:724171006 semapv:UnspecifiedMatching MONDO:0003054 benign meningioma skos:exactMatch UMLS:C0281784 semapv:UnspecifiedMatching MONDO:0003055 secretory meningioma skos:exactMatch DOID:4588 secretory meningioma semapv:UnspecifiedMatching MONDO:0003055 secretory meningioma skos:exactMatch NCIT:C4718 Secretory Meningioma semapv:UnspecifiedMatching MONDO:0003055 secretory meningioma skos:exactMatch UMLS:C1384406 semapv:UnspecifiedMatching MONDO:0003056 lymphoplasmacyte-rich meningioma skos:exactMatch DOID:4591 lymphoplasmacyte-rich meningioma semapv:UnspecifiedMatching MONDO:0003056 lymphoplasmacyte-rich meningioma skos:exactMatch NCIT:C4720 Lymphoplasmacyte-Rich Meningioma semapv:UnspecifiedMatching MONDO:0003056 lymphoplasmacyte-rich meningioma skos:exactMatch UMLS:C0431119 semapv:UnspecifiedMatching MONDO:0003057 pediatric meningioma skos:exactMatch DOID:4593 childhood meningioma semapv:UnspecifiedMatching MONDO:0003057 pediatric meningioma skos:exactMatch NCIT:C8264 Childhood Meningioma semapv:UnspecifiedMatching MONDO:0003057 pediatric meningioma skos:exactMatch UMLS:C0280656 semapv:UnspecifiedMatching MONDO:0003058 microcystic meningioma skos:exactMatch DOID:4594 microcystic meningioma semapv:UnspecifiedMatching MONDO:0003058 microcystic meningioma skos:exactMatch NCIT:C4721 Microcystic Meningioma semapv:UnspecifiedMatching MONDO:0003058 microcystic meningioma skos:exactMatch UMLS:C1384408 semapv:UnspecifiedMatching MONDO:0003059 bile duct cancer skos:exactMatch DOID:4606 bile duct cancer semapv:UnspecifiedMatching MONDO:0003060 biliary tract cancer skos:exactMatch DOID:4607 biliary tract cancer semapv:UnspecifiedMatching MONDO:0003061 benign muscle neoplasm skos:exactMatch DOID:2691 myoma semapv:UnspecifiedMatching MONDO:0003061 benign muscle neoplasm skos:exactMatch DOID:461 muscle benign neoplasm semapv:UnspecifiedMatching MONDO:0003061 benign muscle neoplasm skos:exactMatch NCIT:C4882 Benign Muscle Neoplasm semapv:UnspecifiedMatching MONDO:0003061 benign muscle neoplasm skos:exactMatch mesh:D009214 semapv:UnspecifiedMatching MONDO:0003062 intestinal benign neoplasm skos:exactMatch NCIT:C4609 Benign Intestinal Neoplasm semapv:UnspecifiedMatching MONDO:0003062 intestinal benign neoplasm skos:exactMatch SCTID:92151003 semapv:UnspecifiedMatching MONDO:0003062 intestinal benign neoplasm skos:exactMatch UMLS:C0347269 semapv:UnspecifiedMatching MONDO:0003064 inverted transitional cell papilloma skos:exactMatch DOID:4630 inverted transitional papilloma semapv:UnspecifiedMatching MONDO:0003064 inverted transitional cell papilloma skos:exactMatch NCIT:C4118 Inverted Transitional Cell Papilloma semapv:UnspecifiedMatching MONDO:0003064 inverted transitional cell papilloma skos:exactMatch UMLS:C5551359 semapv:UnspecifiedMatching MONDO:0003065 nasal cavity inverting papilloma skos:exactMatch DOID:4633 nasal cavity inverting papilloma semapv:UnspecifiedMatching MONDO:0003065 nasal cavity inverting papilloma skos:exactMatch NCIT:C8194 Nasal Cavity Inverted Papilloma semapv:UnspecifiedMatching MONDO:0003065 nasal cavity inverting papilloma skos:exactMatch UMLS:C0280336 semapv:UnspecifiedMatching MONDO:0003066 submandibular adenitis skos:exactMatch DOID:4636 submandibular adenitis semapv:UnspecifiedMatching MONDO:0003066 submandibular adenitis skos:exactMatch NCIT:C27016 Submandibular Lymphadenitis semapv:UnspecifiedMatching MONDO:0003066 submandibular adenitis skos:exactMatch SCTID:15170009 semapv:UnspecifiedMatching MONDO:0003066 submandibular adenitis skos:exactMatch UMLS:C0235591 semapv:UnspecifiedMatching MONDO:0003067 cervical lymphadenitis skos:exactMatch DOID:4637 cervical adenitis semapv:UnspecifiedMatching MONDO:0003067 cervical lymphadenitis skos:exactMatch NCIT:C26937 Cervical Lymphadenitis semapv:UnspecifiedMatching MONDO:0003067 cervical lymphadenitis skos:exactMatch SCTID:3502005 semapv:UnspecifiedMatching MONDO:0003067 cervical lymphadenitis skos:exactMatch UMLS:C0149642 semapv:UnspecifiedMatching MONDO:0003068 postauricular lymphadenitis skos:exactMatch DOID:4638 postauricular lymphadenitis semapv:UnspecifiedMatching MONDO:0003068 postauricular lymphadenitis skos:exactMatch NCIT:C27332 Postauricular Lymphadenitis semapv:UnspecifiedMatching MONDO:0003068 postauricular lymphadenitis skos:exactMatch UMLS:C0919638 semapv:UnspecifiedMatching MONDO:0003069 suppurative lymphadenitis skos:exactMatch DOID:4639 suppurative lymphadenitis semapv:UnspecifiedMatching MONDO:0003069 suppurative lymphadenitis skos:exactMatch NCIT:C27135 Suppurative Lymphadenitis semapv:UnspecifiedMatching MONDO:0003069 suppurative lymphadenitis skos:exactMatch SCTID:48573006 semapv:UnspecifiedMatching MONDO:0003069 suppurative lymphadenitis skos:exactMatch UMLS:C0392051 semapv:UnspecifiedMatching MONDO:0003070 axillary lymphadenitis skos:exactMatch DOID:4640 axillary adenitis semapv:UnspecifiedMatching MONDO:0003070 axillary lymphadenitis skos:exactMatch NCIT:C27333 Axillary Lymphadenitis semapv:UnspecifiedMatching MONDO:0003070 axillary lymphadenitis skos:exactMatch UMLS:C0919797 semapv:UnspecifiedMatching MONDO:0003072 retinal cancer skos:exactMatch DOID:4645 retinal cancer semapv:UnspecifiedMatching MONDO:0003072 retinal cancer skos:exactMatch NCIT:C3216 Malignant Retinal Neoplasm semapv:UnspecifiedMatching MONDO:0003072 retinal cancer skos:exactMatch SCTID:363465007 semapv:UnspecifiedMatching MONDO:0003072 retinal cancer skos:exactMatch mesh:D019572 semapv:UnspecifiedMatching MONDO:0003073 trilateral retinoblastoma skos:exactMatch DOID:4647 trilateral retinoblastoma semapv:UnspecifiedMatching MONDO:0003073 trilateral retinoblastoma skos:exactMatch NCIT:C7019 Trilateral Retinoblastoma semapv:UnspecifiedMatching MONDO:0003073 trilateral retinoblastoma skos:exactMatch UMLS:C2608045 semapv:UnspecifiedMatching MONDO:0003075 bilateral retinoblastoma skos:exactMatch DOID:4650 bilateral retinoblastoma semapv:UnspecifiedMatching MONDO:0003075 bilateral retinoblastoma skos:exactMatch NCIT:C8713 Bilateral Retinoblastoma semapv:UnspecifiedMatching MONDO:0003075 bilateral retinoblastoma skos:exactMatch UMLS:C0854914 semapv:UnspecifiedMatching MONDO:0003076 unilateral retinoblastoma skos:exactMatch DOID:4651 unilateral retinoblastoma semapv:UnspecifiedMatching MONDO:0003076 unilateral retinoblastoma skos:exactMatch NCIT:C8714 Unilateral Retinoblastoma semapv:UnspecifiedMatching MONDO:0003076 unilateral retinoblastoma skos:exactMatch UMLS:C0854915 semapv:UnspecifiedMatching MONDO:0003077 intraocular retinoblastoma skos:exactMatch DOID:4653 intraocular retinoblastoma semapv:UnspecifiedMatching MONDO:0003077 intraocular retinoblastoma skos:exactMatch NCIT:C7846 Intraocular Retinoblastoma semapv:UnspecifiedMatching MONDO:0003077 intraocular retinoblastoma skos:exactMatch UMLS:C0278717 semapv:UnspecifiedMatching MONDO:0003078 extraocular retinoblastoma skos:exactMatch DOID:4656 extraocular retinoblastoma semapv:UnspecifiedMatching MONDO:0003078 extraocular retinoblastoma skos:exactMatch NCIT:C7848 Extraocular Retinoblastoma semapv:UnspecifiedMatching MONDO:0003078 extraocular retinoblastoma skos:exactMatch UMLS:C0278719 semapv:UnspecifiedMatching MONDO:0003079 mastocytoma skos:exactMatch NCIT:C9303 Mastocytoma semapv:UnspecifiedMatching MONDO:0003079 mastocytoma skos:exactMatch SCTID:404171008 semapv:UnspecifiedMatching MONDO:0003079 mastocytoma skos:exactMatch UMLS:C0024897 semapv:UnspecifiedMatching MONDO:0003079 mastocytoma skos:exactMatch mesh:D034801 semapv:UnspecifiedMatching MONDO:0003081 thalamic disorder skos:exactMatch DOID:4662 thalamic disease semapv:UnspecifiedMatching MONDO:0003081 thalamic disorder skos:exactMatch NCIT:C85186 Thalamic Disease semapv:UnspecifiedMatching MONDO:0003081 thalamic disorder skos:exactMatch UMLS:C0039726 semapv:UnspecifiedMatching MONDO:0003081 thalamic disorder skos:exactMatch mesh:D013786 semapv:UnspecifiedMatching MONDO:0003082 filamentary keratitis skos:exactMatch DOID:4664 filamentary keratitis semapv:UnspecifiedMatching MONDO:0003082 filamentary keratitis skos:exactMatch SCTID:51286002 semapv:UnspecifiedMatching MONDO:0003082 filamentary keratitis skos:exactMatch UMLS:C0155077 semapv:UnspecifiedMatching MONDO:0003083 venous hemangioma skos:exactMatch DOID:467 venous hemangioma semapv:UnspecifiedMatching MONDO:0003083 venous hemangioma skos:exactMatch NCIT:C4296 Venous Hemangioma semapv:UnspecifiedMatching MONDO:0003083 venous hemangioma skos:exactMatch SCTID:403968005 semapv:UnspecifiedMatching MONDO:0003083 venous hemangioma skos:exactMatch UMLS:C0334532 semapv:UnspecifiedMatching MONDO:0003084 uremic neuropathy skos:exactMatch DOID:4675 uremic neuropathy semapv:UnspecifiedMatching MONDO:0003084 uremic neuropathy skos:exactMatch NCIT:C27055 Uremic Neuropathy semapv:UnspecifiedMatching MONDO:0003084 uremic neuropathy skos:exactMatch SCTID:11659006 semapv:UnspecifiedMatching MONDO:0003084 uremic neuropathy skos:exactMatch UMLS:C0268708 semapv:UnspecifiedMatching MONDO:0003085 keratitis skos:exactMatch DOID:4677 keratitis semapv:UnspecifiedMatching MONDO:0003085 keratitis skos:exactMatch ICD10CM:H16 Keratitis semapv:UnspecifiedMatching MONDO:0003085 keratitis skos:exactMatch NCIT:C26805 Keratitis semapv:UnspecifiedMatching MONDO:0003085 keratitis skos:exactMatch SCTID:5888003 semapv:UnspecifiedMatching MONDO:0003085 keratitis skos:exactMatch UMLS:C0022568 semapv:UnspecifiedMatching MONDO:0003085 keratitis skos:exactMatch mesh:D007634 semapv:UnspecifiedMatching MONDO:0003086 thymic mucoepidermoid carcinoma skos:exactMatch DOID:4678 thymus mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0003086 thymic mucoepidermoid carcinoma skos:exactMatch NCIT:C6457 Thymic Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0003086 thymic mucoepidermoid carcinoma skos:exactMatch UMLS:C1334814 semapv:UnspecifiedMatching MONDO:0003087 mucoepidermoid breast carcinoma skos:exactMatch DOID:4679 breast mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0003087 mucoepidermoid breast carcinoma skos:exactMatch NCIT:C5166 Breast Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0003087 mucoepidermoid breast carcinoma skos:exactMatch UMLS:C1334813 semapv:UnspecifiedMatching MONDO:0003088 intramuscular hemangioma skos:exactMatch DOID:468 intramuscular hemangioma semapv:UnspecifiedMatching MONDO:0003088 intramuscular hemangioma skos:exactMatch NCIT:C3699 Intramuscular Hemangioma semapv:UnspecifiedMatching MONDO:0003088 intramuscular hemangioma skos:exactMatch UMLS:C0205789 semapv:UnspecifiedMatching MONDO:0003089 extrahepatic bile duct mucoepidermoid carcinoma skos:exactMatch DOID:4681 bile duct mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0003089 extrahepatic bile duct mucoepidermoid carcinoma skos:exactMatch NCIT:C5862 Extrahepatic Bile Duct Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0003089 extrahepatic bile duct mucoepidermoid carcinoma skos:exactMatch UMLS:C1332552 semapv:UnspecifiedMatching MONDO:0003090 extrahepatic bile duct carcinoma skos:exactMatch DOID:4682 extrahepatic bile duct carcinoma semapv:UnspecifiedMatching MONDO:0003090 extrahepatic bile duct carcinoma skos:exactMatch NCIT:C3860 Extrahepatic Bile Duct Carcinoma semapv:UnspecifiedMatching MONDO:0003090 extrahepatic bile duct carcinoma skos:exactMatch SCTID:372101000 semapv:UnspecifiedMatching MONDO:0003090 extrahepatic bile duct carcinoma skos:exactMatch UMLS:C0238019 semapv:UnspecifiedMatching MONDO:0003091 cutaneous mucoepidermoid carcinoma skos:exactMatch DOID:4683 cutaneous mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0003091 cutaneous mucoepidermoid carcinoma skos:exactMatch NCIT:C4472 Skin Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0003091 cutaneous mucoepidermoid carcinoma skos:exactMatch SCTID:254713002 semapv:UnspecifiedMatching MONDO:0003091 cutaneous mucoepidermoid carcinoma skos:exactMatch UMLS:C0346019 semapv:UnspecifiedMatching MONDO:0003092 lacrimal gland mucoepidermoid carcinoma skos:exactMatch DOID:4685 lacrimal gland mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0003092 lacrimal gland mucoepidermoid carcinoma skos:exactMatch NCIT:C6091 Lacrimal Gland Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0003092 lacrimal gland mucoepidermoid carcinoma skos:exactMatch UMLS:C1334359 semapv:UnspecifiedMatching MONDO:0003093 mucoepidermoid esophageal carcinoma skos:exactMatch DOID:4686 mucoepidermoid esophageal carcinoma semapv:UnspecifiedMatching MONDO:0003093 mucoepidermoid esophageal carcinoma skos:exactMatch NCIT:C5343 Esophageal Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0003093 mucoepidermoid esophageal carcinoma skos:exactMatch UMLS:C1333461 semapv:UnspecifiedMatching MONDO:0003095 laryngeal mucoepidermoid carcinoma skos:exactMatch DOID:4688 laryngeal mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0003095 laryngeal mucoepidermoid carcinoma skos:exactMatch NCIT:C9463 Laryngeal Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0003095 laryngeal mucoepidermoid carcinoma skos:exactMatch UMLS:C1334373 semapv:UnspecifiedMatching MONDO:0003096 deep hemangioma skos:exactMatch DOID:469 deep angioma semapv:UnspecifiedMatching MONDO:0003096 deep hemangioma skos:exactMatch NCIT:C6555 Deep Hemangioma semapv:UnspecifiedMatching MONDO:0003096 deep hemangioma skos:exactMatch UMLS:C1333265 semapv:UnspecifiedMatching MONDO:0003097 childhood mediastinal neurogenic neoplasm skos:exactMatch DOID:4690 childhood mediastinal neurogenic tumor semapv:UnspecifiedMatching MONDO:0003097 childhood mediastinal neurogenic neoplasm skos:exactMatch NCIT:C5429 Childhood Mediastinal Neurogenic Neoplasm semapv:UnspecifiedMatching MONDO:0003097 childhood mediastinal neurogenic neoplasm skos:exactMatch UMLS:C1332981 semapv:UnspecifiedMatching MONDO:0003098 mediastinal neural neoplasm skos:exactMatch DOID:4691 malignant mediastinal neurogenic neoplasm semapv:UnspecifiedMatching MONDO:0003098 mediastinal neural neoplasm skos:exactMatch NCIT:C6624 Mediastinal Neurogenic Neoplasm semapv:UnspecifiedMatching MONDO:0003098 mediastinal neural neoplasm skos:exactMatch UMLS:C1334672 semapv:UnspecifiedMatching MONDO:0003100 nerve plexus neoplasm skos:exactMatch DOID:4693 nerve plexus neoplasm semapv:UnspecifiedMatching MONDO:0003100 nerve plexus neoplasm skos:exactMatch NCIT:C5822 Nerve Plexus Neoplasm semapv:UnspecifiedMatching MONDO:0003100 nerve plexus neoplasm skos:exactMatch UMLS:C1334945 semapv:UnspecifiedMatching MONDO:0003103 nerve root neoplasm skos:exactMatch DOID:4698 nerve root neoplasm semapv:UnspecifiedMatching MONDO:0003103 nerve root neoplasm skos:exactMatch NCIT:C5119 Nerve Root Neoplasm semapv:UnspecifiedMatching MONDO:0003103 nerve root neoplasm skos:exactMatch UMLS:C1334946 semapv:UnspecifiedMatching MONDO:0003104 epicardium cancer skos:exactMatch DOID:4699 epicardium cancer semapv:UnspecifiedMatching MONDO:0003104 epicardium cancer skos:exactMatch NCIT:C4568 Malignant Epicardial Neoplasm semapv:UnspecifiedMatching MONDO:0003104 epicardium cancer skos:exactMatch UMLS:C2607932 semapv:UnspecifiedMatching MONDO:0003105 prostate disorder skos:exactMatch DOID:47 prostate disease semapv:UnspecifiedMatching MONDO:0003105 prostate disorder skos:exactMatch NCIT:C26865 Prostate Disorder semapv:UnspecifiedMatching MONDO:0003105 prostate disorder skos:exactMatch SCTID:30281009 semapv:UnspecifiedMatching MONDO:0003105 prostate disorder skos:exactMatch UMLS:C0033575 semapv:UnspecifiedMatching MONDO:0003105 prostate disorder skos:exactMatch mesh:D011469 semapv:UnspecifiedMatching MONDO:0003107 infratentorial cancer skos:exactMatch DOID:4706 infratentorial cancer semapv:UnspecifiedMatching MONDO:0003107 infratentorial cancer skos:exactMatch NCIT:C4966 Malignant Infratentorial Neoplasm semapv:UnspecifiedMatching MONDO:0003107 infratentorial cancer skos:exactMatch UMLS:C0751593 semapv:UnspecifiedMatching MONDO:0003107 infratentorial cancer skos:exactMatch mesh:D015192 semapv:UnspecifiedMatching MONDO:0003108 cervicomedullary junction neoplasm skos:exactMatch DOID:4707 cervicomedullary junction neoplasm semapv:UnspecifiedMatching MONDO:0003108 cervicomedullary junction neoplasm skos:exactMatch NCIT:C5423 Cervicomedullary Junction Neoplasm semapv:UnspecifiedMatching MONDO:0003108 cervicomedullary junction neoplasm skos:exactMatch UMLS:C1332923 semapv:UnspecifiedMatching MONDO:0003109 foramen magnum meningioma skos:exactMatch DOID:4708 foramen magnum meningioma semapv:UnspecifiedMatching MONDO:0003109 foramen magnum meningioma skos:exactMatch NCIT:C5280 Foramen Magnum Meningioma semapv:UnspecifiedMatching MONDO:0003109 foramen magnum meningioma skos:exactMatch UMLS:C1333630 semapv:UnspecifiedMatching MONDO:0003110 skin hemangioma skos:exactMatch DOID:471 skin hemangioma semapv:UnspecifiedMatching MONDO:0003110 skin hemangioma skos:exactMatch NCIT:C4905 Skin Hemangioma semapv:UnspecifiedMatching MONDO:0003110 skin hemangioma skos:exactMatch SCTID:93471006 semapv:UnspecifiedMatching MONDO:0003110 skin hemangioma skos:exactMatch UMLS:C0687140 semapv:UnspecifiedMatching MONDO:0003111 gastric neuroendocrine neoplasm skos:exactMatch DOID:4715 gastric neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO:0003111 gastric neuroendocrine neoplasm skos:exactMatch NCIT:C5696 Gastric Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0003111 gastric neuroendocrine neoplasm skos:exactMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:UnspecifiedMatching MONDO:0003111 gastric neuroendocrine neoplasm skos:exactMatch SCTID:721194008 semapv:UnspecifiedMatching MONDO:0003111 gastric neuroendocrine neoplasm skos:exactMatch UMLS:C1333783 semapv:UnspecifiedMatching MONDO:0003112 malignant gastric germ cell tumor skos:exactMatch DOID:4716 malignant gastric germ cell tumor semapv:UnspecifiedMatching MONDO:0003112 malignant gastric germ cell tumor skos:exactMatch NCIT:C5486 Malignant Gastric Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003112 malignant gastric germ cell tumor skos:exactMatch UMLS:C1334584 semapv:UnspecifiedMatching MONDO:0003113 extragonadal germ cell cancer skos:exactMatch DOID:4717 extragonadal germ cell cancer semapv:UnspecifiedMatching MONDO:0003113 extragonadal germ cell cancer skos:exactMatch NCIT:C8881 Malignant Extragonadal Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003113 extragonadal germ cell cancer skos:exactMatch UMLS:C1334581 semapv:UnspecifiedMatching MONDO:0003115 subglottic hemangioma skos:exactMatch DOID:472 subglottic angioma semapv:UnspecifiedMatching MONDO:0003115 subglottic hemangioma skos:exactMatch NCIT:C6026 Subglottic Hemangioma semapv:UnspecifiedMatching MONDO:0003115 subglottic hemangioma skos:exactMatch UMLS:C1336518 semapv:UnspecifiedMatching MONDO:0003117 somatoform disorder skos:exactMatch DOID:4737 somatoform disorder semapv:UnspecifiedMatching MONDO:0003117 somatoform disorder skos:exactMatch NCIT:C34956 Somatoform Disorder semapv:UnspecifiedMatching MONDO:0003117 somatoform disorder skos:exactMatch SCTID:31297008 semapv:UnspecifiedMatching MONDO:0003117 somatoform disorder skos:exactMatch mesh:D013001 semapv:UnspecifiedMatching MONDO:0003118 testicular Brenner tumor skos:exactMatch DOID:4739 testicular Brenner tumor semapv:UnspecifiedMatching MONDO:0003118 testicular Brenner tumor skos:exactMatch NCIT:C39953 Paratesticular Brenner Tumor semapv:UnspecifiedMatching MONDO:0003118 testicular Brenner tumor skos:exactMatch UMLS:C1515281 semapv:UnspecifiedMatching MONDO:0003120 mixed testicular germ cell cancer skos:exactMatch DOID:4743 mixed testicular germ cell tumor semapv:UnspecifiedMatching MONDO:0003120 mixed testicular germ cell cancer skos:exactMatch NCIT:C6347 Testicular Mixed Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003120 mixed testicular germ cell cancer skos:exactMatch UMLS:C1336720 semapv:UnspecifiedMatching MONDO:0003121 middle cranial fossa meningioma skos:exactMatch DOID:4749 middle cranial fossa meningioma semapv:UnspecifiedMatching MONDO:0003121 middle cranial fossa meningioma skos:exactMatch NCIT:C5586 Middle Cranial Fossa Meningioma semapv:UnspecifiedMatching MONDO:0003121 middle cranial fossa meningioma skos:exactMatch UMLS:C1334757 semapv:UnspecifiedMatching MONDO:0003122 striatonigral degeneration skos:exactMatch DOID:4751 striatonigral degeneration semapv:UnspecifiedMatching MONDO:0003122 striatonigral degeneration skos:exactMatch ICD10CM:G23.2 Striatonigral degeneration semapv:UnspecifiedMatching MONDO:0003122 striatonigral degeneration skos:exactMatch NCIT:C125695 Striatonigral Degeneration semapv:UnspecifiedMatching MONDO:0003122 striatonigral degeneration skos:exactMatch OMIMPS:271930 semapv:UnspecifiedMatching MONDO:0003122 striatonigral degeneration skos:exactMatch SCTID:29618004 semapv:UnspecifiedMatching MONDO:0003122 striatonigral degeneration skos:exactMatch UMLS:C0270733 semapv:UnspecifiedMatching MONDO:0003122 striatonigral degeneration skos:exactMatch mesh:D020955 semapv:UnspecifiedMatching MONDO:0003124 testicular Leydig cell tumor skos:exactMatch DOID:4756 testicular Leydig cell tumor semapv:UnspecifiedMatching MONDO:0003124 testicular Leydig cell tumor skos:exactMatch NCIT:C6356 Testicular Leydig Cell Tumor semapv:UnspecifiedMatching MONDO:0003124 testicular Leydig cell tumor skos:exactMatch SCTID:67871000119105 semapv:UnspecifiedMatching MONDO:0003124 testicular Leydig cell tumor skos:exactMatch UMLS:C0863027 semapv:UnspecifiedMatching MONDO:0003125 testicular sex cord-stromal neoplasm skos:exactMatch DOID:4757 testicular sex cord-stromal neoplasm semapv:UnspecifiedMatching MONDO:0003125 testicular sex cord-stromal neoplasm skos:exactMatch NCIT:C6358 Testicular Sex Cord-Stromal Tumor semapv:UnspecifiedMatching MONDO:0003125 testicular sex cord-stromal neoplasm skos:exactMatch Orphanet:363489 Sex cord-stromal tumor of testis semapv:UnspecifiedMatching MONDO:0003125 testicular sex cord-stromal neoplasm skos:exactMatch SCTID:702406000 semapv:UnspecifiedMatching MONDO:0003125 testicular sex cord-stromal neoplasm skos:exactMatch UMLS:C3840076 semapv:UnspecifiedMatching MONDO:0003126 breast hemangioma skos:exactMatch DOID:476 breast hemangioma semapv:UnspecifiedMatching MONDO:0003126 breast hemangioma skos:exactMatch NCIT:C5353 Breast Hemangioma semapv:UnspecifiedMatching MONDO:0003126 breast hemangioma skos:exactMatch UMLS:C0853715 semapv:UnspecifiedMatching MONDO:0003128 classic pulmonary blastoma skos:exactMatch DOID:4767 classic pulmonary blastoma semapv:UnspecifiedMatching MONDO:0003128 classic pulmonary blastoma skos:exactMatch NCIT:C36054 Biphasic Pulmonary Blastoma semapv:UnspecifiedMatching MONDO:0003128 classic pulmonary blastoma skos:exactMatch UMLS:C1332556 semapv:UnspecifiedMatching MONDO:0003129 epithelial predominant pulmonary blastoma skos:exactMatch DOID:4768 epithelial predominant pulmonary blastoma semapv:UnspecifiedMatching MONDO:0003129 epithelial predominant pulmonary blastoma skos:exactMatch NCIT:C36053 Epithelial Predominant Pulmonary Blastoma semapv:UnspecifiedMatching MONDO:0003129 epithelial predominant pulmonary blastoma skos:exactMatch UMLS:C1333420 semapv:UnspecifiedMatching MONDO:0003130 mesoblastic nephroma skos:exactMatch SCTID:307604008 semapv:UnspecifiedMatching MONDO:0003130 mesoblastic nephroma skos:exactMatch UMLS:C0206628 semapv:UnspecifiedMatching MONDO:0003130 mesoblastic nephroma skos:exactMatch mesh:D018201 semapv:UnspecifiedMatching MONDO:0003133 exudative glomerulonephritis skos:exactMatch DOID:4777 exudative glomerulonephritis semapv:UnspecifiedMatching MONDO:0003133 exudative glomerulonephritis skos:exactMatch NCIT:C35706 Exudative Glomerulonephritis semapv:UnspecifiedMatching MONDO:0003133 exudative glomerulonephritis skos:exactMatch UMLS:C0546345 semapv:UnspecifiedMatching MONDO:0003134 proliferative glomerulonephritis skos:exactMatch DOID:4778 proliferative glomerulonephritis semapv:UnspecifiedMatching MONDO:0003134 proliferative glomerulonephritis skos:exactMatch NCIT:C35281 Proliferative Glomerulonephritis semapv:UnspecifiedMatching MONDO:0003134 proliferative glomerulonephritis skos:exactMatch SCTID:441815006 semapv:UnspecifiedMatching MONDO:0003134 proliferative glomerulonephritis skos:exactMatch UMLS:C0235618 semapv:UnspecifiedMatching MONDO:0003135 focal embolic glomerulonephritis skos:exactMatch DOID:4779 focal embolic glomerulonephritis semapv:UnspecifiedMatching MONDO:0003135 focal embolic glomerulonephritis skos:exactMatch NCIT:C35707 Focal Embolic Glomerulonephritis semapv:UnspecifiedMatching MONDO:0003135 focal embolic glomerulonephritis skos:exactMatch UMLS:C0238143 semapv:UnspecifiedMatching MONDO:0003136 anti-basement membrane glomerulonephritis skos:exactMatch DOID:4780 anti-basement membrane glomerulonephritis semapv:UnspecifiedMatching MONDO:0003136 anti-basement membrane glomerulonephritis skos:exactMatch NCIT:C35798 Anti-Basement Membrane Glomerulonephritis semapv:UnspecifiedMatching MONDO:0003136 anti-basement membrane glomerulonephritis skos:exactMatch UMLS:C1332309 semapv:UnspecifiedMatching MONDO:0003137 diffuse glomerulonephritis skos:exactMatch DOID:4781 diffuse glomerulonephritis semapv:UnspecifiedMatching MONDO:0003137 diffuse glomerulonephritis skos:exactMatch NCIT:C35799 Diffuse Glomerulonephritis semapv:UnspecifiedMatching MONDO:0003137 diffuse glomerulonephritis skos:exactMatch UMLS:C0859036 semapv:UnspecifiedMatching MONDO:0003138 subacute glomerulonephritis skos:exactMatch DOID:4782 subacute glomerulonephritis semapv:UnspecifiedMatching MONDO:0003138 subacute glomerulonephritis skos:exactMatch NCIT:C35801 Subacute Glomerulonephritis semapv:UnspecifiedMatching MONDO:0003138 subacute glomerulonephritis skos:exactMatch SCTID:123609007 semapv:UnspecifiedMatching MONDO:0003138 subacute glomerulonephritis skos:exactMatch UMLS:C1263744 semapv:UnspecifiedMatching MONDO:0003139 mesangial proliferative glomerulonephritis skos:exactMatch DOID:4783 mesangial proliferative glomerulonephritis semapv:UnspecifiedMatching MONDO:0003139 mesangial proliferative glomerulonephritis skos:exactMatch NCIT:C35445 Mesangial Proliferative Glomerulonephritis semapv:UnspecifiedMatching MONDO:0003139 mesangial proliferative glomerulonephritis skos:exactMatch SCTID:35546006 semapv:UnspecifiedMatching MONDO:0003139 mesangial proliferative glomerulonephritis skos:exactMatch UMLS:C0221238 semapv:UnspecifiedMatching MONDO:0003140 immune-complex glomerulonephritis skos:exactMatch DOID:4784 immune-complex glomerulonephritis semapv:UnspecifiedMatching MONDO:0003140 immune-complex glomerulonephritis skos:exactMatch NCIT:C35800 Immune Complex Glomerulonephritis semapv:UnspecifiedMatching MONDO:0003140 immune-complex glomerulonephritis skos:exactMatch SCTID:123752003 semapv:UnspecifiedMatching MONDO:0003140 immune-complex glomerulonephritis skos:exactMatch UMLS:C0744421 semapv:UnspecifiedMatching MONDO:0003141 cerebellopontine angle embryonal tumor skos:exactMatch DOID:4787 cerebellopontine angle primitive neuroectodermal tumor semapv:UnspecifiedMatching MONDO:0003141 cerebellopontine angle embryonal tumor skos:exactMatch NCIT:C5436 Cerebellopontine Angle Embryonal Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0003141 cerebellopontine angle embryonal tumor skos:exactMatch UMLS:C1332904 semapv:UnspecifiedMatching MONDO:0003142 intracranial primitive neuroectodermal tumor skos:exactMatch DOID:4788 intracranial primitive neuroectodermal tumor semapv:UnspecifiedMatching MONDO:0003142 intracranial primitive neuroectodermal tumor skos:exactMatch NCIT:C5817 Intracranial Embryonal Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0003142 intracranial primitive neuroectodermal tumor skos:exactMatch UMLS:C1334246 semapv:UnspecifiedMatching MONDO:0003143 angiokeratoma skos:exactMatch DOID:479 angiokeratoma semapv:UnspecifiedMatching MONDO:0003143 angiokeratoma skos:exactMatch NCIT:C2874 Angiokeratoma semapv:UnspecifiedMatching MONDO:0003143 angiokeratoma skos:exactMatch NCIT:C4488 Skin Angiokeratoma semapv:UnspecifiedMatching MONDO:0003143 angiokeratoma skos:exactMatch SCTID:254788004 semapv:UnspecifiedMatching MONDO:0003143 angiokeratoma skos:exactMatch UMLS:C0002985 semapv:UnspecifiedMatching MONDO:0003143 angiokeratoma skos:exactMatch mesh:D000794 semapv:UnspecifiedMatching MONDO:0003144 medulloepithelioma skos:exactMatch DOID:4790 medulloepithelioma semapv:UnspecifiedMatching MONDO:0003144 medulloepithelioma skos:exactMatch NCIT:C4327 Central Nervous System Medulloepithelioma semapv:UnspecifiedMatching MONDO:0003144 medulloepithelioma skos:exactMatch Orphanet:251883 Medulloepithelioma of the central nervous system semapv:UnspecifiedMatching MONDO:0003144 medulloepithelioma skos:exactMatch SCTID:715903004 semapv:UnspecifiedMatching MONDO:0003144 medulloepithelioma skos:exactMatch UMLS:C5231013 semapv:UnspecifiedMatching MONDO:0003145 supratentorial primitive neuroectodermal tumor skos:exactMatch DOID:4791 supratentorial primitive neuroectodermal tumor semapv:UnspecifiedMatching MONDO:0003145 supratentorial primitive neuroectodermal tumor skos:exactMatch NCIT:C6968 Supratentorial Embryonal Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0003145 supratentorial primitive neuroectodermal tumor skos:exactMatch SCTID:699318007 semapv:UnspecifiedMatching MONDO:0003145 supratentorial primitive neuroectodermal tumor skos:exactMatch UMLS:C1336538 semapv:UnspecifiedMatching MONDO:0003147 space motion sickness skos:exactMatch DOID:4796 space motion sickness semapv:UnspecifiedMatching MONDO:0003147 space motion sickness skos:exactMatch UMLS:C0242700 semapv:UnspecifiedMatching MONDO:0003147 space motion sickness skos:exactMatch mesh:D018489 semapv:UnspecifiedMatching MONDO:0003150 male reproductive system disorder skos:exactMatch DOID:48 male reproductive system disease semapv:UnspecifiedMatching MONDO:0003150 male reproductive system disorder skos:exactMatch ICD10CM:N40-N53 Diseases of male genital organs (N40-N53) semapv:UnspecifiedMatching MONDO:0003150 male reproductive system disorder skos:exactMatch ICD10WHO:N40-N51 Diseases of male genital organs semapv:UnspecifiedMatching MONDO:0003150 male reproductive system disorder skos:exactMatch NCIT:C27019 Male Reproductive System Disorder semapv:UnspecifiedMatching MONDO:0003150 male reproductive system disorder skos:exactMatch SCTID:363194005 semapv:UnspecifiedMatching MONDO:0003150 male reproductive system disorder skos:exactMatch mesh:D005832 semapv:UnspecifiedMatching MONDO:0003152 adult brainstem gliosarcoma skos:exactMatch DOID:4812 adult brainstem gliosarcoma semapv:UnspecifiedMatching MONDO:0003152 adult brainstem gliosarcoma skos:exactMatch NCIT:C9370 Adult Brain Stem Gliosarcoma semapv:UnspecifiedMatching MONDO:0003152 adult brainstem gliosarcoma skos:exactMatch UMLS:C1377914 semapv:UnspecifiedMatching MONDO:0003153 adult brainstem glioma skos:exactMatch DOID:4813 adult brain stem glioma semapv:UnspecifiedMatching MONDO:0003153 adult brainstem glioma skos:exactMatch NCIT:C9091 Adult Brain Stem Glioma semapv:UnspecifiedMatching MONDO:0003153 adult brainstem glioma skos:exactMatch UMLS:C0278873 semapv:UnspecifiedMatching MONDO:0003154 hemangioma of peripheral nerve skos:exactMatch DOID:482 hemangioma of peripheral nerve semapv:UnspecifiedMatching MONDO:0003154 hemangioma of peripheral nerve skos:exactMatch NCIT:C27507 Hemangioma of Peripheral Nerve semapv:UnspecifiedMatching MONDO:0003154 hemangioma of peripheral nerve skos:exactMatch UMLS:C1333956 semapv:UnspecifiedMatching MONDO:0003155 cavernous hemangioma skos:exactMatch DOID:483 cavernous hemangioma semapv:UnspecifiedMatching MONDO:0003155 cavernous hemangioma skos:exactMatch NCIT:C3086 Cavernous Hemangioma semapv:UnspecifiedMatching MONDO:0003155 cavernous hemangioma skos:exactMatch SCTID:416824008 semapv:UnspecifiedMatching MONDO:0003155 cavernous hemangioma skos:exactMatch UMLS:C0018920 semapv:UnspecifiedMatching MONDO:0003155 cavernous hemangioma skos:exactMatch mesh:D006392 semapv:UnspecifiedMatching MONDO:0003157 disappearing bone disease skos:exactMatch DOID:4837 Gorham's disease semapv:UnspecifiedMatching MONDO:0003157 disappearing bone disease skos:exactMatch SCTID:240161003 semapv:UnspecifiedMatching MONDO:0003157 disappearing bone disease skos:exactMatch UMLS:C0029436 semapv:UnspecifiedMatching MONDO:0003158 malignant myoepithelioma skos:exactMatch DOID:4838 myoepithelial carcinoma semapv:UnspecifiedMatching MONDO:0003158 malignant myoepithelioma skos:exactMatch NCIT:C7596 Malignant Myoepithelioma semapv:UnspecifiedMatching MONDO:0003158 malignant myoepithelioma skos:exactMatch UMLS:C0334699 semapv:UnspecifiedMatching MONDO:0003159 vascular hemostatic disease skos:exactMatch DOID:484 vascular hemostatic disease semapv:UnspecifiedMatching MONDO:0003159 vascular hemostatic disease skos:exactMatch SCTID:21112004 semapv:UnspecifiedMatching MONDO:0003159 vascular hemostatic disease skos:exactMatch UMLS:C0600502 semapv:UnspecifiedMatching MONDO:0003159 vascular hemostatic disease skos:exactMatch mesh:D020141 semapv:UnspecifiedMatching MONDO:0003163 cauda equina intradural extramedullary astrocytoma skos:exactMatch DOID:4846 cauda equina intradural extramedullary astrocytoma semapv:UnspecifiedMatching MONDO:0003163 cauda equina intradural extramedullary astrocytoma skos:exactMatch NCIT:C5408 Intradural Extramedullary Cauda Equina Astrocytoma semapv:UnspecifiedMatching MONDO:0003163 cauda equina intradural extramedullary astrocytoma skos:exactMatch UMLS:C1334254 semapv:UnspecifiedMatching MONDO:0003164 cauda equina neoplasm skos:exactMatch DOID:4847 cauda equina neoplasm semapv:UnspecifiedMatching MONDO:0003164 cauda equina neoplasm skos:exactMatch NCIT:C5479 Cauda Equina Neoplasm semapv:UnspecifiedMatching MONDO:0003164 cauda equina neoplasm skos:exactMatch SCTID:126963001 semapv:UnspecifiedMatching MONDO:0003164 cauda equina neoplasm skos:exactMatch UMLS:C1263892 semapv:UnspecifiedMatching MONDO:0003165 cerebellar astrocytoma skos:exactMatch DOID:4848 cerebellar astrocytoma semapv:UnspecifiedMatching MONDO:0003165 cerebellar astrocytoma skos:exactMatch NCIT:C9475 Cerebellar Astrocytoma semapv:UnspecifiedMatching MONDO:0003165 cerebellar astrocytoma skos:exactMatch UMLS:C0740480 semapv:UnspecifiedMatching MONDO:0003168 cerebellar pilocytic astrocytoma skos:exactMatch DOID:4853 pilocytic astrocytoma of cerebellum semapv:UnspecifiedMatching MONDO:0003168 cerebellar pilocytic astrocytoma skos:exactMatch NCIT:C6809 Cerebellar Pilocytic Astrocytoma semapv:UnspecifiedMatching MONDO:0003168 cerebellar pilocytic astrocytoma skos:exactMatch SCTID:277507004 semapv:UnspecifiedMatching MONDO:0003168 cerebellar pilocytic astrocytoma skos:exactMatch UMLS:C0349620 semapv:UnspecifiedMatching MONDO:0003169 diencephalic astrocytomas skos:exactMatch DOID:4855 diencephalic astrocytoma semapv:UnspecifiedMatching MONDO:0003169 diencephalic astrocytomas skos:exactMatch NCIT:C5128 Diencephalic Astrocytoma semapv:UnspecifiedMatching MONDO:0003169 diencephalic astrocytomas skos:exactMatch UMLS:C1333284 semapv:UnspecifiedMatching MONDO:0003170 gliofibroma skos:exactMatch DOID:4856 gliofibroma semapv:UnspecifiedMatching MONDO:0003170 gliofibroma skos:exactMatch NCIT:C5419 Gliofibroma semapv:UnspecifiedMatching MONDO:0003170 gliofibroma skos:exactMatch UMLS:C1266178 semapv:UnspecifiedMatching MONDO:0003171 pineal gland astrocytoma skos:exactMatch DOID:4858 pineal gland astrocytoma semapv:UnspecifiedMatching MONDO:0003171 pineal gland astrocytoma skos:exactMatch NCIT:C8274 Pineal Gland Astrocytoma semapv:UnspecifiedMatching MONDO:0003171 pineal gland astrocytoma skos:exactMatch UMLS:C0280795 semapv:UnspecifiedMatching MONDO:0003172 glomeruloid hemangioma skos:exactMatch DOID:486 glomeruloid hemangioma semapv:UnspecifiedMatching MONDO:0003172 glomeruloid hemangioma skos:exactMatch NCIT:C27505 Glomeruloid Hemangioma semapv:UnspecifiedMatching MONDO:0003172 glomeruloid hemangioma skos:exactMatch SCTID:403976007 semapv:UnspecifiedMatching MONDO:0003172 glomeruloid hemangioma skos:exactMatch UMLS:C1304511 semapv:UnspecifiedMatching MONDO:0003173 brain stem astrocytic neoplasm skos:exactMatch DOID:4860 brain stem astrocytic neoplasm semapv:UnspecifiedMatching MONDO:0003173 brain stem astrocytic neoplasm skos:exactMatch NCIT:C7445 Brain Stem Astrocytoma semapv:UnspecifiedMatching MONDO:0003173 brain stem astrocytic neoplasm skos:exactMatch SCTID:107581000119103 semapv:UnspecifiedMatching MONDO:0003173 brain stem astrocytic neoplasm skos:exactMatch UMLS:C1332608 semapv:UnspecifiedMatching MONDO:0003174 spinal cord astrocytoma skos:exactMatch DOID:4863 spinal cord astrocytoma semapv:UnspecifiedMatching MONDO:0003174 spinal cord astrocytoma skos:exactMatch NCIT:C4641 Spinal Cord Astrocytoma semapv:UnspecifiedMatching MONDO:0003174 spinal cord astrocytoma skos:exactMatch SCTID:254948003 semapv:UnspecifiedMatching MONDO:0003174 spinal cord astrocytoma skos:exactMatch UMLS:C0349540 semapv:UnspecifiedMatching MONDO:0003175 salivary gland adenoid cystic carcinoma skos:exactMatch DOID:4866 salivary gland adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0003175 salivary gland adenoid cystic carcinoma skos:exactMatch NCIT:C8026 Salivary Gland Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0003175 salivary gland adenoid cystic carcinoma skos:exactMatch SCTID:422833009 semapv:UnspecifiedMatching MONDO:0003175 salivary gland adenoid cystic carcinoma skos:exactMatch UMLS:C0279751 semapv:UnspecifiedMatching MONDO:0003177 prostate adenoid cystic carcinoma skos:exactMatch DOID:4868 prostate adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0003177 prostate adenoid cystic carcinoma skos:exactMatch NCIT:C5539 Prostate Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0003177 prostate adenoid cystic carcinoma skos:exactMatch UMLS:C1335502 semapv:UnspecifiedMatching MONDO:0003180 cutaneous adenocystic carcinoma skos:exactMatch DOID:4871 cutaneous adenocystic carcinoma semapv:UnspecifiedMatching MONDO:0003180 cutaneous adenocystic carcinoma skos:exactMatch NCIT:C4471 Adenoid Cystic Skin Carcinoma semapv:UnspecifiedMatching MONDO:0003180 cutaneous adenocystic carcinoma skos:exactMatch SCTID:254711000 semapv:UnspecifiedMatching MONDO:0003180 cutaneous adenocystic carcinoma skos:exactMatch UMLS:C0346017 semapv:UnspecifiedMatching MONDO:0003181 lung adenoid cystic carcinoma skos:exactMatch DOID:4872 lung adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0003181 lung adenoid cystic carcinoma skos:exactMatch NCIT:C5666 Lung Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0003181 lung adenoid cystic carcinoma skos:exactMatch SCTID:707466008 semapv:UnspecifiedMatching MONDO:0003181 lung adenoid cystic carcinoma skos:exactMatch UMLS:C1334439 semapv:UnspecifiedMatching MONDO:0003182 anterior horn disorder skos:exactMatch DOID:4873 anterior horn cell disease semapv:UnspecifiedMatching MONDO:0003184 trachea carcinoma skos:exactMatch DOID:4876 trachea carcinoma semapv:UnspecifiedMatching MONDO:0003184 trachea carcinoma skos:exactMatch NCIT:C9347 Tracheal Carcinoma semapv:UnspecifiedMatching MONDO:0003184 trachea carcinoma skos:exactMatch UMLS:C1744708 semapv:UnspecifiedMatching MONDO:0003185 adenoid cystic breast carcinoma skos:exactMatch DOID:4877 breast adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0003185 adenoid cystic breast carcinoma skos:exactMatch NCIT:C5130 Breast Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0003185 adenoid cystic breast carcinoma skos:exactMatch UMLS:C1332167 semapv:UnspecifiedMatching MONDO:0003186 esophageal adenoid cystic carcinoma skos:exactMatch DOID:4878 esophageal adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0003186 esophageal adenoid cystic carcinoma skos:exactMatch NCIT:C5342 Esophageal Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0003186 esophageal adenoid cystic carcinoma skos:exactMatch UMLS:C1333441 semapv:UnspecifiedMatching MONDO:0003187 Bartholin gland adenoid cystic carcinoma skos:exactMatch DOID:4879 Bartholin's gland adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0003187 Bartholin gland adenoid cystic carcinoma skos:exactMatch NCIT:C40295 Bartholin Gland Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0003187 Bartholin gland adenoid cystic carcinoma skos:exactMatch UMLS:C1511047 semapv:UnspecifiedMatching MONDO:0003189 middle ear adenocarcinoma skos:exactMatch DOID:4892 middle ear adenocarcinoma semapv:UnspecifiedMatching MONDO:0003189 middle ear adenocarcinoma skos:exactMatch NCIT:C6848 Middle Ear Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003189 middle ear adenocarcinoma skos:exactMatch UMLS:C1334758 semapv:UnspecifiedMatching MONDO:0003190 middle ear carcinoma skos:exactMatch DOID:4893 middle ear carcinoma semapv:UnspecifiedMatching MONDO:0003190 middle ear carcinoma skos:exactMatch NCIT:C6089 Middle Ear Carcinoma semapv:UnspecifiedMatching MONDO:0003190 middle ear carcinoma skos:exactMatch UMLS:C1334760 semapv:UnspecifiedMatching MONDO:0003191 rete ovarii adenocarcinoma skos:exactMatch DOID:4894 rete ovarii adenocarcinoma semapv:UnspecifiedMatching MONDO:0003191 rete ovarii adenocarcinoma skos:exactMatch NCIT:C40017 Rete Ovarii Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003191 rete ovarii adenocarcinoma skos:exactMatch UMLS:C3840223 semapv:UnspecifiedMatching MONDO:0003192 rete ovarii neoplasm skos:exactMatch DOID:4895 rete ovarii benign neoplasm semapv:UnspecifiedMatching MONDO:0003192 rete ovarii neoplasm skos:exactMatch NCIT:C40016 Rete Ovarii Neoplasm semapv:UnspecifiedMatching MONDO:0003192 rete ovarii neoplasm skos:exactMatch UMLS:C1514909 semapv:UnspecifiedMatching MONDO:0003193 bile duct adenocarcinoma skos:exactMatch DOID:4896 bile duct adenocarcinoma semapv:UnspecifiedMatching MONDO:0003193 bile duct adenocarcinoma skos:exactMatch NCIT:C27813 Bile Duct Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003193 bile duct adenocarcinoma skos:exactMatch UMLS:C1370800 semapv:UnspecifiedMatching MONDO:0003194 hemangioma of lung skos:exactMatch DOID:490 hemangioma of lung semapv:UnspecifiedMatching MONDO:0003195 peritoneal serous adenocarcinoma skos:exactMatch DOID:4901 peritoneal serous adenocarcinoma semapv:UnspecifiedMatching MONDO:0003196 appendix carcinoma skos:exactMatch DOID:4902 appendix carcinoma semapv:UnspecifiedMatching MONDO:0003196 appendix carcinoma skos:exactMatch NCIT:C9330 Appendix Carcinoma semapv:UnspecifiedMatching MONDO:0003196 appendix carcinoma skos:exactMatch SCTID:448992002 semapv:UnspecifiedMatching MONDO:0003196 appendix carcinoma skos:exactMatch UMLS:C0728951 semapv:UnspecifiedMatching MONDO:0003197 granular cell carcinoma skos:exactMatch DOID:4903 granular cell carcinoma semapv:UnspecifiedMatching MONDO:0003197 granular cell carcinoma skos:exactMatch NCIT:C3681 Granular Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003197 granular cell carcinoma skos:exactMatch UMLS:C0205644 semapv:UnspecifiedMatching MONDO:0003198 small intestine adenocarcinoma skos:exactMatch DOID:4906 small intestine adenocarcinoma semapv:UnspecifiedMatching MONDO:0003198 small intestine adenocarcinoma skos:exactMatch NCIT:C7888 Small Intestinal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003198 small intestine adenocarcinoma skos:exactMatch Orphanet:104075 Adenocarcinoma of the small intestine semapv:UnspecifiedMatching MONDO:0003198 small intestine adenocarcinoma skos:exactMatch SCTID:424440001 semapv:UnspecifiedMatching MONDO:0003198 small intestine adenocarcinoma skos:exactMatch UMLS:C0278803 semapv:UnspecifiedMatching MONDO:0003199 anal carcinoma skos:exactMatch DOID:4908 anal carcinoma semapv:UnspecifiedMatching MONDO:0003199 anal carcinoma skos:exactMatch NCIT:C9291 Anal Carcinoma semapv:UnspecifiedMatching MONDO:0003199 anal carcinoma skos:exactMatch SCTID:448315008 semapv:UnspecifiedMatching MONDO:0003199 anal carcinoma skos:exactMatch UMLS:C0279637 semapv:UnspecifiedMatching MONDO:0003200 urethra adenocarcinoma skos:exactMatch DOID:4910 urethra adenocarcinoma semapv:UnspecifiedMatching MONDO:0003200 urethra adenocarcinoma skos:exactMatch NCIT:C6167 Urethral Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003200 urethra adenocarcinoma skos:exactMatch UMLS:C1336885 semapv:UnspecifiedMatching MONDO:0003202 pituitary gland basophilic carcinoma skos:exactMatch DOID:4915 basophilic adenocarcinoma semapv:UnspecifiedMatching MONDO:0003202 pituitary gland basophilic carcinoma skos:exactMatch NCIT:C27392 Pituitary Gland Basophil Carcinoma semapv:UnspecifiedMatching MONDO:0003202 pituitary gland basophilic carcinoma skos:exactMatch UMLS:C1704778 semapv:UnspecifiedMatching MONDO:0003204 villous adenocarcinoma skos:exactMatch DOID:4917 villous adenocarcinoma semapv:UnspecifiedMatching MONDO:0003204 villous adenocarcinoma skos:exactMatch NCIT:C4142 Villous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003204 villous adenocarcinoma skos:exactMatch UMLS:C0334306 semapv:UnspecifiedMatching MONDO:0003205 renal pelvis adenocarcinoma skos:exactMatch DOID:4918 renal pelvis adenocarcinoma semapv:UnspecifiedMatching MONDO:0003205 renal pelvis adenocarcinoma skos:exactMatch NCIT:C6143 Renal Pelvis Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003205 renal pelvis adenocarcinoma skos:exactMatch UMLS:C1335748 semapv:UnspecifiedMatching MONDO:0003206 acquired hemangioma skos:exactMatch DOID:492 acquired hemangioma semapv:UnspecifiedMatching MONDO:0003206 acquired hemangioma skos:exactMatch NCIT:C27018 Acquired Hemangioma semapv:UnspecifiedMatching MONDO:0003206 acquired hemangioma skos:exactMatch UMLS:C0856897 semapv:UnspecifiedMatching MONDO:0003208 breast secretory carcinoma skos:exactMatch DOID:4922 breast secretory carcinoma semapv:UnspecifiedMatching MONDO:0003208 breast secretory carcinoma skos:exactMatch NCIT:C4189 Breast Secretory Carcinoma semapv:UnspecifiedMatching MONDO:0003208 breast secretory carcinoma skos:exactMatch UMLS:C0334371 semapv:UnspecifiedMatching MONDO:0003208 breast secretory carcinoma skos:exactMatch mesh:C537535 semapv:UnspecifiedMatching MONDO:0003209 thymus gland adenocarcinoma skos:exactMatch DOID:4923 thymus adenocarcinoma semapv:UnspecifiedMatching MONDO:0003209 thymus gland adenocarcinoma skos:exactMatch NCIT:C6459 Thymic Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003209 thymus gland adenocarcinoma skos:exactMatch UMLS:C1336743 semapv:UnspecifiedMatching MONDO:0003210 intrahepatic cholangiocarcinoma skos:exactMatch DOID:4928 intrahepatic cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0003210 intrahepatic cholangiocarcinoma skos:exactMatch NCIT:C35417 Intrahepatic Cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0003210 intrahepatic cholangiocarcinoma skos:exactMatch SCTID:109842005 semapv:UnspecifiedMatching MONDO:0003210 intrahepatic cholangiocarcinoma skos:exactMatch UMLS:C0345905 semapv:UnspecifiedMatching MONDO:0003211 nasal cavity adenocarcinoma skos:exactMatch DOID:4930 nasal cavity adenocarcinoma semapv:UnspecifiedMatching MONDO:0003211 nasal cavity adenocarcinoma skos:exactMatch NCIT:C6015 Nasal Cavity Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003211 nasal cavity adenocarcinoma skos:exactMatch UMLS:C1334920 semapv:UnspecifiedMatching MONDO:0003212 nasal cavity carcinoma skos:exactMatch DOID:4931 nasal cavity carcinoma semapv:UnspecifiedMatching MONDO:0003212 nasal cavity carcinoma skos:exactMatch NCIT:C9336 Nasal Cavity Carcinoma semapv:UnspecifiedMatching MONDO:0003212 nasal cavity carcinoma skos:exactMatch SCTID:448990005 semapv:UnspecifiedMatching MONDO:0003212 nasal cavity carcinoma skos:exactMatch UMLS:C1377785 semapv:UnspecifiedMatching MONDO:0003214 apocrine adenocarcinoma skos:exactMatch DOID:4933 apocrine carcinoma semapv:UnspecifiedMatching MONDO:0003214 apocrine adenocarcinoma skos:exactMatch NCIT:C4169 Apocrine Carcinoma semapv:UnspecifiedMatching MONDO:0003214 apocrine adenocarcinoma skos:exactMatch UMLS:C0334346 semapv:UnspecifiedMatching MONDO:0003215 apocrine sweat gland cancer skos:exactMatch DOID:4934 apocrine sweat gland cancer semapv:UnspecifiedMatching MONDO:0003215 apocrine sweat gland cancer skos:exactMatch NCIT:C6800 Malignant Apocrine Neoplasm semapv:UnspecifiedMatching MONDO:0003215 apocrine sweat gland cancer skos:exactMatch UMLS:C1334561 semapv:UnspecifiedMatching MONDO:0003216 ureter adenocarcinoma skos:exactMatch DOID:4938 ureter adenocarcinoma semapv:UnspecifiedMatching MONDO:0003216 ureter adenocarcinoma skos:exactMatch NCIT:C6155 Ureter Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003216 ureter adenocarcinoma skos:exactMatch UMLS:C1336873 semapv:UnspecifiedMatching MONDO:0003218 adenocarcinoma in situ skos:exactMatch DOID:4943 adenocarcinoma in situ semapv:UnspecifiedMatching MONDO:0003218 adenocarcinoma in situ skos:exactMatch NCIT:C4123 Adenocarcinoma In Situ semapv:UnspecifiedMatching MONDO:0003218 adenocarcinoma in situ skos:exactMatch UMLS:C0334276 semapv:UnspecifiedMatching MONDO:0003218 adenocarcinoma in situ skos:exactMatch mesh:D065311 semapv:UnspecifiedMatching MONDO:0003219 gastroesophageal junction adenocarcinoma skos:exactMatch DOID:4944 gastroesophageal junction adenocarcinoma semapv:UnspecifiedMatching MONDO:0003219 gastroesophageal junction adenocarcinoma skos:exactMatch NCIT:C9296 Gastroesophageal Junction Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003219 gastroesophageal junction adenocarcinoma skos:exactMatch UMLS:C1332166 semapv:UnspecifiedMatching MONDO:0003220 gallbladder carcinoma skos:exactMatch DOID:4948 gallbladder carcinoma semapv:UnspecifiedMatching MONDO:0003220 gallbladder carcinoma skos:exactMatch NCIT:C3844 Gallbladder Carcinoma semapv:UnspecifiedMatching MONDO:0003220 gallbladder carcinoma skos:exactMatch SCTID:372140005 semapv:UnspecifiedMatching MONDO:0003220 gallbladder carcinoma skos:exactMatch UMLS:C0235782 semapv:UnspecifiedMatching MONDO:0003222 central nervous system melanocytic neoplasm skos:exactMatch DOID:4955 central nervous system melanocytic neoplasm semapv:UnspecifiedMatching MONDO:0003222 central nervous system melanocytic neoplasm skos:exactMatch NCIT:C5504 Central Nervous System Melanocytic Neoplasm semapv:UnspecifiedMatching MONDO:0003222 central nervous system melanocytic neoplasm skos:exactMatch SCTID:277523004 semapv:UnspecifiedMatching MONDO:0003222 central nervous system melanocytic neoplasm skos:exactMatch UMLS:C1332887 semapv:UnspecifiedMatching MONDO:0003223 meninges hemangiopericytoma skos:exactMatch DOID:4957 meninges hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003223 meninges hemangiopericytoma skos:exactMatch NCIT:C4660 Meningeal Solitary Fibrous Tumor semapv:UnspecifiedMatching MONDO:0003223 meninges hemangiopericytoma skos:exactMatch SCTID:277522009 semapv:UnspecifiedMatching MONDO:0003223 meninges hemangiopericytoma skos:exactMatch UMLS:C0349622 semapv:UnspecifiedMatching MONDO:0003225 bone marrow disorder skos:exactMatch DOID:4961 bone marrow disease semapv:UnspecifiedMatching MONDO:0003225 bone marrow disorder skos:exactMatch NCIT:C34433 Bone Marrow Disorder semapv:UnspecifiedMatching MONDO:0003225 bone marrow disorder skos:exactMatch SCTID:127035006 semapv:UnspecifiedMatching MONDO:0003225 bone marrow disorder skos:exactMatch UMLS:C4021634 semapv:UnspecifiedMatching MONDO:0003225 bone marrow disorder skos:exactMatch mesh:D001855 semapv:UnspecifiedMatching MONDO:0003227 prosopagnosia skos:exactMatch DOID:4970 prosopagnosia semapv:UnspecifiedMatching MONDO:0003227 prosopagnosia skos:exactMatch NCIT:C85031 Prosopagnosia semapv:UnspecifiedMatching MONDO:0003227 prosopagnosia skos:exactMatch mesh:D020238 semapv:UnspecifiedMatching MONDO:0003231 acute nonparalytic poliomyelitis skos:exactMatch DOID:4986 nonparalytic poliomyelitis semapv:UnspecifiedMatching MONDO:0003231 acute nonparalytic poliomyelitis skos:exactMatch ICD10CM:A80.4 Acute nonparalytic poliomyelitis semapv:UnspecifiedMatching MONDO:0003231 acute nonparalytic poliomyelitis skos:exactMatch SCTID:14535005 semapv:UnspecifiedMatching MONDO:0003231 acute nonparalytic poliomyelitis skos:exactMatch UMLS:C0152998 semapv:UnspecifiedMatching MONDO:0003232 alcoholic pancreatitis skos:exactMatch DOID:4988 alcoholic pancreatitis semapv:UnspecifiedMatching MONDO:0003232 alcoholic pancreatitis skos:exactMatch SCTID:445507008 semapv:UnspecifiedMatching MONDO:0003232 alcoholic pancreatitis skos:exactMatch UMLS:C0376670 semapv:UnspecifiedMatching MONDO:0003232 alcoholic pancreatitis skos:exactMatch mesh:D019512 semapv:UnspecifiedMatching MONDO:0003233 essential tremor skos:exactMatch DOID:4990 essential tremor semapv:UnspecifiedMatching MONDO:0003233 essential tremor skos:exactMatch ICD10CM:G25.0 Essential tremor semapv:UnspecifiedMatching MONDO:0003233 essential tremor skos:exactMatch OMIMPS:190300 semapv:UnspecifiedMatching MONDO:0003233 essential tremor skos:exactMatch SCTID:609558009 semapv:UnspecifiedMatching MONDO:0003233 essential tremor skos:exactMatch UMLS:C0270736 semapv:UnspecifiedMatching MONDO:0003233 essential tremor skos:exactMatch mesh:D020329 semapv:UnspecifiedMatching MONDO:0003234 optic nerve astrocytoma skos:exactMatch DOID:4991 optic nerve astrocytoma semapv:UnspecifiedMatching MONDO:0003234 optic nerve astrocytoma skos:exactMatch NCIT:C6769 Optic Nerve Astrocytoma semapv:UnspecifiedMatching MONDO:0003234 optic nerve astrocytoma skos:exactMatch UMLS:C1335114 semapv:UnspecifiedMatching MONDO:0003235 optic nerve glioma skos:exactMatch DOID:4992 optic nerve glioma semapv:UnspecifiedMatching MONDO:0003235 optic nerve glioma skos:exactMatch NCIT:C4537 Optic Nerve Glioma semapv:UnspecifiedMatching MONDO:0003235 optic nerve glioma skos:exactMatch SCTID:254976006 semapv:UnspecifiedMatching MONDO:0003235 optic nerve glioma skos:exactMatch UMLS:C0346326 semapv:UnspecifiedMatching MONDO:0003235 optic nerve glioma skos:exactMatch mesh:D020339 semapv:UnspecifiedMatching MONDO:0003236 atypical polypoid adenomyoma skos:exactMatch DOID:4993 atypical polypoid adenomyoma semapv:UnspecifiedMatching MONDO:0003236 atypical polypoid adenomyoma skos:exactMatch NCIT:C6895 Atypical Polypoid Adenomyoma semapv:UnspecifiedMatching MONDO:0003236 atypical polypoid adenomyoma skos:exactMatch UMLS:C1300347 semapv:UnspecifiedMatching MONDO:0003237 adenomyoma of uterine corpus skos:exactMatch DOID:4994 adenomyoma of uterine corpus semapv:UnspecifiedMatching MONDO:0003237 adenomyoma of uterine corpus skos:exactMatch NCIT:C6338 Uterine Corpus Adenomyoma semapv:UnspecifiedMatching MONDO:0003237 adenomyoma of uterine corpus skos:exactMatch UMLS:C1336903 semapv:UnspecifiedMatching MONDO:0003238 cervical adenomyoma skos:exactMatch DOID:4995 cervical adenomyoma semapv:UnspecifiedMatching MONDO:0003238 cervical adenomyoma skos:exactMatch NCIT:C40231 Cervical Adenomyoma semapv:UnspecifiedMatching MONDO:0003238 cervical adenomyoma skos:exactMatch UMLS:C1516404 semapv:UnspecifiedMatching MONDO:0003240 thyroid gland disorder skos:exactMatch DOID:50 thyroid gland disease semapv:UnspecifiedMatching MONDO:0003240 thyroid gland disorder skos:exactMatch ICD10CM:E00-E07 Disorders of thyroid gland (E00-E07) semapv:UnspecifiedMatching MONDO:0003240 thyroid gland disorder skos:exactMatch NCIT:C26893 Thyroid Gland Disorder semapv:UnspecifiedMatching MONDO:0003240 thyroid gland disorder skos:exactMatch SCTID:14304000 semapv:UnspecifiedMatching MONDO:0003240 thyroid gland disorder skos:exactMatch UMLS:C4317107 semapv:UnspecifiedMatching MONDO:0003240 thyroid gland disorder skos:exactMatch mesh:D013959 semapv:UnspecifiedMatching MONDO:0003241 central nervous system hemangioma skos:exactMatch DOID:501 central nervous system hemangioma semapv:UnspecifiedMatching MONDO:0003241 central nervous system hemangioma skos:exactMatch NCIT:C7004 Central Nervous System Hemangioma semapv:UnspecifiedMatching MONDO:0003241 central nervous system hemangioma skos:exactMatch UMLS:C1333957 semapv:UnspecifiedMatching MONDO:0003243 hepatocellular clear cell carcinoma skos:exactMatch DOID:5016 hepatocellular clear cell carcinoma semapv:UnspecifiedMatching MONDO:0003243 hepatocellular clear cell carcinoma skos:exactMatch NCIT:C5754 Clear Cell Hepatocellular Carcinoma semapv:UnspecifiedMatching MONDO:0003243 hepatocellular clear cell carcinoma skos:exactMatch UMLS:C1266020 semapv:UnspecifiedMatching MONDO:0003244 central nervous system mesenchymal non-meningothelial tumor skos:exactMatch DOID:502 central nervous system mesenchymal non-meningothelial tumor semapv:UnspecifiedMatching MONDO:0003244 central nervous system mesenchymal non-meningothelial tumor skos:exactMatch NCIT:C5449 Central Nervous System Mesenchymal, Non-Meningothelial Neoplasm semapv:UnspecifiedMatching MONDO:0003244 central nervous system mesenchymal non-meningothelial tumor skos:exactMatch UMLS:C1332893 semapv:UnspecifiedMatching MONDO:0003245 aflatoxin-related hepatocellular carcinoma skos:exactMatch DOID:5022 aflatoxins-related hepatocellular carcinoma semapv:UnspecifiedMatching MONDO:0003245 aflatoxin-related hepatocellular carcinoma skos:exactMatch NCIT:C27922 Aflatoxins-Related Hepatocellular Carcinoma semapv:UnspecifiedMatching MONDO:0003245 aflatoxin-related hepatocellular carcinoma skos:exactMatch UMLS:C1332222 semapv:UnspecifiedMatching MONDO:0003246 sclerosing hepatic carcinoma skos:exactMatch DOID:5026 sclerosing hepatic carcinoma semapv:UnspecifiedMatching MONDO:0003246 sclerosing hepatic carcinoma skos:exactMatch NCIT:C27388 Scirrhous Hepatocellular Carcinoma semapv:UnspecifiedMatching MONDO:0003246 sclerosing hepatic carcinoma skos:exactMatch UMLS:C1266018 semapv:UnspecifiedMatching MONDO:0003248 adult pineal parenchymal tumor skos:exactMatch DOID:5031 adult pineal parenchymal tumor semapv:UnspecifiedMatching MONDO:0003248 adult pineal parenchymal tumor skos:exactMatch NCIT:C8273 Adult Pineal Parenchymal Cell Neoplasm semapv:UnspecifiedMatching MONDO:0003248 adult pineal parenchymal tumor skos:exactMatch UMLS:C0280794 semapv:UnspecifiedMatching MONDO:0003249 pineal gland cancer skos:exactMatch DOID:5032 pineal gland cancer semapv:UnspecifiedMatching MONDO:0003249 pineal gland cancer skos:exactMatch NCIT:C3573 Malignant Pineal Region Neoplasm semapv:UnspecifiedMatching MONDO:0003249 pineal gland cancer skos:exactMatch SCTID:363483004 semapv:UnspecifiedMatching MONDO:0003250 benign granular cell tumor skos:exactMatch DOID:5039 myoblastoma semapv:UnspecifiedMatching MONDO:0003250 benign granular cell tumor skos:exactMatch NCIT:C3252 Benign Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0003250 benign granular cell tumor skos:exactMatch UMLS:C0027043 semapv:UnspecifiedMatching MONDO:0003251 esophageal granular cell tumor skos:exactMatch DOID:5040 malignant granular cell esophageal tumor semapv:UnspecifiedMatching MONDO:0003251 esophageal granular cell tumor skos:exactMatch NCIT:C5700 Esophageal Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0003251 esophageal granular cell tumor skos:exactMatch UMLS:C1333448 semapv:UnspecifiedMatching MONDO:0003252 granular cell cancer skos:exactMatch DOID:5042 malignant granular cell myoblastoma semapv:UnspecifiedMatching MONDO:0003252 granular cell cancer skos:exactMatch NCIT:C4336 Malignant Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0003252 granular cell cancer skos:exactMatch SCTID:404041003 semapv:UnspecifiedMatching MONDO:0003252 granular cell cancer skos:exactMatch UMLS:C0334618 semapv:UnspecifiedMatching MONDO:0003253 vulvar granular cell tumor skos:exactMatch DOID:5043 vulvar granular cell tumor semapv:UnspecifiedMatching MONDO:0003253 vulvar granular cell tumor skos:exactMatch NCIT:C40328 Vulvar Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0003253 vulvar granular cell tumor skos:exactMatch UMLS:C1520083 semapv:UnspecifiedMatching MONDO:0003254 cardiac granular cell neoplasm skos:exactMatch DOID:5044 cardiac granular cell neoplasm semapv:UnspecifiedMatching MONDO:0003254 cardiac granular cell neoplasm skos:exactMatch NCIT:C5360 Cardiac Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0003254 cardiac granular cell neoplasm skos:exactMatch UMLS:C1332845 semapv:UnspecifiedMatching MONDO:0003255 mediastinal granular cell myoblastoma skos:exactMatch DOID:5046 mediastinal granular cell myoblastoma semapv:UnspecifiedMatching MONDO:0003255 mediastinal granular cell myoblastoma skos:exactMatch NCIT:C6601 Mediastinal Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0003255 mediastinal granular cell myoblastoma skos:exactMatch UMLS:C1334656 semapv:UnspecifiedMatching MONDO:0003256 neurohypophysis granular cell tumor skos:exactMatch DOID:5047 granular cell tumor of the sellar region semapv:UnspecifiedMatching MONDO:0003256 neurohypophysis granular cell tumor skos:exactMatch NCIT:C7017 Granular Cell Tumor of the Sellar Region semapv:UnspecifiedMatching MONDO:0003256 neurohypophysis granular cell tumor skos:exactMatch SCTID:699331002 semapv:UnspecifiedMatching MONDO:0003256 neurohypophysis granular cell tumor skos:exactMatch UMLS:C1333873 semapv:UnspecifiedMatching MONDO:0003257 posterior pituitary gland neoplasm skos:exactMatch DOID:5048 posterior pituitary gland neoplasm semapv:UnspecifiedMatching MONDO:0003257 posterior pituitary gland neoplasm skos:exactMatch NCIT:C7157 Posterior Pituitary Gland Neoplasm semapv:UnspecifiedMatching MONDO:0003257 posterior pituitary gland neoplasm skos:exactMatch UMLS:C1334957 semapv:UnspecifiedMatching MONDO:0003258 hobnail hemangioma skos:exactMatch DOID:505 hobnail hemangioma semapv:UnspecifiedMatching MONDO:0003258 hobnail hemangioma skos:exactMatch NCIT:C27506 Hobnail Hemangioma semapv:UnspecifiedMatching MONDO:0003258 hobnail hemangioma skos:exactMatch SCTID:254790003 semapv:UnspecifiedMatching MONDO:0003258 hobnail hemangioma skos:exactMatch UMLS:C0346076 semapv:UnspecifiedMatching MONDO:0003260 adult cerebellar neoplasm skos:exactMatch DOID:5056 adult cerebellar neoplasm semapv:UnspecifiedMatching MONDO:0003260 adult cerebellar neoplasm skos:exactMatch NCIT:C5968 Adult Cerebellar Neoplasm semapv:UnspecifiedMatching MONDO:0003260 adult cerebellar neoplasm skos:exactMatch UMLS:C1332197 semapv:UnspecifiedMatching MONDO:0003261 papillary meningioma of the cerebellum skos:exactMatch DOID:5057 papillary meningioma of the cerebellum semapv:UnspecifiedMatching MONDO:0003261 papillary meningioma of the cerebellum skos:exactMatch NCIT:C5270 Cerebellar Papillary Meningioma semapv:UnspecifiedMatching MONDO:0003261 papillary meningioma of the cerebellum skos:exactMatch UMLS:C1332902 semapv:UnspecifiedMatching MONDO:0003262 rhabdoid meningioma skos:exactMatch DOID:5058 rhabdoid meningioma semapv:UnspecifiedMatching MONDO:0003262 rhabdoid meningioma skos:exactMatch NCIT:C6909 Rhabdoid Meningioma semapv:UnspecifiedMatching MONDO:0003262 rhabdoid meningioma skos:exactMatch UMLS:C0259786 semapv:UnspecifiedMatching MONDO:0003263 childhood cerebellar neoplasm skos:exactMatch DOID:5059 childhood cerebellar neoplasm semapv:UnspecifiedMatching MONDO:0003263 childhood cerebellar neoplasm skos:exactMatch NCIT:C5970 Childhood Cerebellar Neoplasm semapv:UnspecifiedMatching MONDO:0003263 childhood cerebellar neoplasm skos:exactMatch UMLS:C1332959 semapv:UnspecifiedMatching MONDO:0003264 basosquamous carcinoma skos:exactMatch DOID:5063 basosquamous carcinoma semapv:UnspecifiedMatching MONDO:0003264 basosquamous carcinoma skos:exactMatch NCIT:C2922 Skin Basosquamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003264 basosquamous carcinoma skos:exactMatch UMLS:C0007118 semapv:UnspecifiedMatching MONDO:0003264 basosquamous carcinoma skos:exactMatch mesh:D002281 semapv:UnspecifiedMatching MONDO:0003265 adjustment disorder skos:exactMatch DOID:507 adjustment disorder semapv:UnspecifiedMatching MONDO:0003265 adjustment disorder skos:exactMatch NCIT:C92191 Adjustment Disorder semapv:UnspecifiedMatching MONDO:0003265 adjustment disorder skos:exactMatch SCTID:17226007 semapv:UnspecifiedMatching MONDO:0003265 adjustment disorder skos:exactMatch mesh:D000275 semapv:UnspecifiedMatching MONDO:0003266 ependymal tumor skos:exactMatch NCIT:C6770 Ependymal Tumor semapv:UnspecifiedMatching MONDO:0003266 ependymal tumor skos:exactMatch Orphanet:301 Ependymal tumor semapv:UnspecifiedMatching MONDO:0003266 ependymal tumor skos:exactMatch UMLS:C1333407 semapv:UnspecifiedMatching MONDO:0003268 mixed glioma skos:exactMatch DOID:5076 mixed glioma semapv:UnspecifiedMatching MONDO:0003268 mixed glioma skos:exactMatch NCIT:C3903 Mixed Glioma semapv:UnspecifiedMatching MONDO:0003268 mixed glioma skos:exactMatch SCTID:443937008 semapv:UnspecifiedMatching MONDO:0003268 mixed glioma skos:exactMatch UMLS:C0259783 semapv:UnspecifiedMatching MONDO:0003271 iodine hypothyroidism skos:exactMatch DOID:5083 iodine hypothyroidism semapv:UnspecifiedMatching MONDO:0003271 iodine hypothyroidism skos:exactMatch SCTID:190279008 semapv:UnspecifiedMatching MONDO:0003271 iodine hypothyroidism skos:exactMatch UMLS:C0154159 semapv:UnspecifiedMatching MONDO:0003272 mixed epithelial stromal tumor skos:exactMatch DOID:5088 mixed epithelial stromal tumour semapv:UnspecifiedMatching MONDO:0003273 sternum cancer skos:exactMatch DOID:5090 sternum cancer semapv:UnspecifiedMatching MONDO:0003273 sternum cancer skos:exactMatch NCIT:C8408 Malignant Sternal Neoplasm semapv:UnspecifiedMatching MONDO:0003273 sternum cancer skos:exactMatch UMLS:C1382025 semapv:UnspecifiedMatching MONDO:0003274 thoracic cancer skos:exactMatch DOID:5093 thoracic cancer semapv:UnspecifiedMatching MONDO:0003274 thoracic cancer skos:exactMatch NCIT:C3576 Malignant Thoracic Neoplasm semapv:UnspecifiedMatching MONDO:0003274 thoracic cancer skos:exactMatch SCTID:188361007 semapv:UnspecifiedMatching MONDO:0003274 thoracic cancer skos:exactMatch UMLS:C0153661 semapv:UnspecifiedMatching MONDO:0003275 middle ear cancer skos:exactMatch DOID:5099 middle ear cancer semapv:UnspecifiedMatching MONDO:0003275 middle ear cancer skos:exactMatch NCIT:C4765 Malignant Middle Ear Neoplasm semapv:UnspecifiedMatching MONDO:0003275 middle ear cancer skos:exactMatch SCTID:363359008 semapv:UnspecifiedMatching MONDO:0003276 middle ear disorder skos:exactMatch DOID:5100 middle ear disease semapv:UnspecifiedMatching MONDO:0003276 middle ear disorder skos:exactMatch ICD10CM:H65-H75 Diseases of middle ear and mastoid (H65-H75) semapv:UnspecifiedMatching MONDO:0003276 middle ear disorder skos:exactMatch NCIT:C27065 Middle Ear Disorder semapv:UnspecifiedMatching MONDO:0003276 middle ear disorder skos:exactMatch SCTID:68996008 semapv:UnspecifiedMatching MONDO:0003276 middle ear disorder skos:exactMatch UMLS:C0271428 semapv:UnspecifiedMatching MONDO:0003277 malignant ear neoplasm skos:exactMatch DOID:5101 ear cancer semapv:UnspecifiedMatching MONDO:0003277 malignant ear neoplasm skos:exactMatch NCIT:C9337 Malignant Ear Neoplasm semapv:UnspecifiedMatching MONDO:0003277 malignant ear neoplasm skos:exactMatch SCTID:443648003 semapv:UnspecifiedMatching MONDO:0003277 malignant ear neoplasm skos:exactMatch UMLS:C2350059 semapv:UnspecifiedMatching MONDO:0003277 malignant ear neoplasm skos:exactMatch mesh:D004428 semapv:UnspecifiedMatching MONDO:0003278 inner ear cancer skos:exactMatch DOID:5102 inner ear cancer semapv:UnspecifiedMatching MONDO:0003279 testicular infarct skos:exactMatch DOID:5104 testicular infarct semapv:UnspecifiedMatching MONDO:0003279 testicular infarct skos:exactMatch NCIT:C27617 Testicular Infarction semapv:UnspecifiedMatching MONDO:0003279 testicular infarct skos:exactMatch SCTID:33793000 semapv:UnspecifiedMatching MONDO:0003279 testicular infarct skos:exactMatch UMLS:C0392041 semapv:UnspecifiedMatching MONDO:0003280 swayback skos:exactMatch DOID:5112 copper deficiency myelopathy semapv:UnspecifiedMatching MONDO:0003280 swayback skos:exactMatch SCTID:61960001 semapv:UnspecifiedMatching MONDO:0003280 swayback skos:exactMatch mesh:D013540 semapv:UnspecifiedMatching MONDO:0003281 ovarian cystic teratoma skos:exactMatch DOID:5118 ovarian cystic teratoma semapv:UnspecifiedMatching MONDO:0003281 ovarian cystic teratoma skos:exactMatch NCIT:C7283 Ovarian Cystic Teratoma semapv:UnspecifiedMatching MONDO:0003281 ovarian cystic teratoma skos:exactMatch UMLS:C1335155 semapv:UnspecifiedMatching MONDO:0003282 ovarian cyst skos:exactMatch DOID:5119 ovarian cyst semapv:UnspecifiedMatching MONDO:0003282 ovarian cyst skos:exactMatch SCTID:79883001 semapv:UnspecifiedMatching MONDO:0003282 ovarian cyst skos:exactMatch mesh:D010048 semapv:UnspecifiedMatching MONDO:0003283 epididymal neoplasm skos:exactMatch DOID:512 epididymal neoplasm semapv:UnspecifiedMatching MONDO:0003283 epididymal neoplasm skos:exactMatch NCIT:C39958 Epididymal Neoplasm semapv:UnspecifiedMatching MONDO:0003283 epididymal neoplasm skos:exactMatch SCTID:126902008 semapv:UnspecifiedMatching MONDO:0003283 epididymal neoplasm skos:exactMatch UMLS:C0346239 semapv:UnspecifiedMatching MONDO:0003284 mediastinum leiomyoma skos:exactMatch DOID:5123 mediastinum leiomyoma semapv:UnspecifiedMatching MONDO:0003284 mediastinum leiomyoma skos:exactMatch NCIT:C6598 Mediastinal Leiomyoma semapv:UnspecifiedMatching MONDO:0003284 mediastinum leiomyoma skos:exactMatch UMLS:C1334659 semapv:UnspecifiedMatching MONDO:0003285 fallopian tube leiomyoma skos:exactMatch DOID:5124 fallopian tube leiomyoma semapv:UnspecifiedMatching MONDO:0003285 fallopian tube leiomyoma skos:exactMatch NCIT:C40127 Fallopian Tube Leiomyoma semapv:UnspecifiedMatching MONDO:0003285 fallopian tube leiomyoma skos:exactMatch UMLS:C1517115 semapv:UnspecifiedMatching MONDO:0003286 extrahepatic bile duct leiomyoma skos:exactMatch DOID:5125 extrahepatic bile duct leiomyoma semapv:UnspecifiedMatching MONDO:0003286 extrahepatic bile duct leiomyoma skos:exactMatch NCIT:C5855 Extrahepatic Bile Duct Leiomyoma semapv:UnspecifiedMatching MONDO:0003286 extrahepatic bile duct leiomyoma skos:exactMatch UMLS:C1333507 semapv:UnspecifiedMatching MONDO:0003287 central nervous system leiomyoma skos:exactMatch DOID:5126 central nervous system leiomyoma semapv:UnspecifiedMatching MONDO:0003287 central nervous system leiomyoma skos:exactMatch NCIT:C6998 Central Nervous System Leiomyoma semapv:UnspecifiedMatching MONDO:0003287 central nervous system leiomyoma skos:exactMatch UMLS:C1334382 semapv:UnspecifiedMatching MONDO:0003288 bizarre leiomyoma skos:exactMatch DOID:5127 bizarre leiomyoma semapv:UnspecifiedMatching MONDO:0003288 bizarre leiomyoma skos:exactMatch NCIT:C4257 Bizarre Leiomyoma semapv:UnspecifiedMatching MONDO:0003288 bizarre leiomyoma skos:exactMatch UMLS:C0334478 semapv:UnspecifiedMatching MONDO:0003289 deep leiomyoma skos:exactMatch DOID:5128 deep leiomyoma semapv:UnspecifiedMatching MONDO:0003289 deep leiomyoma skos:exactMatch NCIT:C6512 Deep Leiomyoma semapv:UnspecifiedMatching MONDO:0003289 deep leiomyoma skos:exactMatch UMLS:C1333266 semapv:UnspecifiedMatching MONDO:0003290 simple partial epilepsy skos:exactMatch DOID:5129 simple partial epilepsy semapv:UnspecifiedMatching MONDO:0003291 leiomyoma cutis skos:exactMatch DOID:5132 leiomyoma cutis semapv:UnspecifiedMatching MONDO:0003291 leiomyoma cutis skos:exactMatch NCIT:C4482 Skin Leiomyoma semapv:UnspecifiedMatching MONDO:0003291 leiomyoma cutis skos:exactMatch SCTID:254767008 semapv:UnspecifiedMatching MONDO:0003291 leiomyoma cutis skos:exactMatch UMLS:C0346064 semapv:UnspecifiedMatching MONDO:0003292 anus leiomyoma skos:exactMatch DOID:5134 anus leiomyoma semapv:UnspecifiedMatching MONDO:0003292 anus leiomyoma skos:exactMatch NCIT:C5608 Anal Leiomyoma semapv:UnspecifiedMatching MONDO:0003292 anus leiomyoma skos:exactMatch UMLS:C1332266 semapv:UnspecifiedMatching MONDO:0003293 lung leiomyoma skos:exactMatch DOID:5136 lung leiomyoma semapv:UnspecifiedMatching MONDO:0003293 lung leiomyoma skos:exactMatch NCIT:C5660 Lung Leiomyoma semapv:UnspecifiedMatching MONDO:0003293 lung leiomyoma skos:exactMatch SCTID:707374005 semapv:UnspecifiedMatching MONDO:0003293 lung leiomyoma skos:exactMatch UMLS:C1334447 semapv:UnspecifiedMatching MONDO:0003294 pericardium leiomyoma skos:exactMatch DOID:5137 pericardium leiomyoma semapv:UnspecifiedMatching MONDO:0003294 pericardium leiomyoma skos:exactMatch NCIT:C6743 Pericardial Leiomyoma semapv:UnspecifiedMatching MONDO:0003294 pericardium leiomyoma skos:exactMatch UMLS:C1335380 semapv:UnspecifiedMatching MONDO:0003295 leiomyomatosis skos:exactMatch DOID:5138 leiomyomatosis semapv:UnspecifiedMatching MONDO:0003295 leiomyomatosis skos:exactMatch NCIT:C3748 Leiomyomatosis semapv:UnspecifiedMatching MONDO:0003295 leiomyomatosis skos:exactMatch UMLS:C0206654 semapv:UnspecifiedMatching MONDO:0003295 leiomyomatosis skos:exactMatch mesh:D018231 semapv:UnspecifiedMatching MONDO:0003296 cellular leiomyoma skos:exactMatch DOID:5139 cellular leiomyoma semapv:UnspecifiedMatching MONDO:0003296 cellular leiomyoma skos:exactMatch NCIT:C4256 Cellular Leiomyoma semapv:UnspecifiedMatching MONDO:0003296 cellular leiomyoma skos:exactMatch UMLS:C0334477 semapv:UnspecifiedMatching MONDO:0003297 gallbladder leiomyoma skos:exactMatch DOID:5140 gallbladder leiomyoma semapv:UnspecifiedMatching MONDO:0003297 gallbladder leiomyoma skos:exactMatch NCIT:C5747 Gallbladder Leiomyoma semapv:UnspecifiedMatching MONDO:0003297 gallbladder leiomyoma skos:exactMatch UMLS:C1333745 semapv:UnspecifiedMatching MONDO:0003298 vulvar leiomyoma skos:exactMatch DOID:5142 vulvar leiomyoma semapv:UnspecifiedMatching MONDO:0003298 vulvar leiomyoma skos:exactMatch NCIT:C40326 Vulvar Leiomyoma semapv:UnspecifiedMatching MONDO:0003298 vulvar leiomyoma skos:exactMatch UMLS:C1520087 semapv:UnspecifiedMatching MONDO:0003299 colorectal leiomyoma skos:exactMatch DOID:5143 large bowel leiomyoma semapv:UnspecifiedMatching MONDO:0003299 colorectal leiomyoma skos:exactMatch NCIT:C5677 Colorectal Leiomyoma semapv:UnspecifiedMatching MONDO:0003299 colorectal leiomyoma skos:exactMatch UMLS:C1333113 semapv:UnspecifiedMatching MONDO:0003300 appendix leiomyoma skos:exactMatch DOID:5146 appendix leiomyoma semapv:UnspecifiedMatching MONDO:0003300 appendix leiomyoma skos:exactMatch NCIT:C5514 Appendix Leiomyoma semapv:UnspecifiedMatching MONDO:0003300 appendix leiomyoma skos:exactMatch UMLS:C1332327 semapv:UnspecifiedMatching MONDO:0003301 dartoic leiomyoma skos:exactMatch DOID:5147 dartoic leiomyoma semapv:UnspecifiedMatching MONDO:0003301 dartoic leiomyoma skos:exactMatch NCIT:C4483 Dartoic Leiomyoma semapv:UnspecifiedMatching MONDO:0003301 dartoic leiomyoma skos:exactMatch SCTID:254770007 semapv:UnspecifiedMatching MONDO:0003301 dartoic leiomyoma skos:exactMatch UMLS:C0346066 semapv:UnspecifiedMatching MONDO:0003302 epithelioid neurofibroma skos:exactMatch DOID:5149 epithelioid neurofibroma semapv:UnspecifiedMatching MONDO:0003302 epithelioid neurofibroma skos:exactMatch NCIT:C6558 Epithelioid Neurofibroma semapv:UnspecifiedMatching MONDO:0003302 epithelioid neurofibroma skos:exactMatch SCTID:404032008 semapv:UnspecifiedMatching MONDO:0003302 epithelioid neurofibroma skos:exactMatch UMLS:C1275264 semapv:UnspecifiedMatching MONDO:0003303 neurofibroma of gallbladder skos:exactMatch DOID:5150 neurofibroma of gallbladder semapv:UnspecifiedMatching MONDO:0003303 neurofibroma of gallbladder skos:exactMatch NCIT:C5746 Gallbladder Neurofibroma semapv:UnspecifiedMatching MONDO:0003303 neurofibroma of gallbladder skos:exactMatch UMLS:C1333751 semapv:UnspecifiedMatching MONDO:0003304 plexiform neurofibroma skos:exactMatch DOID:5151 plexiform neurofibroma semapv:UnspecifiedMatching MONDO:0003304 plexiform neurofibroma skos:exactMatch NCIT:C3797 Plexiform Neurofibroma semapv:UnspecifiedMatching MONDO:0003304 plexiform neurofibroma skos:exactMatch SCTID:403818001 semapv:UnspecifiedMatching MONDO:0003304 plexiform neurofibroma skos:exactMatch UMLS:C0206728 semapv:UnspecifiedMatching MONDO:0003304 plexiform neurofibroma skos:exactMatch mesh:D018318 semapv:UnspecifiedMatching MONDO:0003305 cellular neurofibroma skos:exactMatch DOID:5152 cellular neurofibroma semapv:UnspecifiedMatching MONDO:0003305 cellular neurofibroma skos:exactMatch NCIT:C41427 Cellular Neurofibroma semapv:UnspecifiedMatching MONDO:0003305 cellular neurofibroma skos:exactMatch UMLS:C1516371 semapv:UnspecifiedMatching MONDO:0003306 atypical neurofibroma skos:exactMatch DOID:5153 atypical neurofibroma semapv:UnspecifiedMatching MONDO:0003306 atypical neurofibroma skos:exactMatch NCIT:C41426 Neurofibroma with Atypia semapv:UnspecifiedMatching MONDO:0003306 atypical neurofibroma skos:exactMatch UMLS:C1510961 semapv:UnspecifiedMatching MONDO:0003307 multiple mucosal neuroma skos:exactMatch DOID:5155 multiple mucosal neuroma semapv:UnspecifiedMatching MONDO:0003307 multiple mucosal neuroma skos:exactMatch NCIT:C6559 Multiple Mucosal Neuromas semapv:UnspecifiedMatching MONDO:0003307 multiple mucosal neuroma skos:exactMatch UMLS:C1334828 semapv:UnspecifiedMatching MONDO:0003308 pleural mesothelioma skos:exactMatch DOID:5157 benign pleural mesothelioma semapv:UnspecifiedMatching MONDO:0003308 pleural mesothelioma skos:exactMatch NCIT:C9351 Pleural Mesothelial Neoplasm semapv:UnspecifiedMatching MONDO:0003308 pleural mesothelioma skos:exactMatch SCTID:109372009 semapv:UnspecifiedMatching MONDO:0003310 Monckeberg arteriosclerosis skos:exactMatch DOID:5161 Monckeberg arteriosclerosis semapv:UnspecifiedMatching MONDO:0003310 Monckeberg arteriosclerosis skos:exactMatch NCIT:C35770 Monckeberg Arteriosclerosis semapv:UnspecifiedMatching MONDO:0003310 Monckeberg arteriosclerosis skos:exactMatch UMLS:C0887866 semapv:UnspecifiedMatching MONDO:0003311 endometrial stromal tumor skos:exactMatch DOID:5166 endometrial stromal tumor semapv:UnspecifiedMatching MONDO:0003311 endometrial stromal tumor skos:exactMatch SCTID:446887007 semapv:UnspecifiedMatching MONDO:0003311 endometrial stromal tumor skos:exactMatch UMLS:C0334695 semapv:UnspecifiedMatching MONDO:0003311 endometrial stromal tumor skos:exactMatch mesh:D036821 semapv:UnspecifiedMatching MONDO:0003312 ovarian endometrioid stromal and related neoplasms skos:exactMatch DOID:5169 ovarian endometrioid stromal sarcoma semapv:UnspecifiedMatching MONDO:0003312 ovarian endometrioid stromal and related neoplasms skos:exactMatch NCIT:C40065 Ovarian Endometrioid Stromal and Related Neoplasms semapv:UnspecifiedMatching MONDO:0003312 ovarian endometrioid stromal and related neoplasms skos:exactMatch UMLS:C4288544 semapv:UnspecifiedMatching MONDO:0003313 endometrioid stromal sarcoma of the vagina skos:exactMatch DOID:5170 vaginal endometrial stromal sarcoma semapv:UnspecifiedMatching MONDO:0003313 endometrioid stromal sarcoma of the vagina skos:exactMatch NCIT:C40270 Endometrioid Stromal Sarcoma of the Vagina semapv:UnspecifiedMatching MONDO:0003313 endometrioid stromal sarcoma of the vagina skos:exactMatch UMLS:C3642329 semapv:UnspecifiedMatching MONDO:0003314 endometrioid stromal and related neoplasms of the vagina skos:exactMatch DOID:5171 vaginal endometrial stromal tumor semapv:UnspecifiedMatching MONDO:0003314 endometrioid stromal and related neoplasms of the vagina skos:exactMatch NCIT:C40269 Vaginal Endometrioid Stromal and Related Neoplasms semapv:UnspecifiedMatching MONDO:0003314 endometrioid stromal and related neoplasms of the vagina skos:exactMatch UMLS:C4289585 semapv:UnspecifiedMatching MONDO:0003315 endometrium carcinoma in situ skos:exactMatch DOID:5172 endometrium carcinoma in situ semapv:UnspecifiedMatching MONDO:0003315 endometrium carcinoma in situ skos:exactMatch ICD10CM:D07.0 Carcinoma in situ of endometrium semapv:UnspecifiedMatching MONDO:0003315 endometrium carcinoma in situ skos:exactMatch SCTID:92582009 semapv:UnspecifiedMatching MONDO:0003315 endometrium carcinoma in situ skos:exactMatch UMLS:C0346191 semapv:UnspecifiedMatching MONDO:0003316 nonanaplastic kidney Wilms tumor skos:exactMatch NCIT:C6951 Nonanaplastic Kidney Wilms Tumor semapv:UnspecifiedMatching MONDO:0003316 nonanaplastic kidney Wilms tumor skos:exactMatch UMLS:C1335062 semapv:UnspecifiedMatching MONDO:0003317 metachronous kidney Wilms' tumor skos:exactMatch DOID:5178 metachronous kidney Wilms' tumor semapv:UnspecifiedMatching MONDO:0003317 metachronous kidney Wilms' tumor skos:exactMatch NCIT:C38158 Metachronous Kidney Wilms Tumor semapv:UnspecifiedMatching MONDO:0003317 metachronous kidney Wilms' tumor skos:exactMatch UMLS:C1334705 semapv:UnspecifiedMatching MONDO:0003318 mixed cell type kidney Wilms' tumor skos:exactMatch DOID:5179 mixed cell type kidney Wilms' tumor semapv:UnspecifiedMatching MONDO:0003318 mixed cell type kidney Wilms' tumor skos:exactMatch NCIT:C9149 Mixed Cell Type Kidney Wilms Tumor semapv:UnspecifiedMatching MONDO:0003318 mixed cell type kidney Wilms' tumor skos:exactMatch UMLS:C0279611 semapv:UnspecifiedMatching MONDO:0003319 scrotum neoplasm skos:exactMatch DOID:518 scrotum neoplasm semapv:UnspecifiedMatching MONDO:0003319 scrotum neoplasm skos:exactMatch NCIT:C4380 Scrotal Neoplasm semapv:UnspecifiedMatching MONDO:0003319 scrotum neoplasm skos:exactMatch SCTID:126905005 semapv:UnspecifiedMatching MONDO:0003319 scrotum neoplasm skos:exactMatch UMLS:C0341790 semapv:UnspecifiedMatching MONDO:0003320 blastema predominant kidney Wilms tumor skos:exactMatch DOID:5182 blastema predominant kidney Wilms' tumor semapv:UnspecifiedMatching MONDO:0003320 blastema predominant kidney Wilms tumor skos:exactMatch NCIT:C9147 Blastema Predominant Kidney Wilms Tumor semapv:UnspecifiedMatching MONDO:0003320 blastema predominant kidney Wilms tumor skos:exactMatch UMLS:C0279609 semapv:UnspecifiedMatching MONDO:0003321 hereditary Wilms tumor skos:exactMatch DOID:5183 hereditary Wilms' tumor semapv:UnspecifiedMatching MONDO:0003321 hereditary Wilms tumor skos:exactMatch NCIT:C8496 Hereditary Kidney Wilms Tumor semapv:UnspecifiedMatching MONDO:0003321 hereditary Wilms tumor skos:exactMatch OMIMPS:194070 semapv:UnspecifiedMatching MONDO:0003321 hereditary Wilms tumor skos:exactMatch UMLS:C0677779 semapv:UnspecifiedMatching MONDO:0003322 epithelial predominant Wilms' tumor skos:exactMatch DOID:5189 epithelial predominant Wilms' tumor semapv:UnspecifiedMatching MONDO:0003322 epithelial predominant Wilms' tumor skos:exactMatch NCIT:C9146 Epithelial Predominant Kidney Wilms Tumor semapv:UnspecifiedMatching MONDO:0003322 epithelial predominant Wilms' tumor skos:exactMatch UMLS:C0279608 semapv:UnspecifiedMatching MONDO:0003325 nodular ganglioneuroblastoma skos:exactMatch DOID:5193 nodular ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0003325 nodular ganglioneuroblastoma skos:exactMatch NCIT:C42058 Ganglioneuroblastoma, Nodular semapv:UnspecifiedMatching MONDO:0003325 nodular ganglioneuroblastoma skos:exactMatch UMLS:C1517445 semapv:UnspecifiedMatching MONDO:0003326 intermixed schwannian stroma-rich ganglioneuroblastoma skos:exactMatch DOID:5194 intermixed schwannian stroma-rich ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0003326 intermixed schwannian stroma-rich ganglioneuroblastoma skos:exactMatch NCIT:C42057 Ganglioneuroblastoma, Intermixed semapv:UnspecifiedMatching MONDO:0003326 intermixed schwannian stroma-rich ganglioneuroblastoma skos:exactMatch UMLS:C1517444 semapv:UnspecifiedMatching MONDO:0003327 peripheral ganglioneuroblastoma skos:exactMatch DOID:5195 peripheral nervous system ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0003327 peripheral ganglioneuroblastoma skos:exactMatch NCIT:C6594 Peripheral Ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0003327 peripheral ganglioneuroblastoma skos:exactMatch UMLS:C1335387 semapv:UnspecifiedMatching MONDO:0003328 fallopian tube adenomatoid tumor skos:exactMatch DOID:5196 fallopian tube adenomatoid tumor semapv:UnspecifiedMatching MONDO:0003328 fallopian tube adenomatoid tumor skos:exactMatch NCIT:C40129 Fallopian Tube Adenomatoid Tumor semapv:UnspecifiedMatching MONDO:0003328 fallopian tube adenomatoid tumor skos:exactMatch UMLS:C1517110 semapv:UnspecifiedMatching MONDO:0003329 ureteral obstruction skos:exactMatch DOID:5199 ureteral obstruction semapv:UnspecifiedMatching MONDO:0003329 ureteral obstruction skos:exactMatch SCTID:20018005 semapv:UnspecifiedMatching MONDO:0003329 ureteral obstruction skos:exactMatch mesh:D014517 semapv:UnspecifiedMatching MONDO:0003330 urinary tract obstruction skos:exactMatch DOID:5200 urinary tract obstruction semapv:UnspecifiedMatching MONDO:0003330 urinary tract obstruction skos:exactMatch NCIT:C3675 Obstructive Uropathy semapv:UnspecifiedMatching MONDO:0003330 urinary tract obstruction skos:exactMatch SCTID:7163005 semapv:UnspecifiedMatching MONDO:0003330 urinary tract obstruction skos:exactMatch UMLS:C0178879 semapv:UnspecifiedMatching MONDO:0003331 ovarian monodermal teratoma skos:exactMatch DOID:5207 monodermal teratoma semapv:UnspecifiedMatching MONDO:0003331 ovarian monodermal teratoma skos:exactMatch NCIT:C7286 Ovarian Monodermal Teratoma semapv:UnspecifiedMatching MONDO:0003331 ovarian monodermal teratoma skos:exactMatch UMLS:C1302569 semapv:UnspecifiedMatching MONDO:0003332 malignant struma ovarii skos:exactMatch DOID:5208 malignant struma ovarii semapv:UnspecifiedMatching MONDO:0003332 malignant struma ovarii skos:exactMatch NCIT:C4291 Thyroid Carcinoma Arising in Struma Ovarii semapv:UnspecifiedMatching MONDO:0003332 malignant struma ovarii skos:exactMatch UMLS:C0334525 semapv:UnspecifiedMatching MONDO:0003333 benign struma ovarii skos:exactMatch DOID:5209 obsolete benign struma ovarii semapv:UnspecifiedMatching MONDO:0003334 demyelinating polyneuropathy skos:exactMatch DOID:5214 demyelinating polyneuropathy semapv:UnspecifiedMatching MONDO:0003334 demyelinating polyneuropathy skos:exactMatch NCIT:C27062 Demyelinating Polyneuropathy semapv:UnspecifiedMatching MONDO:0003334 demyelinating polyneuropathy skos:exactMatch SCTID:23414001 semapv:UnspecifiedMatching MONDO:0003334 demyelinating polyneuropathy skos:exactMatch UMLS:C0270922 semapv:UnspecifiedMatching MONDO:0003335 chronic polyneuropathy skos:exactMatch DOID:5221 chronic polyneuropathy semapv:UnspecifiedMatching MONDO:0003335 chronic polyneuropathy skos:exactMatch NCIT:C36071 Chronic Polyneuropathy semapv:UnspecifiedMatching MONDO:0003335 chronic polyneuropathy skos:exactMatch UMLS:C1167650 semapv:UnspecifiedMatching MONDO:0003336 acute necrotizing encephalitis skos:exactMatch DOID:5222 acute necrotizing encephalitis semapv:UnspecifiedMatching MONDO:0003336 acute necrotizing encephalitis skos:exactMatch NCIT:C35383 Acute Necrotizing Encephalitis semapv:UnspecifiedMatching MONDO:0003336 acute necrotizing encephalitis skos:exactMatch SCTID:111897007 semapv:UnspecifiedMatching MONDO:0003336 acute necrotizing encephalitis skos:exactMatch UMLS:C0338418 semapv:UnspecifiedMatching MONDO:0003337 acute hemorrhagic encephalitis skos:exactMatch DOID:5224 acute hemorrhagic encephalitis semapv:UnspecifiedMatching MONDO:0003337 acute hemorrhagic encephalitis skos:exactMatch NCIT:C35796 Acute Hemorrhagic Encephalitis semapv:UnspecifiedMatching MONDO:0003337 acute hemorrhagic encephalitis skos:exactMatch UMLS:C1332149 semapv:UnspecifiedMatching MONDO:0003340 malignant glomus tumor skos:exactMatch DOID:5233 glomangiosarcoma semapv:UnspecifiedMatching MONDO:0003340 malignant glomus tumor skos:exactMatch NCIT:C4221 Malignant Glomus Tumor semapv:UnspecifiedMatching MONDO:0003340 malignant glomus tumor skos:exactMatch UMLS:C1266111 semapv:UnspecifiedMatching MONDO:0003341 subungual glomus tumor skos:exactMatch DOID:5236 subungual glomus tumor semapv:UnspecifiedMatching MONDO:0003341 subungual glomus tumor skos:exactMatch NCIT:C36079 Subungual Glomus Tumor semapv:UnspecifiedMatching MONDO:0003341 subungual glomus tumor skos:exactMatch SCTID:403973004 semapv:UnspecifiedMatching MONDO:0003341 subungual glomus tumor skos:exactMatch UMLS:C1304510 semapv:UnspecifiedMatching MONDO:0003342 benign perivascular tumor skos:exactMatch DOID:5238 benign perivascular tumor semapv:UnspecifiedMatching MONDO:0003342 benign perivascular tumor skos:exactMatch NCIT:C6529 Benign Pericytic Neoplasm semapv:UnspecifiedMatching MONDO:0003342 benign perivascular tumor skos:exactMatch UMLS:C1332532 semapv:UnspecifiedMatching MONDO:0003343 retinal hemangioblastoma skos:exactMatch DOID:5240 retinal hemangioblastoma semapv:UnspecifiedMatching MONDO:0003343 retinal hemangioblastoma skos:exactMatch NCIT:C39783 Retinal Hemangioblastoma semapv:UnspecifiedMatching MONDO:0003343 retinal hemangioblastoma skos:exactMatch UMLS:C0730303 semapv:UnspecifiedMatching MONDO:0003345 hilar cholangiocarcinoma skos:exactMatch DOID:4927 Klatskin's tumor semapv:UnspecifiedMatching MONDO:0003345 hilar cholangiocarcinoma skos:exactMatch NCIT:C36077 Hilar Cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0003345 hilar cholangiocarcinoma skos:exactMatch Orphanet:99978 Klatskin tumor semapv:UnspecifiedMatching MONDO:0003345 hilar cholangiocarcinoma skos:exactMatch SCTID:253017000 semapv:UnspecifiedMatching MONDO:0003345 hilar cholangiocarcinoma skos:exactMatch UMLS:C0206702 semapv:UnspecifiedMatching MONDO:0003345 hilar cholangiocarcinoma skos:exactMatch mesh:D018285 semapv:UnspecifiedMatching MONDO:0003346 central nervous system vasculitis skos:exactMatch DOID:525 central nervous system vasculitis semapv:UnspecifiedMatching MONDO:0003346 central nervous system vasculitis skos:exactMatch NCIT:C84622 Central Nervous System Vasculitis semapv:UnspecifiedMatching MONDO:0003346 central nervous system vasculitis skos:exactMatch UMLS:C0751878 semapv:UnspecifiedMatching MONDO:0003346 central nervous system vasculitis skos:exactMatch mesh:D020293 semapv:UnspecifiedMatching MONDO:0003347 inflammatory leiomyosarcoma skos:exactMatch DOID:5251 inflammatory leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003347 inflammatory leiomyosarcoma skos:exactMatch NCIT:C27495 Inflammatory Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003347 inflammatory leiomyosarcoma skos:exactMatch UMLS:C1334179 semapv:UnspecifiedMatching MONDO:0003348 conventional leiomyosarcoma skos:exactMatch DOID:5253 conventional leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003348 conventional leiomyosarcoma skos:exactMatch NCIT:C9428 Conventional Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003348 conventional leiomyosarcoma skos:exactMatch UMLS:C1333157 semapv:UnspecifiedMatching MONDO:0003349 central nervous system leiomyosarcoma skos:exactMatch DOID:5254 central nervous system leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003349 central nervous system leiomyosarcoma skos:exactMatch NCIT:C6999 Central Nervous System Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003349 central nervous system leiomyosarcoma skos:exactMatch UMLS:C1334385 semapv:UnspecifiedMatching MONDO:0003350 granular cell leiomyosarcoma skos:exactMatch DOID:5258 granular cell leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003350 granular cell leiomyosarcoma skos:exactMatch NCIT:C27494 Granular Cell Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003350 granular cell leiomyosarcoma skos:exactMatch UMLS:C1333871 semapv:UnspecifiedMatching MONDO:0003351 colon leiomyosarcoma skos:exactMatch DOID:5259 colon leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003351 colon leiomyosarcoma skos:exactMatch NCIT:C5494 Colon Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003351 colon leiomyosarcoma skos:exactMatch UMLS:C1333093 semapv:UnspecifiedMatching MONDO:0003352 colon sarcoma skos:exactMatch DOID:5260 colon sarcoma semapv:UnspecifiedMatching MONDO:0003352 colon sarcoma skos:exactMatch NCIT:C5495 Colon Sarcoma semapv:UnspecifiedMatching MONDO:0003352 colon sarcoma skos:exactMatch UMLS:C1333098 semapv:UnspecifiedMatching MONDO:0003353 heart leiomyosarcoma skos:exactMatch DOID:5261 heart leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003353 heart leiomyosarcoma skos:exactMatch NCIT:C5364 Cardiac Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003353 heart leiomyosarcoma skos:exactMatch UMLS:C1332848 semapv:UnspecifiedMatching MONDO:0003354 heart sarcoma skos:exactMatch DOID:5262 heart sarcoma semapv:UnspecifiedMatching MONDO:0003354 heart sarcoma skos:exactMatch NCIT:C7723 Cardiac Sarcoma semapv:UnspecifiedMatching MONDO:0003354 heart sarcoma skos:exactMatch UMLS:C0238152 semapv:UnspecifiedMatching MONDO:0003355 ovary leiomyosarcoma skos:exactMatch DOID:5263 ovary leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003355 ovary leiomyosarcoma skos:exactMatch NCIT:C5234 Ovarian Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003355 ovary leiomyosarcoma skos:exactMatch UMLS:C1335163 semapv:UnspecifiedMatching MONDO:0003356 epithelioid leiomyosarcoma skos:exactMatch DOID:5264 epithelioid leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003356 epithelioid leiomyosarcoma skos:exactMatch NCIT:C3700 Epithelioid Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003356 epithelioid leiomyosarcoma skos:exactMatch UMLS:C0205815 semapv:UnspecifiedMatching MONDO:0003357 lung leiomyosarcoma skos:exactMatch DOID:5265 lung leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003357 lung leiomyosarcoma skos:exactMatch NCIT:C5667 Lung Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003357 lung leiomyosarcoma skos:exactMatch UMLS:C1334448 semapv:UnspecifiedMatching MONDO:0003358 anus leiomyosarcoma skos:exactMatch DOID:5267 anus leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003358 anus leiomyosarcoma skos:exactMatch NCIT:C5599 Anal Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003358 anus leiomyosarcoma skos:exactMatch UMLS:C1332267 semapv:UnspecifiedMatching MONDO:0003359 myxoid leiomyosarcoma skos:exactMatch DOID:5268 myxoid leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003359 myxoid leiomyosarcoma skos:exactMatch NCIT:C3701 Myxoid Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003359 myxoid leiomyosarcoma skos:exactMatch UMLS:C0205816 semapv:UnspecifiedMatching MONDO:0003360 small intestine leiomyosarcoma skos:exactMatch DOID:5271 small intestine leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003360 small intestine leiomyosarcoma skos:exactMatch NCIT:C7085 Small Intestinal Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003360 small intestine leiomyosarcoma skos:exactMatch Orphanet:104076 Leiomyosarcoma of small intestine semapv:UnspecifiedMatching MONDO:0003360 small intestine leiomyosarcoma skos:exactMatch SCTID:716651004 semapv:UnspecifiedMatching MONDO:0003360 small intestine leiomyosarcoma skos:exactMatch UMLS:C0920305 semapv:UnspecifiedMatching MONDO:0003361 small intestinal sarcoma skos:exactMatch DOID:5272 small intestinal sarcoma semapv:UnspecifiedMatching MONDO:0003361 small intestinal sarcoma skos:exactMatch NCIT:C5335 Small Intestinal Sarcoma semapv:UnspecifiedMatching MONDO:0003361 small intestinal sarcoma skos:exactMatch UMLS:C1336007 semapv:UnspecifiedMatching MONDO:0003362 cutaneous leiomyosarcoma skos:exactMatch DOID:5273 cutaneous leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003362 cutaneous leiomyosarcoma skos:exactMatch NCIT:C4484 Atypical Intradermal Smooth Muscle Neoplasm semapv:UnspecifiedMatching MONDO:0003362 cutaneous leiomyosarcoma skos:exactMatch SCTID:254771006 semapv:UnspecifiedMatching MONDO:0003362 cutaneous leiomyosarcoma skos:exactMatch UMLS:C0346067 semapv:UnspecifiedMatching MONDO:0003363 malignant dermis tumor skos:exactMatch DOID:5274 malignant dermis tumor semapv:UnspecifiedMatching MONDO:0003363 malignant dermis tumor skos:exactMatch NCIT:C4574 Malignant Dermal Neoplasm semapv:UnspecifiedMatching MONDO:0003363 malignant dermis tumor skos:exactMatch SCTID:255096006 semapv:UnspecifiedMatching MONDO:0003363 malignant dermis tumor skos:exactMatch UMLS:C0346811 semapv:UnspecifiedMatching MONDO:0003364 gallbladder leiomyosarcoma skos:exactMatch DOID:5275 gallbladder leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003364 gallbladder leiomyosarcoma skos:exactMatch NCIT:C5841 Gallbladder Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003364 gallbladder leiomyosarcoma skos:exactMatch UMLS:C1333746 semapv:UnspecifiedMatching MONDO:0003365 esophagus leiomyosarcoma skos:exactMatch DOID:5276 esophagus leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003365 esophagus leiomyosarcoma skos:exactMatch NCIT:C5334 Esophageal Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003365 esophagus leiomyosarcoma skos:exactMatch UMLS:C1333454 semapv:UnspecifiedMatching MONDO:0003366 hydrarthrosis skos:exactMatch DOID:528 hydrarthrosis semapv:UnspecifiedMatching MONDO:0003366 hydrarthrosis skos:exactMatch SCTID:387637008 semapv:UnspecifiedMatching MONDO:0003366 hydrarthrosis skos:exactMatch mesh:D006833 semapv:UnspecifiedMatching MONDO:0003367 gastric leiomyosarcoma skos:exactMatch DOID:5280 gastric leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003367 gastric leiomyosarcoma skos:exactMatch NCIT:C27200 Gastric Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003367 gastric leiomyosarcoma skos:exactMatch SCTID:447785000 semapv:UnspecifiedMatching MONDO:0003367 gastric leiomyosarcoma skos:exactMatch UMLS:C0744295 semapv:UnspecifiedMatching MONDO:0003368 prostate leiomyosarcoma skos:exactMatch DOID:5282 prostate leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003368 prostate leiomyosarcoma skos:exactMatch NCIT:C5526 Prostate Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003368 prostate leiomyosarcoma skos:exactMatch UMLS:C1335511 semapv:UnspecifiedMatching MONDO:0003369 vagina leiomyosarcoma skos:exactMatch DOID:5283 vagina leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003369 vagina leiomyosarcoma skos:exactMatch NCIT:C6326 Vaginal Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003369 vagina leiomyosarcoma skos:exactMatch UMLS:C1336940 semapv:UnspecifiedMatching MONDO:0003370 retroperitoneal leiomyosarcoma skos:exactMatch DOID:5284 retroperitoneal leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003370 retroperitoneal leiomyosarcoma skos:exactMatch NCIT:C27904 Retroperitoneal Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003370 retroperitoneal leiomyosarcoma skos:exactMatch UMLS:C2187547 semapv:UnspecifiedMatching MONDO:0003371 breast leiomyosarcoma skos:exactMatch DOID:5285 breast leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003371 breast leiomyosarcoma skos:exactMatch NCIT:C5186 Breast Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003371 breast leiomyosarcoma skos:exactMatch UMLS:C1332631 semapv:UnspecifiedMatching MONDO:0003372 vulvar leiomyosarcoma skos:exactMatch DOID:5286 vulvar leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003372 vulvar leiomyosarcoma skos:exactMatch NCIT:C40318 Vulvar Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003372 vulvar leiomyosarcoma skos:exactMatch UMLS:C2168304 semapv:UnspecifiedMatching MONDO:0003373 kidney leiomyosarcoma skos:exactMatch DOID:5287 kidney leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003373 kidney leiomyosarcoma skos:exactMatch NCIT:C6183 Kidney Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003373 kidney leiomyosarcoma skos:exactMatch UMLS:C1335743 semapv:UnspecifiedMatching MONDO:0003374 laryngeal leiomyosarcoma skos:exactMatch DOID:5288 larynx leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003374 laryngeal leiomyosarcoma skos:exactMatch NCIT:C6022 Laryngeal Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003374 laryngeal leiomyosarcoma skos:exactMatch UMLS:C1334371 semapv:UnspecifiedMatching MONDO:0003376 mediastinum leiomyosarcoma skos:exactMatch DOID:5292 mediastinum leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003376 mediastinum leiomyosarcoma skos:exactMatch NCIT:C6619 Mediastinal Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003376 mediastinum leiomyosarcoma skos:exactMatch UMLS:C1334660 semapv:UnspecifiedMatching MONDO:0003377 extrahepatic bile duct leiomyosarcoma skos:exactMatch DOID:5293 extrahepatic bile duct leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003377 extrahepatic bile duct leiomyosarcoma skos:exactMatch NCIT:C5848 Extrahepatic Bile Duct Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003377 extrahepatic bile duct leiomyosarcoma skos:exactMatch UMLS:C1333508 semapv:UnspecifiedMatching MONDO:0003378 liver leiomyosarcoma skos:exactMatch DOID:5296 liver leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003378 liver leiomyosarcoma skos:exactMatch NCIT:C5756 Liver Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003378 liver leiomyosarcoma skos:exactMatch UMLS:C1333969 semapv:UnspecifiedMatching MONDO:0003379 rectum leiomyosarcoma skos:exactMatch DOID:5297 rectum leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003379 rectum leiomyosarcoma skos:exactMatch NCIT:C5549 Rectal Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003379 rectum leiomyosarcoma skos:exactMatch UMLS:C1335683 semapv:UnspecifiedMatching MONDO:0003381 pituitary gland disorder skos:exactMatch DOID:53 pituitary gland disease semapv:UnspecifiedMatching MONDO:0003381 pituitary gland disorder skos:exactMatch NCIT:C26854 Pituitary Gland Disorder semapv:UnspecifiedMatching MONDO:0003381 pituitary gland disorder skos:exactMatch SCTID:399244003 semapv:UnspecifiedMatching MONDO:0003381 pituitary gland disorder skos:exactMatch mesh:D010900 semapv:UnspecifiedMatching MONDO:0003382 eyelid disorder skos:exactMatch DOID:530 eyelid disease semapv:UnspecifiedMatching MONDO:0003382 eyelid disorder skos:exactMatch ICD10CM:H00 Hordeolum and chalazion semapv:UnspecifiedMatching MONDO:0003382 eyelid disorder skos:exactMatch NCIT:C26768 Eyelid Disorder semapv:UnspecifiedMatching MONDO:0003382 eyelid disorder skos:exactMatch SCTID:60113004 semapv:UnspecifiedMatching MONDO:0003382 eyelid disorder skos:exactMatch mesh:D005141 semapv:UnspecifiedMatching MONDO:0003383 fallopian tube clear cell adenocarcinoma skos:exactMatch DOID:5301 fallopian tube clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0003383 fallopian tube clear cell adenocarcinoma skos:exactMatch NCIT:C6280 Fallopian Tube Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003383 fallopian tube clear cell adenocarcinoma skos:exactMatch UMLS:C1333591 semapv:UnspecifiedMatching MONDO:0003384 uterine ligament clear cell adenocarcinoma skos:exactMatch DOID:5302 uterine ligament clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0003384 uterine ligament clear cell adenocarcinoma skos:exactMatch NCIT:C40139 Broad Ligament Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003386 bladder clear cell adenocarcinoma skos:exactMatch DOID:5306 bladder clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0003386 bladder clear cell adenocarcinoma skos:exactMatch NCIT:C6179 Bladder Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003386 bladder clear cell adenocarcinoma skos:exactMatch UMLS:C1332557 semapv:UnspecifiedMatching MONDO:0003387 urethra clear cell adenocarcinoma skos:exactMatch DOID:5307 urethra clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0003387 urethra clear cell adenocarcinoma skos:exactMatch NCIT:C6172 Urethral Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003387 urethra clear cell adenocarcinoma skos:exactMatch UMLS:C1336886 semapv:UnspecifiedMatching MONDO:0003388 ampulla of vater clear cell adenocarcinoma skos:exactMatch DOID:5308 ampulla of Vater clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0003388 ampulla of vater clear cell adenocarcinoma skos:exactMatch NCIT:C27414 Ampulla of Vater Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003388 ampulla of vater clear cell adenocarcinoma skos:exactMatch UMLS:C1332246 semapv:UnspecifiedMatching MONDO:0003389 epithelial-myoepithelial carcinoma skos:exactMatch DOID:5309 epithelial-myoepithelial carcinoma semapv:UnspecifiedMatching MONDO:0003389 epithelial-myoepithelial carcinoma skos:exactMatch NCIT:C4199 Epithelial-Myoepithelial Carcinoma semapv:UnspecifiedMatching MONDO:0003389 epithelial-myoepithelial carcinoma skos:exactMatch UMLS:C0334392 semapv:UnspecifiedMatching MONDO:0003390 glycogen-rich clear cell breast carcinoma skos:exactMatch DOID:5310 glycogen-rich clear cell breast carcinoma semapv:UnspecifiedMatching MONDO:0003390 glycogen-rich clear cell breast carcinoma skos:exactMatch NCIT:C40368 Glycogen-Rich, Clear Cell Breast Carcinoma semapv:UnspecifiedMatching MONDO:0003390 glycogen-rich clear cell breast carcinoma skos:exactMatch UMLS:C2012261 semapv:UnspecifiedMatching MONDO:0003391 vulvar alveolar soft part sarcoma skos:exactMatch DOID:5313 vulvar alveolar soft part sarcoma semapv:UnspecifiedMatching MONDO:0003391 vulvar alveolar soft part sarcoma skos:exactMatch NCIT:C40320 Vulvar Alveolar Soft Part Sarcoma semapv:UnspecifiedMatching MONDO:0003391 vulvar alveolar soft part sarcoma skos:exactMatch UMLS:C1520069 semapv:UnspecifiedMatching MONDO:0003392 fallopian tube germ cell tumor skos:exactMatch DOID:5324 fallopian tube germ cell cancer semapv:UnspecifiedMatching MONDO:0003392 fallopian tube germ cell tumor skos:exactMatch NCIT:C40130 Fallopian Tube Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003392 fallopian tube germ cell tumor skos:exactMatch UMLS:C1517114 semapv:UnspecifiedMatching MONDO:0003393 thymus gland disorder skos:exactMatch DOID:533 thymus gland disease semapv:UnspecifiedMatching MONDO:0003393 thymus gland disorder skos:exactMatch NCIT:C26962 Thymus Disorder semapv:UnspecifiedMatching MONDO:0003393 thymus gland disorder skos:exactMatch SCTID:20673009 semapv:UnspecifiedMatching MONDO:0003393 thymus gland disorder skos:exactMatch UMLS:C0154199 semapv:UnspecifiedMatching MONDO:0003394 dental pulp disorder skos:exactMatch DOID:5330 dental pulp disease semapv:UnspecifiedMatching MONDO:0003394 dental pulp disorder skos:exactMatch NCIT:C34530 Dental Pulp Disorder semapv:UnspecifiedMatching MONDO:0003394 dental pulp disorder skos:exactMatch SCTID:57203004 semapv:UnspecifiedMatching MONDO:0003394 dental pulp disorder skos:exactMatch UMLS:C0011405 semapv:UnspecifiedMatching MONDO:0003394 dental pulp disorder skos:exactMatch mesh:D003788 semapv:UnspecifiedMatching MONDO:0003395 testicular granulosa cell tumor skos:exactMatch DOID:5331 testicular granulosa cell tumor semapv:UnspecifiedMatching MONDO:0003395 testicular granulosa cell tumor skos:exactMatch NCIT:C6357 Testicular Granulosa Cell Tumor semapv:UnspecifiedMatching MONDO:0003395 testicular granulosa cell tumor skos:exactMatch UMLS:C1336709 semapv:UnspecifiedMatching MONDO:0003396 epulis skos:exactMatch DOID:5337 epulis semapv:UnspecifiedMatching MONDO:0003396 epulis skos:exactMatch NCIT:C3948 Gingival Polyp semapv:UnspecifiedMatching MONDO:0003396 epulis skos:exactMatch SCTID:45676007 semapv:UnspecifiedMatching MONDO:0003396 epulis skos:exactMatch UMLS:C0266919 semapv:UnspecifiedMatching MONDO:0003397 gingival hypertrophy skos:exactMatch DOID:5338 gingival hypertrophy semapv:UnspecifiedMatching MONDO:0003397 gingival hypertrophy skos:exactMatch UMLS:C0017567 semapv:UnspecifiedMatching MONDO:0003397 gingival hypertrophy skos:exactMatch mesh:D005886 semapv:UnspecifiedMatching MONDO:0003398 anterograde amnesia skos:exactMatch DOID:5340 anterograde amnesia semapv:UnspecifiedMatching MONDO:0003398 anterograde amnesia skos:exactMatch ICD10CM:R41.1 Anterograde amnesia semapv:UnspecifiedMatching MONDO:0003398 anterograde amnesia skos:exactMatch mesh:D020324 semapv:UnspecifiedMatching MONDO:0003399 pineal region yolk sac tumor skos:exactMatch DOID:5341 pineal region yolk sac tumor semapv:UnspecifiedMatching MONDO:0003399 pineal region yolk sac tumor skos:exactMatch NCIT:C6752 Pineal Region Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0003399 pineal region yolk sac tumor skos:exactMatch UMLS:C1335420 semapv:UnspecifiedMatching MONDO:0003400 childhood endodermal sinus tumor skos:exactMatch DOID:5342 childhood endodermal sinus tumor semapv:UnspecifiedMatching MONDO:0003400 childhood endodermal sinus tumor skos:exactMatch NCIT:C27364 Childhood Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0003400 childhood endodermal sinus tumor skos:exactMatch UMLS:C1333016 semapv:UnspecifiedMatching MONDO:0003401 central nervous system endodermal sinus tumor skos:exactMatch DOID:5343 central nervous system endodermal sinus tumor semapv:UnspecifiedMatching MONDO:0003401 central nervous system endodermal sinus tumor skos:exactMatch NCIT:C6209 Childhood Central Nervous System Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0003402 testicular yolk sac tumor skos:exactMatch DOID:5344 testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0003402 testicular yolk sac tumor skos:exactMatch NCIT:C8000 Testicular Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0003402 testicular yolk sac tumor skos:exactMatch UMLS:C0279708 semapv:UnspecifiedMatching MONDO:0003403 testicular non-seminomatous germ cell cancer skos:exactMatch DOID:5345 testicular non-seminomatous germ cell cancer semapv:UnspecifiedMatching MONDO:0003403 testicular non-seminomatous germ cell cancer skos:exactMatch NCIT:C5027 Malignant Testicular Non-Seminomatous Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003403 testicular non-seminomatous germ cell cancer skos:exactMatch UMLS:C1334625 semapv:UnspecifiedMatching MONDO:0003404 adult yolk sac tumor skos:exactMatch DOID:5348 adult endodermal sinus tumor semapv:UnspecifiedMatching MONDO:0003404 adult yolk sac tumor skos:exactMatch NCIT:C27241 Adult Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0003404 adult yolk sac tumor skos:exactMatch UMLS:C1332221 semapv:UnspecifiedMatching MONDO:0003405 adult central nervous system germ cell tumor skos:exactMatch DOID:5349 central nervous system adult germ cell tumor semapv:UnspecifiedMatching MONDO:0003405 adult central nervous system germ cell tumor skos:exactMatch NCIT:C6285 Adult Central Nervous System Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003405 adult central nervous system germ cell tumor skos:exactMatch UMLS:C0280796 semapv:UnspecifiedMatching MONDO:0003406 sleep-wake disorder skos:exactMatch DOID:535 sleep disorder semapv:UnspecifiedMatching MONDO:0003406 sleep-wake disorder skos:exactMatch ICD10CM:G47 Sleep disorders semapv:UnspecifiedMatching MONDO:0003406 sleep-wake disorder skos:exactMatch SCTID:39898005 semapv:UnspecifiedMatching MONDO:0003406 sleep-wake disorder skos:exactMatch mesh:D012893 semapv:UnspecifiedMatching MONDO:0003408 ovarian primitive germ cell tumor skos:exactMatch DOID:5351 ovarian primitive germ cell tumor semapv:UnspecifiedMatching MONDO:0003408 ovarian primitive germ cell tumor skos:exactMatch NCIT:C39986 Ovarian Primitive Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003408 ovarian primitive germ cell tumor skos:exactMatch UMLS:C1518727 semapv:UnspecifiedMatching MONDO:0003409 colonic disorder skos:exactMatch DOID:5353 colonic disease semapv:UnspecifiedMatching MONDO:0003409 colonic disorder skos:exactMatch SCTID:128524007 semapv:UnspecifiedMatching MONDO:0003409 colonic disorder skos:exactMatch UMLS:C0009373 semapv:UnspecifiedMatching MONDO:0003409 colonic disorder skos:exactMatch mesh:D003108 semapv:UnspecifiedMatching MONDO:0003410 Wolffian duct adenocarcinoma skos:exactMatch DOID:5368 Wolffian duct adenocarcinoma semapv:UnspecifiedMatching MONDO:0003410 Wolffian duct adenocarcinoma skos:exactMatch NCIT:C40254 Cervical Mesonephric Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003410 Wolffian duct adenocarcinoma skos:exactMatch UMLS:C1516419 semapv:UnspecifiedMatching MONDO:0003411 breast hemangiopericytoma skos:exactMatch DOID:5370 breast hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003411 breast hemangiopericytoma skos:exactMatch NCIT:C40396 Breast Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003411 breast hemangiopericytoma skos:exactMatch UMLS:C1511313 semapv:UnspecifiedMatching MONDO:0003412 retroperitoneal hemangiopericytoma skos:exactMatch DOID:5373 retroperitoneal hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003412 retroperitoneal hemangiopericytoma skos:exactMatch NCIT:C5386 Retroperitoneal Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003412 retroperitoneal hemangiopericytoma skos:exactMatch UMLS:C1335777 semapv:UnspecifiedMatching MONDO:0003413 hair follicle neoplasm skos:exactMatch DOID:5375 hair follicle neoplasm semapv:UnspecifiedMatching MONDO:0003413 hair follicle neoplasm skos:exactMatch NCIT:C7367 Hair Follicle Neoplasm semapv:UnspecifiedMatching MONDO:0003413 hair follicle neoplasm skos:exactMatch UMLS:C0859920 semapv:UnspecifiedMatching MONDO:0003414 skin pilomatrix carcinoma skos:exactMatch DOID:5376 skin pilomatrix carcinoma semapv:UnspecifiedMatching MONDO:0003414 skin pilomatrix carcinoma skos:exactMatch NCIT:C4114 Pilomatrical Carcinoma semapv:UnspecifiedMatching MONDO:0003414 skin pilomatrix carcinoma skos:exactMatch Orphanet:499182 Pilomatrix carcinoma semapv:UnspecifiedMatching MONDO:0003414 skin pilomatrix carcinoma skos:exactMatch SCTID:307610008 semapv:UnspecifiedMatching MONDO:0003414 skin pilomatrix carcinoma skos:exactMatch UMLS:C0585475 semapv:UnspecifiedMatching MONDO:0003417 internuclear ophthalmoplegia skos:exactMatch DOID:538 internuclear ophthalmoplegia semapv:UnspecifiedMatching MONDO:0003417 internuclear ophthalmoplegia skos:exactMatch ICD10CM:H51.2 Internuclear ophthalmoplegia semapv:UnspecifiedMatching MONDO:0003417 internuclear ophthalmoplegia skos:exactMatch SCTID:49823009 semapv:UnspecifiedMatching MONDO:0003417 internuclear ophthalmoplegia skos:exactMatch UMLS:C0152134 semapv:UnspecifiedMatching MONDO:0003419 Bartholin gland adenoma skos:exactMatch DOID:5382 Bartholin's gland adenoma semapv:UnspecifiedMatching MONDO:0003419 Bartholin gland adenoma skos:exactMatch NCIT:C40299 Bartholin Gland Adenoma semapv:UnspecifiedMatching MONDO:0003419 Bartholin gland adenoma skos:exactMatch UMLS:C1511048 semapv:UnspecifiedMatching MONDO:0003420 bile duct cystadenoma skos:exactMatch DOID:5384 bile duct cystadenoma semapv:UnspecifiedMatching MONDO:0003420 bile duct cystadenoma skos:exactMatch NCIT:C4129 Bile Duct Mucinous Cystic Neoplasm semapv:UnspecifiedMatching MONDO:0003420 bile duct cystadenoma skos:exactMatch UMLS:C0334285 semapv:UnspecifiedMatching MONDO:0003421 mixed cell adenoma skos:exactMatch DOID:5385 mixed cell adenoma semapv:UnspecifiedMatching MONDO:0003421 mixed cell adenoma skos:exactMatch NCIT:C4157 Mixed Cell Adenoma semapv:UnspecifiedMatching MONDO:0003421 mixed cell adenoma skos:exactMatch UMLS:C0334323 semapv:UnspecifiedMatching MONDO:0003422 lung adenoma skos:exactMatch DOID:5386 lung adenoma semapv:UnspecifiedMatching MONDO:0003422 lung adenoma skos:exactMatch NCIT:C4455 Lung Adenoma semapv:UnspecifiedMatching MONDO:0003422 lung adenoma skos:exactMatch SCTID:254642004 semapv:UnspecifiedMatching MONDO:0003422 lung adenoma skos:exactMatch UMLS:C0345964 semapv:UnspecifiedMatching MONDO:0003423 middle ear adenoma skos:exactMatch DOID:5387 middle ear adenoma semapv:UnspecifiedMatching MONDO:0003423 middle ear adenoma skos:exactMatch NCIT:C6834 Middle Ear Adenoma semapv:UnspecifiedMatching MONDO:0003423 middle ear adenoma skos:exactMatch SCTID:734078009 semapv:UnspecifiedMatching MONDO:0003423 middle ear adenoma skos:exactMatch UMLS:C1334759 semapv:UnspecifiedMatching MONDO:0003424 oncocytic adenoma skos:exactMatch DOID:5389 oxyphilic adenoma semapv:UnspecifiedMatching MONDO:0003424 oncocytic adenoma skos:exactMatch NCIT:C3759 Oncocytic Adenoma semapv:UnspecifiedMatching MONDO:0003424 oncocytic adenoma skos:exactMatch UMLS:C1510502 semapv:UnspecifiedMatching MONDO:0003425 ophthalmoplegia skos:exactMatch DOID:539 ophthalmoplegia semapv:UnspecifiedMatching MONDO:0003425 ophthalmoplegia skos:exactMatch SCTID:78097002 semapv:UnspecifiedMatching MONDO:0003425 ophthalmoplegia skos:exactMatch mesh:D009886 semapv:UnspecifiedMatching MONDO:0003426 clear cell adenoma skos:exactMatch DOID:5390 clear cell adenoma semapv:UnspecifiedMatching MONDO:0003426 clear cell adenoma skos:exactMatch NCIT:C4151 Clear Cell Adenoma semapv:UnspecifiedMatching MONDO:0003426 clear cell adenoma skos:exactMatch UMLS:C0334315 semapv:UnspecifiedMatching MONDO:0003427 bronchus adenoma skos:exactMatch DOID:5391 bronchus adenoma semapv:UnspecifiedMatching MONDO:0003427 bronchus adenoma skos:exactMatch NCIT:C3494 Lung Papillary Adenoma semapv:UnspecifiedMatching MONDO:0003427 bronchus adenoma skos:exactMatch UMLS:C0149845 semapv:UnspecifiedMatching MONDO:0003428 brain hemangioma skos:exactMatch DOID:5393 brain angioma semapv:UnspecifiedMatching MONDO:0003428 brain hemangioma skos:exactMatch NCIT:C7739 Brain Hemangioma semapv:UnspecifiedMatching MONDO:0003428 brain hemangioma skos:exactMatch UMLS:C0238814 semapv:UnspecifiedMatching MONDO:0003429 functioning pituitary gland adenoma skos:exactMatch DOID:5395 functioning pituitary adenoma semapv:UnspecifiedMatching MONDO:0003429 functioning pituitary gland adenoma skos:exactMatch NCIT:C8388 Functioning Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003429 functioning pituitary gland adenoma skos:exactMatch Orphanet:314753 Functioning pituitary adenoma semapv:UnspecifiedMatching MONDO:0003429 functioning pituitary gland adenoma skos:exactMatch UMLS:C0854486 semapv:UnspecifiedMatching MONDO:0003430 prolactin producing pituitary tumor skos:exactMatch DOID:5396 prolactin producing pituitary tumor semapv:UnspecifiedMatching MONDO:0003430 prolactin producing pituitary tumor skos:exactMatch UMLS:C0278863 semapv:UnspecifiedMatching MONDO:0003431 lipoadenoma skos:exactMatch DOID:5398 lipoadenoma semapv:UnspecifiedMatching MONDO:0003431 lipoadenoma skos:exactMatch NCIT:C4159 Lipoadenoma semapv:UnspecifiedMatching MONDO:0003431 lipoadenoma skos:exactMatch UMLS:C0334325 semapv:UnspecifiedMatching MONDO:0003432 strabismus skos:exactMatch DOID:540 strabismus semapv:UnspecifiedMatching MONDO:0003432 strabismus skos:exactMatch NCIT:C35040 Strabismus semapv:UnspecifiedMatching MONDO:0003432 strabismus skos:exactMatch SCTID:22066006 semapv:UnspecifiedMatching MONDO:0003432 strabismus skos:exactMatch UMLS:C0038379 semapv:UnspecifiedMatching MONDO:0003432 strabismus skos:exactMatch mesh:D013285 semapv:UnspecifiedMatching MONDO:0003433 water-clear cell adenoma skos:exactMatch DOID:5401 water-clear cell adenoma semapv:UnspecifiedMatching MONDO:0003433 water-clear cell adenoma skos:exactMatch NCIT:C4155 Parathyroid Gland Water-Clear Cell Adenoma semapv:UnspecifiedMatching MONDO:0003433 water-clear cell adenoma skos:exactMatch UMLS:C0334321 semapv:UnspecifiedMatching MONDO:0003434 vaginal adenoma skos:exactMatch DOID:5402 vaginal adenoma semapv:UnspecifiedMatching MONDO:0003434 vaginal adenoma skos:exactMatch NCIT:C40256 Vaginal Adenoma semapv:UnspecifiedMatching MONDO:0003434 vaginal adenoma skos:exactMatch UMLS:C1519913 semapv:UnspecifiedMatching MONDO:0003435 microcystic adenoma skos:exactMatch DOID:5403 microcystic adenoma semapv:UnspecifiedMatching MONDO:0003435 microcystic adenoma skos:exactMatch NCIT:C3685 Microcystic Adenoma semapv:UnspecifiedMatching MONDO:0003435 microcystic adenoma skos:exactMatch UMLS:C0205648 semapv:UnspecifiedMatching MONDO:0003437 occult small cell lung carcinoma skos:exactMatch DOID:5414 lung occult small cell carcinoma semapv:UnspecifiedMatching MONDO:0003437 occult small cell lung carcinoma skos:exactMatch NCIT:C6683 Occult Lung Small Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003437 occult small cell lung carcinoma skos:exactMatch UMLS:C1335099 semapv:UnspecifiedMatching MONDO:0003438 combined small cell lung carcinoma skos:exactMatch DOID:5421 lung combined type small cell carcinoma semapv:UnspecifiedMatching MONDO:0003438 combined small cell lung carcinoma skos:exactMatch NCIT:C9137 Combined Lung Small Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003438 combined small cell lung carcinoma skos:exactMatch UMLS:C1333125 semapv:UnspecifiedMatching MONDO:0003439 urinary bladder villous adenoma skos:exactMatch DOID:5427 urinary bladder villous adenoma semapv:UnspecifiedMatching MONDO:0003439 urinary bladder villous adenoma skos:exactMatch NCIT:C7414 Bladder Villous Adenoma semapv:UnspecifiedMatching MONDO:0003439 urinary bladder villous adenoma skos:exactMatch UMLS:C1336893 semapv:UnspecifiedMatching MONDO:0003441 dystonic disorder skos:exactMatch DOID:543 dystonia semapv:UnspecifiedMatching MONDO:0003441 dystonic disorder skos:exactMatch ICD10CM:G24 Dystonia semapv:UnspecifiedMatching MONDO:0003441 dystonic disorder skos:exactMatch NCIT:C34563 Dystonia semapv:UnspecifiedMatching MONDO:0003441 dystonic disorder skos:exactMatch SCTID:15802004 semapv:UnspecifiedMatching MONDO:0003441 dystonic disorder skos:exactMatch mesh:D020821 semapv:UnspecifiedMatching MONDO:0003442 bladder papillary urothelial neoplasm skos:exactMatch DOID:5432 bladder papillary transitional cell neoplasm semapv:UnspecifiedMatching MONDO:0003442 bladder papillary urothelial neoplasm skos:exactMatch NCIT:C39857 Bladder Papillary Urothelial Neoplasm semapv:UnspecifiedMatching MONDO:0003442 bladder papillary urothelial neoplasm skos:exactMatch UMLS:C1511197 semapv:UnspecifiedMatching MONDO:0003443 papillary urothelial neoplasm skos:exactMatch DOID:5433 urinary tract papillary transitional cell benign neoplasm semapv:UnspecifiedMatching MONDO:0003443 papillary urothelial neoplasm skos:exactMatch NCIT:C27883 Papillary Urothelial Neoplasm semapv:UnspecifiedMatching MONDO:0003443 papillary urothelial neoplasm skos:exactMatch UMLS:C1335329 semapv:UnspecifiedMatching MONDO:0003444 intrahepatic bile duct adenoma skos:exactMatch DOID:5437 intrahepatic bile duct adenoma semapv:UnspecifiedMatching MONDO:0003444 intrahepatic bile duct adenoma skos:exactMatch NCIT:C7126 Intrahepatic Bile Duct Adenoma semapv:UnspecifiedMatching MONDO:0003444 intrahepatic bile duct adenoma skos:exactMatch UMLS:C1331535 semapv:UnspecifiedMatching MONDO:0003445 extrahepatic bile duct adenoma skos:exactMatch DOID:5438 extrahepatic bile duct adenoma semapv:UnspecifiedMatching MONDO:0003445 extrahepatic bile duct adenoma skos:exactMatch NCIT:C5857 Extrahepatic Bile Duct Adenoma semapv:UnspecifiedMatching MONDO:0003445 extrahepatic bile duct adenoma skos:exactMatch UMLS:C1331534 semapv:UnspecifiedMatching MONDO:0003446 papillary hidradenoma skos:exactMatch DOID:5439 papillary hidradenoma semapv:UnspecifiedMatching MONDO:0003446 papillary hidradenoma skos:exactMatch NCIT:C4171 Hidradenoma Papilliferum semapv:UnspecifiedMatching MONDO:0003446 papillary hidradenoma skos:exactMatch SCTID:307597000 semapv:UnspecifiedMatching MONDO:0003446 papillary hidradenoma skos:exactMatch UMLS:C0334348 semapv:UnspecifiedMatching MONDO:0003447 clear cell hidradenoma skos:exactMatch DOID:5443 clear cell hidradenoma semapv:UnspecifiedMatching MONDO:0003447 clear cell hidradenoma skos:exactMatch NCIT:C7567 Clear Cell Hidradenoma semapv:UnspecifiedMatching MONDO:0003447 clear cell hidradenoma skos:exactMatch UMLS:C1370701 semapv:UnspecifiedMatching MONDO:0003448 benign spiradenoma skos:exactMatch DOID:5444 spiradenoma semapv:UnspecifiedMatching MONDO:0003448 benign spiradenoma skos:exactMatch NCIT:C4170 Spiradenoma semapv:UnspecifiedMatching MONDO:0003448 benign spiradenoma skos:exactMatch SCTID:403938001 semapv:UnspecifiedMatching MONDO:0003448 benign spiradenoma skos:exactMatch UMLS:C0334347 semapv:UnspecifiedMatching MONDO:0003450 eccrine papillary adenoma skos:exactMatch DOID:5446 eccrine papillary adenoma semapv:UnspecifiedMatching MONDO:0003450 eccrine papillary adenoma skos:exactMatch NCIT:C4173 Papillary Eccrine Adenoma semapv:UnspecifiedMatching MONDO:0003450 eccrine papillary adenoma skos:exactMatch SCTID:253021007 semapv:UnspecifiedMatching MONDO:0003450 eccrine papillary adenoma skos:exactMatch UMLS:C0334350 semapv:UnspecifiedMatching MONDO:0003452 cochlear disorder skos:exactMatch DOID:5463 cochlear disease semapv:UnspecifiedMatching MONDO:0003452 cochlear disorder skos:exactMatch UMLS:C0009197 semapv:UnspecifiedMatching MONDO:0003452 cochlear disorder skos:exactMatch mesh:D015834 semapv:UnspecifiedMatching MONDO:0003453 conjunctival intraepithelial neoplasm skos:exactMatch DOID:5465 conjunctival intraepithelial neoplasm semapv:UnspecifiedMatching MONDO:0003453 conjunctival intraepithelial neoplasm skos:exactMatch NCIT:C6120 Conjunctival Squamous Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO:0003453 conjunctival intraepithelial neoplasm skos:exactMatch SCTID:418134006 semapv:UnspecifiedMatching MONDO:0003453 conjunctival intraepithelial neoplasm skos:exactMatch UMLS:C1333148 semapv:UnspecifiedMatching MONDO:0003454 conjunctival cancer skos:exactMatch DOID:5467 conjunctival cancer semapv:UnspecifiedMatching MONDO:0003454 conjunctival cancer skos:exactMatch NCIT:C3564 Malignant Conjunctival Neoplasm semapv:UnspecifiedMatching MONDO:0003454 conjunctival cancer skos:exactMatch SCTID:363463000 semapv:UnspecifiedMatching MONDO:0003455 bile duct papillary neoplasm skos:exactMatch DOID:5468 biliary papillomatosis semapv:UnspecifiedMatching MONDO:0003455 bile duct papillary neoplasm skos:exactMatch NCIT:C6881 Bile Duct Intraductal Papillary Neoplasm semapv:UnspecifiedMatching MONDO:0003455 bile duct papillary neoplasm skos:exactMatch UMLS:C1879344 semapv:UnspecifiedMatching MONDO:0003456 obsolete bile duct mucinous cystic neoplasm skos:exactMatch DOID:5469 biliary tract intraductal papillary mucinous neoplasm semapv:UnspecifiedMatching MONDO:0003458 uterine corpus adenofibroma skos:exactMatch DOID:5475 uterine corpus adenofibroma semapv:UnspecifiedMatching MONDO:0003458 uterine corpus adenofibroma skos:exactMatch NCIT:C6337 Uterine Corpus Adenofibroma semapv:UnspecifiedMatching MONDO:0003458 uterine corpus adenofibroma skos:exactMatch UMLS:C1336901 semapv:UnspecifiedMatching MONDO:0003459 cervical adenofibroma skos:exactMatch DOID:5476 cervical adenofibroma semapv:UnspecifiedMatching MONDO:0003459 cervical adenofibroma skos:exactMatch NCIT:C40230 Cervical Adenofibroma semapv:UnspecifiedMatching MONDO:0003459 cervical adenofibroma skos:exactMatch UMLS:C1516402 semapv:UnspecifiedMatching MONDO:0003460 clear cell adenofibroma skos:exactMatch DOID:5477 clear cell adenofibroma semapv:UnspecifiedMatching MONDO:0003460 clear cell adenofibroma skos:exactMatch NCIT:C8987 Clear Cell Adenofibroma semapv:UnspecifiedMatching MONDO:0003461 fallopian tube serous adenofibroma skos:exactMatch DOID:5478 fallopian tube adenofibroma semapv:UnspecifiedMatching MONDO:0003461 fallopian tube serous adenofibroma skos:exactMatch NCIT:C40113 Fallopian Tube Serous Adenofibroma semapv:UnspecifiedMatching MONDO:0003461 fallopian tube serous adenofibroma skos:exactMatch UMLS:C1517109 semapv:UnspecifiedMatching MONDO:0003462 papillary adenofibroma skos:exactMatch DOID:5479 papillary adenofibroma semapv:UnspecifiedMatching MONDO:0003462 papillary adenofibroma skos:exactMatch NCIT:C8986 Papillary Adenofibroma semapv:UnspecifiedMatching MONDO:0003462 papillary adenofibroma skos:exactMatch UMLS:C1377850 semapv:UnspecifiedMatching MONDO:0003463 ovarian endometrioid adenofibroma skos:exactMatch DOID:5480 ovarian endometrioid adenofibroma semapv:UnspecifiedMatching MONDO:0003463 ovarian endometrioid adenofibroma skos:exactMatch NCIT:C27287 Ovarian Endometrioid Adenofibroma semapv:UnspecifiedMatching MONDO:0003463 ovarian endometrioid adenofibroma skos:exactMatch UMLS:C2212024 semapv:UnspecifiedMatching MONDO:0003464 cystadenofibroma skos:exactMatch DOID:5482 cystadenofibroma semapv:UnspecifiedMatching MONDO:0003464 cystadenofibroma skos:exactMatch NCIT:C8985 Cystadenofibroma semapv:UnspecifiedMatching MONDO:0003464 cystadenofibroma skos:exactMatch mesh:D062625 semapv:UnspecifiedMatching MONDO:0003465 fibrous synovial sarcoma skos:exactMatch DOID:5484 fibrous synovial sarcoma semapv:UnspecifiedMatching MONDO:0003465 fibrous synovial sarcoma skos:exactMatch NCIT:C6533 Fibrous Synovial Sarcoma semapv:UnspecifiedMatching MONDO:0003465 fibrous synovial sarcoma skos:exactMatch UMLS:C1333616 semapv:UnspecifiedMatching MONDO:0003466 spindle cell synovial sarcoma skos:exactMatch DOID:5487 spindle cell synovial sarcoma semapv:UnspecifiedMatching MONDO:0003466 spindle cell synovial sarcoma skos:exactMatch NCIT:C4277 Spindle Cell Synovial Sarcoma semapv:UnspecifiedMatching MONDO:0003466 spindle cell synovial sarcoma skos:exactMatch UMLS:C0334505 semapv:UnspecifiedMatching MONDO:0003467 mediastinum synovial sarcoma skos:exactMatch DOID:5488 mediastinum synovial sarcoma semapv:UnspecifiedMatching MONDO:0003467 mediastinum synovial sarcoma skos:exactMatch NCIT:C6618 Mediastinal Synovial Sarcoma semapv:UnspecifiedMatching MONDO:0003467 mediastinum synovial sarcoma skos:exactMatch UMLS:C1334681 semapv:UnspecifiedMatching MONDO:0003468 biphasic synovial sarcoma skos:exactMatch DOID:5492 biphasic synovial sarcoma semapv:UnspecifiedMatching MONDO:0003468 biphasic synovial sarcoma skos:exactMatch NCIT:C4279 Biphasic Synovial Sarcoma semapv:UnspecifiedMatching MONDO:0003468 biphasic synovial sarcoma skos:exactMatch UMLS:C0334507 semapv:UnspecifiedMatching MONDO:0003469 epithelioid cell synovial sarcoma skos:exactMatch DOID:5494 epithelioid cell synovial sarcoma semapv:UnspecifiedMatching MONDO:0003469 epithelioid cell synovial sarcoma skos:exactMatch NCIT:C4278 Epithelial Synovial Sarcoma semapv:UnspecifiedMatching MONDO:0003469 epithelioid cell synovial sarcoma skos:exactMatch UMLS:C0334506 semapv:UnspecifiedMatching MONDO:0003470 cellular ependymoma skos:exactMatch DOID:5500 cellular ependymoma semapv:UnspecifiedMatching MONDO:0003470 cellular ependymoma skos:exactMatch NCIT:C4713 Cellular Ependymoma semapv:UnspecifiedMatching MONDO:0003470 cellular ependymoma skos:exactMatch UMLS:C1384403 semapv:UnspecifiedMatching MONDO:0003471 Pediculus humanus capitis infestation skos:exactMatch DOID:5501 Pediculus humanus capitis infestation semapv:UnspecifiedMatching MONDO:0003471 Pediculus humanus capitis infestation skos:exactMatch SCTID:81000006 semapv:UnspecifiedMatching MONDO:0003471 Pediculus humanus capitis infestation skos:exactMatch UMLS:C0030757 semapv:UnspecifiedMatching MONDO:0003472 lice infestation skos:exactMatch DOID:5502 lice infestation semapv:UnspecifiedMatching MONDO:0003472 lice infestation skos:exactMatch ICD10CM:B85.2 Pediculosis, unspecified semapv:UnspecifiedMatching MONDO:0003472 lice infestation skos:exactMatch NCIT:C128401 Pediculosis semapv:UnspecifiedMatching MONDO:0003472 lice infestation skos:exactMatch mesh:D010373 semapv:UnspecifiedMatching MONDO:0003473 spinal cord ependymoma skos:exactMatch DOID:5503 spinal cord ependymoma semapv:UnspecifiedMatching MONDO:0003473 spinal cord ependymoma skos:exactMatch NCIT:C3875 Spinal Cord Ependymoma semapv:UnspecifiedMatching MONDO:0003473 spinal cord ependymoma skos:exactMatch SCTID:254949006 semapv:UnspecifiedMatching MONDO:0003473 spinal cord ependymoma skos:exactMatch UMLS:C0238432 semapv:UnspecifiedMatching MONDO:0003474 tanycytic ependymoma skos:exactMatch DOID:5504 tanycytic ependymoma semapv:UnspecifiedMatching MONDO:0003474 tanycytic ependymoma skos:exactMatch NCIT:C6903 Tanycytic Ependymoma semapv:UnspecifiedMatching MONDO:0003474 tanycytic ependymoma skos:exactMatch UMLS:C1370500 semapv:UnspecifiedMatching MONDO:0003475 papillary ependymoma skos:exactMatch DOID:5505 papillary ependymoma semapv:UnspecifiedMatching MONDO:0003475 papillary ependymoma skos:exactMatch NCIT:C4319 Papillary Ependymoma semapv:UnspecifiedMatching MONDO:0003475 papillary ependymoma skos:exactMatch UMLS:C0334578 semapv:UnspecifiedMatching MONDO:0003476 clear cell ependymoma skos:exactMatch DOID:5507 clear cell ependymoma semapv:UnspecifiedMatching MONDO:0003476 clear cell ependymoma skos:exactMatch NCIT:C4714 Clear Cell Ependymoma semapv:UnspecifiedMatching MONDO:0003477 brain stem ependymoma skos:exactMatch DOID:5508 brain stem ependymoma semapv:UnspecifiedMatching MONDO:0003477 brain stem ependymoma skos:exactMatch NCIT:C5098 Brain Stem Ependymoma semapv:UnspecifiedMatching MONDO:0003477 brain stem ependymoma skos:exactMatch UMLS:C1332609 semapv:UnspecifiedMatching MONDO:0003478 childhood ependymoma skos:exactMatch DOID:5509 childhood ependymoma semapv:UnspecifiedMatching MONDO:0003478 childhood ependymoma skos:exactMatch NCIT:C8578 Childhood Ependymoma semapv:UnspecifiedMatching MONDO:0003478 childhood ependymoma skos:exactMatch mesh:C531673 semapv:UnspecifiedMatching MONDO:0003479 toxic pneumonitis skos:exactMatch DOID:551 toxic pneumonitis semapv:UnspecifiedMatching MONDO:0003479 toxic pneumonitis skos:exactMatch SCTID:233733000 semapv:UnspecifiedMatching MONDO:0003479 toxic pneumonitis skos:exactMatch UMLS:C3714582 semapv:UnspecifiedMatching MONDO:0003480 pineal region dysgerminoma skos:exactMatch DOID:5510 pineal dysgerminoma semapv:UnspecifiedMatching MONDO:0003480 pineal region dysgerminoma skos:exactMatch NCIT:C7169 Pineal Region Dysgerminoma semapv:UnspecifiedMatching MONDO:0003480 pineal region dysgerminoma skos:exactMatch UMLS:C1335415 semapv:UnspecifiedMatching MONDO:0003481 dysgerminoma of ovary skos:exactMatch DOID:5511 dysgerminoma of ovary semapv:UnspecifiedMatching MONDO:0003481 dysgerminoma of ovary skos:exactMatch NCIT:C8106 Ovarian Dysgerminoma semapv:UnspecifiedMatching MONDO:0003481 dysgerminoma of ovary skos:exactMatch SCTID:254874008 semapv:UnspecifiedMatching MONDO:0003481 dysgerminoma of ovary skos:exactMatch UMLS:C0346185 semapv:UnspecifiedMatching MONDO:0003482 Pediculus humanus corporis infestation skos:exactMatch DOID:5513 Pediculus humanus corporis infestation semapv:UnspecifiedMatching MONDO:0003482 Pediculus humanus corporis infestation skos:exactMatch SCTID:25188002 semapv:UnspecifiedMatching MONDO:0003482 Pediculus humanus corporis infestation skos:exactMatch UMLS:C0030758 semapv:UnspecifiedMatching MONDO:0003486 basaloid squamous cell carcinoma skos:exactMatch DOID:5522 basaloid squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003486 basaloid squamous cell carcinoma skos:exactMatch NCIT:C54244 Basaloid Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003486 basaloid squamous cell carcinoma skos:exactMatch UMLS:C1266005 semapv:UnspecifiedMatching MONDO:0003487 pseudoglandular squamous cell carcinoma skos:exactMatch DOID:5524 adenoid squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003487 pseudoglandular squamous cell carcinoma skos:exactMatch NCIT:C4106 Pseudoglandular Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003487 pseudoglandular squamous cell carcinoma skos:exactMatch SCTID:403901001 semapv:UnspecifiedMatching MONDO:0003487 pseudoglandular squamous cell carcinoma skos:exactMatch UMLS:C5400033 semapv:UnspecifiedMatching MONDO:0003490 ampulla of vater squamous cell carcinoma skos:exactMatch DOID:5527 ampulla of Vater squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003490 ampulla of vater squamous cell carcinoma skos:exactMatch NCIT:C27417 Ampulla of Vater Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003490 ampulla of vater squamous cell carcinoma skos:exactMatch UMLS:C1332251 semapv:UnspecifiedMatching MONDO:0003492 lacrimal gland squamous cell carcinoma skos:exactMatch DOID:5529 lacrimal gland squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003492 lacrimal gland squamous cell carcinoma skos:exactMatch NCIT:C6092 Lacrimal Drainage System Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003492 lacrimal gland squamous cell carcinoma skos:exactMatch UMLS:C1334360 semapv:UnspecifiedMatching MONDO:0003493 thymus squamous cell carcinoma skos:exactMatch DOID:5530 thymus squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003493 thymus squamous cell carcinoma skos:exactMatch NCIT:C6455 Thymic Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003493 thymus squamous cell carcinoma skos:exactMatch UMLS:C1336082 semapv:UnspecifiedMatching MONDO:0003494 ovarian squamous cell carcinoma skos:exactMatch DOID:5531 ovarian squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003494 ovarian squamous cell carcinoma skos:exactMatch NCIT:C40093 Ovarian Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003494 ovarian squamous cell carcinoma skos:exactMatch UMLS:C2019443 semapv:UnspecifiedMatching MONDO:0003497 renal pelvis squamous cell carcinoma skos:exactMatch DOID:5534 renal pelvis squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003497 renal pelvis squamous cell carcinoma skos:exactMatch NCIT:C7732 Renal Pelvis Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003497 renal pelvis squamous cell carcinoma skos:exactMatch UMLS:C0238409 semapv:UnspecifiedMatching MONDO:0003499 sarcomatoid squamous cell skin carcinoma skos:exactMatch DOID:5536 sarcomatoid squamous cell skin carcinoma semapv:UnspecifiedMatching MONDO:0003499 sarcomatoid squamous cell skin carcinoma skos:exactMatch NCIT:C4666 Skin Spindle Cell Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003499 sarcomatoid squamous cell skin carcinoma skos:exactMatch SCTID:254653005 semapv:UnspecifiedMatching MONDO:0003499 sarcomatoid squamous cell skin carcinoma skos:exactMatch UMLS:C0349656 semapv:UnspecifiedMatching MONDO:0003500 squamous cell bile duct carcinoma skos:exactMatch DOID:5537 squamous cell bile duct carcinoma semapv:UnspecifiedMatching MONDO:0003500 squamous cell bile duct carcinoma skos:exactMatch UMLS:C0861861 semapv:UnspecifiedMatching MONDO:0003501 external ear squamous cell carcinoma skos:exactMatch DOID:5538 external ear squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003501 external ear squamous cell carcinoma skos:exactMatch NCIT:C6083 External Ear Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003501 external ear squamous cell carcinoma skos:exactMatch UMLS:C1333494 semapv:UnspecifiedMatching MONDO:0003502 ureter squamous cell carcinoma skos:exactMatch DOID:5539 ureter squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003502 ureter squamous cell carcinoma skos:exactMatch NCIT:C6154 Ureter Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003502 ureter squamous cell carcinoma skos:exactMatch UMLS:C1336879 semapv:UnspecifiedMatching MONDO:0003503 fallopian tube squamous cell carcinoma skos:exactMatch DOID:5540 fallopian tube squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003503 fallopian tube squamous cell carcinoma skos:exactMatch NCIT:C6282 Fallopian Tube Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003503 fallopian tube squamous cell carcinoma skos:exactMatch UMLS:C1333596 semapv:UnspecifiedMatching MONDO:0003504 anal canal neuroendocrine neoplasm skos:exactMatch DOID:5545 anal neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0003504 anal canal neuroendocrine neoplasm skos:exactMatch NCIT:C5603 Anal Canal Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0003504 anal canal neuroendocrine neoplasm skos:exactMatch SCTID:717917007 semapv:UnspecifiedMatching MONDO:0003505 femoral cancer skos:exactMatch DOID:5546 femoral cancer semapv:UnspecifiedMatching MONDO:0003505 femoral cancer skos:exactMatch mesh:D005266 semapv:UnspecifiedMatching MONDO:0003506 pulmonary artery choriocarcinoma skos:exactMatch DOID:5547 pulmonary artery choriocarcinoma semapv:UnspecifiedMatching MONDO:0003506 pulmonary artery choriocarcinoma skos:exactMatch NCIT:C5381 Pulmonary Artery Choriocarcinoma semapv:UnspecifiedMatching MONDO:0003506 pulmonary artery choriocarcinoma skos:exactMatch UMLS:C1335571 semapv:UnspecifiedMatching MONDO:0003507 choriocarcinoma of ovary skos:exactMatch DOID:5550 choriocarcinoma of ovary semapv:UnspecifiedMatching MONDO:0003507 choriocarcinoma of ovary skos:exactMatch NCIT:C4515 Ovarian Choriocarcinoma semapv:UnspecifiedMatching MONDO:0003507 choriocarcinoma of ovary skos:exactMatch SCTID:254870004 semapv:UnspecifiedMatching MONDO:0003507 choriocarcinoma of ovary skos:exactMatch UMLS:C0346181 semapv:UnspecifiedMatching MONDO:0003508 choriocarcinoma of testis skos:exactMatch DOID:5551 choriocarcinoma of the testis semapv:UnspecifiedMatching MONDO:0003508 choriocarcinoma of testis skos:exactMatch NCIT:C7733 Testicular Choriocarcinoma semapv:UnspecifiedMatching MONDO:0003508 choriocarcinoma of testis skos:exactMatch UMLS:C0238449 semapv:UnspecifiedMatching MONDO:0003509 pineal region choriocarcinoma skos:exactMatch DOID:5553 pineal region choriocarcinoma semapv:UnspecifiedMatching MONDO:0003509 pineal region choriocarcinoma skos:exactMatch NCIT:C6759 Pineal Region Choriocarcinoma semapv:UnspecifiedMatching MONDO:0003509 pineal region choriocarcinoma skos:exactMatch UMLS:C1335414 semapv:UnspecifiedMatching MONDO:0003510 malignant testicular germ cell tumor skos:exactMatch DOID:5556 testicular malignant germ cell cancer semapv:UnspecifiedMatching MONDO:0003510 malignant testicular germ cell tumor skos:exactMatch NCIT:C9063 Malignant Testicular Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003510 malignant testicular germ cell tumor skos:exactMatch SCTID:713646001 semapv:UnspecifiedMatching MONDO:0003510 malignant testicular germ cell tumor skos:exactMatch UMLS:C0855197 semapv:UnspecifiedMatching MONDO:0003512 mediastinal mesenchymal tumor skos:exactMatch DOID:5560 mediastinal mesenchymal tumor semapv:UnspecifiedMatching MONDO:0003512 mediastinal mesenchymal tumor skos:exactMatch NCIT:C6637 Mediastinal Soft Tissue Neoplasm semapv:UnspecifiedMatching MONDO:0003512 mediastinal mesenchymal tumor skos:exactMatch UMLS:C1334669 semapv:UnspecifiedMatching MONDO:0003513 gastric teratoma skos:exactMatch DOID:5561 gastric teratoma semapv:UnspecifiedMatching MONDO:0003513 gastric teratoma skos:exactMatch NCIT:C5259 Gastric Teratoma semapv:UnspecifiedMatching MONDO:0003513 gastric teratoma skos:exactMatch UMLS:C1333790 semapv:UnspecifiedMatching MONDO:0003514 malignant teratoma skos:exactMatch DOID:5563 malignant teratoma semapv:UnspecifiedMatching MONDO:0003514 malignant teratoma skos:exactMatch NCIT:C4287 Malignant Teratoma semapv:UnspecifiedMatching MONDO:0003515 fallopian tube teratoma skos:exactMatch DOID:5564 fallopian tube teratoma semapv:UnspecifiedMatching MONDO:0003515 fallopian tube teratoma skos:exactMatch NCIT:C40131 Fallopian Tube Teratoma semapv:UnspecifiedMatching MONDO:0003515 fallopian tube teratoma skos:exactMatch UMLS:C1517127 semapv:UnspecifiedMatching MONDO:0003516 adult teratoma skos:exactMatch DOID:5565 adult teratoma semapv:UnspecifiedMatching MONDO:0003516 adult teratoma skos:exactMatch NCIT:C9013 Adult Teratoma semapv:UnspecifiedMatching MONDO:0003516 adult teratoma skos:exactMatch UMLS:C1368898 semapv:UnspecifiedMatching MONDO:0003517 mature teratoma skos:exactMatch DOID:5566 mature teratoma semapv:UnspecifiedMatching MONDO:0003517 mature teratoma skos:exactMatch NCIT:C9015 Mature Teratoma semapv:UnspecifiedMatching MONDO:0003517 mature teratoma skos:exactMatch SCTID:254875009 semapv:UnspecifiedMatching MONDO:0003517 mature teratoma skos:exactMatch UMLS:C1368910 semapv:UnspecifiedMatching MONDO:0003518 mediastinum teratoma skos:exactMatch DOID:5568 mediastinum teratoma semapv:UnspecifiedMatching MONDO:0003518 mediastinum teratoma skos:exactMatch NCIT:C6438 Mediastinal Teratoma semapv:UnspecifiedMatching MONDO:0003518 mediastinum teratoma skos:exactMatch UMLS:C1334682 semapv:UnspecifiedMatching MONDO:0003519 malignant syringoma skos:exactMatch DOID:5569 malignant syringoma semapv:UnspecifiedMatching MONDO:0003519 malignant syringoma skos:exactMatch NCIT:C7581 Microcystic Adnexal Carcinoma semapv:UnspecifiedMatching MONDO:0003519 malignant syringoma skos:exactMatch SCTID:254712007 semapv:UnspecifiedMatching MONDO:0003519 malignant syringoma skos:exactMatch UMLS:C0346027 semapv:UnspecifiedMatching MONDO:0003522 male orgasm disorder skos:exactMatch DOID:5576 inhibited male orgasm semapv:UnspecifiedMatching MONDO:0003522 male orgasm disorder skos:exactMatch ICD10CM:F52.32 Male orgasmic disorder semapv:UnspecifiedMatching MONDO:0003522 male orgasm disorder skos:exactMatch NCIT:C34959 Male Orgasmic Disorder semapv:UnspecifiedMatching MONDO:0003522 male orgasm disorder skos:exactMatch SCTID:81903006 semapv:UnspecifiedMatching MONDO:0003523 gastrin-producing neuroendocrine tumor skos:exactMatch DOID:5577 gastrinoma semapv:UnspecifiedMatching MONDO:0003523 gastrin-producing neuroendocrine tumor skos:exactMatch NCIT:C3050 Gastrin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003523 gastrin-producing neuroendocrine tumor skos:exactMatch UMLS:C0017150 semapv:UnspecifiedMatching MONDO:0003524 gastric gastrin-producing neuroendocrine tumor skos:exactMatch DOID:5579 gastric gastrinoma semapv:UnspecifiedMatching MONDO:0003524 gastric gastrin-producing neuroendocrine tumor skos:exactMatch NCIT:C27444 Gastric Gastrin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003524 gastric gastrin-producing neuroendocrine tumor skos:exactMatch UMLS:C1333767 semapv:UnspecifiedMatching MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor skos:exactMatch DOID:5580 pancreatic gastrinoma semapv:UnspecifiedMatching MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor skos:exactMatch NCIT:C9069 Pancreatic Gastrin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor skos:exactMatch UMLS:C1368066 semapv:UnspecifiedMatching MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor skos:exactMatch mesh:D015408 semapv:UnspecifiedMatching MONDO:0003528 Volkmann contracture skos:exactMatch DOID:5587 Volkmann contracture semapv:UnspecifiedMatching MONDO:0003528 Volkmann contracture skos:exactMatch NCIT:C35130 Volkmann's Ischemic Contracture semapv:UnspecifiedMatching MONDO:0003528 Volkmann contracture skos:exactMatch SCTID:111247001 semapv:UnspecifiedMatching MONDO:0003528 Volkmann contracture skos:exactMatch UMLS:C0042951 semapv:UnspecifiedMatching MONDO:0003528 Volkmann contracture skos:exactMatch mesh:D054061 semapv:UnspecifiedMatching MONDO:0003529 acute pyelonephritis skos:exactMatch DOID:559 acute pyelonephritis semapv:UnspecifiedMatching MONDO:0003529 acute pyelonephritis skos:exactMatch ICD10CM:N10 Acute pyelonephritis semapv:UnspecifiedMatching MONDO:0003529 acute pyelonephritis skos:exactMatch NCIT:C123215 Acute Pyelonephritis semapv:UnspecifiedMatching MONDO:0003529 acute pyelonephritis skos:exactMatch SCTID:36689008 semapv:UnspecifiedMatching MONDO:0003529 acute pyelonephritis skos:exactMatch UMLS:C0520575 semapv:UnspecifiedMatching MONDO:0003530 aggressive digital papillary adenocarcinoma skos:exactMatch DOID:5590 aggressive digital papillary adenocarcinoma semapv:UnspecifiedMatching MONDO:0003531 papillary eccrine carcinoma skos:exactMatch DOID:5591 eccrine papillary adenocarcinoma semapv:UnspecifiedMatching MONDO:0003531 papillary eccrine carcinoma skos:exactMatch NCIT:C27254 Papillary Eccrine Carcinoma semapv:UnspecifiedMatching MONDO:0003531 papillary eccrine carcinoma skos:exactMatch SCTID:254709009 semapv:UnspecifiedMatching MONDO:0003531 papillary eccrine carcinoma skos:exactMatch UMLS:C1707880 semapv:UnspecifiedMatching MONDO:0003532 breast papillary carcinoma skos:exactMatch DOID:5592 breast papillary carcinoma semapv:UnspecifiedMatching MONDO:0003532 breast papillary carcinoma skos:exactMatch NCIT:C9134 Breast Papillary Carcinoma semapv:UnspecifiedMatching MONDO:0003532 breast papillary carcinoma skos:exactMatch UMLS:C3812899 semapv:UnspecifiedMatching MONDO:0003534 papillary thymic adenocarcinoma skos:exactMatch DOID:5595 papillary thymic adenocarcinoma semapv:UnspecifiedMatching MONDO:0003534 papillary thymic adenocarcinoma skos:exactMatch NCIT:C27937 Thymic Low Grade Papillary Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003534 papillary thymic adenocarcinoma skos:exactMatch UMLS:C1335327 semapv:UnspecifiedMatching MONDO:0003535 fallopian tube papillary adenocarcinoma skos:exactMatch DOID:5597 fallopian tube papillary adenocarcinoma semapv:UnspecifiedMatching MONDO:0003535 fallopian tube papillary adenocarcinoma skos:exactMatch NCIT:C6267 Fallopian Tube Papillary Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003535 fallopian tube papillary adenocarcinoma skos:exactMatch UMLS:C1333595 semapv:UnspecifiedMatching MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia skos:exactMatch NCIT:C8694 T Lymphoblastic Leukemia/Lymphoma semapv:UnspecifiedMatching MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia skos:exactMatch UMLS:C1301359 semapv:UnspecifiedMatching MONDO:0003538 precursor lymphoblastic lymphoma/leukemia skos:exactMatch NCIT:C7055 Precursor Lymphoid Neoplasm semapv:UnspecifiedMatching MONDO:0003538 precursor lymphoblastic lymphoma/leukemia skos:exactMatch UMLS:C1335469 semapv:UnspecifiedMatching MONDO:0003539 T-cell adult acute lymphocytic leukemia skos:exactMatch DOID:5602 T-cell adult acute lymphocytic leukemia semapv:UnspecifiedMatching MONDO:0003539 T-cell adult acute lymphocytic leukemia skos:exactMatch NCIT:C9142 Adult T Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO:0003539 T-cell adult acute lymphocytic leukemia skos:exactMatch UMLS:C0279592 semapv:UnspecifiedMatching MONDO:0003540 acute T cell leukemia skos:exactMatch DOID:5603 T-cell acute lymphoblastic leukemia semapv:UnspecifiedMatching MONDO:0003540 acute T cell leukemia skos:exactMatch SCTID:277575008 semapv:UnspecifiedMatching MONDO:0003541 adult acute lymphoblastic leukemia skos:exactMatch DOID:5604 adult acute lymphocytic leukemia semapv:UnspecifiedMatching MONDO:0003541 adult acute lymphoblastic leukemia skos:exactMatch NCIT:C4967 Adult Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO:0003541 adult acute lymphoblastic leukemia skos:exactMatch UMLS:C0751606 semapv:UnspecifiedMatching MONDO:0003542 dental pulp calcification skos:exactMatch DOID:5608 dental pulp calcification semapv:UnspecifiedMatching MONDO:0003542 dental pulp calcification skos:exactMatch SCTID:57602001 semapv:UnspecifiedMatching MONDO:0003542 dental pulp calcification skos:exactMatch UMLS:C0011401 semapv:UnspecifiedMatching MONDO:0003542 dental pulp calcification skos:exactMatch mesh:D003784 semapv:UnspecifiedMatching MONDO:0003543 trigeminal nerve disorder skos:exactMatch DOID:561 trigeminal nerve disease semapv:UnspecifiedMatching MONDO:0003543 trigeminal nerve disorder skos:exactMatch NCIT:C26952 Trigeminal Nerve Disorder semapv:UnspecifiedMatching MONDO:0003543 trigeminal nerve disorder skos:exactMatch SCTID:64309007 semapv:UnspecifiedMatching MONDO:0003543 trigeminal nerve disorder skos:exactMatch mesh:D020433 semapv:UnspecifiedMatching MONDO:0003544 spinal cord cancer skos:exactMatch DOID:5612 spinal cancer semapv:UnspecifiedMatching MONDO:0003544 spinal cord cancer skos:exactMatch ICD10CM:C72.0 Malignant neoplasm of spinal cord semapv:UnspecifiedMatching MONDO:0003544 spinal cord cancer skos:exactMatch NCIT:C3572 Malignant Spinal Cord Neoplasm semapv:UnspecifiedMatching MONDO:0003544 spinal cord cancer skos:exactMatch SCTID:363475005 semapv:UnspecifiedMatching MONDO:0003544 spinal cord cancer skos:exactMatch UMLS:C0153646 semapv:UnspecifiedMatching MONDO:0003545 intradural extramedullary spinal canal neoplasm skos:exactMatch DOID:5615 spinal canal intradural extramedullary neoplasm semapv:UnspecifiedMatching MONDO:0003545 intradural extramedullary spinal canal neoplasm skos:exactMatch NCIT:C5135 Intradural Extramedullary Spinal Canal Neoplasm semapv:UnspecifiedMatching MONDO:0003545 intradural extramedullary spinal canal neoplasm skos:exactMatch UMLS:C1334255 semapv:UnspecifiedMatching MONDO:0003546 third cranial nerve disorder skos:exactMatch DOID:562 third cranial nerve disease semapv:UnspecifiedMatching MONDO:0003546 third cranial nerve disorder skos:exactMatch NCIT:C27598 Oculomotor Nerve Disorder semapv:UnspecifiedMatching MONDO:0003546 third cranial nerve disorder skos:exactMatch SCTID:60750009 semapv:UnspecifiedMatching MONDO:0003546 third cranial nerve disorder skos:exactMatch UMLS:C0271353 semapv:UnspecifiedMatching MONDO:0003546 third cranial nerve disorder skos:exactMatch mesh:D015840 semapv:UnspecifiedMatching MONDO:0003548 adenosquamous breast carcinoma skos:exactMatch DOID:5623 adenosquamous breast carcinoma semapv:UnspecifiedMatching MONDO:0003548 adenosquamous breast carcinoma skos:exactMatch NCIT:C40361 Breast Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0003548 adenosquamous breast carcinoma skos:exactMatch UMLS:C1510796 semapv:UnspecifiedMatching MONDO:0003549 adenosquamous bile duct carcinoma skos:exactMatch DOID:5624 adenosquamous bile duct carcinoma semapv:UnspecifiedMatching MONDO:0003549 adenosquamous bile duct carcinoma skos:exactMatch UMLS:C0861854 semapv:UnspecifiedMatching MONDO:0003550 esophageal adenosquamous carcinoma skos:exactMatch DOID:5625 esophageal adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0003550 esophageal adenosquamous carcinoma skos:exactMatch NCIT:C27421 Esophageal Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0003550 esophageal adenosquamous carcinoma skos:exactMatch UMLS:C2063886 semapv:UnspecifiedMatching MONDO:0003551 thymic adenosquamous carcinoma skos:exactMatch DOID:5626 thymus adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0003551 thymic adenosquamous carcinoma skos:exactMatch NCIT:C6458 Thymic Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0003551 thymic adenosquamous carcinoma skos:exactMatch UMLS:C1332171 semapv:UnspecifiedMatching MONDO:0003553 ampulla of vater adenosquamous carcinoma skos:exactMatch DOID:5628 ampulla of Vater adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0003553 ampulla of vater adenosquamous carcinoma skos:exactMatch NCIT:C27418 Ampulla of Vater Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0003553 ampulla of vater adenosquamous carcinoma skos:exactMatch UMLS:C1332245 semapv:UnspecifiedMatching MONDO:0003554 adenosquamous colon carcinoma skos:exactMatch DOID:5629 adenosquamous colon carcinoma semapv:UnspecifiedMatching MONDO:0003554 adenosquamous colon carcinoma skos:exactMatch NCIT:C5491 Colon Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0003554 adenosquamous colon carcinoma skos:exactMatch UMLS:C1333082 semapv:UnspecifiedMatching MONDO:0003555 Bartholin gland adenosquamous carcinoma skos:exactMatch DOID:5630 Bartholin's gland adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0003555 Bartholin gland adenosquamous carcinoma skos:exactMatch NCIT:C40296 Bartholin Gland Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0003555 Bartholin gland adenosquamous carcinoma skos:exactMatch UMLS:C1511050 semapv:UnspecifiedMatching MONDO:0003556 endometrial adenosquamous carcinoma skos:exactMatch DOID:5631 endometrial adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0003556 endometrial adenosquamous carcinoma skos:exactMatch NCIT:C114656 Endometrial Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0003556 endometrial adenosquamous carcinoma skos:exactMatch UMLS:C3896969 semapv:UnspecifiedMatching MONDO:0003557 optic nerve sheath meningioma skos:exactMatch DOID:5632 optic nerve sheath meningioma semapv:UnspecifiedMatching MONDO:0003557 optic nerve sheath meningioma skos:exactMatch NCIT:C4538 Optic Nerve Sheath Meningioma semapv:UnspecifiedMatching MONDO:0003557 optic nerve sheath meningioma skos:exactMatch SCTID:254978007 semapv:UnspecifiedMatching MONDO:0003557 optic nerve sheath meningioma skos:exactMatch UMLS:C0346328 semapv:UnspecifiedMatching MONDO:0003558 adenosquamous prostate carcinoma skos:exactMatch DOID:5634 adenosquamous prostate carcinoma semapv:UnspecifiedMatching MONDO:0003558 adenosquamous prostate carcinoma skos:exactMatch NCIT:C5538 Prostate Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0003558 adenosquamous prostate carcinoma skos:exactMatch UMLS:C1335503 semapv:UnspecifiedMatching MONDO:0003561 malignant giant cell tumor of soft parts skos:exactMatch DOID:5638 malignant giant cell tumor of soft parts semapv:UnspecifiedMatching MONDO:0003561 malignant giant cell tumor of soft parts skos:exactMatch NCIT:C8380 Undifferentiated Pleomorphic Sarcoma with Osteoclast-Like Giant Cells semapv:UnspecifiedMatching MONDO:0003561 malignant giant cell tumor of soft parts skos:exactMatch UMLS:C0334554 semapv:UnspecifiedMatching MONDO:0003562 rete testis neoplasm skos:exactMatch DOID:5639 rete testis neoplasm semapv:UnspecifiedMatching MONDO:0003562 rete testis neoplasm skos:exactMatch NCIT:C39955 Rete Testis Neoplasm semapv:UnspecifiedMatching MONDO:0003562 rete testis neoplasm skos:exactMatch UMLS:C1514912 semapv:UnspecifiedMatching MONDO:0003563 diffuse pulmonary fibrosis skos:exactMatch DOID:5641 diffuse pulmonary fibrosis semapv:UnspecifiedMatching MONDO:0003563 diffuse pulmonary fibrosis skos:exactMatch NCIT:C27216 Diffuse Pulmonary Fibrosis semapv:UnspecifiedMatching MONDO:0003563 diffuse pulmonary fibrosis skos:exactMatch UMLS:C0865849 semapv:UnspecifiedMatching MONDO:0003564 localized pulmonary fibrosis skos:exactMatch DOID:5642 localized pulmonary fibrosis semapv:UnspecifiedMatching MONDO:0003564 localized pulmonary fibrosis skos:exactMatch NCIT:C27103 Localized Pulmonary Fibrosis semapv:UnspecifiedMatching MONDO:0003564 localized pulmonary fibrosis skos:exactMatch SCTID:233726000 semapv:UnspecifiedMatching MONDO:0003564 localized pulmonary fibrosis skos:exactMatch UMLS:C0340127 semapv:UnspecifiedMatching MONDO:0003565 urethral villous adenoma skos:exactMatch DOID:5643 urethral villous adenoma semapv:UnspecifiedMatching MONDO:0003565 urethral villous adenoma skos:exactMatch NCIT:C39872 Urethral Villous Adenoma semapv:UnspecifiedMatching MONDO:0003565 urethral villous adenoma skos:exactMatch UMLS:C1519828 semapv:UnspecifiedMatching MONDO:0003567 bilateral hypoactive labyrinth skos:exactMatch DOID:565 bilateral hypoactive labyrinth semapv:UnspecifiedMatching MONDO:0003567 bilateral hypoactive labyrinth skos:exactMatch SCTID:194375009 semapv:UnspecifiedMatching MONDO:0003567 bilateral hypoactive labyrinth skos:exactMatch UMLS:C0155518 semapv:UnspecifiedMatching MONDO:0003568 disorder of optic chiasm skos:exactMatch DOID:5655 chiasmal syndrome semapv:UnspecifiedMatching MONDO:0003568 disorder of optic chiasm skos:exactMatch ICD10CM:H47.4 Disorders of optic chiasm semapv:UnspecifiedMatching MONDO:0003568 disorder of optic chiasm skos:exactMatch SCTID:70476006 semapv:UnspecifiedMatching MONDO:0003568 disorder of optic chiasm skos:exactMatch UMLS:C0155307 semapv:UnspecifiedMatching MONDO:0003569 cranial nerve neuropathy skos:exactMatch DOID:5656 cranial nerve disease semapv:UnspecifiedMatching MONDO:0003569 cranial nerve neuropathy skos:exactMatch NCIT:C26733 Cranial Nerve Disorder semapv:UnspecifiedMatching MONDO:0003569 cranial nerve neuropathy skos:exactMatch SCTID:73013002 semapv:UnspecifiedMatching MONDO:0003569 cranial nerve neuropathy skos:exactMatch UMLS:C0010266 semapv:UnspecifiedMatching MONDO:0003569 cranial nerve neuropathy skos:exactMatch mesh:D003389 semapv:UnspecifiedMatching MONDO:0003570 lipid-rich carcinoma skos:exactMatch DOID:5658 lipid-rich carcinoma semapv:UnspecifiedMatching MONDO:0003570 lipid-rich carcinoma skos:exactMatch NCIT:C4152 Lipid-Rich Carcinoma semapv:UnspecifiedMatching MONDO:0003570 lipid-rich carcinoma skos:exactMatch UMLS:C0334318 semapv:UnspecifiedMatching MONDO:0003571 obsolete labyrinthine dysfunction skos:exactMatch DOID:566 labyrinthine dysfunction semapv:UnspecifiedMatching MONDO:0003571 obsolete labyrinthine dysfunction skos:exactMatch ICD10CM:H83.2 Labyrinthine dysfunction semapv:UnspecifiedMatching MONDO:0003571 obsolete labyrinthine dysfunction skos:exactMatch SCTID:5239005 semapv:UnspecifiedMatching MONDO:0003571 obsolete labyrinthine dysfunction skos:exactMatch UMLS:C0155514 semapv:UnspecifiedMatching MONDO:0003572 nasopharyngeal type undifferentiated carcinoma skos:exactMatch DOID:5660 lymphoepithelioma-like carcinoma semapv:UnspecifiedMatching MONDO:0003572 nasopharyngeal type undifferentiated carcinoma skos:exactMatch NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma semapv:UnspecifiedMatching MONDO:0003573 pleomorphic carcinoma skos:exactMatch DOID:5662 pleomorphic carcinoma semapv:UnspecifiedMatching MONDO:0003573 pleomorphic carcinoma skos:exactMatch NCIT:C4094 Pleomorphic Carcinoma semapv:UnspecifiedMatching MONDO:0003573 pleomorphic carcinoma skos:exactMatch UMLS:C0334233 semapv:UnspecifiedMatching MONDO:0003574 external ear cancer skos:exactMatch DOID:5665 external ear cancer semapv:UnspecifiedMatching MONDO:0003574 external ear cancer skos:exactMatch NCIT:C4653 Malignant External Ear Neoplasm semapv:UnspecifiedMatching MONDO:0003574 external ear cancer skos:exactMatch SCTID:277156006 semapv:UnspecifiedMatching MONDO:0003574 external ear cancer skos:exactMatch UMLS:C0349576 semapv:UnspecifiedMatching MONDO:0003575 comedocarcinoma skos:exactMatch DOID:5670 comedo carcinoma semapv:UnspecifiedMatching MONDO:0003575 comedocarcinoma skos:exactMatch NCIT:C4188 Comedo-Type Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003575 comedocarcinoma skos:exactMatch UMLS:C0334370 semapv:UnspecifiedMatching MONDO:0003578 extragonadal nonseminomatous germ cell tumor skos:exactMatch DOID:5677 malignant extragonadal nonseminomatous germ cell tumor semapv:UnspecifiedMatching MONDO:0003578 extragonadal nonseminomatous germ cell tumor skos:exactMatch NCIT:C8885 Malignant Extragonadal Nongerminomatous Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003578 extragonadal nonseminomatous germ cell tumor skos:exactMatch UMLS:C1334582 semapv:UnspecifiedMatching MONDO:0003579 retinal nerve fiber layer disorder skos:exactMatch DOID:5678 nerve fibre bundle defect semapv:UnspecifiedMatching MONDO:0003579 retinal nerve fiber layer disorder skos:exactMatch SCTID:193428001 semapv:UnspecifiedMatching MONDO:0003579 retinal nerve fiber layer disorder skos:exactMatch UMLS:C3665426 semapv:UnspecifiedMatching MONDO:0003581 ovarian embryonal carcinoma skos:exactMatch DOID:5681 ovarian embryonal carcinoma semapv:UnspecifiedMatching MONDO:0003581 ovarian embryonal carcinoma skos:exactMatch NCIT:C8108 Ovarian Embryonal Carcinoma semapv:UnspecifiedMatching MONDO:0003581 ovarian embryonal carcinoma skos:exactMatch SCTID:254872007 semapv:UnspecifiedMatching MONDO:0003581 ovarian embryonal carcinoma skos:exactMatch UMLS:C0346183 semapv:UnspecifiedMatching MONDO:0003582 hereditary breast ovarian cancer syndrome skos:exactMatch DOID:5683 hereditary breast ovarian cancer syndrome semapv:UnspecifiedMatching MONDO:0003582 hereditary breast ovarian cancer syndrome skos:exactMatch NCIT:C8493 BRCA1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome semapv:UnspecifiedMatching MONDO:0003582 hereditary breast ovarian cancer syndrome skos:exactMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:UnspecifiedMatching MONDO:0003582 hereditary breast ovarian cancer syndrome skos:exactMatch SCTID:718220008 semapv:UnspecifiedMatching MONDO:0003582 hereditary breast ovarian cancer syndrome skos:exactMatch UMLS:C0677776 semapv:UnspecifiedMatching MONDO:0003582 hereditary breast ovarian cancer syndrome skos:exactMatch mesh:D061325 semapv:UnspecifiedMatching MONDO:0003584 visual cortex disorder skos:exactMatch DOID:5691 visual cortex disease semapv:UnspecifiedMatching MONDO:0003584 visual cortex disorder skos:exactMatch ICD10CM:H47.6 Disorders of visual cortex semapv:UnspecifiedMatching MONDO:0003584 visual cortex disorder skos:exactMatch SCTID:128329001 semapv:UnspecifiedMatching MONDO:0003584 visual cortex disorder skos:exactMatch UMLS:C0234398 semapv:UnspecifiedMatching MONDO:0003585 adult liposarcoma skos:exactMatch DOID:5693 adult liposarcoma semapv:UnspecifiedMatching MONDO:0003585 adult liposarcoma skos:exactMatch NCIT:C7811 Adult Liposarcoma semapv:UnspecifiedMatching MONDO:0003585 adult liposarcoma skos:exactMatch UMLS:C0278608 semapv:UnspecifiedMatching MONDO:0003586 esophagus liposarcoma skos:exactMatch DOID:5694 esophagus liposarcoma semapv:UnspecifiedMatching MONDO:0003586 esophagus liposarcoma skos:exactMatch NCIT:C5705 Esophageal Liposarcoma semapv:UnspecifiedMatching MONDO:0003586 esophagus liposarcoma skos:exactMatch UMLS:C1333456 semapv:UnspecifiedMatching MONDO:0003587 pediatric liposarcoma skos:exactMatch DOID:5695 childhood liposarcoma semapv:UnspecifiedMatching MONDO:0003587 pediatric liposarcoma skos:exactMatch NCIT:C8091 Childhood Liposarcoma semapv:UnspecifiedMatching MONDO:0003587 pediatric liposarcoma skos:exactMatch UMLS:C0279984 semapv:UnspecifiedMatching MONDO:0003588 larynx liposarcoma skos:exactMatch DOID:5696 larynx liposarcoma semapv:UnspecifiedMatching MONDO:0003588 larynx liposarcoma skos:exactMatch NCIT:C6021 Laryngeal Liposarcoma semapv:UnspecifiedMatching MONDO:0003588 larynx liposarcoma skos:exactMatch UMLS:C1334372 semapv:UnspecifiedMatching MONDO:0003589 liposarcoma of the ovary skos:exactMatch DOID:5697 liposarcoma of the ovary semapv:UnspecifiedMatching MONDO:0003589 liposarcoma of the ovary skos:exactMatch NCIT:C6419 Ovarian Liposarcoma semapv:UnspecifiedMatching MONDO:0003589 liposarcoma of the ovary skos:exactMatch UMLS:C1335165 semapv:UnspecifiedMatching MONDO:0003590 fibroblastic liposarcoma skos:exactMatch DOID:5698 fibroblastic liposarcoma semapv:UnspecifiedMatching MONDO:0003590 fibroblastic liposarcoma skos:exactMatch NCIT:C6509 Fibroblastic Liposarcoma semapv:UnspecifiedMatching MONDO:0003590 fibroblastic liposarcoma skos:exactMatch UMLS:C1266130 semapv:UnspecifiedMatching MONDO:0003591 kidney liposarcoma skos:exactMatch DOID:5699 kidney liposarcoma semapv:UnspecifiedMatching MONDO:0003591 kidney liposarcoma skos:exactMatch NCIT:C6185 Kidney Liposarcoma semapv:UnspecifiedMatching MONDO:0003591 kidney liposarcoma skos:exactMatch UMLS:C1335745 semapv:UnspecifiedMatching MONDO:0003592 gastric liposarcoma skos:exactMatch DOID:5700 gastric liposarcoma semapv:UnspecifiedMatching MONDO:0003592 gastric liposarcoma skos:exactMatch NCIT:C5488 Gastric Liposarcoma semapv:UnspecifiedMatching MONDO:0003592 gastric liposarcoma skos:exactMatch UMLS:C1333778 semapv:UnspecifiedMatching MONDO:0003593 breast liposarcoma skos:exactMatch DOID:5701 breast liposarcoma semapv:UnspecifiedMatching MONDO:0003593 breast liposarcoma skos:exactMatch NCIT:C5187 Breast Liposarcoma semapv:UnspecifiedMatching MONDO:0003593 breast liposarcoma skos:exactMatch UMLS:C1332632 semapv:UnspecifiedMatching MONDO:0003594 mixed liposarcoma skos:exactMatch DOID:5703 mixed liposarcoma semapv:UnspecifiedMatching MONDO:0003594 mixed liposarcoma skos:exactMatch NCIT:C4253 Mixed Liposarcoma semapv:UnspecifiedMatching MONDO:0003594 mixed liposarcoma skos:exactMatch UMLS:C0334472 semapv:UnspecifiedMatching MONDO:0003595 sclerosing liposarcoma skos:exactMatch DOID:5704 sclerosing liposarcoma semapv:UnspecifiedMatching MONDO:0003595 sclerosing liposarcoma skos:exactMatch NCIT:C6507 Sclerosing Atypical Lipomatous Tumor/Well Differentiated Liposarcoma semapv:UnspecifiedMatching MONDO:0003595 sclerosing liposarcoma skos:exactMatch SCTID:404068003 semapv:UnspecifiedMatching MONDO:0003595 sclerosing liposarcoma skos:exactMatch UMLS:C0334469 semapv:UnspecifiedMatching MONDO:0003596 spindle cell liposarcoma skos:exactMatch DOID:5705 spindle cell liposarcoma semapv:UnspecifiedMatching MONDO:0003596 spindle cell liposarcoma skos:exactMatch NCIT:C27489 Atypical Spindle Cell/Pleomorphic Lipomatous Tumor semapv:UnspecifiedMatching MONDO:0003596 spindle cell liposarcoma skos:exactMatch SCTID:404073009 semapv:UnspecifiedMatching MONDO:0003596 spindle cell liposarcoma skos:exactMatch UMLS:C1275275 semapv:UnspecifiedMatching MONDO:0003598 median nerve neuropathy skos:exactMatch DOID:571 median neuropathy semapv:UnspecifiedMatching MONDO:0003598 median nerve neuropathy skos:exactMatch SCTID:397828008 semapv:UnspecifiedMatching MONDO:0003598 median nerve neuropathy skos:exactMatch mesh:D020423 semapv:UnspecifiedMatching MONDO:0003599 vulvar liposarcoma skos:exactMatch DOID:5711 vulvar liposarcoma semapv:UnspecifiedMatching MONDO:0003599 vulvar liposarcoma skos:exactMatch NCIT:C40321 Vulvar Liposarcoma semapv:UnspecifiedMatching MONDO:0003599 vulvar liposarcoma skos:exactMatch UMLS:C2184082 semapv:UnspecifiedMatching MONDO:0003600 cutaneous liposarcoma skos:exactMatch DOID:5712 cutaneous liposarcoma semapv:UnspecifiedMatching MONDO:0003600 cutaneous liposarcoma skos:exactMatch NCIT:C5615 Skin Liposarcoma semapv:UnspecifiedMatching MONDO:0003600 cutaneous liposarcoma skos:exactMatch UMLS:C1333175 semapv:UnspecifiedMatching MONDO:0003601 mediastinum liposarcoma skos:exactMatch DOID:5713 mediastinum liposarcoma semapv:UnspecifiedMatching MONDO:0003601 mediastinum liposarcoma skos:exactMatch NCIT:C6614 Mediastinal Liposarcoma semapv:UnspecifiedMatching MONDO:0003601 mediastinum liposarcoma skos:exactMatch UMLS:C1334663 semapv:UnspecifiedMatching MONDO:0003602 intracranial liposarcoma skos:exactMatch DOID:5714 intracranial liposarcoma semapv:UnspecifiedMatching MONDO:0003602 intracranial liposarcoma skos:exactMatch NCIT:C6973 Brain Liposarcoma semapv:UnspecifiedMatching MONDO:0003602 intracranial liposarcoma skos:exactMatch UMLS:C1334242 semapv:UnspecifiedMatching MONDO:0003603 non-functioning pituitary gland neoplasm skos:exactMatch SCTID:448563005 semapv:UnspecifiedMatching MONDO:0003604 functioning pituitary gland neoplasm skos:exactMatch DOID:5716 hormone producing pituitary cancer semapv:UnspecifiedMatching MONDO:0003604 functioning pituitary gland neoplasm skos:exactMatch SCTID:448148000 semapv:UnspecifiedMatching MONDO:0003604 functioning pituitary gland neoplasm skos:exactMatch UMLS:C0851693 semapv:UnspecifiedMatching MONDO:0003606 adrenal medulla cancer skos:exactMatch DOID:5719 adrenal medulla cancer semapv:UnspecifiedMatching MONDO:0003606 adrenal medulla cancer skos:exactMatch NCIT:C4396 Malignant Adrenal Medulla Neoplasm semapv:UnspecifiedMatching MONDO:0003606 adrenal medulla cancer skos:exactMatch SCTID:371965009 semapv:UnspecifiedMatching MONDO:0003606 adrenal medulla cancer skos:exactMatch UMLS:C0344456 semapv:UnspecifiedMatching MONDO:0003607 neuritis of upper limb skos:exactMatch DOID:572 mononeuritis of upper limb and mononeuritis multiplex semapv:UnspecifiedMatching MONDO:0003608 optic atrophy skos:exactMatch DOID:5723 optic atrophy semapv:UnspecifiedMatching MONDO:0003608 optic atrophy skos:exactMatch ICD10CM:H47.2 Optic atrophy semapv:UnspecifiedMatching MONDO:0003608 optic atrophy skos:exactMatch NCIT:C34863 Optic Atrophy semapv:UnspecifiedMatching MONDO:0003608 optic atrophy skos:exactMatch SCTID:76976005 semapv:UnspecifiedMatching MONDO:0003608 optic atrophy skos:exactMatch UMLS:C0029124 semapv:UnspecifiedMatching MONDO:0003608 optic atrophy skos:exactMatch mesh:D009896 semapv:UnspecifiedMatching MONDO:0003609 seminal vesicle cystadenoma skos:exactMatch DOID:5724 seminal vesicle cystadenoma semapv:UnspecifiedMatching MONDO:0003609 seminal vesicle cystadenoma skos:exactMatch NCIT:C39907 Seminal Vesicle Cystadenoma semapv:UnspecifiedMatching MONDO:0003609 seminal vesicle cystadenoma skos:exactMatch UMLS:C1519234 semapv:UnspecifiedMatching MONDO:0003610 rete ovarii cystadenoma skos:exactMatch DOID:5725 rete ovarii cystadenoma semapv:UnspecifiedMatching MONDO:0003610 rete ovarii cystadenoma skos:exactMatch NCIT:C40019 Rete Ovarii Cystadenoma semapv:UnspecifiedMatching MONDO:0003610 rete ovarii cystadenoma skos:exactMatch UMLS:C1514907 semapv:UnspecifiedMatching MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease skos:exactMatch DOID:5726 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease semapv:UnspecifiedMatching MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease skos:exactMatch NCIT:C40142 Uterine Ligament Papillary Cystadenoma Associated with von Hippel-Lindau Disease semapv:UnspecifiedMatching MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease skos:exactMatch UMLS:C3642324 semapv:UnspecifiedMatching MONDO:0003612 uterine ligament cancer skos:exactMatch DOID:5727 uterine ligament cancer semapv:UnspecifiedMatching MONDO:0003612 uterine ligament cancer skos:exactMatch NCIT:C126498 Malignant Uterine Ligament Neoplasm semapv:UnspecifiedMatching MONDO:0003612 uterine ligament cancer skos:exactMatch UMLS:C0864950 semapv:UnspecifiedMatching MONDO:0003614 intravenous leiomyomatosis skos:exactMatch DOID:5729 intravenous leiomyomatosis semapv:UnspecifiedMatching MONDO:0003614 intravenous leiomyomatosis skos:exactMatch NCIT:C4518 Intravenous Leiomyomatosis semapv:UnspecifiedMatching MONDO:0003614 intravenous leiomyomatosis skos:exactMatch SCTID:254883003 semapv:UnspecifiedMatching MONDO:0003614 intravenous leiomyomatosis skos:exactMatch UMLS:C0346200 semapv:UnspecifiedMatching MONDO:0003615 nerve compression syndrome skos:exactMatch DOID:573 nerve compression syndrome semapv:UnspecifiedMatching MONDO:0003615 nerve compression syndrome skos:exactMatch NCIT:C27221 Entrapment Neuropathy semapv:UnspecifiedMatching MONDO:0003615 nerve compression syndrome skos:exactMatch SCTID:45781009 semapv:UnspecifiedMatching MONDO:0003615 nerve compression syndrome skos:exactMatch mesh:D009408 semapv:UnspecifiedMatching MONDO:0003616 salpingitis isthmica nodosa skos:exactMatch DOID:5730 salpingitis isthmica nodosa semapv:UnspecifiedMatching MONDO:0003616 salpingitis isthmica nodosa skos:exactMatch NCIT:C40119 Salpingitis Isthmica Nodosa semapv:UnspecifiedMatching MONDO:0003616 salpingitis isthmica nodosa skos:exactMatch SCTID:36742000 semapv:UnspecifiedMatching MONDO:0003616 salpingitis isthmica nodosa skos:exactMatch UMLS:C0269043 semapv:UnspecifiedMatching MONDO:0003617 chronic salpingitis skos:exactMatch DOID:5731 chronic salpingitis semapv:UnspecifiedMatching MONDO:0003617 chronic salpingitis skos:exactMatch ICD10CM:N70.11 Chronic salpingitis semapv:UnspecifiedMatching MONDO:0003617 chronic salpingitis skos:exactMatch NCIT:C40118 Chronic Salpingitis semapv:UnspecifiedMatching MONDO:0003617 chronic salpingitis skos:exactMatch SCTID:55551005 semapv:UnspecifiedMatching MONDO:0003617 chronic salpingitis skos:exactMatch UMLS:C0269041 semapv:UnspecifiedMatching MONDO:0003618 pyosalpinx skos:exactMatch DOID:5732 pyosalpinx semapv:UnspecifiedMatching MONDO:0003618 pyosalpinx skos:exactMatch NCIT:C34968 Pyosalpinx semapv:UnspecifiedMatching MONDO:0003618 pyosalpinx skos:exactMatch SCTID:397810006 semapv:UnspecifiedMatching MONDO:0003618 pyosalpinx skos:exactMatch UMLS:C0034220 semapv:UnspecifiedMatching MONDO:0003619 salpingitis skos:exactMatch DOID:5733 salpingitis semapv:UnspecifiedMatching MONDO:0003619 salpingitis skos:exactMatch NCIT:C26880 Salpingitis semapv:UnspecifiedMatching MONDO:0003619 salpingitis skos:exactMatch SCTID:88157006 semapv:UnspecifiedMatching MONDO:0003619 salpingitis skos:exactMatch UMLS:C0036130 semapv:UnspecifiedMatching MONDO:0003619 salpingitis skos:exactMatch mesh:D012488 semapv:UnspecifiedMatching MONDO:0003620 peripheral nervous system disorder skos:exactMatch DOID:574 peripheral nervous system disease semapv:UnspecifiedMatching MONDO:0003620 peripheral nervous system disorder skos:exactMatch NCIT:C27580 Peripheral Nervous System Disorder semapv:UnspecifiedMatching MONDO:0003620 peripheral nervous system disorder skos:exactMatch SCTID:42658009 semapv:UnspecifiedMatching MONDO:0003620 peripheral nervous system disorder skos:exactMatch mesh:D010523 semapv:UnspecifiedMatching MONDO:0003621 small intestinal vasoactive intestinal peptide producing tumor skos:exactMatch DOID:5740 small intestinal vasoactive intestinal peptide producing tumor semapv:UnspecifiedMatching MONDO:0003621 small intestinal vasoactive intestinal peptide producing tumor skos:exactMatch NCIT:C27455 Small Intestinal VIP-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003621 small intestinal vasoactive intestinal peptide producing tumor skos:exactMatch UMLS:C1336009 semapv:UnspecifiedMatching MONDO:0003622 pancreatic vasoactive intestinal peptide producing tumor skos:exactMatch DOID:5741 pancreatic vasoactive intestinal peptide producing tumor semapv:UnspecifiedMatching MONDO:0003622 pancreatic vasoactive intestinal peptide producing tumor skos:exactMatch NCIT:C27454 Pancreatic VIP-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003622 pancreatic vasoactive intestinal peptide producing tumor skos:exactMatch UMLS:C2033037 semapv:UnspecifiedMatching MONDO:0003624 acinic cell breast carcinoma skos:exactMatch DOID:5743 acinic cell breast carcinoma semapv:UnspecifiedMatching MONDO:0003624 acinic cell breast carcinoma skos:exactMatch NCIT:C40367 Breast Acinic Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003624 acinic cell breast carcinoma skos:exactMatch UMLS:C1515868 semapv:UnspecifiedMatching MONDO:0003626 uterine ligament serous adenocarcinoma skos:exactMatch DOID:5747 uterine ligament serous adenocarcinoma semapv:UnspecifiedMatching MONDO:0003626 uterine ligament serous adenocarcinoma skos:exactMatch NCIT:C40136 Uterine Ligament Serous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003626 uterine ligament serous adenocarcinoma skos:exactMatch UMLS:C1519872 semapv:UnspecifiedMatching MONDO:0003627 rheumatic pulmonary valve disease skos:exactMatch DOID:5748 rheumatic pulmonary valve disease semapv:UnspecifiedMatching MONDO:0003627 rheumatic pulmonary valve disease skos:exactMatch SCTID:18687009 semapv:UnspecifiedMatching MONDO:0003627 rheumatic pulmonary valve disease skos:exactMatch UMLS:C0155579 semapv:UnspecifiedMatching MONDO:0003628 pulmonary valve disorder skos:exactMatch DOID:5749 pulmonary valve disease semapv:UnspecifiedMatching MONDO:0003628 pulmonary valve disorder skos:exactMatch NCIT:C78579 Pulmonary Valve Disorder semapv:UnspecifiedMatching MONDO:0003628 pulmonary valve disorder skos:exactMatch SCTID:76267008 semapv:UnspecifiedMatching MONDO:0003628 pulmonary valve disorder skos:exactMatch UMLS:C0034087 semapv:UnspecifiedMatching MONDO:0003629 uterine corpus serous adenocarcinoma skos:exactMatch DOID:5750 endometrial serous adenocarcinoma semapv:UnspecifiedMatching MONDO:0003630 pancreatic serous cystadenocarcinoma skos:exactMatch DOID:5751 pancreatic serous cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0003630 pancreatic serous cystadenocarcinoma skos:exactMatch NCIT:C5724 Pancreatic Serous Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0003630 pancreatic serous cystadenocarcinoma skos:exactMatch Orphanet:424073 Serous cystadenocarcinoma of pancreas semapv:UnspecifiedMatching MONDO:0003630 pancreatic serous cystadenocarcinoma skos:exactMatch UMLS:C1335315 semapv:UnspecifiedMatching MONDO:0003631 cervical serous adenocarcinoma skos:exactMatch DOID:5752 cervical serous adenocarcinoma semapv:UnspecifiedMatching MONDO:0003631 cervical serous adenocarcinoma skos:exactMatch NCIT:C40201 Cervical Serous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003631 cervical serous adenocarcinoma skos:exactMatch UMLS:C1516431 semapv:UnspecifiedMatching MONDO:0003632 endocervicitis skos:exactMatch DOID:5757 endocervicitis semapv:UnspecifiedMatching MONDO:0003632 endocervicitis skos:exactMatch NCIT:C26762 Endocervicitis semapv:UnspecifiedMatching MONDO:0003632 endocervicitis skos:exactMatch SCTID:31354001 semapv:UnspecifiedMatching MONDO:0003632 endocervicitis skos:exactMatch UMLS:C0014127 semapv:UnspecifiedMatching MONDO:0003633 malignant mesenchymoma skos:exactMatch DOID:5758 malignant mesenchymoma semapv:UnspecifiedMatching MONDO:0003633 malignant mesenchymoma skos:exactMatch NCIT:C4268 Malignant Mesenchymoma semapv:UnspecifiedMatching MONDO:0003634 proteinuria skos:exactMatch DOID:576 proteinuria semapv:UnspecifiedMatching MONDO:0003634 proteinuria skos:exactMatch ICD10CM:R80 Proteinuria semapv:UnspecifiedMatching MONDO:0003634 proteinuria skos:exactMatch mesh:D011507 semapv:UnspecifiedMatching MONDO:0003635 sebaceous breast carcinoma skos:exactMatch DOID:5760 sebaceous breast carcinoma semapv:UnspecifiedMatching MONDO:0003635 sebaceous breast carcinoma skos:exactMatch NCIT:C40369 Breast Sebaceous Carcinoma semapv:UnspecifiedMatching MONDO:0003635 sebaceous breast carcinoma skos:exactMatch UMLS:C1519207 semapv:UnspecifiedMatching MONDO:0003636 vulvar sebaceous carcinoma skos:exactMatch DOID:5761 vulvar sebaceous carcinoma semapv:UnspecifiedMatching MONDO:0003636 vulvar sebaceous carcinoma skos:exactMatch NCIT:C40309 Vulvar Sebaceous Carcinoma semapv:UnspecifiedMatching MONDO:0003636 vulvar sebaceous carcinoma skos:exactMatch UMLS:C1520094 semapv:UnspecifiedMatching MONDO:0003637 clear cell-sugar-tumor of the lung skos:exactMatch DOID:5763 lung clear cell-sugar-tumor semapv:UnspecifiedMatching MONDO:0003637 clear cell-sugar-tumor of the lung skos:exactMatch NCIT:C38152 Lung Clear Cell Tumor semapv:UnspecifiedMatching MONDO:0003637 clear cell-sugar-tumor of the lung skos:exactMatch UMLS:C1333065 semapv:UnspecifiedMatching MONDO:0003638 lung meningioma skos:exactMatch DOID:5764 lung meningioma semapv:UnspecifiedMatching MONDO:0003638 lung meningioma skos:exactMatch NCIT:C5668 Lung Meningioma semapv:UnspecifiedMatching MONDO:0003638 lung meningioma skos:exactMatch UMLS:C1334450 semapv:UnspecifiedMatching MONDO:0003639 lung hilum neoplasm skos:exactMatch DOID:5767 hilar lung neoplasm semapv:UnspecifiedMatching MONDO:0003639 lung hilum neoplasm skos:exactMatch NCIT:C5671 Lung Hilum Neoplasm semapv:UnspecifiedMatching MONDO:0003639 lung hilum neoplasm skos:exactMatch SCTID:126707007 semapv:UnspecifiedMatching MONDO:0003639 lung hilum neoplasm skos:exactMatch UMLS:C1290358 semapv:UnspecifiedMatching MONDO:0003640 verruciform xanthoma of skin skos:exactMatch DOID:5769 verruciform xanthoma of skin semapv:UnspecifiedMatching MONDO:0003640 verruciform xanthoma of skin skos:exactMatch NCIT:C4478 Cutaneous Verruciform Xanthoma semapv:UnspecifiedMatching MONDO:0003640 verruciform xanthoma of skin skos:exactMatch SCTID:254756007 semapv:UnspecifiedMatching MONDO:0003640 verruciform xanthoma of skin skos:exactMatch UMLS:C0346054 semapv:UnspecifiedMatching MONDO:0003641 central nervous system hematopoietic neoplasm skos:exactMatch DOID:5772 central nervous system hematologic cancer semapv:UnspecifiedMatching MONDO:0003641 central nervous system hematopoietic neoplasm skos:exactMatch NCIT:C5503 Central Nervous System Hematopoietic Neoplasm semapv:UnspecifiedMatching MONDO:0003641 central nervous system hematopoietic neoplasm skos:exactMatch UMLS:C1332882 semapv:UnspecifiedMatching MONDO:0003643 giant hemangioma skos:exactMatch DOID:5774 giant hemangioma semapv:UnspecifiedMatching MONDO:0003643 giant hemangioma skos:exactMatch NCIT:C27777 Giant Hemangioma semapv:UnspecifiedMatching MONDO:0003643 giant hemangioma skos:exactMatch UMLS:C1333817 semapv:UnspecifiedMatching MONDO:0003644 cavernous hemangioma of colon skos:exactMatch DOID:5775 cavernous hemangioma of colon semapv:UnspecifiedMatching MONDO:0003644 cavernous hemangioma of colon skos:exactMatch NCIT:C5395 Colon Cavernous Hemangioma semapv:UnspecifiedMatching MONDO:0003644 cavernous hemangioma of colon skos:exactMatch UMLS:C1333086 semapv:UnspecifiedMatching MONDO:0003645 cavernous hemangioma of face skos:exactMatch DOID:5776 cavernous hemangioma of face semapv:UnspecifiedMatching MONDO:0003645 cavernous hemangioma of face skos:exactMatch NCIT:C7053 Cavernous Hemangioma of the Face semapv:UnspecifiedMatching MONDO:0003645 cavernous hemangioma of face skos:exactMatch UMLS:C1332863 semapv:UnspecifiedMatching MONDO:0003646 rectum neuroendocrine neoplasm skos:exactMatch DOID:5777 rectum neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO:0003646 rectum neuroendocrine neoplasm skos:exactMatch NCIT:C5698 Rectal Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0003646 rectum neuroendocrine neoplasm skos:exactMatch Orphanet:100081 Neuroendocrine tumor of the rectum semapv:UnspecifiedMatching MONDO:0003647 atrophic flaccid tympanic membrane skos:exactMatch DOID:5781 atrophic flaccid tympanic membrane semapv:UnspecifiedMatching MONDO:0003647 atrophic flaccid tympanic membrane skos:exactMatch SCTID:38645004 semapv:UnspecifiedMatching MONDO:0003647 atrophic flaccid tympanic membrane skos:exactMatch UMLS:C0155470 semapv:UnspecifiedMatching MONDO:0003648 tympanic membrane disorder skos:exactMatch DOID:5782 tympanic membrane disease semapv:UnspecifiedMatching MONDO:0003648 tympanic membrane disorder skos:exactMatch SCTID:21426000 semapv:UnspecifiedMatching MONDO:0003648 tympanic membrane disorder skos:exactMatch UMLS:C0041825 semapv:UnspecifiedMatching MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch DOID:5784 esophageal neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch NCIT:C95616 Esophageal Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch Orphanet:506136 Neuroendocrine neoplasm of esophagus semapv:UnspecifiedMatching MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch UMLS:C2987260 semapv:UnspecifiedMatching MONDO:0003650 mixed hepatoblastoma skos:exactMatch DOID:5789 mixed hepatoblastoma semapv:UnspecifiedMatching MONDO:0003650 mixed hepatoblastoma skos:exactMatch NCIT:C7097 Mixed Epithelial and Mesenchymal Hepatoblastoma semapv:UnspecifiedMatching MONDO:0003650 mixed hepatoblastoma skos:exactMatch UMLS:C1334784 semapv:UnspecifiedMatching MONDO:0003651 macrotrabecular hepatoblastoma skos:exactMatch DOID:5798 macrotrabecular hepatoblastoma semapv:UnspecifiedMatching MONDO:0003651 macrotrabecular hepatoblastoma skos:exactMatch NCIT:C7095 Macrotrabecular Hepatoblastoma semapv:UnspecifiedMatching MONDO:0003651 macrotrabecular hepatoblastoma skos:exactMatch UMLS:C1334543 semapv:UnspecifiedMatching MONDO:0003652 acute urate nephropathy skos:exactMatch DOID:580 uric acid nephrolithiasis semapv:UnspecifiedMatching MONDO:0003652 acute urate nephropathy skos:exactMatch NCIT:C123037 Uric Acid Nephrolithiasis semapv:UnspecifiedMatching MONDO:0003652 acute urate nephropathy skos:exactMatch SCTID:236496000 semapv:UnspecifiedMatching MONDO:0003652 acute urate nephropathy skos:exactMatch UMLS:C0341712 semapv:UnspecifiedMatching MONDO:0003653 stork bite skos:exactMatch DOID:5806 stork bite semapv:UnspecifiedMatching MONDO:0003653 stork bite skos:exactMatch SCTID:254211001 semapv:UnspecifiedMatching MONDO:0003654 childhood parosteal osteosarcoma skos:exactMatch DOID:5809 childhood parosteal osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0003654 childhood parosteal osteosarcoma skos:exactMatch NCIT:C6589 Childhood Parosteal Osteosarcoma semapv:UnspecifiedMatching MONDO:0003654 childhood parosteal osteosarcoma skos:exactMatch UMLS:C1332994 semapv:UnspecifiedMatching MONDO:0003655 cerebral lymphoma skos:exactMatch DOID:5815 cerebral lymphoma semapv:UnspecifiedMatching MONDO:0003655 cerebral lymphoma skos:exactMatch NCIT:C7611 Cerebral Lymphoma semapv:UnspecifiedMatching MONDO:0003655 cerebral lymphoma skos:exactMatch SCTID:276836002 semapv:UnspecifiedMatching MONDO:0003655 cerebral lymphoma skos:exactMatch UMLS:C0240803 semapv:UnspecifiedMatching MONDO:0003656 hemoglobinuria skos:exactMatch DOID:582 hemoglobinuria semapv:UnspecifiedMatching MONDO:0003656 hemoglobinuria skos:exactMatch ICD10CM:R82.3 Hemoglobinuria semapv:UnspecifiedMatching MONDO:0003656 hemoglobinuria skos:exactMatch UMLS:C0019048 semapv:UnspecifiedMatching MONDO:0003656 hemoglobinuria skos:exactMatch mesh:D006456 semapv:UnspecifiedMatching MONDO:0003658 B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma skos:exactMatch DOID:5822 gray zone lymphoma semapv:UnspecifiedMatching MONDO:0003658 B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma skos:exactMatch NCIT:C37869 Gray-Zone Lymphoma semapv:UnspecifiedMatching MONDO:0003658 B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma skos:exactMatch UMLS:C1333878 semapv:UnspecifiedMatching MONDO:0003659 pediatric lymphoma skos:exactMatch DOID:5823 childhood lymphoma semapv:UnspecifiedMatching MONDO:0003659 pediatric lymphoma skos:exactMatch NCIT:C5165 Childhood Lymphoma semapv:UnspecifiedMatching MONDO:0003659 pediatric lymphoma skos:exactMatch UMLS:C1332979 semapv:UnspecifiedMatching MONDO:0003660 adult lymphoma skos:exactMatch DOID:5825 adult lymphoma semapv:UnspecifiedMatching MONDO:0003660 adult lymphoma skos:exactMatch NCIT:C7587 Adult Lymphoma semapv:UnspecifiedMatching MONDO:0003660 adult lymphoma skos:exactMatch UMLS:C1332206 semapv:UnspecifiedMatching MONDO:0003661 breast lymphoma skos:exactMatch DOID:5826 breast lymphoma semapv:UnspecifiedMatching MONDO:0003661 breast lymphoma skos:exactMatch NCIT:C4671 Breast Lymphoma semapv:UnspecifiedMatching MONDO:0003661 breast lymphoma skos:exactMatch SCTID:278052009 semapv:UnspecifiedMatching MONDO:0003661 breast lymphoma skos:exactMatch UMLS:C1704251 semapv:UnspecifiedMatching MONDO:0003663 uterine ligament endometrioid adenocarcinoma skos:exactMatch DOID:5829 uterine ligament endometrioid adenocarcinoma semapv:UnspecifiedMatching MONDO:0003663 uterine ligament endometrioid adenocarcinoma skos:exactMatch NCIT:C40138 Broad Ligament Endometrioid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003664 hemolytic anemia skos:exactMatch DOID:583 hemolytic anemia semapv:UnspecifiedMatching MONDO:0003664 hemolytic anemia skos:exactMatch ICD10CM:D55-D59 Hemolytic anemias (D55-D59) semapv:UnspecifiedMatching MONDO:0003664 hemolytic anemia skos:exactMatch NCIT:C34376 Hemolytic Anemia semapv:UnspecifiedMatching MONDO:0003664 hemolytic anemia skos:exactMatch SCTID:61261009 semapv:UnspecifiedMatching MONDO:0003664 hemolytic anemia skos:exactMatch mesh:D000743 semapv:UnspecifiedMatching MONDO:0003665 cervical endometrioid adenocarcinoma skos:exactMatch DOID:5830 cervical endometrioid adenocarcinoma semapv:UnspecifiedMatching MONDO:0003665 cervical endometrioid adenocarcinoma skos:exactMatch NCIT:C6343 Cervical Endometrioid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003665 cervical endometrioid adenocarcinoma skos:exactMatch UMLS:C1332913 semapv:UnspecifiedMatching MONDO:0003666 fallopian tube endometrioid adenocarcinoma skos:exactMatch DOID:5831 fallopian tube endometrioid adenocarcinoma semapv:UnspecifiedMatching MONDO:0003666 fallopian tube endometrioid adenocarcinoma skos:exactMatch NCIT:C6279 Fallopian Tube Endometrioid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003666 fallopian tube endometrioid adenocarcinoma skos:exactMatch UMLS:C1333592 semapv:UnspecifiedMatching MONDO:0003668 extragonadal seminoma skos:exactMatch DOID:5838 extragonadal seminoma semapv:UnspecifiedMatching MONDO:0003668 extragonadal seminoma skos:exactMatch NCIT:C7327 Extragonadal Seminoma semapv:UnspecifiedMatching MONDO:0003668 extragonadal seminoma skos:exactMatch UMLS:C1333502 semapv:UnspecifiedMatching MONDO:0003669 testicular seminoma skos:exactMatch DOID:5842 testis seminoma semapv:UnspecifiedMatching MONDO:0003669 testicular seminoma skos:exactMatch NCIT:C7328 Testicular Seminoma semapv:UnspecifiedMatching MONDO:0003669 testicular seminoma skos:exactMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:UnspecifiedMatching MONDO:0003669 testicular seminoma skos:exactMatch SCTID:255107005 semapv:UnspecifiedMatching MONDO:0003670 posteroinferior myocardial infarction skos:exactMatch DOID:5843 posteroinferior myocardial infarction semapv:UnspecifiedMatching MONDO:0003671 septal myocardial infarction skos:exactMatch DOID:5846 septal myocardial infarction semapv:UnspecifiedMatching MONDO:0003672 posterior myocardial infarction skos:exactMatch DOID:5847 posterior myocardial infarction semapv:UnspecifiedMatching MONDO:0003672 posterior myocardial infarction skos:exactMatch SCTID:194802003 semapv:UnspecifiedMatching MONDO:0003672 posterior myocardial infarction skos:exactMatch UMLS:C0264706 semapv:UnspecifiedMatching MONDO:0003673 apical myocardial infarction skos:exactMatch DOID:5848 apical myocardial infarction semapv:UnspecifiedMatching MONDO:0003674 subendocardial myocardial infarction skos:exactMatch DOID:5849 subendocardial myocardial infarction semapv:UnspecifiedMatching MONDO:0003674 subendocardial myocardial infarction skos:exactMatch UMLS:C0262568 semapv:UnspecifiedMatching MONDO:0003675 posterolateral myocardial infarction skos:exactMatch DOID:5851 posterolateral myocardial infarction semapv:UnspecifiedMatching MONDO:0003676 inferolateral myocardial infarct skos:exactMatch DOID:5852 inferolateral myocardial infarct semapv:UnspecifiedMatching MONDO:0003677 lateral myocardial infarction skos:exactMatch DOID:5853 lateral myocardial infarction semapv:UnspecifiedMatching MONDO:0003678 silent myocardial infarction skos:exactMatch DOID:5854 silent myocardial infarction semapv:UnspecifiedMatching MONDO:0003678 silent myocardial infarction skos:exactMatch NCIT:C35400 Silent Myocardial Infarction semapv:UnspecifiedMatching MONDO:0003678 silent myocardial infarction skos:exactMatch SCTID:233843008 semapv:UnspecifiedMatching MONDO:0003678 silent myocardial infarction skos:exactMatch UMLS:C0340324 semapv:UnspecifiedMatching MONDO:0003679 anteroseptal myocardial infarction skos:exactMatch DOID:5855 anteroseptal myocardial infarction semapv:UnspecifiedMatching MONDO:0003679 anteroseptal myocardial infarction skos:exactMatch UMLS:C0262565 semapv:UnspecifiedMatching MONDO:0003680 periosteal chondrosarcoma skos:exactMatch DOID:5859 periosteal chondrosarcoma semapv:UnspecifiedMatching MONDO:0003680 periosteal chondrosarcoma skos:exactMatch DOID:5866 juxtacortical chondrosarcoma semapv:UnspecifiedMatching MONDO:0003680 periosteal chondrosarcoma skos:exactMatch NCIT:C7357 Periosteal Chondrosarcoma semapv:UnspecifiedMatching MONDO:0003680 periosteal chondrosarcoma skos:exactMatch UMLS:C0334549 semapv:UnspecifiedMatching MONDO:0003681 myxoid chondrosarcoma skos:exactMatch DOID:5861 myxoid chondrosarcoma semapv:UnspecifiedMatching MONDO:0003681 myxoid chondrosarcoma skos:exactMatch UMLS:C0334551 semapv:UnspecifiedMatching MONDO:0003682 localized chondrosarcoma skos:exactMatch DOID:5862 localized chondrosarcoma semapv:UnspecifiedMatching MONDO:0003682 localized chondrosarcoma skos:exactMatch NCIT:C8778 Localized Chondrosarcoma semapv:UnspecifiedMatching MONDO:0003682 localized chondrosarcoma skos:exactMatch UMLS:C0855011 semapv:UnspecifiedMatching MONDO:0003684 clear cell chondrosarcoma skos:exactMatch DOID:5867 clear cell chondrosarcoma semapv:UnspecifiedMatching MONDO:0003684 clear cell chondrosarcoma skos:exactMatch NCIT:C6475 Clear Cell Chondrosarcoma semapv:UnspecifiedMatching MONDO:0003684 clear cell chondrosarcoma skos:exactMatch UMLS:C1266167 semapv:UnspecifiedMatching MONDO:0003685 retroperitoneal germ cell neoplasm skos:exactMatch DOID:5874 retroperitoneal germ cell neoplasm semapv:UnspecifiedMatching MONDO:0003685 retroperitoneal germ cell neoplasm skos:exactMatch NCIT:C6447 Retroperitoneal Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003685 retroperitoneal germ cell neoplasm skos:exactMatch UMLS:C1335776 semapv:UnspecifiedMatching MONDO:0003686 apocrine sweat gland neoplasm skos:exactMatch DOID:5876 apocrine sweat gland neoplasm semapv:UnspecifiedMatching MONDO:0003686 apocrine sweat gland neoplasm skos:exactMatch NCIT:C6798 Apocrine Neoplasm semapv:UnspecifiedMatching MONDO:0003686 apocrine sweat gland neoplasm skos:exactMatch UMLS:C1332318 semapv:UnspecifiedMatching MONDO:0003687 endocardium cancer skos:exactMatch DOID:5877 endocardium cancer semapv:UnspecifiedMatching MONDO:0003687 endocardium cancer skos:exactMatch NCIT:C4570 Malignant Endocardial Neoplasm semapv:UnspecifiedMatching MONDO:0003687 endocardium cancer skos:exactMatch SCTID:363436001 semapv:UnspecifiedMatching MONDO:0003687 endocardium cancer skos:exactMatch UMLS:C0346612 semapv:UnspecifiedMatching MONDO:0003688 well differentiated papillary mesothelioma skos:exactMatch DOID:5884 benign intermediate mesothelioma semapv:UnspecifiedMatching MONDO:0003688 well differentiated papillary mesothelioma skos:exactMatch NCIT:C7635 Well Differentiated Papillary Mesothelial Tumor semapv:UnspecifiedMatching MONDO:0003688 well differentiated papillary mesothelioma skos:exactMatch UMLS:C1337012 semapv:UnspecifiedMatching MONDO:0003689 familial hemolytic anemia skos:exactMatch DOID:589 congenital hemolytic anemia semapv:UnspecifiedMatching MONDO:0003689 familial hemolytic anemia skos:exactMatch NCIT:C34379 Hereditary Hemolytic Anemia semapv:UnspecifiedMatching MONDO:0003689 familial hemolytic anemia skos:exactMatch SCTID:42601008 semapv:UnspecifiedMatching MONDO:0003689 familial hemolytic anemia skos:exactMatch mesh:D000745 semapv:UnspecifiedMatching MONDO:0003690 adult anaplastic ependymoma skos:exactMatch DOID:5890 malignant adult ependymoma semapv:UnspecifiedMatching MONDO:0003690 adult anaplastic ependymoma skos:exactMatch NCIT:C8269 Adult Anaplastic Ependymoma semapv:UnspecifiedMatching MONDO:0003690 adult anaplastic ependymoma skos:exactMatch UMLS:C0280787 semapv:UnspecifiedMatching MONDO:0003691 childhood malignant mesenchymoma skos:exactMatch DOID:5893 childhood malignant mesenchymoma semapv:UnspecifiedMatching MONDO:0003691 childhood malignant mesenchymoma skos:exactMatch NCIT:C8097 Childhood Malignant Mesenchymoma semapv:UnspecifiedMatching MONDO:0003691 childhood malignant mesenchymoma skos:exactMatch UMLS:C0279991 semapv:UnspecifiedMatching MONDO:0003692 adult malignant mesenchymoma skos:exactMatch DOID:5894 adult malignant mesenchymoma semapv:UnspecifiedMatching MONDO:0003692 adult malignant mesenchymoma skos:exactMatch NCIT:C7947 Adult Malignant Mesenchymoma semapv:UnspecifiedMatching MONDO:0003692 adult malignant mesenchymoma skos:exactMatch UMLS:C0279548 semapv:UnspecifiedMatching MONDO:0003693 clear cell cystadenofibroma skos:exactMatch DOID:5895 clear cell cystadenofibroma semapv:UnspecifiedMatching MONDO:0003693 clear cell cystadenofibroma skos:exactMatch NCIT:C8988 Clear Cell Cystadenofibroma semapv:UnspecifiedMatching MONDO:0003693 clear cell cystadenofibroma skos:exactMatch UMLS:C1377853 semapv:UnspecifiedMatching MONDO:0003694 ovarian clear cell cystadenofibroma skos:exactMatch DOID:5896 ovarian clear cell cystadenofibroma semapv:UnspecifiedMatching MONDO:0003694 ovarian clear cell cystadenofibroma skos:exactMatch NCIT:C40086 Ovarian Clear Cell Cystadenofibroma semapv:UnspecifiedMatching MONDO:0003694 ovarian clear cell cystadenofibroma skos:exactMatch UMLS:C1518695 semapv:UnspecifiedMatching MONDO:0003695 ovarian clear cell adenofibroma skos:exactMatch DOID:5897 ovarian clear cell adenofibroma semapv:UnspecifiedMatching MONDO:0003695 ovarian clear cell adenofibroma skos:exactMatch NCIT:C40085 Ovarian Clear Cell Adenofibroma semapv:UnspecifiedMatching MONDO:0003695 ovarian clear cell adenofibroma skos:exactMatch UMLS:C1518694 semapv:UnspecifiedMatching MONDO:0003697 non-invasive verrucous carcinoma of the penis skos:exactMatch DOID:5907 penis non-invasive verrucous carcinoma semapv:UnspecifiedMatching MONDO:0003697 non-invasive verrucous carcinoma of the penis skos:exactMatch NCIT:C27791 Non-Invasive Verrucous Carcinoma of the Penis semapv:UnspecifiedMatching MONDO:0003697 non-invasive verrucous carcinoma of the penis skos:exactMatch UMLS:C1334984 semapv:UnspecifiedMatching MONDO:0003698 penis verrucous carcinoma skos:exactMatch DOID:5908 penis verrucous carcinoma semapv:UnspecifiedMatching MONDO:0003698 penis verrucous carcinoma skos:exactMatch NCIT:C6982 Penile Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0003698 penis verrucous carcinoma skos:exactMatch UMLS:C1336955 semapv:UnspecifiedMatching MONDO:0003699 phobic disorder skos:exactMatch DOID:591 phobic disorder semapv:UnspecifiedMatching MONDO:0003699 phobic disorder skos:exactMatch NCIT:C35420 Phobia semapv:UnspecifiedMatching MONDO:0003699 phobic disorder skos:exactMatch SCTID:386810004 semapv:UnspecifiedMatching MONDO:0003699 phobic disorder skos:exactMatch mesh:D010698 semapv:UnspecifiedMatching MONDO:0003700 brachial plexus neoplasm skos:exactMatch DOID:5913 brachial plexus neoplasm semapv:UnspecifiedMatching MONDO:0003700 brachial plexus neoplasm skos:exactMatch NCIT:C5823 Brachial Plexus Neoplasm semapv:UnspecifiedMatching MONDO:0003700 brachial plexus neoplasm skos:exactMatch UMLS:C1332602 semapv:UnspecifiedMatching MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma skos:exactMatch DOID:5914 nonencapsulated sclerosing carcinoma semapv:UnspecifiedMatching MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma skos:exactMatch NCIT:C7427 Diffuse Sclerosing Variant Thyroid Gland Papillary Carcinoma semapv:UnspecifiedMatching MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma skos:exactMatch UMLS:C0334330 semapv:UnspecifiedMatching MONDO:0003702 uterus intravascular leiomyomatosis skos:exactMatch DOID:5915 uterus intravascular leiomyomatosis semapv:UnspecifiedMatching MONDO:0003702 uterus intravascular leiomyomatosis skos:exactMatch NCIT:C5356 Uterine Corpus Intravenous Leiomyomatosis semapv:UnspecifiedMatching MONDO:0003704 uterine corpus diffuse leiomyomatosis skos:exactMatch DOID:5916 uterine corpus leiomyomatosis semapv:UnspecifiedMatching MONDO:0003704 uterine corpus diffuse leiomyomatosis skos:exactMatch DOID:5917 uterine corpus diffuse leiomyomatosis semapv:UnspecifiedMatching MONDO:0003704 uterine corpus diffuse leiomyomatosis skos:exactMatch NCIT:C40170 Uterine Corpus Diffuse Leiomyomatosis semapv:UnspecifiedMatching MONDO:0003704 uterine corpus diffuse leiomyomatosis skos:exactMatch UMLS:C1519855 semapv:UnspecifiedMatching MONDO:0003705 adult brainstem mixed glioma skos:exactMatch DOID:5921 adult brainstem mixed glioma semapv:UnspecifiedMatching MONDO:0003705 adult brainstem mixed glioma skos:exactMatch NCIT:C9371 Adult Brain Stem Mixed Glioma semapv:UnspecifiedMatching MONDO:0003705 adult brainstem mixed glioma skos:exactMatch UMLS:C1377915 semapv:UnspecifiedMatching MONDO:0003706 adult brainstem astrocytoma skos:exactMatch DOID:5922 adult brainstem astrocytoma semapv:UnspecifiedMatching MONDO:0003706 adult brainstem astrocytoma skos:exactMatch NCIT:C6954 Adult Brain Stem Astrocytoma semapv:UnspecifiedMatching MONDO:0003706 adult brainstem astrocytoma skos:exactMatch UMLS:C1332191 semapv:UnspecifiedMatching MONDO:0003707 distal biliary tract carcinoma skos:exactMatch DOID:5923 distal biliary tract carcinoma semapv:UnspecifiedMatching MONDO:0003707 distal biliary tract carcinoma skos:exactMatch NCIT:C7109 Distal Bile Duct Carcinoma semapv:UnspecifiedMatching MONDO:0003707 distal biliary tract carcinoma skos:exactMatch UMLS:C1333308 semapv:UnspecifiedMatching MONDO:0003708 extrahepatic bile duct small cell adenocarcinoma skos:exactMatch DOID:5926 extrahepatic bile duct small cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0003708 extrahepatic bile duct small cell adenocarcinoma skos:exactMatch NCIT:C5845 Extrahepatic Bile Duct Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0003708 extrahepatic bile duct small cell adenocarcinoma skos:exactMatch UMLS:C1335979 semapv:UnspecifiedMatching MONDO:0003709 agoraphobia skos:exactMatch DOID:593 agoraphobia semapv:UnspecifiedMatching MONDO:0003709 agoraphobia skos:exactMatch ICD10CM:F40.0 Agoraphobia semapv:UnspecifiedMatching MONDO:0003709 agoraphobia skos:exactMatch NCIT:C34362 Agoraphobia semapv:UnspecifiedMatching MONDO:0003709 agoraphobia skos:exactMatch SCTID:70691001 semapv:UnspecifiedMatching MONDO:0003709 agoraphobia skos:exactMatch mesh:D000379 semapv:UnspecifiedMatching MONDO:0003710 ovarian mixed germ cell neoplasm skos:exactMatch DOID:5936 ovarian mixed germ cell neoplasm semapv:UnspecifiedMatching MONDO:0003710 ovarian mixed germ cell neoplasm skos:exactMatch NCIT:C8114 Ovarian Mixed Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003710 ovarian mixed germ cell neoplasm skos:exactMatch UMLS:C0280135 semapv:UnspecifiedMatching MONDO:0003712 angiokeratoma of mibelli skos:exactMatch DOID:5948 angiokeratoma of mibelli semapv:UnspecifiedMatching MONDO:0003712 angiokeratoma of mibelli skos:exactMatch NCIT:C3927 Angiokeratoma of Mibelli semapv:UnspecifiedMatching MONDO:0003712 angiokeratoma of mibelli skos:exactMatch SCTID:62727008 semapv:UnspecifiedMatching MONDO:0003712 angiokeratoma of mibelli skos:exactMatch UMLS:C0263640 semapv:UnspecifiedMatching MONDO:0003713 angiokeratoma circumscriptum skos:exactMatch DOID:5949 angiokeratoma circumscriptum semapv:UnspecifiedMatching MONDO:0003713 angiokeratoma circumscriptum skos:exactMatch NCIT:C7751 Angiokeratoma Circumscriptum semapv:UnspecifiedMatching MONDO:0003713 angiokeratoma circumscriptum skos:exactMatch SCTID:21848000 semapv:UnspecifiedMatching MONDO:0003713 angiokeratoma circumscriptum skos:exactMatch UMLS:C0263638 semapv:UnspecifiedMatching MONDO:0003714 bladder urachal squamous cell carcinoma skos:exactMatch DOID:5957 bladder urachal squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003714 bladder urachal squamous cell carcinoma skos:exactMatch NCIT:C39845 Urachal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003714 bladder urachal squamous cell carcinoma skos:exactMatch UMLS:C1511206 semapv:UnspecifiedMatching MONDO:0003715 bladder urachal carcinoma skos:exactMatch DOID:5958 bladder urachal carcinoma semapv:UnspecifiedMatching MONDO:0003715 bladder urachal carcinoma skos:exactMatch NCIT:C39842 Urachal Carcinoma semapv:UnspecifiedMatching MONDO:0003715 bladder urachal carcinoma skos:exactMatch mesh:C536475 semapv:UnspecifiedMatching MONDO:0003716 renal pelvis papillary urothelial carcinoma skos:exactMatch DOID:5973 kidney pelvis papillary carcinoma semapv:UnspecifiedMatching MONDO:0003716 renal pelvis papillary urothelial carcinoma skos:exactMatch NCIT:C6148 Renal Pelvis Papillary Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0003716 renal pelvis papillary urothelial carcinoma skos:exactMatch UMLS:C1377909 semapv:UnspecifiedMatching MONDO:0003717 renal pelvis papillary tumor skos:exactMatch DOID:5975 renal pelvis papillary tumor semapv:UnspecifiedMatching MONDO:0003717 renal pelvis papillary tumor skos:exactMatch NCIT:C8603 Renal Pelvis Papillary Urothelial Neoplasm semapv:UnspecifiedMatching MONDO:0003717 renal pelvis papillary tumor skos:exactMatch UMLS:C0853688 semapv:UnspecifiedMatching MONDO:0003718 occlusion precerebral artery skos:exactMatch DOID:5976 occlusion precerebral artery semapv:UnspecifiedMatching MONDO:0003718 occlusion precerebral artery skos:exactMatch SCTID:28790007 semapv:UnspecifiedMatching MONDO:0003718 occlusion precerebral artery skos:exactMatch UMLS:C0265090 semapv:UnspecifiedMatching MONDO:0003719 renal pelvis neoplasm skos:exactMatch DOID:5977 renal pelvis benign neoplasm semapv:UnspecifiedMatching MONDO:0003719 renal pelvis neoplasm skos:exactMatch NCIT:C8404 Renal Pelvis Neoplasm semapv:UnspecifiedMatching MONDO:0003719 renal pelvis neoplasm skos:exactMatch SCTID:126881002 semapv:UnspecifiedMatching MONDO:0003719 renal pelvis neoplasm skos:exactMatch UMLS:C0346260 semapv:UnspecifiedMatching MONDO:0003720 kidney fibrosarcoma skos:exactMatch DOID:5982 kidney fibrosarcoma semapv:UnspecifiedMatching MONDO:0003720 kidney fibrosarcoma skos:exactMatch NCIT:C7726 Kidney Fibrosarcoma semapv:UnspecifiedMatching MONDO:0003720 kidney fibrosarcoma skos:exactMatch UMLS:C0238208 semapv:UnspecifiedMatching MONDO:0003721 kidney osteogenic sarcoma skos:exactMatch DOID:5983 kidney osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0003721 kidney osteogenic sarcoma skos:exactMatch NCIT:C6181 Kidney Extraskeletal Osteosarcoma semapv:UnspecifiedMatching MONDO:0003721 kidney osteogenic sarcoma skos:exactMatch UMLS:C1335747 semapv:UnspecifiedMatching MONDO:0003722 internal auditory canal meningioma skos:exactMatch DOID:5990 internal auditory canal meningioma semapv:UnspecifiedMatching MONDO:0003722 internal auditory canal meningioma skos:exactMatch NCIT:C5307 Internal Auditory Canal Meningioma semapv:UnspecifiedMatching MONDO:0003722 internal auditory canal meningioma skos:exactMatch UMLS:C1334227 semapv:UnspecifiedMatching MONDO:0003724 non-proliferative fibrocystic change of the breast skos:exactMatch DOID:5997 non-proliferative fibrocystic change of the breast semapv:UnspecifiedMatching MONDO:0003724 non-proliferative fibrocystic change of the breast skos:exactMatch NCIT:C6943 Breast Fibrocystic Change, Non-Proliferative Type semapv:UnspecifiedMatching MONDO:0003724 non-proliferative fibrocystic change of the breast skos:exactMatch UMLS:C1332628 semapv:UnspecifiedMatching MONDO:0003725 breast adenosis skos:exactMatch DOID:5998 microglandular adenosis semapv:UnspecifiedMatching MONDO:0003725 breast adenosis skos:exactMatch NCIT:C3484 Breast Adenosis semapv:UnspecifiedMatching MONDO:0003725 breast adenosis skos:exactMatch UMLS:C0085750 semapv:UnspecifiedMatching MONDO:0003726 apocrine adenosis of breast skos:exactMatch DOID:5999 apocrine adenosis of breast semapv:UnspecifiedMatching MONDO:0003726 apocrine adenosis of breast skos:exactMatch NCIT:C5198 Breast Apocrine Adenosis semapv:UnspecifiedMatching MONDO:0003726 apocrine adenosis of breast skos:exactMatch UMLS:C1332314 semapv:UnspecifiedMatching MONDO:0003727 animal phobia skos:exactMatch DOID:600 animal phobia semapv:UnspecifiedMatching MONDO:0003727 animal phobia skos:exactMatch NCIT:C35273 Animal Phobia semapv:UnspecifiedMatching MONDO:0003728 breast fibrosarcoma skos:exactMatch DOID:6001 breast fibrosarcoma semapv:UnspecifiedMatching MONDO:0003728 breast fibrosarcoma skos:exactMatch NCIT:C5185 Breast Fibrosarcoma semapv:UnspecifiedMatching MONDO:0003728 breast fibrosarcoma skos:exactMatch UMLS:C1332630 semapv:UnspecifiedMatching MONDO:0003729 aleukemic leukemia cutis skos:exactMatch DOID:6003 aleukemic leukemia cutis semapv:UnspecifiedMatching MONDO:0003729 aleukemic leukemia cutis skos:exactMatch NCIT:C4983 Aleukemic Leukemia Cutis semapv:UnspecifiedMatching MONDO:0003729 aleukemic leukemia cutis skos:exactMatch UMLS:C0887846 semapv:UnspecifiedMatching MONDO:0003730 aleukemic leukemia skos:exactMatch DOID:12965 subleukemic leukemia semapv:UnspecifiedMatching MONDO:0003730 aleukemic leukemia skos:exactMatch DOID:6004 aleukemic leukemia semapv:UnspecifiedMatching MONDO:0003730 aleukemic leukemia skos:exactMatch NCIT:C4982 Aleukemic Leukemia semapv:UnspecifiedMatching MONDO:0003730 aleukemic leukemia skos:exactMatch SCTID:302856006 semapv:UnspecifiedMatching MONDO:0003730 aleukemic leukemia skos:exactMatch UMLS:C0877858 semapv:UnspecifiedMatching MONDO:0003731 adult central nervous system teratoma skos:exactMatch DOID:6015 adult central nervous system teratoma semapv:UnspecifiedMatching MONDO:0003731 adult central nervous system teratoma skos:exactMatch NCIT:C5794 Adult Central Nervous System Teratoma semapv:UnspecifiedMatching MONDO:0003731 adult central nervous system teratoma skos:exactMatch UMLS:C1370506 semapv:UnspecifiedMatching MONDO:0003732 adult central nervous system mature teratoma skos:exactMatch DOID:6016 adult central nervous system mature teratoma semapv:UnspecifiedMatching MONDO:0003732 adult central nervous system mature teratoma skos:exactMatch NCIT:C27400 Adult Central Nervous System Mature Teratoma semapv:UnspecifiedMatching MONDO:0003732 adult central nervous system mature teratoma skos:exactMatch UMLS:C1332194 semapv:UnspecifiedMatching MONDO:0003733 central nervous system mature teratoma skos:exactMatch DOID:6017 central nervous system mature teratoma semapv:UnspecifiedMatching MONDO:0003733 central nervous system mature teratoma skos:exactMatch NCIT:C7013 Central Nervous System Mature Teratoma semapv:UnspecifiedMatching MONDO:0003733 central nervous system mature teratoma skos:exactMatch UMLS:C1332886 semapv:UnspecifiedMatching MONDO:0003734 adult central nervous system immature teratoma skos:exactMatch DOID:6018 adult central nervous system immature teratoma semapv:UnspecifiedMatching MONDO:0003734 adult central nervous system immature teratoma skos:exactMatch NCIT:C27401 Adult Central Nervous System Immature Teratoma semapv:UnspecifiedMatching MONDO:0003734 adult central nervous system immature teratoma skos:exactMatch UMLS:C1332193 semapv:UnspecifiedMatching MONDO:0003735 central nervous system immature teratoma skos:exactMatch DOID:6019 central nervous system immature teratoma semapv:UnspecifiedMatching MONDO:0003735 central nervous system immature teratoma skos:exactMatch NCIT:C7014 Central Nervous System Immature Teratoma semapv:UnspecifiedMatching MONDO:0003735 central nervous system immature teratoma skos:exactMatch UMLS:C1332883 semapv:UnspecifiedMatching MONDO:0003736 cancerophobia skos:exactMatch DOID:602 cancerophobia semapv:UnspecifiedMatching MONDO:0003736 cancerophobia skos:exactMatch NCIT:C35492 Cancerphobia semapv:UnspecifiedMatching MONDO:0003737 malignant testicular Leydig cell tumor skos:exactMatch NCIT:C39942 Malignant Testicular Leydig Cell Tumor semapv:UnspecifiedMatching MONDO:0003737 malignant testicular Leydig cell tumor skos:exactMatch UMLS:C1515288 semapv:UnspecifiedMatching MONDO:0003738 selective IgE deficiency disease skos:exactMatch DOID:6024 selective IgE deficiency disease semapv:UnspecifiedMatching MONDO:0003738 selective IgE deficiency disease skos:exactMatch NCIT:C27143 Selective IgE Immunodeficiency semapv:UnspecifiedMatching MONDO:0003738 selective IgE deficiency disease skos:exactMatch SCTID:234540007 semapv:UnspecifiedMatching MONDO:0003738 selective IgE deficiency disease skos:exactMatch UMLS:C0398694 semapv:UnspecifiedMatching MONDO:0003739 selective immunoglobulin deficiency disease skos:exactMatch DOID:6025 selective immunoglobulin deficiency disease semapv:UnspecifiedMatching MONDO:0003739 selective immunoglobulin deficiency disease skos:exactMatch NCIT:C27870 Selective Immunoglobulin Isotype Deficiency semapv:UnspecifiedMatching MONDO:0003739 selective immunoglobulin deficiency disease skos:exactMatch UMLS:C1335942 semapv:UnspecifiedMatching MONDO:0003740 AIDS phobia skos:exactMatch DOID:603 AIDS phobia semapv:UnspecifiedMatching MONDO:0003740 AIDS phobia skos:exactMatch NCIT:C35614 AIDS Phobia semapv:UnspecifiedMatching MONDO:0003740 AIDS phobia skos:exactMatch UMLS:C0853870 semapv:UnspecifiedMatching MONDO:0003741 juvenile type testicular granulosa cell tumor skos:exactMatch DOID:6032 juvenile type testicular granulosa cell tumor semapv:UnspecifiedMatching MONDO:0003741 juvenile type testicular granulosa cell tumor skos:exactMatch NCIT:C39947 Juvenile Testicular Granulosa Cell Tumor semapv:UnspecifiedMatching MONDO:0003741 juvenile type testicular granulosa cell tumor skos:exactMatch UMLS:C1515285 semapv:UnspecifiedMatching MONDO:0003742 heart fibrosarcoma skos:exactMatch DOID:6033 heart fibrosarcoma semapv:UnspecifiedMatching MONDO:0003742 heart fibrosarcoma skos:exactMatch NCIT:C5361 Cardiac Fibrosarcoma semapv:UnspecifiedMatching MONDO:0003742 heart fibrosarcoma skos:exactMatch UMLS:C1332844 semapv:UnspecifiedMatching MONDO:0003743 heart malignant hemangiopericytoma skos:exactMatch DOID:6034 heart malignant hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003743 heart malignant hemangiopericytoma skos:exactMatch NCIT:C5365 Malignant Cardiac Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003743 heart malignant hemangiopericytoma skos:exactMatch UMLS:C1334567 semapv:UnspecifiedMatching MONDO:0003744 spindle cell intraocular melanoma skos:exactMatch DOID:6037 spindle cell intraocular melanoma semapv:UnspecifiedMatching MONDO:0003744 spindle cell intraocular melanoma skos:exactMatch NCIT:C7986 Uveal Spindle Cell Melanoma semapv:UnspecifiedMatching MONDO:0003744 spindle cell intraocular melanoma skos:exactMatch UMLS:C0279687 semapv:UnspecifiedMatching MONDO:0003745 choroid spindle cell melanoma skos:exactMatch DOID:6041 choroid spindle cell melanoma semapv:UnspecifiedMatching MONDO:0003745 choroid spindle cell melanoma skos:exactMatch NCIT:C6099 Choroid Spindle Cell Melanoma semapv:UnspecifiedMatching MONDO:0003745 choroid spindle cell melanoma skos:exactMatch UMLS:C1333027 semapv:UnspecifiedMatching MONDO:0003746 ciliary body spindle cell melanoma skos:exactMatch DOID:6043 ciliary body spindle cell melanoma semapv:UnspecifiedMatching MONDO:0003746 ciliary body spindle cell melanoma skos:exactMatch NCIT:C6117 Ciliary Body Spindle Cell Melanoma semapv:UnspecifiedMatching MONDO:0003746 ciliary body spindle cell melanoma skos:exactMatch UMLS:C1333052 semapv:UnspecifiedMatching MONDO:0003747 telangiectatic glomangioma skos:exactMatch DOID:6048 telangiectatic glomangioma semapv:UnspecifiedMatching MONDO:0003747 telangiectatic glomangioma skos:exactMatch NCIT:C5345 Telangiectatic Glomangioma semapv:UnspecifiedMatching MONDO:0003747 telangiectatic glomangioma skos:exactMatch UMLS:C1336699 semapv:UnspecifiedMatching MONDO:0003748 flying phobia skos:exactMatch DOID:605 flying phobia semapv:UnspecifiedMatching MONDO:0003748 flying phobia skos:exactMatch NCIT:C35413 Flying Phobia semapv:UnspecifiedMatching MONDO:0003749 esophageal disorder skos:exactMatch DOID:6050 esophageal disease semapv:UnspecifiedMatching MONDO:0003749 esophageal disorder skos:exactMatch NCIT:C3027 Esophageal Disorder semapv:UnspecifiedMatching MONDO:0003749 esophageal disorder skos:exactMatch SCTID:30811009 semapv:UnspecifiedMatching MONDO:0003749 esophageal disorder skos:exactMatch SCTID:37657006 semapv:UnspecifiedMatching MONDO:0003749 esophageal disorder skos:exactMatch UMLS:C0014852 semapv:UnspecifiedMatching MONDO:0003749 esophageal disorder skos:exactMatch mesh:D004935 semapv:UnspecifiedMatching MONDO:0003750 childhood central nervous system germ cell tumor skos:exactMatch DOID:6052 central nervous system childhood germ cell tumor semapv:UnspecifiedMatching MONDO:0003750 childhood central nervous system germ cell tumor skos:exactMatch NCIT:C6205 Childhood Central Nervous System Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003750 childhood central nervous system germ cell tumor skos:exactMatch UMLS:C0278754 semapv:UnspecifiedMatching MONDO:0003751 childhood germ cell tumor skos:exactMatch DOID:6053 childhood germ cell cancer semapv:UnspecifiedMatching MONDO:0003751 childhood germ cell tumor skos:exactMatch NCIT:C7928 Childhood Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003751 childhood germ cell tumor skos:exactMatch UMLS:C0279014 semapv:UnspecifiedMatching MONDO:0003752 frontal sinus Schneiderian papilloma skos:exactMatch DOID:6054 frontal sinus Schneiderian papilloma semapv:UnspecifiedMatching MONDO:0003752 frontal sinus Schneiderian papilloma skos:exactMatch NCIT:C6837 Frontal Sinus Papilloma semapv:UnspecifiedMatching MONDO:0003752 frontal sinus Schneiderian papilloma skos:exactMatch UMLS:C1333645 semapv:UnspecifiedMatching MONDO:0003753 nasal vestibule squamous papilloma skos:exactMatch DOID:6059 nasal vestibule papilloma semapv:UnspecifiedMatching MONDO:0003753 nasal vestibule squamous papilloma skos:exactMatch NCIT:C4369 Nasal Vestibule Squamous Papilloma semapv:UnspecifiedMatching MONDO:0003753 nasal vestibule squamous papilloma skos:exactMatch SCTID:232364006 semapv:UnspecifiedMatching MONDO:0003753 nasal vestibule squamous papilloma skos:exactMatch UMLS:C0339826 semapv:UnspecifiedMatching MONDO:0003754 Brown-Sequard syndrome skos:exactMatch DOID:606 Brown-Sequard syndrome semapv:UnspecifiedMatching MONDO:0003754 Brown-Sequard syndrome skos:exactMatch ICD10CM:G83.81 Brown-Séquard syndrome semapv:UnspecifiedMatching MONDO:0003754 Brown-Sequard syndrome skos:exactMatch NCIT:C84601 Brown-Sequard Syndrome semapv:UnspecifiedMatching MONDO:0003754 Brown-Sequard syndrome skos:exactMatch SCTID:27982003 semapv:UnspecifiedMatching MONDO:0003754 Brown-Sequard syndrome skos:exactMatch mesh:D018437 semapv:UnspecifiedMatching MONDO:0003755 urinary tract non-invasive transitional cell neoplasm skos:exactMatch DOID:6065 urinary tract non-invasive transitional cell neoplasm semapv:UnspecifiedMatching MONDO:0003755 urinary tract non-invasive transitional cell neoplasm skos:exactMatch NCIT:C39854 Non-Invasive Urothelial Neoplasm semapv:UnspecifiedMatching MONDO:0003755 urinary tract non-invasive transitional cell neoplasm skos:exactMatch UMLS:C1518361 semapv:UnspecifiedMatching MONDO:0003756 ovarian mucinous neoplasm skos:exactMatch DOID:6067 ovarian mucinous neoplasm semapv:UnspecifiedMatching MONDO:0003756 ovarian mucinous neoplasm skos:exactMatch NCIT:C5242 Ovarian Mucinous Tumor semapv:UnspecifiedMatching MONDO:0003756 ovarian mucinous neoplasm skos:exactMatch UMLS:C1335168 semapv:UnspecifiedMatching MONDO:0003757 paraplegia skos:exactMatch DOID:607 paraplegia semapv:UnspecifiedMatching MONDO:0003757 paraplegia skos:exactMatch NCIT:C50687 Paraplegia semapv:UnspecifiedMatching MONDO:0003757 paraplegia skos:exactMatch SCTID:60389000 semapv:UnspecifiedMatching MONDO:0003757 paraplegia skos:exactMatch UMLS:C0030486 semapv:UnspecifiedMatching MONDO:0003757 paraplegia skos:exactMatch mesh:D010264 semapv:UnspecifiedMatching MONDO:0003758 childhood testicular germ cell tumor skos:exactMatch DOID:6082 childhood testicular germ cell tumor semapv:UnspecifiedMatching MONDO:0003758 childhood testicular germ cell tumor skos:exactMatch NCIT:C6552 Childhood Testicular Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003758 childhood testicular germ cell tumor skos:exactMatch UMLS:C0796663 semapv:UnspecifiedMatching MONDO:0003759 childhood ovarian yolk sac tumor skos:exactMatch DOID:6083 childhood ovarian endodermal sinus tumor semapv:UnspecifiedMatching MONDO:0003759 childhood ovarian yolk sac tumor skos:exactMatch NCIT:C6551 Childhood Ovarian Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0003759 childhood ovarian yolk sac tumor skos:exactMatch UMLS:C1332993 semapv:UnspecifiedMatching MONDO:0003760 pediatric ovarian germ cell tumor skos:exactMatch DOID:6084 childhood ovarian germ cell tumor semapv:UnspecifiedMatching MONDO:0003760 pediatric ovarian germ cell tumor skos:exactMatch NCIT:C8588 Childhood Ovarian Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003760 pediatric ovarian germ cell tumor skos:exactMatch UMLS:C0796664 semapv:UnspecifiedMatching MONDO:0003761 leptomeningeal melanoma skos:exactMatch DOID:6085 meningeal melanoma semapv:UnspecifiedMatching MONDO:0003761 leptomeningeal melanoma skos:exactMatch NCIT:C5317 Meningeal Melanoma semapv:UnspecifiedMatching MONDO:0003761 leptomeningeal melanoma skos:exactMatch SCTID:277530005 semapv:UnspecifiedMatching MONDO:0003761 leptomeningeal melanoma skos:exactMatch UMLS:C1334386 semapv:UnspecifiedMatching MONDO:0003762 malignant leptomeningeal tumor skos:exactMatch DOID:6086 malignant leptomeningeal neoplasm semapv:UnspecifiedMatching MONDO:0003762 malignant leptomeningeal tumor skos:exactMatch NCIT:C8506 Malignant Leptomeningeal Neoplasm semapv:UnspecifiedMatching MONDO:0003762 malignant leptomeningeal tumor skos:exactMatch UMLS:C1334596 semapv:UnspecifiedMatching MONDO:0003763 acute stress disorder skos:exactMatch DOID:6088 acute stress disorder semapv:UnspecifiedMatching MONDO:0003763 acute stress disorder skos:exactMatch ICD10CM:F43.0 Acute stress reaction semapv:UnspecifiedMatching MONDO:0003763 acute stress disorder skos:exactMatch NCIT:C92621 Acute Stress Disorder semapv:UnspecifiedMatching MONDO:0003763 acute stress disorder skos:exactMatch SCTID:67195008 semapv:UnspecifiedMatching MONDO:0003763 acute stress disorder skos:exactMatch mesh:D000068099 semapv:UnspecifiedMatching MONDO:0003764 pediatric leptomeningeal melanoma skos:exactMatch DOID:6089 childhood leptomeningeal melanoma semapv:UnspecifiedMatching MONDO:0003764 pediatric leptomeningeal melanoma skos:exactMatch NCIT:C5318 Childhood Meningeal Melanoma semapv:UnspecifiedMatching MONDO:0003764 pediatric leptomeningeal melanoma skos:exactMatch UMLS:C1332976 semapv:UnspecifiedMatching MONDO:0003765 adult leptomeningeal melanoma skos:exactMatch DOID:6090 adult leptomeningeal melanoma semapv:UnspecifiedMatching MONDO:0003765 adult leptomeningeal melanoma skos:exactMatch NCIT:C5319 Adult Meningeal Melanoma semapv:UnspecifiedMatching MONDO:0003765 adult leptomeningeal melanoma skos:exactMatch UMLS:C1332204 semapv:UnspecifiedMatching MONDO:0003766 thalamic cancer skos:exactMatch DOID:6098 thalamic neoplasm semapv:UnspecifiedMatching MONDO:0003766 thalamic cancer skos:exactMatch NCIT:C4576 Malignant Thalamic Neoplasm semapv:UnspecifiedMatching MONDO:0003766 thalamic cancer skos:exactMatch SCTID:188287005 semapv:UnspecifiedMatching MONDO:0003766 thalamic cancer skos:exactMatch UMLS:C0346902 semapv:UnspecifiedMatching MONDO:0003767 mitral valve disorder skos:exactMatch DOID:61 mitral valve disease semapv:UnspecifiedMatching MONDO:0003767 mitral valve disorder skos:exactMatch NCIT:C78446 Mitral Valve Disorder semapv:UnspecifiedMatching MONDO:0003767 mitral valve disorder skos:exactMatch SCTID:11851006 semapv:UnspecifiedMatching MONDO:0003767 mitral valve disorder skos:exactMatch UMLS:C0026265 semapv:UnspecifiedMatching MONDO:0003767 mitral valve disorder skos:exactMatch UMLS:C2939153 semapv:UnspecifiedMatching MONDO:0003768 signet ring cell variant cervical mucinous adenocarcinoma skos:exactMatch DOID:6101 signet ring cell variant cervical mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0003768 signet ring cell variant cervical mucinous adenocarcinoma skos:exactMatch NCIT:C40205 Cervical Mucinous Adenocarcinoma, Signet Ring Cell-Type semapv:UnspecifiedMatching MONDO:0003768 signet ring cell variant cervical mucinous adenocarcinoma skos:exactMatch UMLS:C1516424 semapv:UnspecifiedMatching MONDO:0003769 herpetic gastritis skos:exactMatch DOID:6102 herpetic gastritis semapv:UnspecifiedMatching MONDO:0003769 herpetic gastritis skos:exactMatch NCIT:C27341 Herpetic Gastritis semapv:UnspecifiedMatching MONDO:0003769 herpetic gastritis skos:exactMatch UMLS:C1333996 semapv:UnspecifiedMatching MONDO:0003770 thoracic spinal canal and spinal cord meningioma skos:exactMatch DOID:6103 thoracic spinal canal and spinal cord meningioma semapv:UnspecifiedMatching MONDO:0003770 thoracic spinal canal and spinal cord meningioma skos:exactMatch NCIT:C5297 Thoracic Intraspinal Meningioma semapv:UnspecifiedMatching MONDO:0003770 thoracic spinal canal and spinal cord meningioma skos:exactMatch UMLS:C1336738 semapv:UnspecifiedMatching MONDO:0003771 jugular foramen meningioma skos:exactMatch DOID:6110 jugular foramen meningioma semapv:UnspecifiedMatching MONDO:0003771 jugular foramen meningioma skos:exactMatch NCIT:C5293 Jugular Foramen Meningioma semapv:UnspecifiedMatching MONDO:0003771 jugular foramen meningioma skos:exactMatch UMLS:C1334298 semapv:UnspecifiedMatching MONDO:0003772 cerebral meningioma skos:exactMatch DOID:6112 cerebral meningioma semapv:UnspecifiedMatching MONDO:0003772 cerebral meningioma skos:exactMatch NCIT:C4807 Cerebral Meningioma semapv:UnspecifiedMatching MONDO:0003772 cerebral meningioma skos:exactMatch SCTID:189164002 semapv:UnspecifiedMatching MONDO:0003772 cerebral meningioma skos:exactMatch UMLS:C0542564 semapv:UnspecifiedMatching MONDO:0003773 intracerebral cystic meningioma skos:exactMatch DOID:6113 intracerebral cystic meningioma semapv:UnspecifiedMatching MONDO:0003773 intracerebral cystic meningioma skos:exactMatch NCIT:C5269 Intracerebral Cystic Meningioma semapv:UnspecifiedMatching MONDO:0003773 intracerebral cystic meningioma skos:exactMatch UMLS:C1334236 semapv:UnspecifiedMatching MONDO:0003774 cerebral convexity meningioma skos:exactMatch DOID:6114 cerebral convexity meningioma semapv:UnspecifiedMatching MONDO:0003774 cerebral convexity meningioma skos:exactMatch NCIT:C4959 Cerebral Convexity Meningioma semapv:UnspecifiedMatching MONDO:0003774 cerebral convexity meningioma skos:exactMatch UMLS:C0751303 semapv:UnspecifiedMatching MONDO:0003775 lateral ventricle meningioma skos:exactMatch DOID:6115 lateral ventricle meningioma semapv:UnspecifiedMatching MONDO:0003775 lateral ventricle meningioma skos:exactMatch NCIT:C5302 Lateral Ventricle Meningioma semapv:UnspecifiedMatching MONDO:0003775 lateral ventricle meningioma skos:exactMatch UMLS:C1334380 semapv:UnspecifiedMatching MONDO:0003776 renal pelvis inverted papilloma skos:exactMatch DOID:6118 renal pelvis inverted papilloma semapv:UnspecifiedMatching MONDO:0003776 renal pelvis inverted papilloma skos:exactMatch NCIT:C6187 Renal Pelvis Inverted Papilloma semapv:UnspecifiedMatching MONDO:0003776 renal pelvis inverted papilloma skos:exactMatch UMLS:C1335751 semapv:UnspecifiedMatching MONDO:0003777 renal pelvis urothelial papilloma skos:exactMatch DOID:6119 renal pelvis urothelial papilloma semapv:UnspecifiedMatching MONDO:0003777 renal pelvis urothelial papilloma skos:exactMatch NCIT:C4528 Renal Pelvis Urothelial Papilloma semapv:UnspecifiedMatching MONDO:0003777 renal pelvis urothelial papilloma skos:exactMatch UMLS:C1514844 semapv:UnspecifiedMatching MONDO:0003778 inborn error of immunity skos:exactMatch DOID:612 primary immunodeficiency disease semapv:UnspecifiedMatching MONDO:0003778 inborn error of immunity skos:exactMatch Orphanet:101997 Primary immunodeficiency semapv:UnspecifiedMatching MONDO:0003778 inborn error of immunity skos:exactMatch SCTID:58606001 semapv:UnspecifiedMatching MONDO:0003778 inborn error of immunity skos:exactMatch UMLS:C0398686 semapv:UnspecifiedMatching MONDO:0003778 inborn error of immunity skos:exactMatch mesh:D007153 semapv:UnspecifiedMatching MONDO:0003780 T-cell immunodeficiency skos:exactMatch NCIT:C27145 T-Cell Immunodeficiency semapv:UnspecifiedMatching MONDO:0003780 T-cell immunodeficiency skos:exactMatch SCTID:402792003 semapv:UnspecifiedMatching MONDO:0003780 T-cell immunodeficiency skos:exactMatch UMLS:C1274233 semapv:UnspecifiedMatching MONDO:0003781 bronchitis skos:exactMatch DOID:6132 bronchitis semapv:UnspecifiedMatching MONDO:0003781 bronchitis skos:exactMatch NCIT:C2911 Bronchitis semapv:UnspecifiedMatching MONDO:0003781 bronchitis skos:exactMatch SCTID:32398004 semapv:UnspecifiedMatching MONDO:0003781 bronchitis skos:exactMatch UMLS:C0006277 semapv:UnspecifiedMatching MONDO:0003781 bronchitis skos:exactMatch mesh:D001991 semapv:UnspecifiedMatching MONDO:0003782 uterine corpus epithelioid leiomyosarcoma skos:exactMatch DOID:6139 uterine corpus epithelioid leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003782 uterine corpus epithelioid leiomyosarcoma skos:exactMatch NCIT:C40174 Uterine Corpus Epithelioid Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003782 uterine corpus epithelioid leiomyosarcoma skos:exactMatch UMLS:C1519851 semapv:UnspecifiedMatching MONDO:0003783 lymphopenia skos:exactMatch DOID:614 lymphopenia semapv:UnspecifiedMatching MONDO:0003783 lymphopenia skos:exactMatch ICD10CM:D72.810 Lymphocytopenia semapv:UnspecifiedMatching MONDO:0003783 lymphopenia skos:exactMatch SCTID:48813009 semapv:UnspecifiedMatching MONDO:0003783 lymphopenia skos:exactMatch UMLS:C0024312 semapv:UnspecifiedMatching MONDO:0003783 lymphopenia skos:exactMatch mesh:D008231 semapv:UnspecifiedMatching MONDO:0003784 nasal cavity carcinoma in situ skos:exactMatch DOID:6148 nasal cavity carcinoma in situ semapv:UnspecifiedMatching MONDO:0003784 nasal cavity carcinoma in situ skos:exactMatch NCIT:C4589 Stage 0 Nasal Cavity Cancer AJCC v6, v7, and v8 semapv:UnspecifiedMatching MONDO:0003784 nasal cavity carcinoma in situ skos:exactMatch SCTID:92663007 semapv:UnspecifiedMatching MONDO:0003784 nasal cavity carcinoma in situ skos:exactMatch UMLS:C0347095 semapv:UnspecifiedMatching MONDO:0003785 leukopenia skos:exactMatch DOID:615 leukopenia semapv:UnspecifiedMatching MONDO:0003785 leukopenia skos:exactMatch NCIT:C26816 Leukopenia semapv:UnspecifiedMatching MONDO:0003785 leukopenia skos:exactMatch SCTID:84828003 semapv:UnspecifiedMatching MONDO:0003785 leukopenia skos:exactMatch UMLS:C0023530 semapv:UnspecifiedMatching MONDO:0003785 leukopenia skos:exactMatch mesh:D007970 semapv:UnspecifiedMatching MONDO:0003786 childhood testicular choriocarcinoma skos:exactMatch DOID:6160 childhood choriocarcinoma of the testis semapv:UnspecifiedMatching MONDO:0003786 childhood testicular choriocarcinoma skos:exactMatch NCIT:C6544 Childhood Testicular Choriocarcinoma semapv:UnspecifiedMatching MONDO:0003786 childhood testicular choriocarcinoma skos:exactMatch UMLS:C1333006 semapv:UnspecifiedMatching MONDO:0003787 childhood testicular mixed germ cell cancer skos:exactMatch DOID:6161 childhood testicular mixed germ cell tumor semapv:UnspecifiedMatching MONDO:0003787 childhood testicular mixed germ cell cancer skos:exactMatch NCIT:C6542 Childhood Testicular Mixed Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0003787 childhood testicular mixed germ cell cancer skos:exactMatch UMLS:C1333009 semapv:UnspecifiedMatching MONDO:0003788 childhood embryonal testis carcinoma skos:exactMatch DOID:6162 childhood embryonal testis carcinoma semapv:UnspecifiedMatching MONDO:0003788 childhood embryonal testis carcinoma skos:exactMatch NCIT:C6545 Childhood Testicular Embryonal Carcinoma semapv:UnspecifiedMatching MONDO:0003788 childhood embryonal testis carcinoma skos:exactMatch UMLS:C1333007 semapv:UnspecifiedMatching MONDO:0003789 hereditary papillary renal cell carcinoma skos:exactMatch DOID:6163 familial renal papillary carcinoma semapv:UnspecifiedMatching MONDO:0003789 hereditary papillary renal cell carcinoma skos:exactMatch NCIT:C9222 Hereditary Papillary Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003789 hereditary papillary renal cell carcinoma skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:UnspecifiedMatching MONDO:0003789 hereditary papillary renal cell carcinoma skos:exactMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:UnspecifiedMatching MONDO:0003789 hereditary papillary renal cell carcinoma skos:exactMatch SCTID:715561008 semapv:UnspecifiedMatching MONDO:0003789 hereditary papillary renal cell carcinoma skos:exactMatch UMLS:C0879257 semapv:UnspecifiedMatching MONDO:0003790 prostatic urethra urothelial carcinoma skos:exactMatch DOID:6166 prostatic urethra urothelial carcinoma semapv:UnspecifiedMatching MONDO:0003790 prostatic urethra urothelial carcinoma skos:exactMatch NCIT:C39900 Prostatic Urethra Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0003790 prostatic urethra urothelial carcinoma skos:exactMatch UMLS:C1514522 semapv:UnspecifiedMatching MONDO:0003791 prostatic urethral cancer skos:exactMatch DOID:6167 prostatic urethral cancer semapv:UnspecifiedMatching MONDO:0003791 prostatic urethral cancer skos:exactMatch NCIT:C39870 Prostatic Urethral Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0003791 prostatic urethral cancer skos:exactMatch UMLS:C1514523 semapv:UnspecifiedMatching MONDO:0003792 ovarian carcinosarcoma skos:exactMatch DOID:6170 ovarian carcinosarcoma semapv:UnspecifiedMatching MONDO:0003792 ovarian carcinosarcoma skos:exactMatch NCIT:C9192 Ovarian Carcinosarcoma semapv:UnspecifiedMatching MONDO:0003792 ovarian carcinosarcoma skos:exactMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:UnspecifiedMatching MONDO:0003792 ovarian carcinosarcoma skos:exactMatch SCTID:702368000 semapv:UnspecifiedMatching MONDO:0003792 ovarian carcinosarcoma skos:exactMatch UMLS:C0392998 semapv:UnspecifiedMatching MONDO:0003795 ovarian small cell carcinoma skos:exactMatch DOID:6179 ovarian small cell carcinoma semapv:UnspecifiedMatching MONDO:0003795 ovarian small cell carcinoma skos:exactMatch NCIT:C27390 Ovarian Small Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003795 ovarian small cell carcinoma skos:exactMatch Orphanet:370396 Small cell carcinoma of the ovary semapv:UnspecifiedMatching MONDO:0003795 ovarian small cell carcinoma skos:exactMatch UMLS:C2212006 semapv:UnspecifiedMatching MONDO:0003796 rectum Kaposi sarcoma skos:exactMatch DOID:6190 rectum Kaposi's sarcoma semapv:UnspecifiedMatching MONDO:0003796 rectum Kaposi sarcoma skos:exactMatch NCIT:C5550 Rectal Kaposi Sarcoma semapv:UnspecifiedMatching MONDO:0003796 rectum Kaposi sarcoma skos:exactMatch UMLS:C1335681 semapv:UnspecifiedMatching MONDO:0003799 conjunctivitis skos:exactMatch DOID:6195 conjunctivitis semapv:UnspecifiedMatching MONDO:0003799 conjunctivitis skos:exactMatch NCIT:C34504 Conjunctivitis semapv:UnspecifiedMatching MONDO:0003799 conjunctivitis skos:exactMatch SCTID:9826008 semapv:UnspecifiedMatching MONDO:0003799 conjunctivitis skos:exactMatch UMLS:C0009763 semapv:UnspecifiedMatching MONDO:0003799 conjunctivitis skos:exactMatch mesh:D003231 semapv:UnspecifiedMatching MONDO:0003800 conventional malignant hemangiopericytoma skos:exactMatch DOID:6197 conventional malignant hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003800 conventional malignant hemangiopericytoma skos:exactMatch NCIT:C9425 Conventional Malignant Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003800 conventional malignant hemangiopericytoma skos:exactMatch UMLS:C1333158 semapv:UnspecifiedMatching MONDO:0003801 corneal intraepithelial neoplasm skos:exactMatch DOID:6198 corneal intraepithelial neoplasm semapv:UnspecifiedMatching MONDO:0003801 corneal intraepithelial neoplasm skos:exactMatch NCIT:C6093 Corneal Squamous Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO:0003801 corneal intraepithelial neoplasm skos:exactMatch SCTID:420835009 semapv:UnspecifiedMatching MONDO:0003801 corneal intraepithelial neoplasm skos:exactMatch UMLS:C1333159 semapv:UnspecifiedMatching MONDO:0003802 cornea cancer skos:exactMatch DOID:6199 cornea cancer semapv:UnspecifiedMatching MONDO:0003802 cornea cancer skos:exactMatch NCIT:C3565 Malignant Corneal Neoplasm semapv:UnspecifiedMatching MONDO:0003802 cornea cancer skos:exactMatch SCTID:363464006 semapv:UnspecifiedMatching MONDO:0003802 cornea cancer skos:exactMatch UMLS:C0153629 semapv:UnspecifiedMatching MONDO:0003803 aortic valve disorder skos:exactMatch DOID:62 aortic valve disease semapv:UnspecifiedMatching MONDO:0003803 aortic valve disorder skos:exactMatch NCIT:C78650 Aortic Valve Disorder semapv:UnspecifiedMatching MONDO:0003803 aortic valve disorder skos:exactMatch UMLS:C1260873 semapv:UnspecifiedMatching MONDO:0003804 obsolete blood protein disease skos:exactMatch DOID:620 blood protein disease semapv:UnspecifiedMatching MONDO:0003804 obsolete blood protein disease skos:exactMatch UMLS:C0005830 semapv:UnspecifiedMatching MONDO:0003804 obsolete blood protein disease skos:exactMatch mesh:D001796 semapv:UnspecifiedMatching MONDO:0003805 malignant pericardial mesothelioma skos:exactMatch DOID:6201 pericardial mesothelioma semapv:UnspecifiedMatching MONDO:0003805 malignant pericardial mesothelioma skos:exactMatch NCIT:C7631 Pericardial Malignant Mesothelioma semapv:UnspecifiedMatching MONDO:0003805 malignant pericardial mesothelioma skos:exactMatch SCTID:109383000 semapv:UnspecifiedMatching MONDO:0003805 malignant pericardial mesothelioma skos:exactMatch UMLS:C0346110 semapv:UnspecifiedMatching MONDO:0003805 malignant pericardial mesothelioma skos:exactMatch UMLS:C1335381 semapv:UnspecifiedMatching MONDO:0003806 thyroid hyalinizing trabecular adenoma skos:exactMatch DOID:6203 thyroid hyalinizing trabecular adenoma semapv:UnspecifiedMatching MONDO:0003806 thyroid hyalinizing trabecular adenoma skos:exactMatch NCIT:C6846 Thyroid Gland Hyalinizing Trabecular Tumor semapv:UnspecifiedMatching MONDO:0003806 thyroid hyalinizing trabecular adenoma skos:exactMatch UMLS:C1336751 semapv:UnspecifiedMatching MONDO:0003808 mediastinal extraskeletal osteosarcoma skos:exactMatch DOID:6208 mediastinal osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0003808 mediastinal extraskeletal osteosarcoma skos:exactMatch NCIT:C6615 Mediastinal Extraskeletal Osteosarcoma semapv:UnspecifiedMatching MONDO:0003808 mediastinal extraskeletal osteosarcoma skos:exactMatch UMLS:C1334675 semapv:UnspecifiedMatching MONDO:0003809 malignant mediastinum hemangiopericytoma skos:exactMatch DOID:6209 malignant mediastinum hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003809 malignant mediastinum hemangiopericytoma skos:exactMatch NCIT:C6608 Malignant Mediastinal Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003809 malignant mediastinum hemangiopericytoma skos:exactMatch UMLS:C1334598 semapv:UnspecifiedMatching MONDO:0003810 bladder diffuse clear cell adenocarcinoma skos:exactMatch DOID:6210 bladder diffuse clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0003810 bladder diffuse clear cell adenocarcinoma skos:exactMatch NCIT:C39849 Bladder Diffuse Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003810 bladder diffuse clear cell adenocarcinoma skos:exactMatch UMLS:C1511187 semapv:UnspecifiedMatching MONDO:0003811 ovarian seromucinous tumor skos:exactMatch DOID:6211 mixed epithelial tumor of ovary semapv:UnspecifiedMatching MONDO:0003811 ovarian seromucinous tumor skos:exactMatch NCIT:C4508 Ovarian Seromucinous Tumor semapv:UnspecifiedMatching MONDO:0003811 ovarian seromucinous tumor skos:exactMatch SCTID:254855000 semapv:UnspecifiedMatching MONDO:0003811 ovarian seromucinous tumor skos:exactMatch UMLS:C0346166 semapv:UnspecifiedMatching MONDO:0003812 ovarian endometrial cancer skos:exactMatch DOID:6212 ovarian endometrial cancer semapv:UnspecifiedMatching MONDO:0003812 ovarian endometrial cancer skos:exactMatch NCIT:C40051 Malignant Ovarian Endometrioid Tumor semapv:UnspecifiedMatching MONDO:0003812 ovarian endometrial cancer skos:exactMatch UMLS:C1518231 semapv:UnspecifiedMatching MONDO:0003813 ovarian papillary tumor skos:exactMatch DOID:6214 ovarian papillary neoplasm semapv:UnspecifiedMatching MONDO:0003813 ovarian papillary tumor skos:exactMatch NCIT:C8430 Ovarian Papillary Tumor semapv:UnspecifiedMatching MONDO:0003813 ovarian papillary tumor skos:exactMatch UMLS:C0476121 semapv:UnspecifiedMatching MONDO:0003816 articular cartilage disorder skos:exactMatch DOID:6227 articular cartilage disease semapv:UnspecifiedMatching MONDO:0003816 articular cartilage disorder skos:exactMatch SCTID:53417006 semapv:UnspecifiedMatching MONDO:0003816 articular cartilage disorder skos:exactMatch UMLS:C0158073 semapv:UnspecifiedMatching MONDO:0003818 childhood mature teratoma of the ovary skos:exactMatch DOID:6229 childhood mature teratoma of the ovary semapv:UnspecifiedMatching MONDO:0003818 childhood mature teratoma of the ovary skos:exactMatch NCIT:C6548 Childhood Ovarian Mature Teratoma semapv:UnspecifiedMatching MONDO:0003818 childhood mature teratoma of the ovary skos:exactMatch UMLS:C1332991 semapv:UnspecifiedMatching MONDO:0003819 childhood teratoma of the ovary skos:exactMatch DOID:6230 childhood teratoma of the ovary semapv:UnspecifiedMatching MONDO:0003819 childhood teratoma of the ovary skos:exactMatch NCIT:C6554 Childhood Ovarian Teratoma semapv:UnspecifiedMatching MONDO:0003819 childhood teratoma of the ovary skos:exactMatch UMLS:C1332992 semapv:UnspecifiedMatching MONDO:0003820 mature ovarian teratoma skos:exactMatch DOID:6231 mature teratoma of the ovary semapv:UnspecifiedMatching MONDO:0003820 mature ovarian teratoma skos:exactMatch NCIT:C8112 Mature Ovarian Teratoma semapv:UnspecifiedMatching MONDO:0003820 mature ovarian teratoma skos:exactMatch UMLS:C1334637 semapv:UnspecifiedMatching MONDO:0003821 ovarian biphasic or triphasic teratoma skos:exactMatch DOID:6232 ovarian biphasic or triphasic teratoma semapv:UnspecifiedMatching MONDO:0003821 ovarian biphasic or triphasic teratoma skos:exactMatch NCIT:C39992 Ovarian Biphasic or Triphasic Teratoma semapv:UnspecifiedMatching MONDO:0003821 ovarian biphasic or triphasic teratoma skos:exactMatch UMLS:C1518691 semapv:UnspecifiedMatching MONDO:0003822 non-invasive bladder papillary urothelial neoplasm skos:exactMatch DOID:6239 non-invasive bladder papillary urothelial neoplasm semapv:UnspecifiedMatching MONDO:0003822 non-invasive bladder papillary urothelial neoplasm skos:exactMatch NCIT:C39831 Bladder Non-Invasive Papillary Urothelial Neoplasm semapv:UnspecifiedMatching MONDO:0003822 non-invasive bladder papillary urothelial neoplasm skos:exactMatch UMLS:C1518358 semapv:UnspecifiedMatching MONDO:0003824 hereditary kidney oncocytoma skos:exactMatch DOID:6244 familial renal oncocytoma semapv:UnspecifiedMatching MONDO:0003824 hereditary kidney oncocytoma skos:exactMatch NCIT:C8960 Hereditary Kidney Oncocytoma semapv:UnspecifiedMatching MONDO:0003824 hereditary kidney oncocytoma skos:exactMatch UMLS:C0879606 semapv:UnspecifiedMatching MONDO:0003825 kidney oncocytoma skos:exactMatch DOID:6245 renal oncocytoma semapv:UnspecifiedMatching MONDO:0003825 kidney oncocytoma skos:exactMatch NCIT:C4526 Kidney Oncocytoma semapv:UnspecifiedMatching MONDO:0003825 kidney oncocytoma skos:exactMatch SCTID:254922006 semapv:UnspecifiedMatching MONDO:0003825 kidney oncocytoma skos:exactMatch UMLS:C0346255 semapv:UnspecifiedMatching MONDO:0003825 kidney oncocytoma skos:exactMatch mesh:C537750 semapv:UnspecifiedMatching MONDO:0003826 mediastinum seminoma skos:exactMatch DOID:6249 mediastinum seminoma semapv:UnspecifiedMatching MONDO:0003826 mediastinum seminoma skos:exactMatch NCIT:C6812 Mediastinal Seminoma semapv:UnspecifiedMatching MONDO:0003826 mediastinum seminoma skos:exactMatch UMLS:C1334680 semapv:UnspecifiedMatching MONDO:0003827 transient hypogammaglobulinemia skos:exactMatch DOID:625 transient hypogammaglobulinemia semapv:UnspecifiedMatching MONDO:0003827 transient hypogammaglobulinemia skos:exactMatch NCIT:C27319 Transient Hypogammaglobulinemia semapv:UnspecifiedMatching MONDO:0003827 transient hypogammaglobulinemia skos:exactMatch UMLS:C0859960 semapv:UnspecifiedMatching MONDO:0003828 growth hormone-producing pituitary gland carcinoma skos:exactMatch DOID:6256 malignant growth hormone secreting neoplasm of pituitary semapv:UnspecifiedMatching MONDO:0003828 growth hormone-producing pituitary gland carcinoma skos:exactMatch NCIT:C5963 Metastatic Somatotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003828 growth hormone-producing pituitary gland carcinoma skos:exactMatch UMLS:C1334587 semapv:UnspecifiedMatching MONDO:0003829 chromophil adenoma of the kidney skos:exactMatch DOID:6257 chromophil adenoma of the kidney semapv:UnspecifiedMatching MONDO:0003829 chromophil adenoma of the kidney skos:exactMatch NCIT:C3687 Renal Papillary Adenoma semapv:UnspecifiedMatching MONDO:0003829 chromophil adenoma of the kidney skos:exactMatch UMLS:C1518879 semapv:UnspecifiedMatching MONDO:0003830 type 1 papillary adenoma of the kidney skos:exactMatch DOID:6258 type 1 papillary adenoma of the kidney semapv:UnspecifiedMatching MONDO:0003830 type 1 papillary adenoma of the kidney skos:exactMatch NCIT:C39809 Type 1 Renal Papillary Adenoma semapv:UnspecifiedMatching MONDO:0003830 type 1 papillary adenoma of the kidney skos:exactMatch UMLS:C1519706 semapv:UnspecifiedMatching MONDO:0003831 type 2 papillary adenoma of the kidney skos:exactMatch DOID:6259 type 2 papillary adenoma of the kidney semapv:UnspecifiedMatching MONDO:0003831 type 2 papillary adenoma of the kidney skos:exactMatch NCIT:C39810 Type 2 Renal Papillary Adenoma semapv:UnspecifiedMatching MONDO:0003831 type 2 papillary adenoma of the kidney skos:exactMatch UMLS:C1519710 semapv:UnspecifiedMatching MONDO:0003832 complement deficiency skos:exactMatch DOID:626 complement deficiency semapv:UnspecifiedMatching MONDO:0003832 complement deficiency skos:exactMatch NCIT:C4691 Complement Deficiency semapv:UnspecifiedMatching MONDO:0003832 complement deficiency skos:exactMatch Orphanet:459345 Immunodeficiency due to a complement cascade component deficiency semapv:UnspecifiedMatching MONDO:0003832 complement deficiency skos:exactMatch SCTID:24743004 semapv:UnspecifiedMatching MONDO:0003832 complement deficiency skos:exactMatch UMLS:C0272242 semapv:UnspecifiedMatching MONDO:0003834 gastric cardia carcinoma skos:exactMatch DOID:6270 gastric cardia carcinoma semapv:UnspecifiedMatching MONDO:0003834 gastric cardia carcinoma skos:exactMatch NCIT:C6794 Gastric Cardia Carcinoma semapv:UnspecifiedMatching MONDO:0003834 gastric cardia carcinoma skos:exactMatch UMLS:C1333763 semapv:UnspecifiedMatching MONDO:0003835 gastric cardia adenocarcinoma skos:exactMatch DOID:6271 gastric cardia adenocarcinoma semapv:UnspecifiedMatching MONDO:0003835 gastric cardia adenocarcinoma skos:exactMatch NCIT:C5247 Gastric Cardia Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003835 gastric cardia adenocarcinoma skos:exactMatch UMLS:C1333762 semapv:UnspecifiedMatching MONDO:0003836 malignant thyroid stimulating hormone producing neoplasm of pituitary gland skos:exactMatch DOID:6274 malignant thyroid stimulating hormone producing neoplasm of pituitary gland semapv:UnspecifiedMatching MONDO:0003836 malignant thyroid stimulating hormone producing neoplasm of pituitary gland skos:exactMatch NCIT:C5965 Metastatic Thyrotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003836 malignant thyroid stimulating hormone producing neoplasm of pituitary gland skos:exactMatch UMLS:C1334627 semapv:UnspecifiedMatching MONDO:0003837 TSH producing pituitary tumor skos:exactMatch DOID:6275 TSH producing pituitary tumor semapv:UnspecifiedMatching MONDO:0003837 TSH producing pituitary tumor skos:exactMatch NCIT:C7915 Thyrotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0003837 TSH producing pituitary tumor skos:exactMatch SCTID:254959007 semapv:UnspecifiedMatching MONDO:0003837 TSH producing pituitary tumor skos:exactMatch UMLS:C2362538 semapv:UnspecifiedMatching MONDO:0003839 ovarian mucinous adenocarcinofibroma skos:exactMatch DOID:6278 ovarian mucinous malignant adenofibroma semapv:UnspecifiedMatching MONDO:0003839 ovarian mucinous adenocarcinofibroma skos:exactMatch NCIT:C40034 Ovarian Mucinous Adenocarcinofibroma semapv:UnspecifiedMatching MONDO:0003839 ovarian mucinous adenocarcinofibroma skos:exactMatch UMLS:C2212014 semapv:UnspecifiedMatching MONDO:0003840 epicardium lipoma skos:exactMatch DOID:6284 epicardium lipoma semapv:UnspecifiedMatching MONDO:0003840 epicardium lipoma skos:exactMatch NCIT:C6742 Epicardial Lipoma semapv:UnspecifiedMatching MONDO:0003840 epicardium lipoma skos:exactMatch UMLS:C1333411 semapv:UnspecifiedMatching MONDO:0003841 heart lipoma skos:exactMatch DOID:6285 heart lipoma semapv:UnspecifiedMatching MONDO:0003841 heart lipoma skos:exactMatch NCIT:C6741 Cardiac Lipoma semapv:UnspecifiedMatching MONDO:0003841 heart lipoma skos:exactMatch UMLS:C1332849 semapv:UnspecifiedMatching MONDO:0003842 childhood cerebellar astrocytic neoplasm skos:exactMatch DOID:6286 childhood cerebellar astrocytic neoplasm semapv:UnspecifiedMatching MONDO:0003842 childhood cerebellar astrocytic neoplasm skos:exactMatch NCIT:C6286 Childhood Cerebellar Astrocytoma semapv:UnspecifiedMatching MONDO:0003842 childhood cerebellar astrocytic neoplasm skos:exactMatch UMLS:C0278594 semapv:UnspecifiedMatching MONDO:0003843 cerebral hemisphere lipoma skos:exactMatch DOID:6291 cerebral hemisphere lipoma semapv:UnspecifiedMatching MONDO:0003843 cerebral hemisphere lipoma skos:exactMatch NCIT:C6220 Cerebral Hemisphere Lipoma semapv:UnspecifiedMatching MONDO:0003843 cerebral hemisphere lipoma skos:exactMatch UMLS:C1332907 semapv:UnspecifiedMatching MONDO:0003844 central nervous system lipoma skos:exactMatch DOID:6293 central nervous system lipoma semapv:UnspecifiedMatching MONDO:0003844 central nervous system lipoma skos:exactMatch NCIT:C5451 Central Nervous System Lipoma semapv:UnspecifiedMatching MONDO:0003844 central nervous system lipoma skos:exactMatch UMLS:C1332885 semapv:UnspecifiedMatching MONDO:0003845 corpus callosum lipoma skos:exactMatch DOID:6294 corpus callosum lipoma semapv:UnspecifiedMatching MONDO:0003845 corpus callosum lipoma skos:exactMatch NCIT:C5438 Corpus Callosum Lipoma semapv:UnspecifiedMatching MONDO:0003845 corpus callosum lipoma skos:exactMatch UMLS:C1333160 semapv:UnspecifiedMatching MONDO:0003846 viral esophagitis skos:exactMatch DOID:6297 viral esophagitis semapv:UnspecifiedMatching MONDO:0003846 viral esophagitis skos:exactMatch NCIT:C27108 Viral Esophagitis semapv:UnspecifiedMatching MONDO:0003846 viral esophagitis skos:exactMatch SCTID:235603003 semapv:UnspecifiedMatching MONDO:0003846 viral esophagitis skos:exactMatch UMLS:C0341110 semapv:UnspecifiedMatching MONDO:0003847 hereditary disease skos:exactMatch DOID:630 genetic disease semapv:UnspecifiedMatching MONDO:0003847 hereditary disease skos:exactMatch NCIT:C3101 Genetic Disorder semapv:UnspecifiedMatching MONDO:0003847 hereditary disease skos:exactMatch SCTID:32895009 semapv:UnspecifiedMatching MONDO:0003847 hereditary disease skos:exactMatch UMLS:C0019247 semapv:UnspecifiedMatching MONDO:0003847 hereditary disease skos:exactMatch mesh:D030342 semapv:UnspecifiedMatching MONDO:0003848 ectopic thymus skos:exactMatch DOID:6307 ectopic thymus semapv:UnspecifiedMatching MONDO:0003848 ectopic thymus skos:exactMatch NCIT:C27804 Ectopic Thymus semapv:UnspecifiedMatching MONDO:0003848 ectopic thymus skos:exactMatch UMLS:C1333375 semapv:UnspecifiedMatching MONDO:0003849 clivus chordoma skos:exactMatch DOID:6312 clivus chordoma semapv:UnspecifiedMatching MONDO:0003849 clivus chordoma skos:exactMatch NCIT:C5412 Clivus Chordoma semapv:UnspecifiedMatching MONDO:0003849 clivus chordoma skos:exactMatch SCTID:446939001 semapv:UnspecifiedMatching MONDO:0003849 clivus chordoma skos:exactMatch UMLS:C1333071 semapv:UnspecifiedMatching MONDO:0003850 clivus chondroid chordoma skos:exactMatch DOID:6313 clivus chondroid chordoma semapv:UnspecifiedMatching MONDO:0003850 clivus chondroid chordoma skos:exactMatch NCIT:C5426 Clivus Chondroid Chordoma semapv:UnspecifiedMatching MONDO:0003850 clivus chondroid chordoma skos:exactMatch UMLS:C1333072 semapv:UnspecifiedMatching MONDO:0003851 ovarian fetiform teratoma skos:exactMatch DOID:6314 ovarian fetiform teratoma semapv:UnspecifiedMatching MONDO:0003851 ovarian fetiform teratoma skos:exactMatch NCIT:C39996 Ovarian Fetiform Teratoma semapv:UnspecifiedMatching MONDO:0003851 ovarian fetiform teratoma skos:exactMatch UMLS:C1518715 semapv:UnspecifiedMatching MONDO:0003852 ovarian solid teratoma skos:exactMatch DOID:6315 ovarian solid teratoma semapv:UnspecifiedMatching MONDO:0003852 ovarian solid teratoma skos:exactMatch NCIT:C7285 Ovarian Solid Teratoma semapv:UnspecifiedMatching MONDO:0003852 ovarian solid teratoma skos:exactMatch UMLS:C1335181 semapv:UnspecifiedMatching MONDO:0003853 Bartholin gland adenocarcinoma skos:exactMatch DOID:6316 Bartholin's gland adenocarcinoma semapv:UnspecifiedMatching MONDO:0003853 Bartholin gland adenocarcinoma skos:exactMatch NCIT:C7719 Bartholin Gland Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003853 Bartholin gland adenocarcinoma skos:exactMatch UMLS:C0238016 semapv:UnspecifiedMatching MONDO:0003856 adult malignant hemangiopericytoma skos:exactMatch DOID:6332 adult malignant hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003856 adult malignant hemangiopericytoma skos:exactMatch NCIT:C7946 Malignant Adult Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003856 adult malignant hemangiopericytoma skos:exactMatch UMLS:C0279547 semapv:UnspecifiedMatching MONDO:0003857 adult intracranial malignant hemangiopericytoma skos:exactMatch DOID:6333 adult intracranial malignant hemangiopericytoma semapv:UnspecifiedMatching MONDO:0003857 adult intracranial malignant hemangiopericytoma skos:exactMatch NCIT:C9183 Adult Central Nervous System Solitary Fibrous Tumor, Grade 3 semapv:UnspecifiedMatching MONDO:0003857 adult intracranial malignant hemangiopericytoma skos:exactMatch UMLS:C1334558 semapv:UnspecifiedMatching MONDO:0003857 adult intracranial malignant hemangiopericytoma skos:exactMatch UMLS:C4331858 semapv:UnspecifiedMatching MONDO:0003858 anterior optic tract meningioma skos:exactMatch DOID:6334 anterior optic tract meningioma semapv:UnspecifiedMatching MONDO:0003858 anterior optic tract meningioma skos:exactMatch NCIT:C7538 Anterior Visual Pathway Meningioma semapv:UnspecifiedMatching MONDO:0003858 anterior optic tract meningioma skos:exactMatch UMLS:C1332308 semapv:UnspecifiedMatching MONDO:0003859 bilateral meningioma of optic nerve skos:exactMatch DOID:6335 bilateral meningioma of optic nerve semapv:UnspecifiedMatching MONDO:0003859 bilateral meningioma of optic nerve skos:exactMatch NCIT:C5304 Bilateral Optic Nerve Meningioma semapv:UnspecifiedMatching MONDO:0003859 bilateral meningioma of optic nerve skos:exactMatch UMLS:C1332551 semapv:UnspecifiedMatching MONDO:0003860 cerebellopontine angle meningioma skos:exactMatch DOID:6337 cerebellopontine angle meningioma semapv:UnspecifiedMatching MONDO:0003860 cerebellopontine angle meningioma skos:exactMatch NCIT:C5300 Cerebellopontine Angle Meningioma semapv:UnspecifiedMatching MONDO:0003860 cerebellopontine angle meningioma skos:exactMatch SCTID:126948004 semapv:UnspecifiedMatching MONDO:0003860 cerebellopontine angle meningioma skos:exactMatch UMLS:C1263882 semapv:UnspecifiedMatching MONDO:0003861 vulvar eccrine adenocarcinoma skos:exactMatch DOID:6339 vulvar eccrine adenocarcinoma semapv:UnspecifiedMatching MONDO:0003861 vulvar eccrine adenocarcinoma skos:exactMatch NCIT:C40305 Vulvar Eccrine Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003861 vulvar eccrine adenocarcinoma skos:exactMatch UMLS:C2202743 semapv:UnspecifiedMatching MONDO:0003862 melanotic psammomatous malignant peripheral nerve sheath tumor skos:exactMatch DOID:6344 melanotic psammomatous malignant peripheral nerve sheath tumor semapv:UnspecifiedMatching MONDO:0003862 melanotic psammomatous malignant peripheral nerve sheath tumor skos:exactMatch NCIT:C6910 Malignant Melanotic Psammomatous Peripheral Nerve Sheath Tumor semapv:UnspecifiedMatching MONDO:0003863 malignant melanocytic neoplasm of the peripheral nerve sheath skos:exactMatch DOID:6345 malignant melanocytic neoplasm of the peripheral nerve sheath semapv:UnspecifiedMatching MONDO:0003863 malignant melanocytic neoplasm of the peripheral nerve sheath skos:exactMatch NCIT:C4748 Malignant Melanotic Peripheral Nerve Sheath Tumor semapv:UnspecifiedMatching MONDO:0003863 malignant melanocytic neoplasm of the peripheral nerve sheath skos:exactMatch SCTID:404039004 semapv:UnspecifiedMatching MONDO:0003863 malignant melanocytic neoplasm of the peripheral nerve sheath skos:exactMatch UMLS:C0474847 semapv:UnspecifiedMatching MONDO:0003864 chronic lymphocytic leukemia/small lymphocytic lymphoma skos:exactMatch DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma semapv:UnspecifiedMatching MONDO:0003864 chronic lymphocytic leukemia/small lymphocytic lymphoma skos:exactMatch NCIT:C27911 Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma semapv:UnspecifiedMatching MONDO:0003864 chronic lymphocytic leukemia/small lymphocytic lymphoma skos:exactMatch UMLS:C1302547 semapv:UnspecifiedMatching MONDO:0003865 acral lentiginous melanoma skos:exactMatch DOID:6367 acral lentiginous melanoma semapv:UnspecifiedMatching MONDO:0003865 acral lentiginous melanoma skos:exactMatch NCIT:C4022 Acral Lentiginous Melanoma semapv:UnspecifiedMatching MONDO:0003865 acral lentiginous melanoma skos:exactMatch SCTID:254732008 semapv:UnspecifiedMatching MONDO:0003865 acral lentiginous melanoma skos:exactMatch UMLS:C0346037 semapv:UnspecifiedMatching MONDO:0003866 liver extraskeletal osteosarcoma skos:exactMatch DOID:6370 hepatic osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0003866 liver extraskeletal osteosarcoma skos:exactMatch NCIT:C5833 Liver Extraskeletal Osteosarcoma semapv:UnspecifiedMatching MONDO:0003866 liver extraskeletal osteosarcoma skos:exactMatch UMLS:C1333974 semapv:UnspecifiedMatching MONDO:0003867 diffuse meningeal melanocytosis skos:exactMatch DOID:6379 diffuse meningeal melanocytosis semapv:UnspecifiedMatching MONDO:0003867 diffuse meningeal melanocytosis skos:exactMatch NCIT:C6890 Meningeal Melanocytosis semapv:UnspecifiedMatching MONDO:0003867 diffuse meningeal melanocytosis skos:exactMatch UMLS:C1266112 semapv:UnspecifiedMatching MONDO:0003868 anterior foramen magnum meningioma skos:exactMatch DOID:6381 anterior foramen magnum meningioma semapv:UnspecifiedMatching MONDO:0003868 anterior foramen magnum meningioma skos:exactMatch NCIT:C5281 Anterior Foramen Magnum Meningioma semapv:UnspecifiedMatching MONDO:0003868 anterior foramen magnum meningioma skos:exactMatch UMLS:C1332302 semapv:UnspecifiedMatching MONDO:0003869 childhood brain stem glioma skos:exactMatch DOID:6383 childhood brain stem glioma semapv:UnspecifiedMatching MONDO:0003869 childhood brain stem glioma skos:exactMatch NCIT:C9042 Childhood Brain Stem Glioma semapv:UnspecifiedMatching MONDO:0003869 childhood brain stem glioma skos:exactMatch UMLS:C0278600 semapv:UnspecifiedMatching MONDO:0003870 childhood brainstem astrocytoma skos:exactMatch DOID:6386 childhood brainstem astrocytoma semapv:UnspecifiedMatching MONDO:0003870 childhood brainstem astrocytoma skos:exactMatch NCIT:C6216 Childhood Brain Stem Astrocytoma semapv:UnspecifiedMatching MONDO:0003870 childhood brainstem astrocytoma skos:exactMatch UMLS:C1332950 semapv:UnspecifiedMatching MONDO:0003872 ovarian papillary cystadenoma skos:exactMatch DOID:6405 ovarian papillary cystadenoma semapv:UnspecifiedMatching MONDO:0003872 ovarian papillary cystadenoma skos:exactMatch NCIT:C7278 Ovarian Papillary Cystadenoma semapv:UnspecifiedMatching MONDO:0003872 ovarian papillary cystadenoma skos:exactMatch UMLS:C1335175 semapv:UnspecifiedMatching MONDO:0003873 ovarian surface papilloma skos:exactMatch DOID:6407 ovarian surface papilloma semapv:UnspecifiedMatching MONDO:0003873 ovarian surface papilloma skos:exactMatch NCIT:C7279 Ovarian Surface Papilloma semapv:UnspecifiedMatching MONDO:0003873 ovarian surface papilloma skos:exactMatch UMLS:C1335183 semapv:UnspecifiedMatching MONDO:0003874 ovarian serous surface papillary adenocarcinoma skos:exactMatch DOID:6408 ovary papillary carcinoma semapv:UnspecifiedMatching MONDO:0003874 ovarian serous surface papillary adenocarcinoma skos:exactMatch NCIT:C6256 Ovarian Serous Surface Papillary Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003874 ovarian serous surface papillary adenocarcinoma skos:exactMatch UMLS:C1335178 semapv:UnspecifiedMatching MONDO:0003875 childhood central nervous system mature teratoma skos:exactMatch DOID:6423 childhood central nervous system mature teratoma semapv:UnspecifiedMatching MONDO:0003875 childhood central nervous system mature teratoma skos:exactMatch NCIT:C27404 Childhood Central Nervous System Mature Teratoma semapv:UnspecifiedMatching MONDO:0003875 childhood central nervous system mature teratoma skos:exactMatch UMLS:C1332955 semapv:UnspecifiedMatching MONDO:0003876 eyelid carcinoma skos:exactMatch DOID:6425 eyelid carcinoma semapv:UnspecifiedMatching MONDO:0003876 eyelid carcinoma skos:exactMatch NCIT:C6078 Eyelid Carcinoma semapv:UnspecifiedMatching MONDO:0003876 eyelid carcinoma skos:exactMatch UMLS:C0920196 semapv:UnspecifiedMatching MONDO:0003878 malignant choroid melanoma skos:exactMatch DOID:6438 malignant choroid melanoma semapv:UnspecifiedMatching MONDO:0003878 malignant choroid melanoma skos:exactMatch NCIT:C4561 Choroid Melanoma semapv:UnspecifiedMatching MONDO:0003878 malignant choroid melanoma skos:exactMatch SCTID:255021005 semapv:UnspecifiedMatching MONDO:0003878 malignant choroid melanoma skos:exactMatch UMLS:C0346388 semapv:UnspecifiedMatching MONDO:0003879 ovarian endometrioid adenocarcinofibroma skos:exactMatch DOID:6445 ovarian endometrioid malignant adenofibroma semapv:UnspecifiedMatching MONDO:0003879 ovarian endometrioid adenocarcinofibroma skos:exactMatch NCIT:C40060 Ovarian Endometrioid Adenocarcinofibroma semapv:UnspecifiedMatching MONDO:0003879 ovarian endometrioid adenocarcinofibroma skos:exactMatch UMLS:C1518711 semapv:UnspecifiedMatching MONDO:0003880 ceruminous carcinoma skos:exactMatch DOID:6446 ceruminous adenocarcinoma semapv:UnspecifiedMatching MONDO:0003880 ceruminous carcinoma skos:exactMatch NCIT:C4176 Ceruminous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003880 ceruminous carcinoma skos:exactMatch UMLS:C0334353 semapv:UnspecifiedMatching MONDO:0003881 vulvar apocrine adenocarcinoma skos:exactMatch DOID:6448 vulvar apocrine adenocarcinoma semapv:UnspecifiedMatching MONDO:0003881 vulvar apocrine adenocarcinoma skos:exactMatch NCIT:C40308 Vulvar Apocrine Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003881 vulvar apocrine adenocarcinoma skos:exactMatch UMLS:C2202741 semapv:UnspecifiedMatching MONDO:0003882 central nervous system fibrosarcoma skos:exactMatch DOID:6451 central nervous system fibrosarcoma semapv:UnspecifiedMatching MONDO:0003882 central nervous system fibrosarcoma skos:exactMatch NCIT:C5465 Central Nervous System Fibrosarcoma semapv:UnspecifiedMatching MONDO:0003882 central nervous system fibrosarcoma skos:exactMatch UMLS:C1332879 semapv:UnspecifiedMatching MONDO:0003884 lipoma of the rectum skos:exactMatch DOID:6459 rectal lipoma semapv:UnspecifiedMatching MONDO:0003884 lipoma of the rectum skos:exactMatch NCIT:C5551 Rectal Lipoma semapv:UnspecifiedMatching MONDO:0003884 lipoma of the rectum skos:exactMatch UMLS:C1335684 semapv:UnspecifiedMatching MONDO:0003885 colorectal lipoma skos:exactMatch DOID:6460 large intestine lipoma semapv:UnspecifiedMatching MONDO:0003885 colorectal lipoma skos:exactMatch NCIT:C5678 Colorectal Lipoma semapv:UnspecifiedMatching MONDO:0003885 colorectal lipoma skos:exactMatch UMLS:C1333114 semapv:UnspecifiedMatching MONDO:0003886 mucinous cystadenofibroma skos:exactMatch DOID:6468 mucinous cystadenofibroma semapv:UnspecifiedMatching MONDO:0003886 mucinous cystadenofibroma skos:exactMatch NCIT:C8979 Mucinous Cystadenofibroma semapv:UnspecifiedMatching MONDO:0003886 mucinous cystadenofibroma skos:exactMatch UMLS:C1377844 semapv:UnspecifiedMatching MONDO:0003887 ovarian mucinous adenofibroma skos:exactMatch DOID:6469 ovarian mucinous adenofibroma semapv:UnspecifiedMatching MONDO:0003887 ovarian mucinous adenofibroma skos:exactMatch NCIT:C40040 Ovarian Mucinous Adenofibroma semapv:UnspecifiedMatching MONDO:0003887 ovarian mucinous adenofibroma skos:exactMatch UMLS:C1518723 semapv:UnspecifiedMatching MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma skos:exactMatch DOID:6474 childhood teratocarcinoma of the testis semapv:UnspecifiedMatching MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma skos:exactMatch NCIT:C6539 Childhood Testicular Mixed Embryonal Carcinoma and Teratoma semapv:UnspecifiedMatching MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma skos:exactMatch UMLS:C1333008 semapv:UnspecifiedMatching MONDO:0003889 infiltrating bladder urothelial carcinoma, clear cell variant skos:exactMatch DOID:6476 clear cell variant infiltrating bladder urothelial carcinoma semapv:UnspecifiedMatching MONDO:0003889 infiltrating bladder urothelial carcinoma, clear cell variant skos:exactMatch NCIT:C39827 Invasive Bladder Clear Cell (Glycogen-Rich) Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0003889 infiltrating bladder urothelial carcinoma, clear cell variant skos:exactMatch UMLS:C1512737 semapv:UnspecifiedMatching MONDO:0003890 infiltrating bladder urothelial carcinoma skos:exactMatch DOID:6477 invasive bladder transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0003890 infiltrating bladder urothelial carcinoma skos:exactMatch NCIT:C27885 Invasive Bladder Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0003890 infiltrating bladder urothelial carcinoma skos:exactMatch UMLS:C1334281 semapv:UnspecifiedMatching MONDO:0003891 bladder signet ring cell adenocarcinoma skos:exactMatch DOID:6481 bladder signet ring cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0003891 bladder signet ring cell adenocarcinoma skos:exactMatch NCIT:C6163 Bladder Signet Ring Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003891 bladder signet ring cell adenocarcinoma skos:exactMatch UMLS:C1332563 semapv:UnspecifiedMatching MONDO:0003892 acinar lung adenocarcinoma skos:exactMatch DOID:6482 lung acinar adenocarcinoma semapv:UnspecifiedMatching MONDO:0003892 acinar lung adenocarcinoma skos:exactMatch NCIT:C5649 Lung Acinar Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003892 acinar lung adenocarcinoma skos:exactMatch UMLS:C1332137 semapv:UnspecifiedMatching MONDO:0003893 rete testis adenoma skos:exactMatch DOID:6483 rete testis adenoma semapv:UnspecifiedMatching MONDO:0003893 rete testis adenoma skos:exactMatch NCIT:C39956 Rete Testis Adenoma semapv:UnspecifiedMatching MONDO:0003893 rete testis adenoma skos:exactMatch UMLS:C1514910 semapv:UnspecifiedMatching MONDO:0003894 mediastinal melanocytic neurilemmoma skos:exactMatch DOID:6484 mediastinal melanocytic neurilemmoma semapv:UnspecifiedMatching MONDO:0003894 mediastinal melanocytic neurilemmoma skos:exactMatch NCIT:C6635 Mediastinal Melanotic Schwannoma semapv:UnspecifiedMatching MONDO:0003894 mediastinal melanocytic neurilemmoma skos:exactMatch UMLS:C1334668 semapv:UnspecifiedMatching MONDO:0003895 periosteal osteogenic sarcoma skos:exactMatch DOID:6489 periosteal osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0003895 periosteal osteogenic sarcoma skos:exactMatch NCIT:C8970 Periosteal Osteosarcoma semapv:UnspecifiedMatching MONDO:0003895 periosteal osteogenic sarcoma skos:exactMatch UMLS:C1377843 semapv:UnspecifiedMatching MONDO:0003896 breast capillary hemangioma skos:exactMatch DOID:6491 breast capillary hemangioma semapv:UnspecifiedMatching MONDO:0003896 breast capillary hemangioma skos:exactMatch NCIT:C5210 Breast Capillary Hemangioma semapv:UnspecifiedMatching MONDO:0003896 breast capillary hemangioma skos:exactMatch UMLS:C1332619 semapv:UnspecifiedMatching MONDO:0003897 breast epithelioid hemangioma skos:exactMatch DOID:6492 breast epithelioid hemangioma semapv:UnspecifiedMatching MONDO:0003897 breast epithelioid hemangioma skos:exactMatch NCIT:C5211 Breast Epithelioid Hemangioma semapv:UnspecifiedMatching MONDO:0003897 breast epithelioid hemangioma skos:exactMatch UMLS:C1332627 semapv:UnspecifiedMatching MONDO:0003898 pediatric myxoid chondrosarcoma skos:exactMatch DOID:6494 childhood myxoid chondrosarcoma semapv:UnspecifiedMatching MONDO:0003898 pediatric myxoid chondrosarcoma skos:exactMatch NCIT:C27377 Childhood Extraskeletal Myxoid Chondrosarcoma semapv:UnspecifiedMatching MONDO:0003898 pediatric myxoid chondrosarcoma skos:exactMatch UMLS:C1332984 semapv:UnspecifiedMatching MONDO:0003900 connective tissue disorder skos:exactMatch DOID:65 connective tissue disease semapv:UnspecifiedMatching MONDO:0003900 connective tissue disorder skos:exactMatch NCIT:C26729 Connective Tissue Disorder semapv:UnspecifiedMatching MONDO:0003900 connective tissue disorder skos:exactMatch SCTID:105969002 semapv:UnspecifiedMatching MONDO:0003900 connective tissue disorder skos:exactMatch UMLS:C0009782 semapv:UnspecifiedMatching MONDO:0003900 connective tissue disorder skos:exactMatch mesh:D003240 semapv:UnspecifiedMatching MONDO:0003901 cerebellar hemangioblastoma skos:exactMatch DOID:6500 cerebellar angioblastoma semapv:UnspecifiedMatching MONDO:0003901 cerebellar hemangioblastoma skos:exactMatch NCIT:C5146 Cerebellar Hemangioblastoma semapv:UnspecifiedMatching MONDO:0003901 cerebellar hemangioblastoma skos:exactMatch UMLS:C1332900 semapv:UnspecifiedMatching MONDO:0003902 brain stem hemangioblastoma skos:exactMatch DOID:6501 brain stem angioblastoma semapv:UnspecifiedMatching MONDO:0003902 brain stem hemangioblastoma skos:exactMatch NCIT:C5147 Brain Stem Hemangioblastoma semapv:UnspecifiedMatching MONDO:0003902 brain stem hemangioblastoma skos:exactMatch UMLS:C1332611 semapv:UnspecifiedMatching MONDO:0003903 benign vaginal mixed tumor skos:exactMatch DOID:6505 vaginal spindle cell epithelioma semapv:UnspecifiedMatching MONDO:0003903 benign vaginal mixed tumor skos:exactMatch NCIT:C40280 Benign Vaginal Mixed Tumor semapv:UnspecifiedMatching MONDO:0003903 benign vaginal mixed tumor skos:exactMatch UMLS:C1511107 semapv:UnspecifiedMatching MONDO:0003904 lung occult squamous cell carcinoma skos:exactMatch DOID:6510 lung occult squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0003904 lung occult squamous cell carcinoma skos:exactMatch NCIT:C6686 Occult Lung Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003904 lung occult squamous cell carcinoma skos:exactMatch UMLS:C1335100 semapv:UnspecifiedMatching MONDO:0003905 ovarian yolk sac tumor, glandular pattern skos:exactMatch DOID:6511 glandular pattern ovarian yolk sac tumor semapv:UnspecifiedMatching MONDO:0003905 ovarian yolk sac tumor, glandular pattern skos:exactMatch NCIT:C39988 Ovarian Yolk Sac Tumor, Glandular Pattern semapv:UnspecifiedMatching MONDO:0003905 ovarian yolk sac tumor, glandular pattern skos:exactMatch UMLS:C1518747 semapv:UnspecifiedMatching MONDO:0003906 ovarian yolk sac tumor, hepatoid pattern skos:exactMatch DOID:6512 hepatoid pattern ovarian yolk sac tumor semapv:UnspecifiedMatching MONDO:0003906 ovarian yolk sac tumor, hepatoid pattern skos:exactMatch NCIT:C39989 Ovarian Yolk Sac Tumor, Hepatoid Pattern semapv:UnspecifiedMatching MONDO:0003906 ovarian yolk sac tumor, hepatoid pattern skos:exactMatch UMLS:C1518748 semapv:UnspecifiedMatching MONDO:0003907 ovarian yolk sac tumor, polyvesicular vitelline pattern skos:exactMatch DOID:6514 polyvesicular vitelline pattern ovarian yolk sac tumor semapv:UnspecifiedMatching MONDO:0003907 ovarian yolk sac tumor, polyvesicular vitelline pattern skos:exactMatch NCIT:C39987 Ovarian Yolk Sac Tumor, Polyvesicular Vitelline Pattern semapv:UnspecifiedMatching MONDO:0003907 ovarian yolk sac tumor, polyvesicular vitelline pattern skos:exactMatch UMLS:C1518749 semapv:UnspecifiedMatching MONDO:0003908 clivus meningioma skos:exactMatch DOID:6517 clivus meningioma semapv:UnspecifiedMatching MONDO:0003908 clivus meningioma skos:exactMatch NCIT:C5289 Clivus Meningioma semapv:UnspecifiedMatching MONDO:0003908 clivus meningioma skos:exactMatch UMLS:C1333073 semapv:UnspecifiedMatching MONDO:0003909 Bartholin gland adenomyoma skos:exactMatch DOID:6518 Bartholin's gland adenomyoma semapv:UnspecifiedMatching MONDO:0003909 Bartholin gland adenomyoma skos:exactMatch NCIT:C40300 Bartholin Gland Adenomyoma semapv:UnspecifiedMatching MONDO:0003909 Bartholin gland adenomyoma skos:exactMatch UMLS:C1511049 semapv:UnspecifiedMatching MONDO:0003910 mixed cell uveal melanoma skos:exactMatch DOID:6522 mixed cell uveal melanoma semapv:UnspecifiedMatching MONDO:0003910 mixed cell uveal melanoma skos:exactMatch NCIT:C35781 Uveal Mixed Cell Melanoma semapv:UnspecifiedMatching MONDO:0003910 mixed cell uveal melanoma skos:exactMatch UMLS:C1334782 semapv:UnspecifiedMatching MONDO:0003911 ciliary body mixed cell melanoma skos:exactMatch DOID:6523 ciliary body mixed cell melanoma semapv:UnspecifiedMatching MONDO:0003911 ciliary body mixed cell melanoma skos:exactMatch NCIT:C35783 Ciliary Body Mixed Cell Melanoma semapv:UnspecifiedMatching MONDO:0003911 ciliary body mixed cell melanoma skos:exactMatch UMLS:C1333051 semapv:UnspecifiedMatching MONDO:0003912 malignant ciliary body melanoma skos:exactMatch DOID:6524 malignant ciliary body melanoma semapv:UnspecifiedMatching MONDO:0003912 malignant ciliary body melanoma skos:exactMatch NCIT:C4558 Ciliary Body Melanoma semapv:UnspecifiedMatching MONDO:0003912 malignant ciliary body melanoma skos:exactMatch SCTID:255015006 semapv:UnspecifiedMatching MONDO:0003912 malignant ciliary body melanoma skos:exactMatch UMLS:C0346379 semapv:UnspecifiedMatching MONDO:0003913 choroid mixed cell melanoma skos:exactMatch DOID:6525 choroid mixed cell melanoma semapv:UnspecifiedMatching MONDO:0003913 choroid mixed cell melanoma skos:exactMatch NCIT:C35782 Choroid Mixed Cell Melanoma semapv:UnspecifiedMatching MONDO:0003913 choroid mixed cell melanoma skos:exactMatch UMLS:C1333025 semapv:UnspecifiedMatching MONDO:0003915 cortical thymoma skos:exactMatch DOID:6530 thymoma type B2 semapv:UnspecifiedMatching MONDO:0003915 cortical thymoma skos:exactMatch NCIT:C6888 Thymoma Type B2 semapv:UnspecifiedMatching MONDO:0003915 cortical thymoma skos:exactMatch UMLS:C1266095 semapv:UnspecifiedMatching MONDO:0003916 overnutrition skos:exactMatch DOID:654 overnutrition semapv:UnspecifiedMatching MONDO:0003916 overnutrition skos:exactMatch SCTID:302872003 semapv:UnspecifiedMatching MONDO:0003916 overnutrition skos:exactMatch UMLS:C1257763 semapv:UnspecifiedMatching MONDO:0003916 overnutrition skos:exactMatch mesh:D044343 semapv:UnspecifiedMatching MONDO:0003917 heart lymphoma skos:exactMatch DOID:6547 heart lymphoma semapv:UnspecifiedMatching MONDO:0003917 heart lymphoma skos:exactMatch NCIT:C5368 Cardiac Lymphoma semapv:UnspecifiedMatching MONDO:0003917 heart lymphoma skos:exactMatch UMLS:C1332850 semapv:UnspecifiedMatching MONDO:0003918 angiomatous meningioma skos:exactMatch DOID:6548 angiomatous meningioma semapv:UnspecifiedMatching MONDO:0003918 angiomatous meningioma skos:exactMatch NCIT:C4332 Angiomatous Meningioma semapv:UnspecifiedMatching MONDO:0003918 angiomatous meningioma skos:exactMatch UMLS:C0334608 semapv:UnspecifiedMatching MONDO:0003921 posterior foramen magnum meningioma skos:exactMatch DOID:6553 posterior foramen magnum meningioma semapv:UnspecifiedMatching MONDO:0003921 posterior foramen magnum meningioma skos:exactMatch NCIT:C5282 Posterior Foramen Magnum Meningioma semapv:UnspecifiedMatching MONDO:0003921 posterior foramen magnum meningioma skos:exactMatch UMLS:C1335449 semapv:UnspecifiedMatching MONDO:0003922 ovarian clear cell malignant adenofibroma skos:exactMatch DOID:6554 ovarian clear cell malignant adenofibroma semapv:UnspecifiedMatching MONDO:0003922 ovarian clear cell malignant adenofibroma skos:exactMatch NCIT:C40079 Ovarian Clear Cell Adenocarcinofibroma semapv:UnspecifiedMatching MONDO:0003922 ovarian clear cell malignant adenofibroma skos:exactMatch UMLS:C2075522 semapv:UnspecifiedMatching MONDO:0003923 ethmoid sinus Schneiderian papilloma skos:exactMatch DOID:6559 ethmoid sinus Schneiderian papilloma semapv:UnspecifiedMatching MONDO:0003923 ethmoid sinus Schneiderian papilloma skos:exactMatch NCIT:C6836 Ethmoid Sinus Papilloma semapv:UnspecifiedMatching MONDO:0003923 ethmoid sinus Schneiderian papilloma skos:exactMatch UMLS:C1333476 semapv:UnspecifiedMatching MONDO:0003924 adrenal cortex adenoma skos:exactMatch DOID:0050891 adrenal cortical adenoma semapv:UnspecifiedMatching MONDO:0003924 adrenal cortex adenoma skos:exactMatch DOID:656 adrenal adenoma semapv:UnspecifiedMatching MONDO:0003924 adrenal cortex adenoma skos:exactMatch NCIT:C9003 Adrenal Cortical Adenoma semapv:UnspecifiedMatching MONDO:0003924 adrenal cortex adenoma skos:exactMatch SCTID:302826002 semapv:UnspecifiedMatching MONDO:0003924 adrenal cortex adenoma skos:exactMatch UMLS:C0206667 semapv:UnspecifiedMatching MONDO:0003924 adrenal cortex adenoma skos:exactMatch mesh:D018246 semapv:UnspecifiedMatching MONDO:0003925 ethmoid sinus inverted papilloma skos:exactMatch DOID:6562 ethmoid sinus inverted papilloma semapv:UnspecifiedMatching MONDO:0003925 ethmoid sinus inverted papilloma skos:exactMatch NCIT:C6843 Ethmoid Sinus Inverted Papilloma semapv:UnspecifiedMatching MONDO:0003925 ethmoid sinus inverted papilloma skos:exactMatch UMLS:C1333474 semapv:UnspecifiedMatching MONDO:0003926 neurilemmoma of the pleura skos:exactMatch DOID:6564 neurilemmoma of the pleura semapv:UnspecifiedMatching MONDO:0003926 neurilemmoma of the pleura skos:exactMatch NCIT:C5418 Pleural Schwannoma semapv:UnspecifiedMatching MONDO:0003926 neurilemmoma of the pleura skos:exactMatch UMLS:C1335435 semapv:UnspecifiedMatching MONDO:0003927 posterior uveal melanoma skos:exactMatch DOID:6566 posterior uveal melanoma semapv:UnspecifiedMatching MONDO:0003928 uterine corpus myxoid leiomyosarcoma skos:exactMatch DOID:6567 uterine corpus myxoid leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003928 uterine corpus myxoid leiomyosarcoma skos:exactMatch NCIT:C40175 Uterine Corpus Myxoid Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0003928 uterine corpus myxoid leiomyosarcoma skos:exactMatch UMLS:C1519861 semapv:UnspecifiedMatching MONDO:0003929 vestibular micropapillomatosis skos:exactMatch DOID:6569 micropapillomatosis labialis semapv:UnspecifiedMatching MONDO:0003929 vestibular micropapillomatosis skos:exactMatch NCIT:C40290 Vulvar Squamous Papillomatosis semapv:UnspecifiedMatching MONDO:0003929 vestibular micropapillomatosis skos:exactMatch UMLS:C1519982 semapv:UnspecifiedMatching MONDO:0003930 non-invasive bladder urothelial carcinoma skos:exactMatch DOID:6571 non-invasive bladder urothelial carcinoma semapv:UnspecifiedMatching MONDO:0003930 non-invasive bladder urothelial carcinoma skos:exactMatch NCIT:C6188 Stage 0 Bladder Urothelial Carcinoma AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0003930 non-invasive bladder urothelial carcinoma skos:exactMatch UMLS:C1336089 semapv:UnspecifiedMatching MONDO:0003931 childhood optic tract astrocytoma skos:exactMatch DOID:6575 childhood optic tract astrocytoma semapv:UnspecifiedMatching MONDO:0003931 childhood optic tract astrocytoma skos:exactMatch NCIT:C7534 Childhood Visual Pathway Astrocytoma semapv:UnspecifiedMatching MONDO:0003931 childhood optic tract astrocytoma skos:exactMatch UMLS:C1333014 semapv:UnspecifiedMatching MONDO:0003932 childhood optic nerve glioma skos:exactMatch DOID:6576 childhood optic nerve glioma semapv:UnspecifiedMatching MONDO:0003932 childhood optic nerve glioma skos:exactMatch NCIT:C7535 Childhood Visual Pathway Glioma semapv:UnspecifiedMatching MONDO:0003933 chest wall bone cancer skos:exactMatch DOID:6579 chest wall bone cancer semapv:UnspecifiedMatching MONDO:0003933 chest wall bone cancer skos:exactMatch NCIT:C6724 Malignant Chest Wall Bone Neoplasm semapv:UnspecifiedMatching MONDO:0003933 chest wall bone cancer skos:exactMatch UMLS:C1334572 semapv:UnspecifiedMatching MONDO:0003934 breast apocrine carcinoma skos:exactMatch DOID:6581 breast apocrine carcinoma semapv:UnspecifiedMatching MONDO:0003934 breast apocrine carcinoma skos:exactMatch NCIT:C5141 Breast Apocrine Carcinoma semapv:UnspecifiedMatching MONDO:0003934 breast apocrine carcinoma skos:exactMatch UMLS:C1332316 semapv:UnspecifiedMatching MONDO:0003935 oncocytic breast carcinoma skos:exactMatch DOID:6585 breast oncocytic carcinoma semapv:UnspecifiedMatching MONDO:0003935 oncocytic breast carcinoma skos:exactMatch NCIT:C40366 Breast Oncocytic Carcinoma semapv:UnspecifiedMatching MONDO:0003935 oncocytic breast carcinoma skos:exactMatch UMLS:C1518574 semapv:UnspecifiedMatching MONDO:0003936 invasive tubular breast carcinoma skos:exactMatch DOID:6587 breast tubular carcinoma semapv:UnspecifiedMatching MONDO:0003936 invasive tubular breast carcinoma skos:exactMatch NCIT:C9135 Breast Tubular Carcinoma semapv:UnspecifiedMatching MONDO:0003936 invasive tubular breast carcinoma skos:exactMatch UMLS:C1328544 semapv:UnspecifiedMatching MONDO:0003937 spondylitis skos:exactMatch DOID:6590 spondylitis semapv:UnspecifiedMatching MONDO:0003937 spondylitis skos:exactMatch SCTID:84172003 semapv:UnspecifiedMatching MONDO:0003937 spondylitis skos:exactMatch mesh:D013166 semapv:UnspecifiedMatching MONDO:0003938 bladder colonic type adenocarcinoma skos:exactMatch DOID:6594 bladder colonic type adenocarcinoma semapv:UnspecifiedMatching MONDO:0003938 bladder colonic type adenocarcinoma skos:exactMatch NCIT:C39835 Bladder Enteric Type Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003938 bladder colonic type adenocarcinoma skos:exactMatch UMLS:C1511188 semapv:UnspecifiedMatching MONDO:0003939 muscle tissue disorder skos:exactMatch DOID:0080000 muscular disease semapv:UnspecifiedMatching MONDO:0003939 muscle tissue disorder skos:exactMatch DOID:66 muscle tissue disease semapv:UnspecifiedMatching MONDO:0003939 muscle tissue disorder skos:exactMatch ICD10CM:M60-M63 Disorders of muscles (M60-M63) semapv:UnspecifiedMatching MONDO:0003939 muscle tissue disorder skos:exactMatch mesh:D009135 semapv:UnspecifiedMatching MONDO:0003940 Kummell disease skos:exactMatch DOID:6603 Kummell's disease semapv:UnspecifiedMatching MONDO:0003940 Kummell disease skos:exactMatch ICD10CM:M48.3 Traumatic spondylopathy semapv:UnspecifiedMatching MONDO:0003940 Kummell disease skos:exactMatch SCTID:111232005 semapv:UnspecifiedMatching MONDO:0003940 Kummell disease skos:exactMatch UMLS:C0152088 semapv:UnspecifiedMatching MONDO:0003941 classic variant of chromophobe renal cell carcinoma skos:exactMatch DOID:6605 classic variant of chromophobe renal cell carcinoma semapv:UnspecifiedMatching MONDO:0003941 classic variant of chromophobe renal cell carcinoma skos:exactMatch NCIT:C27888 Classic Variant of Chromophobe Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003941 classic variant of chromophobe renal cell carcinoma skos:exactMatch UMLS:C1333062 semapv:UnspecifiedMatching MONDO:0003942 eosinophilic variant of chromophobe renal cell carcinoma skos:exactMatch DOID:6606 eosinophilic variant of chromophobe renal cell carcinoma semapv:UnspecifiedMatching MONDO:0003942 eosinophilic variant of chromophobe renal cell carcinoma skos:exactMatch NCIT:C27889 Eosinophilic Variant of Chromophobe Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0003942 eosinophilic variant of chromophobe renal cell carcinoma skos:exactMatch UMLS:C1333405 semapv:UnspecifiedMatching MONDO:0003943 central nervous system hibernoma skos:exactMatch DOID:6607 nervous system hibernoma semapv:UnspecifiedMatching MONDO:0003943 central nervous system hibernoma skos:exactMatch NCIT:C6997 Central Nervous System Hibernoma semapv:UnspecifiedMatching MONDO:0003943 central nervous system hibernoma skos:exactMatch UMLS:C1708362 semapv:UnspecifiedMatching MONDO:0003944 endobronchial leiomyoma skos:exactMatch DOID:6608 endobronchial leiomyoma semapv:UnspecifiedMatching MONDO:0003944 endobronchial leiomyoma skos:exactMatch NCIT:C5661 Endobronchial Leiomyoma semapv:UnspecifiedMatching MONDO:0003944 endobronchial leiomyoma skos:exactMatch UMLS:C1333386 semapv:UnspecifiedMatching MONDO:0003945 bone epithelioid hemangioma skos:exactMatch DOID:6610 bone epithelioid hemangioma semapv:UnspecifiedMatching MONDO:0003945 bone epithelioid hemangioma skos:exactMatch NCIT:C5396 Bone Epithelioid Hemangioma semapv:UnspecifiedMatching MONDO:0003945 bone epithelioid hemangioma skos:exactMatch UMLS:C1332575 semapv:UnspecifiedMatching MONDO:0003946 vaginal villous adenoma skos:exactMatch DOID:6613 vaginal villous adenoma semapv:UnspecifiedMatching MONDO:0003946 vaginal villous adenoma skos:exactMatch NCIT:C40259 Vaginal Villous Adenoma semapv:UnspecifiedMatching MONDO:0003946 vaginal villous adenoma skos:exactMatch UMLS:C1519936 semapv:UnspecifiedMatching MONDO:0003947 hyper-IgM syndrome skos:exactMatch DOID:0080544 hyper IgM syndrome semapv:UnspecifiedMatching MONDO:0003947 hyper-IgM syndrome skos:exactMatch NCIT:C3990 Hyperimmunoglobulin M Syndrome semapv:UnspecifiedMatching MONDO:0003947 hyper-IgM syndrome skos:exactMatch NCIT:C84783 Immunodeficiency with Hyper-IgM semapv:UnspecifiedMatching MONDO:0003947 hyper-IgM syndrome skos:exactMatch OMIMPS:308230 semapv:UnspecifiedMatching MONDO:0003947 hyper-IgM syndrome skos:exactMatch SCTID:82286005 semapv:UnspecifiedMatching MONDO:0003947 hyper-IgM syndrome skos:exactMatch UMLS:C0272236 semapv:UnspecifiedMatching MONDO:0003947 hyper-IgM syndrome skos:exactMatch mesh:D053306 semapv:UnspecifiedMatching MONDO:0003948 cerebral hemangioma skos:exactMatch DOID:6621 cerebral angioma semapv:UnspecifiedMatching MONDO:0003948 cerebral hemangioma skos:exactMatch NCIT:C5433 Cerebral Hemangioma semapv:UnspecifiedMatching MONDO:0003948 cerebral hemangioma skos:exactMatch UMLS:C0877388 semapv:UnspecifiedMatching MONDO:0003950 nipple carcinoma skos:exactMatch DOID:6629 nipple carcinoma semapv:UnspecifiedMatching MONDO:0003950 nipple carcinoma skos:exactMatch NCIT:C28432 Nipple Carcinoma semapv:UnspecifiedMatching MONDO:0003950 nipple carcinoma skos:exactMatch UMLS:C1334966 semapv:UnspecifiedMatching MONDO:0003951 scrotal hemangioma skos:exactMatch DOID:663 scrotal angioma semapv:UnspecifiedMatching MONDO:0003951 scrotal hemangioma skos:exactMatch NCIT:C6387 Scrotal Hemangioma semapv:UnspecifiedMatching MONDO:0003951 scrotal hemangioma skos:exactMatch UMLS:C1335936 semapv:UnspecifiedMatching MONDO:0003952 adult central nervous system choriocarcinoma skos:exactMatch DOID:6634 adult central nervous system choriocarcinoma semapv:UnspecifiedMatching MONDO:0003952 adult central nervous system choriocarcinoma skos:exactMatch NCIT:C5793 Adult Central Nervous System Choriocarcinoma semapv:UnspecifiedMatching MONDO:0003952 adult central nervous system choriocarcinoma skos:exactMatch UMLS:C1370505 semapv:UnspecifiedMatching MONDO:0003953 pediatric CNS choriocarcinoma skos:exactMatch DOID:6639 childhood CNS choriocarcinoma semapv:UnspecifiedMatching MONDO:0003953 pediatric CNS choriocarcinoma skos:exactMatch NCIT:C6206 Childhood Central Nervous System Choriocarcinoma semapv:UnspecifiedMatching MONDO:0003953 pediatric CNS choriocarcinoma skos:exactMatch UMLS:C1377604 semapv:UnspecifiedMatching MONDO:0003954 angiokeratoma of Fordyce skos:exactMatch DOID:664 angiokeratoma of Fordyce semapv:UnspecifiedMatching MONDO:0003954 angiokeratoma of Fordyce skos:exactMatch SCTID:6331000 semapv:UnspecifiedMatching MONDO:0003954 angiokeratoma of Fordyce skos:exactMatch UMLS:C0263639 semapv:UnspecifiedMatching MONDO:0003955 juvenile breast papillomatosis skos:exactMatch DOID:6641 breast juvenile papillomatosis semapv:UnspecifiedMatching MONDO:0003955 juvenile breast papillomatosis skos:exactMatch NCIT:C9503 Juvenile Breast Papillomatosis semapv:UnspecifiedMatching MONDO:0003955 juvenile breast papillomatosis skos:exactMatch SCTID:708518001 semapv:UnspecifiedMatching MONDO:0003955 juvenile breast papillomatosis skos:exactMatch UMLS:C1334303 semapv:UnspecifiedMatching MONDO:0003956 Baastrup syndrome skos:exactMatch DOID:6643 Baastrup's syndrome semapv:UnspecifiedMatching MONDO:0003956 Baastrup syndrome skos:exactMatch SCTID:82304009 semapv:UnspecifiedMatching MONDO:0003956 Baastrup syndrome skos:exactMatch UMLS:C0158248 semapv:UnspecifiedMatching MONDO:0003957 adult pineoblastoma skos:exactMatch DOID:6648 adult pineoblastoma semapv:UnspecifiedMatching MONDO:0003957 adult pineoblastoma skos:exactMatch NCIT:C8292 Adult Pineoblastoma semapv:UnspecifiedMatching MONDO:0003957 adult pineoblastoma skos:exactMatch UMLS:C0281332 semapv:UnspecifiedMatching MONDO:0003958 childhood central nervous system immature teratoma skos:exactMatch DOID:6654 childhood central nervous system immature teratoma semapv:UnspecifiedMatching MONDO:0003958 childhood central nervous system immature teratoma skos:exactMatch NCIT:C27405 Childhood Central Nervous System Immature Teratoma semapv:UnspecifiedMatching MONDO:0003958 childhood central nervous system immature teratoma skos:exactMatch UMLS:C1332954 semapv:UnspecifiedMatching MONDO:0003959 breast large cell neuroendocrine carcinoma skos:exactMatch DOID:6657 breast large cell neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0003959 breast large cell neuroendocrine carcinoma skos:exactMatch NCIT:C40356 Breast Large Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0003959 breast large cell neuroendocrine carcinoma skos:exactMatch UMLS:C1511316 semapv:UnspecifiedMatching MONDO:0003960 pulmonary large cell neuroendocrine carcinoma skos:exactMatch DOID:6658 pulmonary large cell neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0003960 pulmonary large cell neuroendocrine carcinoma skos:exactMatch NCIT:C5672 Lung Large Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0003960 pulmonary large cell neuroendocrine carcinoma skos:exactMatch UMLS:C1334363 semapv:UnspecifiedMatching MONDO:0003962 Froelich syndrome skos:exactMatch DOID:6676 Froelich syndrome semapv:UnspecifiedMatching MONDO:0003962 Froelich syndrome skos:exactMatch NCIT:C34625 Frohlich Syndrome semapv:UnspecifiedMatching MONDO:0003962 Froelich syndrome skos:exactMatch SCTID:62999006 semapv:UnspecifiedMatching MONDO:0003963 diffuse infiltrative lymphocytosis syndrome skos:exactMatch DOID:6677 diffuse infiltrative lymphocytosis syndrome semapv:UnspecifiedMatching MONDO:0003963 diffuse infiltrative lymphocytosis syndrome skos:exactMatch NCIT:C35699 Diffuse Infiltrative Lymphocytosis Syndrome semapv:UnspecifiedMatching MONDO:0003963 diffuse infiltrative lymphocytosis syndrome skos:exactMatch SCTID:449784008 semapv:UnspecifiedMatching MONDO:0003963 diffuse infiltrative lymphocytosis syndrome skos:exactMatch UMLS:C1333292 semapv:UnspecifiedMatching MONDO:0003964 myositis ossificans skos:exactMatch DOID:668 myositis ossificans semapv:UnspecifiedMatching MONDO:0003964 myositis ossificans skos:exactMatch NCIT:C3253 Myositis Ossificans semapv:UnspecifiedMatching MONDO:0003964 myositis ossificans skos:exactMatch UMLS:C0027122 semapv:UnspecifiedMatching MONDO:0003964 myositis ossificans skos:exactMatch mesh:D009221 semapv:UnspecifiedMatching MONDO:0003965 Capgras syndrome skos:exactMatch DOID:6680 Capgras syndrome semapv:UnspecifiedMatching MONDO:0003965 Capgras syndrome skos:exactMatch NCIT:C34446 Capgras Syndrome semapv:UnspecifiedMatching MONDO:0003965 Capgras syndrome skos:exactMatch mesh:D002194 semapv:UnspecifiedMatching MONDO:0003966 testicular monophasic choriocarcinoma skos:exactMatch DOID:6693 testicular monophasic choriocarcinoma semapv:UnspecifiedMatching MONDO:0003966 testicular monophasic choriocarcinoma skos:exactMatch NCIT:C39935 Testicular Monophasic Choriocarcinoma semapv:UnspecifiedMatching MONDO:0003966 testicular monophasic choriocarcinoma skos:exactMatch UMLS:C1515290 semapv:UnspecifiedMatching MONDO:0003967 synchronous multifocal osteogenic sarcoma skos:exactMatch DOID:6696 synchronous multifocal osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0003967 synchronous multifocal osteogenic sarcoma skos:exactMatch NCIT:C6471 Synchronous Multifocal Osteosarcoma semapv:UnspecifiedMatching MONDO:0003967 synchronous multifocal osteogenic sarcoma skos:exactMatch UMLS:C1336544 semapv:UnspecifiedMatching MONDO:0003968 asynchronous multifocal osteogenic sarcoma skos:exactMatch DOID:6697 asynchronous multifocal osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0003968 asynchronous multifocal osteogenic sarcoma skos:exactMatch NCIT:C6472 Asynchronous Multifocal Osteosarcoma semapv:UnspecifiedMatching MONDO:0003968 asynchronous multifocal osteogenic sarcoma skos:exactMatch UMLS:C1332342 semapv:UnspecifiedMatching MONDO:0003969 amphetamine abuse skos:exactMatch DOID:670 amphetamine abuse semapv:UnspecifiedMatching MONDO:0003969 amphetamine abuse skos:exactMatch SCTID:84758004 semapv:UnspecifiedMatching MONDO:0003969 amphetamine abuse skos:exactMatch mesh:D019969 semapv:UnspecifiedMatching MONDO:0003970 gastric fundus carcinoma skos:exactMatch DOID:6700 gastric fundus carcinoma semapv:UnspecifiedMatching MONDO:0003970 gastric fundus carcinoma skos:exactMatch NCIT:C8398 Gastric Fundus Carcinoma semapv:UnspecifiedMatching MONDO:0003970 gastric fundus carcinoma skos:exactMatch SCTID:254555008 semapv:UnspecifiedMatching MONDO:0003970 gastric fundus carcinoma skos:exactMatch UMLS:C0345799 semapv:UnspecifiedMatching MONDO:0003971 gastric pylorus carcinoma skos:exactMatch DOID:6703 gastric pylorus carcinoma semapv:UnspecifiedMatching MONDO:0003971 gastric pylorus carcinoma skos:exactMatch NCIT:C6795 Gastric Pylorus Carcinoma semapv:UnspecifiedMatching MONDO:0003971 gastric pylorus carcinoma skos:exactMatch UMLS:C1333787 semapv:UnspecifiedMatching MONDO:0003972 gastric body carcinoma skos:exactMatch DOID:6705 gastric body carcinoma semapv:UnspecifiedMatching MONDO:0003972 gastric body carcinoma skos:exactMatch NCIT:C8399 Gastric Body Carcinoma semapv:UnspecifiedMatching MONDO:0003972 gastric body carcinoma skos:exactMatch SCTID:254557000 semapv:UnspecifiedMatching MONDO:0003972 gastric body carcinoma skos:exactMatch UMLS:C0345804 semapv:UnspecifiedMatching MONDO:0003973 tubular variant testicular seminoma skos:exactMatch DOID:6706 tubular variant testicular seminoma semapv:UnspecifiedMatching MONDO:0003973 tubular variant testicular seminoma skos:exactMatch NCIT:C40959 Testicular Seminoma, Tubular Variant semapv:UnspecifiedMatching MONDO:0003973 tubular variant testicular seminoma skos:exactMatch UMLS:C1515294 semapv:UnspecifiedMatching MONDO:0003975 Littre gland carcinoma skos:exactMatch DOID:6721 Littre gland carcinoma semapv:UnspecifiedMatching MONDO:0003975 Littre gland carcinoma skos:exactMatch NCIT:C39865 Littre Gland Adenocarcinoma of the Urethra semapv:UnspecifiedMatching MONDO:0003975 Littre gland carcinoma skos:exactMatch UMLS:C1516285 semapv:UnspecifiedMatching MONDO:0003976 malignant type AB thymoma skos:exactMatch DOID:6723 malignant type AB thymoma semapv:UnspecifiedMatching MONDO:0003976 malignant type AB thymoma skos:exactMatch NCIT:C6886 Malignant Type AB Thymoma semapv:UnspecifiedMatching MONDO:0003976 malignant type AB thymoma skos:exactMatch UMLS:C1266093 semapv:UnspecifiedMatching MONDO:0003978 colon small cell neuroendocrine carcinoma skos:exactMatch DOID:6727 colon small cell carcinoma semapv:UnspecifiedMatching MONDO:0003978 colon small cell neuroendocrine carcinoma skos:exactMatch NCIT:C6761 Colon Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0003978 colon small cell neuroendocrine carcinoma skos:exactMatch UMLS:C1333099 semapv:UnspecifiedMatching MONDO:0003979 intrahepatic bile duct cystadenoma skos:exactMatch DOID:6733 intrahepatic bile duct cystadenoma semapv:UnspecifiedMatching MONDO:0003979 intrahepatic bile duct cystadenoma skos:exactMatch NCIT:C96835 Intrahepatic Bile Duct Mucinous Cystic Neoplasm semapv:UnspecifiedMatching MONDO:0003979 intrahepatic bile duct cystadenoma skos:exactMatch UMLS:C1334257 semapv:UnspecifiedMatching MONDO:0003980 schwannoma of jugular foramen skos:exactMatch DOID:6735 schwannoma of jugular foramen semapv:UnspecifiedMatching MONDO:0003980 schwannoma of jugular foramen skos:exactMatch NCIT:C5323 Jugular Foramen Schwannoma semapv:UnspecifiedMatching MONDO:0003980 schwannoma of jugular foramen skos:exactMatch UMLS:C1334300 semapv:UnspecifiedMatching MONDO:0003982 bilateral breast carcinoma skos:exactMatch DOID:6741 bilateral breast cancer semapv:UnspecifiedMatching MONDO:0003982 bilateral breast carcinoma skos:exactMatch NCIT:C8287 Bilateral Breast Carcinoma semapv:UnspecifiedMatching MONDO:0003982 bilateral breast carcinoma skos:exactMatch UMLS:C0281267 semapv:UnspecifiedMatching MONDO:0003983 synchronous bilateral breast carcinoma skos:exactMatch DOID:6742 synchronous bilateral breast carcinoma semapv:UnspecifiedMatching MONDO:0003983 synchronous bilateral breast carcinoma skos:exactMatch NCIT:C40370 Synchronous Bilateral Breast Carcinoma semapv:UnspecifiedMatching MONDO:0003983 synchronous bilateral breast carcinoma skos:exactMatch UMLS:C1515107 semapv:UnspecifiedMatching MONDO:0003984 internal auditory canal lipoma skos:exactMatch DOID:6752 internal auditory canal lipoma semapv:UnspecifiedMatching MONDO:0003984 internal auditory canal lipoma skos:exactMatch NCIT:C5452 Inner Ear Lipoma semapv:UnspecifiedMatching MONDO:0003984 internal auditory canal lipoma skos:exactMatch UMLS:C1334226 semapv:UnspecifiedMatching MONDO:0003985 chest wall lymphoma skos:exactMatch DOID:6758 chest wall lymphoma semapv:UnspecifiedMatching MONDO:0003985 chest wall lymphoma skos:exactMatch NCIT:C6712 Chest Wall Lymphoma semapv:UnspecifiedMatching MONDO:0003985 chest wall lymphoma skos:exactMatch UMLS:C1332933 semapv:UnspecifiedMatching MONDO:0003987 lung lymphoma skos:exactMatch DOID:6760 lung lymphoma semapv:UnspecifiedMatching MONDO:0003987 lung lymphoma skos:exactMatch NCIT:C4794 Lung Lymphoma semapv:UnspecifiedMatching MONDO:0003987 lung lymphoma skos:exactMatch UMLS:C1704383 semapv:UnspecifiedMatching MONDO:0003988 sternum lymphoma skos:exactMatch DOID:6762 sternum lymphoma semapv:UnspecifiedMatching MONDO:0003988 sternum lymphoma skos:exactMatch NCIT:C6716 Sternal Lymphoma semapv:UnspecifiedMatching MONDO:0003988 sternum lymphoma skos:exactMatch UMLS:C1336504 semapv:UnspecifiedMatching MONDO:0003989 polyembryoma of the ovary skos:exactMatch DOID:6774 polyembryoma of the ovary semapv:UnspecifiedMatching MONDO:0003989 polyembryoma of the ovary skos:exactMatch NCIT:C39990 Ovarian Polyembryoma semapv:UnspecifiedMatching MONDO:0003989 polyembryoma of the ovary skos:exactMatch UMLS:C1514199 semapv:UnspecifiedMatching MONDO:0003990 malignant breast myoepithelioma skos:exactMatch DOID:6776 breast myoepithelial carcinoma semapv:UnspecifiedMatching MONDO:0003990 malignant breast myoepithelioma skos:exactMatch NCIT:C40395 Breast Malignant Myoepithelioma semapv:UnspecifiedMatching MONDO:0003990 malignant breast myoepithelioma skos:exactMatch UMLS:C1518167 semapv:UnspecifiedMatching MONDO:0003991 villoglandular endometrial endometrioid adenocarcinoma skos:exactMatch DOID:6777 villoglandular endometrial endometrioid adenocarcinoma semapv:UnspecifiedMatching MONDO:0003991 villoglandular endometrial endometrioid adenocarcinoma skos:exactMatch NCIT:C27846 Villoglandular Endometrial Endometrioid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0003991 villoglandular endometrial endometrioid adenocarcinoma skos:exactMatch UMLS:C1336962 semapv:UnspecifiedMatching MONDO:0003992 childhood botryoid rhabdomyosarcoma skos:exactMatch DOID:6786 childhood botryoid rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0003992 childhood botryoid rhabdomyosarcoma skos:exactMatch NCIT:C35574 Childhood Botryoid-Type Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0003992 childhood botryoid rhabdomyosarcoma skos:exactMatch UMLS:C1332944 semapv:UnspecifiedMatching MONDO:0003993 childhood vagina botryoid rhabdomyosarcoma skos:exactMatch DOID:6787 childhood vagina botryoid rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0003993 childhood vagina botryoid rhabdomyosarcoma skos:exactMatch NCIT:C35556 Childhood Vaginal Botryoid-Type Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0003993 childhood vagina botryoid rhabdomyosarcoma skos:exactMatch UMLS:C1332945 semapv:UnspecifiedMatching MONDO:0003994 botryoid-type embryonal rhabdomyosarcoma of the vagina skos:exactMatch DOID:6788 vagina botryoid rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0003994 botryoid-type embryonal rhabdomyosarcoma of the vagina skos:exactMatch NCIT:C40268 Vaginal Botryoid-Type Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0003994 botryoid-type embryonal rhabdomyosarcoma of the vagina skos:exactMatch UMLS:C1511275 semapv:UnspecifiedMatching MONDO:0003995 vulvar childhood botryoid-type embryonal rhabdomyosarcoma skos:exactMatch DOID:6789 vulvar childhood botryoid-type embryonal rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0003995 vulvar childhood botryoid-type embryonal rhabdomyosarcoma skos:exactMatch NCIT:C36098 Childhood Vulvar Botryoid-Type Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0003995 vulvar childhood botryoid-type embryonal rhabdomyosarcoma skos:exactMatch UMLS:C1332946 semapv:UnspecifiedMatching MONDO:0003996 basal ganglia disorder skos:exactMatch DOID:679 basal ganglia disease semapv:UnspecifiedMatching MONDO:0003996 basal ganglia disorder skos:exactMatch SCTID:70835005 semapv:UnspecifiedMatching MONDO:0003996 basal ganglia disorder skos:exactMatch UMLS:C4520981 semapv:UnspecifiedMatching MONDO:0003996 basal ganglia disorder skos:exactMatch mesh:D001480 semapv:UnspecifiedMatching MONDO:0003997 colon Kaposi sarcoma skos:exactMatch DOID:6804 colon Kaposi sarcoma semapv:UnspecifiedMatching MONDO:0003997 colon Kaposi sarcoma skos:exactMatch NCIT:C5516 Colon Kaposi Sarcoma semapv:UnspecifiedMatching MONDO:0003997 colon Kaposi sarcoma skos:exactMatch UMLS:C1333091 semapv:UnspecifiedMatching MONDO:0003998 obsolete vaginal tubular adenoma skos:exactMatch DOID:6809 obsolete vaginal tubular adenoma semapv:UnspecifiedMatching MONDO:0003998 obsolete vaginal tubular adenoma skos:exactMatch NCIT:C40257 Vaginal Tubular Adenoma semapv:UnspecifiedMatching MONDO:0003998 obsolete vaginal tubular adenoma skos:exactMatch UMLS:C1519932 semapv:UnspecifiedMatching MONDO:0003999 juvenile pilocytic astrocytoma skos:exactMatch DOID:6811 juvenile pilocytic astrocytoma semapv:UnspecifiedMatching MONDO:0003999 juvenile pilocytic astrocytoma skos:exactMatch NCIT:C27081 Juvenile Pilocytic Astrocytoma semapv:UnspecifiedMatching MONDO:0003999 juvenile pilocytic astrocytoma skos:exactMatch UMLS:C0280783 semapv:UnspecifiedMatching MONDO:0004000 childhood pilocytic astrocytoma skos:exactMatch DOID:6812 childhood pilocytic astrocytoma semapv:UnspecifiedMatching MONDO:0004000 childhood pilocytic astrocytoma skos:exactMatch NCIT:C4048 Childhood Pilocytic Astrocytoma semapv:UnspecifiedMatching MONDO:0004000 childhood pilocytic astrocytoma skos:exactMatch UMLS:C1332995 semapv:UnspecifiedMatching MONDO:0004001 compartment syndrome skos:exactMatch DOID:682 compartment syndrome semapv:UnspecifiedMatching MONDO:0004001 compartment syndrome skos:exactMatch NCIT:C118422 Compartment Syndrome semapv:UnspecifiedMatching MONDO:0004001 compartment syndrome skos:exactMatch SCTID:111245009 semapv:UnspecifiedMatching MONDO:0004001 compartment syndrome skos:exactMatch UMLS:C0009492 semapv:UnspecifiedMatching MONDO:0004001 compartment syndrome skos:exactMatch mesh:D003161 semapv:UnspecifiedMatching MONDO:0004004 motor nerve neuritis skos:exactMatch DOID:683 motor neuritis semapv:UnspecifiedMatching MONDO:0004004 motor nerve neuritis skos:exactMatch UMLS:C0235025 semapv:UnspecifiedMatching MONDO:0004005 rete ovarii adenoma skos:exactMatch DOID:6837 rete ovarii adenoma semapv:UnspecifiedMatching MONDO:0004005 rete ovarii adenoma skos:exactMatch NCIT:C40018 Rete Ovarii Adenoma semapv:UnspecifiedMatching MONDO:0004005 rete ovarii adenoma skos:exactMatch UMLS:C1514905 semapv:UnspecifiedMatching MONDO:0004006 rete ovarii cystadenofibroma skos:exactMatch DOID:6838 rete ovarii cystadenofibroma semapv:UnspecifiedMatching MONDO:0004006 rete ovarii cystadenofibroma skos:exactMatch NCIT:C40020 Rete Ovarii Cystadenofibroma semapv:UnspecifiedMatching MONDO:0004006 rete ovarii cystadenofibroma skos:exactMatch UMLS:C1514906 semapv:UnspecifiedMatching MONDO:0004007 breast intraductal proliferative lesion skos:exactMatch DOID:6839 breast intraductal proliferative lesion semapv:UnspecifiedMatching MONDO:0004007 breast intraductal proliferative lesion skos:exactMatch NCIT:C27942 Breast Intraductal Proliferative Lesion semapv:UnspecifiedMatching MONDO:0004007 breast intraductal proliferative lesion skos:exactMatch UMLS:C1334631 semapv:UnspecifiedMatching MONDO:0004008 flat ductal epithelial atypia skos:exactMatch DOID:6841 flat ductal epithelial atypia semapv:UnspecifiedMatching MONDO:0004008 flat ductal epithelial atypia skos:exactMatch NCIT:C36086 Breast Flat Ductal Epithelial Atypia semapv:UnspecifiedMatching MONDO:0004008 flat ductal epithelial atypia skos:exactMatch UMLS:C1333620 semapv:UnspecifiedMatching MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma skos:exactMatch DOID:6844 kidney pelvis sarcomatoid transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma skos:exactMatch NCIT:C6186 Invasive Renal Pelvis Sarcomatoid Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma skos:exactMatch UMLS:C1335752 semapv:UnspecifiedMatching MONDO:0004010 infiltrating renal pelvis/ureter urothelial carcinoma skos:exactMatch NCIT:C39879 Invasive Renal Pelvis and Ureter Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004010 infiltrating renal pelvis/ureter urothelial carcinoma skos:exactMatch UMLS:C1512750 semapv:UnspecifiedMatching MONDO:0004012 adult botryoid rhabdomyosarcoma skos:exactMatch DOID:6847 adult botryoid rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0004012 adult botryoid rhabdomyosarcoma skos:exactMatch NCIT:C36099 Adult Botryoid-Type Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0004012 adult botryoid rhabdomyosarcoma skos:exactMatch UMLS:C1332185 semapv:UnspecifiedMatching MONDO:0004013 adult vagina botryoid embryonal rhabdomyosarcoma skos:exactMatch DOID:6848 adult vagina botryoid rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0004013 adult vagina botryoid embryonal rhabdomyosarcoma skos:exactMatch NCIT:C40267 Adult Vaginal Botryoid-Type Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0004013 adult vagina botryoid embryonal rhabdomyosarcoma skos:exactMatch UMLS:C1515893 semapv:UnspecifiedMatching MONDO:0004014 ethmoid sinus ectopic meningioma skos:exactMatch DOID:6854 ethmoid sinus ectopic meningioma semapv:UnspecifiedMatching MONDO:0004014 ethmoid sinus ectopic meningioma skos:exactMatch NCIT:C5309 Ethmoid Sinus Primary Ectopic Meningioma semapv:UnspecifiedMatching MONDO:0004014 ethmoid sinus ectopic meningioma skos:exactMatch UMLS:C1333475 semapv:UnspecifiedMatching MONDO:0004015 pineal region teratoma skos:exactMatch DOID:6856 pineal region teratoma semapv:UnspecifiedMatching MONDO:0004015 pineal region teratoma skos:exactMatch NCIT:C6753 Pineal Region Teratoma semapv:UnspecifiedMatching MONDO:0004015 pineal region teratoma skos:exactMatch UMLS:C1335419 semapv:UnspecifiedMatching MONDO:0004016 pineal region mature teratoma skos:exactMatch DOID:6857 pineal region mature teratoma semapv:UnspecifiedMatching MONDO:0004016 pineal region mature teratoma skos:exactMatch NCIT:C6754 Pineal Region Mature Teratoma semapv:UnspecifiedMatching MONDO:0004016 pineal region mature teratoma skos:exactMatch UMLS:C1335417 semapv:UnspecifiedMatching MONDO:0004017 pineal region immature teratoma skos:exactMatch DOID:6858 pineal region immature teratoma semapv:UnspecifiedMatching MONDO:0004017 pineal region immature teratoma skos:exactMatch NCIT:C6755 Pineal Region Immature Teratoma semapv:UnspecifiedMatching MONDO:0004017 pineal region immature teratoma skos:exactMatch UMLS:C1335416 semapv:UnspecifiedMatching MONDO:0004019 oxyphilic endometrial endometrioid adenocarcinoma skos:exactMatch DOID:6865 oxyphilic endometrial endometrioid adenocarcinoma semapv:UnspecifiedMatching MONDO:0004019 oxyphilic endometrial endometrioid adenocarcinoma skos:exactMatch NCIT:C27849 Oxyphilic Endometrial Endometrioid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004019 oxyphilic endometrial endometrioid adenocarcinoma skos:exactMatch UMLS:C1518768 semapv:UnspecifiedMatching MONDO:0004020 mediastinal gray zone lymphoma skos:exactMatch DOID:6867 mediastinal gray zone lymphoma semapv:UnspecifiedMatching MONDO:0004020 mediastinal gray zone lymphoma skos:exactMatch NCIT:C37870 Mediastinal Gray-Zone Lymphoma semapv:UnspecifiedMatching MONDO:0004020 mediastinal gray zone lymphoma skos:exactMatch UMLS:C1334657 semapv:UnspecifiedMatching MONDO:0004021 mediastinal malignant lymphoma skos:exactMatch DOID:6868 mediastinal malignant lymphoma semapv:UnspecifiedMatching MONDO:0004021 mediastinal malignant lymphoma skos:exactMatch NCIT:C6633 Mediastinal Lymphoma semapv:UnspecifiedMatching MONDO:0004021 mediastinal malignant lymphoma skos:exactMatch UMLS:C1334665 semapv:UnspecifiedMatching MONDO:0004022 parasagittal meningioma skos:exactMatch DOID:6869 parasagittal meningioma semapv:UnspecifiedMatching MONDO:0004022 parasagittal meningioma skos:exactMatch NCIT:C4960 Parasagittal Meningioma semapv:UnspecifiedMatching MONDO:0004022 parasagittal meningioma skos:exactMatch UMLS:C0751304 semapv:UnspecifiedMatching MONDO:0004024 spinal cord neuroblastoma skos:exactMatch DOID:6871 spinal cord neuroblastoma semapv:UnspecifiedMatching MONDO:0004024 spinal cord neuroblastoma skos:exactMatch NCIT:C5155 Spinal Cord Neuroblastoma semapv:UnspecifiedMatching MONDO:0004024 spinal cord neuroblastoma skos:exactMatch UMLS:C1336046 semapv:UnspecifiedMatching MONDO:0004026 skin tag skos:exactMatch DOID:6873 skin tag semapv:UnspecifiedMatching MONDO:0004026 skin tag skos:exactMatch NCIT:C3374 Skin Tag semapv:UnspecifiedMatching MONDO:0004026 skin tag skos:exactMatch SCTID:201091002 semapv:UnspecifiedMatching MONDO:0004026 skin tag skos:exactMatch UMLS:C0037293 semapv:UnspecifiedMatching MONDO:0004028 small intestinal fibrosarcoma skos:exactMatch DOID:6880 small bowel fibrosarcoma semapv:UnspecifiedMatching MONDO:0004028 small intestinal fibrosarcoma skos:exactMatch NCIT:C5336 Small Intestinal Fibrosarcoma semapv:UnspecifiedMatching MONDO:0004028 small intestinal fibrosarcoma skos:exactMatch UMLS:C1335994 semapv:UnspecifiedMatching MONDO:0004030 ureter transitional cell carcinoma skos:exactMatch DOID:6888 ureter transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0004030 ureter transitional cell carcinoma skos:exactMatch NCIT:C4830 Ureter Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004030 ureter transitional cell carcinoma skos:exactMatch SCTID:300988009 semapv:UnspecifiedMatching MONDO:0004030 ureter transitional cell carcinoma skos:exactMatch UMLS:C0577692 semapv:UnspecifiedMatching MONDO:0004031 ovary mixed epithelial carcinoma skos:exactMatch DOID:6898 ovarian seromucinous carcinoma semapv:UnspecifiedMatching MONDO:0004032 ovarian seromucinous carcinoma skos:exactMatch NCIT:C40090 Ovarian Seromucinous Carcinoma semapv:UnspecifiedMatching MONDO:0004032 ovarian seromucinous carcinoma skos:exactMatch UMLS:C0279392 semapv:UnspecifiedMatching MONDO:0004034 eye lymphoma skos:exactMatch DOID:6903 eye lymphoma semapv:UnspecifiedMatching MONDO:0004034 eye lymphoma skos:exactMatch NCIT:C35690 Eye Lymphoma semapv:UnspecifiedMatching MONDO:0004034 eye lymphoma skos:exactMatch UMLS:C0730306 semapv:UnspecifiedMatching MONDO:0004035 glomangiomatosis skos:exactMatch DOID:6906 glomangiomatosis semapv:UnspecifiedMatching MONDO:0004035 glomangiomatosis skos:exactMatch NCIT:C27496 Glomangiomatosis semapv:UnspecifiedMatching MONDO:0004035 glomangiomatosis skos:exactMatch UMLS:C1333824 semapv:UnspecifiedMatching MONDO:0004037 retinal edema skos:exactMatch DOID:6929 retinal edema semapv:UnspecifiedMatching MONDO:0004037 retinal edema skos:exactMatch SCTID:6141006 semapv:UnspecifiedMatching MONDO:0004038 dental enamel hypoplasia skos:exactMatch DOID:693 dental enamel hypoplasia semapv:UnspecifiedMatching MONDO:0004038 dental enamel hypoplasia skos:exactMatch NCIT:C34529 Enamel Hypoplasia semapv:UnspecifiedMatching MONDO:0004038 dental enamel hypoplasia skos:exactMatch SCTID:26597004 semapv:UnspecifiedMatching MONDO:0004038 dental enamel hypoplasia skos:exactMatch UMLS:C0011351 semapv:UnspecifiedMatching MONDO:0004038 dental enamel hypoplasia skos:exactMatch mesh:D003744 semapv:UnspecifiedMatching MONDO:0004039 papillary extrahepatic bile duct adenocarcinoma skos:exactMatch DOID:6931 papillary extrahepatic bile duct adenocarcinoma semapv:UnspecifiedMatching MONDO:0004040 urinary bladder inverted papilloma skos:exactMatch DOID:6932 urinary bladder inverted papilloma semapv:UnspecifiedMatching MONDO:0004040 urinary bladder inverted papilloma skos:exactMatch NCIT:C39859 Bladder Inverted Papilloma semapv:UnspecifiedMatching MONDO:0004040 urinary bladder inverted papilloma skos:exactMatch SCTID:447765004 semapv:UnspecifiedMatching MONDO:0004040 urinary bladder inverted papilloma skos:exactMatch UMLS:C1511190 semapv:UnspecifiedMatching MONDO:0004041 urothelial papilloma skos:exactMatch DOID:6933 bladder transitional cell papilloma semapv:UnspecifiedMatching MONDO:0004041 urothelial papilloma skos:exactMatch NCIT:C3842 Urothelial Papilloma semapv:UnspecifiedMatching MONDO:0004042 urethra inverted papilloma skos:exactMatch DOID:6934 urethra inverted papilloma semapv:UnspecifiedMatching MONDO:0004042 urethra inverted papilloma skos:exactMatch NCIT:C6173 Urethral Inverted Papilloma semapv:UnspecifiedMatching MONDO:0004042 urethra inverted papilloma skos:exactMatch UMLS:C1336887 semapv:UnspecifiedMatching MONDO:0004043 ureter inverted papilloma skos:exactMatch DOID:6935 ureter inverted papilloma semapv:UnspecifiedMatching MONDO:0004043 ureter inverted papilloma skos:exactMatch NCIT:C6174 Ureter Inverted Papilloma semapv:UnspecifiedMatching MONDO:0004043 ureter inverted papilloma skos:exactMatch UMLS:C1336874 semapv:UnspecifiedMatching MONDO:0004044 ureter urothelial papilloma skos:exactMatch DOID:6936 ureter urothelial papilloma semapv:UnspecifiedMatching MONDO:0004044 ureter urothelial papilloma skos:exactMatch NCIT:C6160 Ureter Urothelial Papilloma semapv:UnspecifiedMatching MONDO:0004044 ureter urothelial papilloma skos:exactMatch UMLS:C1519823 semapv:UnspecifiedMatching MONDO:0004045 pediatric intraocular retinoblastoma skos:exactMatch DOID:6938 childhood intraocular retinoblastoma semapv:UnspecifiedMatching MONDO:0004045 pediatric intraocular retinoblastoma skos:exactMatch NCIT:C9047 Childhood Intraocular Retinoblastoma semapv:UnspecifiedMatching MONDO:0004045 pediatric intraocular retinoblastoma skos:exactMatch UMLS:C1321869 semapv:UnspecifiedMatching MONDO:0004046 childhood brain meningioma skos:exactMatch DOID:6939 childhood brain meningioma semapv:UnspecifiedMatching MONDO:0004046 childhood brain meningioma skos:exactMatch NCIT:C6253 Childhood Intracranial Meningioma semapv:UnspecifiedMatching MONDO:0004046 childhood brain meningioma skos:exactMatch UMLS:C1332949 semapv:UnspecifiedMatching MONDO:0004047 sphenoidal sinus neoplasm skos:exactMatch DOID:6947 sphenoidal sinus benign neoplasm semapv:UnspecifiedMatching MONDO:0004047 sphenoidal sinus neoplasm skos:exactMatch NCIT:C6792 Sphenoid Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0004047 sphenoidal sinus neoplasm skos:exactMatch SCTID:126679002 semapv:UnspecifiedMatching MONDO:0004047 sphenoidal sinus neoplasm skos:exactMatch UMLS:C0345676 semapv:UnspecifiedMatching MONDO:0004048 immature gastric teratoma skos:exactMatch DOID:6948 malignant gastric teratoma semapv:UnspecifiedMatching MONDO:0004048 immature gastric teratoma skos:exactMatch NCIT:C5256 Gastric Immature Teratoma semapv:UnspecifiedMatching MONDO:0004048 immature gastric teratoma skos:exactMatch UMLS:C1334151 semapv:UnspecifiedMatching MONDO:0004049 combat disorder skos:exactMatch DOID:6950 combat disorder semapv:UnspecifiedMatching MONDO:0004049 combat disorder skos:exactMatch SCTID:279611005 semapv:UnspecifiedMatching MONDO:0004049 combat disorder skos:exactMatch mesh:D003130 semapv:UnspecifiedMatching MONDO:0004050 telangiectatic osteogenic sarcoma skos:exactMatch DOID:6951 telangiectatic osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0004050 telangiectatic osteogenic sarcoma skos:exactMatch NCIT:C3902 Telangiectatic Osteosarcoma semapv:UnspecifiedMatching MONDO:0004050 telangiectatic osteogenic sarcoma skos:exactMatch UMLS:C0259782 semapv:UnspecifiedMatching MONDO:0004051 aleukemic monocytic leukemia cutis skos:exactMatch DOID:6958 aleukemic monocytic leukemia cutis semapv:UnspecifiedMatching MONDO:0004051 aleukemic monocytic leukemia cutis skos:exactMatch NCIT:C5630 Aleukemic Monocytic Leukemia Cutis semapv:UnspecifiedMatching MONDO:0004051 aleukemic monocytic leukemia cutis skos:exactMatch UMLS:C1332232 semapv:UnspecifiedMatching MONDO:0004052 rectal cloacogenic carcinoma skos:exactMatch DOID:6959 rectal cloacogenic carcinoma semapv:UnspecifiedMatching MONDO:0004052 rectal cloacogenic carcinoma skos:exactMatch NCIT:C5555 Rectal Cloacogenic Carcinoma semapv:UnspecifiedMatching MONDO:0004052 rectal cloacogenic carcinoma skos:exactMatch UMLS:C1333074 semapv:UnspecifiedMatching MONDO:0004053 bartholin gland squamous cell carcinoma skos:exactMatch DOID:6961 Bartholin's gland squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004053 bartholin gland squamous cell carcinoma skos:exactMatch NCIT:C40293 Bartholin Gland Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004053 bartholin gland squamous cell carcinoma skos:exactMatch UMLS:C1511052 semapv:UnspecifiedMatching MONDO:0004054 acute canaliculitis skos:exactMatch DOID:6969 acute canaliculitis semapv:UnspecifiedMatching MONDO:0004054 acute canaliculitis skos:exactMatch SCTID:84399007 semapv:UnspecifiedMatching MONDO:0004054 acute canaliculitis skos:exactMatch UMLS:C0339130 semapv:UnspecifiedMatching MONDO:0004055 acute inflammation of lacrimal passage skos:exactMatch DOID:6970 acute inflammation of lacrimal passage semapv:UnspecifiedMatching MONDO:0004055 acute inflammation of lacrimal passage skos:exactMatch SCTID:302900006 semapv:UnspecifiedMatching MONDO:0004055 acute inflammation of lacrimal passage skos:exactMatch UMLS:C0339129 semapv:UnspecifiedMatching MONDO:0004056 bladder papillary urothelial carcinoma skos:exactMatch DOID:6975 bladder urothelial papillary carcinoma semapv:UnspecifiedMatching MONDO:0004056 bladder papillary urothelial carcinoma skos:exactMatch NCIT:C7383 Bladder Papillary Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004056 bladder papillary urothelial carcinoma skos:exactMatch UMLS:C1518882 semapv:UnspecifiedMatching MONDO:0004057 micropapillary variant infiltrating bladder urothelial carcinoma skos:exactMatch DOID:6976 micropapillary variant infiltrating bladder urothelial carcinoma semapv:UnspecifiedMatching MONDO:0004057 micropapillary variant infiltrating bladder urothelial carcinoma skos:exactMatch NCIT:C27202 Invasive Bladder Micropapillary Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004057 micropapillary variant infiltrating bladder urothelial carcinoma skos:exactMatch UMLS:C1517579 semapv:UnspecifiedMatching MONDO:0004058 pancreatic cholera skos:exactMatch DOID:6977 pancreatic cholera semapv:UnspecifiedMatching MONDO:0004058 pancreatic cholera skos:exactMatch NCIT:C3488 WDHA Syndrome semapv:UnspecifiedMatching MONDO:0004058 pancreatic cholera skos:exactMatch SCTID:39998009 semapv:UnspecifiedMatching MONDO:0004059 dentin sensitivity skos:exactMatch DOID:698 dentin sensitivity semapv:UnspecifiedMatching MONDO:0004059 dentin sensitivity skos:exactMatch SCTID:13468005 semapv:UnspecifiedMatching MONDO:0004059 dentin sensitivity skos:exactMatch UMLS:C0011432 semapv:UnspecifiedMatching MONDO:0004059 dentin sensitivity skos:exactMatch mesh:D003807 semapv:UnspecifiedMatching MONDO:0004060 peripheral epithelioid sarcoma skos:exactMatch DOID:6988 peripheral epithelioid sarcoma semapv:UnspecifiedMatching MONDO:0004060 peripheral epithelioid sarcoma skos:exactMatch NCIT:C27473 Distal-Type Epithelioid Sarcoma semapv:UnspecifiedMatching MONDO:0004060 peripheral epithelioid sarcoma skos:exactMatch UMLS:C1333306 semapv:UnspecifiedMatching MONDO:0004062 intermediate cell type uveal melanoma skos:exactMatch DOID:6992 intraocular mixed cell type melanoma semapv:UnspecifiedMatching MONDO:0004062 intermediate cell type uveal melanoma skos:exactMatch NCIT:C7989 Uveal Intermediate Cell Type Melanoma semapv:UnspecifiedMatching MONDO:0004062 intermediate cell type uveal melanoma skos:exactMatch UMLS:C0279693 semapv:UnspecifiedMatching MONDO:0004063 intermediate cell type iris melanoma skos:exactMatch DOID:6993 iris mixed cell melanoma semapv:UnspecifiedMatching MONDO:0004063 intermediate cell type iris melanoma skos:exactMatch NCIT:C6101 Iris Intermediate Cell Type Melanoma semapv:UnspecifiedMatching MONDO:0004063 intermediate cell type iris melanoma skos:exactMatch UMLS:C1334210 semapv:UnspecifiedMatching MONDO:0004064 iris melanoma skos:exactMatch DOID:6994 malignant iris melanoma semapv:UnspecifiedMatching MONDO:0004064 iris melanoma skos:exactMatch NCIT:C9088 Iris Melanoma semapv:UnspecifiedMatching MONDO:0004064 iris melanoma skos:exactMatch SCTID:255012009 semapv:UnspecifiedMatching MONDO:0004064 iris melanoma skos:exactMatch UMLS:C0346373 semapv:UnspecifiedMatching MONDO:0004065 intermediate cell type choroid melanoma skos:exactMatch DOID:6996 intermediate cell type choroid melanoma semapv:UnspecifiedMatching MONDO:0004065 intermediate cell type choroid melanoma skos:exactMatch NCIT:C6100 Choroid Intermediate Cell Type Melanoma semapv:UnspecifiedMatching MONDO:0004065 intermediate cell type choroid melanoma skos:exactMatch UMLS:C1334208 semapv:UnspecifiedMatching MONDO:0004066 intermediate cell type ciliary body melanoma skos:exactMatch DOID:6997 intermediate cell type ciliary body melanoma semapv:UnspecifiedMatching MONDO:0004066 intermediate cell type ciliary body melanoma skos:exactMatch NCIT:C6118 Ciliary Body Intermediate Cell Type Melanoma semapv:UnspecifiedMatching MONDO:0004066 intermediate cell type ciliary body melanoma skos:exactMatch UMLS:C1334209 semapv:UnspecifiedMatching MONDO:0004067 gallbladder mucinous adenocarcinoma skos:exactMatch DOID:6998 gallbladder mucinous carcinoma semapv:UnspecifiedMatching MONDO:0004067 gallbladder mucinous adenocarcinoma skos:exactMatch NCIT:C5744 Gallbladder Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004067 gallbladder mucinous adenocarcinoma skos:exactMatch UMLS:C1333750 semapv:UnspecifiedMatching MONDO:0004069 inborn mitochondrial metabolism disorder skos:exactMatch DOID:700 mitochondrial metabolism disease semapv:UnspecifiedMatching MONDO:0004069 inborn mitochondrial metabolism disorder skos:exactMatch Orphanet:68380 Mitochondrial disease semapv:UnspecifiedMatching MONDO:0004069 inborn mitochondrial metabolism disorder skos:exactMatch mesh:D028361 semapv:UnspecifiedMatching MONDO:0004071 childhood cerebral astrocytoma skos:exactMatch DOID:7007 childhood cerebral astrocytoma semapv:UnspecifiedMatching MONDO:0004071 childhood cerebral astrocytoma skos:exactMatch NCIT:C4347 Childhood Cerebral Astrocytoma semapv:UnspecifiedMatching MONDO:0004071 childhood cerebral astrocytoma skos:exactMatch UMLS:C0338070 semapv:UnspecifiedMatching MONDO:0004074 ovarian mucinous cystadenofibroma skos:exactMatch DOID:7013 ovarian mucinous cystadenofibroma semapv:UnspecifiedMatching MONDO:0004074 ovarian mucinous cystadenofibroma skos:exactMatch NCIT:C40041 Ovarian Mucinous Cystadenofibroma semapv:UnspecifiedMatching MONDO:0004074 ovarian mucinous cystadenofibroma skos:exactMatch UMLS:C1518725 semapv:UnspecifiedMatching MONDO:0004075 infiltrating lipoma skos:exactMatch DOID:7014 infiltrating lipoma semapv:UnspecifiedMatching MONDO:0004075 infiltrating lipoma skos:exactMatch NCIT:C7451 Infiltrating Lipoma semapv:UnspecifiedMatching MONDO:0004075 infiltrating lipoma skos:exactMatch UMLS:C0334473 semapv:UnspecifiedMatching MONDO:0004076 tendon sheath lipoma skos:exactMatch DOID:7016 tendon sheath lipoma semapv:UnspecifiedMatching MONDO:0004076 tendon sheath lipoma skos:exactMatch NCIT:C6499 Tendon Sheath Lipoma semapv:UnspecifiedMatching MONDO:0004076 tendon sheath lipoma skos:exactMatch UMLS:C1336703 semapv:UnspecifiedMatching MONDO:0004077 lumbosacral lipoma skos:exactMatch DOID:7017 lumbosacral lipoma semapv:UnspecifiedMatching MONDO:0004077 lumbosacral lipoma skos:exactMatch NCIT:C6500 Lumbosacral Lipoma semapv:UnspecifiedMatching MONDO:0004077 lumbosacral lipoma skos:exactMatch UMLS:C1334438 semapv:UnspecifiedMatching MONDO:0004078 mucinous intrahepatic cholangiocarcinoma skos:exactMatch DOID:7024 mucinous intrahepatic cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0004078 mucinous intrahepatic cholangiocarcinoma skos:exactMatch NCIT:C41618 Mucin-Producing Intrahepatic Cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0004078 mucinous intrahepatic cholangiocarcinoma skos:exactMatch UMLS:C1513718 semapv:UnspecifiedMatching MONDO:0004079 lung mucous gland adenoma skos:exactMatch DOID:7030 bronchial mucus gland adenoma semapv:UnspecifiedMatching MONDO:0004079 lung mucous gland adenoma skos:exactMatch NCIT:C5664 Lung Mucous Gland Adenoma semapv:UnspecifiedMatching MONDO:0004079 lung mucous gland adenoma skos:exactMatch UMLS:C1332640 semapv:UnspecifiedMatching MONDO:0004080 glottis squamous cell carcinoma skos:exactMatch DOID:7031 glottis squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004080 glottis squamous cell carcinoma skos:exactMatch NCIT:C8186 Glottic Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004080 glottis squamous cell carcinoma skos:exactMatch UMLS:C0280325 semapv:UnspecifiedMatching MONDO:0004081 extrahepatic bile duct clear cell adenocarcinoma skos:exactMatch DOID:7032 bile duct clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0004081 extrahepatic bile duct clear cell adenocarcinoma skos:exactMatch NCIT:C5775 Extrahepatic Bile Duct Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004081 extrahepatic bile duct clear cell adenocarcinoma skos:exactMatch UMLS:C0861855 semapv:UnspecifiedMatching MONDO:0004082 childhood immature teratoma of ovary skos:exactMatch DOID:7037 childhood immature teratoma of ovary semapv:UnspecifiedMatching MONDO:0004082 childhood immature teratoma of ovary skos:exactMatch NCIT:C6547 Childhood Ovarian Immature Teratoma semapv:UnspecifiedMatching MONDO:0004082 childhood immature teratoma of ovary skos:exactMatch UMLS:C1332990 semapv:UnspecifiedMatching MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma skos:exactMatch DOID:7039 Borst-Jadassohn intraepidermal carcinoma semapv:UnspecifiedMatching MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma skos:exactMatch NCIT:C4110 Intraepidermal Epithelioma of Jadassohn semapv:UnspecifiedMatching MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma skos:exactMatch SCTID:403886007 semapv:UnspecifiedMatching MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma skos:exactMatch UMLS:C0334260 semapv:UnspecifiedMatching MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma skos:exactMatch UMLS:C2937231 semapv:UnspecifiedMatching MONDO:0004085 choroid epithelioid cell melanoma skos:exactMatch DOID:7041 choroid epithelioid cell melanoma semapv:UnspecifiedMatching MONDO:0004085 choroid epithelioid cell melanoma skos:exactMatch NCIT:C6102 Choroid Epithelioid Cell Melanoma semapv:UnspecifiedMatching MONDO:0004085 choroid epithelioid cell melanoma skos:exactMatch UMLS:C1333024 semapv:UnspecifiedMatching MONDO:0004086 ciliary body epithelioid cell melanoma skos:exactMatch DOID:7042 ciliary body epithelioid cell melanoma semapv:UnspecifiedMatching MONDO:0004086 ciliary body epithelioid cell melanoma skos:exactMatch NCIT:C6119 Ciliary Body Epithelioid Cell Melanoma semapv:UnspecifiedMatching MONDO:0004086 ciliary body epithelioid cell melanoma skos:exactMatch UMLS:C1333050 semapv:UnspecifiedMatching MONDO:0004087 basaloid large cell lung carcinoma skos:exactMatch DOID:7045 basaloid lung carcinoma semapv:UnspecifiedMatching MONDO:0004087 basaloid large cell lung carcinoma skos:exactMatch NCIT:C7266 Lung Basaloid Large Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004087 basaloid large cell lung carcinoma skos:exactMatch UMLS:C1332463 semapv:UnspecifiedMatching MONDO:0004088 cervical basaloid carcinoma skos:exactMatch DOID:7046 cervical basaloid squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004088 cervical basaloid carcinoma skos:exactMatch NCIT:C40189 Cervical Basaloid Carcinoma semapv:UnspecifiedMatching MONDO:0004088 cervical basaloid carcinoma skos:exactMatch UMLS:C1511063 semapv:UnspecifiedMatching MONDO:0004089 basaloid carcinoma of the penis skos:exactMatch DOID:7047 penis basaloid carcinoma semapv:UnspecifiedMatching MONDO:0004089 basaloid carcinoma of the penis skos:exactMatch NCIT:C6980 Penile Basaloid Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004089 basaloid carcinoma of the penis skos:exactMatch UMLS:C1332462 semapv:UnspecifiedMatching MONDO:0004090 vulvar basaloid squamous cell carcinoma skos:exactMatch DOID:7048 vulvar basaloid squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004090 vulvar basaloid squamous cell carcinoma skos:exactMatch NCIT:C40286 Vulvar Basaloid Carcinoma semapv:UnspecifiedMatching MONDO:0004090 vulvar basaloid squamous cell carcinoma skos:exactMatch UMLS:C2211850 semapv:UnspecifiedMatching MONDO:0004091 skin basaloid carcinoma skos:exactMatch DOID:7049 basaloid squamous cell skin carcinoma semapv:UnspecifiedMatching MONDO:0004091 skin basaloid carcinoma skos:exactMatch NCIT:C27543 Skin Basaloid Carcinoma semapv:UnspecifiedMatching MONDO:0004091 skin basaloid carcinoma skos:exactMatch UMLS:C1335973 semapv:UnspecifiedMatching MONDO:0004092 thymic basaloid carcinoma skos:exactMatch DOID:7050 thymus basaloid carcinoma semapv:UnspecifiedMatching MONDO:0004092 thymic basaloid carcinoma skos:exactMatch NCIT:C6456 Thymic Basaloid Carcinoma semapv:UnspecifiedMatching MONDO:0004092 thymic basaloid carcinoma skos:exactMatch UMLS:C1332464 semapv:UnspecifiedMatching MONDO:0004093 esophageal basaloid carcinoma skos:exactMatch DOID:7051 esophageal basaloid squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004093 esophageal basaloid carcinoma skos:exactMatch NCIT:C7032 Esophageal Basaloid Carcinoma semapv:UnspecifiedMatching MONDO:0004093 esophageal basaloid carcinoma skos:exactMatch UMLS:C1333443 semapv:UnspecifiedMatching MONDO:0004094 multiple skull base meningioma skos:exactMatch DOID:7054 multiple skull base meningioma semapv:UnspecifiedMatching MONDO:0004094 multiple skull base meningioma skos:exactMatch NCIT:C5279 Multiple Skull Base Meningiomas semapv:UnspecifiedMatching MONDO:0004094 multiple skull base meningioma skos:exactMatch UMLS:C1334829 semapv:UnspecifiedMatching MONDO:0004095 B-cell neoplasm skos:exactMatch DOID:707 B-cell lymphoma semapv:UnspecifiedMatching MONDO:0004095 B-cell neoplasm skos:exactMatch NCIT:C27907 B-Cell Neoplasm semapv:UnspecifiedMatching MONDO:0004095 B-cell neoplasm skos:exactMatch mesh:D016393 semapv:UnspecifiedMatching MONDO:0004096 spinal cord dermoid cyst skos:exactMatch DOID:7071 spinal cord dermoid cyst semapv:UnspecifiedMatching MONDO:0004096 spinal cord dermoid cyst skos:exactMatch NCIT:C6808 Dermoid Cyst of the Spinal Cord semapv:UnspecifiedMatching MONDO:0004096 spinal cord dermoid cyst skos:exactMatch UMLS:C1333278 semapv:UnspecifiedMatching MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum skos:exactMatch DOID:7077 malignant melanocytic peripheral nerve sheath tumor of mediastinum semapv:UnspecifiedMatching MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum skos:exactMatch NCIT:C6630 Malignant Melanotic Peripheral Nerve Sheath Tumor of the Mediastinum semapv:UnspecifiedMatching MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum skos:exactMatch UMLS:C1334600 semapv:UnspecifiedMatching MONDO:0004099 adult cystic teratoma skos:exactMatch DOID:7079 adult cystic teratoma semapv:UnspecifiedMatching MONDO:0004099 adult cystic teratoma skos:exactMatch NCIT:C9012 Adult Cystic Teratoma semapv:UnspecifiedMatching MONDO:0004099 adult cystic teratoma skos:exactMatch UMLS:C1368888 semapv:UnspecifiedMatching MONDO:0004100 lung mixed small cell and squamous cell carcinoma skos:exactMatch DOID:7081 lung mixed small cell and squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004100 lung mixed small cell and squamous cell carcinoma skos:exactMatch NCIT:C9423 Combined Lung Small Cell and Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004100 lung mixed small cell and squamous cell carcinoma skos:exactMatch UMLS:C1334788 semapv:UnspecifiedMatching MONDO:0004101 multicentric papillary thyroid carcinoma skos:exactMatch DOID:7086 multicentric papillary thyroid carcinoma semapv:UnspecifiedMatching MONDO:0004101 multicentric papillary thyroid carcinoma skos:exactMatch NCIT:C37304 Multicentric Thyroid Gland Papillary Carcinoma semapv:UnspecifiedMatching MONDO:0004101 multicentric papillary thyroid carcinoma skos:exactMatch UMLS:C1334817 semapv:UnspecifiedMatching MONDO:0004102 columnar cell variant thyroid gland papillary carcinoma skos:exactMatch DOID:7088 columnar cell variant papillary carcinoma semapv:UnspecifiedMatching MONDO:0004102 columnar cell variant thyroid gland papillary carcinoma skos:exactMatch NCIT:C35830 Columnar Cell Variant Thyroid Gland Papillary Carcinoma semapv:UnspecifiedMatching MONDO:0004102 columnar cell variant thyroid gland papillary carcinoma skos:exactMatch UMLS:C1333120 semapv:UnspecifiedMatching MONDO:0004103 tall cell variant thyroid gland papillary carcinoma skos:exactMatch DOID:7089 tall cell variant papillary carcinoma semapv:UnspecifiedMatching MONDO:0004103 tall cell variant thyroid gland papillary carcinoma skos:exactMatch NCIT:C35558 Tall Cell Variant Thyroid Gland Papillary Carcinoma semapv:UnspecifiedMatching MONDO:0004103 tall cell variant thyroid gland papillary carcinoma skos:exactMatch UMLS:C1336695 semapv:UnspecifiedMatching MONDO:0004104 splenic manifestation of hairy cell leukemia skos:exactMatch DOID:709 splenic manifestation of hairy cell leukemia semapv:UnspecifiedMatching MONDO:0004104 splenic manifestation of hairy cell leukemia skos:exactMatch NCIT:C7301 Splenic Manifestation of Hairy Cell Leukemia semapv:UnspecifiedMatching MONDO:0004104 splenic manifestation of hairy cell leukemia skos:exactMatch SCTID:93151007 semapv:UnspecifiedMatching MONDO:0004104 splenic manifestation of hairy cell leukemia skos:exactMatch UMLS:C1336064 semapv:UnspecifiedMatching MONDO:0004105 childhood epithelioid sarcoma skos:exactMatch DOID:7095 childhood epithelioid sarcoma semapv:UnspecifiedMatching MONDO:0004105 childhood epithelioid sarcoma skos:exactMatch NCIT:C8095 Childhood Epithelioid Sarcoma semapv:UnspecifiedMatching MONDO:0004105 childhood epithelioid sarcoma skos:exactMatch UMLS:C0279989 semapv:UnspecifiedMatching MONDO:0004106 testicular yolk sac tumor, macrocystic pattern skos:exactMatch DOID:7097 macrocystic pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004106 testicular yolk sac tumor, macrocystic pattern skos:exactMatch NCIT:C39924 Testicular Yolk Sac Tumor, Macrocystic Pattern semapv:UnspecifiedMatching MONDO:0004106 testicular yolk sac tumor, macrocystic pattern skos:exactMatch UMLS:C1515307 semapv:UnspecifiedMatching MONDO:0004107 splenic manifestation of leukemia skos:exactMatch DOID:710 splenic manifestation of leukemia semapv:UnspecifiedMatching MONDO:0004107 splenic manifestation of leukemia skos:exactMatch NCIT:C7296 Splenic Manifestation of Leukemia semapv:UnspecifiedMatching MONDO:0004107 splenic manifestation of leukemia skos:exactMatch UMLS:C1336065 semapv:UnspecifiedMatching MONDO:0004108 diaphragma sellae meningioma skos:exactMatch DOID:7103 diaphragma sellae meningioma semapv:UnspecifiedMatching MONDO:0004108 diaphragma sellae meningioma skos:exactMatch NCIT:C5283 Diaphragma Sellae Meningioma semapv:UnspecifiedMatching MONDO:0004108 diaphragma sellae meningioma skos:exactMatch UMLS:C1333283 semapv:UnspecifiedMatching MONDO:0004109 epiglottis neoplasm skos:exactMatch DOID:7105 epiglottis neoplasm semapv:UnspecifiedMatching MONDO:0004109 epiglottis neoplasm skos:exactMatch NCIT:C4933 Epiglottis Neoplasm semapv:UnspecifiedMatching MONDO:0004109 epiglottis neoplasm skos:exactMatch SCTID:126699008 semapv:UnspecifiedMatching MONDO:0004109 epiglottis neoplasm skos:exactMatch UMLS:C1290353 semapv:UnspecifiedMatching MONDO:0004110 refractory hairy cell leukemia skos:exactMatch DOID:711 refractory hairy cell leukemia semapv:UnspecifiedMatching MONDO:0004110 refractory hairy cell leukemia skos:exactMatch NCIT:C8030 Refractory Hairy Cell Leukemia semapv:UnspecifiedMatching MONDO:0004110 refractory hairy cell leukemia skos:exactMatch UMLS:C4551546 semapv:UnspecifiedMatching MONDO:0004111 refractory hematologic cancer skos:exactMatch DOID:712 refractory hematologic cancer semapv:UnspecifiedMatching MONDO:0004111 refractory hematologic cancer skos:exactMatch NCIT:C27357 Refractory Hematologic Malignancy semapv:UnspecifiedMatching MONDO:0004111 refractory hematologic cancer skos:exactMatch UMLS:C1335724 semapv:UnspecifiedMatching MONDO:0004112 radiation cystitis skos:exactMatch DOID:7127 radiation cystitis semapv:UnspecifiedMatching MONDO:0004112 radiation cystitis skos:exactMatch ICD10CM:N30.4 Irradiation cystitis semapv:UnspecifiedMatching MONDO:0004112 radiation cystitis skos:exactMatch NCIT:C123174 Radiation Cystitis semapv:UnspecifiedMatching MONDO:0004112 radiation cystitis skos:exactMatch SCTID:11251000 semapv:UnspecifiedMatching MONDO:0004112 radiation cystitis skos:exactMatch UMLS:C0156270 semapv:UnspecifiedMatching MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:exactMatch DOID:7132 urinary bladder small cell neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:exactMatch NCIT:C9461 Bladder Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:exactMatch Orphanet:284400 Small cell carcinoma of the bladder semapv:UnspecifiedMatching MONDO:0004116 esophageal small cell neuroendocrine carcinoma skos:exactMatch DOID:7134 esophagus small cell carcinoma semapv:UnspecifiedMatching MONDO:0004116 esophageal small cell neuroendocrine carcinoma skos:exactMatch NCIT:C6762 Esophageal Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0004116 esophageal small cell neuroendocrine carcinoma skos:exactMatch UMLS:C1112474 semapv:UnspecifiedMatching MONDO:0004117 ampulla of vater small cell neuroendocrine carcinoma skos:exactMatch DOID:7136 ampulla of Vater small cell carcinoma semapv:UnspecifiedMatching MONDO:0004117 ampulla of vater small cell neuroendocrine carcinoma skos:exactMatch NCIT:C6655 Ampulla of Vater Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0004117 ampulla of vater small cell neuroendocrine carcinoma skos:exactMatch UMLS:C1332250 semapv:UnspecifiedMatching MONDO:0004118 cystitis cystica skos:exactMatch DOID:7138 cystitis cystica semapv:UnspecifiedMatching MONDO:0004118 cystitis cystica skos:exactMatch NCIT:C96230 Cystitis Cystica semapv:UnspecifiedMatching MONDO:0004118 cystitis cystica skos:exactMatch SCTID:13285005 semapv:UnspecifiedMatching MONDO:0004118 cystitis cystica skos:exactMatch UMLS:C0152262 semapv:UnspecifiedMatching MONDO:0004120 Bartholin gland small cell carcinoma skos:exactMatch DOID:7140 Bartholin's gland small cell carcinoma semapv:UnspecifiedMatching MONDO:0004120 Bartholin gland small cell carcinoma skos:exactMatch NCIT:C40298 Bartholin Gland Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0004120 Bartholin gland small cell carcinoma skos:exactMatch UMLS:C1511051 semapv:UnspecifiedMatching MONDO:0004122 thymus small cell carcinoma skos:exactMatch DOID:7142 thymus small cell carcinoma semapv:UnspecifiedMatching MONDO:0004122 thymus small cell carcinoma skos:exactMatch NCIT:C6460 Thymic Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0004122 thymus small cell carcinoma skos:exactMatch UMLS:C1335980 semapv:UnspecifiedMatching MONDO:0004124 prostate stromal sarcoma skos:exactMatch DOID:7152 prostate stromal sarcoma semapv:UnspecifiedMatching MONDO:0004124 prostate stromal sarcoma skos:exactMatch NCIT:C5524 Prostate Stromal Sarcoma semapv:UnspecifiedMatching MONDO:0004124 prostate stromal sarcoma skos:exactMatch UMLS:C1335521 semapv:UnspecifiedMatching MONDO:0004125 rectum leiomyoma skos:exactMatch DOID:7160 rectal leiomyoma semapv:UnspecifiedMatching MONDO:0004125 rectum leiomyoma skos:exactMatch NCIT:C5552 Rectal Leiomyoma semapv:UnspecifiedMatching MONDO:0004125 rectum leiomyoma skos:exactMatch UMLS:C1335682 semapv:UnspecifiedMatching MONDO:0004126 thyroiditis skos:exactMatch DOID:7166 thyroiditis semapv:UnspecifiedMatching MONDO:0004126 thyroiditis skos:exactMatch NCIT:C26894 Thyroiditis semapv:UnspecifiedMatching MONDO:0004126 thyroiditis skos:exactMatch SCTID:82119001 semapv:UnspecifiedMatching MONDO:0004126 thyroiditis skos:exactMatch UMLS:C0040147 semapv:UnspecifiedMatching MONDO:0004126 thyroiditis skos:exactMatch mesh:D013966 semapv:UnspecifiedMatching MONDO:0004127 lung occult adenocarcinoma skos:exactMatch DOID:7168 lung occult adenocarcinoma semapv:UnspecifiedMatching MONDO:0004127 lung occult adenocarcinoma skos:exactMatch NCIT:C6699 Occult Lung Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004127 lung occult adenocarcinoma skos:exactMatch UMLS:C1335096 semapv:UnspecifiedMatching MONDO:0004128 lung occult large cell carcinoma skos:exactMatch DOID:7169 lung occult large cell carcinoma semapv:UnspecifiedMatching MONDO:0004128 lung occult large cell carcinoma skos:exactMatch NCIT:C6685 Occult Lung Large Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004128 lung occult large cell carcinoma skos:exactMatch UMLS:C1335095 semapv:UnspecifiedMatching MONDO:0004129 cloacogenic carcinoma skos:exactMatch DOID:7173 cloacogenic carcinoma semapv:UnspecifiedMatching MONDO:0004129 cloacogenic carcinoma skos:exactMatch NCIT:C8255 Anal Canal Cloacogenic Carcinoma semapv:UnspecifiedMatching MONDO:0004129 cloacogenic carcinoma skos:exactMatch mesh:C563020 semapv:UnspecifiedMatching MONDO:0004130 anus basaloid carcinoma skos:exactMatch DOID:7174 anus basaloid carcinoma semapv:UnspecifiedMatching MONDO:0004130 anus basaloid carcinoma skos:exactMatch NCIT:C8256 Anal Basaloid Carcinoma semapv:UnspecifiedMatching MONDO:0004130 anus basaloid carcinoma skos:exactMatch UMLS:C0280470 semapv:UnspecifiedMatching MONDO:0004131 anal verrucous carcinoma skos:exactMatch DOID:7175 anal Buschke-Lowenstein tumor semapv:UnspecifiedMatching MONDO:0004131 anal verrucous carcinoma skos:exactMatch NCIT:C7470 Anal Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0004131 anal verrucous carcinoma skos:exactMatch UMLS:C1332278 semapv:UnspecifiedMatching MONDO:0004132 anal canal squamous cell carcinoma skos:exactMatch DOID:7177 anal canal squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004132 anal canal squamous cell carcinoma skos:exactMatch NCIT:C7469 Anal Canal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004132 anal canal squamous cell carcinoma skos:exactMatch Orphanet:424019 Squamous cell carcinoma of the anal canal semapv:UnspecifiedMatching MONDO:0004132 anal canal squamous cell carcinoma skos:exactMatch UMLS:C1332262 semapv:UnspecifiedMatching MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma skos:exactMatch DOID:7179 mixed eosinophil-basophil adenoma semapv:UnspecifiedMatching MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma skos:exactMatch NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma semapv:UnspecifiedMatching MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma skos:exactMatch UMLS:C0334312 semapv:UnspecifiedMatching MONDO:0004134 benign dermal neurilemmoma skos:exactMatch DOID:7181 benign dermal neurilemmoma semapv:UnspecifiedMatching MONDO:0004134 benign dermal neurilemmoma skos:exactMatch NCIT:C5569 Cutaneous Schwannoma semapv:UnspecifiedMatching MONDO:0004134 benign dermal neurilemmoma skos:exactMatch UMLS:C1332490 semapv:UnspecifiedMatching MONDO:0004135 subacute lymphocytic thyroiditis skos:exactMatch DOID:7187 subacute lymphocytic thyroiditis semapv:UnspecifiedMatching MONDO:0004135 subacute lymphocytic thyroiditis skos:exactMatch NCIT:C35829 Subacute Lymphocytic Thyroiditis semapv:UnspecifiedMatching MONDO:0004135 subacute lymphocytic thyroiditis skos:exactMatch SCTID:361126006 semapv:UnspecifiedMatching MONDO:0004135 subacute lymphocytic thyroiditis skos:exactMatch UMLS:C1306804 semapv:UnspecifiedMatching MONDO:0004136 ovarian endometrioid cystadenoma skos:exactMatch DOID:7191 ovarian endometrioid cystadenoma semapv:UnspecifiedMatching MONDO:0004136 ovarian endometrioid cystadenoma skos:exactMatch NCIT:C40075 Ovarian Endometrioid Cystadenoma semapv:UnspecifiedMatching MONDO:0004136 ovarian endometrioid cystadenoma skos:exactMatch UMLS:C1518713 semapv:UnspecifiedMatching MONDO:0004139 normocytic anemia skos:exactMatch DOID:720 normocytic anemia semapv:UnspecifiedMatching MONDO:0004139 normocytic anemia skos:exactMatch NCIT:C35142 Normocytic Anemia semapv:UnspecifiedMatching MONDO:0004139 normocytic anemia skos:exactMatch SCTID:300980002 semapv:UnspecifiedMatching MONDO:0004139 normocytic anemia skos:exactMatch UMLS:C0085577 semapv:UnspecifiedMatching MONDO:0004140 intermediate malignant teratoma skos:exactMatch DOID:7202 intermediate malignant teratoma semapv:UnspecifiedMatching MONDO:0004140 intermediate malignant teratoma skos:exactMatch NCIT:C4288 Intermediate Immature Teratoma semapv:UnspecifiedMatching MONDO:0004140 intermediate malignant teratoma skos:exactMatch UMLS:C0334522 semapv:UnspecifiedMatching MONDO:0004141 melanomatosis skos:exactMatch DOID:7206 melanomatosis semapv:UnspecifiedMatching MONDO:0004141 melanomatosis skos:exactMatch NCIT:C9499 Melanomatosis semapv:UnspecifiedMatching MONDO:0004141 melanomatosis skos:exactMatch UMLS:C1334691 semapv:UnspecifiedMatching MONDO:0004142 lung combined large cell neuroendocrine carcinoma skos:exactMatch DOID:7207 lung combined large cell neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0004142 lung combined large cell neuroendocrine carcinoma skos:exactMatch NCIT:C7267 Combined Lung Large Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0004142 lung combined large cell neuroendocrine carcinoma skos:exactMatch UMLS:C1333122 semapv:UnspecifiedMatching MONDO:0004143 psammomatous meningioma skos:exactMatch DOID:7210 psammomatous meningioma semapv:UnspecifiedMatching MONDO:0004143 psammomatous meningioma skos:exactMatch NCIT:C4331 Psammomatous Meningioma semapv:UnspecifiedMatching MONDO:0004143 psammomatous meningioma skos:exactMatch UMLS:C0334607 semapv:UnspecifiedMatching MONDO:0004144 fibrous meningioma skos:exactMatch DOID:7211 fibrous meningioma semapv:UnspecifiedMatching MONDO:0004144 fibrous meningioma skos:exactMatch NCIT:C4330 Fibrous Meningioma semapv:UnspecifiedMatching MONDO:0004144 fibrous meningioma skos:exactMatch UMLS:C0334606 semapv:UnspecifiedMatching MONDO:0004145 meningothelial meningioma skos:exactMatch DOID:7212 meningothelial meningioma semapv:UnspecifiedMatching MONDO:0004145 meningothelial meningioma skos:exactMatch NCIT:C4329 Meningothelial Meningioma semapv:UnspecifiedMatching MONDO:0004145 meningothelial meningioma skos:exactMatch UMLS:C0334605 semapv:UnspecifiedMatching MONDO:0004146 transitional meningioma skos:exactMatch DOID:7213 transitional meningioma semapv:UnspecifiedMatching MONDO:0004146 transitional meningioma skos:exactMatch NCIT:C4333 Transitional Meningioma semapv:UnspecifiedMatching MONDO:0004146 transitional meningioma skos:exactMatch UMLS:C0334611 semapv:UnspecifiedMatching MONDO:0004147 noninvasive malignant thymoma skos:exactMatch DOID:7214 noninvasive malignant thymoma semapv:UnspecifiedMatching MONDO:0004147 noninvasive malignant thymoma skos:exactMatch NCIT:C9080 Noninvasive Malignant Thymoma semapv:UnspecifiedMatching MONDO:0004147 noninvasive malignant thymoma skos:exactMatch UMLS:C0278847 semapv:UnspecifiedMatching MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcinoma skos:exactMatch DOID:7221 gallbladder papillary carcinoma semapv:UnspecifiedMatching MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcinoma skos:exactMatch NCIT:C5743 Gallbladder Intracholecystic Papillary Neoplasm with an Associated Invasive Carcinoma semapv:UnspecifiedMatching MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcinoma skos:exactMatch UMLS:C1333753 semapv:UnspecifiedMatching MONDO:0004149 gallbladder pleomorphic giant cell adenocarcinoma skos:exactMatch DOID:7222 gallbladder pleomorphic giant cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0004150 breast giant fibroadenoma skos:exactMatch DOID:7223 breast giant fibroadenoma semapv:UnspecifiedMatching MONDO:0004150 breast giant fibroadenoma skos:exactMatch NCIT:C4273 Breast Giant Fibroadenoma semapv:UnspecifiedMatching MONDO:0004150 breast giant fibroadenoma skos:exactMatch SCTID:254846003 semapv:UnspecifiedMatching MONDO:0004150 breast giant fibroadenoma skos:exactMatch UMLS:C0346157 semapv:UnspecifiedMatching MONDO:0004151 spinal meninges cancer skos:exactMatch DOID:7224 spinal meninges cancer semapv:UnspecifiedMatching MONDO:0004151 spinal meninges cancer skos:exactMatch SCTID:363476006 semapv:UnspecifiedMatching MONDO:0004151 spinal meninges cancer skos:exactMatch UMLS:C0153647 semapv:UnspecifiedMatching MONDO:0004152 chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation skos:exactMatch DOID:7230 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma semapv:UnspecifiedMatching MONDO:0004152 chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation skos:exactMatch NCIT:C37201 Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma with Immunoglobulin Heavy Chain Variable-Region Gene Somatic Hypermutation semapv:UnspecifiedMatching MONDO:0004152 chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation skos:exactMatch UMLS:C1333037 semapv:UnspecifiedMatching MONDO:0004153 childhood central nervous system embryonal carcinoma skos:exactMatch DOID:7231 childhood CNS embryonal cell carcinoma semapv:UnspecifiedMatching MONDO:0004153 childhood central nervous system embryonal carcinoma skos:exactMatch NCIT:C6208 Childhood Central Nervous System Embryonal Carcinoma semapv:UnspecifiedMatching MONDO:0004153 childhood central nervous system embryonal carcinoma skos:exactMatch UMLS:C1377605 semapv:UnspecifiedMatching MONDO:0004155 adult central nervous system embryonal carcinoma skos:exactMatch DOID:7233 adult central nervous system embryonal carcinoma semapv:UnspecifiedMatching MONDO:0004155 adult central nervous system embryonal carcinoma skos:exactMatch NCIT:C5790 Adult Central Nervous System Embryonal Carcinoma semapv:UnspecifiedMatching MONDO:0004155 adult central nervous system embryonal carcinoma skos:exactMatch UMLS:C1370503 semapv:UnspecifiedMatching MONDO:0004156 pancreatic mucinous cystadenocarcinoma skos:exactMatch DOID:7234 mucinous cystadenocarcinoma of pancreas semapv:UnspecifiedMatching MONDO:0004156 pancreatic mucinous cystadenocarcinoma skos:exactMatch NCIT:C5713 Pancreatic Mucinous Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0004158 pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma skos:exactMatch DOID:7236 pancreatic invasive mucinous cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0004158 pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma skos:exactMatch NCIT:C41246 Pancreatic Mucinous-Cystic Neoplasm with an Associated Invasive Carcinoma semapv:UnspecifiedMatching MONDO:0004158 pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma skos:exactMatch UMLS:C1518870 semapv:UnspecifiedMatching MONDO:0004159 pancreatic non-invasive mucinous cystadenocarcinoma skos:exactMatch DOID:7237 pancreatic non-invasive mucinous cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0004159 pancreatic non-invasive mucinous cystadenocarcinoma skos:exactMatch NCIT:C41245 Pancreatic Non-Invasive Mucinous Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0004159 pancreatic non-invasive mucinous cystadenocarcinoma skos:exactMatch UMLS:C1266078 semapv:UnspecifiedMatching MONDO:0004160 female stress incontinence skos:exactMatch DOID:724 female stress incontinence semapv:UnspecifiedMatching MONDO:0004160 female stress incontinence skos:exactMatch NCIT:C35042 Female Stress Incontinence semapv:UnspecifiedMatching MONDO:0004160 female stress incontinence skos:exactMatch UMLS:C0038437 semapv:UnspecifiedMatching MONDO:0004161 uterine corpus apoplectic leiomyoma skos:exactMatch DOID:7241 uterine corpus apoplectic leiomyoma semapv:UnspecifiedMatching MONDO:0004161 uterine corpus apoplectic leiomyoma skos:exactMatch NCIT:C40165 Uterine Corpus Apoplectic Leiomyoma semapv:UnspecifiedMatching MONDO:0004161 uterine corpus apoplectic leiomyoma skos:exactMatch UMLS:C1519852 semapv:UnspecifiedMatching MONDO:0004162 uterine corpus cellular leiomyoma skos:exactMatch DOID:7242 uterine corpus cellular leiomyoma semapv:UnspecifiedMatching MONDO:0004162 uterine corpus cellular leiomyoma skos:exactMatch NCIT:C40163 Uterine Corpus Cellular Leiomyoma semapv:UnspecifiedMatching MONDO:0004162 uterine corpus cellular leiomyoma skos:exactMatch UMLS:C1519845 semapv:UnspecifiedMatching MONDO:0004163 bladder urachal urothelial carcinoma skos:exactMatch DOID:7244 bladder urachal urothelial carcinoma semapv:UnspecifiedMatching MONDO:0004163 bladder urachal urothelial carcinoma skos:exactMatch NCIT:C39844 Urachal Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004163 bladder urachal urothelial carcinoma skos:exactMatch UMLS:C1511207 semapv:UnspecifiedMatching MONDO:0004164 lymphoepithelioma-like acinar prostate adenocarcinoma skos:exactMatch DOID:7246 lymphoepithelioma-like acinar prostate adenocarcinoma semapv:UnspecifiedMatching MONDO:0004164 lymphoepithelioma-like acinar prostate adenocarcinoma skos:exactMatch NCIT:C39885 Prostate Acinar Lymphoepithelioma-Like Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004164 lymphoepithelioma-like acinar prostate adenocarcinoma skos:exactMatch UMLS:C1515864 semapv:UnspecifiedMatching MONDO:0004165 selective IgD deficiency disease skos:exactMatch DOID:7263 selective IgD deficiency disease semapv:UnspecifiedMatching MONDO:0004165 selective IgD deficiency disease skos:exactMatch NCIT:C27144 Selective IgD Immunodeficiency semapv:UnspecifiedMatching MONDO:0004165 selective IgD deficiency disease skos:exactMatch SCTID:234541006 semapv:UnspecifiedMatching MONDO:0004165 selective IgD deficiency disease skos:exactMatch UMLS:C0398695 semapv:UnspecifiedMatching MONDO:0004166 hereditary fallopian tube carcinoma skos:exactMatch DOID:7266 familiar fallopian tube carcinoma semapv:UnspecifiedMatching MONDO:0004166 hereditary fallopian tube carcinoma skos:exactMatch NCIT:C40455 Hereditary Fallopian Tube Carcinoma semapv:UnspecifiedMatching MONDO:0004166 hereditary fallopian tube carcinoma skos:exactMatch UMLS:C1512418 semapv:UnspecifiedMatching MONDO:0004167 obsolete lung clear cell carcinoma skos:exactMatch DOID:7267 lung clear cell carcinoma semapv:UnspecifiedMatching MONDO:0004167 obsolete lung clear cell carcinoma skos:exactMatch SCTID:254630009 semapv:UnspecifiedMatching MONDO:0004167 obsolete lung clear cell carcinoma skos:exactMatch UMLS:C0345959 semapv:UnspecifiedMatching MONDO:0004168 cribriform variant testicular seminoma skos:exactMatch DOID:7269 cribriform variant testicular seminoma semapv:UnspecifiedMatching MONDO:0004168 cribriform variant testicular seminoma skos:exactMatch NCIT:C40957 Testicular Seminoma, Cribriform Variant semapv:UnspecifiedMatching MONDO:0004168 cribriform variant testicular seminoma skos:exactMatch UMLS:C1515292 semapv:UnspecifiedMatching MONDO:0004169 premenstrual tension skos:exactMatch DOID:727 premenstrual tension semapv:UnspecifiedMatching MONDO:0004169 premenstrual tension skos:exactMatch UMLS:C0376356 semapv:UnspecifiedMatching MONDO:0004169 premenstrual tension skos:exactMatch mesh:D011293 semapv:UnspecifiedMatching MONDO:0004170 nodular episcleritis skos:exactMatch DOID:728 nodular episcleritis semapv:UnspecifiedMatching MONDO:0004170 nodular episcleritis skos:exactMatch SCTID:70558001 semapv:UnspecifiedMatching MONDO:0004170 nodular episcleritis skos:exactMatch UMLS:C0155352 semapv:UnspecifiedMatching MONDO:0004172 uterine corpus adenocarcinofibroma skos:exactMatch DOID:7281 uterine corpus adenocarcinofibroma semapv:UnspecifiedMatching MONDO:0004173 adenocarcinoma of skene gland origin skos:exactMatch DOID:7284 Skene gland carcinoma semapv:UnspecifiedMatching MONDO:0004173 adenocarcinoma of skene gland origin skos:exactMatch NCIT:C39863 Adenocarcinoma of Skene Gland Origin semapv:UnspecifiedMatching MONDO:0004173 adenocarcinoma of skene gland origin skos:exactMatch UMLS:C1527427 semapv:UnspecifiedMatching MONDO:0004174 secretory uterine corpus endometrioid adenocarcinoma skos:exactMatch DOID:7289 endometrial endometrioid adenocarcinoma, secretory variant semapv:UnspecifiedMatching MONDO:0004174 secretory uterine corpus endometrioid adenocarcinoma skos:exactMatch NCIT:C27839 Endometrial Endometrioid Adenocarcinoma, Secretory Variant semapv:UnspecifiedMatching MONDO:0004175 mucin-rich endometrial endometrioid adenocarcinoma skos:exactMatch DOID:7293 mucin-rich endometrial endometrioid adenocarcinoma semapv:UnspecifiedMatching MONDO:0004175 mucin-rich endometrial endometrioid adenocarcinoma skos:exactMatch NCIT:C8717 Mucin-Rich Endometrial Endometrioid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004175 mucin-rich endometrial endometrioid adenocarcinoma skos:exactMatch UMLS:C1513711 semapv:UnspecifiedMatching MONDO:0004176 childhood extraosseous osteosarcoma skos:exactMatch DOID:7297 childhood extraosseous osteosarcoma semapv:UnspecifiedMatching MONDO:0004176 childhood extraosseous osteosarcoma skos:exactMatch NCIT:C27376 Childhood Extraskeletal Osteosarcoma semapv:UnspecifiedMatching MONDO:0004176 childhood extraosseous osteosarcoma skos:exactMatch UMLS:C1332968 semapv:UnspecifiedMatching MONDO:0004177 benign urethral neoplasm skos:exactMatch DOID:730 urethral benign neoplasm semapv:UnspecifiedMatching MONDO:0004177 benign urethral neoplasm skos:exactMatch NCIT:C3619 Benign Urethral Neoplasm semapv:UnspecifiedMatching MONDO:0004177 benign urethral neoplasm skos:exactMatch SCTID:92466006 semapv:UnspecifiedMatching MONDO:0004178 testicular yolk sac tumor, endodermal sinus pattern skos:exactMatch DOID:7302 endodermal sinus pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004178 testicular yolk sac tumor, endodermal sinus pattern skos:exactMatch NCIT:C39927 Testicular Yolk Sac Tumor, Endodermal Sinus/Perivascular Pattern semapv:UnspecifiedMatching MONDO:0004178 testicular yolk sac tumor, endodermal sinus pattern skos:exactMatch UMLS:C1515303 semapv:UnspecifiedMatching MONDO:0004180 benign urinary system neoplasm skos:exactMatch DOID:731 urinary system benign neoplasm semapv:UnspecifiedMatching MONDO:0004180 benign urinary system neoplasm skos:exactMatch NCIT:C4893 Benign Urinary System Neoplasm semapv:UnspecifiedMatching MONDO:0004180 benign urinary system neoplasm skos:exactMatch SCTID:92468007 semapv:UnspecifiedMatching MONDO:0004180 benign urinary system neoplasm skos:exactMatch mesh:D014571 semapv:UnspecifiedMatching MONDO:0004181 breast adenomyoepithelial adenosis skos:exactMatch DOID:7312 breast adenomyoepithelial adenosis semapv:UnspecifiedMatching MONDO:0004181 breast adenomyoepithelial adenosis skos:exactMatch NCIT:C40391 Breast Adenomyoepithelial Adenosis semapv:UnspecifiedMatching MONDO:0004181 breast adenomyoepithelial adenosis skos:exactMatch UMLS:C1511283 semapv:UnspecifiedMatching MONDO:0004182 stage IVb bladder cancer skos:exactMatch DOID:7315 Jewett-Marshall bladder cancer semapv:UnspecifiedMatching MONDO:0004182 stage IVb bladder cancer skos:exactMatch NCIT:C9368 Stage IVB Bladder Cancer semapv:UnspecifiedMatching MONDO:0004182 stage IVb bladder cancer skos:exactMatch UMLS:C1336362 semapv:UnspecifiedMatching MONDO:0004183 axonal neuropathy skos:exactMatch DOID:7319 axonal neuropathy semapv:UnspecifiedMatching MONDO:0004183 axonal neuropathy skos:exactMatch NCIT:C27301 Axonal Neuropathy semapv:UnspecifiedMatching MONDO:0004183 axonal neuropathy skos:exactMatch SCTID:60703000 semapv:UnspecifiedMatching MONDO:0004183 axonal neuropathy skos:exactMatch UMLS:C1263857 semapv:UnspecifiedMatching MONDO:0004184 urethral disorder skos:exactMatch DOID:732 urethral disease semapv:UnspecifiedMatching MONDO:0004184 urethral disorder skos:exactMatch NCIT:C26903 Urethra Disorder semapv:UnspecifiedMatching MONDO:0004184 urethral disorder skos:exactMatch SCTID:4985009 semapv:UnspecifiedMatching MONDO:0004184 urethral disorder skos:exactMatch UMLS:C0041969 semapv:UnspecifiedMatching MONDO:0004184 urethral disorder skos:exactMatch mesh:D014522 semapv:UnspecifiedMatching MONDO:0004185 ovarian serous cystadenofibroma skos:exactMatch DOID:7320 ovarian serous cystadenofibroma semapv:UnspecifiedMatching MONDO:0004185 ovarian serous cystadenofibroma skos:exactMatch NCIT:C40032 Ovarian Serous Cystadenofibroma semapv:UnspecifiedMatching MONDO:0004185 ovarian serous cystadenofibroma skos:exactMatch UMLS:C0877572 semapv:UnspecifiedMatching MONDO:0004186 cranial nodular fasciitis skos:exactMatch DOID:7326 cranial pseudosarcomatous fasciitis semapv:UnspecifiedMatching MONDO:0004186 cranial nodular fasciitis skos:exactMatch NCIT:C27248 Cranial Nodular Fasciitis semapv:UnspecifiedMatching MONDO:0004186 cranial nodular fasciitis skos:exactMatch UMLS:C1333162 semapv:UnspecifiedMatching MONDO:0004187 nodular fasciitis skos:exactMatch DOID:7327 pseudosarcomatous fibromatosis semapv:UnspecifiedMatching MONDO:0004187 nodular fasciitis skos:exactMatch ICD10CM:M72.4 Pseudosarcomatous fibromatosis semapv:UnspecifiedMatching MONDO:0004187 nodular fasciitis skos:exactMatch NCIT:C3827 Nodular Fasciitis semapv:UnspecifiedMatching MONDO:0004187 nodular fasciitis skos:exactMatch Orphanet:477742 Nodular fasciitis semapv:UnspecifiedMatching MONDO:0004187 nodular fasciitis skos:exactMatch SCTID:400138001 semapv:UnspecifiedMatching MONDO:0004187 nodular fasciitis skos:exactMatch UMLS:C0410005 semapv:UnspecifiedMatching MONDO:0004188 iris spindle cell melanoma skos:exactMatch DOID:7328 iris spindle cell melanoma semapv:UnspecifiedMatching MONDO:0004188 iris spindle cell melanoma skos:exactMatch NCIT:C6098 Iris Spindle Cell Melanoma semapv:UnspecifiedMatching MONDO:0004188 iris spindle cell melanoma skos:exactMatch UMLS:C1334287 semapv:UnspecifiedMatching MONDO:0004189 esophageal tuberculosis skos:exactMatch DOID:7332 esophageal tuberculosis semapv:UnspecifiedMatching MONDO:0004189 esophageal tuberculosis skos:exactMatch SCTID:15284007 semapv:UnspecifiedMatching MONDO:0004189 esophageal tuberculosis skos:exactMatch UMLS:C0152902 semapv:UnspecifiedMatching MONDO:0004190 nephrogenic adenoma of urinary bladder skos:exactMatch DOID:7333 nephrogenic adenoma of urinary bladder semapv:UnspecifiedMatching MONDO:0004190 nephrogenic adenoma of urinary bladder skos:exactMatch NCIT:C7415 Bladder Nephrogenic Adenoma semapv:UnspecifiedMatching MONDO:0004190 nephrogenic adenoma of urinary bladder skos:exactMatch UMLS:C1336892 semapv:UnspecifiedMatching MONDO:0004191 nephrogenic adenoma skos:exactMatch DOID:7334 nephrogenic adenoma semapv:UnspecifiedMatching MONDO:0004191 nephrogenic adenoma skos:exactMatch NCIT:C7413 Nephrogenic Adenoma semapv:UnspecifiedMatching MONDO:0004191 nephrogenic adenoma skos:exactMatch UMLS:C0334039 semapv:UnspecifiedMatching MONDO:0004192 urethra cancer skos:exactMatch DOID:734 urethra cancer semapv:UnspecifiedMatching MONDO:0004192 urethra cancer skos:exactMatch ICD10CM:C68.0 Malignant neoplasm of urethra semapv:UnspecifiedMatching MONDO:0004192 urethra cancer skos:exactMatch NCIT:C7507 Malignant Urethral Neoplasm semapv:UnspecifiedMatching MONDO:0004192 urethra cancer skos:exactMatch SCTID:363459007 semapv:UnspecifiedMatching MONDO:0004193 pediatric ovarian dysgerminoma skos:exactMatch DOID:7340 childhood ovarian dysgerminoma semapv:UnspecifiedMatching MONDO:0004193 pediatric ovarian dysgerminoma skos:exactMatch NCIT:C6550 Childhood Ovarian Dysgerminoma semapv:UnspecifiedMatching MONDO:0004193 pediatric ovarian dysgerminoma skos:exactMatch UMLS:C1332988 semapv:UnspecifiedMatching MONDO:0004194 ovarian stromal hyperthecosis skos:exactMatch DOID:7347 ovarian stromal hyperthecosis semapv:UnspecifiedMatching MONDO:0004194 ovarian stromal hyperthecosis skos:exactMatch NCIT:C40446 Ovarian Stromal Hyperthecosis semapv:UnspecifiedMatching MONDO:0004194 ovarian stromal hyperthecosis skos:exactMatch UMLS:C1518743 semapv:UnspecifiedMatching MONDO:0004195 thymic dysplasia skos:exactMatch DOID:7350 thymic dysplasia semapv:UnspecifiedMatching MONDO:0004195 thymic dysplasia skos:exactMatch NCIT:C27802 Thymic Dysplasia semapv:UnspecifiedMatching MONDO:0004195 thymic dysplasia skos:exactMatch UMLS:C1331541 semapv:UnspecifiedMatching MONDO:0004196 rectal sarcomatoid carcinoma skos:exactMatch DOID:7356 rectum sarcomatoid carcinoma semapv:UnspecifiedMatching MONDO:0004196 rectal sarcomatoid carcinoma skos:exactMatch NCIT:C5556 Rectal Sarcomatoid Carcinoma semapv:UnspecifiedMatching MONDO:0004196 rectal sarcomatoid carcinoma skos:exactMatch UMLS:C1335689 semapv:UnspecifiedMatching MONDO:0004197 male urethral cancer skos:exactMatch DOID:736 male urethral cancer semapv:UnspecifiedMatching MONDO:0004197 male urethral cancer skos:exactMatch NCIT:C39867 Male Urethral Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0004197 male urethral cancer skos:exactMatch UMLS:C1518164 semapv:UnspecifiedMatching MONDO:0004198 testicular yolk sac tumor, solid pattern skos:exactMatch DOID:7360 solid pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004198 testicular yolk sac tumor, solid pattern skos:exactMatch NCIT:C39925 Testicular Yolk Sac Tumor, Solid Pattern semapv:UnspecifiedMatching MONDO:0004198 testicular yolk sac tumor, solid pattern skos:exactMatch UMLS:C1515312 semapv:UnspecifiedMatching MONDO:0004199 vulvar keratinizing squamous cell carcinoma skos:exactMatch DOID:7363 vulvar keratinizing squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004199 vulvar keratinizing squamous cell carcinoma skos:exactMatch NCIT:C40284 Vulvar Keratinizing Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004199 vulvar keratinizing squamous cell carcinoma skos:exactMatch UMLS:C2109334 semapv:UnspecifiedMatching MONDO:0004200 superficial urinary bladder carcinoma skos:exactMatch DOID:7371 superficial urinary bladder cancer semapv:UnspecifiedMatching MONDO:0004200 superficial urinary bladder carcinoma skos:exactMatch NCIT:C27474 Non-Muscle Invasive Bladder Carcinoma semapv:UnspecifiedMatching MONDO:0004200 superficial urinary bladder carcinoma skos:exactMatch SCTID:425231005 semapv:UnspecifiedMatching MONDO:0004200 superficial urinary bladder carcinoma skos:exactMatch UMLS:C1336527 semapv:UnspecifiedMatching MONDO:0004201 pituitary hypoplasia skos:exactMatch DOID:7378 pituitary hypoplasia semapv:UnspecifiedMatching MONDO:0004201 pituitary hypoplasia skos:exactMatch NCIT:C27343 Pituitary Gland Hypoplasia semapv:UnspecifiedMatching MONDO:0004201 pituitary hypoplasia skos:exactMatch UMLS:C0948740 semapv:UnspecifiedMatching MONDO:0004202 adrenal medulla carcinoma skos:exactMatch DOID:7379 adrenal medulla carcinoma semapv:UnspecifiedMatching MONDO:0004203 female urethral cancer skos:exactMatch DOID:738 female urethral cancer semapv:UnspecifiedMatching MONDO:0004203 female urethral cancer skos:exactMatch NCIT:C39866 Female Urethral Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0004203 female urethral cancer skos:exactMatch UMLS:C1517154 semapv:UnspecifiedMatching MONDO:0004204 squamous cell skin papilloma skos:exactMatch DOID:7380 squamous cell papilloma of skin semapv:UnspecifiedMatching MONDO:0004204 squamous cell skin papilloma skos:exactMatch NCIT:C4462 Skin Squamous Papilloma semapv:UnspecifiedMatching MONDO:0004204 squamous cell skin papilloma skos:exactMatch SCTID:254661000 semapv:UnspecifiedMatching MONDO:0004204 squamous cell skin papilloma skos:exactMatch UMLS:C0345983 semapv:UnspecifiedMatching MONDO:0004205 lymphohistiocytoid mesothelioma skos:exactMatch DOID:7381 lymphohistiocytoid mesothelioma semapv:UnspecifiedMatching MONDO:0004205 lymphohistiocytoid mesothelioma skos:exactMatch NCIT:C27779 Lymphohistiocytoid Mesothelioma semapv:UnspecifiedMatching MONDO:0004205 lymphohistiocytoid mesothelioma skos:exactMatch UMLS:C1334464 semapv:UnspecifiedMatching MONDO:0004206 pulmonary vein leiomyosarcoma skos:exactMatch DOID:7388 pulmonary vein leiomyosarcoma semapv:UnspecifiedMatching MONDO:0004206 pulmonary vein leiomyosarcoma skos:exactMatch NCIT:C5374 Pulmonary Vein Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0004206 pulmonary vein leiomyosarcoma skos:exactMatch UMLS:C1335575 semapv:UnspecifiedMatching MONDO:0004207 pulmonary artery leiomyosarcoma skos:exactMatch DOID:7389 pulmonary artery leiomyosarcoma semapv:UnspecifiedMatching MONDO:0004207 pulmonary artery leiomyosarcoma skos:exactMatch NCIT:C5373 Pulmonary Artery Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0004207 pulmonary artery leiomyosarcoma skos:exactMatch UMLS:C1335572 semapv:UnspecifiedMatching MONDO:0004208 superior vena cava leiomyosarcoma skos:exactMatch DOID:7390 superior vena cava leiomyosarcoma semapv:UnspecifiedMatching MONDO:0004208 superior vena cava leiomyosarcoma skos:exactMatch NCIT:C6745 Superior Vena Cava Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0004208 superior vena cava leiomyosarcoma skos:exactMatch UMLS:C1336531 semapv:UnspecifiedMatching MONDO:0004209 cerebral primitive neuroectodermal tumor skos:exactMatch DOID:7398 cerebral primitive neuroectodermal tumor semapv:UnspecifiedMatching MONDO:0004209 cerebral primitive neuroectodermal tumor skos:exactMatch NCIT:C4970 Cerebral Embryonal Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0004209 cerebral primitive neuroectodermal tumor skos:exactMatch UMLS:C0751675 semapv:UnspecifiedMatching MONDO:0004210 colonic L-cell glucagon-like peptide producing tumor skos:exactMatch DOID:7401 colonic L-cell glucagon-like peptide producing tumor semapv:UnspecifiedMatching MONDO:0004210 colonic L-cell glucagon-like peptide producing tumor skos:exactMatch NCIT:C27447 Colon L-Cell Glucagon-Like Peptide-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0004210 colonic L-cell glucagon-like peptide producing tumor skos:exactMatch UMLS:C3274139 semapv:UnspecifiedMatching MONDO:0004211 L-cell glucagon-like peptide-producing neuroendocrine tumor skos:exactMatch DOID:7402 L-cell glucagon-like peptide producing tumor semapv:UnspecifiedMatching MONDO:0004211 L-cell glucagon-like peptide-producing neuroendocrine tumor skos:exactMatch NCIT:C27448 L-Cell Glucagon-Like Peptide-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0004211 L-cell glucagon-like peptide-producing neuroendocrine tumor skos:exactMatch UMLS:C3274140 semapv:UnspecifiedMatching MONDO:0004212 vulvar keratoacanthoma-like carcinoma skos:exactMatch DOID:7408 vulvar keratoacanthoma semapv:UnspecifiedMatching MONDO:0004213 vulvar non-keratinizing squamous cell carcinoma skos:exactMatch DOID:7409 vulvar non-keratinizing squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004213 vulvar non-keratinizing squamous cell carcinoma skos:exactMatch NCIT:C40285 Vulvar Non-Keratinizing Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004213 vulvar non-keratinizing squamous cell carcinoma skos:exactMatch UMLS:C1520092 semapv:UnspecifiedMatching MONDO:0004214 ovarian endometrioid cystadenofibroma skos:exactMatch DOID:7411 ovarian endometrioid cystadenofibroma semapv:UnspecifiedMatching MONDO:0004214 ovarian endometrioid cystadenofibroma skos:exactMatch NCIT:C27288 Ovarian Endometrioid Cystadenofibroma semapv:UnspecifiedMatching MONDO:0004214 ovarian endometrioid cystadenofibroma skos:exactMatch UMLS:C1335158 semapv:UnspecifiedMatching MONDO:0004215 cutaneous anthrax skos:exactMatch DOID:7426 cutaneous anthrax semapv:UnspecifiedMatching MONDO:0004215 cutaneous anthrax skos:exactMatch ICD10CM:A22.0 Cutaneous anthrax semapv:UnspecifiedMatching MONDO:0004215 cutaneous anthrax skos:exactMatch SCTID:84980006 semapv:UnspecifiedMatching MONDO:0004215 cutaneous anthrax skos:exactMatch UMLS:C0003177 semapv:UnspecifiedMatching MONDO:0004215 cutaneous anthrax skos:exactMatch mesh:C531621 semapv:UnspecifiedMatching MONDO:0004216 pineal region germinoma skos:exactMatch DOID:7428 pineal region germinoma semapv:UnspecifiedMatching MONDO:0004216 pineal region germinoma skos:exactMatch NCIT:C8712 Pineal Region Germinoma semapv:UnspecifiedMatching MONDO:0004216 pineal region germinoma skos:exactMatch Orphanet:91352 Germinoma of the central nervous system semapv:UnspecifiedMatching MONDO:0004216 pineal region germinoma skos:exactMatch UMLS:C0854912 semapv:UnspecifiedMatching MONDO:0004217 childhood brain germinoma skos:exactMatch DOID:7429 childhood brain germinoma semapv:UnspecifiedMatching MONDO:0004217 childhood brain germinoma skos:exactMatch NCIT:C6207 Childhood Brain Germinoma semapv:UnspecifiedMatching MONDO:0004217 childhood brain germinoma skos:exactMatch UMLS:C1332948 semapv:UnspecifiedMatching MONDO:0004218 childhood germ cell brain tumor skos:exactMatch DOID:7430 childhood germ cell brain tumor semapv:UnspecifiedMatching MONDO:0004218 childhood germ cell brain tumor skos:exactMatch NCIT:C5795 Childhood Brain Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0004218 childhood germ cell brain tumor skos:exactMatch UMLS:C1377598 semapv:UnspecifiedMatching MONDO:0004219 polyvesicular vitelline pattern testicular yolk sac tumor skos:exactMatch DOID:7435 polyvesicular vitelline pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004219 polyvesicular vitelline pattern testicular yolk sac tumor skos:exactMatch NCIT:C39930 Testicular Yolk Sac Tumor, Polyvesicular Vitelline Pattern semapv:UnspecifiedMatching MONDO:0004219 polyvesicular vitelline pattern testicular yolk sac tumor skos:exactMatch UMLS:C1515311 semapv:UnspecifiedMatching MONDO:0004220 endometrial endometrioid adenocarcinoma with spindled epithelial cells skos:exactMatch DOID:7436 sarcomatoid uterine corpus endometrioid adenocarcinoma semapv:UnspecifiedMatching MONDO:0004220 endometrial endometrioid adenocarcinoma with spindled epithelial cells skos:exactMatch NCIT:C27850 Endometrial Endometrioid Adenocarcinoma with Spindled Epithelial Cells semapv:UnspecifiedMatching MONDO:0004220 endometrial endometrioid adenocarcinoma with spindled epithelial cells skos:exactMatch UMLS:C1336913 semapv:UnspecifiedMatching MONDO:0004221 uterine corpus perivascular epithelioid cell tumor skos:exactMatch DOID:7437 uterus perivascular epithelioid cell tumor semapv:UnspecifiedMatching MONDO:0004221 uterine corpus perivascular epithelioid cell tumor skos:exactMatch NCIT:C40180 Uterine Corpus PEComa semapv:UnspecifiedMatching MONDO:0004221 uterine corpus perivascular epithelioid cell tumor skos:exactMatch UMLS:C1519862 semapv:UnspecifiedMatching MONDO:0004222 ovarian clear cell cystadenocarcinoma skos:exactMatch DOID:7438 ovarian clear cell cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0004222 ovarian clear cell cystadenocarcinoma skos:exactMatch NCIT:C7980 Ovarian Clear Cell Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0004222 ovarian clear cell cystadenocarcinoma skos:exactMatch UMLS:C0279667 semapv:UnspecifiedMatching MONDO:0004223 polyp of middle ear skos:exactMatch DOID:7439 polyp of middle ear semapv:UnspecifiedMatching MONDO:0004223 polyp of middle ear skos:exactMatch ICD10CM:H74.4 Polyp of middle ear semapv:UnspecifiedMatching MONDO:0004223 polyp of middle ear skos:exactMatch NCIT:C6933 Middle Ear Polyp semapv:UnspecifiedMatching MONDO:0004223 polyp of middle ear skos:exactMatch SCTID:73103007 semapv:UnspecifiedMatching MONDO:0004223 polyp of middle ear skos:exactMatch UMLS:C0271466 semapv:UnspecifiedMatching MONDO:0004224 chronic metabolic polyneuropathy skos:exactMatch DOID:7441 chronic metabolic polyneuropathy semapv:UnspecifiedMatching MONDO:0004224 chronic metabolic polyneuropathy skos:exactMatch NCIT:C35602 Chronic Metabolic Polyneuropathy semapv:UnspecifiedMatching MONDO:0004224 chronic metabolic polyneuropathy skos:exactMatch UMLS:C1333042 semapv:UnspecifiedMatching MONDO:0004225 monoclonal gammopathy of uncertain significance skos:exactMatch DOID:7442 monoclonal gammopathy of uncertain significance semapv:UnspecifiedMatching MONDO:0004225 monoclonal gammopathy of uncertain significance skos:exactMatch NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance semapv:UnspecifiedMatching MONDO:0004225 monoclonal gammopathy of uncertain significance skos:exactMatch SCTID:277577000 semapv:UnspecifiedMatching MONDO:0004225 monoclonal gammopathy of uncertain significance skos:exactMatch SCTID:58648008 semapv:UnspecifiedMatching MONDO:0004225 monoclonal gammopathy of uncertain significance skos:exactMatch UMLS:C0026470 semapv:UnspecifiedMatching MONDO:0004225 monoclonal gammopathy of uncertain significance skos:exactMatch mesh:D008998 semapv:UnspecifiedMatching MONDO:0004226 diffuse intraductal papillomatosis skos:exactMatch NCIT:C7364 Diffuse Intraductal Papillomatosis semapv:UnspecifiedMatching MONDO:0004226 diffuse intraductal papillomatosis skos:exactMatch UMLS:C1377912 semapv:UnspecifiedMatching MONDO:0004227 epididymal adenomatoid tumor skos:exactMatch DOID:745 epididymis adenomatoid tumor semapv:UnspecifiedMatching MONDO:0004227 epididymal adenomatoid tumor skos:exactMatch NCIT:C6382 Epididymal Adenomatoid Tumor semapv:UnspecifiedMatching MONDO:0004227 epididymal adenomatoid tumor skos:exactMatch SCTID:449052009 semapv:UnspecifiedMatching MONDO:0004227 epididymal adenomatoid tumor skos:exactMatch UMLS:C1333415 semapv:UnspecifiedMatching MONDO:0004229 acantholytic variant squamous cell breast carcinoma skos:exactMatch DOID:7459 acantholytic variant squamous cell breast carcinoma semapv:UnspecifiedMatching MONDO:0004229 acantholytic variant squamous cell breast carcinoma skos:exactMatch NCIT:C40359 Breast Squamous Cell Carcinoma, Acantholytic Variant semapv:UnspecifiedMatching MONDO:0004229 acantholytic variant squamous cell breast carcinoma skos:exactMatch UMLS:C1519485 semapv:UnspecifiedMatching MONDO:0004230 adenomatoid tumor skos:exactMatch DOID:746 adenomatoid tumor semapv:UnspecifiedMatching MONDO:0004230 adenomatoid tumor skos:exactMatch NCIT:C3762 Adenomatoid Tumor semapv:UnspecifiedMatching MONDO:0004230 adenomatoid tumor skos:exactMatch UMLS:C0206675 semapv:UnspecifiedMatching MONDO:0004230 adenomatoid tumor skos:exactMatch mesh:D018254 semapv:UnspecifiedMatching MONDO:0004231 spindle cell variant squamous cell breast carcinoma skos:exactMatch DOID:7460 spindle cell variant squamous cell breast carcinoma semapv:UnspecifiedMatching MONDO:0004231 spindle cell variant squamous cell breast carcinoma skos:exactMatch NCIT:C40358 Breast Squamous Cell Carcinoma, Spindle Cell Variant semapv:UnspecifiedMatching MONDO:0004231 spindle cell variant squamous cell breast carcinoma skos:exactMatch UMLS:C1519487 semapv:UnspecifiedMatching MONDO:0004232 large cell keratinizing variant squamous cell breast carcinoma skos:exactMatch DOID:7461 large cell keratinizing variant squamous cell breast carcinoma semapv:UnspecifiedMatching MONDO:0004232 large cell keratinizing variant squamous cell breast carcinoma skos:exactMatch NCIT:C40357 Breast Squamous Cell Carcinoma, Large Cell Keratinizing Variant semapv:UnspecifiedMatching MONDO:0004232 large cell keratinizing variant squamous cell breast carcinoma skos:exactMatch UMLS:C1519486 semapv:UnspecifiedMatching MONDO:0004233 childhood pleomorphic rhabdomyosarcoma skos:exactMatch DOID:7463 childhood pleomorphic rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0004233 childhood pleomorphic rhabdomyosarcoma skos:exactMatch NCIT:C7959 Childhood Pleomorphic Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0004233 childhood pleomorphic rhabdomyosarcoma skos:exactMatch UMLS:C0279614 semapv:UnspecifiedMatching MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:exactMatch DOID:7465 chronic NK-cell lymphocytosis semapv:UnspecifiedMatching MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:exactMatch NCIT:C39591 Chronic Lymphoproliferative Disorder of NK-Cells semapv:UnspecifiedMatching MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:exactMatch Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells semapv:UnspecifiedMatching MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:exactMatch SCTID:722955006 semapv:UnspecifiedMatching MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:exactMatch UMLS:C1512709 semapv:UnspecifiedMatching MONDO:0004235 diverticulitis skos:exactMatch DOID:7475 diverticulitis semapv:UnspecifiedMatching MONDO:0004235 diverticulitis skos:exactMatch NCIT:C26752 Diverticulitis semapv:UnspecifiedMatching MONDO:0004235 diverticulitis skos:exactMatch SCTID:307496006 semapv:UnspecifiedMatching MONDO:0004235 diverticulitis skos:exactMatch UMLS:C0012813 semapv:UnspecifiedMatching MONDO:0004235 diverticulitis skos:exactMatch mesh:D004238 semapv:UnspecifiedMatching MONDO:0004236 duodenal somatostatinoma skos:exactMatch DOID:7479 duodenal somatostatinoma semapv:UnspecifiedMatching MONDO:0004236 duodenal somatostatinoma skos:exactMatch NCIT:C27407 Duodenal Somatostatin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0004236 duodenal somatostatinoma skos:exactMatch UMLS:C1333320 semapv:UnspecifiedMatching MONDO:0004237 large cell carcinoma with rhabdoid phenotype skos:exactMatch DOID:7480 large cell carcinoma with rhabdoid phenotype semapv:UnspecifiedMatching MONDO:0004237 large cell carcinoma with rhabdoid phenotype skos:exactMatch NCIT:C6876 Lung Large Cell Carcinoma with Rhabdoid Phenotype semapv:UnspecifiedMatching MONDO:0004237 large cell carcinoma with rhabdoid phenotype skos:exactMatch UMLS:C1265997 semapv:UnspecifiedMatching MONDO:0004238 petrous apex meningioma skos:exactMatch DOID:7482 petrous apex meningioma semapv:UnspecifiedMatching MONDO:0004238 petrous apex meningioma skos:exactMatch NCIT:C5271 Petrous Apex Meningioma semapv:UnspecifiedMatching MONDO:0004238 petrous apex meningioma skos:exactMatch UMLS:C1335396 semapv:UnspecifiedMatching MONDO:0004239 cervical keratinizing squamous cell carcinoma skos:exactMatch DOID:7483 cervical keratinizing squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004239 cervical keratinizing squamous cell carcinoma skos:exactMatch NCIT:C40187 Cervical Keratinizing Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004239 cervical keratinizing squamous cell carcinoma skos:exactMatch UMLS:C1517658 semapv:UnspecifiedMatching MONDO:0004240 posterior urethra cancer skos:exactMatch DOID:7488 posterior urethra cancer semapv:UnspecifiedMatching MONDO:0004240 posterior urethra cancer skos:exactMatch NCIT:C7640 Posterior Urethral Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0004240 posterior urethra cancer skos:exactMatch UMLS:C0279931 semapv:UnspecifiedMatching MONDO:0004241 Osgood-Schlatter disease skos:exactMatch DOID:7489 Osgood-Schlatter's disease semapv:UnspecifiedMatching MONDO:0004241 Osgood-Schlatter disease skos:exactMatch NCIT:C34874 Osgood-Schlatter's Disease semapv:UnspecifiedMatching MONDO:0004241 Osgood-Schlatter disease skos:exactMatch Orphanet:97335 Osgood-Schlatter disease semapv:UnspecifiedMatching MONDO:0004241 Osgood-Schlatter disease skos:exactMatch SCTID:430506003 semapv:UnspecifiedMatching MONDO:0004241 Osgood-Schlatter disease skos:exactMatch SCTID:72047008 semapv:UnspecifiedMatching MONDO:0004242 active peptic ulcer disease skos:exactMatch DOID:749 active peptic ulcer disease semapv:UnspecifiedMatching MONDO:0004242 active peptic ulcer disease skos:exactMatch SCTID:74474003 semapv:UnspecifiedMatching MONDO:0004243 vulvar proximal-type epithelioid sarcoma skos:exactMatch DOID:7491 vulvar proximal-type epithelioid sarcoma semapv:UnspecifiedMatching MONDO:0004243 vulvar proximal-type epithelioid sarcoma skos:exactMatch NCIT:C40319 Vulvar Proximal-Type Epithelioid Sarcoma semapv:UnspecifiedMatching MONDO:0004243 vulvar proximal-type epithelioid sarcoma skos:exactMatch UMLS:C1520093 semapv:UnspecifiedMatching MONDO:0004244 proximal-type epithelioid sarcoma skos:exactMatch DOID:7492 central epithelioid sarcoma semapv:UnspecifiedMatching MONDO:0004244 proximal-type epithelioid sarcoma skos:exactMatch NCIT:C27472 Proximal-Type Epithelioid Sarcoma semapv:UnspecifiedMatching MONDO:0004244 proximal-type epithelioid sarcoma skos:exactMatch UMLS:C1335563 semapv:UnspecifiedMatching MONDO:0004245 ependymal tumor of brain skos:exactMatch DOID:7497 brain ependymoma semapv:UnspecifiedMatching MONDO:0004245 ependymal tumor of brain skos:exactMatch NCIT:C3861 Brain Ependymal Tumor semapv:UnspecifiedMatching MONDO:0004245 ependymal tumor of brain skos:exactMatch SCTID:254939008 semapv:UnspecifiedMatching MONDO:0004245 ependymal tumor of brain skos:exactMatch UMLS:C0238029 semapv:UnspecifiedMatching MONDO:0004247 peptic ulcer disease skos:exactMatch DOID:750 peptic ulcer disease semapv:UnspecifiedMatching MONDO:0004247 peptic ulcer disease skos:exactMatch NCIT:C3318 Peptic Ulcer semapv:UnspecifiedMatching MONDO:0004247 peptic ulcer disease skos:exactMatch SCTID:13200003 semapv:UnspecifiedMatching MONDO:0004247 peptic ulcer disease skos:exactMatch UMLS:C0030920 semapv:UnspecifiedMatching MONDO:0004247 peptic ulcer disease skos:exactMatch mesh:D010437 semapv:UnspecifiedMatching MONDO:0004248 pediatric infratentorial ependymoma skos:exactMatch DOID:7501 childhood infratentorial ependymoma semapv:UnspecifiedMatching MONDO:0004248 pediatric infratentorial ependymoma skos:exactMatch NCIT:C9041 Childhood Infratentorial Ependymoma semapv:UnspecifiedMatching MONDO:0004248 pediatric infratentorial ependymoma skos:exactMatch UMLS:C0278599 semapv:UnspecifiedMatching MONDO:0004249 pediatric supratentorial ependymoma skos:exactMatch DOID:7502 childhood supratentorial ependymoma semapv:UnspecifiedMatching MONDO:0004249 pediatric supratentorial ependymoma skos:exactMatch NCIT:C9043 Childhood Supratentorial Ependymoma, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0004249 pediatric supratentorial ependymoma skos:exactMatch UMLS:C0278650 semapv:UnspecifiedMatching MONDO:0004250 extrahepatic bile duct papillary adenoma skos:exactMatch DOID:7503 extrahepatic bile duct papillary adenoma semapv:UnspecifiedMatching MONDO:0004250 extrahepatic bile duct papillary adenoma skos:exactMatch NCIT:C5849 Extrahepatic Bile Duct Papillary Adenoma semapv:UnspecifiedMatching MONDO:0004250 extrahepatic bile duct papillary adenoma skos:exactMatch UMLS:C1333510 semapv:UnspecifiedMatching MONDO:0004251 small intestine neoplasm skos:exactMatch DOID:7505 small intestine benign neoplasm semapv:UnspecifiedMatching MONDO:0004251 small intestine neoplasm skos:exactMatch NCIT:C4432 Small Intestinal Neoplasm semapv:UnspecifiedMatching MONDO:0004251 small intestine neoplasm skos:exactMatch SCTID:126832004 semapv:UnspecifiedMatching MONDO:0004251 small intestine neoplasm skos:exactMatch UMLS:C0345832 semapv:UnspecifiedMatching MONDO:0004252 small intestinal L-cell glucagon-like peptide producing tumor skos:exactMatch DOID:7506 small intestinal L-cell glucagon-like peptide producing tumor semapv:UnspecifiedMatching MONDO:0004252 small intestinal L-cell glucagon-like peptide producing tumor skos:exactMatch NCIT:C27452 Small Intestinal L-Cell Glucagon-Like Peptide-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0004252 small intestinal L-cell glucagon-like peptide producing tumor skos:exactMatch UMLS:C3274143 semapv:UnspecifiedMatching MONDO:0004253 intraductal breast papillomatosis skos:exactMatch DOID:7511 breast intraductal papillomatosis semapv:UnspecifiedMatching MONDO:0004253 intraductal breast papillomatosis skos:exactMatch NCIT:C5201 Breast Intraductal Papillomatosis semapv:UnspecifiedMatching MONDO:0004253 intraductal breast papillomatosis skos:exactMatch UMLS:C1334247 semapv:UnspecifiedMatching MONDO:0004254 focal intraductal papillomatosis skos:exactMatch NCIT:C7365 Focal Intraductal Papillomatosis semapv:UnspecifiedMatching MONDO:0004254 focal intraductal papillomatosis skos:exactMatch UMLS:C1333626 semapv:UnspecifiedMatching MONDO:0004255 Wolffian adnexal tumor skos:exactMatch DOID:7514 Wolffian adnexal neoplasm semapv:UnspecifiedMatching MONDO:0004255 Wolffian adnexal tumor skos:exactMatch NCIT:C40141 Wolffian Tumor semapv:UnspecifiedMatching MONDO:0004255 Wolffian adnexal tumor skos:exactMatch UMLS:C1520159 semapv:UnspecifiedMatching MONDO:0004255 Wolffian adnexal tumor skos:exactMatch mesh:C536741 semapv:UnspecifiedMatching MONDO:0004256 lumbar spinal canal and spinal cord meningioma skos:exactMatch DOID:7515 lumbar spinal canal and spinal cord meningioma semapv:UnspecifiedMatching MONDO:0004256 lumbar spinal canal and spinal cord meningioma skos:exactMatch NCIT:C5298 Lumbar Intraspinal Meningioma semapv:UnspecifiedMatching MONDO:0004256 lumbar spinal canal and spinal cord meningioma skos:exactMatch UMLS:C1334436 semapv:UnspecifiedMatching MONDO:0004257 childhood central nervous system mixed germ cell tumor skos:exactMatch DOID:7516 childhood central nervous system mixed germ cell tumor semapv:UnspecifiedMatching MONDO:0004257 childhood central nervous system mixed germ cell tumor skos:exactMatch NCIT:C27403 Childhood Central Nervous System Mixed Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0004257 childhood central nervous system mixed germ cell tumor skos:exactMatch UMLS:C1332956 semapv:UnspecifiedMatching MONDO:0004258 female orgasmic disorder skos:exactMatch DOID:7518 inhibited female orgasm semapv:UnspecifiedMatching MONDO:0004258 female orgasmic disorder skos:exactMatch ICD10CM:F52.31 Female orgasmic disorder semapv:UnspecifiedMatching MONDO:0004258 female orgasmic disorder skos:exactMatch NCIT:C34958 Female Orgasmic Disorder semapv:UnspecifiedMatching MONDO:0004258 female orgasmic disorder skos:exactMatch SCTID:60103007 semapv:UnspecifiedMatching MONDO:0004259 endocervical carcinoma skos:exactMatch DOID:7519 endocervical carcinoma semapv:UnspecifiedMatching MONDO:0004259 endocervical carcinoma skos:exactMatch SCTID:372098004 semapv:UnspecifiedMatching MONDO:0004259 endocervical carcinoma skos:exactMatch UMLS:C1299237 semapv:UnspecifiedMatching MONDO:0004260 peptic ulcer perforation skos:exactMatch DOID:752 peptic ulcer perforation semapv:UnspecifiedMatching MONDO:0004260 peptic ulcer perforation skos:exactMatch SCTID:79118000 semapv:UnspecifiedMatching MONDO:0004260 peptic ulcer perforation skos:exactMatch UMLS:C0030925 semapv:UnspecifiedMatching MONDO:0004260 peptic ulcer perforation skos:exactMatch UMLS:C0267291 semapv:UnspecifiedMatching MONDO:0004260 peptic ulcer perforation skos:exactMatch mesh:D010439 semapv:UnspecifiedMatching MONDO:0004261 periductal breast myoepitheliosis skos:exactMatch DOID:7520 periductal breast myoepitheliosis semapv:UnspecifiedMatching MONDO:0004261 periductal breast myoepitheliosis skos:exactMatch NCIT:C40388 Breast Periductal Myoepitheliosis semapv:UnspecifiedMatching MONDO:0004261 periductal breast myoepitheliosis skos:exactMatch UMLS:C1518974 semapv:UnspecifiedMatching MONDO:0004262 breast myoepitheliosis skos:exactMatch DOID:7521 breast myoepitheliosis semapv:UnspecifiedMatching MONDO:0004262 breast myoepitheliosis skos:exactMatch NCIT:C40385 Breast Myoepitheliosis semapv:UnspecifiedMatching MONDO:0004262 breast myoepitheliosis skos:exactMatch UMLS:C1513799 semapv:UnspecifiedMatching MONDO:0004263 pediatric infratentorial ependymoblastoma skos:exactMatch DOID:7522 childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered semapv:UnspecifiedMatching MONDO:0004263 pediatric infratentorial ependymoblastoma skos:exactMatch NCIT:C6773 Childhood Infratentorial Embryonal Tumor with Multilayered Rosettes, C19MC-Altered semapv:UnspecifiedMatching MONDO:0004263 pediatric infratentorial ependymoblastoma skos:exactMatch UMLS:C1332972 semapv:UnspecifiedMatching MONDO:0004264 acute gonococcal endometritis skos:exactMatch DOID:7527 acute gonococcal endometritis semapv:UnspecifiedMatching MONDO:0004264 acute gonococcal endometritis skos:exactMatch SCTID:65295003 semapv:UnspecifiedMatching MONDO:0004264 acute gonococcal endometritis skos:exactMatch UMLS:C0153196 semapv:UnspecifiedMatching MONDO:0004265 acute endometritis skos:exactMatch DOID:7528 acute endometritis semapv:UnspecifiedMatching MONDO:0004265 acute endometritis skos:exactMatch NCIT:C27022 Acute Endometritis semapv:UnspecifiedMatching MONDO:0004265 acute endometritis skos:exactMatch SCTID:67667007 semapv:UnspecifiedMatching MONDO:0004265 acute endometritis skos:exactMatch UMLS:C0238103 semapv:UnspecifiedMatching MONDO:0004266 anal gland adenocarcinoma skos:exactMatch DOID:7531 anal gland adenocarcinoma semapv:UnspecifiedMatching MONDO:0004266 anal gland adenocarcinoma skos:exactMatch NCIT:C5609 Anal Glands Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004266 anal gland adenocarcinoma skos:exactMatch UMLS:C1266027 semapv:UnspecifiedMatching MONDO:0004267 squamous papillomatosis skos:exactMatch DOID:7532 squamous papillomatosis semapv:UnspecifiedMatching MONDO:0004267 squamous papillomatosis skos:exactMatch NCIT:C9009 Squamous Papillomatosis semapv:UnspecifiedMatching MONDO:0004267 squamous papillomatosis skos:exactMatch UMLS:C1378340 semapv:UnspecifiedMatching MONDO:0004268 obsolete subareolar duct papillomatosis skos:exactMatch DOID:7533 subareolar duct papillomatosis semapv:UnspecifiedMatching MONDO:0004269 breast cystic hypersecretory carcinoma skos:exactMatch DOID:7537 breast cystic hypersecretory carcinoma semapv:UnspecifiedMatching MONDO:0004270 breast ductal adenoma skos:exactMatch DOID:7538 breast ductal adenoma semapv:UnspecifiedMatching MONDO:0004270 breast ductal adenoma skos:exactMatch NCIT:C40384 Breast Ductal Adenoma semapv:UnspecifiedMatching MONDO:0004270 breast ductal adenoma skos:exactMatch UMLS:C1511307 semapv:UnspecifiedMatching MONDO:0004271 pregnancy adenoma skos:exactMatch DOID:7539 pregnancy adenoma semapv:UnspecifiedMatching MONDO:0004271 pregnancy adenoma skos:exactMatch NCIT:C9473 Lactating Adenoma semapv:UnspecifiedMatching MONDO:0004271 pregnancy adenoma skos:exactMatch UMLS:C1266023 semapv:UnspecifiedMatching MONDO:0004272 urinary bladder tuberculosis skos:exactMatch DOID:754 bladder tuberculosis semapv:UnspecifiedMatching MONDO:0004272 urinary bladder tuberculosis skos:exactMatch SCTID:32268008 semapv:UnspecifiedMatching MONDO:0004272 urinary bladder tuberculosis skos:exactMatch UMLS:C0152793 semapv:UnspecifiedMatching MONDO:0004273 breast apocrine adenoma skos:exactMatch DOID:7540 breast apocrine adenoma semapv:UnspecifiedMatching MONDO:0004273 breast apocrine adenoma skos:exactMatch NCIT:C40383 Breast Apocrine Adenoma semapv:UnspecifiedMatching MONDO:0004273 breast apocrine adenoma skos:exactMatch UMLS:C1388299 semapv:UnspecifiedMatching MONDO:0004274 mixed epithelial/mesenchymal metaplastic breast carcinoma skos:exactMatch DOID:7541 mixed epithelial/mesenchymal metaplastic breast carcinoma semapv:UnspecifiedMatching MONDO:0004274 mixed epithelial/mesenchymal metaplastic breast carcinoma skos:exactMatch NCIT:C40364 Breast Mixed Epithelial/Mesenchymal Metaplastic Carcinoma semapv:UnspecifiedMatching MONDO:0004274 mixed epithelial/mesenchymal metaplastic breast carcinoma skos:exactMatch UMLS:C1513365 semapv:UnspecifiedMatching MONDO:0004275 osteosarcoma arising in bone Paget disease skos:exactMatch DOID:7542 osteosarcoma arising in bone Paget's disease semapv:UnspecifiedMatching MONDO:0004275 osteosarcoma arising in bone Paget disease skos:exactMatch NCIT:C6469 Osteosarcoma Arising in Paget Disease of Bone semapv:UnspecifiedMatching MONDO:0004275 osteosarcoma arising in bone Paget disease skos:exactMatch UMLS:C0334546 semapv:UnspecifiedMatching MONDO:0004276 ceruminoma skos:exactMatch DOID:7549 ceruminoma semapv:UnspecifiedMatching MONDO:0004276 ceruminoma skos:exactMatch NCIT:C6088 Ceruminous Adenoma semapv:UnspecifiedMatching MONDO:0004276 ceruminoma skos:exactMatch SCTID:403945001 semapv:UnspecifiedMatching MONDO:0004276 ceruminoma skos:exactMatch UMLS:C0334352 semapv:UnspecifiedMatching MONDO:0004277 gonorrhea skos:exactMatch DOID:7551 gonorrhea semapv:UnspecifiedMatching MONDO:0004277 gonorrhea skos:exactMatch NCIT:C92950 Gonorrhea semapv:UnspecifiedMatching MONDO:0004277 gonorrhea skos:exactMatch SCTID:15628003 semapv:UnspecifiedMatching MONDO:0004277 gonorrhea skos:exactMatch UMLS:C0018081 semapv:UnspecifiedMatching MONDO:0004277 gonorrhea skos:exactMatch mesh:D006069 semapv:UnspecifiedMatching MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:exactMatch DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant semapv:UnspecifiedMatching MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:exactMatch NCIT:C39824 Invasive Bladder Sarcomatoid Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:exactMatch UMLS:C1512743 semapv:UnspecifiedMatching MONDO:0004279 glossopharyngeal motor neuropathy skos:exactMatch DOID:7558 glossopharyngeal motor neuropathy semapv:UnspecifiedMatching MONDO:0004279 glossopharyngeal motor neuropathy skos:exactMatch NCIT:C27212 Glossopharyngeal Motor Neuropathy semapv:UnspecifiedMatching MONDO:0004279 glossopharyngeal motor neuropathy skos:exactMatch UMLS:C0751942 semapv:UnspecifiedMatching MONDO:0004280 asymmetric motor neuropathy skos:exactMatch DOID:7559 asymmetric motor neuropathy semapv:UnspecifiedMatching MONDO:0004280 asymmetric motor neuropathy skos:exactMatch NCIT:C27953 Asymmetric Motor Neuropathy semapv:UnspecifiedMatching MONDO:0004280 asymmetric motor neuropathy skos:exactMatch UMLS:C1332341 semapv:UnspecifiedMatching MONDO:0004281 vulvar eccrine porocarcinoma skos:exactMatch DOID:7565 vulvar eccrine porocarcinoma semapv:UnspecifiedMatching MONDO:0004281 vulvar eccrine porocarcinoma skos:exactMatch NCIT:C40306 Vulvar Porocarcinoma semapv:UnspecifiedMatching MONDO:0004281 vulvar eccrine porocarcinoma skos:exactMatch UMLS:C1520081 semapv:UnspecifiedMatching MONDO:0004283 vulvar clear cell hidradenocarcinoma skos:exactMatch DOID:7567 vulvar clear cell hidradenocarcinoma semapv:UnspecifiedMatching MONDO:0004283 vulvar clear cell hidradenocarcinoma skos:exactMatch NCIT:C40307 Vulvar Clear Cell Hidradenocarcinoma semapv:UnspecifiedMatching MONDO:0004283 vulvar clear cell hidradenocarcinoma skos:exactMatch UMLS:C1520076 semapv:UnspecifiedMatching MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:exactMatch DOID:7574 pancreatic intraductal papillary-colloid carcinoma semapv:UnspecifiedMatching MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:exactMatch NCIT:C5725 Pancreatic Intraductal Papillary-Mucinous Carcinoma semapv:UnspecifiedMatching MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:exactMatch Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas semapv:UnspecifiedMatching MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:exactMatch UMLS:C1335304 semapv:UnspecifiedMatching MONDO:0004286 pancreatic intraductal papillary-mucinous neoplasm skos:exactMatch DOID:7575 pancreatic intraductal papillary-mucinous neoplasm semapv:UnspecifiedMatching MONDO:0004286 pancreatic intraductal papillary-mucinous neoplasm skos:exactMatch NCIT:C38342 Pancreatic Intraductal Papillary-Mucinous Neoplasm semapv:UnspecifiedMatching MONDO:0004287 pancreatic foamy gland adenocarcinoma skos:exactMatch DOID:7577 pancreatic foamy gland adenocarcinoma semapv:UnspecifiedMatching MONDO:0004287 pancreatic foamy gland adenocarcinoma skos:exactMatch NCIT:C37256 Pancreatic Foamy Gland Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004287 pancreatic foamy gland adenocarcinoma skos:exactMatch UMLS:C1335303 semapv:UnspecifiedMatching MONDO:0004288 scirrhous breast carcinoma skos:exactMatch DOID:7578 breast scirrhous carcinoma semapv:UnspecifiedMatching MONDO:0004288 scirrhous breast carcinoma skos:exactMatch NCIT:C7362 Breast Scirrhous Carcinoma semapv:UnspecifiedMatching MONDO:0004288 scirrhous breast carcinoma skos:exactMatch SCTID:254839007 semapv:UnspecifiedMatching MONDO:0004288 scirrhous breast carcinoma skos:exactMatch UMLS:C0346151 semapv:UnspecifiedMatching MONDO:0004289 glottis verrucous carcinoma skos:exactMatch DOID:7583 glottis verrucous carcinoma semapv:UnspecifiedMatching MONDO:0004289 glottis verrucous carcinoma skos:exactMatch NCIT:C8189 Glottis Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0004289 glottis verrucous carcinoma skos:exactMatch UMLS:C0280329 semapv:UnspecifiedMatching MONDO:0004290 subglottis verrucous carcinoma skos:exactMatch DOID:7584 subglottis verrucous carcinoma semapv:UnspecifiedMatching MONDO:0004290 subglottis verrucous carcinoma skos:exactMatch NCIT:C8190 Subglottic Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0004290 subglottis verrucous carcinoma skos:exactMatch UMLS:C0280330 semapv:UnspecifiedMatching MONDO:0004291 subglottis squamous cell carcinoma skos:exactMatch DOID:7585 subglottis squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004291 subglottis squamous cell carcinoma skos:exactMatch NCIT:C8187 Subglottic Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004291 subglottis squamous cell carcinoma skos:exactMatch UMLS:C0280326 semapv:UnspecifiedMatching MONDO:0004292 supraglottis verrucous carcinoma skos:exactMatch DOID:7586 supraglottis verrucous carcinoma semapv:UnspecifiedMatching MONDO:0004292 supraglottis verrucous carcinoma skos:exactMatch NCIT:C8191 Supraglottic Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0004292 supraglottis verrucous carcinoma skos:exactMatch UMLS:C0280331 semapv:UnspecifiedMatching MONDO:0004293 supraglottis squamous cell carcinoma skos:exactMatch DOID:7587 supraglottis squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004293 supraglottis squamous cell carcinoma skos:exactMatch NCIT:C4945 Supraglottic Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004293 supraglottis squamous cell carcinoma skos:exactMatch UMLS:C0749163 semapv:UnspecifiedMatching MONDO:0004294 gestational ovarian choriocarcinoma skos:exactMatch DOID:7591 gestational ovarian choriocarcinoma semapv:UnspecifiedMatching MONDO:0004294 gestational ovarian choriocarcinoma skos:exactMatch NCIT:C40442 Ovarian Gestational Choriocarcinoma semapv:UnspecifiedMatching MONDO:0004294 gestational ovarian choriocarcinoma skos:exactMatch UMLS:C1517538 semapv:UnspecifiedMatching MONDO:0004295 asbestos-related lung carcinoma skos:exactMatch DOID:7596 asbestos-related lung carcinoma semapv:UnspecifiedMatching MONDO:0004295 asbestos-related lung carcinoma skos:exactMatch NCIT:C27925 Asbestos-Related Lung Carcinoma semapv:UnspecifiedMatching MONDO:0004295 asbestos-related lung carcinoma skos:exactMatch UMLS:C1332337 semapv:UnspecifiedMatching MONDO:0004296 cervical lymphoepithelioma-like carcinoma skos:exactMatch DOID:7598 cervical lymphoepithelioma-like carcinoma semapv:UnspecifiedMatching MONDO:0004296 cervical lymphoepithelioma-like carcinoma skos:exactMatch NCIT:C40193 Cervical Lymphoepithelioma-Like Carcinoma semapv:UnspecifiedMatching MONDO:0004296 cervical lymphoepithelioma-like carcinoma skos:exactMatch UMLS:C1516418 semapv:UnspecifiedMatching MONDO:0004297 lymphoepithelioma-like thymic carcinoma skos:exactMatch DOID:7599 lymphoepithelioma-like thymic carcinoma semapv:UnspecifiedMatching MONDO:0004297 lymphoepithelioma-like thymic carcinoma skos:exactMatch NCIT:C7998 Thymic Lymphoepithelial Carcinoma semapv:UnspecifiedMatching MONDO:0004297 lymphoepithelioma-like thymic carcinoma skos:exactMatch UMLS:C0279706 semapv:UnspecifiedMatching MONDO:0004298 stomach disorder skos:exactMatch DOID:76 stomach disease semapv:UnspecifiedMatching MONDO:0004298 stomach disorder skos:exactMatch NCIT:C26886 Stomach Disorder semapv:UnspecifiedMatching MONDO:0004298 stomach disorder skos:exactMatch SCTID:29384001 semapv:UnspecifiedMatching MONDO:0004298 stomach disorder skos:exactMatch UMLS:C0038354 semapv:UnspecifiedMatching MONDO:0004298 stomach disorder skos:exactMatch mesh:D013272 semapv:UnspecifiedMatching MONDO:0004299 infiltrating bladder lymphoepithelioma-like carcinoma skos:exactMatch DOID:7600 infiltrating bladder lymphoepithelioma-like carcinoma semapv:UnspecifiedMatching MONDO:0004299 infiltrating bladder lymphoepithelioma-like carcinoma skos:exactMatch NCIT:C39821 Invasive Bladder Lymphoepithelioma-Like Carcinoma semapv:UnspecifiedMatching MONDO:0004299 infiltrating bladder lymphoepithelioma-like carcinoma skos:exactMatch UMLS:C1512736 semapv:UnspecifiedMatching MONDO:0004301 fibrosarcomatous osteosarcoma skos:exactMatch DOID:7603 fibrosarcomatous osteosarcoma semapv:UnspecifiedMatching MONDO:0004301 fibrosarcomatous osteosarcoma skos:exactMatch NCIT:C4020 Fibroblastic Osteosarcoma semapv:UnspecifiedMatching MONDO:0004301 fibrosarcomatous osteosarcoma skos:exactMatch UMLS:C0279602 semapv:UnspecifiedMatching MONDO:0004302 chief cell adenoma skos:exactMatch DOID:7607 chief cell adenoma semapv:UnspecifiedMatching MONDO:0004302 chief cell adenoma skos:exactMatch NCIT:C4154 Parathyroid Gland Chief Cell Adenoma semapv:UnspecifiedMatching MONDO:0004302 chief cell adenoma skos:exactMatch UMLS:C0334320 semapv:UnspecifiedMatching MONDO:0004303 parathyroid gland clear cell adenoma skos:exactMatch DOID:7609 parathyroid transitional clear cell adenoma semapv:UnspecifiedMatching MONDO:0004303 parathyroid gland clear cell adenoma skos:exactMatch NCIT:C7993 Parathyroid Gland Clear Cell Adenoma semapv:UnspecifiedMatching MONDO:0004303 parathyroid gland clear cell adenoma skos:exactMatch UMLS:C0279700 semapv:UnspecifiedMatching MONDO:0004304 mixed cell type adenoma of parathyroid skos:exactMatch DOID:7610 mixed cell type adenoma of parathyroid semapv:UnspecifiedMatching MONDO:0004304 mixed cell type adenoma of parathyroid skos:exactMatch NCIT:C7994 Parathyroid Gland Mixed Cell Type Adenoma semapv:UnspecifiedMatching MONDO:0004304 mixed cell type adenoma of parathyroid skos:exactMatch UMLS:C0279701 semapv:UnspecifiedMatching MONDO:0004305 parathyroid oncocytic adenoma skos:exactMatch DOID:7611 parathyroid oncocytic adenoma semapv:UnspecifiedMatching MONDO:0004305 parathyroid oncocytic adenoma skos:exactMatch NCIT:C27393 Parathyroid Gland Oncocytic Adenoma semapv:UnspecifiedMatching MONDO:0004305 parathyroid oncocytic adenoma skos:exactMatch UMLS:C1335351 semapv:UnspecifiedMatching MONDO:0004306 childhood intracortical osteosarcoma skos:exactMatch DOID:7612 childhood intracortical osteosarcoma semapv:UnspecifiedMatching MONDO:0004306 childhood intracortical osteosarcoma skos:exactMatch NCIT:C6590 Childhood Conventional Osteosarcoma semapv:UnspecifiedMatching MONDO:0004306 childhood intracortical osteosarcoma skos:exactMatch UMLS:C1332974 semapv:UnspecifiedMatching MONDO:0004307 sarcomatosis of the meninges skos:exactMatch DOID:7613 sarcomatosis of the meninges semapv:UnspecifiedMatching MONDO:0004307 sarcomatosis of the meninges skos:exactMatch NCIT:C4334 Meningeal Sarcomatosis semapv:UnspecifiedMatching MONDO:0004307 sarcomatosis of the meninges skos:exactMatch UMLS:C0334612 semapv:UnspecifiedMatching MONDO:0004308 meningeal sarcoma skos:exactMatch DOID:7614 meninges sarcoma semapv:UnspecifiedMatching MONDO:0004308 meningeal sarcoma skos:exactMatch NCIT:C4073 Meningeal Sarcoma semapv:UnspecifiedMatching MONDO:0004308 meningeal sarcoma skos:exactMatch UMLS:C0302327 semapv:UnspecifiedMatching MONDO:0004309 sarcomatosis skos:exactMatch DOID:7615 sarcomatosis semapv:UnspecifiedMatching MONDO:0004309 sarcomatosis skos:exactMatch NCIT:C4243 Sarcomatosis semapv:UnspecifiedMatching MONDO:0004309 sarcomatosis skos:exactMatch UMLS:C0334451 semapv:UnspecifiedMatching MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered skos:exactMatch DOID:7631 adult embryonal tumor with multilayered rosettes, C19MC-altered semapv:UnspecifiedMatching MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered skos:exactMatch NCIT:C8290 Adult Embryonal Tumor with Multilayered Rosettes, C19MC-Altered semapv:UnspecifiedMatching MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered skos:exactMatch UMLS:C0281330 semapv:UnspecifiedMatching MONDO:0004311 carcinoma of Cowper glands skos:exactMatch DOID:7632 Cowper gland carcinoma semapv:UnspecifiedMatching MONDO:0004311 carcinoma of Cowper glands skos:exactMatch NCIT:C39864 Cowper Gland Adenocarcinoma of the Urethra semapv:UnspecifiedMatching MONDO:0004311 carcinoma of Cowper glands skos:exactMatch UMLS:C1516284 semapv:UnspecifiedMatching MONDO:0004312 suprasellar meningioma skos:exactMatch DOID:7634 suprasellar meningioma semapv:UnspecifiedMatching MONDO:0004312 suprasellar meningioma skos:exactMatch NCIT:C6776 Suprasellar Meningioma semapv:UnspecifiedMatching MONDO:0004312 suprasellar meningioma skos:exactMatch UMLS:C1336535 semapv:UnspecifiedMatching MONDO:0004313 gasserian ganglion meningioma skos:exactMatch DOID:7635 Gasserian ganglion meningioma semapv:UnspecifiedMatching MONDO:0004313 gasserian ganglion meningioma skos:exactMatch NCIT:C6779 Gasserian Meningioma semapv:UnspecifiedMatching MONDO:0004313 gasserian ganglion meningioma skos:exactMatch UMLS:C1333760 semapv:UnspecifiedMatching MONDO:0004314 malignant cutaneous granular cell skin tumor skos:exactMatch DOID:7639 malignant granular cell skin tumor semapv:UnspecifiedMatching MONDO:0004314 malignant cutaneous granular cell skin tumor skos:exactMatch NCIT:C5614 Malignant Cutaneous Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0004314 malignant cutaneous granular cell skin tumor skos:exactMatch UMLS:C1334575 semapv:UnspecifiedMatching MONDO:0004315 cholangiolocellular carcinoma skos:exactMatch DOID:7642 cholangiolocellular carcinoma semapv:UnspecifiedMatching MONDO:0004315 cholangiolocellular carcinoma skos:exactMatch NCIT:C41617 Cholangiolocellular Carcinoma semapv:UnspecifiedMatching MONDO:0004315 cholangiolocellular carcinoma skos:exactMatch UMLS:C1516490 semapv:UnspecifiedMatching MONDO:0004316 acantholytic squamous cell skin carcinoma skos:exactMatch DOID:7643 acantholytic squamous cell skin carcinoma semapv:UnspecifiedMatching MONDO:0004316 acantholytic squamous cell skin carcinoma skos:exactMatch NCIT:C4460 Skin Acantholytic Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004316 acantholytic squamous cell skin carcinoma skos:exactMatch SCTID:254654004 semapv:UnspecifiedMatching MONDO:0004316 acantholytic squamous cell skin carcinoma skos:exactMatch UMLS:C0345979 semapv:UnspecifiedMatching MONDO:0004317 multiple spinal canal and spinal cord meningioma skos:exactMatch DOID:7646 multiple spinal canal and spinal cord meningioma semapv:UnspecifiedMatching MONDO:0004317 multiple spinal canal and spinal cord meningioma skos:exactMatch NCIT:C5275 Multiple Intraspinal Meningiomas semapv:UnspecifiedMatching MONDO:0004317 multiple spinal canal and spinal cord meningioma skos:exactMatch UMLS:C1334825 semapv:UnspecifiedMatching MONDO:0004318 pulmonary type ovarian small cell carcinoma skos:exactMatch DOID:7650 pulmonary type ovarian small cell carcinoma semapv:UnspecifiedMatching MONDO:0004318 pulmonary type ovarian small cell carcinoma skos:exactMatch NCIT:C40440 Ovarian Small Cell Carcinoma, Pulmonary-Type semapv:UnspecifiedMatching MONDO:0004318 pulmonary type ovarian small cell carcinoma skos:exactMatch UMLS:C1518737 semapv:UnspecifiedMatching MONDO:0004319 hypercalcemic type ovarian small cell carcinoma skos:exactMatch DOID:7651 small-cell carcinoma of the ovary of hypercalcemic type semapv:UnspecifiedMatching MONDO:0004319 hypercalcemic type ovarian small cell carcinoma skos:exactMatch NCIT:C40439 Ovarian Small Cell Carcinoma, Hypercalcemic Type semapv:UnspecifiedMatching MONDO:0004319 hypercalcemic type ovarian small cell carcinoma skos:exactMatch UMLS:C1518736 semapv:UnspecifiedMatching MONDO:0004320 adult infiltrating astrocytic neoplasm skos:exactMatch DOID:7656 adult infiltrating astrocytic neoplasm semapv:UnspecifiedMatching MONDO:0004320 adult infiltrating astrocytic neoplasm skos:exactMatch NCIT:C8289 Adult Infiltrating Astrocytic Tumor semapv:UnspecifiedMatching MONDO:0004320 adult infiltrating astrocytic neoplasm skos:exactMatch UMLS:C0281329 semapv:UnspecifiedMatching MONDO:0004321 endometrial mixed adenocarcinoma skos:exactMatch DOID:7664 endometrial mixed adenocarcinoma semapv:UnspecifiedMatching MONDO:0004321 endometrial mixed adenocarcinoma skos:exactMatch NCIT:C40153 Endometrial Mixed Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004321 endometrial mixed adenocarcinoma skos:exactMatch UMLS:C1516856 semapv:UnspecifiedMatching MONDO:0004322 non-gestational ovarian choriocarcinoma skos:exactMatch DOID:7665 non-gestational ovarian choriocarcinoma semapv:UnspecifiedMatching MONDO:0004322 non-gestational ovarian choriocarcinoma skos:exactMatch NCIT:C39991 Non-Gestational Ovarian Choriocarcinoma semapv:UnspecifiedMatching MONDO:0004322 non-gestational ovarian choriocarcinoma skos:exactMatch UMLS:C1518355 semapv:UnspecifiedMatching MONDO:0004323 muscular atrophy skos:exactMatch DOID:767 muscular atrophy semapv:UnspecifiedMatching MONDO:0004323 muscular atrophy skos:exactMatch SCTID:88092000 semapv:UnspecifiedMatching MONDO:0004323 muscular atrophy skos:exactMatch mesh:D009133 semapv:UnspecifiedMatching MONDO:0004324 testicular fibroma skos:exactMatch DOID:7675 testicular fibroma semapv:UnspecifiedMatching MONDO:0004324 testicular fibroma skos:exactMatch NCIT:C39951 Testicular Fibroma semapv:UnspecifiedMatching MONDO:0004324 testicular fibroma skos:exactMatch UMLS:C1515282 semapv:UnspecifiedMatching MONDO:0004325 testicular thecoma skos:exactMatch DOID:7676 testicular thecoma semapv:UnspecifiedMatching MONDO:0004325 testicular thecoma skos:exactMatch NCIT:C39952 Testicular Thecoma semapv:UnspecifiedMatching MONDO:0004325 testicular thecoma skos:exactMatch UMLS:C1515299 semapv:UnspecifiedMatching MONDO:0004326 sphenoid sinus inverted papilloma skos:exactMatch DOID:7678 sphenoid sinus inverted papilloma semapv:UnspecifiedMatching MONDO:0004326 sphenoid sinus inverted papilloma skos:exactMatch NCIT:C6841 Sphenoid Sinus Inverted Papilloma semapv:UnspecifiedMatching MONDO:0004326 sphenoid sinus inverted papilloma skos:exactMatch UMLS:C1336037 semapv:UnspecifiedMatching MONDO:0004327 sphenoid sinus Schneiderian papilloma skos:exactMatch DOID:7679 sphenoid sinus Schneiderian papilloma semapv:UnspecifiedMatching MONDO:0004327 sphenoid sinus Schneiderian papilloma skos:exactMatch NCIT:C6838 Sphenoid Sinus Papilloma semapv:UnspecifiedMatching MONDO:0004327 sphenoid sinus Schneiderian papilloma skos:exactMatch UMLS:C1336038 semapv:UnspecifiedMatching MONDO:0004328 maxillary sinus adenocarcinoma skos:exactMatch DOID:7684 maxillary sinus adenocarcinoma semapv:UnspecifiedMatching MONDO:0004328 maxillary sinus adenocarcinoma skos:exactMatch NCIT:C6240 Maxillary Sinus Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004328 maxillary sinus adenocarcinoma skos:exactMatch SCTID:707339009 semapv:UnspecifiedMatching MONDO:0004328 maxillary sinus adenocarcinoma skos:exactMatch UMLS:C1334642 semapv:UnspecifiedMatching MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia skos:exactMatch DOID:7685 pancreatic non-invasive intraductal papillary-mucinous carcinoma semapv:UnspecifiedMatching MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia skos:exactMatch NCIT:C41251 Pancreatic Intraductal Papillary-Mucinous Neoplasm, High Grade semapv:UnspecifiedMatching MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia skos:exactMatch UMLS:C1518873 semapv:UnspecifiedMatching MONDO:0004330 leptomeningeal sarcoma skos:exactMatch DOID:7689 leptomeninges sarcoma semapv:UnspecifiedMatching MONDO:0004330 leptomeningeal sarcoma skos:exactMatch NCIT:C8312 Leptomeningeal Sarcoma semapv:UnspecifiedMatching MONDO:0004330 leptomeningeal sarcoma skos:exactMatch UMLS:C1384416 semapv:UnspecifiedMatching MONDO:0004331 bladder urachal adenocarcinoma skos:exactMatch DOID:7694 bladder urachal adenocarcinoma semapv:UnspecifiedMatching MONDO:0004331 bladder urachal adenocarcinoma skos:exactMatch NCIT:C39843 Urachal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004331 bladder urachal adenocarcinoma skos:exactMatch UMLS:C1511204 semapv:UnspecifiedMatching MONDO:0004331 bladder urachal adenocarcinoma skos:exactMatch mesh:C536474 semapv:UnspecifiedMatching MONDO:0004332 lung hilum cancer skos:exactMatch DOID:7696 lung hilum cancer semapv:UnspecifiedMatching MONDO:0004332 lung hilum cancer skos:exactMatch NCIT:C4566 Malignant Lung Hilum Neoplasm semapv:UnspecifiedMatching MONDO:0004332 lung hilum cancer skos:exactMatch SCTID:93827000 semapv:UnspecifiedMatching MONDO:0004332 lung hilum cancer skos:exactMatch UMLS:C0346601 semapv:UnspecifiedMatching MONDO:0004332 lung hilum cancer skos:exactMatch UMLS:C2607931 semapv:UnspecifiedMatching MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor skos:exactMatch DOID:7697 pancreatic ACTH hormone producing tumor semapv:UnspecifiedMatching MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor skos:exactMatch NCIT:C27466 Pancreatic ACTH-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor skos:exactMatch UMLS:C1335300 semapv:UnspecifiedMatching MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:exactMatch DOID:7698 non-functioning pancreatic endocrine tumor semapv:UnspecifiedMatching MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:exactMatch NCIT:C45837 Non-Functioning Pancreatic Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas semapv:UnspecifiedMatching MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:exactMatch UMLS:C1334977 semapv:UnspecifiedMatching MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:exactMatch mesh:C536126 semapv:UnspecifiedMatching MONDO:0004335 digestive system disorder skos:exactMatch DOID:77 gastrointestinal system disease semapv:UnspecifiedMatching MONDO:0004335 digestive system disorder skos:exactMatch ICD10CM:K00-K95 Diseases of the digestive system (K00-K95) semapv:UnspecifiedMatching MONDO:0004335 digestive system disorder skos:exactMatch NCIT:C2990 Digestive System Disorder semapv:UnspecifiedMatching MONDO:0004335 digestive system disorder skos:exactMatch SCTID:53619000 semapv:UnspecifiedMatching MONDO:0004335 digestive system disorder skos:exactMatch mesh:D005767 semapv:UnspecifiedMatching MONDO:0004336 rectal signet ring cell adenocarcinoma skos:exactMatch DOID:7707 rectum signet ring adenocarcinoma semapv:UnspecifiedMatching MONDO:0004336 rectal signet ring cell adenocarcinoma skos:exactMatch NCIT:C9168 Rectal Signet Ring Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004336 rectal signet ring cell adenocarcinoma skos:exactMatch UMLS:C0279654 semapv:UnspecifiedMatching MONDO:0004337 perianal skin Paget disease skos:exactMatch DOID:7708 perianal skin Paget's disease semapv:UnspecifiedMatching MONDO:0004337 perianal skin Paget disease skos:exactMatch NCIT:C7476 Anal Margin Paget Disease semapv:UnspecifiedMatching MONDO:0004337 perianal skin Paget disease skos:exactMatch UMLS:C1332270 semapv:UnspecifiedMatching MONDO:0004338 retinal cell cancer skos:exactMatch DOID:771 retinal cell cancer semapv:UnspecifiedMatching MONDO:0004339 tuberculum sellae meningioma skos:exactMatch DOID:7713 tuberculum sellae meningioma semapv:UnspecifiedMatching MONDO:0004339 tuberculum sellae meningioma skos:exactMatch NCIT:C5284 Tuberculum Sellae Meningioma semapv:UnspecifiedMatching MONDO:0004339 tuberculum sellae meningioma skos:exactMatch UMLS:C1336829 semapv:UnspecifiedMatching MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas skos:exactMatch DOID:7716 mixed ductal-endocrine carcinoma semapv:UnspecifiedMatching MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas skos:exactMatch NCIT:C6879 Pancreatic Mixed Ductal-Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas skos:exactMatch UMLS:C1301048 semapv:UnspecifiedMatching MONDO:0004341 colloid carcinoma of the pancreas skos:exactMatch DOID:7717 colloid carcinoma of the pancreas semapv:UnspecifiedMatching MONDO:0004341 colloid carcinoma of the pancreas skos:exactMatch NCIT:C37214 Pancreatic Colloid Carcinoma semapv:UnspecifiedMatching MONDO:0004341 colloid carcinoma of the pancreas skos:exactMatch UMLS:C1333081 semapv:UnspecifiedMatching MONDO:0004343 pancreatic acinar cell cystadenocarcinoma skos:exactMatch DOID:7729 acinar cell cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0004343 pancreatic acinar cell cystadenocarcinoma skos:exactMatch NCIT:C5727 Pancreatic Acinar Cell Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0004343 pancreatic acinar cell cystadenocarcinoma skos:exactMatch UMLS:C1266087 semapv:UnspecifiedMatching MONDO:0004344 childhood malignant hemangiopericytoma skos:exactMatch DOID:7731 childhood malignant hemangiopericytoma semapv:UnspecifiedMatching MONDO:0004344 childhood malignant hemangiopericytoma skos:exactMatch NCIT:C8090 Malignant Childhood Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0004344 childhood malignant hemangiopericytoma skos:exactMatch UMLS:C0279983 semapv:UnspecifiedMatching MONDO:0004345 childhood malignant schwannoma skos:exactMatch DOID:7732 childhood malignant schwannoma semapv:UnspecifiedMatching MONDO:0004345 childhood malignant schwannoma skos:exactMatch NCIT:C8094 Childhood Malignant Peripheral Nerve Sheath Tumor semapv:UnspecifiedMatching MONDO:0004345 childhood malignant schwannoma skos:exactMatch UMLS:C0279987 semapv:UnspecifiedMatching MONDO:0004346 signet ring cell intrahepatic cholangiocarcinoma skos:exactMatch DOID:7733 signet ring cell intrahepatic cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0004346 signet ring cell intrahepatic cholangiocarcinoma skos:exactMatch NCIT:C41619 Signet Ring Cell Intrahepatic Cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0004346 signet ring cell intrahepatic cholangiocarcinoma skos:exactMatch UMLS:C1519321 semapv:UnspecifiedMatching MONDO:0004348 retinal telangiectasia skos:exactMatch DOID:7736 retinal telangiectasia semapv:UnspecifiedMatching MONDO:0004348 retinal telangiectasia skos:exactMatch SCTID:84884003 semapv:UnspecifiedMatching MONDO:0004348 retinal telangiectasia skos:exactMatch UMLS:C0154835 semapv:UnspecifiedMatching MONDO:0004349 retina lymphoma skos:exactMatch DOID:774 retina lymphoma semapv:UnspecifiedMatching MONDO:0004349 retina lymphoma skos:exactMatch NCIT:C4365 Primary Retinal Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0004349 retina lymphoma skos:exactMatch SCTID:232075002 semapv:UnspecifiedMatching MONDO:0004349 retina lymphoma skos:exactMatch UMLS:C0339556 semapv:UnspecifiedMatching MONDO:0004350 pediatric extraocular retinoblastoma skos:exactMatch DOID:7747 childhood extraocular retinoblastoma semapv:UnspecifiedMatching MONDO:0004350 pediatric extraocular retinoblastoma skos:exactMatch NCIT:C9048 Childhood Extraocular Retinoblastoma semapv:UnspecifiedMatching MONDO:0004350 pediatric extraocular retinoblastoma skos:exactMatch UMLS:C1321870 semapv:UnspecifiedMatching MONDO:0004351 intraocular lymphoma skos:exactMatch DOID:775 intraocular lymphoma semapv:UnspecifiedMatching MONDO:0004351 intraocular lymphoma skos:exactMatch NCIT:C9184 Primary Intraocular Non-Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0004351 intraocular lymphoma skos:exactMatch Orphanet:279904 Primary intraocular lymphoma semapv:UnspecifiedMatching MONDO:0004351 intraocular lymphoma skos:exactMatch SCTID:420788006 semapv:UnspecifiedMatching MONDO:0004351 intraocular lymphoma skos:exactMatch mesh:D064090 semapv:UnspecifiedMatching MONDO:0004352 adult brain ependymoma skos:exactMatch DOID:7750 adult brain ependymoma semapv:UnspecifiedMatching MONDO:0004352 adult brain ependymoma skos:exactMatch NCIT:C9372 Adult Brain Ependymoma semapv:UnspecifiedMatching MONDO:0004352 adult brain ependymoma skos:exactMatch UMLS:C1332186 semapv:UnspecifiedMatching MONDO:0004353 extrahepatic biliary papillomatosis skos:exactMatch DOID:7752 extrahepatic biliary papillomatosis semapv:UnspecifiedMatching MONDO:0004353 extrahepatic biliary papillomatosis skos:exactMatch NCIT:C7124 Extrahepatic Bile Duct Intraductal Papillary Neoplasm semapv:UnspecifiedMatching MONDO:0004353 extrahepatic biliary papillomatosis skos:exactMatch UMLS:C1333511 semapv:UnspecifiedMatching MONDO:0004354 neonatal leukemia skos:exactMatch DOID:7756 neonatal leukemia semapv:UnspecifiedMatching MONDO:0004354 neonatal leukemia skos:exactMatch NCIT:C3845 Neonatal Leukemia semapv:UnspecifiedMatching MONDO:0004354 neonatal leukemia skos:exactMatch UMLS:C0235813 semapv:UnspecifiedMatching MONDO:0004355 childhood leukemia skos:exactMatch DOID:7757 childhood leukemia semapv:UnspecifiedMatching MONDO:0004355 childhood leukemia skos:exactMatch NCIT:C4989 Childhood Leukemia semapv:UnspecifiedMatching MONDO:0004355 childhood leukemia skos:exactMatch UMLS:C1332977 semapv:UnspecifiedMatching MONDO:0004356 childhood multilocular cystic kidney neoplasm skos:exactMatch DOID:7762 childhood multilocular cystic kidney neoplasm semapv:UnspecifiedMatching MONDO:0004356 childhood multilocular cystic kidney neoplasm skos:exactMatch NCIT:C6566 Childhood Multilocular Cystic Renal Neoplasm semapv:UnspecifiedMatching MONDO:0004356 childhood multilocular cystic kidney neoplasm skos:exactMatch UMLS:C1332983 semapv:UnspecifiedMatching MONDO:0004357 carcinoma of supraglottis skos:exactMatch DOID:7763 carcinoma of supraglottis semapv:UnspecifiedMatching MONDO:0004357 carcinoma of supraglottis skos:exactMatch NCIT:C5973 Supraglottic Carcinoma semapv:UnspecifiedMatching MONDO:0004357 carcinoma of supraglottis skos:exactMatch SCTID:372105009 semapv:UnspecifiedMatching MONDO:0004357 carcinoma of supraglottis skos:exactMatch UMLS:C1299240 semapv:UnspecifiedMatching MONDO:0004358 subglottis carcinoma skos:exactMatch DOID:7764 subglottis carcinoma semapv:UnspecifiedMatching MONDO:0004358 subglottis carcinoma skos:exactMatch NCIT:C5972 Subglottic Carcinoma semapv:UnspecifiedMatching MONDO:0004358 subglottis carcinoma skos:exactMatch SCTID:372104008 semapv:UnspecifiedMatching MONDO:0004358 subglottis carcinoma skos:exactMatch UMLS:C1299239 semapv:UnspecifiedMatching MONDO:0004359 delusional disorder skos:exactMatch DOID:778 delusional disorder semapv:UnspecifiedMatching MONDO:0004359 delusional disorder skos:exactMatch ICD10WHO:F22.0 Delusional disorder semapv:UnspecifiedMatching MONDO:0004359 delusional disorder skos:exactMatch NCIT:C94379 Delusional Disorder semapv:UnspecifiedMatching MONDO:0004359 delusional disorder skos:exactMatch SCTID:48500005 semapv:UnspecifiedMatching MONDO:0004360 breast extraskeletal osteosarcoma skos:exactMatch DOID:7787 breast osteosarcoma semapv:UnspecifiedMatching MONDO:0004360 breast extraskeletal osteosarcoma skos:exactMatch NCIT:C5189 Breast Extraskeletal Osteosarcoma semapv:UnspecifiedMatching MONDO:0004360 breast extraskeletal osteosarcoma skos:exactMatch UMLS:C1335149 semapv:UnspecifiedMatching MONDO:0004361 adult spinal cord ependymoma skos:exactMatch DOID:7788 adult spinal cord ependymoma semapv:UnspecifiedMatching MONDO:0004361 adult spinal cord ependymoma skos:exactMatch NCIT:C27399 Adult Spinal Cord Ependymoma semapv:UnspecifiedMatching MONDO:0004361 adult spinal cord ependymoma skos:exactMatch UMLS:C1332215 semapv:UnspecifiedMatching MONDO:0004363 adult spinal cord glioblastoma skos:exactMatch DOID:7806 adult spinal cord glioblastoma multiforme semapv:UnspecifiedMatching MONDO:0004363 adult spinal cord glioblastoma skos:exactMatch NCIT:C27183 Adult Spinal Cord Glioblastoma semapv:UnspecifiedMatching MONDO:0004363 adult spinal cord glioblastoma skos:exactMatch SCTID:276829003 semapv:UnspecifiedMatching MONDO:0004363 adult spinal cord glioblastoma skos:exactMatch UMLS:C0559185 semapv:UnspecifiedMatching MONDO:0004364 choroid necrotic melanoma skos:exactMatch DOID:7807 choroid necrotic melanoma semapv:UnspecifiedMatching MONDO:0004364 choroid necrotic melanoma skos:exactMatch NCIT:C6865 Choroid Necrotic Melanoma semapv:UnspecifiedMatching MONDO:0004364 choroid necrotic melanoma skos:exactMatch UMLS:C1333026 semapv:UnspecifiedMatching MONDO:0004365 necrotic uveal melanoma skos:exactMatch DOID:7808 necrotic uveal melanoma semapv:UnspecifiedMatching MONDO:0004365 necrotic uveal melanoma skos:exactMatch NCIT:C7990 Uveal Necrotic Melanoma semapv:UnspecifiedMatching MONDO:0004366 mixed astrocytoma-ependymoma-oligodendroglioma skos:exactMatch DOID:7817 mixed astrocytoma-ependymoma-oligodendroglioma semapv:UnspecifiedMatching MONDO:0004366 mixed astrocytoma-ependymoma-oligodendroglioma skos:exactMatch NCIT:C8272 Mixed Astrocytoma-Ependymoma-Oligodendroglioma semapv:UnspecifiedMatching MONDO:0004366 mixed astrocytoma-ependymoma-oligodendroglioma skos:exactMatch UMLS:C0280792 semapv:UnspecifiedMatching MONDO:0004367 petroclival meningioma skos:exactMatch DOID:7818 petroclival meningioma semapv:UnspecifiedMatching MONDO:0004367 petroclival meningioma skos:exactMatch NCIT:C5278 Petroclival Meningioma semapv:UnspecifiedMatching MONDO:0004367 petroclival meningioma skos:exactMatch UMLS:C1335395 semapv:UnspecifiedMatching MONDO:0004368 sphenoorbital meningioma skos:exactMatch DOID:7819 sphenoorbital meningioma semapv:UnspecifiedMatching MONDO:0004368 sphenoorbital meningioma skos:exactMatch NCIT:C5285 Sphenoorbital Meningioma semapv:UnspecifiedMatching MONDO:0004368 sphenoorbital meningioma skos:exactMatch UMLS:C1336040 semapv:UnspecifiedMatching MONDO:0004369 renal infectious disease skos:exactMatch DOID:782 renal infectious disease semapv:UnspecifiedMatching MONDO:0004370 sphenocavernous meningioma skos:exactMatch DOID:7820 sphenocavernous meningioma semapv:UnspecifiedMatching MONDO:0004370 sphenocavernous meningioma skos:exactMatch NCIT:C5313 Sphenocavernous Meningioma semapv:UnspecifiedMatching MONDO:0004370 sphenocavernous meningioma skos:exactMatch UMLS:C1336036 semapv:UnspecifiedMatching MONDO:0004371 spinal multifocal clear cell meningioma skos:exactMatch DOID:7824 spinal multifocal clear cell meningioma semapv:UnspecifiedMatching MONDO:0004371 spinal multifocal clear cell meningioma skos:exactMatch NCIT:C5287 Spinal Multifocal Clear Cell Meningioma semapv:UnspecifiedMatching MONDO:0004371 spinal multifocal clear cell meningioma skos:exactMatch UMLS:C1336051 semapv:UnspecifiedMatching MONDO:0004372 chronic toxic polyneuropathy skos:exactMatch DOID:7825 chronic toxic polyneuropathy semapv:UnspecifiedMatching MONDO:0004372 chronic toxic polyneuropathy skos:exactMatch NCIT:C35603 Chronic Toxic Polyneuropathy semapv:UnspecifiedMatching MONDO:0004372 chronic toxic polyneuropathy skos:exactMatch UMLS:C1333048 semapv:UnspecifiedMatching MONDO:0004373 adult papillary meningioma skos:exactMatch DOID:7826 adult papillary meningioma semapv:UnspecifiedMatching MONDO:0004373 adult papillary meningioma skos:exactMatch NCIT:C8293 Adult Papillary Meningioma semapv:UnspecifiedMatching MONDO:0004373 adult papillary meningioma skos:exactMatch UMLS:C0281334 semapv:UnspecifiedMatching MONDO:0004374 adult extraskeletal osteosarcoma skos:exactMatch DOID:7827 adult extraosseous osteosarcoma semapv:UnspecifiedMatching MONDO:0004374 adult extraskeletal osteosarcoma skos:exactMatch NCIT:C7925 Adult Extraskeletal Osteosarcoma semapv:UnspecifiedMatching MONDO:0004374 adult extraskeletal osteosarcoma skos:exactMatch UMLS:C0278985 semapv:UnspecifiedMatching MONDO:0004375 end stage renal failure skos:exactMatch DOID:783 end stage renal disease semapv:UnspecifiedMatching MONDO:0004375 end stage renal failure skos:exactMatch ICD10CM:N18.5 Chronic kidney disease, stage 5 semapv:UnspecifiedMatching MONDO:0004375 end stage renal failure skos:exactMatch NCIT:C9439 Chronic Kidney Disease, Stage 5 semapv:UnspecifiedMatching MONDO:0004375 end stage renal failure skos:exactMatch SCTID:46177005 semapv:UnspecifiedMatching MONDO:0004376 infiltrating nipple syringomatous adenoma skos:exactMatch DOID:7839 infiltrating nipple syringomatous adenoma semapv:UnspecifiedMatching MONDO:0004376 infiltrating nipple syringomatous adenoma skos:exactMatch NCIT:C40363 Nipple Syringomatous Tumor semapv:UnspecifiedMatching MONDO:0004376 infiltrating nipple syringomatous adenoma skos:exactMatch UMLS:C3839745 semapv:UnspecifiedMatching MONDO:0004377 pancreatic non-functioning delta cell tumor skos:exactMatch DOID:7840 pancreatic non-functioning delta cell tumor semapv:UnspecifiedMatching MONDO:0004377 pancreatic non-functioning delta cell tumor skos:exactMatch NCIT:C28333 Non-Functioning Pancreatic Delta Cell Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0004377 pancreatic non-functioning delta cell tumor skos:exactMatch UMLS:C1335311 semapv:UnspecifiedMatching MONDO:0004378 pediatric cerebral ependymoblastoma skos:exactMatch DOID:7841 childhood embryonal tumor with multilayered rosettes, C19MC-altered semapv:UnspecifiedMatching MONDO:0004378 pediatric cerebral ependymoblastoma skos:exactMatch NCIT:C6957 Childhood Cerebral Embryonal Tumor with Multilayered Rosettes, C19MC-Altered semapv:UnspecifiedMatching MONDO:0004378 pediatric cerebral ependymoblastoma skos:exactMatch UMLS:C1332962 semapv:UnspecifiedMatching MONDO:0004379 female breast carcinoma skos:exactMatch DOID:0050671 female breast cancer semapv:UnspecifiedMatching MONDO:0004379 female breast carcinoma skos:exactMatch DOID:7843 female breast carcinoma semapv:UnspecifiedMatching MONDO:0004379 female breast carcinoma skos:exactMatch NCIT:C2918 Female Breast Carcinoma semapv:UnspecifiedMatching MONDO:0004379 female breast carcinoma skos:exactMatch SCTID:372064008 semapv:UnspecifiedMatching MONDO:0004379 female breast carcinoma skos:exactMatch SCTID:447782002 semapv:UnspecifiedMatching MONDO:0004379 female breast carcinoma skos:exactMatch UMLS:C0007104 semapv:UnspecifiedMatching MONDO:0004380 dendritic cell sarcoma skos:exactMatch DOID:7849 dendritic cell sarcoma semapv:UnspecifiedMatching MONDO:0004380 dendritic cell sarcoma skos:exactMatch NCIT:C27260 Dendritic Cell Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0004380 dendritic cell sarcoma skos:exactMatch SCTID:446643000 semapv:UnspecifiedMatching MONDO:0004381 pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia skos:exactMatch DOID:7851 pancreatic intraductal papillary-mucinous adenoma semapv:UnspecifiedMatching MONDO:0004381 pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia skos:exactMatch NCIT:C41249 Pancreatic Intraductal Papillary-Mucinous Neoplasm, Low Grade semapv:UnspecifiedMatching MONDO:0004381 pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia skos:exactMatch SCTID:473418001 semapv:UnspecifiedMatching MONDO:0004381 pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia skos:exactMatch UMLS:C1518868 semapv:UnspecifiedMatching MONDO:0004382 laryngeal disorder skos:exactMatch DOID:786 laryngeal disease semapv:UnspecifiedMatching MONDO:0004382 laryngeal disorder skos:exactMatch NCIT:C26810 Laryngeal Disorder semapv:UnspecifiedMatching MONDO:0004382 laryngeal disorder skos:exactMatch SCTID:60600009 semapv:UnspecifiedMatching MONDO:0004382 laryngeal disorder skos:exactMatch UMLS:C0023051 semapv:UnspecifiedMatching MONDO:0004382 laryngeal disorder skos:exactMatch mesh:D007818 semapv:UnspecifiedMatching MONDO:0004383 adult central nervous system germinoma skos:exactMatch DOID:7867 adult central nervous system germinoma semapv:UnspecifiedMatching MONDO:0004383 adult central nervous system germinoma skos:exactMatch NCIT:C5792 Adult Central Nervous System Germinoma semapv:UnspecifiedMatching MONDO:0004383 adult central nervous system germinoma skos:exactMatch UMLS:C1370504 semapv:UnspecifiedMatching MONDO:0004384 maxillary sinus inverted papilloma skos:exactMatch DOID:7868 maxillary sinus inverted papilloma semapv:UnspecifiedMatching MONDO:0004384 maxillary sinus inverted papilloma skos:exactMatch NCIT:C6840 Maxillary Sinus Inverted Papilloma semapv:UnspecifiedMatching MONDO:0004384 maxillary sinus inverted papilloma skos:exactMatch UMLS:C1334645 semapv:UnspecifiedMatching MONDO:0004385 adult xanthogranuloma skos:exactMatch DOID:7875 adult xanthogranuloma semapv:UnspecifiedMatching MONDO:0004385 adult xanthogranuloma skos:exactMatch NCIT:C27514 Adult Xanthogranuloma semapv:UnspecifiedMatching MONDO:0004385 adult xanthogranuloma skos:exactMatch UMLS:C1332220 semapv:UnspecifiedMatching MONDO:0004386 uterine corpus atypical polypoid adenomyoma skos:exactMatch DOID:7878 uterine corpus atypical polypoid adenomyoma semapv:UnspecifiedMatching MONDO:0004386 uterine corpus atypical polypoid adenomyoma skos:exactMatch NCIT:C40235 Uterine Corpus Atypical Polypoid Adenomyoma semapv:UnspecifiedMatching MONDO:0004386 uterine corpus atypical polypoid adenomyoma skos:exactMatch UMLS:C1519844 semapv:UnspecifiedMatching MONDO:0004387 luteoma of pregnancy skos:exactMatch DOID:7880 luteoma semapv:UnspecifiedMatching MONDO:0004387 luteoma of pregnancy skos:exactMatch NCIT:C40445 Leuteoma of Pregnancy semapv:UnspecifiedMatching MONDO:0004387 luteoma of pregnancy skos:exactMatch UMLS:C0024167 semapv:UnspecifiedMatching MONDO:0004387 luteoma of pregnancy skos:exactMatch UMLS:C1517842 semapv:UnspecifiedMatching MONDO:0004387 luteoma of pregnancy skos:exactMatch mesh:D018311 semapv:UnspecifiedMatching MONDO:0004389 mite infestation skos:exactMatch DOID:7894 mite infestation semapv:UnspecifiedMatching MONDO:0004389 mite infestation skos:exactMatch SCTID:240885009 semapv:UnspecifiedMatching MONDO:0004389 mite infestation skos:exactMatch UMLS:C0026229 semapv:UnspecifiedMatching MONDO:0004389 mite infestation skos:exactMatch mesh:D008924 semapv:UnspecifiedMatching MONDO:0004390 ocular hypotension skos:exactMatch DOID:790 ocular hypotension semapv:UnspecifiedMatching MONDO:0004390 ocular hypotension skos:exactMatch SCTID:19721008 semapv:UnspecifiedMatching MONDO:0004390 ocular hypotension skos:exactMatch UMLS:C0028841 semapv:UnspecifiedMatching MONDO:0004390 ocular hypotension skos:exactMatch mesh:D015814 semapv:UnspecifiedMatching MONDO:0004391 obsolete adult extraosseous chondrosarcoma skos:exactMatch DOID:7902 adult extraskeletal myxoid chondrosarcoma semapv:UnspecifiedMatching MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma skos:exactMatch DOID:7903 intracranial chondrosarcoma semapv:UnspecifiedMatching MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma skos:exactMatch NCIT:C5462 Brain Extraskeletal Myxoid Chondrosarcoma semapv:UnspecifiedMatching MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma skos:exactMatch UMLS:C1334238 semapv:UnspecifiedMatching MONDO:0004393 mixed astrocytoma-ependymoma skos:exactMatch DOID:7907 mixed astrocytoma-ependymoma semapv:UnspecifiedMatching MONDO:0004393 mixed astrocytoma-ependymoma skos:exactMatch NCIT:C8271 Mixed Astrocytoma-Ependymoma semapv:UnspecifiedMatching MONDO:0004393 mixed astrocytoma-ependymoma skos:exactMatch UMLS:C0280791 semapv:UnspecifiedMatching MONDO:0004394 maxillary sinus squamous cell carcinoma skos:exactMatch DOID:7910 maxillary sinus squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004394 maxillary sinus squamous cell carcinoma skos:exactMatch NCIT:C6064 Maxillary Sinus Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004394 maxillary sinus squamous cell carcinoma skos:exactMatch SCTID:707354003 semapv:UnspecifiedMatching MONDO:0004394 maxillary sinus squamous cell carcinoma skos:exactMatch UMLS:C1334647 semapv:UnspecifiedMatching MONDO:0004396 cervical spinal canal and spinal cord meningioma skos:exactMatch DOID:7915 cervical spinal canal and spinal cord meningioma semapv:UnspecifiedMatching MONDO:0004396 cervical spinal canal and spinal cord meningioma skos:exactMatch NCIT:C5296 Cervical Intraspinal Meningioma semapv:UnspecifiedMatching MONDO:0004396 cervical spinal canal and spinal cord meningioma skos:exactMatch UMLS:C1332916 semapv:UnspecifiedMatching MONDO:0004397 benign mediastinal psammomatous neurilemmoma skos:exactMatch DOID:7921 mediastinal psammomatous neurilemmoma semapv:UnspecifiedMatching MONDO:0004397 benign mediastinal psammomatous neurilemmoma skos:exactMatch NCIT:C6636 Mediastinal Psammomatous Schwannoma semapv:UnspecifiedMatching MONDO:0004397 benign mediastinal psammomatous neurilemmoma skos:exactMatch UMLS:C1332513 semapv:UnspecifiedMatching MONDO:0004398 mediastinal schwannoma skos:exactMatch DOID:6175 mediastinal neurilemmoma semapv:UnspecifiedMatching MONDO:0004398 mediastinal schwannoma skos:exactMatch DOID:7922 obsolete benign mediastinal neurilemmoma semapv:UnspecifiedMatching MONDO:0004398 mediastinal schwannoma skos:exactMatch NCIT:C6643 Mediastinal Schwannoma semapv:UnspecifiedMatching MONDO:0004398 mediastinal schwannoma skos:exactMatch UMLS:C1334679 semapv:UnspecifiedMatching MONDO:0004400 malignant type A thymoma skos:exactMatch DOID:7927 malignant type A thymoma semapv:UnspecifiedMatching MONDO:0004400 malignant type A thymoma skos:exactMatch NCIT:C7999 Malignant Type A Thymoma semapv:UnspecifiedMatching MONDO:0004400 malignant type A thymoma skos:exactMatch UMLS:C0279707 semapv:UnspecifiedMatching MONDO:0004401 testis refractory cancer skos:exactMatch DOID:7928 testis refractory cancer semapv:UnspecifiedMatching MONDO:0004401 testis refractory cancer skos:exactMatch NCIT:C9077 Refractory Malignant Testicular Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0004401 testis refractory cancer skos:exactMatch UMLS:C1377904 semapv:UnspecifiedMatching MONDO:0004402 testicular yolk sac tumor, glandular-alveolar pattern skos:exactMatch DOID:7930 glandular-alveolar pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004402 testicular yolk sac tumor, glandular-alveolar pattern skos:exactMatch NCIT:C39926 Testicular Yolk Sac Tumor, Glandular-Alveolar Pattern semapv:UnspecifiedMatching MONDO:0004402 testicular yolk sac tumor, glandular-alveolar pattern skos:exactMatch UMLS:C1515305 semapv:UnspecifiedMatching MONDO:0004403 childhood precursor T-lymphoblastic lymphoma/leukemia skos:exactMatch NCIT:C5640 Childhood T Lymphoblastic Leukemia/Lymphoma semapv:UnspecifiedMatching MONDO:0004403 childhood precursor T-lymphoblastic lymphoma/leukemia skos:exactMatch UMLS:C1332997 semapv:UnspecifiedMatching MONDO:0004404 refractory precursor T-lymphoblastic lymphoma/leukemia skos:exactMatch DOID:7936 refractory T lymphoblastic leukemia/lymphoma semapv:UnspecifiedMatching MONDO:0004404 refractory precursor T-lymphoblastic lymphoma/leukemia skos:exactMatch NCIT:C8696 Refractory T Lymphoblastic Leukemia/Lymphoma semapv:UnspecifiedMatching MONDO:0004404 refractory precursor T-lymphoblastic lymphoma/leukemia skos:exactMatch UMLS:C0854859 semapv:UnspecifiedMatching MONDO:0004405 Barrett adenocarcinoma skos:exactMatch DOID:7941 Barrett's adenocarcinoma semapv:UnspecifiedMatching MONDO:0004405 Barrett adenocarcinoma skos:exactMatch NCIT:C7027 Barrett Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004405 Barrett adenocarcinoma skos:exactMatch SCTID:721617001 semapv:UnspecifiedMatching MONDO:0004405 Barrett adenocarcinoma skos:exactMatch UMLS:C1332460 semapv:UnspecifiedMatching MONDO:0004406 adult central nervous system mixed germ cell tumor skos:exactMatch DOID:7945 adult central nervous system mixed germ cell tumor semapv:UnspecifiedMatching MONDO:0004406 adult central nervous system mixed germ cell tumor skos:exactMatch NCIT:C27402 Adult Central Nervous System Mixed Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0004406 adult central nervous system mixed germ cell tumor skos:exactMatch UMLS:C1332195 semapv:UnspecifiedMatching MONDO:0004407 stroma-dominant and stroma-poor composite ganglioneuroblastoma skos:exactMatch DOID:7949 stroma-dominant and stroma-poor composite ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0004407 stroma-dominant and stroma-poor composite ganglioneuroblastoma skos:exactMatch NCIT:C42060 Composite Ganglioneuroblastoma, Stroma-Dominant and Stroma-Poor semapv:UnspecifiedMatching MONDO:0004407 stroma-dominant and stroma-poor composite ganglioneuroblastoma skos:exactMatch UMLS:C1516761 semapv:UnspecifiedMatching MONDO:0004408 schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma skos:exactMatch DOID:7951 Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0004408 schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma skos:exactMatch NCIT:C42059 Composite Ganglioneuroblastoma, Schwannian Stroma-Rich and Stroma-Poor semapv:UnspecifiedMatching MONDO:0004408 schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma skos:exactMatch UMLS:C1516760 semapv:UnspecifiedMatching MONDO:0004409 nipple duct carcinoma skos:exactMatch DOID:7953 nipple duct carcinoma semapv:UnspecifiedMatching MONDO:0004409 nipple duct carcinoma skos:exactMatch NCIT:C27234 Nipple Duct Carcinoma semapv:UnspecifiedMatching MONDO:0004409 nipple duct carcinoma skos:exactMatch UMLS:C1334967 semapv:UnspecifiedMatching MONDO:0004410 sarcomatoid penile squamous cell carcinoma skos:exactMatch DOID:7958 sarcomatoid penile squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004410 sarcomatoid penile squamous cell carcinoma skos:exactMatch NCIT:C6984 Penile Sarcomatoid Carcinoma semapv:UnspecifiedMatching MONDO:0004410 sarcomatoid penile squamous cell carcinoma skos:exactMatch UMLS:C1335923 semapv:UnspecifiedMatching MONDO:0004411 duodenal gastrin-producing neuroendocrine tumor skos:exactMatch DOID:7959 duodenal gastrinoma semapv:UnspecifiedMatching MONDO:0004411 duodenal gastrin-producing neuroendocrine tumor skos:exactMatch NCIT:C5731 Duodenal Gastrin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0004411 duodenal gastrin-producing neuroendocrine tumor skos:exactMatch UMLS:C1333321 semapv:UnspecifiedMatching MONDO:0004412 malignant spiradenoma skos:exactMatch DOID:7960 malignant spiradenoma semapv:UnspecifiedMatching MONDO:0004412 malignant spiradenoma skos:exactMatch NCIT:C5117 Spiradenocarcinoma semapv:UnspecifiedMatching MONDO:0004412 malignant spiradenoma skos:exactMatch SCTID:403942003 semapv:UnspecifiedMatching MONDO:0004412 malignant spiradenoma skos:exactMatch UMLS:C1266063 semapv:UnspecifiedMatching MONDO:0004413 cervical non-keratinizing squamous cell carcinoma skos:exactMatch DOID:7961 cervical non-keratinizing squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004413 cervical non-keratinizing squamous cell carcinoma skos:exactMatch NCIT:C40188 Cervical Non-Keratinizing Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004413 cervical non-keratinizing squamous cell carcinoma skos:exactMatch UMLS:C1518366 semapv:UnspecifiedMatching MONDO:0004414 tamoxifen-related endometrial lesion skos:exactMatch DOID:7962 tamoxifen-related endometrial lesion semapv:UnspecifiedMatching MONDO:0004414 tamoxifen-related endometrial lesion skos:exactMatch NCIT:C40159 Tamoxifen-Related Endometrial Disorder semapv:UnspecifiedMatching MONDO:0004414 tamoxifen-related endometrial lesion skos:exactMatch UMLS:C1515212 semapv:UnspecifiedMatching MONDO:0004415 lipid-cell variant infiltrating bladder urothelial carcinoma skos:exactMatch DOID:7967 lipid-cell variant infiltrating bladder urothelial carcinoma semapv:UnspecifiedMatching MONDO:0004415 lipid-cell variant infiltrating bladder urothelial carcinoma skos:exactMatch NCIT:C39828 Invasive Bladder Lipid-Rich Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004415 lipid-cell variant infiltrating bladder urothelial carcinoma skos:exactMatch UMLS:C1512738 semapv:UnspecifiedMatching MONDO:0004416 plasmacytoid variant infiltrating bladder urothelial carcinoma skos:exactMatch DOID:7968 plasmacytoid variant infiltrating bladder urothelial carcinoma semapv:UnspecifiedMatching MONDO:0004416 plasmacytoid variant infiltrating bladder urothelial carcinoma skos:exactMatch NCIT:C39823 Invasive Bladder Plasmacytoid Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004416 plasmacytoid variant infiltrating bladder urothelial carcinoma skos:exactMatch UMLS:C1512742 semapv:UnspecifiedMatching MONDO:0004417 nested variant infiltrating bladder urothelial carcinoma skos:exactMatch DOID:7969 nested variant infiltrating bladder urothelial carcinoma semapv:UnspecifiedMatching MONDO:0004417 nested variant infiltrating bladder urothelial carcinoma skos:exactMatch NCIT:C39819 Invasive Bladder Nested Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004417 nested variant infiltrating bladder urothelial carcinoma skos:exactMatch UMLS:C1512741 semapv:UnspecifiedMatching MONDO:0004418 microcystic variant infiltrating bladder urothelial carcinoma skos:exactMatch DOID:7971 microcystic variant infiltrating bladder urothelial carcinoma semapv:UnspecifiedMatching MONDO:0004418 microcystic variant infiltrating bladder urothelial carcinoma skos:exactMatch NCIT:C39820 Invasive Bladder Microcystic Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0004418 microcystic variant infiltrating bladder urothelial carcinoma skos:exactMatch UMLS:C1512740 semapv:UnspecifiedMatching MONDO:0004419 lymphoma-like variant infiltrating bladder urothelial carcinoma skos:exactMatch DOID:7972 lymphoma-like variant infiltrating bladder urothelial carcinoma semapv:UnspecifiedMatching MONDO:0004419 lymphoma-like variant infiltrating bladder urothelial carcinoma skos:exactMatch NCIT:C39822 Infiltrating Bladder Urothelial Carcinoma, Lymphoma-Like Variant semapv:UnspecifiedMatching MONDO:0004419 lymphoma-like variant infiltrating bladder urothelial carcinoma skos:exactMatch UMLS:C1512739 semapv:UnspecifiedMatching MONDO:0004420 breast malignant eccrine spiradenoma skos:exactMatch DOID:7983 breast malignant eccrine spiradenoma semapv:UnspecifiedMatching MONDO:0004420 breast malignant eccrine spiradenoma skos:exactMatch NCIT:C5180 Malignant Breast Spiradenoma semapv:UnspecifiedMatching MONDO:0004420 breast malignant eccrine spiradenoma skos:exactMatch UMLS:C1334565 semapv:UnspecifiedMatching MONDO:0004421 sclerosing breast papilloma skos:exactMatch DOID:7984 sclerosing breast papilloma semapv:UnspecifiedMatching MONDO:0004421 sclerosing breast papilloma skos:exactMatch NCIT:C27944 Breast Sclerosing Papilloma semapv:UnspecifiedMatching MONDO:0004421 sclerosing breast papilloma skos:exactMatch UMLS:C1335932 semapv:UnspecifiedMatching MONDO:0004422 cerebral falx meningioma skos:exactMatch DOID:7986 cerebral falx meningioma semapv:UnspecifiedMatching MONDO:0004422 cerebral falx meningioma skos:exactMatch NCIT:C5267 Falx Cerebri Meningioma semapv:UnspecifiedMatching MONDO:0004422 cerebral falx meningioma skos:exactMatch UMLS:C1333597 semapv:UnspecifiedMatching MONDO:0004423 central nervous system extraskeletal osteosarcoma skos:exactMatch DOID:7994 central nervous system osteosarcoma semapv:UnspecifiedMatching MONDO:0004423 central nervous system extraskeletal osteosarcoma skos:exactMatch NCIT:C7002 Central Nervous System Extraskeletal Osteosarcoma semapv:UnspecifiedMatching MONDO:0004423 central nervous system extraskeletal osteosarcoma skos:exactMatch UMLS:C1335150 semapv:UnspecifiedMatching MONDO:0004425 hyperthyroidism skos:exactMatch DOID:7998 hyperthyroidism semapv:UnspecifiedMatching MONDO:0004425 hyperthyroidism skos:exactMatch NCIT:C3123 Hyperthyroidism semapv:UnspecifiedMatching MONDO:0004425 hyperthyroidism skos:exactMatch SCTID:34486009 semapv:UnspecifiedMatching MONDO:0004425 hyperthyroidism skos:exactMatch mesh:D006980 semapv:UnspecifiedMatching MONDO:0004426 frontal convexity meningioma skos:exactMatch DOID:8000 frontal convexity meningioma semapv:UnspecifiedMatching MONDO:0004426 frontal convexity meningioma skos:exactMatch NCIT:C5292 Frontal Convexity Meningioma semapv:UnspecifiedMatching MONDO:0004426 frontal convexity meningioma skos:exactMatch UMLS:C1333643 semapv:UnspecifiedMatching MONDO:0004427 supraglottis neoplasm skos:exactMatch DOID:8002 supraglottis neoplasm semapv:UnspecifiedMatching MONDO:0004427 supraglottis neoplasm skos:exactMatch NCIT:C6793 Supraglottis Neoplasm semapv:UnspecifiedMatching MONDO:0004427 supraglottis neoplasm skos:exactMatch SCTID:126697005 semapv:UnspecifiedMatching MONDO:0004427 supraglottis neoplasm skos:exactMatch UMLS:C0345726 semapv:UnspecifiedMatching MONDO:0004428 alveoli adenoma skos:exactMatch DOID:8003 alveoli adenoma semapv:UnspecifiedMatching MONDO:0004428 alveoli adenoma skos:exactMatch NCIT:C4140 Alveolar Adenoma semapv:UnspecifiedMatching MONDO:0004428 alveoli adenoma skos:exactMatch UMLS:C0334303 semapv:UnspecifiedMatching MONDO:0004429 skin meningioma skos:exactMatch DOID:8006 skin meningioma semapv:UnspecifiedMatching MONDO:0004429 skin meningioma skos:exactMatch UMLS:C1335481 semapv:UnspecifiedMatching MONDO:0004430 penis mixed squamous cell carcinoma skos:exactMatch DOID:8009 penis mixed squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004430 penis mixed squamous cell carcinoma skos:exactMatch NCIT:C39959 Penile Mixed Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004430 penis mixed squamous cell carcinoma skos:exactMatch UMLS:C1513369 semapv:UnspecifiedMatching MONDO:0004431 hemarthrosis skos:exactMatch DOID:801 hemarthrosis semapv:UnspecifiedMatching MONDO:0004431 hemarthrosis skos:exactMatch SCTID:81808003 semapv:UnspecifiedMatching MONDO:0004431 hemarthrosis skos:exactMatch UMLS:C0018924 semapv:UnspecifiedMatching MONDO:0004431 hemarthrosis skos:exactMatch mesh:D006395 semapv:UnspecifiedMatching MONDO:0004432 mature pericardial teratoma skos:exactMatch DOID:8012 benign pericardial teratoma semapv:UnspecifiedMatching MONDO:0004432 mature pericardial teratoma skos:exactMatch NCIT:C6744 Pericardial Mature Teratoma semapv:UnspecifiedMatching MONDO:0004432 mature pericardial teratoma skos:exactMatch UMLS:C1334638 semapv:UnspecifiedMatching MONDO:0004433 papillary carcinoma of the penis skos:exactMatch DOID:8013 penis papillary carcinoma semapv:UnspecifiedMatching MONDO:0004433 papillary carcinoma of the penis skos:exactMatch NCIT:C6983 Penile Papillary Carcinoma semapv:UnspecifiedMatching MONDO:0004433 papillary carcinoma of the penis skos:exactMatch UMLS:C1335322 semapv:UnspecifiedMatching MONDO:0004435 liver fibrosarcoma skos:exactMatch DOID:8022 liver fibrosarcoma semapv:UnspecifiedMatching MONDO:0004435 liver fibrosarcoma skos:exactMatch NCIT:C5832 Liver Fibrosarcoma semapv:UnspecifiedMatching MONDO:0004435 liver fibrosarcoma skos:exactMatch UMLS:C1333966 semapv:UnspecifiedMatching MONDO:0004436 ovarian myxoid liposarcoma skos:exactMatch DOID:8023 myxoid liposarcoma of the ovary semapv:UnspecifiedMatching MONDO:0004436 ovarian myxoid liposarcoma skos:exactMatch NCIT:C5235 Ovarian Myxoid Liposarcoma semapv:UnspecifiedMatching MONDO:0004436 ovarian myxoid liposarcoma skos:exactMatch UMLS:C1335170 semapv:UnspecifiedMatching MONDO:0004438 sporadic breast cancer skos:exactMatch DOID:8029 sporadic breast cancer semapv:UnspecifiedMatching MONDO:0004438 sporadic breast cancer skos:exactMatch NCIT:C7566 Sporadic Breast Carcinoma semapv:UnspecifiedMatching MONDO:0004438 sporadic breast cancer skos:exactMatch UMLS:C1336076 semapv:UnspecifiedMatching MONDO:0004439 periocular meningioma skos:exactMatch DOID:8030 periocular meningioma semapv:UnspecifiedMatching MONDO:0004439 periocular meningioma skos:exactMatch NCIT:C6777 Periocular Meningioma semapv:UnspecifiedMatching MONDO:0004439 periocular meningioma skos:exactMatch UMLS:C1335383 semapv:UnspecifiedMatching MONDO:0004440 pineal region meningioma skos:exactMatch DOID:8031 pineal region meningioma semapv:UnspecifiedMatching MONDO:0004440 pineal region meningioma skos:exactMatch NCIT:C6756 Pineal Region Meningioma semapv:UnspecifiedMatching MONDO:0004440 pineal region meningioma skos:exactMatch UMLS:C1335418 semapv:UnspecifiedMatching MONDO:0004441 childhood ovarian embryonal carcinoma skos:exactMatch DOID:8036 childhood ovarian embryonal carcinoma semapv:UnspecifiedMatching MONDO:0004441 childhood ovarian embryonal carcinoma skos:exactMatch NCIT:C6546 Childhood Ovarian Embryonal Carcinoma semapv:UnspecifiedMatching MONDO:0004441 childhood ovarian embryonal carcinoma skos:exactMatch UMLS:C1332989 semapv:UnspecifiedMatching MONDO:0004442 testis polyembryoma skos:exactMatch DOID:8042 testis polyembryoma semapv:UnspecifiedMatching MONDO:0004442 testis polyembryoma skos:exactMatch NCIT:C40962 Testicular Polyembryoma semapv:UnspecifiedMatching MONDO:0004442 testis polyembryoma skos:exactMatch UMLS:C1514200 semapv:UnspecifiedMatching MONDO:0004443 chest wall parachordoma skos:exactMatch DOID:8043 chest wall parachordoma semapv:UnspecifiedMatching MONDO:0004443 chest wall parachordoma skos:exactMatch NCIT:C6720 Chest Wall Parachordoma semapv:UnspecifiedMatching MONDO:0004443 chest wall parachordoma skos:exactMatch UMLS:C1332934 semapv:UnspecifiedMatching MONDO:0004444 bladder tubulo-cystic clear cell adenocarcinoma skos:exactMatch DOID:8050 bladder tubulo-cystic clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0004444 bladder tubulo-cystic clear cell adenocarcinoma skos:exactMatch NCIT:C39847 Bladder Tubulo-Cystic Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004444 bladder tubulo-cystic clear cell adenocarcinoma skos:exactMatch UMLS:C1511203 semapv:UnspecifiedMatching MONDO:0004445 bladder papillary clear cell adenocarcinoma skos:exactMatch DOID:8051 bladder papillary clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0004445 bladder papillary clear cell adenocarcinoma skos:exactMatch NCIT:C39848 Bladder Papillary Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004445 bladder papillary clear cell adenocarcinoma skos:exactMatch UMLS:C1511196 semapv:UnspecifiedMatching MONDO:0004446 olfactory groove meningioma skos:exactMatch DOID:8057 olfactory groove meningioma semapv:UnspecifiedMatching MONDO:0004446 olfactory groove meningioma skos:exactMatch NCIT:C6771 Olfactory Groove Meningioma semapv:UnspecifiedMatching MONDO:0004446 olfactory groove meningioma skos:exactMatch UMLS:C1335107 semapv:UnspecifiedMatching MONDO:0004447 pituitary stalk meningioma skos:exactMatch DOID:8058 pituitary stalk meningioma semapv:UnspecifiedMatching MONDO:0004447 pituitary stalk meningioma skos:exactMatch NCIT:C5311 Pituitary Stalk Meningioma semapv:UnspecifiedMatching MONDO:0004447 pituitary stalk meningioma skos:exactMatch UMLS:C1335422 semapv:UnspecifiedMatching MONDO:0004448 frontal sinus inverted papilloma skos:exactMatch DOID:8060 frontal sinus inverted papilloma semapv:UnspecifiedMatching MONDO:0004448 frontal sinus inverted papilloma skos:exactMatch NCIT:C6842 Frontal Sinus Inverted Papilloma semapv:UnspecifiedMatching MONDO:0004448 frontal sinus inverted papilloma skos:exactMatch UMLS:C1333644 semapv:UnspecifiedMatching MONDO:0004449 intraductal breast myoepitheliosis skos:exactMatch DOID:8068 intraductal breast myoepitheliosis semapv:UnspecifiedMatching MONDO:0004449 intraductal breast myoepitheliosis skos:exactMatch NCIT:C40387 Breast Intraductal Myoepitheliosis semapv:UnspecifiedMatching MONDO:0004449 intraductal breast myoepitheliosis skos:exactMatch UMLS:C1512935 semapv:UnspecifiedMatching MONDO:0004450 carotid artery occlusion skos:exactMatch DOID:807 carotid artery occlusion semapv:UnspecifiedMatching MONDO:0004450 carotid artery occlusion skos:exactMatch SCTID:266254007 semapv:UnspecifiedMatching MONDO:0004450 carotid artery occlusion skos:exactMatch UMLS:C0265101 semapv:UnspecifiedMatching MONDO:0004451 sarcomatous intrahepatic cholangiocarcinoma skos:exactMatch DOID:8072 sarcomatous intrahepatic cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0004451 sarcomatous intrahepatic cholangiocarcinoma skos:exactMatch NCIT:C41620 Sarcomatoid Intrahepatic Cholangiocarcinoma semapv:UnspecifiedMatching MONDO:0004451 sarcomatous intrahepatic cholangiocarcinoma skos:exactMatch UMLS:C1519184 semapv:UnspecifiedMatching MONDO:0004452 childhood central nervous system germinoma skos:exactMatch DOID:8078 childhood central nervous system germinoma semapv:UnspecifiedMatching MONDO:0004452 childhood central nervous system germinoma skos:exactMatch NCIT:C27406 Childhood Central Nervous System Germinoma semapv:UnspecifiedMatching MONDO:0004452 childhood central nervous system germinoma skos:exactMatch UMLS:C1332953 semapv:UnspecifiedMatching MONDO:0004453 testicular yolk sac tumor, myxomatous pattern skos:exactMatch DOID:8081 myxomatous pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004453 testicular yolk sac tumor, myxomatous pattern skos:exactMatch NCIT:C39929 Testicular Yolk Sac Tumor, Myxomatous Pattern semapv:UnspecifiedMatching MONDO:0004453 testicular yolk sac tumor, myxomatous pattern skos:exactMatch UMLS:C1515309 semapv:UnspecifiedMatching MONDO:0004454 cellular congenital mesoblastic nephroma skos:exactMatch DOID:8082 cellular congenital mesoblastic nephroma semapv:UnspecifiedMatching MONDO:0004454 cellular congenital mesoblastic nephroma skos:exactMatch NCIT:C39815 Cellular Congenital Mesoblastic Nephroma semapv:UnspecifiedMatching MONDO:0004454 cellular congenital mesoblastic nephroma skos:exactMatch UMLS:C1320471 semapv:UnspecifiedMatching MONDO:0004455 classic congenital mesoblastic nephroma skos:exactMatch DOID:8083 classic congenital mesoblastic nephroma semapv:UnspecifiedMatching MONDO:0004455 classic congenital mesoblastic nephroma skos:exactMatch NCIT:C39814 Classic Congenital Mesoblastic Nephroma semapv:UnspecifiedMatching MONDO:0004455 classic congenital mesoblastic nephroma skos:exactMatch UMLS:C1516475 semapv:UnspecifiedMatching MONDO:0004456 cocaine abuse skos:exactMatch DOID:809 cocaine abuse semapv:UnspecifiedMatching MONDO:0004456 cocaine abuse skos:exactMatch SCTID:78267003 semapv:UnspecifiedMatching MONDO:0004457 maxillary sinus Schneiderian papilloma skos:exactMatch DOID:8093 maxillary sinus Schneiderian papilloma semapv:UnspecifiedMatching MONDO:0004457 maxillary sinus Schneiderian papilloma skos:exactMatch NCIT:C6839 Maxillary Sinus Papilloma semapv:UnspecifiedMatching MONDO:0004457 maxillary sinus Schneiderian papilloma skos:exactMatch UMLS:C1334646 semapv:UnspecifiedMatching MONDO:0004458 bladder mixed adenocarcinoma skos:exactMatch DOID:8096 bladder mixed adenocarcinoma semapv:UnspecifiedMatching MONDO:0004458 bladder mixed adenocarcinoma skos:exactMatch NCIT:C39839 Bladder Mixed Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004458 bladder mixed adenocarcinoma skos:exactMatch UMLS:C1511192 semapv:UnspecifiedMatching MONDO:0004459 bladder hepatoid adenocarcinoma skos:exactMatch DOID:8097 bladder hepatoid adenocarcinoma semapv:UnspecifiedMatching MONDO:0004459 bladder hepatoid adenocarcinoma skos:exactMatch NCIT:C39838 Bladder Hepatoid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004459 bladder hepatoid adenocarcinoma skos:exactMatch UMLS:C1511189 semapv:UnspecifiedMatching MONDO:0004460 thyroid gland fetal adenoma skos:exactMatch DOID:8102 fetal adenoma semapv:UnspecifiedMatching MONDO:0004460 thyroid gland fetal adenoma skos:exactMatch NCIT:C4160 Thyroid Gland Microfollicular Adenoma semapv:UnspecifiedMatching MONDO:0004460 thyroid gland fetal adenoma skos:exactMatch UMLS:C0334328 semapv:UnspecifiedMatching MONDO:0004461 vaginal tubulovillous adenoma skos:exactMatch DOID:8104 vaginal tubulovillous adenoma semapv:UnspecifiedMatching MONDO:0004461 vaginal tubulovillous adenoma skos:exactMatch NCIT:C40258 Vaginal Tubulovillous Adenoma semapv:UnspecifiedMatching MONDO:0004461 vaginal tubulovillous adenoma skos:exactMatch UMLS:C1519933 semapv:UnspecifiedMatching MONDO:0004462 extrahepatic bile duct cystadenoma skos:exactMatch DOID:8105 extrahepatic bile duct cystadenoma semapv:UnspecifiedMatching MONDO:0004462 extrahepatic bile duct cystadenoma skos:exactMatch NCIT:C5851 Extrahepatic Bile Duct Mucinous Cystic Neoplasm semapv:UnspecifiedMatching MONDO:0004462 extrahepatic bile duct cystadenoma skos:exactMatch UMLS:C1333504 semapv:UnspecifiedMatching MONDO:0004463 cellular phase chronic idiopathic myelofibrosis skos:exactMatch DOID:8106 cellular phase chronic idiopathic myelofibrosis semapv:UnspecifiedMatching MONDO:0004463 cellular phase chronic idiopathic myelofibrosis skos:exactMatch NCIT:C41237 Early/Prefibrotic Primary Myelofibrosis semapv:UnspecifiedMatching MONDO:0004463 cellular phase chronic idiopathic myelofibrosis skos:exactMatch UMLS:C1516553 semapv:UnspecifiedMatching MONDO:0004464 nephrogenic adenoma of the urethra skos:exactMatch DOID:8109 nephrogenic adenoma of the urethra semapv:UnspecifiedMatching MONDO:0004464 nephrogenic adenoma of the urethra skos:exactMatch NCIT:C7416 Urethral Nephrogenic Adenoma semapv:UnspecifiedMatching MONDO:0004464 nephrogenic adenoma of the urethra skos:exactMatch UMLS:C1336889 semapv:UnspecifiedMatching MONDO:0004465 periampullary adenocarcinoma skos:exactMatch DOID:8110 periampullary adenocarcinoma semapv:UnspecifiedMatching MONDO:0004465 periampullary adenocarcinoma skos:exactMatch NCIT:C27322 Periampullary Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004465 periampullary adenocarcinoma skos:exactMatch UMLS:C1335377 semapv:UnspecifiedMatching MONDO:0004466 neuronitis skos:exactMatch DOID:8117 neuronitis semapv:UnspecifiedMatching MONDO:0004466 neuronitis skos:exactMatch NCIT:C34847 Neuronitis semapv:UnspecifiedMatching MONDO:0004466 neuronitis skos:exactMatch UMLS:C0027881 semapv:UnspecifiedMatching MONDO:0004467 mature gastric teratoma skos:exactMatch DOID:8118 mature gastric teratoma semapv:UnspecifiedMatching MONDO:0004467 mature gastric teratoma skos:exactMatch NCIT:C5260 Mature Gastric Teratoma semapv:UnspecifiedMatching MONDO:0004467 mature gastric teratoma skos:exactMatch UMLS:C1334635 semapv:UnspecifiedMatching MONDO:0004468 anal canal Paget disease skos:exactMatch DOID:8119 anal canal Paget's disease semapv:UnspecifiedMatching MONDO:0004468 anal canal Paget disease skos:exactMatch NCIT:C7477 Anal Canal Paget Disease semapv:UnspecifiedMatching MONDO:0004468 anal canal Paget disease skos:exactMatch SCTID:236811000119101 semapv:UnspecifiedMatching MONDO:0004468 anal canal Paget disease skos:exactMatch UMLS:C1332261 semapv:UnspecifiedMatching MONDO:0004469 pseudovascular skin squamous cell carcinoma skos:exactMatch DOID:8122 pseudovascular skin squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004469 pseudovascular skin squamous cell carcinoma skos:exactMatch NCIT:C27542 Skin Pseudovascular Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004469 pseudovascular skin squamous cell carcinoma skos:exactMatch UMLS:C1335974 semapv:UnspecifiedMatching MONDO:0004471 bacterial arthritis skos:exactMatch DOID:813 septic arthritis semapv:UnspecifiedMatching MONDO:0004471 bacterial arthritis skos:exactMatch NCIT:C26699 Bacterial Arthritis semapv:UnspecifiedMatching MONDO:0004471 bacterial arthritis skos:exactMatch SCTID:48245008 semapv:UnspecifiedMatching MONDO:0004471 bacterial arthritis skos:exactMatch mesh:D001170 semapv:UnspecifiedMatching MONDO:0004472 breast columnar cell mucinous carcinoma skos:exactMatch DOID:8130 breast columnar cell mucinous carcinoma semapv:UnspecifiedMatching MONDO:0004472 breast columnar cell mucinous carcinoma skos:exactMatch NCIT:C40355 Breast Columnar Cell Mucinous Carcinoma semapv:UnspecifiedMatching MONDO:0004472 breast columnar cell mucinous carcinoma skos:exactMatch UMLS:C1511305 semapv:UnspecifiedMatching MONDO:0004473 epiglottis cancer skos:exactMatch DOID:8133 epiglottis cancer semapv:UnspecifiedMatching MONDO:0004473 epiglottis cancer skos:exactMatch ICD10CM:C10.1 Malignant neoplasm of anterior surface of epiglottis semapv:UnspecifiedMatching MONDO:0004473 epiglottis cancer skos:exactMatch NCIT:C35697 Epiglottic Carcinoma semapv:UnspecifiedMatching MONDO:0004473 epiglottis cancer skos:exactMatch NCIT:C4836 Malignant Epiglottis Neoplasm semapv:UnspecifiedMatching MONDO:0004473 epiglottis cancer skos:exactMatch SCTID:187681002 semapv:UnspecifiedMatching MONDO:0004474 gallbladder lymphoma skos:exactMatch DOID:8135 gallbladder lymphoma semapv:UnspecifiedMatching MONDO:0004474 gallbladder lymphoma skos:exactMatch NCIT:C5734 Gallbladder Lymphoma semapv:UnspecifiedMatching MONDO:0004474 gallbladder lymphoma skos:exactMatch UMLS:C1333748 semapv:UnspecifiedMatching MONDO:0004475 thymus clear cell carcinoma skos:exactMatch DOID:8137 thymus clear cell carcinoma semapv:UnspecifiedMatching MONDO:0004475 thymus clear cell carcinoma skos:exactMatch NCIT:C6462 Thymic Clear Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004475 thymus clear cell carcinoma skos:exactMatch UMLS:C1333069 semapv:UnspecifiedMatching MONDO:0004477 adrenal gland ganglioneuroblastoma skos:exactMatch DOID:8140 adrenal gland ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0004477 adrenal gland ganglioneuroblastoma skos:exactMatch NCIT:C7646 Adrenal Gland Ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0004477 adrenal gland ganglioneuroblastoma skos:exactMatch UMLS:C1332176 semapv:UnspecifiedMatching MONDO:0004478 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma skos:exactMatch DOID:8144 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma semapv:UnspecifiedMatching MONDO:0004478 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma skos:exactMatch NCIT:C37204 Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma with Unmutated Immunoglobulin Heavy Chain Variable-Region Gene semapv:UnspecifiedMatching MONDO:0004478 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma skos:exactMatch UMLS:C1333038 semapv:UnspecifiedMatching MONDO:0004479 malignant childhood germ cell neoplasm skos:exactMatch DOID:8149 malignant childhood germ cell neoplasm semapv:UnspecifiedMatching MONDO:0004479 malignant childhood germ cell neoplasm skos:exactMatch NCIT:C6541 Childhood Malignant Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0004479 malignant childhood germ cell neoplasm skos:exactMatch UMLS:C1334574 semapv:UnspecifiedMatching MONDO:0004481 pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma skos:exactMatch DOID:8150 pancreatic invasive intraductal papillary-mucinous carcinoma semapv:UnspecifiedMatching MONDO:0004481 pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma skos:exactMatch NCIT:C5726 Pancreatic Intraductal Papillary-Mucinous Neoplasm with an Associated Invasive Carcinoma semapv:UnspecifiedMatching MONDO:0004481 pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma skos:exactMatch UMLS:C1518871 semapv:UnspecifiedMatching MONDO:0004482 fibroosseous pseudotumor of the digits skos:exactMatch DOID:8153 fibroosseous pseudotumor of digits semapv:UnspecifiedMatching MONDO:0004482 fibroosseous pseudotumor of the digits skos:exactMatch NCIT:C6573 Fibroosseous Pseudotumor of Digits semapv:UnspecifiedMatching MONDO:0004482 fibroosseous pseudotumor of the digits skos:exactMatch SCTID:403991009 semapv:UnspecifiedMatching MONDO:0004482 fibroosseous pseudotumor of the digits skos:exactMatch UMLS:C1333612 semapv:UnspecifiedMatching MONDO:0004483 thyroid gland oncocytic adenoma skos:exactMatch DOID:8162 thyroid Hurthle cell adenoma semapv:UnspecifiedMatching MONDO:0004483 thyroid gland oncocytic adenoma skos:exactMatch NCIT:C6042 Thyroid Gland Oncocytic Adenoma semapv:UnspecifiedMatching MONDO:0004483 thyroid gland oncocytic adenoma skos:exactMatch UMLS:C1336750 semapv:UnspecifiedMatching MONDO:0004484 gallbladder melanoma skos:exactMatch DOID:8167 gallbladder melanoma semapv:UnspecifiedMatching MONDO:0004484 gallbladder melanoma skos:exactMatch NCIT:C5735 Gallbladder Melanoma semapv:UnspecifiedMatching MONDO:0004484 gallbladder melanoma skos:exactMatch UMLS:C1333749 semapv:UnspecifiedMatching MONDO:0004485 interstitial myocarditis skos:exactMatch DOID:817 interstitial myocarditis semapv:UnspecifiedMatching MONDO:0004485 interstitial myocarditis skos:exactMatch NCIT:C35786 Interstitial Myocarditis semapv:UnspecifiedMatching MONDO:0004485 interstitial myocarditis skos:exactMatch SCTID:37925008 semapv:UnspecifiedMatching MONDO:0004485 interstitial myocarditis skos:exactMatch UMLS:C0027060 semapv:UnspecifiedMatching MONDO:0004486 endocervical type cervical adenomyoma skos:exactMatch DOID:8177 endocervical type cervical adenomyoma semapv:UnspecifiedMatching MONDO:0004486 endocervical type cervical adenomyoma skos:exactMatch NCIT:C40232 Cervical Adenomyoma, Endocervical-Type semapv:UnspecifiedMatching MONDO:0004486 endocervical type cervical adenomyoma skos:exactMatch UMLS:C1516405 semapv:UnspecifiedMatching MONDO:0004487 endometrial type cervical adenomyoma skos:exactMatch DOID:8178 endometrial type cervical adenomyoma semapv:UnspecifiedMatching MONDO:0004487 endometrial type cervical adenomyoma skos:exactMatch NCIT:C40233 Cervical Adenomyoma, Mesonephric-Type semapv:UnspecifiedMatching MONDO:0004488 cervical atypical polypoid adenomyoma skos:exactMatch DOID:8179 cervical atypical polypoid adenomyoma semapv:UnspecifiedMatching MONDO:0004488 cervical atypical polypoid adenomyoma skos:exactMatch NCIT:C40234 Cervical Atypical Polypoid Adenomyoma semapv:UnspecifiedMatching MONDO:0004488 cervical atypical polypoid adenomyoma skos:exactMatch UMLS:C1516409 semapv:UnspecifiedMatching MONDO:0004489 fallopian tube gestational choriocarcinoma skos:exactMatch DOID:8186 fallopian tube gestational choriocarcinoma semapv:UnspecifiedMatching MONDO:0004489 fallopian tube gestational choriocarcinoma skos:exactMatch NCIT:C6278 Fallopian Tube Gestational Choriocarcinoma semapv:UnspecifiedMatching MONDO:0004489 fallopian tube gestational choriocarcinoma skos:exactMatch UMLS:C1333593 semapv:UnspecifiedMatching MONDO:0004490 gestational uterine corpus choriocarcinoma skos:exactMatch DOID:8187 gestational uterine corpus choriocarcinoma semapv:UnspecifiedMatching MONDO:0004491 uterine corpus choriocarcinoma skos:exactMatch DOID:8188 uterine corpus choriocarcinoma semapv:UnspecifiedMatching MONDO:0004491 uterine corpus choriocarcinoma skos:exactMatch NCIT:C27246 Uterine Corpus Choriocarcinoma semapv:UnspecifiedMatching MONDO:0004491 uterine corpus choriocarcinoma skos:exactMatch UMLS:C1336904 semapv:UnspecifiedMatching MONDO:0004492 mediastinitis skos:exactMatch DOID:819 mediastinitis semapv:UnspecifiedMatching MONDO:0004492 mediastinitis skos:exactMatch ICD10CM:J98.51 Mediastinitis semapv:UnspecifiedMatching MONDO:0004492 mediastinitis skos:exactMatch NCIT:C26827 Mediastinitis semapv:UnspecifiedMatching MONDO:0004492 mediastinitis skos:exactMatch SCTID:47597000 semapv:UnspecifiedMatching MONDO:0004492 mediastinitis skos:exactMatch UMLS:C0025064 semapv:UnspecifiedMatching MONDO:0004492 mediastinitis skos:exactMatch mesh:D008480 semapv:UnspecifiedMatching MONDO:0004493 testicular yolk sac tumor, papillary pattern skos:exactMatch DOID:8193 papillary pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004493 testicular yolk sac tumor, papillary pattern skos:exactMatch NCIT:C39928 Testicular Yolk Sac Tumor, Papillary Pattern semapv:UnspecifiedMatching MONDO:0004493 testicular yolk sac tumor, papillary pattern skos:exactMatch UMLS:C1515310 semapv:UnspecifiedMatching MONDO:0004494 testicular yolk sac tumor, hepatoid pattern skos:exactMatch DOID:8195 hepatoid pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004494 testicular yolk sac tumor, hepatoid pattern skos:exactMatch NCIT:C39931 Testicular Yolk Sac Tumor, Hepatoid Pattern semapv:UnspecifiedMatching MONDO:0004494 testicular yolk sac tumor, hepatoid pattern skos:exactMatch UMLS:C1515306 semapv:UnspecifiedMatching MONDO:0004495 myotonic cataract skos:exactMatch DOID:82 myotonic cataract semapv:UnspecifiedMatching MONDO:0004495 myotonic cataract skos:exactMatch NCIT:C34833 Myotonic Cataract semapv:UnspecifiedMatching MONDO:0004495 myotonic cataract skos:exactMatch SCTID:64741003 semapv:UnspecifiedMatching MONDO:0004495 myotonic cataract skos:exactMatch UMLS:C0027128 semapv:UnspecifiedMatching MONDO:0004496 myocarditis skos:exactMatch DOID:820 myocarditis semapv:UnspecifiedMatching MONDO:0004496 myocarditis skos:exactMatch ICD10CM:I40 Acute myocarditis semapv:UnspecifiedMatching MONDO:0004496 myocarditis skos:exactMatch NCIT:C34831 Myocarditis semapv:UnspecifiedMatching MONDO:0004496 myocarditis skos:exactMatch SCTID:50920009 semapv:UnspecifiedMatching MONDO:0004496 myocarditis skos:exactMatch UMLS:C0027059 semapv:UnspecifiedMatching MONDO:0004496 myocarditis skos:exactMatch mesh:D009205 semapv:UnspecifiedMatching MONDO:0004497 tertiary syphilis skos:exactMatch DOID:8200 tertiary syphilis semapv:UnspecifiedMatching MONDO:0004497 tertiary syphilis skos:exactMatch NCIT:C128414 Tertiary Syphilis semapv:UnspecifiedMatching MONDO:0004497 tertiary syphilis skos:exactMatch SCTID:72083004 semapv:UnspecifiedMatching MONDO:0004497 tertiary syphilis skos:exactMatch UMLS:C0153188 semapv:UnspecifiedMatching MONDO:0004497 tertiary syphilis skos:exactMatch mesh:C536774 semapv:UnspecifiedMatching MONDO:0004498 sacral spinal canal and spinal cord meningioma skos:exactMatch DOID:8203 sacral spinal canal and spinal cord meningioma semapv:UnspecifiedMatching MONDO:0004498 sacral spinal canal and spinal cord meningioma skos:exactMatch NCIT:C5299 Sacral Intraspinal Meningioma semapv:UnspecifiedMatching MONDO:0004498 sacral spinal canal and spinal cord meningioma skos:exactMatch UMLS:C1335893 semapv:UnspecifiedMatching MONDO:0004499 lung hilum carcinoma skos:exactMatch DOID:8207 hilar lung carcinoma semapv:UnspecifiedMatching MONDO:0004499 lung hilum carcinoma skos:exactMatch NCIT:C7454 Lung Hilum Carcinoma semapv:UnspecifiedMatching MONDO:0004499 lung hilum carcinoma skos:exactMatch UMLS:C1334445 semapv:UnspecifiedMatching MONDO:0004500 lung superior sulcus carcinoma skos:exactMatch DOID:8208 lung superior sulcus carcinoma semapv:UnspecifiedMatching MONDO:0004500 lung superior sulcus carcinoma skos:exactMatch NCIT:C7779 Superior Sulcus Lung Carcinoma semapv:UnspecifiedMatching MONDO:0004500 lung superior sulcus carcinoma skos:exactMatch UMLS:C1336529 semapv:UnspecifiedMatching MONDO:0004501 fallopian tube cystadenofibroma skos:exactMatch DOID:8211 fallopian tube cystadenofibroma semapv:UnspecifiedMatching MONDO:0004501 fallopian tube cystadenofibroma skos:exactMatch NCIT:C40114 Fallopian Tube Serous Cystadenofibroma semapv:UnspecifiedMatching MONDO:0004501 fallopian tube cystadenofibroma skos:exactMatch UMLS:C1517111 semapv:UnspecifiedMatching MONDO:0004502 parapharyngeal meningioma skos:exactMatch DOID:8216 parapharyngeal meningioma semapv:UnspecifiedMatching MONDO:0004502 parapharyngeal meningioma skos:exactMatch NCIT:C5303 Primary Parapharyngeal Meningioma semapv:UnspecifiedMatching MONDO:0004503 upper clivus meningioma skos:exactMatch DOID:8221 upper clivus meningioma semapv:UnspecifiedMatching MONDO:0004503 upper clivus meningioma skos:exactMatch NCIT:C5290 Upper Clivus Meningioma semapv:UnspecifiedMatching MONDO:0004503 upper clivus meningioma skos:exactMatch UMLS:C1336871 semapv:UnspecifiedMatching MONDO:0004504 penile urethral cancer skos:exactMatch DOID:8223 penile urethral cancer semapv:UnspecifiedMatching MONDO:0004504 penile urethral cancer skos:exactMatch NCIT:C39868 Penile Urethral Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0004504 penile urethral cancer skos:exactMatch UMLS:C1518950 semapv:UnspecifiedMatching MONDO:0004505 central breast papilloma skos:exactMatch DOID:8224 central breast papilloma semapv:UnspecifiedMatching MONDO:0004505 central breast papilloma skos:exactMatch NCIT:C36087 Breast Central Papilloma semapv:UnspecifiedMatching MONDO:0004505 central breast papilloma skos:exactMatch UMLS:C1332896 semapv:UnspecifiedMatching MONDO:0004506 microscopic breast papilloma skos:exactMatch DOID:8225 microscopic breast papilloma semapv:UnspecifiedMatching MONDO:0004506 microscopic breast papilloma skos:exactMatch NCIT:C36088 Breast Peripheral Papilloma semapv:UnspecifiedMatching MONDO:0004506 microscopic breast papilloma skos:exactMatch UMLS:C1335390 semapv:UnspecifiedMatching MONDO:0004507 atypical breast papilloma skos:exactMatch DOID:8227 atypical breast papilloma semapv:UnspecifiedMatching MONDO:0004507 atypical breast papilloma skos:exactMatch NCIT:C36089 Breast Atypical Papilloma semapv:UnspecifiedMatching MONDO:0004507 atypical breast papilloma skos:exactMatch UMLS:C1332346 semapv:UnspecifiedMatching MONDO:0004508 periapical periodontitis skos:exactMatch DOID:823 periapical periodontitis semapv:UnspecifiedMatching MONDO:0004508 periapical periodontitis skos:exactMatch SCTID:39273001 semapv:UnspecifiedMatching MONDO:0004508 periapical periodontitis skos:exactMatch UMLS:C0031030 semapv:UnspecifiedMatching MONDO:0004508 periapical periodontitis skos:exactMatch mesh:D010485 semapv:UnspecifiedMatching MONDO:0004509 intrahepatic biliary papillomatosis skos:exactMatch DOID:8230 intrahepatic biliary papillomatosis semapv:UnspecifiedMatching MONDO:0004509 intrahepatic biliary papillomatosis skos:exactMatch NCIT:C7125 Intrahepatic Bile Duct Intraductal Papillary Neoplasm semapv:UnspecifiedMatching MONDO:0004509 intrahepatic biliary papillomatosis skos:exactMatch UMLS:C1334258 semapv:UnspecifiedMatching MONDO:0004510 inflammatory liposarcoma skos:exactMatch DOID:8233 inflammatory liposarcoma semapv:UnspecifiedMatching MONDO:0004510 inflammatory liposarcoma skos:exactMatch NCIT:C6508 Inflammatory Atypical Lipomatous Tumor/Well Differentiated Liposarcoma semapv:UnspecifiedMatching MONDO:0004510 inflammatory liposarcoma skos:exactMatch UMLS:C1370890 semapv:UnspecifiedMatching MONDO:0004511 lower clivus meningioma skos:exactMatch DOID:8239 lower clivus meningioma semapv:UnspecifiedMatching MONDO:0004511 lower clivus meningioma skos:exactMatch NCIT:C5288 Lower Clivus Meningioma semapv:UnspecifiedMatching MONDO:0004511 lower clivus meningioma skos:exactMatch UMLS:C1334434 semapv:UnspecifiedMatching MONDO:0004512 meningeal melanomatosis skos:exactMatch DOID:8243 meningeal melanomatosis semapv:UnspecifiedMatching MONDO:0004512 meningeal melanomatosis skos:exactMatch NCIT:C6891 Meningeal Melanomatosis semapv:UnspecifiedMatching MONDO:0004512 meningeal melanomatosis skos:exactMatch UMLS:C1266114 semapv:UnspecifiedMatching MONDO:0004513 adult pleomorphic rhabdomyosarcoma skos:exactMatch DOID:8251 adult pleomorphic rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0004513 adult pleomorphic rhabdomyosarcoma skos:exactMatch NCIT:C27369 Adult Pleomorphic Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0004513 adult pleomorphic rhabdomyosarcoma skos:exactMatch UMLS:C1332211 semapv:UnspecifiedMatching MONDO:0004514 chronic rhinitis skos:exactMatch DOID:8252 chronic rhinitis semapv:UnspecifiedMatching MONDO:0004514 chronic rhinitis skos:exactMatch NCIT:C34479 Chronic Rhinitis semapv:UnspecifiedMatching MONDO:0004514 chronic rhinitis skos:exactMatch SCTID:86094006 semapv:UnspecifiedMatching MONDO:0004514 chronic rhinitis skos:exactMatch UMLS:C0008711 semapv:UnspecifiedMatching MONDO:0004516 bulbomembranous urethral cancer skos:exactMatch DOID:8259 bulbomembranous urethral cancer semapv:UnspecifiedMatching MONDO:0004516 bulbomembranous urethral cancer skos:exactMatch NCIT:C39869 Bulbomembranous Urethral Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0004516 bulbomembranous urethral cancer skos:exactMatch UMLS:C1511339 semapv:UnspecifiedMatching MONDO:0004517 ureter tuberculosis skos:exactMatch DOID:827 ureter tuberculosis semapv:UnspecifiedMatching MONDO:0004517 ureter tuberculosis skos:exactMatch SCTID:81359005 semapv:UnspecifiedMatching MONDO:0004517 ureter tuberculosis skos:exactMatch UMLS:C0152800 semapv:UnspecifiedMatching MONDO:0004518 anterior urethra cancer skos:exactMatch DOID:8272 anterior urethra cancer semapv:UnspecifiedMatching MONDO:0004518 anterior urethra cancer skos:exactMatch NCIT:C7641 Anterior Urethral Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0004518 anterior urethra cancer skos:exactMatch UMLS:C0279930 semapv:UnspecifiedMatching MONDO:0004519 synovial angioma skos:exactMatch DOID:8274 synovial angioma semapv:UnspecifiedMatching MONDO:0004519 synovial angioma skos:exactMatch NCIT:C6525 Synovial Hemangioma semapv:UnspecifiedMatching MONDO:0004519 synovial angioma skos:exactMatch UMLS:C1336546 semapv:UnspecifiedMatching MONDO:0004520 intratubular embryonal carcinoma skos:exactMatch DOID:8275 intratubular embryonal carcinoma semapv:UnspecifiedMatching MONDO:0004520 intratubular embryonal carcinoma skos:exactMatch NCIT:C7325 Intratubular Non-Seminoma semapv:UnspecifiedMatching MONDO:0004520 intratubular embryonal carcinoma skos:exactMatch UMLS:C1336096 semapv:UnspecifiedMatching MONDO:0004521 adult epithelioid sarcoma skos:exactMatch DOID:8282 adult epithelioid sarcoma semapv:UnspecifiedMatching MONDO:0004521 adult epithelioid sarcoma skos:exactMatch NCIT:C7944 Adult Epithelioid Sarcoma semapv:UnspecifiedMatching MONDO:0004521 adult epithelioid sarcoma skos:exactMatch UMLS:C0279545 semapv:UnspecifiedMatching MONDO:0004522 peritonitis skos:exactMatch DOID:8283 peritonitis semapv:UnspecifiedMatching MONDO:0004522 peritonitis skos:exactMatch NCIT:C26849 Peritonitis semapv:UnspecifiedMatching MONDO:0004522 peritonitis skos:exactMatch SCTID:86422009 semapv:UnspecifiedMatching MONDO:0004522 peritonitis skos:exactMatch mesh:D010538 semapv:UnspecifiedMatching MONDO:0004523 clear cell squamous cell skin carcinoma skos:exactMatch DOID:8288 clear cell squamous cell skin carcinoma semapv:UnspecifiedMatching MONDO:0004523 clear cell squamous cell skin carcinoma skos:exactMatch NCIT:C4459 Skin Clear Cell Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004523 clear cell squamous cell skin carcinoma skos:exactMatch SCTID:254652000 semapv:UnspecifiedMatching MONDO:0004523 clear cell squamous cell skin carcinoma skos:exactMatch UMLS:C0345978 semapv:UnspecifiedMatching MONDO:0004524 thyroid gland atypical follicular adenoma skos:exactMatch DOID:8292 atypical follicular adenoma semapv:UnspecifiedMatching MONDO:0004524 thyroid gland atypical follicular adenoma skos:exactMatch NCIT:C27729 Thyroid Gland Well-Differentiated Tumor of Uncertain Malignant Potential semapv:UnspecifiedMatching MONDO:0004524 thyroid gland atypical follicular adenoma skos:exactMatch UMLS:C1266046 semapv:UnspecifiedMatching MONDO:0004525 scabies skos:exactMatch DOID:8295 scabies semapv:UnspecifiedMatching MONDO:0004525 scabies skos:exactMatch ICD10CM:B86 Scabies semapv:UnspecifiedMatching MONDO:0004525 scabies skos:exactMatch NCIT:C34998 Scabies semapv:UnspecifiedMatching MONDO:0004525 scabies skos:exactMatch SCTID:128869009 semapv:UnspecifiedMatching MONDO:0004525 scabies skos:exactMatch UMLS:C0036262 semapv:UnspecifiedMatching MONDO:0004525 scabies skos:exactMatch mesh:D012532 semapv:UnspecifiedMatching MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch DOID:8302 mixed endometrial stromal and smooth muscle tumor semapv:UnspecifiedMatching MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch NCIT:C40178 Mixed Endometrial Stromal and Smooth Muscle Neoplasm semapv:UnspecifiedMatching MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch UMLS:C1513364 semapv:UnspecifiedMatching MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch UMLS:C1519865 semapv:UnspecifiedMatching MONDO:0004527 congenital granular cell tumor skos:exactMatch DOID:8303 congenital granular cell tumor semapv:UnspecifiedMatching MONDO:0004528 lymph node palisaded myofibroblastoma skos:exactMatch DOID:8304 lymph node palisaded myofibroblastoma semapv:UnspecifiedMatching MONDO:0004528 lymph node palisaded myofibroblastoma skos:exactMatch NCIT:C6584 Intranodal Palisaded Myofibroblastoma semapv:UnspecifiedMatching MONDO:0004528 lymph node palisaded myofibroblastoma skos:exactMatch UMLS:C1335295 semapv:UnspecifiedMatching MONDO:0004529 non-ossifying fibromyxoid tumor skos:exactMatch DOID:8305 nonossifying fibromyxoid tumor semapv:UnspecifiedMatching MONDO:0004529 non-ossifying fibromyxoid tumor skos:exactMatch NCIT:C6583 Nonossifying Fibromyxoid Tumor semapv:UnspecifiedMatching MONDO:0004529 non-ossifying fibromyxoid tumor skos:exactMatch UMLS:C1335063 semapv:UnspecifiedMatching MONDO:0004530 early invasive cervical adenocarcinoma skos:exactMatch DOID:8307 early invasive cervical adenocarcinoma semapv:UnspecifiedMatching MONDO:0004530 early invasive cervical adenocarcinoma skos:exactMatch NCIT:C36096 Early Invasive Cervical Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004530 early invasive cervical adenocarcinoma skos:exactMatch UMLS:C1333369 semapv:UnspecifiedMatching MONDO:0004531 sclerosing adenosis of breast skos:exactMatch DOID:8310 sclerosing adenosis of breast semapv:UnspecifiedMatching MONDO:0004531 sclerosing adenosis of breast skos:exactMatch NCIT:C5205 Breast Sclerosing Adenosis semapv:UnspecifiedMatching MONDO:0004531 sclerosing adenosis of breast skos:exactMatch SCTID:105261000119101 semapv:UnspecifiedMatching MONDO:0004531 sclerosing adenosis of breast skos:exactMatch UMLS:C1335931 semapv:UnspecifiedMatching MONDO:0004532 auditory system cancer skos:exactMatch DOID:833 auditory system cancer semapv:UnspecifiedMatching MONDO:0004533 perineural angioma skos:exactMatch DOID:8331 perineural angioma semapv:UnspecifiedMatching MONDO:0004533 perineural angioma skos:exactMatch NCIT:C6526 Perineural Hemangioma semapv:UnspecifiedMatching MONDO:0004533 perineural angioma skos:exactMatch UMLS:C1335382 semapv:UnspecifiedMatching MONDO:0004534 microglandular adenosis of breast skos:exactMatch DOID:8335 microglandular adenosis of breast semapv:UnspecifiedMatching MONDO:0004534 microglandular adenosis of breast skos:exactMatch NCIT:C5199 Breast Microglandular Adenosis semapv:UnspecifiedMatching MONDO:0004534 microglandular adenosis of breast skos:exactMatch UMLS:C1334753 semapv:UnspecifiedMatching MONDO:0004535 childhood choriocarcinoma of the ovary skos:exactMatch DOID:8336 childhood choriocarcinoma of the ovary semapv:UnspecifiedMatching MONDO:0004535 childhood choriocarcinoma of the ovary skos:exactMatch NCIT:C6549 Childhood Ovarian Choriocarcinoma semapv:UnspecifiedMatching MONDO:0004535 childhood choriocarcinoma of the ovary skos:exactMatch UMLS:C1332987 semapv:UnspecifiedMatching MONDO:0004537 intestinal variant cervical mucinous adenocarcinoma skos:exactMatch DOID:8339 intestinal variant cervical mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0004537 intestinal variant cervical mucinous adenocarcinoma skos:exactMatch NCIT:C40203 Cervical Mucinous Adenocarcinoma, Intestinal-Type semapv:UnspecifiedMatching MONDO:0004537 intestinal variant cervical mucinous adenocarcinoma skos:exactMatch UMLS:C1516422 semapv:UnspecifiedMatching MONDO:0004538 endocervical type cervical mucinous adenocarcinoma skos:exactMatch DOID:8340 endocervical type cervical mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0004539 aortic malignant tumor skos:exactMatch DOID:8352 aortic malignant tumor semapv:UnspecifiedMatching MONDO:0004539 aortic malignant tumor skos:exactMatch NCIT:C5375 Malignant Aortic Neoplasm semapv:UnspecifiedMatching MONDO:0004539 aortic malignant tumor skos:exactMatch UMLS:C1334560 semapv:UnspecifiedMatching MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor skos:exactMatch DOID:8353 epithelioid malignant peripheral nerve sheath tumor semapv:UnspecifiedMatching MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor skos:exactMatch NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor semapv:UnspecifiedMatching MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor skos:exactMatch SCTID:404038007 semapv:UnspecifiedMatching MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor skos:exactMatch UMLS:C1321427 semapv:UnspecifiedMatching MONDO:0004541 pseudoglandular variant testicular seminoma skos:exactMatch DOID:8358 pseudoglandular variant testicular seminoma semapv:UnspecifiedMatching MONDO:0004541 pseudoglandular variant testicular seminoma skos:exactMatch NCIT:C40958 Testicular Seminoma, Pseudoglandular Variant semapv:UnspecifiedMatching MONDO:0004541 pseudoglandular variant testicular seminoma skos:exactMatch UMLS:C1515293 semapv:UnspecifiedMatching MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant skos:exactMatch DOID:8361 glassy cell variant cervical adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant skos:exactMatch NCIT:C40212 Cervical Poorly Differentiated Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant skos:exactMatch Orphanet:213833 Glassy cell carcinoma of the cervix uteri semapv:UnspecifiedMatching MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant skos:exactMatch mesh:C536823 semapv:UnspecifiedMatching MONDO:0004543 enteric pattern testicular yolk sac tumor skos:exactMatch DOID:8362 enteric pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004543 enteric pattern testicular yolk sac tumor skos:exactMatch NCIT:C39932 Testicular Yolk Sac Tumor, Enteric Pattern semapv:UnspecifiedMatching MONDO:0004543 enteric pattern testicular yolk sac tumor skos:exactMatch UMLS:C1515304 semapv:UnspecifiedMatching MONDO:0004544 chordoid meningioma skos:exactMatch DOID:8368 chordoid meningioma semapv:UnspecifiedMatching MONDO:0004544 chordoid meningioma skos:exactMatch NCIT:C6908 Chordoid Meningioma semapv:UnspecifiedMatching MONDO:0004544 chordoid meningioma skos:exactMatch UMLS:C1370510 semapv:UnspecifiedMatching MONDO:0004545 adult malignant schwannoma skos:exactMatch DOID:8369 adult malignant schwannoma semapv:UnspecifiedMatching MONDO:0004545 adult malignant schwannoma skos:exactMatch NCIT:C7814 Adult Malignant Peripheral Nerve Sheath Tumor semapv:UnspecifiedMatching MONDO:0004545 adult malignant schwannoma skos:exactMatch UMLS:C0278622 semapv:UnspecifiedMatching MONDO:0004546 lumbar plexus neoplasm skos:exactMatch DOID:8389 lumbar plexus neoplasm semapv:UnspecifiedMatching MONDO:0004546 lumbar plexus neoplasm skos:exactMatch NCIT:C5824 Lumbar Plexus Neoplasm semapv:UnspecifiedMatching MONDO:0004546 lumbar plexus neoplasm skos:exactMatch UMLS:C1334437 semapv:UnspecifiedMatching MONDO:0004547 reticular pattern testicular yolk sac tumor skos:exactMatch DOID:8392 reticular pattern testicular yolk sac tumor semapv:UnspecifiedMatching MONDO:0004547 reticular pattern testicular yolk sac tumor skos:exactMatch NCIT:C39923 Testicular Yolk Sac Tumor, Microcystic Pattern semapv:UnspecifiedMatching MONDO:0004547 reticular pattern testicular yolk sac tumor skos:exactMatch UMLS:C1515308 semapv:UnspecifiedMatching MONDO:0004548 adult type testicular granulosa cell tumor skos:exactMatch DOID:8394 adult type testicular granulosa cell tumor semapv:UnspecifiedMatching MONDO:0004548 adult type testicular granulosa cell tumor skos:exactMatch NCIT:C39946 Adult Testicular Granulosa Cell Tumor semapv:UnspecifiedMatching MONDO:0004548 adult type testicular granulosa cell tumor skos:exactMatch UMLS:C1515284 semapv:UnspecifiedMatching MONDO:0004549 cork-handlers' disease skos:exactMatch DOID:840 cork-handlers' disease semapv:UnspecifiedMatching MONDO:0004549 cork-handlers' disease skos:exactMatch SCTID:13394002 semapv:UnspecifiedMatching MONDO:0004549 cork-handlers' disease skos:exactMatch UMLS:C0152108 semapv:UnspecifiedMatching MONDO:0004550 malignant cornea melanoma skos:exactMatch DOID:8400 malignant cornea melanoma semapv:UnspecifiedMatching MONDO:0004550 malignant cornea melanoma skos:exactMatch NCIT:C4553 Corneal Melanoma semapv:UnspecifiedMatching MONDO:0004550 malignant cornea melanoma skos:exactMatch UMLS:C0346367 semapv:UnspecifiedMatching MONDO:0004551 Meckel diverticulitis skos:exactMatch DOID:8408 Meckel's diverticulitis semapv:UnspecifiedMatching MONDO:0004551 Meckel diverticulitis skos:exactMatch NCIT:C27300 Meckel Diverticulitis semapv:UnspecifiedMatching MONDO:0004551 Meckel diverticulitis skos:exactMatch SCTID:48241004 semapv:UnspecifiedMatching MONDO:0004551 Meckel diverticulitis skos:exactMatch UMLS:C0267497 semapv:UnspecifiedMatching MONDO:0004552 microinvasive cervical squamous cell carcinoma skos:exactMatch DOID:8409 microinvasive cervical squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004552 microinvasive cervical squamous cell carcinoma skos:exactMatch NCIT:C36094 Early Invasive Cervical Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004552 microinvasive cervical squamous cell carcinoma skos:exactMatch UMLS:C1333370 semapv:UnspecifiedMatching MONDO:0004554 childhood kidney angiomyolipoma skos:exactMatch DOID:8410 childhood kidney angiomyolipoma semapv:UnspecifiedMatching MONDO:0004554 childhood kidney angiomyolipoma skos:exactMatch NCIT:C6565 Childhood Kidney Angiomyolipoma semapv:UnspecifiedMatching MONDO:0004554 childhood kidney angiomyolipoma skos:exactMatch UMLS:C1333000 semapv:UnspecifiedMatching MONDO:0004555 kidney angiomyolipoma skos:exactMatch DOID:8411 kidney angiomyolipoma semapv:UnspecifiedMatching MONDO:0004555 kidney angiomyolipoma skos:exactMatch NCIT:C3888 Kidney Angiomyolipoma semapv:UnspecifiedMatching MONDO:0004555 kidney angiomyolipoma skos:exactMatch SCTID:254921004 semapv:UnspecifiedMatching MONDO:0004555 kidney angiomyolipoma skos:exactMatch UMLS:C0241961 semapv:UnspecifiedMatching MONDO:0004556 carcinoma arising in nasal papillomatosis skos:exactMatch DOID:8415 carcinoma arising in nasal papillomatosis semapv:UnspecifiedMatching MONDO:0004556 carcinoma arising in nasal papillomatosis skos:exactMatch NCIT:C27389 Carcinoma Arising in Nasal Papillomatosis semapv:UnspecifiedMatching MONDO:0004556 carcinoma arising in nasal papillomatosis skos:exactMatch UMLS:C1332840 semapv:UnspecifiedMatching MONDO:0004557 congenital fibrosarcoma skos:exactMatch DOID:8418 congenital fibrosarcoma semapv:UnspecifiedMatching MONDO:0004557 congenital fibrosarcoma skos:exactMatch NCIT:C4244 Infantile Fibrosarcoma semapv:UnspecifiedMatching MONDO:0004557 congenital fibrosarcoma skos:exactMatch SCTID:403996004 semapv:UnspecifiedMatching MONDO:0004557 congenital fibrosarcoma skos:exactMatch UMLS:C0334459 semapv:UnspecifiedMatching MONDO:0004558 thyroid gland macrofollicular adenoma skos:exactMatch DOID:8419 colloid adenoma semapv:UnspecifiedMatching MONDO:0004558 thyroid gland macrofollicular adenoma skos:exactMatch NCIT:C4161 Thyroid Gland Macrofollicular Adenoma semapv:UnspecifiedMatching MONDO:0004558 thyroid gland macrofollicular adenoma skos:exactMatch UMLS:C0334329 semapv:UnspecifiedMatching MONDO:0004559 malignant glandular tumor of peripheral nerve sheath skos:exactMatch DOID:8420 malignant glandular tumor of peripheral nerve sheath semapv:UnspecifiedMatching MONDO:0004559 malignant glandular tumor of peripheral nerve sheath skos:exactMatch NCIT:C6560 Glandular Malignant Peripheral Nerve Sheath Tumor semapv:UnspecifiedMatching MONDO:0004559 malignant glandular tumor of peripheral nerve sheath skos:exactMatch SCTID:699659007 semapv:UnspecifiedMatching MONDO:0004559 malignant glandular tumor of peripheral nerve sheath skos:exactMatch UMLS:C1333821 semapv:UnspecifiedMatching MONDO:0004560 follicular infundibulum tumor skos:exactMatch DOID:8426 follicular infundibulum tumor semapv:UnspecifiedMatching MONDO:0004560 follicular infundibulum tumor skos:exactMatch NCIT:C4469 Tumor of the Follicular Infundibulum semapv:UnspecifiedMatching MONDO:0004560 follicular infundibulum tumor skos:exactMatch SCTID:254694002 semapv:UnspecifiedMatching MONDO:0004560 follicular infundibulum tumor skos:exactMatch UMLS:C0346006 semapv:UnspecifiedMatching MONDO:0004561 retinal melanoma skos:exactMatch DOID:8427 retinal melanoma semapv:UnspecifiedMatching MONDO:0004561 retinal melanoma skos:exactMatch NCIT:C8601 Retinal Melanoma semapv:UnspecifiedMatching MONDO:0004561 retinal melanoma skos:exactMatch SCTID:423673009 semapv:UnspecifiedMatching MONDO:0004561 retinal melanoma skos:exactMatch UMLS:C0853394 semapv:UnspecifiedMatching MONDO:0004562 breast apocrine carcinoma in situ skos:exactMatch DOID:8428 breast apocrine carcinoma in situ semapv:UnspecifiedMatching MONDO:0004562 breast apocrine carcinoma in situ skos:exactMatch NCIT:C5140 Breast Apocrine Carcinoma In Situ semapv:UnspecifiedMatching MONDO:0004562 breast apocrine carcinoma in situ skos:exactMatch UMLS:C1332315 semapv:UnspecifiedMatching MONDO:0004563 physiological polycythemia skos:exactMatch DOID:8431 physiological polycythemia semapv:UnspecifiedMatching MONDO:0004563 physiological polycythemia skos:exactMatch NCIT:C27311 Physiological Polycythemia semapv:UnspecifiedMatching MONDO:0004563 physiological polycythemia skos:exactMatch UMLS:C0856817 semapv:UnspecifiedMatching MONDO:0004564 thyroid malformation skos:exactMatch DOID:8433 thyroid malformation semapv:UnspecifiedMatching MONDO:0004564 thyroid malformation skos:exactMatch NCIT:C27331 Thyroid Gland Malformation semapv:UnspecifiedMatching MONDO:0004565 intestinal obstruction skos:exactMatch DOID:8437 intestinal obstruction semapv:UnspecifiedMatching MONDO:0004565 intestinal obstruction skos:exactMatch NCIT:C9175 Bowel Obstruction semapv:UnspecifiedMatching MONDO:0004565 intestinal obstruction skos:exactMatch SCTID:81060008 semapv:UnspecifiedMatching MONDO:0004565 intestinal obstruction skos:exactMatch UMLS:C0021843 semapv:UnspecifiedMatching MONDO:0004565 intestinal obstruction skos:exactMatch mesh:D007415 semapv:UnspecifiedMatching MONDO:0004566 postgastrectomy syndrome skos:exactMatch DOID:8439 postgastrectomy syndrome semapv:UnspecifiedMatching MONDO:0004566 postgastrectomy syndrome skos:exactMatch SCTID:80193009 semapv:UnspecifiedMatching MONDO:0004566 postgastrectomy syndrome skos:exactMatch UMLS:C0032763 semapv:UnspecifiedMatching MONDO:0004566 postgastrectomy syndrome skos:exactMatch mesh:D011178 semapv:UnspecifiedMatching MONDO:0004567 ileus skos:exactMatch DOID:8440 ileus semapv:UnspecifiedMatching MONDO:0004567 ileus skos:exactMatch NCIT:C37979 Ileus semapv:UnspecifiedMatching MONDO:0004567 ileus skos:exactMatch SCTID:710572000 semapv:UnspecifiedMatching MONDO:0004567 ileus skos:exactMatch UMLS:C1258215 semapv:UnspecifiedMatching MONDO:0004567 ileus skos:exactMatch mesh:D045823 semapv:UnspecifiedMatching MONDO:0004568 paralytic ileus skos:exactMatch DOID:8442 paralytic ileus semapv:UnspecifiedMatching MONDO:0004568 paralytic ileus skos:exactMatch NCIT:C93045 Paralytic Ileus semapv:UnspecifiedMatching MONDO:0004568 paralytic ileus skos:exactMatch SCTID:55525008 semapv:UnspecifiedMatching MONDO:0004568 paralytic ileus skos:exactMatch UMLS:C0030446 semapv:UnspecifiedMatching MONDO:0004569 brachial plexus neuropathy from injury skos:exactMatch DOID:8443 brachial plexus lesion semapv:UnspecifiedMatching MONDO:0004569 brachial plexus neuropathy from injury skos:exactMatch UMLS:C0006091 semapv:UnspecifiedMatching MONDO:0004570 intestinal volvulus skos:exactMatch DOID:8445 intestinal volvulus semapv:UnspecifiedMatching MONDO:0004570 intestinal volvulus skos:exactMatch ICD10CM:K56.2 Volvulus semapv:UnspecifiedMatching MONDO:0004570 intestinal volvulus skos:exactMatch SCTID:9707006 semapv:UnspecifiedMatching MONDO:0004570 intestinal volvulus skos:exactMatch UMLS:C0042961 semapv:UnspecifiedMatching MONDO:0004570 intestinal volvulus skos:exactMatch mesh:D045822 semapv:UnspecifiedMatching MONDO:0004571 intestinal impaction skos:exactMatch DOID:8448 intestinal impaction semapv:UnspecifiedMatching MONDO:0004571 intestinal impaction skos:exactMatch SCTID:62851005 semapv:UnspecifiedMatching MONDO:0004572 cyclothymic disorder skos:exactMatch DOID:845 cyclothymic disorder semapv:UnspecifiedMatching MONDO:0004572 cyclothymic disorder skos:exactMatch ICD10CM:F34.0 Cyclothymic disorder semapv:UnspecifiedMatching MONDO:0004572 cyclothymic disorder skos:exactMatch SCTID:76105009 semapv:UnspecifiedMatching MONDO:0004572 cyclothymic disorder skos:exactMatch mesh:D003527 semapv:UnspecifiedMatching MONDO:0004573 ariboflavinosis skos:exactMatch DOID:8454 riboflavin deficiency semapv:UnspecifiedMatching MONDO:0004573 ariboflavinosis skos:exactMatch OMIM:615026 riboflavin deficiency semapv:UnspecifiedMatching MONDO:0004573 ariboflavinosis skos:exactMatch SCTID:20307000 semapv:UnspecifiedMatching MONDO:0004574 pyridoxine deficiency anemia skos:exactMatch DOID:8455 pyridoxine deficiency anemia semapv:UnspecifiedMatching MONDO:0004574 pyridoxine deficiency anemia skos:exactMatch NCIT:C85221 Vitamin B6 Deficiency semapv:UnspecifiedMatching MONDO:0004574 pyridoxine deficiency anemia skos:exactMatch SCTID:86448001 semapv:UnspecifiedMatching MONDO:0004574 pyridoxine deficiency anemia skos:exactMatch mesh:D026681 semapv:UnspecifiedMatching MONDO:0004575 choline deficiency disease skos:exactMatch DOID:8456 choline deficiency disease semapv:UnspecifiedMatching MONDO:0004575 choline deficiency disease skos:exactMatch SCTID:238113006 semapv:UnspecifiedMatching MONDO:0004575 choline deficiency disease skos:exactMatch UMLS:C0008412 semapv:UnspecifiedMatching MONDO:0004575 choline deficiency disease skos:exactMatch mesh:D002796 semapv:UnspecifiedMatching MONDO:0004577 corneal ulcer skos:exactMatch DOID:8463 corneal ulcer semapv:UnspecifiedMatching MONDO:0004577 corneal ulcer skos:exactMatch ICD10CM:H16.0 Corneal ulcer semapv:UnspecifiedMatching MONDO:0004577 corneal ulcer skos:exactMatch NCIT:C50515 Corneal Ulcer semapv:UnspecifiedMatching MONDO:0004577 corneal ulcer skos:exactMatch SCTID:91514001 semapv:UnspecifiedMatching MONDO:0004577 corneal ulcer skos:exactMatch UMLS:C0010043 semapv:UnspecifiedMatching MONDO:0004577 corneal ulcer skos:exactMatch mesh:D003320 semapv:UnspecifiedMatching MONDO:0004578 flat retinoschisis skos:exactMatch DOID:8464 flat retinoschisis semapv:UnspecifiedMatching MONDO:0004578 flat retinoschisis skos:exactMatch SCTID:83405000 semapv:UnspecifiedMatching MONDO:0004578 flat retinoschisis skos:exactMatch UMLS:C0154817 semapv:UnspecifiedMatching MONDO:0004579 retinoschisis skos:exactMatch DOID:8465 retinoschisis semapv:UnspecifiedMatching MONDO:0004579 retinoschisis skos:exactMatch NCIT:C85046 Retinoschisis semapv:UnspecifiedMatching MONDO:0004579 retinoschisis skos:exactMatch SCTID:44268007 semapv:UnspecifiedMatching MONDO:0004579 retinoschisis skos:exactMatch UMLS:C0152439 semapv:UnspecifiedMatching MONDO:0004579 retinoschisis skos:exactMatch mesh:D041441 semapv:UnspecifiedMatching MONDO:0004580 retinal degeneration skos:exactMatch DOID:8466 retinal degeneration semapv:UnspecifiedMatching MONDO:0004580 retinal degeneration skos:exactMatch NCIT:C34979 Retinal Degeneration semapv:UnspecifiedMatching MONDO:0004580 retinal degeneration skos:exactMatch SCTID:95695004 semapv:UnspecifiedMatching MONDO:0004580 retinal degeneration skos:exactMatch mesh:D012162 semapv:UnspecifiedMatching MONDO:0004582 rheumatic myocarditis skos:exactMatch DOID:8481 rheumatic myocarditis semapv:UnspecifiedMatching MONDO:0004582 rheumatic myocarditis skos:exactMatch NCIT:C35202 Acute Rheumatic Myocarditis semapv:UnspecifiedMatching MONDO:0004582 rheumatic myocarditis skos:exactMatch SCTID:195136004 semapv:UnspecifiedMatching MONDO:0004582 rheumatic myocarditis skos:exactMatch UMLS:C0155557 semapv:UnspecifiedMatching MONDO:0004583 transient retinal arterial occlusion skos:exactMatch DOID:8482 transient retinal arterial occlusion semapv:UnspecifiedMatching MONDO:0004583 transient retinal arterial occlusion skos:exactMatch NCIT:C35193 Transient Retinal Arterial Occlusion semapv:UnspecifiedMatching MONDO:0004583 transient retinal arterial occlusion skos:exactMatch SCTID:87224000 semapv:UnspecifiedMatching MONDO:0004583 transient retinal arterial occlusion skos:exactMatch UMLS:C0154840 semapv:UnspecifiedMatching MONDO:0004584 maple bark strippers' lung skos:exactMatch DOID:8484 maple bark strippers' lung semapv:UnspecifiedMatching MONDO:0004584 maple bark strippers' lung skos:exactMatch SCTID:86638007 semapv:UnspecifiedMatching MONDO:0004584 maple bark strippers' lung skos:exactMatch UMLS:C0155890 semapv:UnspecifiedMatching MONDO:0004585 polyhydramnios skos:exactMatch DOID:8488 polyhydramnios semapv:UnspecifiedMatching MONDO:0004585 polyhydramnios skos:exactMatch SCTID:86203003 semapv:UnspecifiedMatching MONDO:0004585 polyhydramnios skos:exactMatch mesh:D006831 semapv:UnspecifiedMatching MONDO:0004586 rheumatoid lung disease skos:exactMatch DOID:849 rheumatoid arthritis interstitial lung disease semapv:UnspecifiedMatching MONDO:0004586 rheumatoid lung disease skos:exactMatch SCTID:398726004 semapv:UnspecifiedMatching MONDO:0004586 rheumatoid lung disease skos:exactMatch UMLS:C0994344 semapv:UnspecifiedMatching MONDO:0004587 hereditary night blindness skos:exactMatch DOID:8498 hereditary night blindness semapv:UnspecifiedMatching MONDO:0004587 hereditary night blindness skos:exactMatch SCTID:193687000 semapv:UnspecifiedMatching MONDO:0004588 night blindness skos:exactMatch DOID:8499 night blindness semapv:UnspecifiedMatching MONDO:0004588 night blindness skos:exactMatch ICD10CM:H53.6 Night blindness semapv:UnspecifiedMatching MONDO:0004588 night blindness skos:exactMatch NCIT:C34850 Night Blindness semapv:UnspecifiedMatching MONDO:0004588 night blindness skos:exactMatch SCTID:65194006 semapv:UnspecifiedMatching MONDO:0004588 night blindness skos:exactMatch UMLS:C0028077 semapv:UnspecifiedMatching MONDO:0004588 night blindness skos:exactMatch mesh:D009755 semapv:UnspecifiedMatching MONDO:0004591 impetigo herpetiformis skos:exactMatch DOID:8503 impetigo herpetiformis semapv:UnspecifiedMatching MONDO:0004591 impetigo herpetiformis skos:exactMatch SCTID:65539006 semapv:UnspecifiedMatching MONDO:0004591 impetigo herpetiformis skos:exactMatch UMLS:C1314968 semapv:UnspecifiedMatching MONDO:0004592 impetigo skos:exactMatch DOID:8504 impetigo semapv:UnspecifiedMatching MONDO:0004592 impetigo skos:exactMatch ICD10CM:L01 Impetigo semapv:UnspecifiedMatching MONDO:0004592 impetigo skos:exactMatch NCIT:C99088 Impetigo semapv:UnspecifiedMatching MONDO:0004592 impetigo skos:exactMatch SCTID:48277006 semapv:UnspecifiedMatching MONDO:0004592 impetigo skos:exactMatch UMLS:C0021099 semapv:UnspecifiedMatching MONDO:0004592 impetigo skos:exactMatch mesh:D007169 semapv:UnspecifiedMatching MONDO:0004593 Bartholin duct cyst skos:exactMatch DOID:851 Bartholin's duct cyst semapv:UnspecifiedMatching MONDO:0004593 Bartholin duct cyst skos:exactMatch ICD10CM:N75.0 Cyst of Bartholin's gland semapv:UnspecifiedMatching MONDO:0004593 Bartholin duct cyst skos:exactMatch SCTID:57044006 semapv:UnspecifiedMatching MONDO:0004593 Bartholin duct cyst skos:exactMatch UMLS:C0004767 semapv:UnspecifiedMatching MONDO:0004594 puerperal pulmonary embolism skos:exactMatch DOID:8512 puerperal pulmonary embolism semapv:UnspecifiedMatching MONDO:0004594 puerperal pulmonary embolism skos:exactMatch SCTID:200284000 semapv:UnspecifiedMatching MONDO:0004596 cor pulmonale skos:exactMatch DOID:8515 Cor pulmonale semapv:UnspecifiedMatching MONDO:0004596 cor pulmonale skos:exactMatch ICD10CM:I27.81 Cor pulmonale (chronic) semapv:UnspecifiedMatching MONDO:0004596 cor pulmonale skos:exactMatch SCTID:274096000 semapv:UnspecifiedMatching MONDO:0004596 cor pulmonale skos:exactMatch UMLS:C0034072 semapv:UnspecifiedMatching MONDO:0004596 cor pulmonale skos:exactMatch mesh:D011660 semapv:UnspecifiedMatching MONDO:0004597 pulmonary embolism and infarction skos:exactMatch DOID:8516 pulmonary embolism and infarction semapv:UnspecifiedMatching MONDO:0004597 pulmonary embolism and infarction skos:exactMatch NCIT:C50714 Pulmonary Infarction semapv:UnspecifiedMatching MONDO:0004597 pulmonary embolism and infarction skos:exactMatch SCTID:64662007 semapv:UnspecifiedMatching MONDO:0004597 pulmonary embolism and infarction skos:exactMatch mesh:D054060 semapv:UnspecifiedMatching MONDO:0004598 acute cor pulmonale skos:exactMatch DOID:8514 acute pulmonary heart disease semapv:UnspecifiedMatching MONDO:0004598 acute cor pulmonale skos:exactMatch DOID:8517 acute cor pulmonale semapv:UnspecifiedMatching MONDO:0004598 acute cor pulmonale skos:exactMatch SCTID:49584005 semapv:UnspecifiedMatching MONDO:0004598 acute cor pulmonale skos:exactMatch SCTID:67189007 semapv:UnspecifiedMatching MONDO:0004598 acute cor pulmonale skos:exactMatch UMLS:C0155671 semapv:UnspecifiedMatching MONDO:0004599 barbiturate abuse skos:exactMatch DOID:8519 barbiturate abuse semapv:UnspecifiedMatching MONDO:0004599 barbiturate abuse skos:exactMatch SCTID:231462006 semapv:UnspecifiedMatching MONDO:0004600 monocytic leukemia skos:exactMatch DOID:8527 monocytic leukemia semapv:UnspecifiedMatching MONDO:0004600 monocytic leukemia skos:exactMatch SCTID:188744006 semapv:UnspecifiedMatching MONDO:0004601 ulcer of lower limbs skos:exactMatch DOID:8529 ulcer of lower limbs semapv:UnspecifiedMatching MONDO:0004601 ulcer of lower limbs skos:exactMatch SCTID:419193008 semapv:UnspecifiedMatching MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:exactMatch DOID:8543 Hodgkin's lymphoma, lymphocytic-histiocytic predominance semapv:UnspecifiedMatching MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:exactMatch NCIT:C6913 Lymphocyte-Rich Classic Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:exactMatch Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type semapv:UnspecifiedMatching MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:exactMatch SCTID:118607005 semapv:UnspecifiedMatching MONDO:0004605 chronic ulcer of skin skos:exactMatch DOID:8549 chronic ulcer of skin semapv:UnspecifiedMatching MONDO:0004605 chronic ulcer of skin skos:exactMatch SCTID:19429009 semapv:UnspecifiedMatching MONDO:0004605 chronic ulcer of skin skos:exactMatch UMLS:C0157738 semapv:UnspecifiedMatching MONDO:0004607 vallecula cancer skos:exactMatch DOID:8556 vallecula cancer semapv:UnspecifiedMatching MONDO:0004607 vallecula cancer skos:exactMatch ICD10CM:C10.0 Malignant neoplasm of vallecula semapv:UnspecifiedMatching MONDO:0004607 vallecula cancer skos:exactMatch SCTID:363395000 semapv:UnspecifiedMatching MONDO:0004607 vallecula cancer skos:exactMatch UMLS:C0153386 semapv:UnspecifiedMatching MONDO:0004608 oropharynx cancer skos:exactMatch DOID:8557 oropharynx cancer semapv:UnspecifiedMatching MONDO:0004608 oropharynx cancer skos:exactMatch ICD10CM:C10 Malignant neoplasm of oropharynx semapv:UnspecifiedMatching MONDO:0004608 oropharynx cancer skos:exactMatch NCIT:C7398 Malignant Oropharyngeal Neoplasm semapv:UnspecifiedMatching MONDO:0004608 oropharynx cancer skos:exactMatch UMLS:C0153382 semapv:UnspecifiedMatching MONDO:0004608 oropharynx cancer skos:exactMatch UMLS:C0153389 semapv:UnspecifiedMatching MONDO:0004608 oropharynx cancer skos:exactMatch UMLS:C0153390 semapv:UnspecifiedMatching MONDO:0004608 oropharynx cancer skos:exactMatch UMLS:C3165521 semapv:UnspecifiedMatching MONDO:0004608 oropharynx cancer skos:exactMatch mesh:D009959 semapv:UnspecifiedMatching MONDO:0004609 herpes simplex infectious disease skos:exactMatch DOID:8566 herpes simplex semapv:UnspecifiedMatching MONDO:0004609 herpes simplex infectious disease skos:exactMatch ICD10CM:B00 Herpesviral [herpes simplex] infections semapv:UnspecifiedMatching MONDO:0004609 herpes simplex infectious disease skos:exactMatch SCTID:88594005 semapv:UnspecifiedMatching MONDO:0004609 herpes simplex infectious disease skos:exactMatch UMLS:C0019348 semapv:UnspecifiedMatching MONDO:0004609 herpes simplex infectious disease skos:exactMatch mesh:D006561 semapv:UnspecifiedMatching MONDO:0004611 soft palate cancer skos:exactMatch DOID:8578 soft palate cancer semapv:UnspecifiedMatching MONDO:0004611 soft palate cancer skos:exactMatch ICD10CM:C05.1 Malignant neoplasm of soft palate semapv:UnspecifiedMatching MONDO:0004611 soft palate cancer skos:exactMatch NCIT:C3529 Malignant Soft Palate Neoplasm semapv:UnspecifiedMatching MONDO:0004611 soft palate cancer skos:exactMatch SCTID:363388009 semapv:UnspecifiedMatching MONDO:0004611 soft palate cancer skos:exactMatch UMLS:C0153376 semapv:UnspecifiedMatching MONDO:0004612 malignant histiocytosis skos:exactMatch DOID:2570 malignant histiocytic disease semapv:UnspecifiedMatching MONDO:0004612 malignant histiocytosis skos:exactMatch NCIT:C7202 Malignant Histiocytosis semapv:UnspecifiedMatching MONDO:0004612 malignant histiocytosis skos:exactMatch SCTID:118612006 semapv:UnspecifiedMatching MONDO:0004612 malignant histiocytosis skos:exactMatch UMLS:C0019623 semapv:UnspecifiedMatching MONDO:0004612 malignant histiocytosis skos:exactMatch mesh:D015620 semapv:UnspecifiedMatching MONDO:0004613 acute intestinal ischemia skos:exactMatch DOID:8590 acute vascular insufficiency of intestine semapv:UnspecifiedMatching MONDO:0004613 acute intestinal ischemia skos:exactMatch NCIT:C34356 Acute Intestinal Ischemia semapv:UnspecifiedMatching MONDO:0004613 acute intestinal ischemia skos:exactMatch SCTID:91489000 semapv:UnspecifiedMatching MONDO:0004613 acute intestinal ischemia skos:exactMatch UMLS:C0001363 semapv:UnspecifiedMatching MONDO:0004614 chronic monocytic leukemia skos:exactMatch DOID:8593 chronic monocytic leukemia semapv:UnspecifiedMatching MONDO:0004614 chronic monocytic leukemia skos:exactMatch NCIT:C34774 Chronic Monocytic Leukemia semapv:UnspecifiedMatching MONDO:0004614 chronic monocytic leukemia skos:exactMatch SCTID:188745007 semapv:UnspecifiedMatching MONDO:0004614 chronic monocytic leukemia skos:exactMatch UMLS:C0023466 semapv:UnspecifiedMatching MONDO:0004615 upper gum cancer skos:exactMatch DOID:8601 upper gum cancer semapv:UnspecifiedMatching MONDO:0004615 upper gum cancer skos:exactMatch SCTID:363383000 semapv:UnspecifiedMatching MONDO:0004615 upper gum cancer skos:exactMatch UMLS:C0153365 semapv:UnspecifiedMatching MONDO:0004616 herpetic whitlow skos:exactMatch DOID:8607 herpetic whitlow semapv:UnspecifiedMatching MONDO:0004616 herpetic whitlow skos:exactMatch NCIT:C128402 Herpetic Whitlow semapv:UnspecifiedMatching MONDO:0004616 herpetic whitlow skos:exactMatch SCTID:43891009 semapv:UnspecifiedMatching MONDO:0004616 herpetic whitlow skos:exactMatch UMLS:C0153042 semapv:UnspecifiedMatching MONDO:0004617 recurrent hypersomnia skos:exactMatch DOID:8619 recurrent hypersomnia semapv:UnspecifiedMatching MONDO:0004617 recurrent hypersomnia skos:exactMatch ICD10CM:G47.13 Recurrent hypersomnia semapv:UnspecifiedMatching MONDO:0004617 recurrent hypersomnia skos:exactMatch SCTID:426451004 semapv:UnspecifiedMatching MONDO:0004617 recurrent hypersomnia skos:exactMatch UMLS:C0751226 semapv:UnspecifiedMatching MONDO:0004618 diplegia of upper limb skos:exactMatch DOID:862 diplegia of upper limb semapv:UnspecifiedMatching MONDO:0004618 diplegia of upper limb skos:exactMatch SCTID:54099005 semapv:UnspecifiedMatching MONDO:0004618 diplegia of upper limb skos:exactMatch UMLS:C0154701 semapv:UnspecifiedMatching MONDO:0004619 measles skos:exactMatch DOID:8622 measles semapv:UnspecifiedMatching MONDO:0004619 measles skos:exactMatch ICD10CM:B05 Measles semapv:UnspecifiedMatching MONDO:0004619 measles skos:exactMatch NCIT:C96406 Measles semapv:UnspecifiedMatching MONDO:0004619 measles skos:exactMatch SCTID:14189004 semapv:UnspecifiedMatching MONDO:0004619 measles skos:exactMatch UMLS:C0025007 semapv:UnspecifiedMatching MONDO:0004619 measles skos:exactMatch mesh:D008457 semapv:UnspecifiedMatching MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion skos:exactMatch DOID:8628 Hodgkin's lymphoma, lymphocytic depletion semapv:UnspecifiedMatching MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion skos:exactMatch NCIT:C9125 Adult Lymphocyte-Depleted Classic Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion skos:exactMatch Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type semapv:UnspecifiedMatching MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion skos:exactMatch SCTID:118610003 semapv:UnspecifiedMatching MONDO:0004621 upper lip cancer skos:exactMatch DOID:8630 upper lip cancer semapv:UnspecifiedMatching MONDO:0004622 chronic intestinal vascular insufficiency skos:exactMatch DOID:8633 chronic intestinal vascular insufficiency semapv:UnspecifiedMatching MONDO:0004622 chronic intestinal vascular insufficiency skos:exactMatch SCTID:111354009 semapv:UnspecifiedMatching MONDO:0004622 chronic intestinal vascular insufficiency skos:exactMatch UMLS:C0311262 semapv:UnspecifiedMatching MONDO:0004624 uvula cancer skos:exactMatch DOID:8635 uvula cancer semapv:UnspecifiedMatching MONDO:0004624 uvula cancer skos:exactMatch NCIT:C35177 Malignant Uvula Neoplasm semapv:UnspecifiedMatching MONDO:0004624 uvula cancer skos:exactMatch SCTID:363389001 semapv:UnspecifiedMatching MONDO:0004624 uvula cancer skos:exactMatch UMLS:C0153377 semapv:UnspecifiedMatching MONDO:0004625 phlebitis skos:exactMatch DOID:864 phlebitis semapv:UnspecifiedMatching MONDO:0004625 phlebitis skos:exactMatch NCIT:C38003 Phlebitis semapv:UnspecifiedMatching MONDO:0004625 phlebitis skos:exactMatch SCTID:61599003 semapv:UnspecifiedMatching MONDO:0004625 phlebitis skos:exactMatch mesh:D010689 semapv:UnspecifiedMatching MONDO:0004626 obsolete Hodgkin's paragranuloma skos:exactMatch DOID:8642 Hodgkin's paragranuloma semapv:UnspecifiedMatching MONDO:0004626 obsolete Hodgkin's paragranuloma skos:exactMatch NCIT:C26956 Hodgkin's Paragranuloma semapv:UnspecifiedMatching MONDO:0004627 duodenitis skos:exactMatch DOID:8643 duodenitis semapv:UnspecifiedMatching MONDO:0004627 duodenitis skos:exactMatch ICD10CM:K29.8 Duodenitis semapv:UnspecifiedMatching MONDO:0004627 duodenitis skos:exactMatch NCIT:C94409 Duodenitis semapv:UnspecifiedMatching MONDO:0004627 duodenitis skos:exactMatch SCTID:72007001 semapv:UnspecifiedMatching MONDO:0004627 duodenitis skos:exactMatch UMLS:C0013298 semapv:UnspecifiedMatching MONDO:0004627 duodenitis skos:exactMatch mesh:D004382 semapv:UnspecifiedMatching MONDO:0004628 gastroduodenitis skos:exactMatch DOID:8644 gastroduodenitis semapv:UnspecifiedMatching MONDO:0004628 gastroduodenitis skos:exactMatch SCTID:196731005 semapv:UnspecifiedMatching MONDO:0004628 gastroduodenitis skos:exactMatch UMLS:C0267166 semapv:UnspecifiedMatching MONDO:0004629 subacute delirium skos:exactMatch DOID:8645 subacute delirium semapv:UnspecifiedMatching MONDO:0004629 subacute delirium skos:exactMatch SCTID:191507002 semapv:UnspecifiedMatching MONDO:0004630 substance-induced psychosis skos:exactMatch DOID:8646 substance-induced psychosis semapv:UnspecifiedMatching MONDO:0004631 tongue cancer skos:exactMatch DOID:8649 tongue cancer semapv:UnspecifiedMatching MONDO:0004631 tongue cancer skos:exactMatch NCIT:C9345 Malignant Tongue Neoplasm semapv:UnspecifiedMatching MONDO:0004631 tongue cancer skos:exactMatch SCTID:363360003 semapv:UnspecifiedMatching MONDO:0004631 tongue cancer skos:exactMatch mesh:D014062 semapv:UnspecifiedMatching MONDO:0004632 obsolete Hodgkin's granuloma skos:exactMatch DOID:8651 Hodgkin's granuloma semapv:UnspecifiedMatching MONDO:0004632 obsolete Hodgkin's granuloma skos:exactMatch NCIT:C6914 Hodgkin's Granuloma semapv:UnspecifiedMatching MONDO:0004632 obsolete Hodgkin's granuloma skos:exactMatch SCTID:118602004 semapv:UnspecifiedMatching MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch DOID:8654 Hodgkin's lymphoma, mixed cellularity semapv:UnspecifiedMatching MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch NCIT:C3517 Mixed Cellularity Classic Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type semapv:UnspecifiedMatching MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch SCTID:118609008 semapv:UnspecifiedMatching MONDO:0004634 vein disorder skos:exactMatch DOID:866 vein disease semapv:UnspecifiedMatching MONDO:0004634 vein disorder skos:exactMatch NCIT:C35279 Vein Disorder semapv:UnspecifiedMatching MONDO:0004634 vein disorder skos:exactMatch SCTID:90507008 semapv:UnspecifiedMatching MONDO:0004634 vein disorder skos:exactMatch UMLS:C0235522 semapv:UnspecifiedMatching MONDO:0004635 postcricoid region cancer skos:exactMatch DOID:8660 postcricoid region cancer semapv:UnspecifiedMatching MONDO:0004635 postcricoid region cancer skos:exactMatch NCIT:C9323 Malignant Postcricoid Neoplasm semapv:UnspecifiedMatching MONDO:0004635 postcricoid region cancer skos:exactMatch SCTID:363400004 semapv:UnspecifiedMatching MONDO:0004635 postcricoid region cancer skos:exactMatch UMLS:C0496769 semapv:UnspecifiedMatching MONDO:0004636 lip carcinoma in situ skos:exactMatch DOID:8661 lip carcinoma in situ semapv:UnspecifiedMatching MONDO:0004636 lip carcinoma in situ skos:exactMatch NCIT:C4588 Stage 0 Lip Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0004636 lip carcinoma in situ skos:exactMatch SCTID:92643000 semapv:UnspecifiedMatching MONDO:0004636 lip carcinoma in situ skos:exactMatch UMLS:C0347082 semapv:UnspecifiedMatching MONDO:0004636 lip carcinoma in situ skos:exactMatch UMLS:C4316815 semapv:UnspecifiedMatching MONDO:0004637 aryepiglottic fold cancer skos:exactMatch DOID:8663 aryepiglottic fold cancer semapv:UnspecifiedMatching MONDO:0004637 aryepiglottic fold cancer skos:exactMatch ICD10CM:C13.1 Malignant neoplasm of aryepiglottic fold, hypopharyngeal aspect semapv:UnspecifiedMatching MONDO:0004637 aryepiglottic fold cancer skos:exactMatch SCTID:187708004 semapv:UnspecifiedMatching MONDO:0004638 lymphosarcoma skos:exactMatch NCIT:C26919 Lymphosarcoma semapv:UnspecifiedMatching MONDO:0004638 lymphosarcoma skos:exactMatch SCTID:188498009 semapv:UnspecifiedMatching MONDO:0004639 perinatal necrotizing enterocolitis skos:exactMatch DOID:8677 perinatal necrotizing enterocolitis semapv:UnspecifiedMatching MONDO:0004639 perinatal necrotizing enterocolitis skos:exactMatch SCTID:397729009 semapv:UnspecifiedMatching MONDO:0004639 perinatal necrotizing enterocolitis skos:exactMatch UMLS:C4082937 semapv:UnspecifiedMatching MONDO:0004640 alcoholic gastritis skos:exactMatch DOID:8680 alcoholic gastritis semapv:UnspecifiedMatching MONDO:0004640 alcoholic gastritis skos:exactMatch ICD10CM:K29.2 Alcoholic gastritis semapv:UnspecifiedMatching MONDO:0004640 alcoholic gastritis skos:exactMatch NCIT:C26977 Alcoholic Gastritis semapv:UnspecifiedMatching MONDO:0004640 alcoholic gastritis skos:exactMatch SCTID:2043009 semapv:UnspecifiedMatching MONDO:0004640 alcoholic gastritis skos:exactMatch UMLS:C0156076 semapv:UnspecifiedMatching MONDO:0004641 skin carcinoma in situ skos:exactMatch DOID:8687 skin carcinoma in situ semapv:UnspecifiedMatching MONDO:0004641 skin carcinoma in situ skos:exactMatch ICD10CM:D04 Carcinoma in situ of skin semapv:UnspecifiedMatching MONDO:0004641 skin carcinoma in situ skos:exactMatch NCIT:C3640 Stage 0 Skin Cancer semapv:UnspecifiedMatching MONDO:0004641 skin carcinoma in situ skos:exactMatch SCTID:92749008 semapv:UnspecifiedMatching MONDO:0004641 skin carcinoma in situ skos:exactMatch UMLS:C0154073 semapv:UnspecifiedMatching MONDO:0004642 tonsillar pillar cancer skos:exactMatch DOID:8688 tonsillar pillar cancer semapv:UnspecifiedMatching MONDO:0004642 tonsillar pillar cancer skos:exactMatch ICD10CM:C09.1 Malignant neoplasm of tonsillar pillar (anterior) (posterior) semapv:UnspecifiedMatching MONDO:0004642 tonsillar pillar cancer skos:exactMatch SCTID:187675005 semapv:UnspecifiedMatching MONDO:0004642 tonsillar pillar cancer skos:exactMatch UMLS:C0153385 semapv:UnspecifiedMatching MONDO:0004643 myeloid leukemia skos:exactMatch DOID:8692 myeloid leukemia semapv:UnspecifiedMatching MONDO:0004643 myeloid leukemia skos:exactMatch NCIT:C3172 Myeloid Leukemia semapv:UnspecifiedMatching MONDO:0004643 myeloid leukemia skos:exactMatch SCTID:188732008 semapv:UnspecifiedMatching MONDO:0004643 myeloid leukemia skos:exactMatch UMLS:C0023470 semapv:UnspecifiedMatching MONDO:0004643 myeloid leukemia skos:exactMatch mesh:D007951 semapv:UnspecifiedMatching MONDO:0004644 subacute monocytic leukemia skos:exactMatch DOID:8696 subacute monocytic leukemia semapv:UnspecifiedMatching MONDO:0004644 subacute monocytic leukemia skos:exactMatch SCTID:188746008 semapv:UnspecifiedMatching MONDO:0004644 subacute monocytic leukemia skos:exactMatch UMLS:C0152275 semapv:UnspecifiedMatching MONDO:0004645 cheek mucosa cancer skos:exactMatch DOID:8702 cheek mucosa cancer semapv:UnspecifiedMatching MONDO:0004645 cheek mucosa cancer skos:exactMatch NCIT:C9320 Malignant Buccal Mucosa Neoplasm semapv:UnspecifiedMatching MONDO:0004645 cheek mucosa cancer skos:exactMatch SCTID:363386008 semapv:UnspecifiedMatching MONDO:0004645 cheek mucosa cancer skos:exactMatch UMLS:C0153373 semapv:UnspecifiedMatching MONDO:0004646 decubitus ulcer skos:exactMatch DOID:8717 decubitus ulcer semapv:UnspecifiedMatching MONDO:0004646 decubitus ulcer skos:exactMatch SCTID:399912005 semapv:UnspecifiedMatching MONDO:0004646 decubitus ulcer skos:exactMatch UMLS:C4554531 semapv:UnspecifiedMatching MONDO:0004646 decubitus ulcer skos:exactMatch mesh:D003668 semapv:UnspecifiedMatching MONDO:0004647 in situ carcinoma skos:exactMatch DOID:8719 in situ carcinoma semapv:UnspecifiedMatching MONDO:0004647 in situ carcinoma skos:exactMatch NCIT:C2917 Carcinoma In Situ semapv:UnspecifiedMatching MONDO:0004647 in situ carcinoma skos:exactMatch SCTID:109355002 semapv:UnspecifiedMatching MONDO:0004647 in situ carcinoma skos:exactMatch UMLS:C0007099 semapv:UnspecifiedMatching MONDO:0004647 in situ carcinoma skos:exactMatch mesh:D002278 semapv:UnspecifiedMatching MONDO:0004648 vascular dementia skos:exactMatch DOID:8725 vascular dementia semapv:UnspecifiedMatching MONDO:0004648 vascular dementia skos:exactMatch NCIT:C34525 Vascular Dementia semapv:UnspecifiedMatching MONDO:0004648 vascular dementia skos:exactMatch SCTID:429998004 semapv:UnspecifiedMatching MONDO:0004648 vascular dementia skos:exactMatch UMLS:C0011269 semapv:UnspecifiedMatching MONDO:0004648 vascular dementia skos:exactMatch mesh:D015140 semapv:UnspecifiedMatching MONDO:0004649 anaerobic pneumonia skos:exactMatch DOID:873 anaerobic pneumonia semapv:UnspecifiedMatching MONDO:0004649 anaerobic pneumonia skos:exactMatch SCTID:409664000 semapv:UnspecifiedMatching MONDO:0004649 anaerobic pneumonia skos:exactMatch UMLS:C1443976 semapv:UnspecifiedMatching MONDO:0004650 malignant carotid body paraganglioma skos:exactMatch DOID:8731 carotid body cancer semapv:UnspecifiedMatching MONDO:0004650 malignant carotid body paraganglioma skos:exactMatch ICD10CM:C75.4 Malignant neoplasm of carotid body semapv:UnspecifiedMatching MONDO:0004650 malignant carotid body paraganglioma skos:exactMatch NCIT:C3574 Metastatic Carotid Body Paraganglioma semapv:UnspecifiedMatching MONDO:0004650 malignant carotid body paraganglioma skos:exactMatch SCTID:447883002 semapv:UnspecifiedMatching MONDO:0004650 malignant carotid body paraganglioma skos:exactMatch UMLS:C0153656 semapv:UnspecifiedMatching MONDO:0004651 smallpox skos:exactMatch DOID:8736 smallpox semapv:UnspecifiedMatching MONDO:0004651 smallpox skos:exactMatch ICD10CM:B03 Smallpox semapv:UnspecifiedMatching MONDO:0004651 smallpox skos:exactMatch NCIT:C35027 Smallpox semapv:UnspecifiedMatching MONDO:0004651 smallpox skos:exactMatch SCTID:67924001 semapv:UnspecifiedMatching MONDO:0004651 smallpox skos:exactMatch UMLS:C0037354 semapv:UnspecifiedMatching MONDO:0004651 smallpox skos:exactMatch mesh:D012899 semapv:UnspecifiedMatching MONDO:0004652 bacterial pneumonia skos:exactMatch DOID:874 bacterial pneumonia semapv:UnspecifiedMatching MONDO:0004652 bacterial pneumonia skos:exactMatch NCIT:C26704 Bacterial Pneumonia semapv:UnspecifiedMatching MONDO:0004652 bacterial pneumonia skos:exactMatch SCTID:53084003 semapv:UnspecifiedMatching MONDO:0004652 bacterial pneumonia skos:exactMatch UMLS:C0004626 semapv:UnspecifiedMatching MONDO:0004652 bacterial pneumonia skos:exactMatch mesh:D018410 semapv:UnspecifiedMatching MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:exactMatch DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative semapv:UnspecifiedMatching MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:exactMatch NCIT:C3519 Atypical Chronic Myeloid Leukemia semapv:UnspecifiedMatching MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:exactMatch Orphanet:98824 Atypical chronic myeloid leukemia semapv:UnspecifiedMatching MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:exactMatch SCTID:277589003 semapv:UnspecifiedMatching MONDO:0004656 rubella skos:exactMatch DOID:8781 rubella semapv:UnspecifiedMatching MONDO:0004656 rubella skos:exactMatch ICD10CM:B06 Rubella [German measles] semapv:UnspecifiedMatching MONDO:0004656 rubella skos:exactMatch NCIT:C85051 Rubella Infection semapv:UnspecifiedMatching MONDO:0004656 rubella skos:exactMatch SCTID:36653000 semapv:UnspecifiedMatching MONDO:0004656 rubella skos:exactMatch UMLS:C0035920 semapv:UnspecifiedMatching MONDO:0004656 rubella skos:exactMatch mesh:D012409 semapv:UnspecifiedMatching MONDO:0004657 disseminated chorioretinitis skos:exactMatch DOID:8787 disseminated chorioretinitis semapv:UnspecifiedMatching MONDO:0004657 disseminated chorioretinitis skos:exactMatch SCTID:78769001 semapv:UnspecifiedMatching MONDO:0004657 disseminated chorioretinitis skos:exactMatch UMLS:C0154879 semapv:UnspecifiedMatching MONDO:0004658 breast carcinoma in situ skos:exactMatch DOID:8791 breast carcinoma in situ semapv:UnspecifiedMatching MONDO:0004658 breast carcinoma in situ skos:exactMatch NCIT:C3641 Stage 0 Breast Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0004658 breast carcinoma in situ skos:exactMatch SCTID:189336000 semapv:UnspecifiedMatching MONDO:0004658 breast carcinoma in situ skos:exactMatch UMLS:C0154084 semapv:UnspecifiedMatching MONDO:0004658 breast carcinoma in situ skos:exactMatch mesh:D000071960 semapv:UnspecifiedMatching MONDO:0004659 eye carcinoma in situ skos:exactMatch DOID:8792 eye carcinoma in situ semapv:UnspecifiedMatching MONDO:0004659 eye carcinoma in situ skos:exactMatch SCTID:92590009 semapv:UnspecifiedMatching MONDO:0004659 eye carcinoma in situ skos:exactMatch UMLS:C0154094 semapv:UnspecifiedMatching MONDO:0004660 lung carcinoma in situ skos:exactMatch DOID:8800 lung carcinoma in situ semapv:UnspecifiedMatching MONDO:0004660 lung carcinoma in situ skos:exactMatch NCIT:C27467 Stage 0 Lung Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0004660 lung carcinoma in situ skos:exactMatch SCTID:92649001 semapv:UnspecifiedMatching MONDO:0004660 lung carcinoma in situ skos:exactMatch UMLS:C0685053 semapv:UnspecifiedMatching MONDO:0004661 trachea carcinoma in situ skos:exactMatch DOID:8802 trachea carcinoma in situ semapv:UnspecifiedMatching MONDO:0004661 trachea carcinoma in situ skos:exactMatch ICD10CM:D02.1 Carcinoma in situ of trachea semapv:UnspecifiedMatching MONDO:0004661 trachea carcinoma in situ skos:exactMatch NCIT:C3639 Tracheal Carcinoma In Situ semapv:UnspecifiedMatching MONDO:0004661 trachea carcinoma in situ skos:exactMatch SCTID:92772005 semapv:UnspecifiedMatching MONDO:0004661 trachea carcinoma in situ skos:exactMatch UMLS:C0154070 semapv:UnspecifiedMatching MONDO:0004662 heterophyiasis skos:exactMatch DOID:882 heterophyiasis semapv:UnspecifiedMatching MONDO:0004662 heterophyiasis skos:exactMatch NCIT:C128389 Heterophyiasis semapv:UnspecifiedMatching MONDO:0004662 heterophyiasis skos:exactMatch SCTID:22905009 semapv:UnspecifiedMatching MONDO:0004662 heterophyiasis skos:exactMatch UMLS:C0152071 semapv:UnspecifiedMatching MONDO:0004663 colon carcinoma in situ skos:exactMatch DOID:8826 colon carcinoma in situ semapv:UnspecifiedMatching MONDO:0004663 colon carcinoma in situ skos:exactMatch ICD10CM:D01.0 Carcinoma in situ of colon semapv:UnspecifiedMatching MONDO:0004663 colon carcinoma in situ skos:exactMatch NCIT:C3638 Stage 0 Colon Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0004663 colon carcinoma in situ skos:exactMatch SCTID:92568009 semapv:UnspecifiedMatching MONDO:0004663 colon carcinoma in situ skos:exactMatch UMLS:C0154061 semapv:UnspecifiedMatching MONDO:0004664 helminthiasis skos:exactMatch DOID:883 parasitic helminthiasis infectious disease semapv:UnspecifiedMatching MONDO:0004664 helminthiasis skos:exactMatch ICD10CM:B65-B83 Helminthiases (B65-B83) semapv:UnspecifiedMatching MONDO:0004664 helminthiasis skos:exactMatch NCIT:C84751 Helminthiasis semapv:UnspecifiedMatching MONDO:0004664 helminthiasis skos:exactMatch SCTID:27601005 semapv:UnspecifiedMatching MONDO:0004664 helminthiasis skos:exactMatch UMLS:C0018889 semapv:UnspecifiedMatching MONDO:0004664 helminthiasis skos:exactMatch mesh:D006373 semapv:UnspecifiedMatching MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch DOID:8838 Hodgkin's lymphoma, nodular sclerosis semapv:UnspecifiedMatching MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch NCIT:C3518 Nodular Sclerosis Classic Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma skos:exactMatch SCTID:118608000 semapv:UnspecifiedMatching MONDO:0004666 metagonimiasis skos:exactMatch DOID:884 metagonimiasis semapv:UnspecifiedMatching MONDO:0004666 metagonimiasis skos:exactMatch NCIT:C128390 Metagonimiasis semapv:UnspecifiedMatching MONDO:0004666 metagonimiasis skos:exactMatch SCTID:37832003 semapv:UnspecifiedMatching MONDO:0004666 metagonimiasis skos:exactMatch UMLS:C0025530 semapv:UnspecifiedMatching MONDO:0004667 sublingual gland cancer skos:exactMatch DOID:8849 sublingual gland cancer semapv:UnspecifiedMatching MONDO:0004667 sublingual gland cancer skos:exactMatch NCIT:C3527 Malignant Sublingual Gland Neoplasm semapv:UnspecifiedMatching MONDO:0004667 sublingual gland cancer skos:exactMatch SCTID:363381003 semapv:UnspecifiedMatching MONDO:0004667 sublingual gland cancer skos:exactMatch UMLS:C0153361 semapv:UnspecifiedMatching MONDO:0004668 fascioliasis skos:exactMatch DOID:885 fascioliasis semapv:UnspecifiedMatching MONDO:0004668 fascioliasis skos:exactMatch ICD10CM:B66.3 Fascioliasis semapv:UnspecifiedMatching MONDO:0004668 fascioliasis skos:exactMatch NCIT:C128387 Fasciolosis semapv:UnspecifiedMatching MONDO:0004668 fascioliasis skos:exactMatch SCTID:82308007 semapv:UnspecifiedMatching MONDO:0004668 fascioliasis skos:exactMatch mesh:D005211 semapv:UnspecifiedMatching MONDO:0004669 salivary gland cancer skos:exactMatch DOID:8850 salivary gland cancer semapv:UnspecifiedMatching MONDO:0004669 salivary gland cancer skos:exactMatch ICD10CM:C08 Malignant neoplasm of other and unspecified major salivary glands semapv:UnspecifiedMatching MONDO:0004669 salivary gland cancer skos:exactMatch NCIT:C3811 Malignant Salivary Gland Neoplasm semapv:UnspecifiedMatching MONDO:0004669 salivary gland cancer skos:exactMatch SCTID:255072001 semapv:UnspecifiedMatching MONDO:0004669 salivary gland cancer skos:exactMatch mesh:D012468 semapv:UnspecifiedMatching MONDO:0004670 lupus erythematosus skos:exactMatch DOID:8857 lupus erythematosus semapv:UnspecifiedMatching MONDO:0004670 lupus erythematosus skos:exactMatch ICD10CM:L93 Lupus erythematosus semapv:UnspecifiedMatching MONDO:0004670 lupus erythematosus skos:exactMatch NCIT:C27153 Lupus Erythematosus semapv:UnspecifiedMatching MONDO:0004670 lupus erythematosus skos:exactMatch SCTID:200936003 semapv:UnspecifiedMatching MONDO:0004670 lupus erythematosus skos:exactMatch UMLS:C0409974 semapv:UnspecifiedMatching MONDO:0004671 penis carcinoma in situ skos:exactMatch DOID:8872 penis carcinoma in situ semapv:UnspecifiedMatching MONDO:0004671 penis carcinoma in situ skos:exactMatch NCIT:C27790 Penile Carcinoma In Situ semapv:UnspecifiedMatching MONDO:0004671 penis carcinoma in situ skos:exactMatch SCTID:398831006 semapv:UnspecifiedMatching MONDO:0004671 penis carcinoma in situ skos:exactMatch UMLS:C0154089 semapv:UnspecifiedMatching MONDO:0004672 fasciolopsiasis skos:exactMatch DOID:888 fasciolopsiasis semapv:UnspecifiedMatching MONDO:0004672 fasciolopsiasis skos:exactMatch ICD10CM:B66.5 Fasciolopsiasis semapv:UnspecifiedMatching MONDO:0004672 fasciolopsiasis skos:exactMatch NCIT:C128388 Fasciolopsiasis semapv:UnspecifiedMatching MONDO:0004672 fasciolopsiasis skos:exactMatch SCTID:54266002 semapv:UnspecifiedMatching MONDO:0004672 fasciolopsiasis skos:exactMatch UMLS:C0015656 semapv:UnspecifiedMatching MONDO:0004673 lower lip cancer skos:exactMatch DOID:8883 lower lip cancer semapv:UnspecifiedMatching MONDO:0004673 lower lip cancer skos:exactMatch SCTID:363373004 semapv:UnspecifiedMatching MONDO:0004673 lower lip cancer skos:exactMatch UMLS:C0432520 semapv:UnspecifiedMatching MONDO:0004674 chorioretinitis skos:exactMatch DOID:8886 chorioretinitis semapv:UnspecifiedMatching MONDO:0004674 chorioretinitis skos:exactMatch NCIT:C110923 Chorioretinitis semapv:UnspecifiedMatching MONDO:0004674 chorioretinitis skos:exactMatch SCTID:46627006 semapv:UnspecifiedMatching MONDO:0004674 chorioretinitis skos:exactMatch UMLS:C0008513 semapv:UnspecifiedMatching MONDO:0004674 chorioretinitis skos:exactMatch mesh:D002825 semapv:UnspecifiedMatching MONDO:0004675 mitochondrial encephalomyopathy skos:exactMatch DOID:890 mitochondrial encephalomyopathy semapv:UnspecifiedMatching MONDO:0004675 mitochondrial encephalomyopathy skos:exactMatch SCTID:447292006 semapv:UnspecifiedMatching MONDO:0004675 mitochondrial encephalomyopathy skos:exactMatch UMLS:C0162666 semapv:UnspecifiedMatching MONDO:0004675 mitochondrial encephalomyopathy skos:exactMatch mesh:D017237 semapv:UnspecifiedMatching MONDO:0004677 tinea nigra skos:exactMatch DOID:8912 tinea nigra semapv:UnspecifiedMatching MONDO:0004677 tinea nigra skos:exactMatch ICD10CM:B36.1 Tinea nigra semapv:UnspecifiedMatching MONDO:0004677 tinea nigra skos:exactMatch SCTID:183342005 semapv:UnspecifiedMatching MONDO:0004677 tinea nigra skos:exactMatch UMLS:C0152067 semapv:UnspecifiedMatching MONDO:0004678 dermatophytosis skos:exactMatch DOID:8913 dermatophytosis semapv:UnspecifiedMatching MONDO:0004678 dermatophytosis skos:exactMatch ICD10CM:B35 Dermatophytosis semapv:UnspecifiedMatching MONDO:0004678 dermatophytosis skos:exactMatch NCIT:C26745 Dermatophytosis semapv:UnspecifiedMatching MONDO:0004678 dermatophytosis skos:exactMatch SCTID:47382004 semapv:UnspecifiedMatching MONDO:0004678 dermatophytosis skos:exactMatch UMLS:C0011636 semapv:UnspecifiedMatching MONDO:0004679 leukoplakia of vagina skos:exactMatch DOID:8920 leukoplakia of vagina semapv:UnspecifiedMatching MONDO:0004679 leukoplakia of vagina skos:exactMatch ICD10CM:N89.4 Leukoplakia of vagina semapv:UnspecifiedMatching MONDO:0004679 leukoplakia of vagina skos:exactMatch NCIT:C3663 Vaginal Leukoplakia semapv:UnspecifiedMatching MONDO:0004679 leukoplakia of vagina skos:exactMatch SCTID:111420009 semapv:UnspecifiedMatching MONDO:0004679 leukoplakia of vagina skos:exactMatch UMLS:C0156385 semapv:UnspecifiedMatching MONDO:0004680 primary thrombocytopenia skos:exactMatch DOID:8925 primary thrombocytopenia semapv:UnspecifiedMatching MONDO:0004680 primary thrombocytopenia skos:exactMatch SCTID:267534000 semapv:UnspecifiedMatching MONDO:0004680 primary thrombocytopenia skos:exactMatch UMLS:C0701157 semapv:UnspecifiedMatching MONDO:0004681 learning disability skos:exactMatch DOID:8927 learning disability semapv:UnspecifiedMatching MONDO:0004681 learning disability skos:exactMatch NCIT:C89334 Learning Disorder semapv:UnspecifiedMatching MONDO:0004681 learning disability skos:exactMatch SCTID:1855002 semapv:UnspecifiedMatching MONDO:0004681 learning disability skos:exactMatch UMLS:C0751265 semapv:UnspecifiedMatching MONDO:0004681 learning disability skos:exactMatch mesh:D007859 semapv:UnspecifiedMatching MONDO:0004682 retromolar area cancer skos:exactMatch DOID:8930 retromolar area cancer semapv:UnspecifiedMatching MONDO:0004682 retromolar area cancer skos:exactMatch ICD10CM:C06.2 Malignant neoplasm of retromolar area semapv:UnspecifiedMatching MONDO:0004682 retromolar area cancer skos:exactMatch SCTID:363391009 semapv:UnspecifiedMatching MONDO:0004684 plantar fibromatosis skos:exactMatch DOID:8936 plantar fascial fibromatosis semapv:UnspecifiedMatching MONDO:0004684 plantar fibromatosis skos:exactMatch NCIT:C4680 Plantar Fibromatosis semapv:UnspecifiedMatching MONDO:0004684 plantar fibromatosis skos:exactMatch Orphanet:199251 Ledderhose disease semapv:UnspecifiedMatching MONDO:0004684 plantar fibromatosis skos:exactMatch SCTID:13370002 semapv:UnspecifiedMatching MONDO:0004684 plantar fibromatosis skos:exactMatch mesh:C537000 semapv:UnspecifiedMatching MONDO:0004685 Waldeyer's ring cancer skos:exactMatch DOID:8937 Waldeyer's ring cancer semapv:UnspecifiedMatching MONDO:0004685 Waldeyer's ring cancer skos:exactMatch ICD10CM:C14.2 Malignant neoplasm of Waldeyer's ring semapv:UnspecifiedMatching MONDO:0004685 Waldeyer's ring cancer skos:exactMatch SCTID:187716008 semapv:UnspecifiedMatching MONDO:0004685 Waldeyer's ring cancer skos:exactMatch UMLS:C0153406 semapv:UnspecifiedMatching MONDO:0004686 lattice corneal dystrophy skos:exactMatch DOID:8943 lattice corneal dystrophy semapv:UnspecifiedMatching MONDO:0004686 lattice corneal dystrophy skos:exactMatch SCTID:1192004 semapv:UnspecifiedMatching MONDO:0004686 lattice corneal dystrophy skos:exactMatch UMLS:C0155127 semapv:UnspecifiedMatching MONDO:0004687 severe nonproliferative diabetic retinopathy skos:exactMatch DOID:8946 severe nonproliferative diabetic retinopathy semapv:UnspecifiedMatching MONDO:0004687 severe nonproliferative diabetic retinopathy skos:exactMatch SCTID:312905005 semapv:UnspecifiedMatching MONDO:0004687 severe nonproliferative diabetic retinopathy skos:exactMatch UMLS:C0730278 semapv:UnspecifiedMatching MONDO:0004689 inborn metal metabolism disorder skos:exactMatch DOID:896 metal metabolism disorder semapv:UnspecifiedMatching MONDO:0004689 inborn metal metabolism disorder skos:exactMatch UMLS:C0025534 semapv:UnspecifiedMatching MONDO:0004689 inborn metal metabolism disorder skos:exactMatch mesh:D008664 semapv:UnspecifiedMatching MONDO:0004690 tonsillar fossa cancer skos:exactMatch DOID:8969 tonsillar fossa cancer semapv:UnspecifiedMatching MONDO:0004690 tonsillar fossa cancer skos:exactMatch ICD10CM:C09.0 Malignant neoplasm of tonsillar fossa semapv:UnspecifiedMatching MONDO:0004690 tonsillar fossa cancer skos:exactMatch SCTID:363394001 semapv:UnspecifiedMatching MONDO:0004690 tonsillar fossa cancer skos:exactMatch UMLS:C0153384 semapv:UnspecifiedMatching MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch DOID:898 autosomal dominant polycystic kidney disease semapv:UnspecifiedMatching MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch NCIT:C84578 Autosomal Dominant Polycystic Kidney Disease semapv:UnspecifiedMatching MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:UnspecifiedMatching MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch SCTID:765330003 semapv:UnspecifiedMatching MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch UMLS:C0085413 semapv:UnspecifiedMatching MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch mesh:D016891 semapv:UnspecifiedMatching MONDO:0004693 squamous carcinoma in situ skos:exactMatch NCIT:C27093 Stage 0 Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004693 squamous carcinoma in situ skos:exactMatch UMLS:C0334245 semapv:UnspecifiedMatching MONDO:0004694 hepatopulmonary syndrome skos:exactMatch DOID:900 hepatopulmonary syndrome semapv:UnspecifiedMatching MONDO:0004694 hepatopulmonary syndrome skos:exactMatch ICD10CM:K76.81 Hepatopulmonary syndrome semapv:UnspecifiedMatching MONDO:0004694 hepatopulmonary syndrome skos:exactMatch SCTID:371067004 semapv:UnspecifiedMatching MONDO:0004694 hepatopulmonary syndrome skos:exactMatch UMLS:C0600452 semapv:UnspecifiedMatching MONDO:0004694 hepatopulmonary syndrome skos:exactMatch mesh:D020065 semapv:UnspecifiedMatching MONDO:0004695 liver lymphoma skos:exactMatch DOID:901 liver lymphoma semapv:UnspecifiedMatching MONDO:0004695 liver lymphoma skos:exactMatch NCIT:C4949 Liver Lymphoma semapv:UnspecifiedMatching MONDO:0004695 liver lymphoma skos:exactMatch UMLS:C1112746 semapv:UnspecifiedMatching MONDO:0004696 larynx carcinoma in situ skos:exactMatch DOID:9011 larynx carcinoma in situ semapv:UnspecifiedMatching MONDO:0004696 larynx carcinoma in situ skos:exactMatch ICD10CM:D02.0 Carcinoma in situ of larynx semapv:UnspecifiedMatching MONDO:0004696 larynx carcinoma in situ skos:exactMatch NCIT:C9100 Stage 0 Laryngeal Cancer AJCC v6, v7, and V8 semapv:UnspecifiedMatching MONDO:0004696 larynx carcinoma in situ skos:exactMatch SCTID:92634009 semapv:UnspecifiedMatching MONDO:0004696 larynx carcinoma in situ skos:exactMatch UMLS:C0154069 semapv:UnspecifiedMatching MONDO:0004697 esophageal leukoplakia skos:exactMatch DOID:9021 esophageal leukoplakia semapv:UnspecifiedMatching MONDO:0004697 esophageal leukoplakia skos:exactMatch NCIT:C3953 Esophageal Leukoplakia semapv:UnspecifiedMatching MONDO:0004697 esophageal leukoplakia skos:exactMatch SCTID:89057003 semapv:UnspecifiedMatching MONDO:0004697 esophageal leukoplakia skos:exactMatch UMLS:C0267095 semapv:UnspecifiedMatching MONDO:0004698 intestine carcinoma in situ skos:exactMatch DOID:9024 intestine carcinoma in situ semapv:UnspecifiedMatching MONDO:0004698 intestine carcinoma in situ skos:exactMatch SCTID:92617001 semapv:UnspecifiedMatching MONDO:0004698 intestine carcinoma in situ skos:exactMatch UMLS:C0685941 semapv:UnspecifiedMatching MONDO:0004699 gastrointestinal lymphoma skos:exactMatch DOID:903 gastrointestinal lymphoma semapv:UnspecifiedMatching MONDO:0004699 gastrointestinal lymphoma skos:exactMatch NCIT:C38162 Digestive System Lymphoma semapv:UnspecifiedMatching MONDO:0004699 gastrointestinal lymphoma skos:exactMatch SCTID:449072004 semapv:UnspecifiedMatching MONDO:0004699 gastrointestinal lymphoma skos:exactMatch UMLS:C0740372 semapv:UnspecifiedMatching MONDO:0004700 parotid gland cancer skos:exactMatch DOID:9036 parotid gland cancer semapv:UnspecifiedMatching MONDO:0004700 parotid gland cancer skos:exactMatch NCIT:C3525 Malignant Parotid Gland Neoplasm semapv:UnspecifiedMatching MONDO:0004700 parotid gland cancer skos:exactMatch SCTID:363379000 semapv:UnspecifiedMatching MONDO:0004700 parotid gland cancer skos:exactMatch UMLS:C0747273 semapv:UnspecifiedMatching MONDO:0004700 parotid gland cancer skos:exactMatch mesh:D010307 semapv:UnspecifiedMatching MONDO:0004701 uterine polyp skos:exactMatch DOID:9042 polyp of corpus uteri semapv:UnspecifiedMatching MONDO:0004701 uterine polyp skos:exactMatch ICD10CM:N84.0 Polyp of corpus uteri semapv:UnspecifiedMatching MONDO:0004701 uterine polyp skos:exactMatch NCIT:C3662 Uterine Polyp semapv:UnspecifiedMatching MONDO:0004701 uterine polyp skos:exactMatch SCTID:11314008 semapv:UnspecifiedMatching MONDO:0004701 uterine polyp skos:exactMatch UMLS:C0156369 semapv:UnspecifiedMatching MONDO:0004702 uterine cervix leukoplakia skos:exactMatch DOID:9043 uterine cervix leukoplakia semapv:UnspecifiedMatching MONDO:0004702 uterine cervix leukoplakia skos:exactMatch ICD10CM:N88.0 Leukoplakia of cervix uteri semapv:UnspecifiedMatching MONDO:0004702 uterine cervix leukoplakia skos:exactMatch NCIT:C3976 Cervical Leukoplakia semapv:UnspecifiedMatching MONDO:0004702 uterine cervix leukoplakia skos:exactMatch SCTID:50923006 semapv:UnspecifiedMatching MONDO:0004702 uterine cervix leukoplakia skos:exactMatch UMLS:C0269194 semapv:UnspecifiedMatching MONDO:0004703 bladder carcinoma in situ skos:exactMatch DOID:9053 bladder carcinoma in situ semapv:UnspecifiedMatching MONDO:0004703 bladder carcinoma in situ skos:exactMatch ICD10CM:D09.0 Carcinoma in situ of bladder semapv:UnspecifiedMatching MONDO:0004703 bladder carcinoma in situ skos:exactMatch NCIT:C3644 Stage 0is Bladder Urothelial Carcinoma AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0004703 bladder carcinoma in situ skos:exactMatch SCTID:92546004 semapv:UnspecifiedMatching MONDO:0004703 bladder carcinoma in situ skos:exactMatch UMLS:C0154091 semapv:UnspecifiedMatching MONDO:0004705 liver solitary fibrous tumor skos:exactMatch DOID:907 liver fibroma semapv:UnspecifiedMatching MONDO:0004705 liver solitary fibrous tumor skos:exactMatch NCIT:C5752 Liver Solitary Fibrous Tumor semapv:UnspecifiedMatching MONDO:0004705 liver solitary fibrous tumor skos:exactMatch UMLS:C1333965 semapv:UnspecifiedMatching MONDO:0004706 discoid lupus erythematosus of eyelid skos:exactMatch DOID:9076 discoid lupus erythematosus of eyelid semapv:UnspecifiedMatching MONDO:0004706 discoid lupus erythematosus of eyelid skos:exactMatch SCTID:79291003 semapv:UnspecifiedMatching MONDO:0004706 discoid lupus erythematosus of eyelid skos:exactMatch UMLS:C0155180 semapv:UnspecifiedMatching MONDO:0004707 anal canal carcinoma in situ skos:exactMatch DOID:9087 anal carcinoma in situ semapv:UnspecifiedMatching MONDO:0004707 anal canal carcinoma in situ skos:exactMatch NCIT:C7794 Stage 0 Anal Canal Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0004707 anal canal carcinoma in situ skos:exactMatch SCTID:92531006 semapv:UnspecifiedMatching MONDO:0004707 anal canal carcinoma in situ skos:exactMatch UMLS:C0154064 semapv:UnspecifiedMatching MONDO:0004707 anal canal carcinoma in situ skos:exactMatch UMLS:C2242854 semapv:UnspecifiedMatching MONDO:0004708 esophagus carcinoma in situ skos:exactMatch DOID:9095 esophagus carcinoma in situ semapv:UnspecifiedMatching MONDO:0004708 esophagus carcinoma in situ skos:exactMatch ICD10CM:D00.1 Carcinoma in situ of esophagus semapv:UnspecifiedMatching MONDO:0004708 esophagus carcinoma in situ skos:exactMatch NCIT:C89771 Stage 0 Esophageal Cancer AJCC v7 semapv:UnspecifiedMatching MONDO:0004708 esophagus carcinoma in situ skos:exactMatch SCTID:92585006 semapv:UnspecifiedMatching MONDO:0004708 esophagus carcinoma in situ skos:exactMatch UMLS:C0154059 semapv:UnspecifiedMatching MONDO:0004709 occipital lobe neoplasm skos:exactMatch DOID:910 occipital lobe neoplasm semapv:UnspecifiedMatching MONDO:0004709 occipital lobe neoplasm skos:exactMatch ICD10CM:C71.4 Malignant neoplasm of occipital lobe semapv:UnspecifiedMatching MONDO:0004709 occipital lobe neoplasm skos:exactMatch NCIT:C5574 Occipital Lobe Neoplasm semapv:UnspecifiedMatching MONDO:0004709 occipital lobe neoplasm skos:exactMatch SCTID:126957005 semapv:UnspecifiedMatching MONDO:0004709 occipital lobe neoplasm skos:exactMatch UMLS:C1263889 semapv:UnspecifiedMatching MONDO:0004710 uterus carcinoma in situ skos:exactMatch DOID:9108 uterus carcinoma in situ semapv:UnspecifiedMatching MONDO:0004710 uterus carcinoma in situ skos:exactMatch SCTID:92788005 semapv:UnspecifiedMatching MONDO:0004710 uterus carcinoma in situ skos:exactMatch UMLS:C0686237 semapv:UnspecifiedMatching MONDO:0004712 herpes simplex dermatitis skos:exactMatch DOID:9123 eczema herpeticum semapv:UnspecifiedMatching MONDO:0004712 herpes simplex dermatitis skos:exactMatch ICD10CM:B00.0 Eczema herpeticum semapv:UnspecifiedMatching MONDO:0004712 herpes simplex dermatitis skos:exactMatch NCIT:C35620 Herpes Simplex Dermatitis semapv:UnspecifiedMatching MONDO:0004712 herpes simplex dermatitis skos:exactMatch SCTID:186535001 semapv:UnspecifiedMatching MONDO:0004712 herpes simplex dermatitis skos:exactMatch UMLS:C0854331 semapv:UnspecifiedMatching MONDO:0004712 herpes simplex dermatitis skos:exactMatch mesh:D007617 semapv:UnspecifiedMatching MONDO:0004713 lower gum cancer skos:exactMatch DOID:9125 lower gum cancer semapv:UnspecifiedMatching MONDO:0004713 lower gum cancer skos:exactMatch SCTID:363384006 semapv:UnspecifiedMatching MONDO:0004713 lower gum cancer skos:exactMatch UMLS:C0432581 semapv:UnspecifiedMatching MONDO:0004714 atrophic muscular disease skos:exactMatch DOID:913 atrophic muscular disease semapv:UnspecifiedMatching MONDO:0004714 atrophic muscular disease skos:exactMatch NCIT:C84574 Atrophic Muscular Disorder semapv:UnspecifiedMatching MONDO:0004715 liver carcinoma in situ skos:exactMatch DOID:9132 liver carcinoma in situ semapv:UnspecifiedMatching MONDO:0004715 liver carcinoma in situ skos:exactMatch ICD10CM:D01.5 Carcinoma in situ of liver, gallbladder and bile ducts semapv:UnspecifiedMatching MONDO:0004715 liver carcinoma in situ skos:exactMatch SCTID:92644006 semapv:UnspecifiedMatching MONDO:0004715 liver carcinoma in situ skos:exactMatch UMLS:C0345908 semapv:UnspecifiedMatching MONDO:0004716 stomach carcinoma in situ skos:exactMatch DOID:9138 stomach carcinoma in situ semapv:UnspecifiedMatching MONDO:0004716 stomach carcinoma in situ skos:exactMatch ICD10CM:D00.2 Carcinoma in situ of stomach semapv:UnspecifiedMatching MONDO:0004716 stomach carcinoma in situ skos:exactMatch NCIT:C7788 Stage 0 Gastric Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0004716 stomach carcinoma in situ skos:exactMatch SCTID:92756002 semapv:UnspecifiedMatching MONDO:0004716 stomach carcinoma in situ skos:exactMatch UMLS:C0154060 semapv:UnspecifiedMatching MONDO:0004717 peliosis hepatis skos:exactMatch DOID:914 peliosis hepatis semapv:UnspecifiedMatching MONDO:0004717 peliosis hepatis skos:exactMatch ICD10CM:K76.4 Peliosis hepatis semapv:UnspecifiedMatching MONDO:0004717 peliosis hepatis skos:exactMatch SCTID:58008004 semapv:UnspecifiedMatching MONDO:0004717 peliosis hepatis skos:exactMatch UMLS:C0030781 semapv:UnspecifiedMatching MONDO:0004717 peliosis hepatis skos:exactMatch mesh:D010382 semapv:UnspecifiedMatching MONDO:0004718 xeroderma of eyelid skos:exactMatch DOID:9140 xeroderma of eyelid semapv:UnspecifiedMatching MONDO:0004718 xeroderma of eyelid skos:exactMatch SCTID:55846006 semapv:UnspecifiedMatching MONDO:0004718 xeroderma of eyelid skos:exactMatch UMLS:C0155179 semapv:UnspecifiedMatching MONDO:0004719 hard palate cancer skos:exactMatch DOID:9149 hard palate cancer semapv:UnspecifiedMatching MONDO:0004719 hard palate cancer skos:exactMatch ICD10CM:C05.0 Malignant neoplasm of hard palate semapv:UnspecifiedMatching MONDO:0004719 hard palate cancer skos:exactMatch NCIT:C3528 Malignant Hard Palate Neoplasm semapv:UnspecifiedMatching MONDO:0004719 hard palate cancer skos:exactMatch SCTID:363387004 semapv:UnspecifiedMatching MONDO:0004719 hard palate cancer skos:exactMatch UMLS:C0153375 semapv:UnspecifiedMatching MONDO:0004720 variola minor infection skos:exactMatch DOID:9153 variola minor semapv:UnspecifiedMatching MONDO:0004720 variola minor infection skos:exactMatch NCIT:C34365 Alastrim semapv:UnspecifiedMatching MONDO:0004720 variola minor infection skos:exactMatch SCTID:72294005 semapv:UnspecifiedMatching MONDO:0004720 variola minor infection skos:exactMatch UMLS:C0001906 semapv:UnspecifiedMatching MONDO:0004723 liver leiomyoma skos:exactMatch DOID:917 liver leiomyoma semapv:UnspecifiedMatching MONDO:0004723 liver leiomyoma skos:exactMatch NCIT:C5753 Liver Leiomyoma semapv:UnspecifiedMatching MONDO:0004723 liver leiomyoma skos:exactMatch UMLS:C1333968 semapv:UnspecifiedMatching MONDO:0004724 submandibular gland cancer skos:exactMatch DOID:9173 submandibular gland cancer semapv:UnspecifiedMatching MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C8396 Submandibular Gland Carcinoma semapv:UnspecifiedMatching MONDO:0004724 submandibular gland cancer skos:exactMatch SCTID:363380002 semapv:UnspecifiedMatching MONDO:0004724 submandibular gland cancer skos:exactMatch UMLS:C0153360 semapv:UnspecifiedMatching MONDO:0004725 rectum carcinoma in situ skos:exactMatch DOID:9174 rectum carcinoma in situ semapv:UnspecifiedMatching MONDO:0004725 rectum carcinoma in situ skos:exactMatch ICD10CM:D01.2 Carcinoma in situ of rectum semapv:UnspecifiedMatching MONDO:0004725 rectum carcinoma in situ skos:exactMatch NCIT:C4853 Stage 0 Rectal Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO:0004725 rectum carcinoma in situ skos:exactMatch SCTID:308879003 semapv:UnspecifiedMatching MONDO:0004725 rectum carcinoma in situ skos:exactMatch UMLS:C0154062 semapv:UnspecifiedMatching MONDO:0004726 liver inflammatory myofibroblastic tumor skos:exactMatch DOID:918 liver inflammatory pseudotumor semapv:UnspecifiedMatching MONDO:0004726 liver inflammatory myofibroblastic tumor skos:exactMatch NCIT:C5858 Liver Inflammatory Myofibroblastic Tumor semapv:UnspecifiedMatching MONDO:0004726 liver inflammatory myofibroblastic tumor skos:exactMatch SCTID:717329009 semapv:UnspecifiedMatching MONDO:0004726 liver inflammatory myofibroblastic tumor skos:exactMatch UMLS:C1333967 semapv:UnspecifiedMatching MONDO:0004727 vestibule of mouth cancer skos:exactMatch DOID:9188 vestibule of mouth cancer semapv:UnspecifiedMatching MONDO:0004727 vestibule of mouth cancer skos:exactMatch ICD10CM:C06.1 Malignant neoplasm of vestibule of mouth semapv:UnspecifiedMatching MONDO:0004727 vestibule of mouth cancer skos:exactMatch SCTID:187658004 semapv:UnspecifiedMatching MONDO:0004727 vestibule of mouth cancer skos:exactMatch UMLS:C0153374 semapv:UnspecifiedMatching MONDO:0004728 diabetic macular edema skos:exactMatch DOID:9191 diabetic macular edema semapv:UnspecifiedMatching MONDO:0004728 diabetic macular edema skos:exactMatch SCTID:312912001 semapv:UnspecifiedMatching MONDO:0004728 diabetic macular edema skos:exactMatch UMLS:C0730285 semapv:UnspecifiedMatching MONDO:0004729 dyskinesia of esophagus skos:exactMatch DOID:9192 dyskinesia of esophagus semapv:UnspecifiedMatching MONDO:0004729 dyskinesia of esophagus skos:exactMatch ICD10CM:K22.4 Dyskinesia of esophagus semapv:UnspecifiedMatching MONDO:0004729 dyskinesia of esophagus skos:exactMatch SCTID:266434009 semapv:UnspecifiedMatching MONDO:0004729 dyskinesia of esophagus skos:exactMatch UMLS:C0014858 semapv:UnspecifiedMatching MONDO:0004729 dyskinesia of esophagus skos:exactMatch mesh:D015154 semapv:UnspecifiedMatching MONDO:0004730 speech disorder skos:exactMatch DOID:92 speech disorder semapv:UnspecifiedMatching MONDO:0004730 speech disorder skos:exactMatch NCIT:C5041 Speech Disorder semapv:UnspecifiedMatching MONDO:0004730 speech disorder skos:exactMatch SCTID:47004009 semapv:UnspecifiedMatching MONDO:0004730 speech disorder skos:exactMatch UMLS:C0037822 semapv:UnspecifiedMatching MONDO:0004730 speech disorder skos:exactMatch mesh:D013064 semapv:UnspecifiedMatching MONDO:0004731 central sleep apnea syndrome skos:exactMatch DOID:9220 central sleep apnea semapv:UnspecifiedMatching MONDO:0004731 central sleep apnea syndrome skos:exactMatch NCIT:C27169 Central Sleep Apnea Syndrome semapv:UnspecifiedMatching MONDO:0004731 central sleep apnea syndrome skos:exactMatch SCTID:27405005 semapv:UnspecifiedMatching MONDO:0004731 central sleep apnea syndrome skos:exactMatch UMLS:C3887547 semapv:UnspecifiedMatching MONDO:0004731 central sleep apnea syndrome skos:exactMatch mesh:D020182 semapv:UnspecifiedMatching MONDO:0004732 kidney carcinoma in situ skos:exactMatch DOID:9234 kidney carcinoma in situ semapv:UnspecifiedMatching MONDO:0004732 kidney carcinoma in situ skos:exactMatch SCTID:92624000 semapv:UnspecifiedMatching MONDO:0004732 kidney carcinoma in situ skos:exactMatch UMLS:C0686172 semapv:UnspecifiedMatching MONDO:0004733 pyriform sinus cancer skos:exactMatch DOID:9235 pyriform sinus cancer semapv:UnspecifiedMatching MONDO:0004733 pyriform sinus cancer skos:exactMatch ICD10CM:C12 Malignant neoplasm of pyriform sinus semapv:UnspecifiedMatching MONDO:0004733 pyriform sinus cancer skos:exactMatch NCIT:C3531 Malignant Pyriform Fossa Neoplasm semapv:UnspecifiedMatching MONDO:0004733 pyriform sinus cancer skos:exactMatch SCTID:363401000 semapv:UnspecifiedMatching MONDO:0004733 pyriform sinus cancer skos:exactMatch UMLS:C0153400 semapv:UnspecifiedMatching MONDO:0004736 inborn disorder of amino acid metabolism skos:exactMatch DOID:9252 amino acid metabolic disorder semapv:UnspecifiedMatching MONDO:0004736 inborn disorder of amino acid metabolism skos:exactMatch SCTID:42930003 semapv:UnspecifiedMatching MONDO:0004736 inborn disorder of amino acid metabolism skos:exactMatch mesh:D000592 semapv:UnspecifiedMatching MONDO:0004737 homocystinuria skos:exactMatch DOID:9263 homocystinuria semapv:UnspecifiedMatching MONDO:0004737 homocystinuria skos:exactMatch ICD10CM:E72.11 Homocystinuria semapv:UnspecifiedMatching MONDO:0004737 homocystinuria skos:exactMatch NCIT:C84765 Homocystinuria semapv:UnspecifiedMatching MONDO:0004737 homocystinuria skos:exactMatch SCTID:11282001 semapv:UnspecifiedMatching MONDO:0004737 homocystinuria skos:exactMatch UMLS:C0019880 semapv:UnspecifiedMatching MONDO:0004737 homocystinuria skos:exactMatch mesh:D006712 semapv:UnspecifiedMatching MONDO:0004739 urea cycle disorder skos:exactMatch DOID:9267 urea cycle disorder semapv:UnspecifiedMatching MONDO:0004739 urea cycle disorder skos:exactMatch NCIT:C84785 Urea Cycle Metabolism Disorder semapv:UnspecifiedMatching MONDO:0004739 urea cycle disorder skos:exactMatch Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification semapv:UnspecifiedMatching MONDO:0004739 urea cycle disorder skos:exactMatch SCTID:36444000 semapv:UnspecifiedMatching MONDO:0004739 urea cycle disorder skos:exactMatch UMLS:C0154246 semapv:UnspecifiedMatching MONDO:0004739 urea cycle disorder skos:exactMatch mesh:D056806 semapv:UnspecifiedMatching MONDO:0004741 tyrosinemia skos:exactMatch DOID:9275 tyrosinemia semapv:UnspecifiedMatching MONDO:0004741 tyrosinemia skos:exactMatch ICD10CM:E70.21 Tyrosinemia semapv:UnspecifiedMatching MONDO:0004741 tyrosinemia skos:exactMatch NCIT:C98640 Tyrosinemia semapv:UnspecifiedMatching MONDO:0004741 tyrosinemia skos:exactMatch OMIMPS:276700 semapv:UnspecifiedMatching MONDO:0004741 tyrosinemia skos:exactMatch SCTID:190694001 semapv:UnspecifiedMatching MONDO:0004741 tyrosinemia skos:exactMatch UMLS:C0268483 semapv:UnspecifiedMatching MONDO:0004741 tyrosinemia skos:exactMatch mesh:D020176 semapv:UnspecifiedMatching MONDO:0004742 primary cerebellar degeneration skos:exactMatch DOID:9277 primary cerebellar degeneration semapv:UnspecifiedMatching MONDO:0004742 primary cerebellar degeneration skos:exactMatch SCTID:23732000 semapv:UnspecifiedMatching MONDO:0004742 primary cerebellar degeneration skos:exactMatch UMLS:C0033132 semapv:UnspecifiedMatching MONDO:0004743 hyperhomocysteinemia skos:exactMatch DOID:9279 hyperhomocysteinemia semapv:UnspecifiedMatching MONDO:0004743 hyperhomocysteinemia skos:exactMatch NCIT:C84770 Hyperhomocysteinemia semapv:UnspecifiedMatching MONDO:0004743 hyperhomocysteinemia skos:exactMatch OMIM:603174 hyperhomocysteinemia semapv:UnspecifiedMatching MONDO:0004743 hyperhomocysteinemia skos:exactMatch SCTID:419503008 semapv:UnspecifiedMatching MONDO:0004743 hyperhomocysteinemia skos:exactMatch UMLS:C0598608 semapv:UnspecifiedMatching MONDO:0004743 hyperhomocysteinemia skos:exactMatch mesh:D020138 semapv:UnspecifiedMatching MONDO:0004744 borderline glaucoma skos:exactMatch DOID:9283 borderline glaucoma semapv:UnspecifiedMatching MONDO:0004744 borderline glaucoma skos:exactMatch SCTID:193531003 semapv:UnspecifiedMatching MONDO:0004744 borderline glaucoma skos:exactMatch UMLS:C1533674 semapv:UnspecifiedMatching MONDO:0004745 priapism skos:exactMatch DOID:9286 priapism semapv:UnspecifiedMatching MONDO:0004745 priapism skos:exactMatch ICD10CM:N48.3 Priapism semapv:UnspecifiedMatching MONDO:0004745 priapism skos:exactMatch Orphanet:140949 Low-flow priapism semapv:UnspecifiedMatching MONDO:0004745 priapism skos:exactMatch SCTID:6273006 semapv:UnspecifiedMatching MONDO:0004745 priapism skos:exactMatch UMLS:C0033117 semapv:UnspecifiedMatching MONDO:0004745 priapism skos:exactMatch mesh:D011317 semapv:UnspecifiedMatching MONDO:0004746 myopathy of extraocular muscle skos:exactMatch DOID:929 myopathy of extraocular muscle semapv:UnspecifiedMatching MONDO:0004746 myopathy of extraocular muscle skos:exactMatch SCTID:57130002 semapv:UnspecifiedMatching MONDO:0004746 myopathy of extraocular muscle skos:exactMatch UMLS:C0155286 semapv:UnspecifiedMatching MONDO:0004747 cleft lip skos:exactMatch DOID:9296 cleft lip semapv:UnspecifiedMatching MONDO:0004747 cleft lip skos:exactMatch NCIT:C87175 Cleft Lip semapv:UnspecifiedMatching MONDO:0004747 cleft lip skos:exactMatch SCTID:80281008 semapv:UnspecifiedMatching MONDO:0004747 cleft lip skos:exactMatch mesh:D002971 semapv:UnspecifiedMatching MONDO:0004748 lip disorder skos:exactMatch DOID:9297 lip disease semapv:UnspecifiedMatching MONDO:0004748 lip disorder skos:exactMatch NCIT:C26818 Lip Disorder semapv:UnspecifiedMatching MONDO:0004748 lip disorder skos:exactMatch SCTID:90678009 semapv:UnspecifiedMatching MONDO:0004748 lip disorder skos:exactMatch UMLS:C0023760 semapv:UnspecifiedMatching MONDO:0004748 lip disorder skos:exactMatch mesh:D008047 semapv:UnspecifiedMatching MONDO:0004749 myocardium cancer skos:exactMatch DOID:9299 myocardium cancer semapv:UnspecifiedMatching MONDO:0004749 myocardium cancer skos:exactMatch NCIT:C4569 Malignant Myocardial Neoplasm semapv:UnspecifiedMatching MONDO:0004749 myocardium cancer skos:exactMatch UMLS:C0346611 semapv:UnspecifiedMatching MONDO:0004750 language disorder skos:exactMatch DOID:93 language disorder semapv:UnspecifiedMatching MONDO:0004750 language disorder skos:exactMatch NCIT:C97155 Language Disorder semapv:UnspecifiedMatching MONDO:0004750 language disorder skos:exactMatch mesh:D007806 semapv:UnspecifiedMatching MONDO:0004751 disease of orbital part of eye adnexa skos:exactMatch DOID:930 orbital disease semapv:UnspecifiedMatching MONDO:0004751 disease of orbital part of eye adnexa skos:exactMatch UMLS:C0029182 semapv:UnspecifiedMatching MONDO:0004751 disease of orbital part of eye adnexa skos:exactMatch mesh:D009916 semapv:UnspecifiedMatching MONDO:0004752 neurofibroma of the heart skos:exactMatch DOID:9300 neurofibroma of the heart semapv:UnspecifiedMatching MONDO:0004752 neurofibroma of the heart skos:exactMatch NCIT:C5359 Cardiac Neurofibroma semapv:UnspecifiedMatching MONDO:0004752 neurofibroma of the heart skos:exactMatch UMLS:C1096349 semapv:UnspecifiedMatching MONDO:0004753 mechanical strabismus skos:exactMatch DOID:9306 mechanical strabismus semapv:UnspecifiedMatching MONDO:0004753 mechanical strabismus skos:exactMatch ICD10CM:H50.6 Mechanical strabismus semapv:UnspecifiedMatching MONDO:0004753 mechanical strabismus skos:exactMatch SCTID:5371001 semapv:UnspecifiedMatching MONDO:0004753 mechanical strabismus skos:exactMatch UMLS:C0152223 semapv:UnspecifiedMatching MONDO:0004754 rectal prolapse skos:exactMatch DOID:9307 rectal prolapse semapv:UnspecifiedMatching MONDO:0004754 rectal prolapse skos:exactMatch ICD10CM:K62.3 Rectal prolapse semapv:UnspecifiedMatching MONDO:0004754 rectal prolapse skos:exactMatch NCIT:C34973 Rectal Prolapse semapv:UnspecifiedMatching MONDO:0004754 rectal prolapse skos:exactMatch UMLS:C0034888 semapv:UnspecifiedMatching MONDO:0004754 rectal prolapse skos:exactMatch mesh:D012005 semapv:UnspecifiedMatching MONDO:0004755 monieziasis skos:exactMatch DOID:931 monieziasis semapv:UnspecifiedMatching MONDO:0004755 monieziasis skos:exactMatch UMLS:C0026414 semapv:UnspecifiedMatching MONDO:0004755 monieziasis skos:exactMatch mesh:D008989 semapv:UnspecifiedMatching MONDO:0004756 nasal cavity neoplasm skos:exactMatch DOID:9310 nasal cavity benign neoplasm semapv:UnspecifiedMatching MONDO:0004756 nasal cavity neoplasm skos:exactMatch NCIT:C4413 Nasal Cavity Neoplasm semapv:UnspecifiedMatching MONDO:0004756 nasal cavity neoplasm skos:exactMatch SCTID:126670003 semapv:UnspecifiedMatching MONDO:0004756 nasal cavity neoplasm skos:exactMatch UMLS:C0345630 semapv:UnspecifiedMatching MONDO:0004757 chronic ethmoidal sinusitis skos:exactMatch DOID:9312 chronic ethmoiditis semapv:UnspecifiedMatching MONDO:0004757 chronic ethmoidal sinusitis skos:exactMatch ICD10CM:J32.2 Chronic ethmoidal sinusitis semapv:UnspecifiedMatching MONDO:0004757 chronic ethmoidal sinusitis skos:exactMatch NCIT:C34472 Chronic Ethmoidal Sinusitis semapv:UnspecifiedMatching MONDO:0004757 chronic ethmoidal sinusitis skos:exactMatch SCTID:73237007 semapv:UnspecifiedMatching MONDO:0004757 chronic ethmoidal sinusitis skos:exactMatch UMLS:C0008681 semapv:UnspecifiedMatching MONDO:0004758 scotoma skos:exactMatch DOID:9335 scotoma semapv:UnspecifiedMatching MONDO:0004758 scotoma skos:exactMatch mesh:D012607 semapv:UnspecifiedMatching MONDO:0004759 zoophilia skos:exactMatch DOID:9336 bestiality semapv:UnspecifiedMatching MONDO:0004759 zoophilia skos:exactMatch SCTID:81463002 semapv:UnspecifiedMatching MONDO:0004760 urethral false passage skos:exactMatch DOID:9339 urethral false passage semapv:UnspecifiedMatching MONDO:0004760 urethral false passage skos:exactMatch ICD10CM:N36.5 Urethral false passage semapv:UnspecifiedMatching MONDO:0004760 urethral false passage skos:exactMatch SCTID:74944002 semapv:UnspecifiedMatching MONDO:0004761 obsolete urethral diverticulum skos:exactMatch DOID:9341 urethral diverticulum semapv:UnspecifiedMatching MONDO:0004762 Taylor syndrome skos:exactMatch DOID:9346 Taylor's syndrome semapv:UnspecifiedMatching MONDO:0004762 Taylor syndrome skos:exactMatch SCTID:39402007 semapv:UnspecifiedMatching MONDO:0004762 Taylor syndrome skos:exactMatch UMLS:C0152078 semapv:UnspecifiedMatching MONDO:0004763 carotid artery dissection skos:exactMatch DOID:9348 carotid artery dissection semapv:UnspecifiedMatching MONDO:0004763 carotid artery dissection skos:exactMatch ICD10CM:I77.71 Dissection of carotid artery semapv:UnspecifiedMatching MONDO:0004763 carotid artery dissection skos:exactMatch NCIT:C125662 Carotid Artery Dissection semapv:UnspecifiedMatching MONDO:0004763 carotid artery dissection skos:exactMatch SCTID:720626009 semapv:UnspecifiedMatching MONDO:0004763 carotid artery dissection skos:exactMatch UMLS:C0338585 semapv:UnspecifiedMatching MONDO:0004764 fibular collateral ligament bursitis skos:exactMatch DOID:9358 fibular collateral ligament bursitis semapv:UnspecifiedMatching MONDO:0004764 fibular collateral ligament bursitis skos:exactMatch SCTID:77323000 semapv:UnspecifiedMatching MONDO:0004764 fibular collateral ligament bursitis skos:exactMatch UMLS:C0158316 semapv:UnspecifiedMatching MONDO:0004765 intrinsic asthma skos:exactMatch DOID:9360 intrinsic asthma semapv:UnspecifiedMatching MONDO:0004765 intrinsic asthma skos:exactMatch SCTID:266361008 semapv:UnspecifiedMatching MONDO:0004765 intrinsic asthma skos:exactMatch UMLS:C0155880 semapv:UnspecifiedMatching MONDO:0004766 status asthmaticus skos:exactMatch DOID:9362 status asthmaticus semapv:UnspecifiedMatching MONDO:0004766 status asthmaticus skos:exactMatch NCIT:C122577 Status Asthmaticus semapv:UnspecifiedMatching MONDO:0004766 status asthmaticus skos:exactMatch SCTID:708090002 semapv:UnspecifiedMatching MONDO:0004766 status asthmaticus skos:exactMatch UMLS:C0038218 semapv:UnspecifiedMatching MONDO:0004766 status asthmaticus skos:exactMatch mesh:D013224 semapv:UnspecifiedMatching MONDO:0004767 vesiculitis skos:exactMatch DOID:9365 vesiculitis semapv:UnspecifiedMatching MONDO:0004767 vesiculitis skos:exactMatch NCIT:C12787 Seminal Vesicle semapv:UnspecifiedMatching MONDO:0004767 vesiculitis skos:exactMatch SCTID:27001009 semapv:UnspecifiedMatching MONDO:0004767 vesiculitis skos:exactMatch UMLS:C0042588 semapv:UnspecifiedMatching MONDO:0004768 keratoconjunctivitis skos:exactMatch DOID:9368 keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0004768 keratoconjunctivitis skos:exactMatch ICD10CM:H16.2 Keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0004768 keratoconjunctivitis skos:exactMatch NCIT:C34744 Keratoconjunctivitis semapv:UnspecifiedMatching MONDO:0004768 keratoconjunctivitis skos:exactMatch SCTID:88151007 semapv:UnspecifiedMatching MONDO:0004768 keratoconjunctivitis skos:exactMatch UMLS:C0022573 semapv:UnspecifiedMatching MONDO:0004768 keratoconjunctivitis skos:exactMatch mesh:D007637 semapv:UnspecifiedMatching MONDO:0004769 orbital plasma cell granuloma skos:exactMatch DOID:9369 orbital plasma cell granuloma semapv:UnspecifiedMatching MONDO:0004769 orbital plasma cell granuloma skos:exactMatch NCIT:C117296 Orbital Myositis semapv:UnspecifiedMatching MONDO:0004769 orbital plasma cell granuloma skos:exactMatch SCTID:72789009 semapv:UnspecifiedMatching MONDO:0004769 orbital plasma cell granuloma skos:exactMatch SCTID:80698001 semapv:UnspecifiedMatching MONDO:0004769 orbital plasma cell granuloma skos:exactMatch mesh:D016727 semapv:UnspecifiedMatching MONDO:0004770 exophthalmos skos:exactMatch NCIT:C118763 Exophthalmos semapv:UnspecifiedMatching MONDO:0004770 exophthalmos skos:exactMatch SCTID:18265008 semapv:UnspecifiedMatching MONDO:0004770 exophthalmos skos:exactMatch UMLS:C0015300 semapv:UnspecifiedMatching MONDO:0004770 exophthalmos skos:exactMatch mesh:D005094 semapv:UnspecifiedMatching MONDO:0004772 glaucomatocyclitic crisis skos:exactMatch DOID:9378 glaucomatocyclitic crisis semapv:UnspecifiedMatching MONDO:0004772 glaucomatocyclitic crisis skos:exactMatch Orphanet:636950 Glaucomatocyclitic crisis disease semapv:UnspecifiedMatching MONDO:0004772 glaucomatocyclitic crisis skos:exactMatch SCTID:29538005 semapv:UnspecifiedMatching MONDO:0004772 glaucomatocyclitic crisis skos:exactMatch UMLS:C0152138 semapv:UnspecifiedMatching MONDO:0004773 iridocyclitis skos:exactMatch DOID:9383 iridocyclitis semapv:UnspecifiedMatching MONDO:0004773 iridocyclitis skos:exactMatch NCIT:C34736 Iridocyclitis semapv:UnspecifiedMatching MONDO:0004773 iridocyclitis skos:exactMatch SCTID:77971008 semapv:UnspecifiedMatching MONDO:0004773 iridocyclitis skos:exactMatch UMLS:C0022073 semapv:UnspecifiedMatching MONDO:0004773 iridocyclitis skos:exactMatch mesh:D015863 semapv:UnspecifiedMatching MONDO:0004774 gonococcal iridocyclitis skos:exactMatch DOID:9384 gonococcal iridocyclitis semapv:UnspecifiedMatching MONDO:0004774 gonococcal iridocyclitis skos:exactMatch ICD10CM:A54.32 Gonococcal iridocyclitis semapv:UnspecifiedMatching MONDO:0004774 gonococcal iridocyclitis skos:exactMatch SCTID:9091006 semapv:UnspecifiedMatching MONDO:0004774 gonococcal iridocyclitis skos:exactMatch UMLS:C0153212 semapv:UnspecifiedMatching MONDO:0004775 lens-induced iridocyclitis skos:exactMatch DOID:9388 lens-induced iridocyclitis semapv:UnspecifiedMatching MONDO:0004775 lens-induced iridocyclitis skos:exactMatch SCTID:70461003 semapv:UnspecifiedMatching MONDO:0004775 lens-induced iridocyclitis skos:exactMatch UMLS:C0339320 semapv:UnspecifiedMatching MONDO:0004777 acute laryngitis skos:exactMatch DOID:9396 acute laryngitis semapv:UnspecifiedMatching MONDO:0004777 acute laryngitis skos:exactMatch ICD10CM:J04.0 Acute laryngitis semapv:UnspecifiedMatching MONDO:0004777 acute laryngitis skos:exactMatch NCIT:C26688 Acute Laryngitis semapv:UnspecifiedMatching MONDO:0004777 acute laryngitis skos:exactMatch SCTID:6655004 semapv:UnspecifiedMatching MONDO:0004777 acute laryngitis skos:exactMatch UMLS:C0001327 semapv:UnspecifiedMatching MONDO:0004778 epididymo-orchitis skos:exactMatch DOID:9401 epididymo-orchitis semapv:UnspecifiedMatching MONDO:0004778 epididymo-orchitis skos:exactMatch ICD10CM:N45.3 Epididymo-orchitis semapv:UnspecifiedMatching MONDO:0004778 epididymo-orchitis skos:exactMatch SCTID:197983000 semapv:UnspecifiedMatching MONDO:0004778 epididymo-orchitis skos:exactMatch UMLS:C0149881 semapv:UnspecifiedMatching MONDO:0004779 epididymitis skos:exactMatch DOID:9402 epididymitis semapv:UnspecifiedMatching MONDO:0004779 epididymitis skos:exactMatch ICD10CM:N45.1 Epididymitis semapv:UnspecifiedMatching MONDO:0004779 epididymitis skos:exactMatch NCIT:C12328 Epididymis semapv:UnspecifiedMatching MONDO:0004779 epididymitis skos:exactMatch SCTID:31070006 semapv:UnspecifiedMatching MONDO:0004779 epididymitis skos:exactMatch UMLS:C0014534 semapv:UnspecifiedMatching MONDO:0004779 epididymitis skos:exactMatch mesh:D004823 semapv:UnspecifiedMatching MONDO:0004780 strictly posterior acute myocardial infarction skos:exactMatch DOID:9407 strictly posterior acute myocardial infarction semapv:UnspecifiedMatching MONDO:0004781 acute myocardial infarction skos:exactMatch DOID:9408 acute myocardial infarction semapv:UnspecifiedMatching MONDO:0004781 acute myocardial infarction skos:exactMatch ICD10CM:I21.9 Acute myocardial infarction, unspecified semapv:UnspecifiedMatching MONDO:0004781 acute myocardial infarction skos:exactMatch NCIT:C35204 Acute Myocardial Infarction semapv:UnspecifiedMatching MONDO:0004781 acute myocardial infarction skos:exactMatch SCTID:57054005 semapv:UnspecifiedMatching MONDO:0004781 acute myocardial infarction skos:exactMatch UMLS:C0155626 semapv:UnspecifiedMatching MONDO:0004782 diabetes insipidus skos:exactMatch DOID:9409 diabetes insipidus semapv:UnspecifiedMatching MONDO:0004782 diabetes insipidus skos:exactMatch ICD10CM:E23.2 Diabetes insipidus semapv:UnspecifiedMatching MONDO:0004782 diabetes insipidus skos:exactMatch NCIT:C43263 Diabetes Insipidus semapv:UnspecifiedMatching MONDO:0004782 diabetes insipidus skos:exactMatch SCTID:15771004 semapv:UnspecifiedMatching MONDO:0004782 diabetes insipidus skos:exactMatch UMLS:C0011848 semapv:UnspecifiedMatching MONDO:0004782 diabetes insipidus skos:exactMatch mesh:D003919 semapv:UnspecifiedMatching MONDO:0004784 allergic asthma skos:exactMatch DOID:9415 allergic asthma semapv:UnspecifiedMatching MONDO:0004784 allergic asthma skos:exactMatch SCTID:389145006 semapv:UnspecifiedMatching MONDO:0004784 allergic asthma skos:exactMatch UMLS:C0155877 semapv:UnspecifiedMatching MONDO:0004785 blepharitis skos:exactMatch DOID:9423 blepharitis semapv:UnspecifiedMatching MONDO:0004785 blepharitis skos:exactMatch ICD10CM:H01.0 Blepharitis semapv:UnspecifiedMatching MONDO:0004785 blepharitis skos:exactMatch NCIT:C112183 Blepharitis semapv:UnspecifiedMatching MONDO:0004785 blepharitis skos:exactMatch SCTID:41446000 semapv:UnspecifiedMatching MONDO:0004785 blepharitis skos:exactMatch UMLS:C0005741 semapv:UnspecifiedMatching MONDO:0004785 blepharitis skos:exactMatch mesh:D001762 semapv:UnspecifiedMatching MONDO:0004786 chronic cholangitis skos:exactMatch DOID:9439 chronic cholangitis semapv:UnspecifiedMatching MONDO:0004786 chronic cholangitis skos:exactMatch NCIT:C35335 Chronic Cholangitis semapv:UnspecifiedMatching MONDO:0004786 chronic cholangitis skos:exactMatch SCTID:71912000 semapv:UnspecifiedMatching MONDO:0004786 chronic cholangitis skos:exactMatch UMLS:C0267918 semapv:UnspecifiedMatching MONDO:0004787 cervical mullerian papilloma skos:exactMatch DOID:9442 cervical Mullerian papilloma semapv:UnspecifiedMatching MONDO:0004787 cervical mullerian papilloma skos:exactMatch NCIT:C40215 Cervical Mullerian Papilloma semapv:UnspecifiedMatching MONDO:0004787 cervical mullerian papilloma skos:exactMatch UMLS:C1516427 semapv:UnspecifiedMatching MONDO:0004788 cervix squamous papilloma skos:exactMatch DOID:9445 cervix squamous papilloma semapv:UnspecifiedMatching MONDO:0004788 cervix squamous papilloma skos:exactMatch NCIT:C6342 Cervical Squamous Papilloma semapv:UnspecifiedMatching MONDO:0004788 cervix squamous papilloma skos:exactMatch UMLS:C1336900 semapv:UnspecifiedMatching MONDO:0004789 cholangitis skos:exactMatch DOID:9446 cholangitis semapv:UnspecifiedMatching MONDO:0004789 cholangitis skos:exactMatch ICD10CM:K83.0 Cholangitis semapv:UnspecifiedMatching MONDO:0004789 cholangitis skos:exactMatch NCIT:C26718 Cholangitis semapv:UnspecifiedMatching MONDO:0004789 cholangitis skos:exactMatch SCTID:82403002 semapv:UnspecifiedMatching MONDO:0004789 cholangitis skos:exactMatch UMLS:C0008311 semapv:UnspecifiedMatching MONDO:0004789 cholangitis skos:exactMatch mesh:D002761 semapv:UnspecifiedMatching MONDO:0004790 fatty liver disease skos:exactMatch DOID:9452 steatotic liver disease semapv:UnspecifiedMatching MONDO:0004790 fatty liver disease skos:exactMatch SCTID:197321007 semapv:UnspecifiedMatching MONDO:0004790 fatty liver disease skos:exactMatch mesh:D005234 semapv:UnspecifiedMatching MONDO:0004792 cancer of isthmus of fallopian tube skos:exactMatch DOID:9459 isthmus cancer semapv:UnspecifiedMatching MONDO:0004794 exposure keratitis skos:exactMatch DOID:9461 exposure keratitis semapv:UnspecifiedMatching MONDO:0004794 exposure keratitis skos:exactMatch SCTID:14366000 semapv:UnspecifiedMatching MONDO:0004794 exposure keratitis skos:exactMatch UMLS:C0339295 semapv:UnspecifiedMatching MONDO:0004795 otitis externa skos:exactMatch DOID:9463 otitis externa semapv:UnspecifiedMatching MONDO:0004795 otitis externa skos:exactMatch ICD10CM:H60 Otitis externa semapv:UnspecifiedMatching MONDO:0004795 otitis externa skos:exactMatch NCIT:C3299 Infectious Otitis Externa semapv:UnspecifiedMatching MONDO:0004795 otitis externa skos:exactMatch NCIT:C79601 Otitis Externa semapv:UnspecifiedMatching MONDO:0004795 otitis externa skos:exactMatch SCTID:3135009 semapv:UnspecifiedMatching MONDO:0004795 otitis externa skos:exactMatch mesh:D010032 semapv:UnspecifiedMatching MONDO:0004796 infectious meningitis skos:exactMatch DOID:9471 meningitis semapv:UnspecifiedMatching MONDO:0004796 infectious meningitis skos:exactMatch NCIT:C79598 Infectious Meningitis semapv:UnspecifiedMatching MONDO:0004796 infectious meningitis skos:exactMatch SCTID:312216007 semapv:UnspecifiedMatching MONDO:0004797 mononeuritis of lower limb skos:exactMatch DOID:9473 mononeuritis of lower limb semapv:UnspecifiedMatching MONDO:0004799 ulcerative blepharitis skos:exactMatch DOID:9483 ulcerative blepharitis semapv:UnspecifiedMatching MONDO:0004799 ulcerative blepharitis skos:exactMatch SCTID:91662004 semapv:UnspecifiedMatching MONDO:0004799 ulcerative blepharitis skos:exactMatch UMLS:C0155173 semapv:UnspecifiedMatching MONDO:0004800 chronic dacryoadenitis skos:exactMatch DOID:949 chronic dacryoadenitis semapv:UnspecifiedMatching MONDO:0004800 chronic dacryoadenitis skos:exactMatch SCTID:4760008 semapv:UnspecifiedMatching MONDO:0004800 chronic dacryoadenitis skos:exactMatch UMLS:C0155224 semapv:UnspecifiedMatching MONDO:0004801 unilateral hypoactive labyrinth skos:exactMatch DOID:9496 unilateral hypoactive labyrinth semapv:UnspecifiedMatching MONDO:0004801 unilateral hypoactive labyrinth skos:exactMatch UMLS:C0155517 semapv:UnspecifiedMatching MONDO:0004802 pulmonary eosinophilia skos:exactMatch DOID:9498 pulmonary eosinophilia semapv:UnspecifiedMatching MONDO:0004802 pulmonary eosinophilia skos:exactMatch SCTID:367542003 semapv:UnspecifiedMatching MONDO:0004802 pulmonary eosinophilia skos:exactMatch UMLS:C0034068 semapv:UnspecifiedMatching MONDO:0004802 pulmonary eosinophilia skos:exactMatch mesh:D011657 semapv:UnspecifiedMatching MONDO:0004803 disseminated eosinophilic collagen disease skos:exactMatch DOID:9499 disseminated eosinophilic collagen disease semapv:UnspecifiedMatching MONDO:0004803 disseminated eosinophilic collagen disease skos:exactMatch SCTID:423486005 semapv:UnspecifiedMatching MONDO:0004803 disseminated eosinophilic collagen disease skos:exactMatch UMLS:C0263662 semapv:UnspecifiedMatching MONDO:0004804 dacryoadenitis skos:exactMatch DOID:950 dacryoadenitis semapv:UnspecifiedMatching MONDO:0004804 dacryoadenitis skos:exactMatch NCIT:C26971 Dacryoadenitis semapv:UnspecifiedMatching MONDO:0004804 dacryoadenitis skos:exactMatch SCTID:86927009 semapv:UnspecifiedMatching MONDO:0004804 dacryoadenitis skos:exactMatch UMLS:C0155223 semapv:UnspecifiedMatching MONDO:0004805 leukocyte disorder skos:exactMatch DOID:9500 leukocyte disease semapv:UnspecifiedMatching MONDO:0004805 leukocyte disorder skos:exactMatch SCTID:54097007 semapv:UnspecifiedMatching MONDO:0004805 leukocyte disorder skos:exactMatch UMLS:C0023510 semapv:UnspecifiedMatching MONDO:0004805 leukocyte disorder skos:exactMatch mesh:D007960 semapv:UnspecifiedMatching MONDO:0004806 chronic eosinophilic pneumonia skos:exactMatch DOID:9502 chronic eosinophilic pneumonia semapv:UnspecifiedMatching MONDO:0004806 chronic eosinophilic pneumonia skos:exactMatch NCIT:C34471 Chronic Eosinophilic Pneumonia semapv:UnspecifiedMatching MONDO:0004806 chronic eosinophilic pneumonia skos:exactMatch SCTID:233692000 semapv:UnspecifiedMatching MONDO:0004808 benign mammary dysplasia skos:exactMatch DOID:9504 benign mammary dysplasia semapv:UnspecifiedMatching MONDO:0004808 benign mammary dysplasia skos:exactMatch SCTID:57993004 semapv:UnspecifiedMatching MONDO:0004810 acute ethmoiditis skos:exactMatch DOID:9506 acute ethmoiditis semapv:UnspecifiedMatching MONDO:0004810 acute ethmoiditis skos:exactMatch SCTID:67832005 semapv:UnspecifiedMatching MONDO:0004810 acute ethmoiditis skos:exactMatch UMLS:C0155806 semapv:UnspecifiedMatching MONDO:0004811 simple chronic conjunctivitis skos:exactMatch DOID:9512 simple chronic conjunctivitis semapv:UnspecifiedMatching MONDO:0004811 simple chronic conjunctivitis skos:exactMatch SCTID:8211008 semapv:UnspecifiedMatching MONDO:0004811 simple chronic conjunctivitis skos:exactMatch UMLS:C0155146 semapv:UnspecifiedMatching MONDO:0004812 acute dacryoadenitis skos:exactMatch DOID:952 acute dacryoadenitis semapv:UnspecifiedMatching MONDO:0004812 acute dacryoadenitis skos:exactMatch SCTID:2589008 semapv:UnspecifiedMatching MONDO:0004812 acute dacryoadenitis skos:exactMatch UMLS:C0149505 semapv:UnspecifiedMatching MONDO:0004813 tuberculous pneumothorax skos:exactMatch DOID:9534 tuberculous pneumothorax semapv:UnspecifiedMatching MONDO:0004813 tuberculous pneumothorax skos:exactMatch SCTID:29731002 semapv:UnspecifiedMatching MONDO:0004813 tuberculous pneumothorax skos:exactMatch UMLS:C0152600 semapv:UnspecifiedMatching MONDO:0004815 osteosclerotic plasma cell myeloma skos:exactMatch DOID:9541 osteosclerotic myeloma semapv:UnspecifiedMatching MONDO:0004815 osteosclerotic plasma cell myeloma skos:exactMatch NCIT:C7765 Osteosclerotic Multiple Myeloma semapv:UnspecifiedMatching MONDO:0004815 osteosclerotic plasma cell myeloma skos:exactMatch SCTID:425657001 semapv:UnspecifiedMatching MONDO:0004816 refractory plasma cell neoplasm skos:exactMatch DOID:9544 refractory plasma cell neoplasm semapv:UnspecifiedMatching MONDO:0004816 refractory plasma cell neoplasm skos:exactMatch NCIT:C7813 Refractory Plasma Cell Neoplasm semapv:UnspecifiedMatching MONDO:0004816 refractory plasma cell neoplasm skos:exactMatch UMLS:C0278620 semapv:UnspecifiedMatching MONDO:0004817 non-secretory plasma cell myeloma skos:exactMatch DOID:9547 non-secretory myeloma semapv:UnspecifiedMatching MONDO:0004817 non-secretory plasma cell myeloma skos:exactMatch NCIT:C4734 Non-Secretory Multiple Myeloma semapv:UnspecifiedMatching MONDO:0004817 non-secretory plasma cell myeloma skos:exactMatch SCTID:277580004 semapv:UnspecifiedMatching MONDO:0004817 non-secretory plasma cell myeloma skos:exactMatch UMLS:C3898125 semapv:UnspecifiedMatching MONDO:0004819 indolent plasma cell myeloma skos:exactMatch DOID:9550 indolent plasma cell myeloma semapv:UnspecifiedMatching MONDO:0004819 indolent plasma cell myeloma skos:exactMatch NCIT:C7150 Indolent Multiple Myeloma semapv:UnspecifiedMatching MONDO:0004819 indolent plasma cell myeloma skos:exactMatch SCTID:441313008 semapv:UnspecifiedMatching MONDO:0004819 indolent plasma cell myeloma skos:exactMatch UMLS:C2049069 semapv:UnspecifiedMatching MONDO:0004820 peripheral nerve schwannoma skos:exactMatch DOID:956 peripheral nerve schwannoma semapv:UnspecifiedMatching MONDO:0004820 peripheral nerve schwannoma skos:exactMatch NCIT:C41430 Peripheral Nerve Schwannoma semapv:UnspecifiedMatching MONDO:0004820 peripheral nerve schwannoma skos:exactMatch UMLS:C1519001 semapv:UnspecifiedMatching MONDO:0004821 nasopharyngeal disorder skos:exactMatch DOID:9561 nasopharyngeal disease semapv:UnspecifiedMatching MONDO:0004821 nasopharyngeal disorder skos:exactMatch NCIT:C35723 Nasopharyngeal Disorder semapv:UnspecifiedMatching MONDO:0004821 nasopharyngeal disorder skos:exactMatch SCTID:123952009 semapv:UnspecifiedMatching MONDO:0004821 nasopharyngeal disorder skos:exactMatch UMLS:C0027438 semapv:UnspecifiedMatching MONDO:0004821 nasopharyngeal disorder skos:exactMatch mesh:D009302 semapv:UnspecifiedMatching MONDO:0004822 bronchiectasis skos:exactMatch DOID:9563 bronchiectasis semapv:UnspecifiedMatching MONDO:0004822 bronchiectasis skos:exactMatch ICD10CM:J47 Bronchiectasis semapv:UnspecifiedMatching MONDO:0004822 bronchiectasis skos:exactMatch NCIT:C84475 Bronchiectasis semapv:UnspecifiedMatching MONDO:0004822 bronchiectasis skos:exactMatch OMIMPS:211400 semapv:UnspecifiedMatching MONDO:0004822 bronchiectasis skos:exactMatch SCTID:12295008 semapv:UnspecifiedMatching MONDO:0004822 bronchiectasis skos:exactMatch UMLS:C0006267 semapv:UnspecifiedMatching MONDO:0004822 bronchiectasis skos:exactMatch mesh:D001987 semapv:UnspecifiedMatching MONDO:0004824 neonatal candidiasis skos:exactMatch DOID:9577 neonatal candidiasis semapv:UnspecifiedMatching MONDO:0004824 neonatal candidiasis skos:exactMatch ICD10CM:P37.5 Neonatal candidiasis semapv:UnspecifiedMatching MONDO:0004824 neonatal candidiasis skos:exactMatch NCIT:C116810 Neonatal Candidiasis semapv:UnspecifiedMatching MONDO:0004824 neonatal candidiasis skos:exactMatch SCTID:414821002 semapv:UnspecifiedMatching MONDO:0004824 neonatal candidiasis skos:exactMatch UMLS:C0276682 semapv:UnspecifiedMatching MONDO:0004826 urethral calculus skos:exactMatch DOID:9589 urethral calculus semapv:UnspecifiedMatching MONDO:0004826 urethral calculus skos:exactMatch SCTID:20342001 semapv:UnspecifiedMatching MONDO:0004826 urethral calculus skos:exactMatch UMLS:C0162301 semapv:UnspecifiedMatching MONDO:0004827 esophagus squamous cell papilloma skos:exactMatch DOID:959 esophagus squamous cell papilloma semapv:UnspecifiedMatching MONDO:0004827 esophagus squamous cell papilloma skos:exactMatch NCIT:C5344 Esophageal Squamous Papilloma semapv:UnspecifiedMatching MONDO:0004827 esophagus squamous cell papilloma skos:exactMatch UMLS:C1333467 semapv:UnspecifiedMatching MONDO:0004828 lower urinary tract calculus skos:exactMatch DOID:9590 lower urinary tract calculus semapv:UnspecifiedMatching MONDO:0004828 lower urinary tract calculus skos:exactMatch ICD10CM:N21.9 Calculus of lower urinary tract, unspecified semapv:UnspecifiedMatching MONDO:0004828 lower urinary tract calculus skos:exactMatch SCTID:79509009 semapv:UnspecifiedMatching MONDO:0004828 lower urinary tract calculus skos:exactMatch UMLS:C0156264 semapv:UnspecifiedMatching MONDO:0004829 Krukenberg carcinoma skos:exactMatch DOID:9597 Krukenberg carcinoma semapv:UnspecifiedMatching MONDO:0004829 Krukenberg carcinoma skos:exactMatch NCIT:C3153 Krukenberg Tumor semapv:UnspecifiedMatching MONDO:0004829 Krukenberg carcinoma skos:exactMatch SCTID:359987004 semapv:UnspecifiedMatching MONDO:0004829 Krukenberg carcinoma skos:exactMatch UMLS:C0022790 semapv:UnspecifiedMatching MONDO:0004829 Krukenberg carcinoma skos:exactMatch mesh:D007725 semapv:UnspecifiedMatching MONDO:0004830 fasciitis skos:exactMatch DOID:9598 fasciitis semapv:UnspecifiedMatching MONDO:0004830 fasciitis skos:exactMatch NCIT:C50559 Fasciitis semapv:UnspecifiedMatching MONDO:0004830 fasciitis skos:exactMatch SCTID:36948007 semapv:UnspecifiedMatching MONDO:0004830 fasciitis skos:exactMatch UMLS:C0015645 semapv:UnspecifiedMatching MONDO:0004830 fasciitis skos:exactMatch mesh:D005208 semapv:UnspecifiedMatching MONDO:0004831 proliferative fasciitis skos:exactMatch DOID:9599 proliferative fasciitis semapv:UnspecifiedMatching MONDO:0004831 proliferative fasciitis skos:exactMatch NCIT:C4728 Proliferative Fasciitis semapv:UnspecifiedMatching MONDO:0004831 proliferative fasciitis skos:exactMatch SCTID:254737002 semapv:UnspecifiedMatching MONDO:0004831 proliferative fasciitis skos:exactMatch UMLS:C0432528 semapv:UnspecifiedMatching MONDO:0004832 esophagus leiomyoma skos:exactMatch DOID:960 esophagus leiomyoma semapv:UnspecifiedMatching MONDO:0004832 esophagus leiomyoma skos:exactMatch NCIT:C3866 Esophageal Leiomyoma semapv:UnspecifiedMatching MONDO:0004832 esophagus leiomyoma skos:exactMatch SCTID:276805005 semapv:UnspecifiedMatching MONDO:0004832 esophagus leiomyoma skos:exactMatch UMLS:C0238114 semapv:UnspecifiedMatching MONDO:0004833 plantar fasciitis skos:exactMatch DOID:9600 plantar fasciitis semapv:UnspecifiedMatching MONDO:0004833 plantar fasciitis skos:exactMatch SCTID:202882003 semapv:UnspecifiedMatching MONDO:0004833 plantar fasciitis skos:exactMatch UMLS:C0149756 semapv:UnspecifiedMatching MONDO:0004833 plantar fasciitis skos:exactMatch mesh:D036981 semapv:UnspecifiedMatching MONDO:0004834 ischemic fasciitis skos:exactMatch DOID:9601 ischemic fasciitis semapv:UnspecifiedMatching MONDO:0004834 ischemic fasciitis skos:exactMatch NCIT:C6483 Ischemic Fasciitis semapv:UnspecifiedMatching MONDO:0004834 ischemic fasciitis skos:exactMatch SCTID:403990005 semapv:UnspecifiedMatching MONDO:0004834 ischemic fasciitis skos:exactMatch UMLS:C1304514 semapv:UnspecifiedMatching MONDO:0004835 necrotizing fasciitis skos:exactMatch DOID:9602 necrotizing fasciitis semapv:UnspecifiedMatching MONDO:0004835 necrotizing fasciitis skos:exactMatch ICD10CM:M72.6 Necrotizing fasciitis semapv:UnspecifiedMatching MONDO:0004835 necrotizing fasciitis skos:exactMatch NCIT:C84916 Necrotizing Fasciitis semapv:UnspecifiedMatching MONDO:0004835 necrotizing fasciitis skos:exactMatch SCTID:52486002 semapv:UnspecifiedMatching MONDO:0004835 necrotizing fasciitis skos:exactMatch UMLS:C0238124 semapv:UnspecifiedMatching MONDO:0004835 necrotizing fasciitis skos:exactMatch mesh:D019115 semapv:UnspecifiedMatching MONDO:0004836 intravascular fasciitis skos:exactMatch DOID:9603 intravascular fasciitis semapv:UnspecifiedMatching MONDO:0004836 intravascular fasciitis skos:exactMatch NCIT:C4729 Intravascular Nodular Fasciitis semapv:UnspecifiedMatching MONDO:0004836 intravascular fasciitis skos:exactMatch SCTID:254738007 semapv:UnspecifiedMatching MONDO:0004836 intravascular fasciitis skos:exactMatch UMLS:C0432529 semapv:UnspecifiedMatching MONDO:0004837 neurofibroma of the esophagus skos:exactMatch DOID:961 neurofibroma of the esophagus semapv:UnspecifiedMatching MONDO:0004837 neurofibroma of the esophagus skos:exactMatch NCIT:C5704 Esophageal Neurofibroma semapv:UnspecifiedMatching MONDO:0004837 neurofibroma of the esophagus skos:exactMatch UMLS:C1333463 semapv:UnspecifiedMatching MONDO:0004838 orthostatic proteinuria skos:exactMatch DOID:9617 orthostatic proteinuria semapv:UnspecifiedMatching MONDO:0004838 orthostatic proteinuria skos:exactMatch UMLS:C0232867 semapv:UnspecifiedMatching MONDO:0004840 non-congenital cyst of kidney skos:exactMatch DOID:9621 non-congenital cyst of kidney semapv:UnspecifiedMatching MONDO:0004840 non-congenital cyst of kidney skos:exactMatch SCTID:105999006 semapv:UnspecifiedMatching MONDO:0004840 non-congenital cyst of kidney skos:exactMatch UMLS:C0268799 semapv:UnspecifiedMatching MONDO:0004841 kidney hypertrophy skos:exactMatch DOID:9622 kidney hypertrophy semapv:UnspecifiedMatching MONDO:0004841 kidney hypertrophy skos:exactMatch ICD10CM:N28.81 Hypertrophy of kidney semapv:UnspecifiedMatching MONDO:0004841 kidney hypertrophy skos:exactMatch NCIT:C122991 Renal Hypertrophy semapv:UnspecifiedMatching MONDO:0004841 kidney hypertrophy skos:exactMatch SCTID:88531004 semapv:UnspecifiedMatching MONDO:0004841 kidney hypertrophy skos:exactMatch UMLS:C0156259 semapv:UnspecifiedMatching MONDO:0004842 stomatitis skos:exactMatch DOID:9637 stomatitis semapv:UnspecifiedMatching MONDO:0004842 stomatitis skos:exactMatch NCIT:C26887 Stomatitis semapv:UnspecifiedMatching MONDO:0004842 stomatitis skos:exactMatch SCTID:61170000 semapv:UnspecifiedMatching MONDO:0004842 stomatitis skos:exactMatch UMLS:C0038362 semapv:UnspecifiedMatching MONDO:0004842 stomatitis skos:exactMatch mesh:D013280 semapv:UnspecifiedMatching MONDO:0004843 pathologic nystagmus skos:exactMatch DOID:9650 pathologic nystagmus semapv:UnspecifiedMatching MONDO:0004843 pathologic nystagmus skos:exactMatch UMLS:C0028738 semapv:UnspecifiedMatching MONDO:0004843 pathologic nystagmus skos:exactMatch mesh:D009759 semapv:UnspecifiedMatching MONDO:0004844 oral mucosa leukoplakia skos:exactMatch DOID:9655 oral mucosa leukoplakia semapv:UnspecifiedMatching MONDO:0004844 oral mucosa leukoplakia skos:exactMatch NCIT:C3187 Oral Leukoplakia semapv:UnspecifiedMatching MONDO:0004844 oral mucosa leukoplakia skos:exactMatch SCTID:414603003 semapv:UnspecifiedMatching MONDO:0004844 oral mucosa leukoplakia skos:exactMatch UMLS:C0023532 semapv:UnspecifiedMatching MONDO:0004844 oral mucosa leukoplakia skos:exactMatch mesh:D007972 semapv:UnspecifiedMatching MONDO:0004845 aphthous stomatitis skos:exactMatch DOID:9663 aphthous stomatitis semapv:UnspecifiedMatching MONDO:0004846 placental abruption skos:exactMatch DOID:9667 placental abruption semapv:UnspecifiedMatching MONDO:0004846 placental abruption skos:exactMatch NCIT:C26685 Placental Abruption semapv:UnspecifiedMatching MONDO:0004846 placental abruption skos:exactMatch SCTID:415105001 semapv:UnspecifiedMatching MONDO:0004846 placental abruption skos:exactMatch mesh:D000037 semapv:UnspecifiedMatching MONDO:0004847 senile cataract skos:exactMatch DOID:9669 senile cataract semapv:UnspecifiedMatching MONDO:0004847 senile cataract skos:exactMatch NCIT:C35012 Senile Cataract semapv:UnspecifiedMatching MONDO:0004847 senile cataract skos:exactMatch SCTID:39450006 semapv:UnspecifiedMatching MONDO:0004848 ulcerative stomatitis skos:exactMatch DOID:9673 ulcerative stomatitis semapv:UnspecifiedMatching MONDO:0004848 ulcerative stomatitis skos:exactMatch NCIT:C35039 Ulcerative Stomatitis semapv:UnspecifiedMatching MONDO:0004848 ulcerative stomatitis skos:exactMatch SCTID:450005 semapv:UnspecifiedMatching MONDO:0004848 ulcerative stomatitis skos:exactMatch UMLS:C0038367 semapv:UnspecifiedMatching MONDO:0004849 pulmonary emphysema skos:exactMatch DOID:9675 pulmonary emphysema semapv:UnspecifiedMatching MONDO:0004849 pulmonary emphysema skos:exactMatch ICD10CM:J43 Emphysema semapv:UnspecifiedMatching MONDO:0004849 pulmonary emphysema skos:exactMatch NCIT:C3348 Pulmonary Emphysema semapv:UnspecifiedMatching MONDO:0004849 pulmonary emphysema skos:exactMatch SCTID:87433001 semapv:UnspecifiedMatching MONDO:0004849 pulmonary emphysema skos:exactMatch mesh:D004646 semapv:UnspecifiedMatching MONDO:0004849 pulmonary emphysema skos:exactMatch mesh:D011656 semapv:UnspecifiedMatching MONDO:0004851 toxic myocarditis skos:exactMatch DOID:9694 toxic myocarditis semapv:UnspecifiedMatching MONDO:0004851 toxic myocarditis skos:exactMatch SCTID:31993003 semapv:UnspecifiedMatching MONDO:0004851 toxic myocarditis skos:exactMatch UMLS:C0155691 semapv:UnspecifiedMatching MONDO:0004852 gonococcal keratitis skos:exactMatch DOID:9697 gonococcal keratitis semapv:UnspecifiedMatching MONDO:0004852 gonococcal keratitis skos:exactMatch ICD10CM:A54.33 Gonococcal keratitis semapv:UnspecifiedMatching MONDO:0004852 gonococcal keratitis skos:exactMatch SCTID:40149008 semapv:UnspecifiedMatching MONDO:0004852 gonococcal keratitis skos:exactMatch UMLS:C0153214 semapv:UnspecifiedMatching MONDO:0004853 gonococcal endophthalmia skos:exactMatch DOID:9698 gonococcal endophthalmia semapv:UnspecifiedMatching MONDO:0004853 gonococcal endophthalmia skos:exactMatch SCTID:111807001 semapv:UnspecifiedMatching MONDO:0004853 gonococcal endophthalmia skos:exactMatch UMLS:C0153213 semapv:UnspecifiedMatching MONDO:0004854 ophthalmia neonatorum skos:exactMatch DOID:9699 ophthalmia neonatorum semapv:UnspecifiedMatching MONDO:0004854 ophthalmia neonatorum skos:exactMatch NCIT:C116815 Ophthalmia Neonatorum semapv:UnspecifiedMatching MONDO:0004854 ophthalmia neonatorum skos:exactMatch SCTID:34298002 semapv:UnspecifiedMatching MONDO:0004854 ophthalmia neonatorum skos:exactMatch UMLS:C0029076 semapv:UnspecifiedMatching MONDO:0004854 ophthalmia neonatorum skos:exactMatch mesh:D009878 semapv:UnspecifiedMatching MONDO:0004855 tenosynovitis skos:exactMatch DOID:970 tenosynovitis semapv:UnspecifiedMatching MONDO:0004855 tenosynovitis skos:exactMatch SCTID:67801009 semapv:UnspecifiedMatching MONDO:0004855 tenosynovitis skos:exactMatch UMLS:C0039520 semapv:UnspecifiedMatching MONDO:0004855 tenosynovitis skos:exactMatch mesh:D013717 semapv:UnspecifiedMatching MONDO:0004856 rosacea conjunctivitis skos:exactMatch DOID:9709 rosacea conjunctivitis semapv:UnspecifiedMatching MONDO:0004856 rosacea conjunctivitis skos:exactMatch SCTID:10128002 semapv:UnspecifiedMatching MONDO:0004856 rosacea conjunctivitis skos:exactMatch UMLS:C0155152 semapv:UnspecifiedMatching MONDO:0004857 tendinitis skos:exactMatch DOID:971 tendinitis semapv:UnspecifiedMatching MONDO:0004857 tendinitis skos:exactMatch NCIT:C97141 Tendonitis semapv:UnspecifiedMatching MONDO:0004857 tendinitis skos:exactMatch SCTID:34840004 semapv:UnspecifiedMatching MONDO:0004857 tendinitis skos:exactMatch UMLS:C0039503 semapv:UnspecifiedMatching MONDO:0004858 occlusion of gallbladder skos:exactMatch DOID:9714 occlusion of gallbladder semapv:UnspecifiedMatching MONDO:0004858 occlusion of gallbladder skos:exactMatch ICD10CM:K82.0 Obstruction of gallbladder semapv:UnspecifiedMatching MONDO:0004858 occlusion of gallbladder skos:exactMatch SCTID:197416005 semapv:UnspecifiedMatching MONDO:0004858 occlusion of gallbladder skos:exactMatch UMLS:C0156214 semapv:UnspecifiedMatching MONDO:0004859 hydrops of gallbladder skos:exactMatch DOID:9717 hydrops of gallbladder semapv:UnspecifiedMatching MONDO:0004859 hydrops of gallbladder skos:exactMatch ICD10CM:K82.1 Hydrops of gallbladder semapv:UnspecifiedMatching MONDO:0004859 hydrops of gallbladder skos:exactMatch SCTID:47312008 semapv:UnspecifiedMatching MONDO:0004859 hydrops of gallbladder skos:exactMatch UMLS:C0152445 semapv:UnspecifiedMatching MONDO:0004860 vitreous disorder skos:exactMatch DOID:9720 vitreous disease semapv:UnspecifiedMatching MONDO:0004861 ophthalmia nodosa skos:exactMatch DOID:9722 ophthalmia nodosa semapv:UnspecifiedMatching MONDO:0004861 ophthalmia nodosa skos:exactMatch SCTID:12371008 semapv:UnspecifiedMatching MONDO:0004861 ophthalmia nodosa skos:exactMatch UMLS:C0154775 semapv:UnspecifiedMatching MONDO:0004862 vitreous abscess skos:exactMatch DOID:9723 vitreous abscess semapv:UnspecifiedMatching MONDO:0004862 vitreous abscess skos:exactMatch SCTID:48142003 semapv:UnspecifiedMatching MONDO:0004862 vitreous abscess skos:exactMatch UMLS:C0042904 semapv:UnspecifiedMatching MONDO:0004863 purulent endophthalmitis skos:exactMatch DOID:9724 purulent endophthalmitis semapv:UnspecifiedMatching MONDO:0004863 purulent endophthalmitis skos:exactMatch ICD10CM:H44.0 Purulent endophthalmitis semapv:UnspecifiedMatching MONDO:0004863 purulent endophthalmitis skos:exactMatch SCTID:41720003 semapv:UnspecifiedMatching MONDO:0004863 purulent endophthalmitis skos:exactMatch UMLS:C0259800 semapv:UnspecifiedMatching MONDO:0004864 acute allergic mucoid otitis media skos:exactMatch DOID:9735 acute allergic mucoid otitis media semapv:UnspecifiedMatching MONDO:0004864 acute allergic mucoid otitis media skos:exactMatch SCTID:8326008 semapv:UnspecifiedMatching MONDO:0004864 acute allergic mucoid otitis media skos:exactMatch UMLS:C0155419 semapv:UnspecifiedMatching MONDO:0004865 blue drum syndrome skos:exactMatch DOID:9736 blue drum syndrome semapv:UnspecifiedMatching MONDO:0004865 blue drum syndrome skos:exactMatch SCTID:52353000 semapv:UnspecifiedMatching MONDO:0004865 blue drum syndrome skos:exactMatch UMLS:C0395863 semapv:UnspecifiedMatching MONDO:0004866 eustachian tube disorder skos:exactMatch DOID:9739 eustachian tube disease semapv:UnspecifiedMatching MONDO:0004866 eustachian tube disorder skos:exactMatch ICD10CM:H68 Eustachian salpingitis and obstruction semapv:UnspecifiedMatching MONDO:0004866 eustachian tube disorder skos:exactMatch SCTID:69494008 semapv:UnspecifiedMatching MONDO:0004866 eustachian tube disorder skos:exactMatch UMLS:C0271468 semapv:UnspecifiedMatching MONDO:0004867 upper respiratory tract disorder skos:exactMatch DOID:974 upper respiratory tract disease semapv:UnspecifiedMatching MONDO:0004867 upper respiratory tract disorder skos:exactMatch SCTID:201060008 semapv:UnspecifiedMatching MONDO:0004868 biliary tract disorder skos:exactMatch DOID:9741 biliary tract disease semapv:UnspecifiedMatching MONDO:0004868 biliary tract disorder skos:exactMatch SCTID:105997008 semapv:UnspecifiedMatching MONDO:0004868 biliary tract disorder skos:exactMatch mesh:D001660 semapv:UnspecifiedMatching MONDO:0004869 pelvic varices skos:exactMatch DOID:9742 pelvic varices semapv:UnspecifiedMatching MONDO:0004869 pelvic varices skos:exactMatch ICD10CM:I86.2 Pelvic varices semapv:UnspecifiedMatching MONDO:0004869 pelvic varices skos:exactMatch SCTID:17406005 semapv:UnspecifiedMatching MONDO:0004869 pelvic varices skos:exactMatch UMLS:C0155795 semapv:UnspecifiedMatching MONDO:0004871 perianal hematoma skos:exactMatch DOID:9745 perianal hematoma semapv:UnspecifiedMatching MONDO:0004871 perianal hematoma skos:exactMatch SCTID:26373009 semapv:UnspecifiedMatching MONDO:0004872 hemorrhoid skos:exactMatch DOID:9746 hemorrhoid semapv:UnspecifiedMatching MONDO:0004872 hemorrhoid skos:exactMatch NCIT:C26792 Hemorrhoid semapv:UnspecifiedMatching MONDO:0004872 hemorrhoid skos:exactMatch SCTID:70153002 semapv:UnspecifiedMatching MONDO:0004872 hemorrhoid skos:exactMatch UMLS:C0019112 semapv:UnspecifiedMatching MONDO:0004872 hemorrhoid skos:exactMatch mesh:D006484 semapv:UnspecifiedMatching MONDO:0004873 internal hemorrhoid skos:exactMatch DOID:9749 internal hemorrhoid semapv:UnspecifiedMatching MONDO:0004873 internal hemorrhoid skos:exactMatch NCIT:C35319 Internal Hemorrhoid semapv:UnspecifiedMatching MONDO:0004873 internal hemorrhoid skos:exactMatch SCTID:90458007 semapv:UnspecifiedMatching MONDO:0004873 internal hemorrhoid skos:exactMatch UMLS:C0265034 semapv:UnspecifiedMatching MONDO:0004874 ganglion or cyst of synovium/tendon/bursa skos:exactMatch DOID:9754 ganglion or cyst of synovium/tendon/bursa semapv:UnspecifiedMatching MONDO:0004875 xanthogranulomatous cholecystitis skos:exactMatch DOID:9766 xanthogranulomatous cholecystitis semapv:UnspecifiedMatching MONDO:0004875 xanthogranulomatous cholecystitis skos:exactMatch NCIT:C35792 Xanthogranulomatous Cholecystitis semapv:UnspecifiedMatching MONDO:0004875 xanthogranulomatous cholecystitis skos:exactMatch SCTID:448286002 semapv:UnspecifiedMatching MONDO:0004875 xanthogranulomatous cholecystitis skos:exactMatch UMLS:C1337035 semapv:UnspecifiedMatching MONDO:0004875 xanthogranulomatous cholecystitis skos:exactMatch mesh:C536762 semapv:UnspecifiedMatching MONDO:0004876 myocardial stunning skos:exactMatch DOID:9767 myocardial stunning semapv:UnspecifiedMatching MONDO:0004876 myocardial stunning skos:exactMatch UMLS:C0206146 semapv:UnspecifiedMatching MONDO:0004876 myocardial stunning skos:exactMatch mesh:D017682 semapv:UnspecifiedMatching MONDO:0004877 transient neonatal thrombocytopenia skos:exactMatch DOID:9771 transient neonatal thrombocytopenia semapv:UnspecifiedMatching MONDO:0004877 transient neonatal thrombocytopenia skos:exactMatch ICD10CM:P61.0 Transient neonatal thrombocytopenia semapv:UnspecifiedMatching MONDO:0004877 transient neonatal thrombocytopenia skos:exactMatch SCTID:23205009 semapv:UnspecifiedMatching MONDO:0004877 transient neonatal thrombocytopenia skos:exactMatch UMLS:C0158991 semapv:UnspecifiedMatching MONDO:0004878 female breast upper-outer quadrant cancer skos:exactMatch DOID:9773 female breast upper-outer quadrant cancer semapv:UnspecifiedMatching MONDO:0004878 female breast upper-outer quadrant cancer skos:exactMatch SCTID:188154003 semapv:UnspecifiedMatching MONDO:0004878 female breast upper-outer quadrant cancer skos:exactMatch UMLS:C0153552 semapv:UnspecifiedMatching MONDO:0004879 senile atrophy of choroid skos:exactMatch DOID:9776 Senile atrophy of choroid semapv:UnspecifiedMatching MONDO:0004879 senile atrophy of choroid skos:exactMatch SCTID:38513001 semapv:UnspecifiedMatching MONDO:0004879 senile atrophy of choroid skos:exactMatch UMLS:C0154891 semapv:UnspecifiedMatching MONDO:0004880 bowel dysfunction skos:exactMatch DOID:9779 bowel dysfunction semapv:UnspecifiedMatching MONDO:0004880 bowel dysfunction skos:exactMatch SCTID:235594008 semapv:UnspecifiedMatching MONDO:0004880 bowel dysfunction skos:exactMatch UMLS:C2004461 semapv:UnspecifiedMatching MONDO:0004881 myositis fibrosa skos:exactMatch DOID:9788 myositis fibrosa semapv:UnspecifiedMatching MONDO:0004881 myositis fibrosa skos:exactMatch ICD10CM:M60.1 Interstitial myositis semapv:UnspecifiedMatching MONDO:0004881 myositis fibrosa skos:exactMatch NCIT:C26985 Interstitial Myositis semapv:UnspecifiedMatching MONDO:0004881 myositis fibrosa skos:exactMatch SCTID:55925001 semapv:UnspecifiedMatching MONDO:0004881 myositis fibrosa skos:exactMatch UMLS:C0158362 semapv:UnspecifiedMatching MONDO:0004882 angioid streaks of choroid skos:exactMatch DOID:979 angioid streaks of choroid semapv:UnspecifiedMatching MONDO:0004882 angioid streaks of choroid skos:exactMatch SCTID:86103006 semapv:UnspecifiedMatching MONDO:0004882 angioid streaks of choroid skos:exactMatch UMLS:C0002983 semapv:UnspecifiedMatching MONDO:0004883 hereditary choroidal atrophy skos:exactMatch DOID:9794 hereditary choroidal atrophy semapv:UnspecifiedMatching MONDO:0004883 hereditary choroidal atrophy skos:exactMatch SCTID:74469006 semapv:UnspecifiedMatching MONDO:0004883 hereditary choroidal atrophy skos:exactMatch UMLS:C0154893 semapv:UnspecifiedMatching MONDO:0004884 eye degenerative disorder skos:exactMatch DOID:9799 eye degenerative disease semapv:UnspecifiedMatching MONDO:0004884 eye degenerative disorder skos:exactMatch ICD10CM:H44.5 Degenerated conditions of globe semapv:UnspecifiedMatching MONDO:0004884 eye degenerative disorder skos:exactMatch SCTID:62585004 semapv:UnspecifiedMatching MONDO:0004884 eye degenerative disorder skos:exactMatch UMLS:C0154777 semapv:UnspecifiedMatching MONDO:0004885 choroidal sclerosis skos:exactMatch DOID:980 choroidal sclerosis semapv:UnspecifiedMatching MONDO:0004885 choroidal sclerosis skos:exactMatch SCTID:406446000 semapv:UnspecifiedMatching MONDO:0004885 choroidal sclerosis skos:exactMatch mesh:C535358 semapv:UnspecifiedMatching MONDO:0004886 diffuse secondary choroid atrophy skos:exactMatch DOID:981 diffuse secondary choroid atrophy semapv:UnspecifiedMatching MONDO:0004886 diffuse secondary choroid atrophy skos:exactMatch SCTID:193463006 semapv:UnspecifiedMatching MONDO:0004886 diffuse secondary choroid atrophy skos:exactMatch UMLS:C0154892 semapv:UnspecifiedMatching MONDO:0004888 partial circumpapillary choroid dystrophy skos:exactMatch DOID:9811 partial circumpapillary choroid dystrophy semapv:UnspecifiedMatching MONDO:0004888 partial circumpapillary choroid dystrophy skos:exactMatch SCTID:193466003 semapv:UnspecifiedMatching MONDO:0004888 partial circumpapillary choroid dystrophy skos:exactMatch UMLS:C0154895 semapv:UnspecifiedMatching MONDO:0004889 total central choroidal atrophy skos:exactMatch DOID:9820 central gyrate choroidal dystrophy semapv:UnspecifiedMatching MONDO:0004889 total central choroidal atrophy skos:exactMatch SCTID:392049002 semapv:UnspecifiedMatching MONDO:0004889 total central choroidal atrophy skos:exactMatch UMLS:C0154898 semapv:UnspecifiedMatching MONDO:0004890 partial central choroid dystrophy skos:exactMatch DOID:9822 partial central choroid dystrophy semapv:UnspecifiedMatching MONDO:0004890 partial central choroid dystrophy skos:exactMatch SCTID:193468002 semapv:UnspecifiedMatching MONDO:0004890 partial central choroid dystrophy skos:exactMatch UMLS:C0339427 semapv:UnspecifiedMatching MONDO:0004891 hyperopia skos:exactMatch DOID:9834 hyperopia semapv:UnspecifiedMatching MONDO:0004891 hyperopia skos:exactMatch ICD10CM:H52.0 Hypermetropia semapv:UnspecifiedMatching MONDO:0004891 hyperopia skos:exactMatch SCTID:38101003 semapv:UnspecifiedMatching MONDO:0004891 hyperopia skos:exactMatch UMLS:C0020490 semapv:UnspecifiedMatching MONDO:0004891 hyperopia skos:exactMatch mesh:D006956 semapv:UnspecifiedMatching MONDO:0004892 refractive error skos:exactMatch DOID:9835 refractive error semapv:UnspecifiedMatching MONDO:0004892 refractive error skos:exactMatch SCTID:39021009 semapv:UnspecifiedMatching MONDO:0004892 refractive error skos:exactMatch mesh:D012030 semapv:UnspecifiedMatching MONDO:0004893 hypertropia skos:exactMatch DOID:9837 hypertropia semapv:UnspecifiedMatching MONDO:0004893 hypertropia skos:exactMatch NCIT:C34716 Hypertropia semapv:UnspecifiedMatching MONDO:0004893 hypertropia skos:exactMatch SCTID:40608009 semapv:UnspecifiedMatching MONDO:0004893 hypertropia skos:exactMatch UMLS:C0020575 semapv:UnspecifiedMatching MONDO:0004894 cyclotropia skos:exactMatch DOID:9838 cyclotropia semapv:UnspecifiedMatching MONDO:0004894 cyclotropia skos:exactMatch SCTID:70486007 semapv:UnspecifiedMatching MONDO:0004894 cyclotropia skos:exactMatch UMLS:C0152209 semapv:UnspecifiedMatching MONDO:0004895 accommodative esotropia skos:exactMatch DOID:9839 accommodative esotropia semapv:UnspecifiedMatching MONDO:0004895 accommodative esotropia skos:exactMatch SCTID:419494007 semapv:UnspecifiedMatching MONDO:0004895 accommodative esotropia skos:exactMatch UMLS:C0155336 semapv:UnspecifiedMatching MONDO:0004896 esotropia skos:exactMatch DOID:9840 esotropia semapv:UnspecifiedMatching MONDO:0004896 esotropia skos:exactMatch NCIT:C34596 Internal Strabismus semapv:UnspecifiedMatching MONDO:0004896 esotropia skos:exactMatch SCTID:16596007 semapv:UnspecifiedMatching MONDO:0004896 esotropia skos:exactMatch UMLS:C0014877 semapv:UnspecifiedMatching MONDO:0004896 esotropia skos:exactMatch mesh:D004948 semapv:UnspecifiedMatching MONDO:0004897 hypotropia skos:exactMatch DOID:9841 hypotropia semapv:UnspecifiedMatching MONDO:0004897 hypotropia skos:exactMatch NCIT:C42086 Downward Ocular Deviation semapv:UnspecifiedMatching MONDO:0004897 hypotropia skos:exactMatch SCTID:29491004 semapv:UnspecifiedMatching MONDO:0004897 hypotropia skos:exactMatch UMLS:C0152208 semapv:UnspecifiedMatching MONDO:0004898 total circumpapillary dystrophy of choroid skos:exactMatch DOID:9842 total circumpapillary dystrophy of choroid semapv:UnspecifiedMatching MONDO:0004898 total circumpapillary dystrophy of choroid skos:exactMatch SCTID:59753003 semapv:UnspecifiedMatching MONDO:0004898 total circumpapillary dystrophy of choroid skos:exactMatch UMLS:C0154896 semapv:UnspecifiedMatching MONDO:0004899 monofixation syndrome skos:exactMatch DOID:9843 monofixation syndrome semapv:UnspecifiedMatching MONDO:0004899 monofixation syndrome skos:exactMatch ICD10CM:H50.42 Monofixation syndrome semapv:UnspecifiedMatching MONDO:0004899 monofixation syndrome skos:exactMatch SCTID:14785004 semapv:UnspecifiedMatching MONDO:0004899 monofixation syndrome skos:exactMatch UMLS:C0339611 semapv:UnspecifiedMatching MONDO:0004900 peripheral vertigo skos:exactMatch DOID:9847 peripheral vertigo semapv:UnspecifiedMatching MONDO:0004900 peripheral vertigo skos:exactMatch SCTID:50438001 semapv:UnspecifiedMatching MONDO:0004900 peripheral vertigo skos:exactMatch UMLS:C0155501 semapv:UnspecifiedMatching MONDO:0004901 lingual-facial-buccal dyskinesia skos:exactMatch DOID:9854 lingual-facial-buccal dyskinesia semapv:UnspecifiedMatching MONDO:0004901 lingual-facial-buccal dyskinesia skos:exactMatch SCTID:49386006 semapv:UnspecifiedMatching MONDO:0004901 lingual-facial-buccal dyskinesia skos:exactMatch UMLS:C0152115 semapv:UnspecifiedMatching MONDO:0004902 interstitial keratitis skos:exactMatch DOID:9857 interstitial keratitis semapv:UnspecifiedMatching MONDO:0004902 interstitial keratitis skos:exactMatch UMLS:C0155088 semapv:UnspecifiedMatching MONDO:0004903 deep keratitis skos:exactMatch DOID:9858 deep keratitis semapv:UnspecifiedMatching MONDO:0004903 deep keratitis skos:exactMatch SCTID:445741003 semapv:UnspecifiedMatching MONDO:0004903 deep keratitis skos:exactMatch UMLS:C2960633 semapv:UnspecifiedMatching MONDO:0004904 toxic maculopathy skos:exactMatch DOID:9867 toxic maculopathy semapv:UnspecifiedMatching MONDO:0004904 toxic maculopathy skos:exactMatch SCTID:44115007 semapv:UnspecifiedMatching MONDO:0004904 toxic maculopathy skos:exactMatch UMLS:C0271086 semapv:UnspecifiedMatching MONDO:0004905 intestinal disaccharidase deficiency skos:exactMatch DOID:9868 intestinal disaccharidase deficiency semapv:UnspecifiedMatching MONDO:0004905 intestinal disaccharidase deficiency skos:exactMatch NCIT:C34731 Intestinal Disaccharidase Deficiency and Disaccharide Malabsorption semapv:UnspecifiedMatching MONDO:0004905 intestinal disaccharidase deficiency skos:exactMatch SCTID:22169002 semapv:UnspecifiedMatching MONDO:0004907 alopecia skos:exactMatch DOID:987 alopecia semapv:UnspecifiedMatching MONDO:0004907 alopecia skos:exactMatch NCIT:C50575 Alopecia semapv:UnspecifiedMatching MONDO:0004907 alopecia skos:exactMatch Orphanet:79364 Alopecia semapv:UnspecifiedMatching MONDO:0004907 alopecia skos:exactMatch SCTID:56317004 semapv:UnspecifiedMatching MONDO:0004907 alopecia skos:exactMatch UMLS:C0002170 semapv:UnspecifiedMatching MONDO:0004907 alopecia skos:exactMatch mesh:D000505 semapv:UnspecifiedMatching MONDO:0004909 urethral gland abscess skos:exactMatch DOID:9877 urethral gland abscess semapv:UnspecifiedMatching MONDO:0004909 urethral gland abscess skos:exactMatch SCTID:444820005 semapv:UnspecifiedMatching MONDO:0004910 mitral valve prolapse skos:exactMatch DOID:988 mitral valve prolapse semapv:UnspecifiedMatching MONDO:0004910 mitral valve prolapse skos:exactMatch NCIT:C50655 Mitral Valve Prolapse semapv:UnspecifiedMatching MONDO:0004910 mitral valve prolapse skos:exactMatch SCTID:409712001 semapv:UnspecifiedMatching MONDO:0004910 mitral valve prolapse skos:exactMatch mesh:D008945 semapv:UnspecifiedMatching MONDO:0004911 cardiovascular syphilis skos:exactMatch DOID:9880 cardiovascular syphilis semapv:UnspecifiedMatching MONDO:0004911 cardiovascular syphilis skos:exactMatch SCTID:83883001 semapv:UnspecifiedMatching MONDO:0004911 cardiovascular syphilis skos:exactMatch UMLS:C0039130 semapv:UnspecifiedMatching MONDO:0004913 alternating esotropia skos:exactMatch DOID:9888 alternating esotropia semapv:UnspecifiedMatching MONDO:0004913 alternating esotropia skos:exactMatch ICD10CM:H50.05 Alternating esotropia semapv:UnspecifiedMatching MONDO:0004913 alternating esotropia skos:exactMatch SCTID:39837002 semapv:UnspecifiedMatching MONDO:0004913 alternating esotropia skos:exactMatch UMLS:C0152205 semapv:UnspecifiedMatching MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm skos:exactMatch DOID:9892 median arcuate ligament syndrome semapv:UnspecifiedMatching MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm skos:exactMatch OMIM:116870 celiac artery stenosis from compression by median arcuate ligament of diaphragm semapv:UnspecifiedMatching MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm skos:exactMatch SCTID:9250002 semapv:UnspecifiedMatching MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm skos:exactMatch UMLS:C1861783 semapv:UnspecifiedMatching MONDO:0004917 internal hordeolum skos:exactMatch DOID:9908 internal hordeolum semapv:UnspecifiedMatching MONDO:0004917 internal hordeolum skos:exactMatch SCTID:414521009 semapv:UnspecifiedMatching MONDO:0004917 internal hordeolum skos:exactMatch UMLS:C0085690 semapv:UnspecifiedMatching MONDO:0004918 central corneal ulcer skos:exactMatch DOID:9910 central corneal ulcer semapv:UnspecifiedMatching MONDO:0004918 central corneal ulcer skos:exactMatch SCTID:7426009 semapv:UnspecifiedMatching MONDO:0004918 central corneal ulcer skos:exactMatch UMLS:C0155069 semapv:UnspecifiedMatching MONDO:0004919 infected hydrocele skos:exactMatch DOID:9911 infected hydrocele semapv:UnspecifiedMatching MONDO:0004919 infected hydrocele skos:exactMatch ICD10CM:N43.1 Infected hydrocele semapv:UnspecifiedMatching MONDO:0004919 infected hydrocele skos:exactMatch SCTID:11666007 semapv:UnspecifiedMatching MONDO:0004919 infected hydrocele skos:exactMatch UMLS:C0156300 semapv:UnspecifiedMatching MONDO:0004920 hydrocele skos:exactMatch DOID:9912 hydrocele semapv:UnspecifiedMatching MONDO:0004920 hydrocele skos:exactMatch SCTID:55434001 semapv:UnspecifiedMatching MONDO:0004922 developmental coordination disorder skos:exactMatch DOID:9923 developmental coordination disorder semapv:UnspecifiedMatching MONDO:0004922 developmental coordination disorder skos:exactMatch NCIT:C92561 Developmental Coordination Disorder semapv:UnspecifiedMatching MONDO:0004922 developmental coordination disorder skos:exactMatch SCTID:27544004 semapv:UnspecifiedMatching MONDO:0004922 developmental coordination disorder skos:exactMatch UMLS:C0011757 semapv:UnspecifiedMatching MONDO:0004922 developmental coordination disorder skos:exactMatch mesh:D019957 semapv:UnspecifiedMatching MONDO:0004923 chronic inflammation of lacrimal passage skos:exactMatch DOID:9935 chronic inflammation of lacrimal passage semapv:UnspecifiedMatching MONDO:0004923 chronic inflammation of lacrimal passage skos:exactMatch SCTID:267653001 semapv:UnspecifiedMatching MONDO:0004923 chronic inflammation of lacrimal passage skos:exactMatch UMLS:C0155239 semapv:UnspecifiedMatching MONDO:0004924 chronic canaliculitis skos:exactMatch DOID:9936 chronic canaliculitis semapv:UnspecifiedMatching MONDO:0004924 chronic canaliculitis skos:exactMatch SCTID:26479009 semapv:UnspecifiedMatching MONDO:0004924 chronic canaliculitis skos:exactMatch UMLS:C0155240 semapv:UnspecifiedMatching MONDO:0004925 chronic dacryocystitis skos:exactMatch DOID:9937 chronic dacryocystitis semapv:UnspecifiedMatching MONDO:0004925 chronic dacryocystitis skos:exactMatch SCTID:84627005 semapv:UnspecifiedMatching MONDO:0004925 chronic dacryocystitis skos:exactMatch UMLS:C0149506 semapv:UnspecifiedMatching MONDO:0004926 dacryocystitis skos:exactMatch DOID:9938 dacryocystitis semapv:UnspecifiedMatching MONDO:0004926 dacryocystitis skos:exactMatch NCIT:C34521 Dacryocystitis semapv:UnspecifiedMatching MONDO:0004926 dacryocystitis skos:exactMatch SCTID:85777005 semapv:UnspecifiedMatching MONDO:0004926 dacryocystitis skos:exactMatch UMLS:C0010930 semapv:UnspecifiedMatching MONDO:0004926 dacryocystitis skos:exactMatch mesh:D003607 semapv:UnspecifiedMatching MONDO:0004927 dacryocystocele skos:exactMatch DOID:9939 dacryocystocele semapv:UnspecifiedMatching MONDO:0004928 lymph node disorder skos:exactMatch DOID:9942 lymph node disease semapv:UnspecifiedMatching MONDO:0004928 lymph node disorder skos:exactMatch NCIT:C35346 Lymph Node Disorder semapv:UnspecifiedMatching MONDO:0004928 lymph node disorder skos:exactMatch SCTID:76616003 semapv:UnspecifiedMatching MONDO:0004928 lymph node disorder skos:exactMatch UMLS:C0272394 semapv:UnspecifiedMatching MONDO:0004929 constant exophthalmos skos:exactMatch DOID:9945 constant exophthalmos semapv:UnspecifiedMatching MONDO:0004929 constant exophthalmos skos:exactMatch SCTID:89907009 semapv:UnspecifiedMatching MONDO:0004929 constant exophthalmos skos:exactMatch UMLS:C0155267 semapv:UnspecifiedMatching MONDO:0004930 steroid-induced glaucoma skos:exactMatch DOID:9946 steroid-induced glaucoma semapv:UnspecifiedMatching MONDO:0004930 steroid-induced glaucoma skos:exactMatch SCTID:1654001 semapv:UnspecifiedMatching MONDO:0004930 steroid-induced glaucoma skos:exactMatch UMLS:C0339578 semapv:UnspecifiedMatching MONDO:0004931 residual stage corticosteroid-induced glaucoma skos:exactMatch DOID:9948 residual stage corticosteroid-induced glaucoma semapv:UnspecifiedMatching MONDO:0004931 residual stage corticosteroid-induced glaucoma skos:exactMatch SCTID:193549003 semapv:UnspecifiedMatching MONDO:0004931 residual stage corticosteroid-induced glaucoma skos:exactMatch UMLS:C0339580 semapv:UnspecifiedMatching MONDO:0004932 null-cell leukemia skos:exactMatch DOID:9954 null-cell leukemia semapv:UnspecifiedMatching MONDO:0004932 null-cell leukemia skos:exactMatch SCTID:277574007 semapv:UnspecifiedMatching MONDO:0004932 null-cell leukemia skos:exactMatch UMLS:C0023483 semapv:UnspecifiedMatching MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch DOID:9955 hypoplastic left heart syndrome semapv:UnspecifiedMatching MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch ICD10CM:Q23.4 Hypoplastic left heart syndrome semapv:UnspecifiedMatching MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch NCIT:C98894 Hypoplastic Left Heart Syndrome semapv:UnspecifiedMatching MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch OMIMPS:241550 semapv:UnspecifiedMatching MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:UnspecifiedMatching MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch SCTID:62067003 semapv:UnspecifiedMatching MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch UMLS:C0152101 semapv:UnspecifiedMatching MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch mesh:D018636 semapv:UnspecifiedMatching MONDO:0004934 periostitis skos:exactMatch DOID:9957 periostitis semapv:UnspecifiedMatching MONDO:0004934 periostitis skos:exactMatch NCIT:C13184 Periosteum semapv:UnspecifiedMatching MONDO:0004934 periostitis skos:exactMatch SCTID:41910004 semapv:UnspecifiedMatching MONDO:0004934 periostitis skos:exactMatch UMLS:C0031111 semapv:UnspecifiedMatching MONDO:0004934 periostitis skos:exactMatch mesh:D010522 semapv:UnspecifiedMatching MONDO:0004936 uterine inversion skos:exactMatch DOID:997 uterine inversion semapv:UnspecifiedMatching MONDO:0004936 uterine inversion skos:exactMatch SCTID:27215002 semapv:UnspecifiedMatching MONDO:0004936 uterine inversion skos:exactMatch mesh:D019687 semapv:UnspecifiedMatching MONDO:0004937 hypervitaminosis D skos:exactMatch DOID:9971 hypervitaminosis D semapv:UnspecifiedMatching MONDO:0004937 hypervitaminosis D skos:exactMatch ICD10CM:E67.3 Hypervitaminosis D semapv:UnspecifiedMatching MONDO:0004937 hypervitaminosis D skos:exactMatch SCTID:27712000 semapv:UnspecifiedMatching MONDO:0004937 hypervitaminosis D skos:exactMatch UMLS:C1442839 semapv:UnspecifiedMatching MONDO:0004938 substance dependence skos:exactMatch DOID:9973 substance dependence semapv:UnspecifiedMatching MONDO:0004938 substance dependence skos:exactMatch NCIT:C35458 Dependence semapv:UnspecifiedMatching MONDO:0004938 substance dependence skos:exactMatch SCTID:2403008 semapv:UnspecifiedMatching MONDO:0004939 hallucinogen dependence skos:exactMatch DOID:9977 hallucinogen dependence semapv:UnspecifiedMatching MONDO:0004939 hallucinogen dependence skos:exactMatch NCIT:C34657 Hallucinogen Dependence semapv:UnspecifiedMatching MONDO:0004939 hallucinogen dependence skos:exactMatch SCTID:38247002 semapv:UnspecifiedMatching MONDO:0004940 acute female pelvic peritonitis skos:exactMatch DOID:9978 acute female pelvic peritonitis semapv:UnspecifiedMatching MONDO:0004940 acute female pelvic peritonitis skos:exactMatch ICD10CM:N73.3 Female acute pelvic peritonitis semapv:UnspecifiedMatching MONDO:0004940 acute female pelvic peritonitis skos:exactMatch SCTID:85051008 semapv:UnspecifiedMatching MONDO:0004940 acute female pelvic peritonitis skos:exactMatch UMLS:C0269032 semapv:UnspecifiedMatching MONDO:0004941 eosinophilia-myalgia syndrome skos:exactMatch DOID:998 eosinophilia-myalgia syndrome semapv:UnspecifiedMatching MONDO:0004941 eosinophilia-myalgia syndrome skos:exactMatch SCTID:95416007 semapv:UnspecifiedMatching MONDO:0004941 eosinophilia-myalgia syndrome skos:exactMatch mesh:D016603 semapv:UnspecifiedMatching MONDO:0004942 orbit lymphoma skos:exactMatch DOID:9986 orbit lymphoma semapv:UnspecifiedMatching MONDO:0004942 orbit lymphoma skos:exactMatch NCIT:C6244 Orbit Lymphoma semapv:UnspecifiedMatching MONDO:0004942 orbit lymphoma skos:exactMatch SCTID:13048006 semapv:UnspecifiedMatching MONDO:0004942 orbit lymphoma skos:exactMatch UMLS:C0271333 semapv:UnspecifiedMatching MONDO:0004942 orbit lymphoma skos:exactMatch mesh:C537131 semapv:UnspecifiedMatching MONDO:0004943 orbit sarcoma skos:exactMatch DOID:9987 orbit sarcoma semapv:UnspecifiedMatching MONDO:0004943 orbit sarcoma skos:exactMatch NCIT:C6095 Orbit Sarcoma semapv:UnspecifiedMatching MONDO:0004943 orbit sarcoma skos:exactMatch SCTID:699354006 semapv:UnspecifiedMatching MONDO:0004943 orbit sarcoma skos:exactMatch UMLS:C1335131 semapv:UnspecifiedMatching MONDO:0004944 neurosyphilis skos:exactMatch DOID:9988 tertiary neurosyphilis semapv:UnspecifiedMatching MONDO:0004944 neurosyphilis skos:exactMatch ICD10CM:A52.3 Neurosyphilis, unspecified semapv:UnspecifiedMatching MONDO:0004944 neurosyphilis skos:exactMatch NCIT:C84935 Neurosyphilis semapv:UnspecifiedMatching MONDO:0004944 neurosyphilis skos:exactMatch SCTID:26039008 semapv:UnspecifiedMatching MONDO:0004944 neurosyphilis skos:exactMatch UMLS:C0027927 semapv:UnspecifiedMatching MONDO:0004944 neurosyphilis skos:exactMatch mesh:D009494 semapv:UnspecifiedMatching MONDO:0004946 hypoglycemia skos:exactMatch DOID:9993 hypoglycemia semapv:UnspecifiedMatching MONDO:0004946 hypoglycemia skos:exactMatch NCIT:C3126 Hypoglycemia semapv:UnspecifiedMatching MONDO:0004946 hypoglycemia skos:exactMatch SCTID:302866003 semapv:UnspecifiedMatching MONDO:0004946 hypoglycemia skos:exactMatch UMLS:C0020615 semapv:UnspecifiedMatching MONDO:0004946 hypoglycemia skos:exactMatch mesh:D007003 semapv:UnspecifiedMatching MONDO:0004947 B-cell acute lymphoblastic leukemia skos:exactMatch DOID:0080630 B-lymphoblastic leukemia/lymphoma semapv:UnspecifiedMatching MONDO:0004947 B-cell acute lymphoblastic leukemia skos:exactMatch NCIT:C8936 B Lymphoblastic Leukemia/Lymphoma semapv:UnspecifiedMatching MONDO:0004947 B-cell acute lymphoblastic leukemia skos:exactMatch SCTID:277571004 semapv:UnspecifiedMatching MONDO:0004948 B-cell chronic lymphocytic leukemia skos:exactMatch DOID:1040 chronic lymphocytic leukemia semapv:UnspecifiedMatching MONDO:0004948 B-cell chronic lymphocytic leukemia skos:exactMatch NCIT:C3163 Chronic Lymphocytic Leukemia semapv:UnspecifiedMatching MONDO:0004948 B-cell chronic lymphocytic leukemia skos:exactMatch OMIM:151400 leukemia, chronic lymphocytic semapv:UnspecifiedMatching MONDO:0004948 B-cell chronic lymphocytic leukemia skos:exactMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:UnspecifiedMatching MONDO:0004948 B-cell chronic lymphocytic leukemia skos:exactMatch UMLS:C0023434 semapv:UnspecifiedMatching MONDO:0004948 B-cell chronic lymphocytic leukemia skos:exactMatch mesh:D015451 semapv:UnspecifiedMatching MONDO:0004949 neoplasm of mature B-cells skos:exactMatch DOID:706 mature B-cell neoplasm semapv:UnspecifiedMatching MONDO:0004949 neoplasm of mature B-cells skos:exactMatch NCIT:C27910 Mature B-Cell Neoplasm semapv:UnspecifiedMatching MONDO:0004949 neoplasm of mature B-cells skos:exactMatch SCTID:269476000 semapv:UnspecifiedMatching MONDO:0004949 neoplasm of mature B-cells skos:exactMatch UMLS:C1334633 semapv:UnspecifiedMatching MONDO:0004950 gastric carcinoma skos:exactMatch DOID:10538 gastric fundus cancer semapv:UnspecifiedMatching MONDO:0004950 gastric carcinoma skos:exactMatch DOID:5517 stomach carcinoma semapv:UnspecifiedMatching MONDO:0004950 gastric carcinoma skos:exactMatch NCIT:C4911 Gastric Carcinoma semapv:UnspecifiedMatching MONDO:0004950 gastric carcinoma skos:exactMatch SCTID:187741001 semapv:UnspecifiedMatching MONDO:0004950 gastric carcinoma skos:exactMatch UMLS:C0699791 semapv:UnspecifiedMatching MONDO:0004951 susceptibility to HIV infection skos:exactMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:UnspecifiedMatching MONDO:0004951 susceptibility to HIV infection skos:exactMatch UMLS:C1836230 semapv:UnspecifiedMatching MONDO:0004952 Hodgkins lymphoma skos:exactMatch DOID:8567 Hodgkin's lymphoma semapv:UnspecifiedMatching MONDO:0004952 Hodgkins lymphoma skos:exactMatch NCIT:C9357 Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0004952 Hodgkins lymphoma skos:exactMatch Orphanet:98293 Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0004952 Hodgkins lymphoma skos:exactMatch mesh:D006689 semapv:UnspecifiedMatching MONDO:0004953 invasive ductal breast carcinoma skos:exactMatch DOID:3008 invasive ductal carcinoma semapv:UnspecifiedMatching MONDO:0004953 invasive ductal breast carcinoma skos:exactMatch NCIT:C4194 Invasive Breast Carcinoma of No Special Type semapv:UnspecifiedMatching MONDO:0004953 invasive ductal breast carcinoma skos:exactMatch SCTID:408643008 semapv:UnspecifiedMatching MONDO:0004956 metastatic prostate carcinoma skos:exactMatch NCIT:C8946 Metastatic Prostate Carcinoma semapv:UnspecifiedMatching MONDO:0004956 metastatic prostate carcinoma skos:exactMatch SCTID:314994000 semapv:UnspecifiedMatching MONDO:0004957 mucinous adenocarcinoma skos:exactMatch DOID:3030 mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0004957 mucinous adenocarcinoma skos:exactMatch NCIT:C26712 Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004957 mucinous adenocarcinoma skos:exactMatch UMLS:C0007130 semapv:UnspecifiedMatching MONDO:0004957 mucinous adenocarcinoma skos:exactMatch mesh:D002288 semapv:UnspecifiedMatching MONDO:0004958 oral cavity squamous cell carcinoma skos:exactMatch DOID:0050866 oral squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0004958 oral cavity squamous cell carcinoma skos:exactMatch NCIT:C4833 Oral Cavity Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004958 oral cavity squamous cell carcinoma skos:exactMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:UnspecifiedMatching MONDO:0004958 oral cavity squamous cell carcinoma skos:exactMatch SCTID:307502000 semapv:UnspecifiedMatching MONDO:0004958 oral cavity squamous cell carcinoma skos:exactMatch UMLS:C0585362 semapv:UnspecifiedMatching MONDO:0004959 plasma cell neoplasm skos:exactMatch DOID:6536 plasma cell neoplasm semapv:UnspecifiedMatching MONDO:0004959 plasma cell neoplasm skos:exactMatch NCIT:C4665 Plasma Cell Neoplasm semapv:UnspecifiedMatching MONDO:0004959 plasma cell neoplasm skos:exactMatch Orphanet:98282 Plasma cell tumor semapv:UnspecifiedMatching MONDO:0004959 plasma cell neoplasm skos:exactMatch SCTID:415111003 semapv:UnspecifiedMatching MONDO:0004959 plasma cell neoplasm skos:exactMatch UMLS:C1959632 semapv:UnspecifiedMatching MONDO:0004959 plasma cell neoplasm skos:exactMatch mesh:D054219 semapv:UnspecifiedMatching MONDO:0004960 monoclonal gammopathy skos:exactMatch ICD10CM:D47.2 Monoclonal gammopathy semapv:UnspecifiedMatching MONDO:0004960 monoclonal gammopathy skos:exactMatch NCIT:C35548 Monoclonal Gammopathy semapv:UnspecifiedMatching MONDO:0004960 monoclonal gammopathy skos:exactMatch SCTID:109983007 semapv:UnspecifiedMatching MONDO:0004960 monoclonal gammopathy skos:exactMatch mesh:D010265 semapv:UnspecifiedMatching MONDO:0004963 T-cell acute lymphoblastic leukemia skos:exactMatch NCIT:C3183 T Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified skos:exactMatch NCIT:C4340 Peripheral T-Cell Lymphoma, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0004965 acinar cell carcinoma skos:exactMatch DOID:3025 acinar cell carcinoma semapv:UnspecifiedMatching MONDO:0004965 acinar cell carcinoma skos:exactMatch NCIT:C3768 Acinar Cell Carcinoma semapv:UnspecifiedMatching MONDO:0004965 acinar cell carcinoma skos:exactMatch UMLS:C0206685 semapv:UnspecifiedMatching MONDO:0004965 acinar cell carcinoma skos:exactMatch mesh:D018267 semapv:UnspecifiedMatching MONDO:0004966 gastritis skos:exactMatch DOID:4029 gastritis semapv:UnspecifiedMatching MONDO:0004966 gastritis skos:exactMatch NCIT:C26780 Gastritis semapv:UnspecifiedMatching MONDO:0004966 gastritis skos:exactMatch SCTID:4556007 semapv:UnspecifiedMatching MONDO:0004966 gastritis skos:exactMatch UMLS:C0017152 semapv:UnspecifiedMatching MONDO:0004966 gastritis skos:exactMatch mesh:D005756 semapv:UnspecifiedMatching MONDO:0004967 acute lymphoblastic leukemia skos:exactMatch DOID:9952 acute lymphoblastic leukemia semapv:UnspecifiedMatching MONDO:0004967 acute lymphoblastic leukemia skos:exactMatch NCIT:C3167 Acute Lymphoblastic Leukemia semapv:UnspecifiedMatching MONDO:0004967 acute lymphoblastic leukemia skos:exactMatch Orphanet:513 Acute lymphoblastic leukemia semapv:UnspecifiedMatching MONDO:0004967 acute lymphoblastic leukemia skos:exactMatch SCTID:91857003 semapv:UnspecifiedMatching MONDO:0004970 adenocarcinoma skos:exactMatch DOID:299 adenocarcinoma semapv:UnspecifiedMatching MONDO:0004970 adenocarcinoma skos:exactMatch NCIT:C2852 Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004970 adenocarcinoma skos:exactMatch SCTID:443961001 semapv:UnspecifiedMatching MONDO:0004970 adenocarcinoma skos:exactMatch UMLS:C0001418 semapv:UnspecifiedMatching MONDO:0004970 adenocarcinoma skos:exactMatch mesh:D000230 semapv:UnspecifiedMatching MONDO:0004971 adenoid cystic carcinoma skos:exactMatch DOID:0080202 adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0004971 adenoid cystic carcinoma skos:exactMatch NCIT:C2970 Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0004971 adenoid cystic carcinoma skos:exactMatch UMLS:C0010606 semapv:UnspecifiedMatching MONDO:0004971 adenoid cystic carcinoma skos:exactMatch mesh:D003528 semapv:UnspecifiedMatching MONDO:0004972 adenoma skos:exactMatch DOID:657 adenoma semapv:UnspecifiedMatching MONDO:0004972 adenoma skos:exactMatch NCIT:C2855 Adenoma semapv:UnspecifiedMatching MONDO:0004972 adenoma skos:exactMatch SCTID:443416007 semapv:UnspecifiedMatching MONDO:0004972 adenoma skos:exactMatch UMLS:C0001430 semapv:UnspecifiedMatching MONDO:0004972 adenoma skos:exactMatch mesh:D000236 semapv:UnspecifiedMatching MONDO:0004973 adenosquamous lung carcinoma skos:exactMatch DOID:4829 adenosquamous lung carcinoma semapv:UnspecifiedMatching MONDO:0004973 adenosquamous lung carcinoma skos:exactMatch NCIT:C9133 Lung Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0004973 adenosquamous lung carcinoma skos:exactMatch SCTID:707405009 semapv:UnspecifiedMatching MONDO:0004973 adenosquamous lung carcinoma skos:exactMatch UMLS:C0279557 semapv:UnspecifiedMatching MONDO:0004974 adrenal gland pheochromocytoma skos:exactMatch DOID:0050892 adrenal gland pheochromocytoma semapv:UnspecifiedMatching MONDO:0004974 adrenal gland pheochromocytoma skos:exactMatch NCIT:C3326 Adrenal Gland Pheochromocytoma semapv:UnspecifiedMatching MONDO:0004975 Alzheimer disease skos:exactMatch DOID:10652 Alzheimer's disease semapv:UnspecifiedMatching MONDO:0004975 Alzheimer disease skos:exactMatch ICD10CM:G30 Alzheimer's disease semapv:UnspecifiedMatching MONDO:0004975 Alzheimer disease skos:exactMatch NCIT:C2866 Alzheimer's Disease semapv:UnspecifiedMatching MONDO:0004975 Alzheimer disease skos:exactMatch SCTID:142811000119104 semapv:UnspecifiedMatching MONDO:0004975 Alzheimer disease skos:exactMatch UMLS:C0002395 semapv:UnspecifiedMatching MONDO:0004975 Alzheimer disease skos:exactMatch mesh:D000544 semapv:UnspecifiedMatching MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch DOID:332 amyotrophic lateral sclerosis semapv:UnspecifiedMatching MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch ICD10CM:G12.21 Amyotrophic lateral sclerosis semapv:UnspecifiedMatching MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch NCIT:C34373 Amyotrophic Lateral Sclerosis semapv:UnspecifiedMatching MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:UnspecifiedMatching MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch SCTID:86044005 semapv:UnspecifiedMatching MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch UMLS:C0002736 semapv:UnspecifiedMatching MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch mesh:D000690 semapv:UnspecifiedMatching MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch DOID:0111147 angioimmunoblastic T-cell lymphoma semapv:UnspecifiedMatching MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch ICD10CM:C86.5 Angioimmunoblastic T-cell lymphoma semapv:UnspecifiedMatching MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch NCIT:C7528 Follicular Helper T-Cell Lymphoma, Angioimmunoblastic-Type semapv:UnspecifiedMatching MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch Orphanet:86886 Angioimmunoblastic T-cell lymphoma semapv:UnspecifiedMatching MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch SCTID:413537009 semapv:UnspecifiedMatching MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch UMLS:C0020981 semapv:UnspecifiedMatching MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch mesh:D007119 semapv:UnspecifiedMatching MONDO:0004979 asthma skos:exactMatch DOID:2841 asthma semapv:UnspecifiedMatching MONDO:0004979 asthma skos:exactMatch ICD10CM:J45 Asthma semapv:UnspecifiedMatching MONDO:0004979 asthma skos:exactMatch NCIT:C28397 Asthma semapv:UnspecifiedMatching MONDO:0004979 asthma skos:exactMatch SCTID:31387002 semapv:UnspecifiedMatching MONDO:0004979 asthma skos:exactMatch UMLS:C0004096 semapv:UnspecifiedMatching MONDO:0004979 asthma skos:exactMatch mesh:D001249 semapv:UnspecifiedMatching MONDO:0004980 atopic eczema skos:exactMatch DOID:3310 atopic dermatitis semapv:UnspecifiedMatching MONDO:0004980 atopic eczema skos:exactMatch NCIT:C3001 Eczema semapv:UnspecifiedMatching MONDO:0004980 atopic eczema skos:exactMatch OMIMPS:603165 semapv:UnspecifiedMatching MONDO:0004981 atrial fibrillation skos:exactMatch DOID:0060224 atrial fibrillation semapv:UnspecifiedMatching MONDO:0004981 atrial fibrillation skos:exactMatch NCIT:C50466 Atrial Fibrillation semapv:UnspecifiedMatching MONDO:0004981 atrial fibrillation skos:exactMatch SCTID:49436004 semapv:UnspecifiedMatching MONDO:0004981 atrial fibrillation skos:exactMatch UMLS:C0004238 semapv:UnspecifiedMatching MONDO:0004981 atrial fibrillation skos:exactMatch mesh:D001281 semapv:UnspecifiedMatching MONDO:0004982 pancreatitis skos:exactMatch DOID:4989 pancreatitis semapv:UnspecifiedMatching MONDO:0004982 pancreatitis skos:exactMatch NCIT:C3306 Pancreatitis semapv:UnspecifiedMatching MONDO:0004982 pancreatitis skos:exactMatch SCTID:75694006 semapv:UnspecifiedMatching MONDO:0004982 pancreatitis skos:exactMatch UMLS:C0030305 semapv:UnspecifiedMatching MONDO:0004982 pancreatitis skos:exactMatch mesh:D010195 semapv:UnspecifiedMatching MONDO:0004983 spermatogenic failure skos:exactMatch DOID:0111910 spermatogenic failure semapv:UnspecifiedMatching MONDO:0004983 spermatogenic failure skos:exactMatch OMIMPS:258150 semapv:UnspecifiedMatching MONDO:0004984 basal-like breast carcinoma skos:exactMatch NCIT:C53558 Basal-Like Breast Carcinoma semapv:UnspecifiedMatching MONDO:0004984 basal-like breast carcinoma skos:exactMatch UMLS:C3642347 semapv:UnspecifiedMatching MONDO:0004985 bipolar disorder skos:exactMatch DOID:3312 bipolar disorder semapv:UnspecifiedMatching MONDO:0004985 bipolar disorder skos:exactMatch ICD10CM:F31 Bipolar disorder semapv:UnspecifiedMatching MONDO:0004985 bipolar disorder skos:exactMatch ICD10WHO:F31 Bipolar affective disorder semapv:UnspecifiedMatching MONDO:0004985 bipolar disorder skos:exactMatch NCIT:C34423 Bipolar Disorder semapv:UnspecifiedMatching MONDO:0004985 bipolar disorder skos:exactMatch SCTID:13746004 semapv:UnspecifiedMatching MONDO:0004985 bipolar disorder skos:exactMatch UMLS:C0005586 semapv:UnspecifiedMatching MONDO:0004985 bipolar disorder skos:exactMatch mesh:D001714 semapv:UnspecifiedMatching MONDO:0004986 urinary bladder carcinoma skos:exactMatch DOID:4007 bladder carcinoma semapv:UnspecifiedMatching MONDO:0004986 urinary bladder carcinoma skos:exactMatch NCIT:C4912 Bladder Carcinoma semapv:UnspecifiedMatching MONDO:0004986 urinary bladder carcinoma skos:exactMatch SCTID:255108000 semapv:UnspecifiedMatching MONDO:0004986 urinary bladder carcinoma skos:exactMatch UMLS:C0699885 semapv:UnspecifiedMatching MONDO:0004987 urinary bladder neoplasm skos:exactMatch NCIT:C2901 Bladder Neoplasm semapv:UnspecifiedMatching MONDO:0004987 urinary bladder neoplasm skos:exactMatch SCTID:126885006 semapv:UnspecifiedMatching MONDO:0004987 urinary bladder neoplasm skos:exactMatch UMLS:C0005695 semapv:UnspecifiedMatching MONDO:0004988 breast adenocarcinoma skos:exactMatch DOID:3458 breast adenocarcinoma semapv:UnspecifiedMatching MONDO:0004988 breast adenocarcinoma skos:exactMatch NCIT:C5214 Breast Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004989 breast carcinoma skos:exactMatch DOID:3459 breast carcinoma semapv:UnspecifiedMatching MONDO:0004989 breast carcinoma skos:exactMatch NCIT:C4872 Breast Carcinoma semapv:UnspecifiedMatching MONDO:0004989 breast carcinoma skos:exactMatch SCTID:254838004 semapv:UnspecifiedMatching MONDO:0004989 breast carcinoma skos:exactMatch UMLS:C0678222 semapv:UnspecifiedMatching MONDO:0004990 breast tumor luminal A or B skos:exactMatch DOID:0060548 luminal breast carcinoma A semapv:UnspecifiedMatching MONDO:0004991 minimally invasive lung adenocarcinoma skos:exactMatch DOID:4926 bronchiolo-alveolar adenocarcinoma semapv:UnspecifiedMatching MONDO:0004991 minimally invasive lung adenocarcinoma skos:exactMatch NCIT:C2923 Minimally Invasive Lung Adenocarcinoma semapv:UnspecifiedMatching MONDO:0004991 minimally invasive lung adenocarcinoma skos:exactMatch SCTID:373627005 semapv:UnspecifiedMatching MONDO:0004991 minimally invasive lung adenocarcinoma skos:exactMatch mesh:D002282 semapv:UnspecifiedMatching MONDO:0004992 cancer skos:exactMatch DOID:0050686 organ system cancer semapv:UnspecifiedMatching MONDO:0004992 cancer skos:exactMatch DOID:0050687 cell type cancer semapv:UnspecifiedMatching MONDO:0004992 cancer skos:exactMatch DOID:162 cancer semapv:UnspecifiedMatching MONDO:0004992 cancer skos:exactMatch NCIT:C9305 Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0004992 cancer skos:exactMatch SCTID:363346000 semapv:UnspecifiedMatching MONDO:0004992 cancer skos:exactMatch UMLS:C0006826 semapv:UnspecifiedMatching MONDO:0004993 carcinoma skos:exactMatch DOID:305 carcinoma semapv:UnspecifiedMatching MONDO:0004993 carcinoma skos:exactMatch NCIT:C2916 Carcinoma semapv:UnspecifiedMatching MONDO:0004993 carcinoma skos:exactMatch SCTID:722688002 semapv:UnspecifiedMatching MONDO:0004993 carcinoma skos:exactMatch UMLS:C0007097 semapv:UnspecifiedMatching MONDO:0004993 carcinoma skos:exactMatch mesh:D002277 semapv:UnspecifiedMatching MONDO:0004994 cardiomyopathy skos:exactMatch DOID:0050700 cardiomyopathy semapv:UnspecifiedMatching MONDO:0004994 cardiomyopathy skos:exactMatch ICD10CM:I42 Cardiomyopathy semapv:UnspecifiedMatching MONDO:0004994 cardiomyopathy skos:exactMatch NCIT:C34830 Cardiomyopathy semapv:UnspecifiedMatching MONDO:0004994 cardiomyopathy skos:exactMatch Orphanet:167848 Rare cardiomyopathy semapv:UnspecifiedMatching MONDO:0004994 cardiomyopathy skos:exactMatch SCTID:85898001 semapv:UnspecifiedMatching MONDO:0004994 cardiomyopathy skos:exactMatch UMLS:C0878544 semapv:UnspecifiedMatching MONDO:0004994 cardiomyopathy skos:exactMatch mesh:D009202 semapv:UnspecifiedMatching MONDO:0004995 cardiovascular disorder skos:exactMatch DOID:1287 cardiovascular system disease semapv:UnspecifiedMatching MONDO:0004995 cardiovascular disorder skos:exactMatch NCIT:C2931 Cardiovascular Disorder semapv:UnspecifiedMatching MONDO:0004995 cardiovascular disorder skos:exactMatch SCTID:49601007 semapv:UnspecifiedMatching MONDO:0004995 cardiovascular disorder skos:exactMatch UMLS:C0007222 semapv:UnspecifiedMatching MONDO:0004995 cardiovascular disorder skos:exactMatch mesh:D002318 semapv:UnspecifiedMatching MONDO:0004996 childhood acute myeloid leukemia skos:exactMatch DOID:0070323 childhood acute myeloid leukemia semapv:UnspecifiedMatching MONDO:0004996 childhood acute myeloid leukemia skos:exactMatch NCIT:C9160 Childhood Acute Myeloid Leukemia semapv:UnspecifiedMatching MONDO:0004996 childhood acute myeloid leukemia skos:exactMatch UMLS:C0220621 semapv:UnspecifiedMatching MONDO:0004997 chondroblastoma skos:exactMatch DOID:2649 chondroblastoma semapv:UnspecifiedMatching MONDO:0004997 chondroblastoma skos:exactMatch NCIT:C2945 Chondroblastoma semapv:UnspecifiedMatching MONDO:0004997 chondroblastoma skos:exactMatch UMLS:C0008441 semapv:UnspecifiedMatching MONDO:0004997 chondroblastoma skos:exactMatch mesh:D002804 semapv:UnspecifiedMatching MONDO:0005001 chronic gastritis skos:exactMatch NCIT:C26929 Chronic Gastritis semapv:UnspecifiedMatching MONDO:0005001 chronic gastritis skos:exactMatch SCTID:8493009 semapv:UnspecifiedMatching MONDO:0005001 chronic gastritis skos:exactMatch UMLS:C0085695 semapv:UnspecifiedMatching MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch DOID:3083 chronic obstructive pulmonary disease semapv:UnspecifiedMatching MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch NCIT:C3199 Chronic Obstructive Pulmonary Disease semapv:UnspecifiedMatching MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch OMIM:606963 pulmonary disease, chronic obstructive semapv:UnspecifiedMatching MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch SCTID:13645005 semapv:UnspecifiedMatching MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch mesh:D029424 semapv:UnspecifiedMatching MONDO:0005003 chronic pancreatitis skos:exactMatch NCIT:C84637 Chronic Pancreatitis semapv:UnspecifiedMatching MONDO:0005003 chronic pancreatitis skos:exactMatch SCTID:235494005 semapv:UnspecifiedMatching MONDO:0005003 chronic pancreatitis skos:exactMatch UMLS:C0149521 semapv:UnspecifiedMatching MONDO:0005003 chronic pancreatitis skos:exactMatch mesh:D050500 semapv:UnspecifiedMatching MONDO:0005004 clear cell adenocarcinoma skos:exactMatch DOID:4468 clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0005004 clear cell adenocarcinoma skos:exactMatch NCIT:C3766 Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005004 clear cell adenocarcinoma skos:exactMatch UMLS:C0206681 semapv:UnspecifiedMatching MONDO:0005004 clear cell adenocarcinoma skos:exactMatch mesh:D018262 semapv:UnspecifiedMatching MONDO:0005005 clear cell renal carcinoma skos:exactMatch DOID:4467 clear cell renal cell carcinoma semapv:UnspecifiedMatching MONDO:0005005 clear cell renal carcinoma skos:exactMatch NCIT:C4033 Clear Cell Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005005 clear cell renal carcinoma skos:exactMatch Orphanet:319276 Clear cell renal carcinoma semapv:UnspecifiedMatching MONDO:0005005 clear cell renal carcinoma skos:exactMatch SCTID:254915003 semapv:UnspecifiedMatching MONDO:0005006 clear cell sarcoma of kidney skos:exactMatch DOID:4880 kidney clear cell sarcoma semapv:UnspecifiedMatching MONDO:0005006 clear cell sarcoma of kidney skos:exactMatch NCIT:C4264 Clear Cell Sarcoma of the Kidney semapv:UnspecifiedMatching MONDO:0005006 clear cell sarcoma of kidney skos:exactMatch Orphanet:457246 Clear cell sarcoma of kidney semapv:UnspecifiedMatching MONDO:0005006 clear cell sarcoma of kidney skos:exactMatch UMLS:C0334488 semapv:UnspecifiedMatching MONDO:0005007 colon mucinous adenocarcinoma skos:exactMatch DOID:3029 colon mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0005007 colon mucinous adenocarcinoma skos:exactMatch NCIT:C7966 Colon Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005007 colon mucinous adenocarcinoma skos:exactMatch UMLS:C0279639 semapv:UnspecifiedMatching MONDO:0005008 colorectal adenocarcinoma skos:exactMatch DOID:0050861 colorectal adenocarcinoma semapv:UnspecifiedMatching MONDO:0005008 colorectal adenocarcinoma skos:exactMatch DOID:0050913 large intestine adenocarcinoma semapv:UnspecifiedMatching MONDO:0005008 colorectal adenocarcinoma skos:exactMatch NCIT:C5105 Colorectal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005008 colorectal adenocarcinoma skos:exactMatch SCTID:408645001 semapv:UnspecifiedMatching MONDO:0005008 colorectal adenocarcinoma skos:exactMatch UMLS:C1319315 semapv:UnspecifiedMatching MONDO:0005009 congestive heart failure skos:exactMatch DOID:6000 congestive heart failure semapv:UnspecifiedMatching MONDO:0005009 congestive heart failure skos:exactMatch NCIT:C3080 Congestive Heart Failure semapv:UnspecifiedMatching MONDO:0005009 congestive heart failure skos:exactMatch SCTID:42343007 semapv:UnspecifiedMatching MONDO:0005009 congestive heart failure skos:exactMatch UMLS:C0018802 semapv:UnspecifiedMatching MONDO:0005010 coronary artery disorder skos:exactMatch DOID:3393 coronary artery disease semapv:UnspecifiedMatching MONDO:0005010 coronary artery disorder skos:exactMatch NCIT:C26732 Coronary Artery Disease semapv:UnspecifiedMatching MONDO:0005010 coronary artery disorder skos:exactMatch SCTID:414024009 semapv:UnspecifiedMatching MONDO:0005010 coronary artery disorder skos:exactMatch UMLS:C1956346 semapv:UnspecifiedMatching MONDO:0005010 coronary artery disorder skos:exactMatch mesh:D003324 semapv:UnspecifiedMatching MONDO:0005011 Crohn disease skos:exactMatch DOID:8778 Crohn's disease semapv:UnspecifiedMatching MONDO:0005011 Crohn disease skos:exactMatch NCIT:C2965 Crohn Disease semapv:UnspecifiedMatching MONDO:0005011 Crohn disease skos:exactMatch SCTID:7620006 semapv:UnspecifiedMatching MONDO:0005011 Crohn disease skos:exactMatch UMLS:C0010346 semapv:UnspecifiedMatching MONDO:0005011 Crohn disease skos:exactMatch mesh:D003424 semapv:UnspecifiedMatching MONDO:0005012 cutaneous melanoma skos:exactMatch DOID:8923 skin melanoma semapv:UnspecifiedMatching MONDO:0005012 cutaneous melanoma skos:exactMatch NCIT:C3510 Cutaneous Melanoma semapv:UnspecifiedMatching MONDO:0005012 cutaneous melanoma skos:exactMatch SCTID:93655004 semapv:UnspecifiedMatching MONDO:0005012 cutaneous melanoma skos:exactMatch UMLS:C0151779 semapv:UnspecifiedMatching MONDO:0005013 dedifferentiated chondrosarcoma skos:exactMatch DOID:0081247 dedifferentiated chondrosarcoma semapv:UnspecifiedMatching MONDO:0005013 dedifferentiated chondrosarcoma skos:exactMatch NCIT:C6476 Dedifferentiated Chondrosarcoma semapv:UnspecifiedMatching MONDO:0005013 dedifferentiated chondrosarcoma skos:exactMatch UMLS:C0862878 semapv:UnspecifiedMatching MONDO:0005015 diabetes mellitus skos:exactMatch DOID:9351 diabetes mellitus semapv:UnspecifiedMatching MONDO:0005015 diabetes mellitus skos:exactMatch ICD10CM:E08-E13 Diabetes mellitus (E08-E13) semapv:UnspecifiedMatching MONDO:0005015 diabetes mellitus skos:exactMatch NCIT:C2985 Diabetes Mellitus semapv:UnspecifiedMatching MONDO:0005015 diabetes mellitus skos:exactMatch SCTID:73211009 semapv:UnspecifiedMatching MONDO:0005015 diabetes mellitus skos:exactMatch UMLS:C0011849 semapv:UnspecifiedMatching MONDO:0005015 diabetes mellitus skos:exactMatch mesh:D003920 semapv:UnspecifiedMatching MONDO:0005016 diabetic kidney disease skos:exactMatch NCIT:C84417 Diabetic Nephropathy semapv:UnspecifiedMatching MONDO:0005016 diabetic kidney disease skos:exactMatch SCTID:127013003 semapv:UnspecifiedMatching MONDO:0005016 diabetic kidney disease skos:exactMatch mesh:D003928 semapv:UnspecifiedMatching MONDO:0005017 diffuse gastric adenocarcinoma skos:exactMatch DOID:6217 gastric diffuse adenocarcinoma semapv:UnspecifiedMatching MONDO:0005017 diffuse gastric adenocarcinoma skos:exactMatch NCIT:C9159 Gastric Diffuse Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005019 diffuse scleroderma skos:exactMatch DOID:1580 diffuse scleroderma semapv:UnspecifiedMatching MONDO:0005019 diffuse scleroderma skos:exactMatch mesh:D045743 semapv:UnspecifiedMatching MONDO:0005020 intestinal disorder skos:exactMatch DOID:5295 intestinal disease semapv:UnspecifiedMatching MONDO:0005020 intestinal disorder skos:exactMatch NCIT:C26801 Intestinal Disorder semapv:UnspecifiedMatching MONDO:0005020 intestinal disorder skos:exactMatch SCTID:85919009 semapv:UnspecifiedMatching MONDO:0005020 intestinal disorder skos:exactMatch mesh:D007410 semapv:UnspecifiedMatching MONDO:0005021 dilated cardiomyopathy skos:exactMatch DOID:12930 dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0005021 dilated cardiomyopathy skos:exactMatch ICD10CM:I42.0 Dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0005021 dilated cardiomyopathy skos:exactMatch NCIT:C84673 Dilated Cardiomyopathy semapv:UnspecifiedMatching MONDO:0005021 dilated cardiomyopathy skos:exactMatch Orphanet:217604 Dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0005021 dilated cardiomyopathy skos:exactMatch SCTID:195021004 semapv:UnspecifiedMatching MONDO:0005021 dilated cardiomyopathy skos:exactMatch UMLS:C0007193 semapv:UnspecifiedMatching MONDO:0005021 dilated cardiomyopathy skos:exactMatch mesh:D002311 semapv:UnspecifiedMatching MONDO:0005023 ductal breast carcinoma in situ skos:exactMatch DOID:0060074 ductal carcinoma in situ semapv:UnspecifiedMatching MONDO:0005023 ductal breast carcinoma in situ skos:exactMatch NCIT:C2924 Breast Ductal Carcinoma In Situ semapv:UnspecifiedMatching MONDO:0005023 ductal breast carcinoma in situ skos:exactMatch mesh:D002285 semapv:UnspecifiedMatching MONDO:0005025 endocarditis skos:exactMatch DOID:10314 endocarditis semapv:UnspecifiedMatching MONDO:0005025 endocarditis skos:exactMatch NCIT:C34582 Endocarditis semapv:UnspecifiedMatching MONDO:0005025 endocarditis skos:exactMatch SCTID:56819008 semapv:UnspecifiedMatching MONDO:0005025 endocarditis skos:exactMatch mesh:D004696 semapv:UnspecifiedMatching MONDO:0005026 endometrioid adenocarcinoma skos:exactMatch NCIT:C3769 Endometrioid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005026 endometrioid adenocarcinoma skos:exactMatch UMLS:C1569637 semapv:UnspecifiedMatching MONDO:0005027 epilepsy skos:exactMatch DOID:1826 epilepsy semapv:UnspecifiedMatching MONDO:0005027 epilepsy skos:exactMatch ICD10CM:G40 Epilepsy and recurrent seizures semapv:UnspecifiedMatching MONDO:0005027 epilepsy skos:exactMatch ICD10WHO:G40 Epilepsy semapv:UnspecifiedMatching MONDO:0005027 epilepsy skos:exactMatch NCIT:C3020 Seizure Disorder semapv:UnspecifiedMatching MONDO:0005027 epilepsy skos:exactMatch SCTID:84757009 semapv:UnspecifiedMatching MONDO:0005027 epilepsy skos:exactMatch mesh:D004827 semapv:UnspecifiedMatching MONDO:0005028 esophageal adenocarcinoma skos:exactMatch DOID:4914 esophagus adenocarcinoma semapv:UnspecifiedMatching MONDO:0005028 esophageal adenocarcinoma skos:exactMatch NCIT:C4025 Esophageal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005028 esophageal adenocarcinoma skos:exactMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:UnspecifiedMatching MONDO:0005028 esophageal adenocarcinoma skos:exactMatch SCTID:276803003 semapv:UnspecifiedMatching MONDO:0005028 esophageal adenocarcinoma skos:exactMatch UMLS:C0279628 semapv:UnspecifiedMatching MONDO:0005029 essential thrombocythemia skos:exactMatch DOID:2224 essential thrombocythemia semapv:UnspecifiedMatching MONDO:0005029 essential thrombocythemia skos:exactMatch NCIT:C3407 Essential Thrombocythemia semapv:UnspecifiedMatching MONDO:0005029 essential thrombocythemia skos:exactMatch Orphanet:3318 Essential thrombocythemia semapv:UnspecifiedMatching MONDO:0005029 essential thrombocythemia skos:exactMatch SCTID:109994006 semapv:UnspecifiedMatching MONDO:0005029 essential thrombocythemia skos:exactMatch UMLS:C0040028 semapv:UnspecifiedMatching MONDO:0005029 essential thrombocythemia skos:exactMatch mesh:D013920 semapv:UnspecifiedMatching MONDO:0005030 fetal growth restriction skos:exactMatch NCIT:C114875 Fetus Small for Gestational Age semapv:UnspecifiedMatching MONDO:0005030 fetal growth restriction skos:exactMatch SCTID:22033007 semapv:UnspecifiedMatching MONDO:0005030 fetal growth restriction skos:exactMatch mesh:D005317 semapv:UnspecifiedMatching MONDO:0005031 fibromatosis skos:exactMatch NCIT:C3042 Fibromatosis semapv:UnspecifiedMatching MONDO:0005031 fibromatosis skos:exactMatch SCTID:723976005 semapv:UnspecifiedMatching MONDO:0005032 follicular thyroid adenoma skos:exactMatch DOID:2891 thyroid adenoma semapv:UnspecifiedMatching MONDO:0005032 follicular thyroid adenoma skos:exactMatch DOID:6204 follicular adenoma semapv:UnspecifiedMatching MONDO:0005032 follicular thyroid adenoma skos:exactMatch NCIT:C3502 Thyroid Gland Follicular Adenoma semapv:UnspecifiedMatching MONDO:0005032 follicular thyroid adenoma skos:exactMatch SCTID:255033000 semapv:UnspecifiedMatching MONDO:0005032 follicular thyroid adenoma skos:exactMatch SCTID:255034006 semapv:UnspecifiedMatching MONDO:0005033 ganglioneuroma skos:exactMatch DOID:4817 ganglioneuroma semapv:UnspecifiedMatching MONDO:0005033 ganglioneuroma skos:exactMatch NCIT:C3049 Ganglioneuroma semapv:UnspecifiedMatching MONDO:0005033 ganglioneuroma skos:exactMatch Orphanet:251992 Ganglioneuroma semapv:UnspecifiedMatching MONDO:0005033 ganglioneuroma skos:exactMatch SCTID:116371000119107 semapv:UnspecifiedMatching MONDO:0005033 ganglioneuroma skos:exactMatch UMLS:C0017075 semapv:UnspecifiedMatching MONDO:0005034 thyroid gland follicular carcinoma skos:exactMatch DOID:3962 thyroid gland follicular carcinoma semapv:UnspecifiedMatching MONDO:0005034 thyroid gland follicular carcinoma skos:exactMatch NCIT:C8054 Thyroid Gland Follicular Carcinoma semapv:UnspecifiedMatching MONDO:0005034 thyroid gland follicular carcinoma skos:exactMatch SCTID:255028004 semapv:UnspecifiedMatching MONDO:0005034 thyroid gland follicular carcinoma skos:exactMatch mesh:D018263 semapv:UnspecifiedMatching MONDO:0005035 ganglioneuroblastoma skos:exactMatch DOID:4163 ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0005035 ganglioneuroblastoma skos:exactMatch NCIT:C3790 Ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0005035 ganglioneuroblastoma skos:exactMatch Orphanet:251877 Ganglioneuroblastoma semapv:UnspecifiedMatching MONDO:0005035 ganglioneuroblastoma skos:exactMatch SCTID:116381000119105 semapv:UnspecifiedMatching MONDO:0005035 ganglioneuroblastoma skos:exactMatch UMLS:C0206718 semapv:UnspecifiedMatching MONDO:0005035 ganglioneuroblastoma skos:exactMatch mesh:D018305 semapv:UnspecifiedMatching MONDO:0005036 gastric adenocarcinoma skos:exactMatch DOID:3717 gastric adenocarcinoma semapv:UnspecifiedMatching MONDO:0005036 gastric adenocarcinoma skos:exactMatch NCIT:C4004 Gastric Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005036 gastric adenocarcinoma skos:exactMatch SCTID:408647009 semapv:UnspecifiedMatching MONDO:0005036 gastric adenocarcinoma skos:exactMatch UMLS:C0278701 semapv:UnspecifiedMatching MONDO:0005037 gastric intestinal type adenocarcinoma skos:exactMatch NCIT:C9157 Gastric Intestinal-Type Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005037 gastric intestinal type adenocarcinoma skos:exactMatch UMLS:C0279633 semapv:UnspecifiedMatching MONDO:0005039 reproductive system disorder skos:exactMatch DOID:15 reproductive system disease semapv:UnspecifiedMatching MONDO:0005039 reproductive system disorder skos:exactMatch NCIT:C4875 Reproductive System Disorder semapv:UnspecifiedMatching MONDO:0005039 reproductive system disorder skos:exactMatch SCTID:362968007 semapv:UnspecifiedMatching MONDO:0005039 reproductive system disorder skos:exactMatch UMLS:C0178829 semapv:UnspecifiedMatching MONDO:0005040 germ cell tumor skos:exactMatch DOID:2994 germ cell cancer semapv:UnspecifiedMatching MONDO:0005040 germ cell tumor skos:exactMatch NCIT:C3708 Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0005040 germ cell tumor skos:exactMatch UMLS:C0205851 semapv:UnspecifiedMatching MONDO:0005041 glaucoma skos:exactMatch DOID:1686 glaucoma semapv:UnspecifiedMatching MONDO:0005041 glaucoma skos:exactMatch ICD10CM:H40-H42 Glaucoma (H40-H42) semapv:UnspecifiedMatching MONDO:0005041 glaucoma skos:exactMatch NCIT:C26782 Glaucoma semapv:UnspecifiedMatching MONDO:0005041 glaucoma skos:exactMatch SCTID:23986001 semapv:UnspecifiedMatching MONDO:0005041 glaucoma skos:exactMatch UMLS:C0017601 semapv:UnspecifiedMatching MONDO:0005041 glaucoma skos:exactMatch mesh:D005901 semapv:UnspecifiedMatching MONDO:0005042 obsolete head disorder skos:exactMatch SCTID:118934005 semapv:UnspecifiedMatching MONDO:0005042 obsolete head disorder skos:exactMatch UMLS:C1290856 semapv:UnspecifiedMatching MONDO:0005043 hyperplasia skos:exactMatch NCIT:C3113 Hyperplasia semapv:UnspecifiedMatching MONDO:0005043 hyperplasia skos:exactMatch mesh:D006965 semapv:UnspecifiedMatching MONDO:0005044 hypertensive disorder skos:exactMatch DOID:10763 hypertension semapv:UnspecifiedMatching MONDO:0005044 hypertensive disorder skos:exactMatch ICD10CM:I10-I16 Hypertensive diseases (I10-I16) semapv:UnspecifiedMatching MONDO:0005044 hypertensive disorder skos:exactMatch ICD10CM:I15 Secondary hypertension semapv:UnspecifiedMatching MONDO:0005044 hypertensive disorder skos:exactMatch NCIT:C3117 Hypertension semapv:UnspecifiedMatching MONDO:0005044 hypertensive disorder skos:exactMatch SCTID:38341003 semapv:UnspecifiedMatching MONDO:0005044 hypertensive disorder skos:exactMatch UMLS:C0020538 semapv:UnspecifiedMatching MONDO:0005044 hypertensive disorder skos:exactMatch mesh:D006973 semapv:UnspecifiedMatching MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch DOID:11984 hypertrophic cardiomyopathy semapv:UnspecifiedMatching MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch NCIT:C34449 Hypertrophic Cardiomyopathy semapv:UnspecifiedMatching MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:UnspecifiedMatching MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch SCTID:233873004 semapv:UnspecifiedMatching MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch UMLS:C0007194 semapv:UnspecifiedMatching MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch mesh:D002312 semapv:UnspecifiedMatching MONDO:0005046 immune system disorder skos:exactMatch DOID:2914 immune system disease semapv:UnspecifiedMatching MONDO:0005046 immune system disorder skos:exactMatch NCIT:C3507 Immune System Disorder semapv:UnspecifiedMatching MONDO:0005046 immune system disorder skos:exactMatch SCTID:414029004 semapv:UnspecifiedMatching MONDO:0005046 immune system disorder skos:exactMatch mesh:D007154 semapv:UnspecifiedMatching MONDO:0005047 infertility disorder skos:exactMatch DOID:5223 infertility semapv:UnspecifiedMatching MONDO:0005047 infertility disorder skos:exactMatch NCIT:C3836 Infertility semapv:UnspecifiedMatching MONDO:0005047 infertility disorder skos:exactMatch mesh:D007246 semapv:UnspecifiedMatching MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor skos:exactMatch NCIT:C3140 Pancreatic Insulin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor skos:exactMatch Orphanet:97279 Insulinoma semapv:UnspecifiedMatching MONDO:0005049 obsolete intracranial hemorrhage skos:exactMatch UMLS:CN236663 semapv:UnspecifiedMatching MONDO:0005049 obsolete intracranial hemorrhage skos:exactMatch mesh:D020300 semapv:UnspecifiedMatching MONDO:0005050 invasive ductal and lobular carcinoma skos:exactMatch NCIT:C7688 Invasive Breast Ductal Carcinoma and Lobular Carcinoma semapv:UnspecifiedMatching MONDO:0005050 invasive ductal and lobular carcinoma skos:exactMatch UMLS:C1334277 semapv:UnspecifiedMatching MONDO:0005051 invasive lobular breast carcinoma skos:exactMatch DOID:3457 invasive lobular carcinoma semapv:UnspecifiedMatching MONDO:0005051 invasive lobular breast carcinoma skos:exactMatch NCIT:C7950 Invasive Breast Lobular Carcinoma semapv:UnspecifiedMatching MONDO:0005051 invasive lobular breast carcinoma skos:exactMatch UMLS:C0279565 semapv:UnspecifiedMatching MONDO:0005052 irritable bowel syndrome skos:exactMatch DOID:9778 irritable bowel syndrome semapv:UnspecifiedMatching MONDO:0005052 irritable bowel syndrome skos:exactMatch ICD10CM:K58 Irritable bowel syndrome semapv:UnspecifiedMatching MONDO:0005052 irritable bowel syndrome skos:exactMatch NCIT:C82343 Irritable Bowel Syndrome semapv:UnspecifiedMatching MONDO:0005052 irritable bowel syndrome skos:exactMatch SCTID:10743008 semapv:UnspecifiedMatching MONDO:0005052 irritable bowel syndrome skos:exactMatch UMLS:C0022104 semapv:UnspecifiedMatching MONDO:0005052 irritable bowel syndrome skos:exactMatch mesh:D043183 semapv:UnspecifiedMatching MONDO:0005053 ischemic disease skos:exactMatch DOID:326 ischemia semapv:UnspecifiedMatching MONDO:0005053 ischemic disease skos:exactMatch NCIT:C34738 Ischemia semapv:UnspecifiedMatching MONDO:0005053 ischemic disease skos:exactMatch SCTID:52674009 semapv:UnspecifiedMatching MONDO:0005053 ischemic disease skos:exactMatch mesh:D007511 semapv:UnspecifiedMatching MONDO:0005055 Kaposi's sarcoma skos:exactMatch DOID:8632 Kaposi's sarcoma semapv:UnspecifiedMatching MONDO:0005055 Kaposi's sarcoma skos:exactMatch NCIT:C9087 Kaposi Sarcoma semapv:UnspecifiedMatching MONDO:0005055 Kaposi's sarcoma skos:exactMatch Orphanet:33276 Kaposi sarcoma semapv:UnspecifiedMatching MONDO:0005055 Kaposi's sarcoma skos:exactMatch SCTID:109385007 semapv:UnspecifiedMatching MONDO:0005055 Kaposi's sarcoma skos:exactMatch mesh:D012514 semapv:UnspecifiedMatching MONDO:0005056 keratinizing squamous cell carcinoma skos:exactMatch DOID:5521 keratinizing squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0005056 keratinizing squamous cell carcinoma skos:exactMatch NCIT:C4105 Keratinizing Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005056 keratinizing squamous cell carcinoma skos:exactMatch UMLS:C0334247 semapv:UnspecifiedMatching MONDO:0005057 large cell neuroendocrine carcinoma skos:exactMatch DOID:0050872 large cell neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0005057 large cell neuroendocrine carcinoma skos:exactMatch NCIT:C6875 Large Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0005057 large cell neuroendocrine carcinoma skos:exactMatch UMLS:C1265996 semapv:UnspecifiedMatching MONDO:0005058 leiomyosarcoma skos:exactMatch DOID:1967 leiomyosarcoma semapv:UnspecifiedMatching MONDO:0005058 leiomyosarcoma skos:exactMatch NCIT:C3158 Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0005058 leiomyosarcoma skos:exactMatch Orphanet:64720 Leiomyosarcoma semapv:UnspecifiedMatching MONDO:0005058 leiomyosarcoma skos:exactMatch SCTID:443719001 semapv:UnspecifiedMatching MONDO:0005058 leiomyosarcoma skos:exactMatch UMLS:C0023269 semapv:UnspecifiedMatching MONDO:0005058 leiomyosarcoma skos:exactMatch mesh:D007890 semapv:UnspecifiedMatching MONDO:0005059 leukemia skos:exactMatch DOID:1240 leukemia semapv:UnspecifiedMatching MONDO:0005059 leukemia skos:exactMatch NCIT:C3161 Leukemia semapv:UnspecifiedMatching MONDO:0005059 leukemia skos:exactMatch SCTID:93143009 semapv:UnspecifiedMatching MONDO:0005059 leukemia skos:exactMatch UMLS:C0023418 semapv:UnspecifiedMatching MONDO:0005059 leukemia skos:exactMatch mesh:D007938 semapv:UnspecifiedMatching MONDO:0005060 liposarcoma skos:exactMatch DOID:3382 liposarcoma semapv:UnspecifiedMatching MONDO:0005060 liposarcoma skos:exactMatch NCIT:C3194 Liposarcoma semapv:UnspecifiedMatching MONDO:0005060 liposarcoma skos:exactMatch Orphanet:69078 Liposarcoma semapv:UnspecifiedMatching MONDO:0005060 liposarcoma skos:exactMatch SCTID:254829001 semapv:UnspecifiedMatching MONDO:0005060 liposarcoma skos:exactMatch UMLS:C0023827 semapv:UnspecifiedMatching MONDO:0005060 liposarcoma skos:exactMatch mesh:D008080 semapv:UnspecifiedMatching MONDO:0005061 lung adenocarcinoma skos:exactMatch DOID:3910 lung adenocarcinoma semapv:UnspecifiedMatching MONDO:0005061 lung adenocarcinoma skos:exactMatch NCIT:C3512 Lung Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005061 lung adenocarcinoma skos:exactMatch SCTID:254626006 semapv:UnspecifiedMatching MONDO:0005061 lung adenocarcinoma skos:exactMatch UMLS:C0152013 semapv:UnspecifiedMatching MONDO:0005061 lung adenocarcinoma skos:exactMatch mesh:C538231 semapv:UnspecifiedMatching MONDO:0005062 lymphoma skos:exactMatch DOID:0060058 lymphoma semapv:UnspecifiedMatching MONDO:0005062 lymphoma skos:exactMatch NCIT:C3208 Lymphoma semapv:UnspecifiedMatching MONDO:0005062 lymphoma skos:exactMatch Orphanet:223735 Lymphoma semapv:UnspecifiedMatching MONDO:0005062 lymphoma skos:exactMatch SCTID:118600007 semapv:UnspecifiedMatching MONDO:0005062 lymphoma skos:exactMatch UMLS:C0024299 semapv:UnspecifiedMatching MONDO:0005062 lymphoma skos:exactMatch mesh:D008223 semapv:UnspecifiedMatching MONDO:0005063 medullary breast carcinoma skos:exactMatch DOID:5605 breast medullary carcinoma semapv:UnspecifiedMatching MONDO:0005063 medullary breast carcinoma skos:exactMatch NCIT:C9119 Breast Medullary Carcinoma semapv:UnspecifiedMatching MONDO:0005063 medullary breast carcinoma skos:exactMatch UMLS:C0860580 semapv:UnspecifiedMatching MONDO:0005065 mesothelioma skos:exactMatch ICD10CM:C45 Mesothelioma semapv:UnspecifiedMatching MONDO:0005065 mesothelioma skos:exactMatch NCIT:C3234 Mesothelioma semapv:UnspecifiedMatching MONDO:0005065 mesothelioma skos:exactMatch UMLS:C0025500 semapv:UnspecifiedMatching MONDO:0005065 mesothelioma skos:exactMatch mesh:D008654 semapv:UnspecifiedMatching MONDO:0005066 metabolic disease skos:exactMatch DOID:0014667 disease of metabolism semapv:UnspecifiedMatching MONDO:0005066 metabolic disease skos:exactMatch ICD10CM:E70-E88 Metabolic disorders (E70-E88) semapv:UnspecifiedMatching MONDO:0005066 metabolic disease skos:exactMatch ICD10WHO:E70-E90 Metabolic disorders semapv:UnspecifiedMatching MONDO:0005066 metabolic disease skos:exactMatch NCIT:C3235 Metabolic Disorder semapv:UnspecifiedMatching MONDO:0005066 metabolic disease skos:exactMatch SCTID:75934005 semapv:UnspecifiedMatching MONDO:0005066 metabolic disease skos:exactMatch UMLS:C0025517 semapv:UnspecifiedMatching MONDO:0005066 metabolic disease skos:exactMatch mesh:D008659 semapv:UnspecifiedMatching MONDO:0005067 monophasic synovial sarcoma skos:exactMatch DOID:5495 monophasic synovial sarcoma semapv:UnspecifiedMatching MONDO:0005067 monophasic synovial sarcoma skos:exactMatch NCIT:C6534 Monophasic Synovial Sarcoma semapv:UnspecifiedMatching MONDO:0005067 monophasic synovial sarcoma skos:exactMatch UMLS:C1334801 semapv:UnspecifiedMatching MONDO:0005068 myocardial infarction skos:exactMatch DOID:5844 myocardial infarction semapv:UnspecifiedMatching MONDO:0005068 myocardial infarction skos:exactMatch ICD10CM:I21 Acute myocardial infarction semapv:UnspecifiedMatching MONDO:0005068 myocardial infarction skos:exactMatch NCIT:C27996 Myocardial Infarction semapv:UnspecifiedMatching MONDO:0005068 myocardial infarction skos:exactMatch SCTID:22298006 semapv:UnspecifiedMatching MONDO:0005068 myocardial infarction skos:exactMatch UMLS:C0027051 semapv:UnspecifiedMatching MONDO:0005068 myocardial infarction skos:exactMatch mesh:D009203 semapv:UnspecifiedMatching MONDO:0005070 neoplasm skos:exactMatch DOID:14566 disease of cellular proliferation semapv:UnspecifiedMatching MONDO:0005070 neoplasm skos:exactMatch ICD10CM:C00-D49 Neoplasms (C00-D49) semapv:UnspecifiedMatching MONDO:0005070 neoplasm skos:exactMatch NCIT:C3262 Neoplasm semapv:UnspecifiedMatching MONDO:0005070 neoplasm skos:exactMatch SCTID:55342001 semapv:UnspecifiedMatching MONDO:0005070 neoplasm skos:exactMatch UMLS:C0027651 semapv:UnspecifiedMatching MONDO:0005070 neoplasm skos:exactMatch mesh:D009369 semapv:UnspecifiedMatching MONDO:0005071 nervous system disorder skos:exactMatch DOID:863 nervous system disease semapv:UnspecifiedMatching MONDO:0005071 nervous system disorder skos:exactMatch ICD10CM:G00-G99 Diseases of the nervous system (G00-G99) semapv:UnspecifiedMatching MONDO:0005071 nervous system disorder skos:exactMatch NCIT:C26835 Nervous System Disorder semapv:UnspecifiedMatching MONDO:0005071 nervous system disorder skos:exactMatch SCTID:118940003 semapv:UnspecifiedMatching MONDO:0005071 nervous system disorder skos:exactMatch UMLS:C0027765 semapv:UnspecifiedMatching MONDO:0005071 nervous system disorder skos:exactMatch mesh:D009422 semapv:UnspecifiedMatching MONDO:0005072 neuroblastoma skos:exactMatch DOID:769 neuroblastoma semapv:UnspecifiedMatching MONDO:0005072 neuroblastoma skos:exactMatch NCIT:C3270 Neuroblastoma semapv:UnspecifiedMatching MONDO:0005072 neuroblastoma skos:exactMatch Orphanet:635 Neuroblastoma semapv:UnspecifiedMatching MONDO:0005072 neuroblastoma skos:exactMatch SCTID:432328008 semapv:UnspecifiedMatching MONDO:0005072 neuroblastoma skos:exactMatch UMLS:C0027819 semapv:UnspecifiedMatching MONDO:0005072 neuroblastoma skos:exactMatch mesh:D009447 semapv:UnspecifiedMatching MONDO:0005073 melanocytic nevus skos:exactMatch NCIT:C7570 Melanocytic Nevus semapv:UnspecifiedMatching MONDO:0005073 melanocytic nevus skos:exactMatch SCTID:400096001 semapv:UnspecifiedMatching MONDO:0005073 melanocytic nevus skos:exactMatch mesh:D009506 semapv:UnspecifiedMatching MONDO:0005074 papillary cystadenocarcinoma skos:exactMatch DOID:3110 papillary cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0005074 papillary cystadenocarcinoma skos:exactMatch NCIT:C3777 Papillary Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0005074 papillary cystadenocarcinoma skos:exactMatch UMLS:C0206700 semapv:UnspecifiedMatching MONDO:0005074 papillary cystadenocarcinoma skos:exactMatch mesh:D018283 semapv:UnspecifiedMatching MONDO:0005075 thyroid gland papillary carcinoma skos:exactMatch DOID:3969 thyroid gland papillary carcinoma semapv:UnspecifiedMatching MONDO:0005075 thyroid gland papillary carcinoma skos:exactMatch NCIT:C4035 Thyroid Gland Papillary Carcinoma semapv:UnspecifiedMatching MONDO:0005075 thyroid gland papillary carcinoma skos:exactMatch SCTID:255029007 semapv:UnspecifiedMatching MONDO:0005075 thyroid gland papillary carcinoma skos:exactMatch UMLS:C0238463 semapv:UnspecifiedMatching MONDO:0005076 periodontitis skos:exactMatch DOID:824 periodontitis semapv:UnspecifiedMatching MONDO:0005076 periodontitis skos:exactMatch DOID:9893 periodontosis semapv:UnspecifiedMatching MONDO:0005076 periodontitis skos:exactMatch ICD10CM:K05.4 Periodontosis semapv:UnspecifiedMatching MONDO:0005076 periodontitis skos:exactMatch NCIT:C34918 Periodontitis semapv:UnspecifiedMatching MONDO:0005076 periodontitis skos:exactMatch SCTID:41565005 semapv:UnspecifiedMatching MONDO:0005076 periodontitis skos:exactMatch UMLS:C0031099 semapv:UnspecifiedMatching MONDO:0005076 periodontitis skos:exactMatch mesh:D010518 semapv:UnspecifiedMatching MONDO:0005077 pertussis skos:exactMatch DOID:1116 pertussis semapv:UnspecifiedMatching MONDO:0005077 pertussis skos:exactMatch NCIT:C85231 Whooping Cough semapv:UnspecifiedMatching MONDO:0005077 pertussis skos:exactMatch Orphanet:1489 Whooping cough semapv:UnspecifiedMatching MONDO:0005077 pertussis skos:exactMatch SCTID:27836007 semapv:UnspecifiedMatching MONDO:0005077 pertussis skos:exactMatch UMLS:C0043167 semapv:UnspecifiedMatching MONDO:0005077 pertussis skos:exactMatch mesh:D014917 semapv:UnspecifiedMatching MONDO:0005078 phyllodes tumor skos:exactMatch NCIT:C2977 Phyllodes Tumor semapv:UnspecifiedMatching MONDO:0005078 phyllodes tumor skos:exactMatch mesh:D003557 semapv:UnspecifiedMatching MONDO:0005079 polyp skos:exactMatch ICD10CM:N84 Polyp of female genital tract semapv:UnspecifiedMatching MONDO:0005079 polyp skos:exactMatch NCIT:C3340 Polyp semapv:UnspecifiedMatching MONDO:0005079 polyp skos:exactMatch SCTID:441456002 semapv:UnspecifiedMatching MONDO:0005079 polyp skos:exactMatch mesh:D011127 semapv:UnspecifiedMatching MONDO:0005080 portal hypertension skos:exactMatch DOID:10762 portal hypertension semapv:UnspecifiedMatching MONDO:0005080 portal hypertension skos:exactMatch ICD10CM:K76.6 Portal hypertension semapv:UnspecifiedMatching MONDO:0005080 portal hypertension skos:exactMatch NCIT:C3119 Portal Hypertension semapv:UnspecifiedMatching MONDO:0005080 portal hypertension skos:exactMatch SCTID:34742003 semapv:UnspecifiedMatching MONDO:0005080 portal hypertension skos:exactMatch UMLS:C0020541 semapv:UnspecifiedMatching MONDO:0005080 portal hypertension skos:exactMatch mesh:D006975 semapv:UnspecifiedMatching MONDO:0005081 preeclampsia skos:exactMatch DOID:10591 pre-eclampsia semapv:UnspecifiedMatching MONDO:0005081 preeclampsia skos:exactMatch NCIT:C85021 Preeclampsia semapv:UnspecifiedMatching MONDO:0005081 preeclampsia skos:exactMatch OMIMPS:189800 semapv:UnspecifiedMatching MONDO:0005081 preeclampsia skos:exactMatch Orphanet:275555 Preeclampsia semapv:UnspecifiedMatching MONDO:0005081 preeclampsia skos:exactMatch SCTID:398254007 semapv:UnspecifiedMatching MONDO:0005081 preeclampsia skos:exactMatch mesh:D011225 semapv:UnspecifiedMatching MONDO:0005082 prostate adenocarcinoma skos:exactMatch DOID:2526 prostate adenocarcinoma semapv:UnspecifiedMatching MONDO:0005082 prostate adenocarcinoma skos:exactMatch NCIT:C2919 Prostate Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005082 prostate adenocarcinoma skos:exactMatch SCTID:399490008 semapv:UnspecifiedMatching MONDO:0005082 prostate adenocarcinoma skos:exactMatch UMLS:C0007112 semapv:UnspecifiedMatching MONDO:0005083 psoriasis skos:exactMatch DOID:8893 psoriasis semapv:UnspecifiedMatching MONDO:0005083 psoriasis skos:exactMatch ICD10CM:L40 Psoriasis semapv:UnspecifiedMatching MONDO:0005083 psoriasis skos:exactMatch NCIT:C3346 Psoriasis semapv:UnspecifiedMatching MONDO:0005083 psoriasis skos:exactMatch OMIMPS:177900 semapv:UnspecifiedMatching MONDO:0005083 psoriasis skos:exactMatch SCTID:9014002 semapv:UnspecifiedMatching MONDO:0005083 psoriasis skos:exactMatch UMLS:C0033860 semapv:UnspecifiedMatching MONDO:0005083 psoriasis skos:exactMatch mesh:D011565 semapv:UnspecifiedMatching MONDO:0005084 mental disorder skos:exactMatch SCTID:74732009 semapv:UnspecifiedMatching MONDO:0005084 mental disorder skos:exactMatch UMLS:C0004936 semapv:UnspecifiedMatching MONDO:0005085 pterygium skos:exactMatch DOID:0002116 pterygium semapv:UnspecifiedMatching MONDO:0005085 pterygium skos:exactMatch ICD10CM:H11.0 Pterygium of eye semapv:UnspecifiedMatching MONDO:0005085 pterygium skos:exactMatch NCIT:C133744 Pterygium semapv:UnspecifiedMatching MONDO:0005085 pterygium skos:exactMatch SCTID:77489003 semapv:UnspecifiedMatching MONDO:0005085 pterygium skos:exactMatch UMLS:C0033999 semapv:UnspecifiedMatching MONDO:0005085 pterygium skos:exactMatch mesh:D011625 semapv:UnspecifiedMatching MONDO:0005086 renal cell carcinoma skos:exactMatch DOID:4450 renal cell carcinoma semapv:UnspecifiedMatching MONDO:0005086 renal cell carcinoma skos:exactMatch Orphanet:217071 Renal cell carcinoma semapv:UnspecifiedMatching MONDO:0005086 renal cell carcinoma skos:exactMatch SCTID:702391001 semapv:UnspecifiedMatching MONDO:0005086 renal cell carcinoma skos:exactMatch mesh:D002292 semapv:UnspecifiedMatching MONDO:0005087 respiratory system disorder skos:exactMatch DOID:1579 respiratory system disease semapv:UnspecifiedMatching MONDO:0005087 respiratory system disorder skos:exactMatch ICD10CM:J00-J99 Diseases of the respiratory system (J00-J99) semapv:UnspecifiedMatching MONDO:0005087 respiratory system disorder skos:exactMatch NCIT:C26871 Respiratory System Disorder semapv:UnspecifiedMatching MONDO:0005087 respiratory system disorder skos:exactMatch SCTID:50043002 semapv:UnspecifiedMatching MONDO:0005087 respiratory system disorder skos:exactMatch mesh:D012140 semapv:UnspecifiedMatching MONDO:0005089 sarcoma skos:exactMatch DOID:1115 sarcoma semapv:UnspecifiedMatching MONDO:0005089 sarcoma skos:exactMatch NCIT:C9118 Sarcoma semapv:UnspecifiedMatching MONDO:0005089 sarcoma skos:exactMatch SCTID:424413001 semapv:UnspecifiedMatching MONDO:0005089 sarcoma skos:exactMatch mesh:D012509 semapv:UnspecifiedMatching MONDO:0005090 schizophrenia skos:exactMatch DOID:5419 schizophrenia semapv:UnspecifiedMatching MONDO:0005090 schizophrenia skos:exactMatch NCIT:C3362 Schizophrenia semapv:UnspecifiedMatching MONDO:0005090 schizophrenia skos:exactMatch OMIM:181500 schizophrenia semapv:UnspecifiedMatching MONDO:0005090 schizophrenia skos:exactMatch SCTID:58214004 semapv:UnspecifiedMatching MONDO:0005091 severe acute respiratory syndrome skos:exactMatch DOID:2945 severe acute respiratory syndrome semapv:UnspecifiedMatching MONDO:0005091 severe acute respiratory syndrome skos:exactMatch NCIT:C85064 Severe Acute Respiratory Syndrome semapv:UnspecifiedMatching MONDO:0005091 severe acute respiratory syndrome skos:exactMatch Orphanet:140896 Severe acute respiratory syndrome semapv:UnspecifiedMatching MONDO:0005091 severe acute respiratory syndrome skos:exactMatch SCTID:398447004 semapv:UnspecifiedMatching MONDO:0005091 severe acute respiratory syndrome skos:exactMatch UMLS:C1175175 semapv:UnspecifiedMatching MONDO:0005091 severe acute respiratory syndrome skos:exactMatch mesh:D045169 semapv:UnspecifiedMatching MONDO:0005092 signet ring cell carcinoma skos:exactMatch DOID:3493 signet ring cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0005092 signet ring cell carcinoma skos:exactMatch NCIT:C3774 Signet Ring Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005092 signet ring cell carcinoma skos:exactMatch UMLS:C0206696 semapv:UnspecifiedMatching MONDO:0005092 signet ring cell carcinoma skos:exactMatch mesh:D018279 semapv:UnspecifiedMatching MONDO:0005093 skin disorder skos:exactMatch DOID:37 skin disease semapv:UnspecifiedMatching MONDO:0005093 skin disorder skos:exactMatch NCIT:C3371 Skin Disorder semapv:UnspecifiedMatching MONDO:0005093 skin disorder skos:exactMatch SCTID:95320005 semapv:UnspecifiedMatching MONDO:0005093 skin disorder skos:exactMatch mesh:D012871 semapv:UnspecifiedMatching MONDO:0005094 hemangiopericytoma skos:exactMatch DOID:264 hemangiopericytoma semapv:UnspecifiedMatching MONDO:0005094 hemangiopericytoma skos:exactMatch NCIT:C3087 Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0005094 hemangiopericytoma skos:exactMatch SCTID:134335004 semapv:UnspecifiedMatching MONDO:0005094 hemangiopericytoma skos:exactMatch mesh:D006393 semapv:UnspecifiedMatching MONDO:0005095 spondyloarthropathy skos:exactMatch DOID:1123 spondyloarthropathy semapv:UnspecifiedMatching MONDO:0005095 spondyloarthropathy skos:exactMatch NCIT:C116778 Spondyloarthritis semapv:UnspecifiedMatching MONDO:0005096 squamous cell carcinoma skos:exactMatch DOID:1749 squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0005096 squamous cell carcinoma skos:exactMatch NCIT:C2929 Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005096 squamous cell carcinoma skos:exactMatch SCTID:402815007 semapv:UnspecifiedMatching MONDO:0005096 squamous cell carcinoma skos:exactMatch UMLS:C0007137 semapv:UnspecifiedMatching MONDO:0005096 squamous cell carcinoma skos:exactMatch mesh:D002294 semapv:UnspecifiedMatching MONDO:0005097 squamous cell lung carcinoma skos:exactMatch DOID:3907 lung squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0005097 squamous cell lung carcinoma skos:exactMatch NCIT:C3493 Lung Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005097 squamous cell lung carcinoma skos:exactMatch SCTID:254634000 semapv:UnspecifiedMatching MONDO:0005097 squamous cell lung carcinoma skos:exactMatch UMLS:C0149782 semapv:UnspecifiedMatching MONDO:0005098 stroke disorder skos:exactMatch NCIT:C3390 Stroke semapv:UnspecifiedMatching MONDO:0005098 stroke disorder skos:exactMatch SCTID:230690007 semapv:UnspecifiedMatching MONDO:0005098 stroke disorder skos:exactMatch mesh:D020521 semapv:UnspecifiedMatching MONDO:0005099 subarachnoid hemorrhage skos:exactMatch SCTID:21454007 semapv:UnspecifiedMatching MONDO:0005099 subarachnoid hemorrhage skos:exactMatch UMLS:C0038525 semapv:UnspecifiedMatching MONDO:0005099 subarachnoid hemorrhage skos:exactMatch mesh:D013345 semapv:UnspecifiedMatching MONDO:0005100 systemic sclerosis skos:exactMatch DOID:418 systemic scleroderma semapv:UnspecifiedMatching MONDO:0005100 systemic sclerosis skos:exactMatch NCIT:C72070 Systemic Scleroderma semapv:UnspecifiedMatching MONDO:0005100 systemic sclerosis skos:exactMatch Orphanet:90291 Systemic sclerosis semapv:UnspecifiedMatching MONDO:0005100 systemic sclerosis skos:exactMatch SCTID:89155008 semapv:UnspecifiedMatching MONDO:0005100 systemic sclerosis skos:exactMatch UMLS:C0036421 semapv:UnspecifiedMatching MONDO:0005100 systemic sclerosis skos:exactMatch mesh:D012595 semapv:UnspecifiedMatching MONDO:0005101 ulcerative colitis skos:exactMatch DOID:8577 ulcerative colitis semapv:UnspecifiedMatching MONDO:0005101 ulcerative colitis skos:exactMatch NCIT:C2952 Ulcerative Colitis semapv:UnspecifiedMatching MONDO:0005101 ulcerative colitis skos:exactMatch SCTID:64766004 semapv:UnspecifiedMatching MONDO:0005101 ulcerative colitis skos:exactMatch UMLS:C0009324 semapv:UnspecifiedMatching MONDO:0005101 ulcerative colitis skos:exactMatch mesh:D003093 semapv:UnspecifiedMatching MONDO:0005102 undifferentiated (embryonal) sarcoma skos:exactMatch NCIT:C27096 Liver Embryonal Sarcoma semapv:UnspecifiedMatching MONDO:0005102 undifferentiated (embryonal) sarcoma skos:exactMatch UMLS:C0855073 semapv:UnspecifiedMatching MONDO:0005103 well-differentiated liposarcoma skos:exactMatch Orphanet:99971 Well-differentiated liposarcoma semapv:UnspecifiedMatching MONDO:0005103 well-differentiated liposarcoma skos:exactMatch UMLS:C1370889 semapv:UnspecifiedMatching MONDO:0005104 aJCC grade 1 sarcoma skos:exactMatch NCIT:C9419 AJCC Grade 1 Sarcoma semapv:UnspecifiedMatching MONDO:0005104 aJCC grade 1 sarcoma skos:exactMatch UMLS:C1332066 semapv:UnspecifiedMatching MONDO:0005105 melanoma skos:exactMatch DOID:1909 melanoma semapv:UnspecifiedMatching MONDO:0005105 melanoma skos:exactMatch NCIT:C3224 Melanoma semapv:UnspecifiedMatching MONDO:0005105 melanoma skos:exactMatch SCTID:372244006 semapv:UnspecifiedMatching MONDO:0005105 melanoma skos:exactMatch UMLS:C0025202 semapv:UnspecifiedMatching MONDO:0005105 melanoma skos:exactMatch mesh:D008545 semapv:UnspecifiedMatching MONDO:0005106 lipoma skos:exactMatch DOID:3315 lipoma semapv:UnspecifiedMatching MONDO:0005106 lipoma skos:exactMatch NCIT:C3192 Lipoma semapv:UnspecifiedMatching MONDO:0005106 lipoma skos:exactMatch SCTID:93163002 semapv:UnspecifiedMatching MONDO:0005106 lipoma skos:exactMatch UMLS:C0023798 semapv:UnspecifiedMatching MONDO:0005106 lipoma skos:exactMatch mesh:D008067 semapv:UnspecifiedMatching MONDO:0005108 viral infectious disease skos:exactMatch DOID:934 viral infectious disease semapv:UnspecifiedMatching MONDO:0005108 viral infectious disease skos:exactMatch NCIT:C3439 Viral Infection semapv:UnspecifiedMatching MONDO:0005108 viral infectious disease skos:exactMatch SCTID:34014006 semapv:UnspecifiedMatching MONDO:0005108 viral infectious disease skos:exactMatch mesh:D014777 semapv:UnspecifiedMatching MONDO:0005109 HIV infectious disease skos:exactMatch DOID:526 human immunodeficiency virus infectious disease semapv:UnspecifiedMatching MONDO:0005109 HIV infectious disease skos:exactMatch ICD10CM:B20-B20 Human immunodeficiency virus [HIV] disease (B20) semapv:UnspecifiedMatching MONDO:0005109 HIV infectious disease skos:exactMatch NCIT:C3108 HIV Infection semapv:UnspecifiedMatching MONDO:0005109 HIV infectious disease skos:exactMatch SCTID:86406008 semapv:UnspecifiedMatching MONDO:0005109 HIV infectious disease skos:exactMatch UMLS:C0019693 semapv:UnspecifiedMatching MONDO:0005109 HIV infectious disease skos:exactMatch mesh:D015658 semapv:UnspecifiedMatching MONDO:0005110 idiopathic cardiomyopathy skos:exactMatch NCIT:C53654 Idiopathic Cardiomyopathy semapv:UnspecifiedMatching MONDO:0005111 Epstein-Barr virus infection skos:exactMatch NCIT:C38759 EBV Infection semapv:UnspecifiedMatching MONDO:0005111 Epstein-Barr virus infection skos:exactMatch UMLS:C0149678 semapv:UnspecifiedMatching MONDO:0005111 Epstein-Barr virus infection skos:exactMatch mesh:D020031 semapv:UnspecifiedMatching MONDO:0005112 malignant pleural mesothelioma skos:exactMatch DOID:7474 malignant pleural mesothelioma semapv:UnspecifiedMatching MONDO:0005112 malignant pleural mesothelioma skos:exactMatch NCIT:C7376 Pleural Malignant Mesothelioma semapv:UnspecifiedMatching MONDO:0005112 malignant pleural mesothelioma skos:exactMatch SCTID:254645002 semapv:UnspecifiedMatching MONDO:0005112 malignant pleural mesothelioma skos:exactMatch UMLS:C0812413 semapv:UnspecifiedMatching MONDO:0005113 bacterial infectious disease skos:exactMatch DOID:104 bacterial infectious disease semapv:UnspecifiedMatching MONDO:0005113 bacterial infectious disease skos:exactMatch NCIT:C2890 Bacterial Infection semapv:UnspecifiedMatching MONDO:0005113 bacterial infectious disease skos:exactMatch SCTID:87628006 semapv:UnspecifiedMatching MONDO:0005113 bacterial infectious disease skos:exactMatch UMLS:C0004623 semapv:UnspecifiedMatching MONDO:0005113 bacterial infectious disease skos:exactMatch mesh:D001424 semapv:UnspecifiedMatching MONDO:0005114 pneumococcal infection skos:exactMatch SCTID:16814004 semapv:UnspecifiedMatching MONDO:0005114 pneumococcal infection skos:exactMatch UMLS:C0032269 semapv:UnspecifiedMatching MONDO:0005114 pneumococcal infection skos:exactMatch mesh:D011008 semapv:UnspecifiedMatching MONDO:0005115 temporal lobe epilepsy skos:exactMatch DOID:3328 temporal lobe epilepsy semapv:UnspecifiedMatching MONDO:0005115 temporal lobe epilepsy skos:exactMatch NCIT:C177244 Temporal Lobe Epilepsy semapv:UnspecifiedMatching MONDO:0005115 temporal lobe epilepsy skos:exactMatch OMIMPS:600512 semapv:UnspecifiedMatching MONDO:0005115 temporal lobe epilepsy skos:exactMatch SCTID:783739005 semapv:UnspecifiedMatching MONDO:0005115 temporal lobe epilepsy skos:exactMatch UMLS:C0014556 semapv:UnspecifiedMatching MONDO:0005115 temporal lobe epilepsy skos:exactMatch mesh:D004833 semapv:UnspecifiedMatching MONDO:0005116 Whipple disease skos:exactMatch DOID:8476 Whipple disease semapv:UnspecifiedMatching MONDO:0005116 Whipple disease skos:exactMatch ICD10CM:K90.81 Whipple's disease semapv:UnspecifiedMatching MONDO:0005116 Whipple disease skos:exactMatch NCIT:C85228 Whipple Disease semapv:UnspecifiedMatching MONDO:0005116 Whipple disease skos:exactMatch Orphanet:3452 Whipple disease semapv:UnspecifiedMatching MONDO:0005116 Whipple disease skos:exactMatch SCTID:41545003 semapv:UnspecifiedMatching MONDO:0005116 Whipple disease skos:exactMatch UMLS:C0023788 semapv:UnspecifiedMatching MONDO:0005116 Whipple disease skos:exactMatch mesh:D008061 semapv:UnspecifiedMatching MONDO:0005118 human granulocytic ehrlichiosis skos:exactMatch DOID:0050025 human granulocytic anaplasmosis semapv:UnspecifiedMatching MONDO:0005118 human granulocytic ehrlichiosis skos:exactMatch SCTID:85708001 semapv:UnspecifiedMatching MONDO:0005119 anthrax infection skos:exactMatch DOID:7427 anthrax disease semapv:UnspecifiedMatching MONDO:0005119 anthrax infection skos:exactMatch NCIT:C84565 Anthrax semapv:UnspecifiedMatching MONDO:0005119 anthrax infection skos:exactMatch SCTID:409498004 semapv:UnspecifiedMatching MONDO:0005119 anthrax infection skos:exactMatch UMLS:C0003175 semapv:UnspecifiedMatching MONDO:0005119 anthrax infection skos:exactMatch mesh:D000881 semapv:UnspecifiedMatching MONDO:0005124 leprosy skos:exactMatch DOID:1024 leprosy semapv:UnspecifiedMatching MONDO:0005124 leprosy skos:exactMatch ICD10CM:A30 Leprosy [Hansen's disease] semapv:UnspecifiedMatching MONDO:0005124 leprosy skos:exactMatch NCIT:C84824 Leprosy semapv:UnspecifiedMatching MONDO:0005124 leprosy skos:exactMatch Orphanet:548 Leprosy semapv:UnspecifiedMatching MONDO:0005124 leprosy skos:exactMatch SCTID:81004002 semapv:UnspecifiedMatching MONDO:0005124 leprosy skos:exactMatch UMLS:C0023343 semapv:UnspecifiedMatching MONDO:0005124 leprosy skos:exactMatch mesh:D007918 semapv:UnspecifiedMatching MONDO:0005125 borderline leprosy skos:exactMatch DOID:1023 borderline leprosy semapv:UnspecifiedMatching MONDO:0005125 borderline leprosy skos:exactMatch ICD10CM:A30.3 Borderline leprosy semapv:UnspecifiedMatching MONDO:0005125 borderline leprosy skos:exactMatch SCTID:400154003 semapv:UnspecifiedMatching MONDO:0005125 borderline leprosy skos:exactMatch UMLS:C0023346 semapv:UnspecifiedMatching MONDO:0005125 borderline leprosy skos:exactMatch mesh:D015439 semapv:UnspecifiedMatching MONDO:0005126 tuberculoid leprosy skos:exactMatch DOID:1025 tuberculoid leprosy semapv:UnspecifiedMatching MONDO:0005126 tuberculoid leprosy skos:exactMatch ICD10CM:A30.1 Tuberculoid leprosy semapv:UnspecifiedMatching MONDO:0005126 tuberculoid leprosy skos:exactMatch SCTID:70143003 semapv:UnspecifiedMatching MONDO:0005126 tuberculoid leprosy skos:exactMatch UMLS:C0023351 semapv:UnspecifiedMatching MONDO:0005126 tuberculoid leprosy skos:exactMatch mesh:D015441 semapv:UnspecifiedMatching MONDO:0005127 lepromatous leprosy skos:exactMatch DOID:10887 lepromatous leprosy semapv:UnspecifiedMatching MONDO:0005127 lepromatous leprosy skos:exactMatch ICD10CM:A30.5 Lepromatous leprosy semapv:UnspecifiedMatching MONDO:0005127 lepromatous leprosy skos:exactMatch SCTID:21560005 semapv:UnspecifiedMatching MONDO:0005127 lepromatous leprosy skos:exactMatch UMLS:C0023348 semapv:UnspecifiedMatching MONDO:0005127 lepromatous leprosy skos:exactMatch mesh:D015440 semapv:UnspecifiedMatching MONDO:0005128 obsolete sensory system disease skos:exactMatch DOID:0050155 sensory system disease semapv:UnspecifiedMatching MONDO:0005129 cataract skos:exactMatch DOID:83 cataract semapv:UnspecifiedMatching MONDO:0005129 cataract skos:exactMatch NCIT:C26713 Cataract semapv:UnspecifiedMatching MONDO:0005129 cataract skos:exactMatch OMIMPS:116200 semapv:UnspecifiedMatching MONDO:0005129 cataract skos:exactMatch SCTID:193570009 semapv:UnspecifiedMatching MONDO:0005129 cataract skos:exactMatch mesh:D002386 semapv:UnspecifiedMatching MONDO:0005130 celiac disease skos:exactMatch DOID:10608 celiac disease semapv:UnspecifiedMatching MONDO:0005130 celiac disease skos:exactMatch ICD10CM:K90.0 Celiac disease semapv:UnspecifiedMatching MONDO:0005130 celiac disease skos:exactMatch NCIT:C26714 Celiac Disease semapv:UnspecifiedMatching MONDO:0005130 celiac disease skos:exactMatch OMIMPS:212750 semapv:UnspecifiedMatching MONDO:0005130 celiac disease skos:exactMatch SCTID:396331005 semapv:UnspecifiedMatching MONDO:0005130 celiac disease skos:exactMatch UMLS:C0007570 semapv:UnspecifiedMatching MONDO:0005130 celiac disease skos:exactMatch mesh:D002446 semapv:UnspecifiedMatching MONDO:0005131 cervical carcinoma skos:exactMatch DOID:2893 cervix carcinoma semapv:UnspecifiedMatching MONDO:0005131 cervical carcinoma skos:exactMatch NCIT:C9039 Cervical Carcinoma semapv:UnspecifiedMatching MONDO:0005131 cervical carcinoma skos:exactMatch SCTID:285432005 semapv:UnspecifiedMatching MONDO:0005131 cervical carcinoma skos:exactMatch UMLS:C0302592 semapv:UnspecifiedMatching MONDO:0005132 cytomegalovirus infection skos:exactMatch NCIT:C53649 Cytomegaloviral Infection semapv:UnspecifiedMatching MONDO:0005132 cytomegalovirus infection skos:exactMatch SCTID:28944009 semapv:UnspecifiedMatching MONDO:0005132 cytomegalovirus infection skos:exactMatch UMLS:C0010823 semapv:UnspecifiedMatching MONDO:0005132 cytomegalovirus infection skos:exactMatch mesh:D003586 semapv:UnspecifiedMatching MONDO:0005133 endometriosis skos:exactMatch DOID:289 endometriosis semapv:UnspecifiedMatching MONDO:0005133 endometriosis skos:exactMatch ICD10CM:N80 Endometriosis semapv:UnspecifiedMatching MONDO:0005133 endometriosis skos:exactMatch NCIT:C3014 Endometriosis semapv:UnspecifiedMatching MONDO:0005133 endometriosis skos:exactMatch SCTID:129103003 semapv:UnspecifiedMatching MONDO:0005133 endometriosis skos:exactMatch mesh:D004715 semapv:UnspecifiedMatching MONDO:0005134 experimental autoimmune encephalomyelitis skos:exactMatch mesh:D004681 semapv:UnspecifiedMatching MONDO:0005135 parasitic infectious disease skos:exactMatch DOID:1398 parasitic infectious disease semapv:UnspecifiedMatching MONDO:0005135 parasitic infectious disease skos:exactMatch NCIT:C27864 Parasitic Infection semapv:UnspecifiedMatching MONDO:0005135 parasitic infectious disease skos:exactMatch SCTID:17322007 semapv:UnspecifiedMatching MONDO:0005135 parasitic infectious disease skos:exactMatch mesh:D010272 semapv:UnspecifiedMatching MONDO:0005136 malaria skos:exactMatch DOID:12365 malaria semapv:UnspecifiedMatching MONDO:0005136 malaria skos:exactMatch ICD10CM:B53 Other specified malaria semapv:UnspecifiedMatching MONDO:0005136 malaria skos:exactMatch NCIT:C34797 Malaria semapv:UnspecifiedMatching MONDO:0005136 malaria skos:exactMatch Orphanet:673 Malaria semapv:UnspecifiedMatching MONDO:0005136 malaria skos:exactMatch SCTID:61462000 semapv:UnspecifiedMatching MONDO:0005136 malaria skos:exactMatch UMLS:C0024530 semapv:UnspecifiedMatching MONDO:0005136 malaria skos:exactMatch mesh:D008288 semapv:UnspecifiedMatching MONDO:0005137 nutritional disorder skos:exactMatch DOID:374 nutrition disease semapv:UnspecifiedMatching MONDO:0005137 nutritional disorder skos:exactMatch NCIT:C26836 Nutritional Disorder semapv:UnspecifiedMatching MONDO:0005137 nutritional disorder skos:exactMatch SCTID:2492009 semapv:UnspecifiedMatching MONDO:0005137 nutritional disorder skos:exactMatch UMLS:C3714509 semapv:UnspecifiedMatching MONDO:0005137 nutritional disorder skos:exactMatch mesh:D009748 semapv:UnspecifiedMatching MONDO:0005138 lung carcinoma skos:exactMatch DOID:3905 lung carcinoma semapv:UnspecifiedMatching MONDO:0005138 lung carcinoma skos:exactMatch NCIT:C4878 Lung Carcinoma semapv:UnspecifiedMatching MONDO:0005138 lung carcinoma skos:exactMatch UMLS:C0684249 semapv:UnspecifiedMatching MONDO:0005139 morbid obesity skos:exactMatch DOID:11981 morbid obesity semapv:UnspecifiedMatching MONDO:0005139 morbid obesity skos:exactMatch SCTID:83911000119104 semapv:UnspecifiedMatching MONDO:0005139 morbid obesity skos:exactMatch UMLS:C0028756 semapv:UnspecifiedMatching MONDO:0005139 morbid obesity skos:exactMatch mesh:D009767 semapv:UnspecifiedMatching MONDO:0005140 ovarian carcinoma skos:exactMatch DOID:4001 ovarian carcinoma semapv:UnspecifiedMatching MONDO:0005140 ovarian carcinoma skos:exactMatch NCIT:C4908 Ovarian Carcinoma semapv:UnspecifiedMatching MONDO:0005141 Pseudomonas infection skos:exactMatch SCTID:63398001 semapv:UnspecifiedMatching MONDO:0005141 Pseudomonas infection skos:exactMatch mesh:D011552 semapv:UnspecifiedMatching MONDO:0005144 familial amyotrophic lateral sclerosis skos:exactMatch OMIMPS:105400 semapv:UnspecifiedMatching MONDO:0005145 sporadic amyotrophic lateral sclerosis skos:exactMatch DOID:0080917 sporatic amyotrophic lateral sclerosis semapv:UnspecifiedMatching MONDO:0005146 post-traumatic stress disorder skos:exactMatch DOID:2055 post-traumatic stress disorder semapv:UnspecifiedMatching MONDO:0005146 post-traumatic stress disorder skos:exactMatch NCIT:C3389 Post-Traumatic Stress Disorder semapv:UnspecifiedMatching MONDO:0005146 post-traumatic stress disorder skos:exactMatch SCTID:47505003 semapv:UnspecifiedMatching MONDO:0005146 post-traumatic stress disorder skos:exactMatch mesh:D013313 semapv:UnspecifiedMatching MONDO:0005147 type 1 diabetes mellitus skos:exactMatch DOID:9744 type 1 diabetes mellitus semapv:UnspecifiedMatching MONDO:0005147 type 1 diabetes mellitus skos:exactMatch NCIT:C2986 Type 1 Diabetes Mellitus semapv:UnspecifiedMatching MONDO:0005147 type 1 diabetes mellitus skos:exactMatch OMIM:222100 iia 1 diabetes mellitus semapv:UnspecifiedMatching MONDO:0005147 type 1 diabetes mellitus skos:exactMatch SCTID:46635009 semapv:UnspecifiedMatching MONDO:0005147 type 1 diabetes mellitus skos:exactMatch mesh:D003922 semapv:UnspecifiedMatching MONDO:0005148 type 2 diabetes mellitus skos:exactMatch DOID:9352 type 2 diabetes mellitus semapv:UnspecifiedMatching MONDO:0005148 type 2 diabetes mellitus skos:exactMatch NCIT:C26747 Type 2 Diabetes Mellitus semapv:UnspecifiedMatching MONDO:0005148 type 2 diabetes mellitus skos:exactMatch OMIM:125853 iia 2 diabetes mellitus semapv:UnspecifiedMatching MONDO:0005148 type 2 diabetes mellitus skos:exactMatch SCTID:44054006 semapv:UnspecifiedMatching MONDO:0005148 type 2 diabetes mellitus skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching MONDO:0005148 type 2 diabetes mellitus skos:exactMatch mesh:D003924 semapv:UnspecifiedMatching MONDO:0005149 pulmonary hypertension skos:exactMatch DOID:6432 pulmonary hypertension semapv:UnspecifiedMatching MONDO:0005149 pulmonary hypertension skos:exactMatch SCTID:70995007 semapv:UnspecifiedMatching MONDO:0005149 pulmonary hypertension skos:exactMatch mesh:D006976 semapv:UnspecifiedMatching MONDO:0005150 age-related macular degeneration skos:exactMatch DOID:10871 age related macular degeneration semapv:UnspecifiedMatching MONDO:0005150 age-related macular degeneration skos:exactMatch NCIT:C84391 Age-Related Macular Degeneration semapv:UnspecifiedMatching MONDO:0005150 age-related macular degeneration skos:exactMatch OMIMPS:603075 semapv:UnspecifiedMatching MONDO:0005150 age-related macular degeneration skos:exactMatch SCTID:267718000 semapv:UnspecifiedMatching MONDO:0005150 age-related macular degeneration skos:exactMatch UMLS:C0242383 semapv:UnspecifiedMatching MONDO:0005151 endocrine system disorder skos:exactMatch DOID:28 endocrine system disease semapv:UnspecifiedMatching MONDO:0005151 endocrine system disorder skos:exactMatch NCIT:C3009 Endocrine System Disorder semapv:UnspecifiedMatching MONDO:0005151 endocrine system disorder skos:exactMatch SCTID:362969004 semapv:UnspecifiedMatching MONDO:0005151 endocrine system disorder skos:exactMatch UMLS:C0014130 semapv:UnspecifiedMatching MONDO:0005151 endocrine system disorder skos:exactMatch mesh:D004700 semapv:UnspecifiedMatching MONDO:0005152 hypopituitarism skos:exactMatch DOID:9406 hypopituitarism semapv:UnspecifiedMatching MONDO:0005152 hypopituitarism skos:exactMatch ICD10CM:E23.0 Hypopituitarism semapv:UnspecifiedMatching MONDO:0005152 hypopituitarism skos:exactMatch NCIT:C62591 Hypopituitarism semapv:UnspecifiedMatching MONDO:0005152 hypopituitarism skos:exactMatch SCTID:74728003 semapv:UnspecifiedMatching MONDO:0005152 hypopituitarism skos:exactMatch UMLS:C0020635 semapv:UnspecifiedMatching MONDO:0005152 hypopituitarism skos:exactMatch mesh:D007018 semapv:UnspecifiedMatching MONDO:0005153 cervical adenocarcinoma skos:exactMatch DOID:3702 cervical adenocarcinoma semapv:UnspecifiedMatching MONDO:0005153 cervical adenocarcinoma skos:exactMatch NCIT:C4029 Cervical Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005153 cervical adenocarcinoma skos:exactMatch Orphanet:213772 Adenocarcinoma of the cervix uteri semapv:UnspecifiedMatching MONDO:0005153 cervical adenocarcinoma skos:exactMatch SCTID:254887002 semapv:UnspecifiedMatching MONDO:0005154 liver disorder skos:exactMatch DOID:409 liver disease semapv:UnspecifiedMatching MONDO:0005154 liver disorder skos:exactMatch ICD10CM:K70-K77 Diseases of liver (K70-K77) semapv:UnspecifiedMatching MONDO:0005154 liver disorder skos:exactMatch NCIT:C3196 Liver and Intrahepatic Bile Duct Disorder semapv:UnspecifiedMatching MONDO:0005154 liver disorder skos:exactMatch SCTID:235856003 semapv:UnspecifiedMatching MONDO:0005154 liver disorder skos:exactMatch UMLS:C4021780 semapv:UnspecifiedMatching MONDO:0005154 liver disorder skos:exactMatch mesh:D008107 semapv:UnspecifiedMatching MONDO:0005155 cirrhosis of liver skos:exactMatch DOID:5082 liver cirrhosis semapv:UnspecifiedMatching MONDO:0005155 cirrhosis of liver skos:exactMatch NCIT:C2951 Cirrhosis semapv:UnspecifiedMatching MONDO:0005155 cirrhosis of liver skos:exactMatch SCTID:19943007 semapv:UnspecifiedMatching MONDO:0005155 cirrhosis of liver skos:exactMatch UMLS:C0023890 semapv:UnspecifiedMatching MONDO:0005155 cirrhosis of liver skos:exactMatch mesh:D008103 semapv:UnspecifiedMatching MONDO:0005156 encephalomyelitis skos:exactMatch DOID:640 encephalomyelitis semapv:UnspecifiedMatching MONDO:0005156 encephalomyelitis skos:exactMatch NCIT:C34580 Encephalomyelitis semapv:UnspecifiedMatching MONDO:0005156 encephalomyelitis skos:exactMatch SCTID:62950007 semapv:UnspecifiedMatching MONDO:0005156 encephalomyelitis skos:exactMatch UMLS:C0014070 semapv:UnspecifiedMatching MONDO:0005156 encephalomyelitis skos:exactMatch mesh:D004679 semapv:UnspecifiedMatching MONDO:0005157 lymphoid neoplasm skos:exactMatch NCIT:C7065 Lymphocytic Neoplasm semapv:UnspecifiedMatching MONDO:0005157 lymphoid neoplasm skos:exactMatch UMLS:C0598798 semapv:UnspecifiedMatching MONDO:0005159 prostate carcinoma skos:exactMatch DOID:10286 prostate carcinoma semapv:UnspecifiedMatching MONDO:0005159 prostate carcinoma skos:exactMatch NCIT:C4863 Prostate Carcinoma semapv:UnspecifiedMatching MONDO:0005159 prostate carcinoma skos:exactMatch UMLS:C0600139 semapv:UnspecifiedMatching MONDO:0005160 aortic aneurysm skos:exactMatch DOID:3627 aortic aneurysm semapv:UnspecifiedMatching MONDO:0005160 aortic aneurysm skos:exactMatch SCTID:73067008 semapv:UnspecifiedMatching MONDO:0005160 aortic aneurysm skos:exactMatch UMLS:C0003486 semapv:UnspecifiedMatching MONDO:0005160 aortic aneurysm skos:exactMatch mesh:D001014 semapv:UnspecifiedMatching MONDO:0005161 human papilloma virus infection skos:exactMatch DOID:11166 Human papillomavirus infectious disease semapv:UnspecifiedMatching MONDO:0005161 human papilloma virus infection skos:exactMatch NCIT:C27851 Human Papillomavirus Infection semapv:UnspecifiedMatching MONDO:0005161 human papilloma virus infection skos:exactMatch SCTID:240532009 semapv:UnspecifiedMatching MONDO:0005161 human papilloma virus infection skos:exactMatch UMLS:C0343641 semapv:UnspecifiedMatching MONDO:0005164 fibrosarcoma skos:exactMatch DOID:3355 fibrosarcoma semapv:UnspecifiedMatching MONDO:0005164 fibrosarcoma skos:exactMatch NCIT:C3043 Fibrosarcoma semapv:UnspecifiedMatching MONDO:0005164 fibrosarcoma skos:exactMatch Orphanet:2030 Fibrosarcoma semapv:UnspecifiedMatching MONDO:0005164 fibrosarcoma skos:exactMatch SCTID:443250000 semapv:UnspecifiedMatching MONDO:0005164 fibrosarcoma skos:exactMatch UMLS:C0016057 semapv:UnspecifiedMatching MONDO:0005164 fibrosarcoma skos:exactMatch mesh:D005354 semapv:UnspecifiedMatching MONDO:0005165 benign neoplasm skos:exactMatch DOID:0060072 benign neoplasm semapv:UnspecifiedMatching MONDO:0005165 benign neoplasm skos:exactMatch DOID:0060084 cell type benign neoplasm semapv:UnspecifiedMatching MONDO:0005165 benign neoplasm skos:exactMatch DOID:0060085 organ system benign neoplasm semapv:UnspecifiedMatching MONDO:0005165 benign neoplasm skos:exactMatch ICD10CM:D10-D36 Benign neoplasms, except benign neuroendocrine tumors (D10-D36) semapv:UnspecifiedMatching MONDO:0005165 benign neoplasm skos:exactMatch ICD10WHO:D10-D36 Benign neoplasms semapv:UnspecifiedMatching MONDO:0005165 benign neoplasm skos:exactMatch NCIT:C3677 Benign Neoplasm semapv:UnspecifiedMatching MONDO:0005165 benign neoplasm skos:exactMatch SCTID:20376005 semapv:UnspecifiedMatching MONDO:0005166 osteoma skos:exactMatch NCIT:C3296 Osteoma semapv:UnspecifiedMatching MONDO:0005166 osteoma skos:exactMatch SCTID:302858007 semapv:UnspecifiedMatching MONDO:0005166 osteoma skos:exactMatch UMLS:C0029440 semapv:UnspecifiedMatching MONDO:0005166 osteoma skos:exactMatch mesh:D010016 semapv:UnspecifiedMatching MONDO:0005167 fibroma skos:exactMatch DOID:0050871 fibroma semapv:UnspecifiedMatching MONDO:0005167 fibroma skos:exactMatch NCIT:C3041 Fibroma semapv:UnspecifiedMatching MONDO:0005167 fibroma skos:exactMatch SCTID:424568000 semapv:UnspecifiedMatching MONDO:0005167 fibroma skos:exactMatch mesh:D005350 semapv:UnspecifiedMatching MONDO:0005169 neoplasm of mature T-cells or NK-cells skos:exactMatch NCIT:C27909 Mature T-Cell and NK-Cell Neoplasm semapv:UnspecifiedMatching MONDO:0005169 neoplasm of mature T-cells or NK-cells skos:exactMatch UMLS:C1334640 semapv:UnspecifiedMatching MONDO:0005170 myeloid neoplasm skos:exactMatch DOID:0070004 myeloid neoplasm semapv:UnspecifiedMatching MONDO:0005170 myeloid neoplasm skos:exactMatch NCIT:C9290 Myeloid Neoplasm semapv:UnspecifiedMatching MONDO:0005170 myeloid neoplasm skos:exactMatch UMLS:C2939461 semapv:UnspecifiedMatching MONDO:0005172 skeletal system disorder skos:exactMatch SCTID:88230002 semapv:UnspecifiedMatching MONDO:0005172 skeletal system disorder skos:exactMatch UMLS:C0263661 semapv:UnspecifiedMatching MONDO:0005173 actinic keratosis skos:exactMatch DOID:8866 actinic keratosis semapv:UnspecifiedMatching MONDO:0005173 actinic keratosis skos:exactMatch ICD10CM:L57.0 Actinic keratosis semapv:UnspecifiedMatching MONDO:0005173 actinic keratosis skos:exactMatch NCIT:C3148 Actinic Keratosis semapv:UnspecifiedMatching MONDO:0005173 actinic keratosis skos:exactMatch SCTID:201101007 semapv:UnspecifiedMatching MONDO:0005173 actinic keratosis skos:exactMatch UMLS:C0022602 semapv:UnspecifiedMatching MONDO:0005173 actinic keratosis skos:exactMatch mesh:D055623 semapv:UnspecifiedMatching MONDO:0005177 serous cystadenoma skos:exactMatch NCIT:C3783 Serous Cystadenoma semapv:UnspecifiedMatching MONDO:0005178 osteoarthritis skos:exactMatch DOID:8398 osteoarthritis semapv:UnspecifiedMatching MONDO:0005178 osteoarthritis skos:exactMatch ICD10CM:M15-M19 Osteoarthritis (M15-M19) semapv:UnspecifiedMatching MONDO:0005178 osteoarthritis skos:exactMatch ICD10CM:M19 Other and unspecified osteoarthritis semapv:UnspecifiedMatching MONDO:0005178 osteoarthritis skos:exactMatch NCIT:C3293 Osteoarthritis semapv:UnspecifiedMatching MONDO:0005178 osteoarthritis skos:exactMatch SCTID:396275006 semapv:UnspecifiedMatching MONDO:0005178 osteoarthritis skos:exactMatch UMLS:C0029408 semapv:UnspecifiedMatching MONDO:0005178 osteoarthritis skos:exactMatch mesh:D010003 semapv:UnspecifiedMatching MONDO:0005180 Parkinson disease skos:exactMatch DOID:14330 Parkinson's disease semapv:UnspecifiedMatching MONDO:0005180 Parkinson disease skos:exactMatch NCIT:C26845 Parkinson's Disease semapv:UnspecifiedMatching MONDO:0005180 Parkinson disease skos:exactMatch OMIMPS:168600 semapv:UnspecifiedMatching MONDO:0005180 Parkinson disease skos:exactMatch SCTID:49049000 semapv:UnspecifiedMatching MONDO:0005180 Parkinson disease skos:exactMatch UMLS:C0030567 semapv:UnspecifiedMatching MONDO:0005180 Parkinson disease skos:exactMatch mesh:D010300 semapv:UnspecifiedMatching MONDO:0005181 progressive external ophthalmoplegia skos:exactMatch DOID:12558 chronic progressive external ophthalmoplegia semapv:UnspecifiedMatching MONDO:0005181 progressive external ophthalmoplegia skos:exactMatch ICD10CM:H49.4 Progressive external ophthalmoplegia semapv:UnspecifiedMatching MONDO:0005181 progressive external ophthalmoplegia skos:exactMatch Orphanet:520820 Progressive external ophthalmoplegia semapv:UnspecifiedMatching MONDO:0005181 progressive external ophthalmoplegia skos:exactMatch SCTID:46252003 semapv:UnspecifiedMatching MONDO:0005181 progressive external ophthalmoplegia skos:exactMatch mesh:D017246 semapv:UnspecifiedMatching MONDO:0005183 ovarian cystadenoma skos:exactMatch DOID:3269 ovarian cystadenoma semapv:UnspecifiedMatching MONDO:0005183 ovarian cystadenoma skos:exactMatch NCIT:C4060 Ovarian Cystadenoma semapv:UnspecifiedMatching MONDO:0005183 ovarian cystadenoma skos:exactMatch SCTID:198297004 semapv:UnspecifiedMatching MONDO:0005183 ovarian cystadenoma skos:exactMatch UMLS:C0346169 semapv:UnspecifiedMatching MONDO:0005184 pancreatic ductal adenocarcinoma skos:exactMatch DOID:3498 pancreatic ductal adenocarcinoma semapv:UnspecifiedMatching MONDO:0005184 pancreatic ductal adenocarcinoma skos:exactMatch DOID:3587 pancreatic ductal carcinoma semapv:UnspecifiedMatching MONDO:0005184 pancreatic ductal adenocarcinoma skos:exactMatch NCIT:C9120 Pancreatic Ductal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005184 pancreatic ductal adenocarcinoma skos:exactMatch UMLS:C1335302 semapv:UnspecifiedMatching MONDO:0005184 pancreatic ductal adenocarcinoma skos:exactMatch mesh:D021441 semapv:UnspecifiedMatching MONDO:0005185 chronic childhood arthritis skos:exactMatch NCIT:C27179 Juvenile Rheumatoid Arthritis semapv:UnspecifiedMatching MONDO:0005185 chronic childhood arthritis skos:exactMatch SCTID:410793008 semapv:UnspecifiedMatching MONDO:0005186 cocaine dependence skos:exactMatch DOID:9975 cocaine dependence semapv:UnspecifiedMatching MONDO:0005186 cocaine dependence skos:exactMatch NCIT:C34492 Cocaine Dependence semapv:UnspecifiedMatching MONDO:0005186 cocaine dependence skos:exactMatch SCTID:31956009 semapv:UnspecifiedMatching MONDO:0005187 human herpesvirus 8 infection skos:exactMatch NCIT:C39291 HHV8 Infection semapv:UnspecifiedMatching MONDO:0005187 human herpesvirus 8 infection skos:exactMatch UMLS:C1512508 semapv:UnspecifiedMatching MONDO:0005188 iatrogenic Kaposi's sarcoma skos:exactMatch NCIT:C35873 Iatrogenic Kaposi Sarcoma semapv:UnspecifiedMatching MONDO:0005188 iatrogenic Kaposi's sarcoma skos:exactMatch UMLS:C1334149 semapv:UnspecifiedMatching MONDO:0005189 internal carotid artery stenosis skos:exactMatch SCTID:233964008 semapv:UnspecifiedMatching MONDO:0005190 macroglobulinemia skos:exactMatch DOID:9080 macroglobulinemia semapv:UnspecifiedMatching MONDO:0005190 macroglobulinemia skos:exactMatch SCTID:190817009 semapv:UnspecifiedMatching MONDO:0005191 metastatic melanoma skos:exactMatch NCIT:C8925 Metastatic Melanoma semapv:UnspecifiedMatching MONDO:0005191 metastatic melanoma skos:exactMatch SCTID:443493003 semapv:UnspecifiedMatching MONDO:0005191 metastatic melanoma skos:exactMatch UMLS:C0278883 semapv:UnspecifiedMatching MONDO:0005192 exocrine pancreatic carcinoma skos:exactMatch DOID:4905 pancreatic carcinoma semapv:UnspecifiedMatching MONDO:0005192 exocrine pancreatic carcinoma skos:exactMatch NCIT:C3850 Pancreatic Carcinoma semapv:UnspecifiedMatching MONDO:0005192 exocrine pancreatic carcinoma skos:exactMatch SCTID:372142002 semapv:UnspecifiedMatching MONDO:0005192 exocrine pancreatic carcinoma skos:exactMatch UMLS:C0235974 semapv:UnspecifiedMatching MONDO:0005193 prostate intraepithelial neoplasia skos:exactMatch NCIT:C4064 Prostatic Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO:0005193 prostate intraepithelial neoplasia skos:exactMatch SCTID:254901000 semapv:UnspecifiedMatching MONDO:0005193 prostate intraepithelial neoplasia skos:exactMatch UMLS:C0282612 semapv:UnspecifiedMatching MONDO:0005193 prostate intraepithelial neoplasia skos:exactMatch mesh:D019048 semapv:UnspecifiedMatching MONDO:0005194 Rotavirus infection skos:exactMatch SCTID:18624000 semapv:UnspecifiedMatching MONDO:0005194 Rotavirus infection skos:exactMatch UMLS:C0035869 semapv:UnspecifiedMatching MONDO:0005194 Rotavirus infection skos:exactMatch mesh:D012400 semapv:UnspecifiedMatching MONDO:0005196 obsolete teratozoospermia skos:exactMatch SCTID:236817003 semapv:UnspecifiedMatching MONDO:0005196 obsolete teratozoospermia skos:exactMatch UMLS:C0403824 semapv:UnspecifiedMatching MONDO:0005197 thymus neoplasm skos:exactMatch NCIT:C3412 Thymus Neoplasm semapv:UnspecifiedMatching MONDO:0005197 thymus neoplasm skos:exactMatch Orphanet:100100 Thymic tumor semapv:UnspecifiedMatching MONDO:0005197 thymus neoplasm skos:exactMatch SCTID:127231009 semapv:UnspecifiedMatching MONDO:0005197 thymus neoplasm skos:exactMatch UMLS:C3714644 semapv:UnspecifiedMatching MONDO:0005198 vulvar intraepithelial neoplasia skos:exactMatch NCIT:C4756 Vulvar Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO:0005198 vulvar intraepithelial neoplasia skos:exactMatch Orphanet:137583 Vulvar intraepithelial neoplasia semapv:UnspecifiedMatching MONDO:0005198 vulvar intraepithelial neoplasia skos:exactMatch UMLS:C0346210 semapv:UnspecifiedMatching MONDO:0005200 viral dilated cardiomyopathy skos:exactMatch SCTID:30496006 semapv:UnspecifiedMatching MONDO:0005200 viral dilated cardiomyopathy skos:exactMatch UMLS:C0264797 semapv:UnspecifiedMatching MONDO:0005201 restrictive cardiomyopathy skos:exactMatch DOID:397 restrictive cardiomyopathy semapv:UnspecifiedMatching MONDO:0005201 restrictive cardiomyopathy skos:exactMatch NCIT:C62798 Restrictive Cardiomyopathy semapv:UnspecifiedMatching MONDO:0005201 restrictive cardiomyopathy skos:exactMatch Orphanet:217632 Restrictive cardiomyopathy semapv:UnspecifiedMatching MONDO:0005201 restrictive cardiomyopathy skos:exactMatch SCTID:415295002 semapv:UnspecifiedMatching MONDO:0005201 restrictive cardiomyopathy skos:exactMatch UMLS:C0007196 semapv:UnspecifiedMatching MONDO:0005201 restrictive cardiomyopathy skos:exactMatch mesh:D002313 semapv:UnspecifiedMatching MONDO:0005202 atopic IgE-mediated allergic disorder skos:exactMatch SCTID:115665000 semapv:UnspecifiedMatching MONDO:0005202 atopic IgE-mediated allergic disorder skos:exactMatch UMLS:C1706410 semapv:UnspecifiedMatching MONDO:0005203 ischemia reperfusion injury skos:exactMatch mesh:D015427 semapv:UnspecifiedMatching MONDO:0005204 primary antiphospholipid syndrome skos:exactMatch SCTID:239892009 semapv:UnspecifiedMatching MONDO:0005204 primary antiphospholipid syndrome skos:exactMatch UMLS:C0409980 semapv:UnspecifiedMatching MONDO:0005206 renal carcinoma skos:exactMatch DOID:4451 renal carcinoma semapv:UnspecifiedMatching MONDO:0005206 renal carcinoma skos:exactMatch NCIT:C9384 Kidney Carcinoma semapv:UnspecifiedMatching MONDO:0005206 renal carcinoma skos:exactMatch UMLS:C1378703 semapv:UnspecifiedMatching MONDO:0005207 choriocarcinoma skos:exactMatch DOID:3594 choriocarcinoma semapv:UnspecifiedMatching MONDO:0005207 choriocarcinoma skos:exactMatch NCIT:C2948 Choriocarcinoma semapv:UnspecifiedMatching MONDO:0005207 choriocarcinoma skos:exactMatch SCTID:188188009 semapv:UnspecifiedMatching MONDO:0005207 choriocarcinoma skos:exactMatch UMLS:C0008497 semapv:UnspecifiedMatching MONDO:0005207 choriocarcinoma skos:exactMatch mesh:D002822 semapv:UnspecifiedMatching MONDO:0005208 amelanotic skin melanoma skos:exactMatch DOID:10054 skin amelanotic melanoma semapv:UnspecifiedMatching MONDO:0005208 amelanotic skin melanoma skos:exactMatch NCIT:C4633 Amelanotic Cutaneous Melanoma semapv:UnspecifiedMatching MONDO:0005208 amelanotic skin melanoma skos:exactMatch UMLS:C0349515 semapv:UnspecifiedMatching MONDO:0005210 uterine corpus sarcoma skos:exactMatch DOID:5165 uterine corpus sarcoma semapv:UnspecifiedMatching MONDO:0005210 uterine corpus sarcoma skos:exactMatch NCIT:C6339 Uterine Corpus Sarcoma semapv:UnspecifiedMatching MONDO:0005210 uterine corpus sarcoma skos:exactMatch Orphanet:213620 Sarcoma of the corpus uteri semapv:UnspecifiedMatching MONDO:0005210 uterine corpus sarcoma skos:exactMatch SCTID:254877001 semapv:UnspecifiedMatching MONDO:0005210 uterine corpus sarcoma skos:exactMatch UMLS:C0338113 semapv:UnspecifiedMatching MONDO:0005211 ovarian serous adenocarcinoma skos:exactMatch DOID:0050933 ovarian serous carcinoma semapv:UnspecifiedMatching MONDO:0005211 ovarian serous adenocarcinoma skos:exactMatch DOID:5744 ovary serous adenocarcinoma semapv:UnspecifiedMatching MONDO:0005211 ovarian serous adenocarcinoma skos:exactMatch NCIT:C7550 Ovarian Serous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005212 rhabdomyosarcoma skos:exactMatch DOID:3247 rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0005212 rhabdomyosarcoma skos:exactMatch NCIT:C3359 Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0005212 rhabdomyosarcoma skos:exactMatch Orphanet:780 Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0005212 rhabdomyosarcoma skos:exactMatch SCTID:302847003 semapv:UnspecifiedMatching MONDO:0005212 rhabdomyosarcoma skos:exactMatch UMLS:C0035412 semapv:UnspecifiedMatching MONDO:0005212 rhabdomyosarcoma skos:exactMatch mesh:D012208 semapv:UnspecifiedMatching MONDO:0005213 uterine carcinoma skos:exactMatch SCTID:446022000 semapv:UnspecifiedMatching MONDO:0005213 uterine carcinoma skos:exactMatch UMLS:C2960452 semapv:UnspecifiedMatching MONDO:0005214 vulva sarcoma skos:exactMatch DOID:2096 vulvar sarcoma semapv:UnspecifiedMatching MONDO:0005214 vulva sarcoma skos:exactMatch NCIT:C40317 Vulvar Sarcoma semapv:UnspecifiedMatching MONDO:0005214 vulva sarcoma skos:exactMatch SCTID:254897006 semapv:UnspecifiedMatching MONDO:0005214 vulva sarcoma skos:exactMatch UMLS:C0238525 semapv:UnspecifiedMatching MONDO:0005215 vulvar carcinoma skos:exactMatch DOID:1294 vulva carcinoma semapv:UnspecifiedMatching MONDO:0005215 vulvar carcinoma skos:exactMatch NCIT:C4866 Vulvar Carcinoma semapv:UnspecifiedMatching MONDO:0005215 vulvar carcinoma skos:exactMatch Orphanet:494418 Vulvar carcinoma semapv:UnspecifiedMatching MONDO:0005215 vulvar carcinoma skos:exactMatch SCTID:447882007 semapv:UnspecifiedMatching MONDO:0005215 vulvar carcinoma skos:exactMatch UMLS:C0677055 semapv:UnspecifiedMatching MONDO:0005216 hypopharyngeal carcinoma skos:exactMatch NCIT:C9465 Hypopharyngeal Carcinoma semapv:UnspecifiedMatching MONDO:0005217 familial cardiomyopathy skos:exactMatch SCTID:35728003 semapv:UnspecifiedMatching MONDO:0005217 familial cardiomyopathy skos:exactMatch UMLS:C0264789 semapv:UnspecifiedMatching MONDO:0005219 breast fibrocystic disease skos:exactMatch DOID:10354 breast fibrocystic disease semapv:UnspecifiedMatching MONDO:0005219 breast fibrocystic disease skos:exactMatch NCIT:C3039 Breast Fibrocystic Change semapv:UnspecifiedMatching MONDO:0005219 breast fibrocystic disease skos:exactMatch UMLS:C0016034 semapv:UnspecifiedMatching MONDO:0005219 breast fibrocystic disease skos:exactMatch mesh:D005348 semapv:UnspecifiedMatching MONDO:0005220 collecting duct carcinoma skos:exactMatch DOID:4464 collecting duct carcinoma semapv:UnspecifiedMatching MONDO:0005220 collecting duct carcinoma skos:exactMatch NCIT:C6194 Collecting Duct Carcinoma semapv:UnspecifiedMatching MONDO:0005220 collecting duct carcinoma skos:exactMatch Orphanet:247203 Collecting duct carcinoma semapv:UnspecifiedMatching MONDO:0005220 collecting duct carcinoma skos:exactMatch UMLS:C1266044 semapv:UnspecifiedMatching MONDO:0005221 renal pelvis urothelial carcinoma skos:exactMatch DOID:5974 renal pelvis transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0005221 renal pelvis urothelial carcinoma skos:exactMatch NCIT:C7355 Renal Pelvis Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0005221 renal pelvis urothelial carcinoma skos:exactMatch SCTID:408642003 semapv:UnspecifiedMatching MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:exactMatch DOID:0081085 acute myeloid leukemia with minimal differentiation semapv:UnspecifiedMatching MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:exactMatch NCIT:C8460 Acute Myeloid Leukemia with Minimal Differentiation semapv:UnspecifiedMatching MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:exactMatch Orphanet:98832 Acute myeloid leukemia with minimal differentiation semapv:UnspecifiedMatching MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:exactMatch UMLS:C0522631 semapv:UnspecifiedMatching MONDO:0005224 acute myeloblastic leukemia without maturation skos:exactMatch DOID:0081086 acute myeloid leukemia without maturation semapv:UnspecifiedMatching MONDO:0005224 acute myeloblastic leukemia without maturation skos:exactMatch NCIT:C3249 Acute Myeloid Leukemia without Maturation semapv:UnspecifiedMatching MONDO:0005224 acute myeloblastic leukemia without maturation skos:exactMatch Orphanet:98833 Acute myeloblastic leukemia without maturation semapv:UnspecifiedMatching MONDO:0005224 acute myeloblastic leukemia without maturation skos:exactMatch SCTID:359640008 semapv:UnspecifiedMatching MONDO:0005227 abscess skos:exactMatch NCIT:C26686 Abscess semapv:UnspecifiedMatching MONDO:0005227 abscess skos:exactMatch SCTID:128477000 semapv:UnspecifiedMatching MONDO:0005227 abscess skos:exactMatch UMLS:C0000833 semapv:UnspecifiedMatching MONDO:0005227 abscess skos:exactMatch mesh:D000038 semapv:UnspecifiedMatching MONDO:0005229 bacterial infectious disease with sepsis skos:exactMatch DOID:0040085 bacterial sepsis semapv:UnspecifiedMatching MONDO:0005229 bacterial infectious disease with sepsis skos:exactMatch SCTID:5758002 semapv:UnspecifiedMatching MONDO:0005229 bacterial infectious disease with sepsis skos:exactMatch UMLS:C0004610 semapv:UnspecifiedMatching MONDO:0005229 bacterial infectious disease with sepsis skos:exactMatch mesh:D016470 semapv:UnspecifiedMatching MONDO:0005230 cellulitis skos:exactMatch DOID:3488 cellulitis semapv:UnspecifiedMatching MONDO:0005230 cellulitis skos:exactMatch NCIT:C26715 Cellulitis semapv:UnspecifiedMatching MONDO:0005230 cellulitis skos:exactMatch SCTID:128045006 semapv:UnspecifiedMatching MONDO:0005230 cellulitis skos:exactMatch mesh:D002481 semapv:UnspecifiedMatching MONDO:0005231 hepatitis C virus infection skos:exactMatch DOID:1883 hepatitis C semapv:UnspecifiedMatching MONDO:0005231 hepatitis C virus infection skos:exactMatch NCIT:C3098 Hepatitis C Infection semapv:UnspecifiedMatching MONDO:0005231 hepatitis C virus infection skos:exactMatch SCTID:128302006 semapv:UnspecifiedMatching MONDO:0005231 hepatitis C virus infection skos:exactMatch UMLS:C0019196 semapv:UnspecifiedMatching MONDO:0005231 hepatitis C virus infection skos:exactMatch mesh:D006526 semapv:UnspecifiedMatching MONDO:0005232 large cell carcinoma skos:exactMatch DOID:4552 large cell carcinoma semapv:UnspecifiedMatching MONDO:0005232 large cell carcinoma skos:exactMatch NCIT:C3780 Large Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005232 large cell carcinoma skos:exactMatch UMLS:C0206704 semapv:UnspecifiedMatching MONDO:0005232 large cell carcinoma skos:exactMatch mesh:D018287 semapv:UnspecifiedMatching MONDO:0005233 non-small cell lung carcinoma skos:exactMatch DOID:3908 lung non-small cell carcinoma semapv:UnspecifiedMatching MONDO:0005233 non-small cell lung carcinoma skos:exactMatch NCIT:C2926 Lung Non-Small Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005233 non-small cell lung carcinoma skos:exactMatch SCTID:254637007 semapv:UnspecifiedMatching MONDO:0005233 non-small cell lung carcinoma skos:exactMatch UMLS:C0007131 semapv:UnspecifiedMatching MONDO:0005233 non-small cell lung carcinoma skos:exactMatch mesh:D002289 semapv:UnspecifiedMatching MONDO:0005235 smoldering plasma cell myeloma skos:exactMatch DOID:9551 smoldering myeloma semapv:UnspecifiedMatching MONDO:0005235 smoldering plasma cell myeloma skos:exactMatch NCIT:C7149 Smoldering Multiple Myeloma semapv:UnspecifiedMatching MONDO:0005235 smoldering plasma cell myeloma skos:exactMatch SCTID:440422002 semapv:UnspecifiedMatching MONDO:0005236 xanthoma skos:exactMatch NCIT:C4071 Xanthoma semapv:UnspecifiedMatching MONDO:0005238 round cell liposarcoma skos:exactMatch DOID:5692 cellular myxoid liposarcoma semapv:UnspecifiedMatching MONDO:0005238 round cell liposarcoma skos:exactMatch NCIT:C4252 Round Cell Liposarcoma semapv:UnspecifiedMatching MONDO:0005238 round cell liposarcoma skos:exactMatch SCTID:404070007 semapv:UnspecifiedMatching MONDO:0005238 round cell liposarcoma skos:exactMatch UMLS:C0334471 semapv:UnspecifiedMatching MONDO:0005240 kidney disorder skos:exactMatch DOID:557 kidney disease semapv:UnspecifiedMatching MONDO:0005240 kidney disorder skos:exactMatch NCIT:C3149 Kidney Disorder semapv:UnspecifiedMatching MONDO:0005240 kidney disorder skos:exactMatch SCTID:90708001 semapv:UnspecifiedMatching MONDO:0005240 kidney disorder skos:exactMatch UMLS:C0022658 semapv:UnspecifiedMatching MONDO:0005240 kidney disorder skos:exactMatch mesh:D007674 semapv:UnspecifiedMatching MONDO:0005242 empyema skos:exactMatch NCIT:C34572 Empyema semapv:UnspecifiedMatching MONDO:0005242 empyema skos:exactMatch SCTID:312682007 semapv:UnspecifiedMatching MONDO:0005242 empyema skos:exactMatch mesh:D004653 semapv:UnspecifiedMatching MONDO:0005244 peripheral neuropathy skos:exactMatch DOID:870 neuropathy semapv:UnspecifiedMatching MONDO:0005244 peripheral neuropathy skos:exactMatch NCIT:C119734 Peripheral Neuropathy semapv:UnspecifiedMatching MONDO:0005244 peripheral neuropathy skos:exactMatch NCIT:C4731 Neuropathy semapv:UnspecifiedMatching MONDO:0005244 peripheral neuropathy skos:exactMatch SCTID:386033004 semapv:UnspecifiedMatching MONDO:0005244 peripheral neuropathy skos:exactMatch UMLS:C0031117 semapv:UnspecifiedMatching MONDO:0005246 osteomyelitis skos:exactMatch DOID:1019 osteomyelitis semapv:UnspecifiedMatching MONDO:0005246 osteomyelitis skos:exactMatch NCIT:C27577 Osteomyelitis semapv:UnspecifiedMatching MONDO:0005246 osteomyelitis skos:exactMatch SCTID:60168000 semapv:UnspecifiedMatching MONDO:0005246 osteomyelitis skos:exactMatch UMLS:C0029443 semapv:UnspecifiedMatching MONDO:0005246 osteomyelitis skos:exactMatch mesh:D010019 semapv:UnspecifiedMatching MONDO:0005247 bacterial urinary tract infection skos:exactMatch NCIT:C50791 Urinary Tract Infection semapv:UnspecifiedMatching MONDO:0005247 bacterial urinary tract infection skos:exactMatch SCTID:68566005 semapv:UnspecifiedMatching MONDO:0005249 pneumonia skos:exactMatch DOID:552 pneumonia semapv:UnspecifiedMatching MONDO:0005249 pneumonia skos:exactMatch ICD10CM:J18.9 Pneumonia, unspecified organism semapv:UnspecifiedMatching MONDO:0005249 pneumonia skos:exactMatch NCIT:C3333 Pneumonia semapv:UnspecifiedMatching MONDO:0005249 pneumonia skos:exactMatch SCTID:233604007 semapv:UnspecifiedMatching MONDO:0005249 pneumonia skos:exactMatch UMLS:C0032285 semapv:UnspecifiedMatching MONDO:0005249 pneumonia skos:exactMatch mesh:D011014 semapv:UnspecifiedMatching MONDO:0005250 placental villitis skos:exactMatch SCTID:388604008 semapv:UnspecifiedMatching MONDO:0005250 placental villitis skos:exactMatch UMLS:C1270169 semapv:UnspecifiedMatching MONDO:0005251 obsolete pauciarticular juvenile rheumatoid arthritis skos:exactMatch ICD10CM:M08.4 Pauciarticular juvenile rheumatoid arthritis semapv:UnspecifiedMatching MONDO:0005251 obsolete pauciarticular juvenile rheumatoid arthritis skos:exactMatch SCTID:74391003 semapv:UnspecifiedMatching MONDO:0005252 heart failure skos:exactMatch NCIT:C50577 Heart Failure semapv:UnspecifiedMatching MONDO:0005252 heart failure skos:exactMatch SCTID:84114007 semapv:UnspecifiedMatching MONDO:0005252 heart failure skos:exactMatch UMLS:C0018801 semapv:UnspecifiedMatching MONDO:0005252 heart failure skos:exactMatch mesh:D006333 semapv:UnspecifiedMatching MONDO:0005253 high output heart failure skos:exactMatch SCTID:10091002 semapv:UnspecifiedMatching MONDO:0005253 high output heart failure skos:exactMatch UMLS:C0221045 semapv:UnspecifiedMatching MONDO:0005258 autism spectrum disorder skos:exactMatch DOID:0060041 autism spectrum disorder semapv:UnspecifiedMatching MONDO:0005258 autism spectrum disorder skos:exactMatch NCIT:C88412 Autism Spectrum Disorder semapv:UnspecifiedMatching MONDO:0005258 autism spectrum disorder skos:exactMatch SCTID:408856003 semapv:UnspecifiedMatching MONDO:0005259 Asperger syndrome skos:exactMatch DOID:0050432 Asperger syndrome semapv:UnspecifiedMatching MONDO:0005259 Asperger syndrome skos:exactMatch NCIT:C97159 Asperger Syndrome semapv:UnspecifiedMatching MONDO:0005259 Asperger syndrome skos:exactMatch SCTID:23560001 semapv:UnspecifiedMatching MONDO:0005259 Asperger syndrome skos:exactMatch mesh:D020817 semapv:UnspecifiedMatching MONDO:0005260 autism skos:exactMatch DOID:12849 autistic disorder semapv:UnspecifiedMatching MONDO:0005260 autism skos:exactMatch NCIT:C97161 Autism semapv:UnspecifiedMatching MONDO:0005260 autism skos:exactMatch OMIM:209850 autism semapv:UnspecifiedMatching MONDO:0005260 autism skos:exactMatch mesh:D001321 semapv:UnspecifiedMatching MONDO:0005262 central nervous system cyst skos:exactMatch NCIT:C4657 Central Nervous System Cyst semapv:UnspecifiedMatching MONDO:0005262 central nervous system cyst skos:exactMatch SCTID:277333006 semapv:UnspecifiedMatching MONDO:0005262 central nervous system cyst skos:exactMatch UMLS:C0349606 semapv:UnspecifiedMatching MONDO:0005262 central nervous system cyst skos:exactMatch mesh:D020863 semapv:UnspecifiedMatching MONDO:0005264 transient ischemic attack skos:exactMatch DOID:224 transient cerebral ischemia semapv:UnspecifiedMatching MONDO:0005264 transient ischemic attack skos:exactMatch NCIT:C50781 Transient Ischemic Attack semapv:UnspecifiedMatching MONDO:0005264 transient ischemic attack skos:exactMatch SCTID:266257000 semapv:UnspecifiedMatching MONDO:0005264 transient ischemic attack skos:exactMatch mesh:D002546 semapv:UnspecifiedMatching MONDO:0005265 inflammatory bowel disease skos:exactMatch DOID:0050589 inflammatory bowel disease semapv:UnspecifiedMatching MONDO:0005265 inflammatory bowel disease skos:exactMatch NCIT:C3138 Inflammatory Bowel Disease semapv:UnspecifiedMatching MONDO:0005265 inflammatory bowel disease skos:exactMatch OMIMPS:266600 semapv:UnspecifiedMatching MONDO:0005265 inflammatory bowel disease skos:exactMatch SCTID:24526004 semapv:UnspecifiedMatching MONDO:0005265 inflammatory bowel disease skos:exactMatch UMLS:C0021390 semapv:UnspecifiedMatching MONDO:0005265 inflammatory bowel disease skos:exactMatch mesh:D015212 semapv:UnspecifiedMatching MONDO:0005266 diabetic retinopathy skos:exactMatch DOID:8947 diabetic retinopathy semapv:UnspecifiedMatching MONDO:0005266 diabetic retinopathy skos:exactMatch NCIT:C34538 Diabetic Retinopathy semapv:UnspecifiedMatching MONDO:0005266 diabetic retinopathy skos:exactMatch SCTID:4855003 semapv:UnspecifiedMatching MONDO:0005266 diabetic retinopathy skos:exactMatch UMLS:C0011884 semapv:UnspecifiedMatching MONDO:0005266 diabetic retinopathy skos:exactMatch mesh:D003930 semapv:UnspecifiedMatching MONDO:0005267 heart disorder skos:exactMatch DOID:114 heart disease semapv:UnspecifiedMatching MONDO:0005267 heart disorder skos:exactMatch NCIT:C3079 Heart Disorder semapv:UnspecifiedMatching MONDO:0005267 heart disorder skos:exactMatch SCTID:56265001 semapv:UnspecifiedMatching MONDO:0005267 heart disorder skos:exactMatch UMLS:C0018799 semapv:UnspecifiedMatching MONDO:0005267 heart disorder skos:exactMatch mesh:D006331 semapv:UnspecifiedMatching MONDO:0005269 carotid artery disorder skos:exactMatch DOID:3407 carotid artery disease semapv:UnspecifiedMatching MONDO:0005269 carotid artery disorder skos:exactMatch NCIT:C84476 Carotid Artery Disorder semapv:UnspecifiedMatching MONDO:0005269 carotid artery disorder skos:exactMatch SCTID:371160000 semapv:UnspecifiedMatching MONDO:0005269 carotid artery disorder skos:exactMatch UMLS:C0007273 semapv:UnspecifiedMatching MONDO:0005269 carotid artery disorder skos:exactMatch mesh:D002340 semapv:UnspecifiedMatching MONDO:0005271 allergic disease skos:exactMatch DOID:1205 allergic disease semapv:UnspecifiedMatching MONDO:0005271 allergic disease skos:exactMatch NCIT:C114476 Allergic Reaction semapv:UnspecifiedMatching MONDO:0005271 allergic disease skos:exactMatch SCTID:609328004 semapv:UnspecifiedMatching MONDO:0005271 allergic disease skos:exactMatch UMLS:C0020517 semapv:UnspecifiedMatching MONDO:0005271 allergic disease skos:exactMatch mesh:D006967 semapv:UnspecifiedMatching MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch NCIT:C2872 Refractory Anemia semapv:UnspecifiedMatching MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch NCIT:C82591 Myelodysplastic Syndrome, Not Otherwise Specified with Single Lineage Dysplasia semapv:UnspecifiedMatching MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch Orphanet:98826 Refractory anemia semapv:UnspecifiedMatching MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch SCTID:1153345005 semapv:UnspecifiedMatching MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch UMLS:C2826318 semapv:UnspecifiedMatching MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch mesh:D000753 semapv:UnspecifiedMatching MONDO:0005275 lung disorder skos:exactMatch DOID:850 lung disease semapv:UnspecifiedMatching MONDO:0005275 lung disorder skos:exactMatch NCIT:C3198 Lung Disorder semapv:UnspecifiedMatching MONDO:0005275 lung disorder skos:exactMatch SCTID:19829001 semapv:UnspecifiedMatching MONDO:0005275 lung disorder skos:exactMatch mesh:D008171 semapv:UnspecifiedMatching MONDO:0005276 dental caries skos:exactMatch DOID:216 dental caries semapv:UnspecifiedMatching MONDO:0005276 dental caries skos:exactMatch ICD10CM:K02 Dental caries semapv:UnspecifiedMatching MONDO:0005276 dental caries skos:exactMatch SCTID:80967001 semapv:UnspecifiedMatching MONDO:0005276 dental caries skos:exactMatch UMLS:C0011334 semapv:UnspecifiedMatching MONDO:0005276 dental caries skos:exactMatch mesh:D003731 semapv:UnspecifiedMatching MONDO:0005277 migraine disorder skos:exactMatch DOID:6364 migraine semapv:UnspecifiedMatching MONDO:0005277 migraine disorder skos:exactMatch NCIT:C89715 Migraine semapv:UnspecifiedMatching MONDO:0005277 migraine disorder skos:exactMatch mesh:D008881 semapv:UnspecifiedMatching MONDO:0005278 serous adenocarcinoma skos:exactMatch DOID:3114 serous cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0005278 serous adenocarcinoma skos:exactMatch NCIT:C40101 Serous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005279 pulmonary embolism skos:exactMatch DOID:9477 pulmonary embolism semapv:UnspecifiedMatching MONDO:0005279 pulmonary embolism skos:exactMatch NCIT:C50713 Pulmonary Embolism semapv:UnspecifiedMatching MONDO:0005279 pulmonary embolism skos:exactMatch SCTID:59282003 semapv:UnspecifiedMatching MONDO:0005279 pulmonary embolism skos:exactMatch UMLS:C0034065 semapv:UnspecifiedMatching MONDO:0005279 pulmonary embolism skos:exactMatch mesh:D011655 semapv:UnspecifiedMatching MONDO:0005280 prostatitis skos:exactMatch DOID:14654 prostatitis semapv:UnspecifiedMatching MONDO:0005280 prostatitis skos:exactMatch NCIT:C26866 Prostatitis semapv:UnspecifiedMatching MONDO:0005280 prostatitis skos:exactMatch SCTID:9713002 semapv:UnspecifiedMatching MONDO:0005280 prostatitis skos:exactMatch UMLS:C0033581 semapv:UnspecifiedMatching MONDO:0005280 prostatitis skos:exactMatch mesh:D011472 semapv:UnspecifiedMatching MONDO:0005281 gallbladder disorder skos:exactMatch DOID:0060262 gallbladder disease semapv:UnspecifiedMatching MONDO:0005281 gallbladder disorder skos:exactMatch ICD10CM:K82 Other diseases of gallbladder semapv:UnspecifiedMatching MONDO:0005281 gallbladder disorder skos:exactMatch NCIT:C34631 Gallbladder Disorder semapv:UnspecifiedMatching MONDO:0005281 gallbladder disorder skos:exactMatch SCTID:39621005 semapv:UnspecifiedMatching MONDO:0005281 gallbladder disorder skos:exactMatch UMLS:C0016977 semapv:UnspecifiedMatching MONDO:0005281 gallbladder disorder skos:exactMatch mesh:D005705 semapv:UnspecifiedMatching MONDO:0005282 cutaneous lupus erythematosus skos:exactMatch DOID:0050169 cutaneous lupus erythematosus semapv:UnspecifiedMatching MONDO:0005282 cutaneous lupus erythematosus skos:exactMatch NCIT:C26819 Cutaneous Lupus Erythematosus semapv:UnspecifiedMatching MONDO:0005282 cutaneous lupus erythematosus skos:exactMatch SCTID:7119001 semapv:UnspecifiedMatching MONDO:0005282 cutaneous lupus erythematosus skos:exactMatch UMLS:C0024137 semapv:UnspecifiedMatching MONDO:0005282 cutaneous lupus erythematosus skos:exactMatch mesh:D008178 semapv:UnspecifiedMatching MONDO:0005283 retinal disorder skos:exactMatch DOID:5679 retinal disease semapv:UnspecifiedMatching MONDO:0005283 retinal disorder skos:exactMatch NCIT:C26875 Retinal Disorder semapv:UnspecifiedMatching MONDO:0005283 retinal disorder skos:exactMatch NCIT:C62601 Retinopathy semapv:UnspecifiedMatching MONDO:0005283 retinal disorder skos:exactMatch SCTID:29555009 semapv:UnspecifiedMatching MONDO:0005283 retinal disorder skos:exactMatch UMLS:C0035309 semapv:UnspecifiedMatching MONDO:0005283 retinal disorder skos:exactMatch mesh:D012164 semapv:UnspecifiedMatching MONDO:0005284 chronic progressive multiple sclerosis skos:exactMatch SCTID:230373008 semapv:UnspecifiedMatching MONDO:0005284 chronic progressive multiple sclerosis skos:exactMatch UMLS:C0393665 semapv:UnspecifiedMatching MONDO:0005284 chronic progressive multiple sclerosis skos:exactMatch mesh:D020528 semapv:UnspecifiedMatching MONDO:0005286 palatal neoplasm skos:exactMatch NCIT:C4402 Palate Neoplasm semapv:UnspecifiedMatching MONDO:0005286 palatal neoplasm skos:exactMatch SCTID:126805009 semapv:UnspecifiedMatching MONDO:0005286 palatal neoplasm skos:exactMatch UMLS:C0030215 semapv:UnspecifiedMatching MONDO:0005286 palatal neoplasm skos:exactMatch mesh:D010157 semapv:UnspecifiedMatching MONDO:0005287 developmental disability skos:exactMatch mesh:D002658 semapv:UnspecifiedMatching MONDO:0005288 intestinal polyp skos:exactMatch SCTID:254588001 semapv:UnspecifiedMatching MONDO:0005288 intestinal polyp skos:exactMatch mesh:D007417 semapv:UnspecifiedMatching MONDO:0005289 paranasal sinus neoplasm skos:exactMatch DOID:1350 paranasal sinus benign neoplasm semapv:UnspecifiedMatching MONDO:0005289 paranasal sinus neoplasm skos:exactMatch NCIT:C7488 Paranasal Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0005289 paranasal sinus neoplasm skos:exactMatch SCTID:126675008 semapv:UnspecifiedMatching MONDO:0005289 paranasal sinus neoplasm skos:exactMatch UMLS:C0030470 semapv:UnspecifiedMatching MONDO:0005290 obsolete rhabdomyolysis skos:exactMatch NCIT:C118318 Rhabdomyolysis semapv:UnspecifiedMatching MONDO:0005290 obsolete rhabdomyolysis skos:exactMatch SCTID:240131006 semapv:UnspecifiedMatching MONDO:0005290 obsolete rhabdomyolysis skos:exactMatch mesh:D012206 semapv:UnspecifiedMatching MONDO:0005291 brain aneurysm skos:exactMatch DOID:10941 intracranial aneurysm semapv:UnspecifiedMatching MONDO:0005291 brain aneurysm skos:exactMatch UMLS:C0751003 semapv:UnspecifiedMatching MONDO:0005291 brain aneurysm skos:exactMatch mesh:D002532 semapv:UnspecifiedMatching MONDO:0005292 colitis skos:exactMatch DOID:0060180 colitis semapv:UnspecifiedMatching MONDO:0005292 colitis skos:exactMatch NCIT:C26723 Colitis semapv:UnspecifiedMatching MONDO:0005292 colitis skos:exactMatch SCTID:64226004 semapv:UnspecifiedMatching MONDO:0005292 colitis skos:exactMatch UMLS:C0009319 semapv:UnspecifiedMatching MONDO:0005292 colitis skos:exactMatch mesh:D003092 semapv:UnspecifiedMatching MONDO:0005293 flatfoot skos:exactMatch NCIT:C34616 Flat Foot semapv:UnspecifiedMatching MONDO:0005293 flatfoot skos:exactMatch SCTID:53226007 semapv:UnspecifiedMatching MONDO:0005293 flatfoot skos:exactMatch mesh:D005413 semapv:UnspecifiedMatching MONDO:0005294 peripheral vascular disease skos:exactMatch DOID:341 peripheral vascular disease semapv:UnspecifiedMatching MONDO:0005294 peripheral vascular disease skos:exactMatch NCIT:C35136 Peripheral Vascular Disorder semapv:UnspecifiedMatching MONDO:0005294 peripheral vascular disease skos:exactMatch mesh:D016491 semapv:UnspecifiedMatching MONDO:0005295 intermittent vascular claudication skos:exactMatch DOID:3669 intermittent claudication semapv:UnspecifiedMatching MONDO:0005295 intermittent vascular claudication skos:exactMatch SCTID:63491006 semapv:UnspecifiedMatching MONDO:0005295 intermittent vascular claudication skos:exactMatch UMLS:C0021775 semapv:UnspecifiedMatching MONDO:0005295 intermittent vascular claudication skos:exactMatch mesh:D007383 semapv:UnspecifiedMatching MONDO:0005296 sleep apnea syndrome skos:exactMatch DOID:0050847 sleep apnea semapv:UnspecifiedMatching MONDO:0005296 sleep apnea syndrome skos:exactMatch ICD10CM:G47.3 Sleep apnea semapv:UnspecifiedMatching MONDO:0005296 sleep apnea syndrome skos:exactMatch NCIT:C148023 Sleep-Disordered Breathing semapv:UnspecifiedMatching MONDO:0005296 sleep apnea syndrome skos:exactMatch SCTID:111489007 semapv:UnspecifiedMatching MONDO:0005296 sleep apnea syndrome skos:exactMatch SCTID:73430006 semapv:UnspecifiedMatching MONDO:0005296 sleep apnea syndrome skos:exactMatch mesh:D012891 semapv:UnspecifiedMatching MONDO:0005297 urethritis skos:exactMatch DOID:1343 urethritis semapv:UnspecifiedMatching MONDO:0005297 urethritis skos:exactMatch NCIT:C26904 Urethritis semapv:UnspecifiedMatching MONDO:0005297 urethritis skos:exactMatch SCTID:84619001 semapv:UnspecifiedMatching MONDO:0005297 urethritis skos:exactMatch mesh:D014526 semapv:UnspecifiedMatching MONDO:0005298 osteoporosis skos:exactMatch DOID:11476 osteoporosis semapv:UnspecifiedMatching MONDO:0005298 osteoporosis skos:exactMatch ICD10CM:M81 Osteoporosis without current pathological fracture semapv:UnspecifiedMatching MONDO:0005298 osteoporosis skos:exactMatch NCIT:C3298 Osteoporosis semapv:UnspecifiedMatching MONDO:0005298 osteoporosis skos:exactMatch OMIM:166710 osteoporosis semapv:UnspecifiedMatching MONDO:0005298 osteoporosis skos:exactMatch SCTID:64859006 semapv:UnspecifiedMatching MONDO:0005298 osteoporosis skos:exactMatch mesh:D010024 semapv:UnspecifiedMatching MONDO:0005299 brain ischemia skos:exactMatch DOID:2316 brain ischemia semapv:UnspecifiedMatching MONDO:0005299 brain ischemia skos:exactMatch NCIT:C78394 Cerebrovascular Ischemia semapv:UnspecifiedMatching MONDO:0005299 brain ischemia skos:exactMatch SCTID:389100007 semapv:UnspecifiedMatching MONDO:0005299 brain ischemia skos:exactMatch UMLS:C0917798 semapv:UnspecifiedMatching MONDO:0005299 brain ischemia skos:exactMatch mesh:D002545 semapv:UnspecifiedMatching MONDO:0005300 chronic kidney disease skos:exactMatch DOID:784 chronic kidney disease semapv:UnspecifiedMatching MONDO:0005300 chronic kidney disease skos:exactMatch ICD10CM:N18.9 Chronic kidney disease, unspecified semapv:UnspecifiedMatching MONDO:0005300 chronic kidney disease skos:exactMatch NCIT:C80078 Chronic Kidney Disease semapv:UnspecifiedMatching MONDO:0005300 chronic kidney disease skos:exactMatch SCTID:709044004 semapv:UnspecifiedMatching MONDO:0005300 chronic kidney disease skos:exactMatch UMLS:C1561643 semapv:UnspecifiedMatching MONDO:0005300 chronic kidney disease skos:exactMatch mesh:D007676 semapv:UnspecifiedMatching MONDO:0005301 multiple sclerosis skos:exactMatch DOID:2377 multiple sclerosis semapv:UnspecifiedMatching MONDO:0005301 multiple sclerosis skos:exactMatch ICD10CM:G35 Multiple sclerosis semapv:UnspecifiedMatching MONDO:0005301 multiple sclerosis skos:exactMatch NCIT:C3243 Multiple Sclerosis semapv:UnspecifiedMatching MONDO:0005301 multiple sclerosis skos:exactMatch SCTID:24700007 semapv:UnspecifiedMatching MONDO:0005301 multiple sclerosis skos:exactMatch UMLS:C0026769 semapv:UnspecifiedMatching MONDO:0005301 multiple sclerosis skos:exactMatch mesh:D009103 semapv:UnspecifiedMatching MONDO:0005302 attention deficit hyperactivity disorder, inattentive type skos:exactMatch DOID:1094 attention deficit hyperactivity disorder semapv:UnspecifiedMatching MONDO:0005302 attention deficit hyperactivity disorder, inattentive type skos:exactMatch NCIT:C35092 Attention Deficit Hyperactivity Disorder, Inattentive Type semapv:UnspecifiedMatching MONDO:0005302 attention deficit hyperactivity disorder, inattentive type skos:exactMatch SCTID:406506008 semapv:UnspecifiedMatching MONDO:0005302 attention deficit hyperactivity disorder, inattentive type skos:exactMatch mesh:D001289 semapv:UnspecifiedMatching MONDO:0005303 drug dependence skos:exactMatch DOID:9974 drug dependence semapv:UnspecifiedMatching MONDO:0005303 drug dependence skos:exactMatch NCIT:C3894 Drug Dependence semapv:UnspecifiedMatching MONDO:0005303 drug dependence skos:exactMatch SCTID:191816009 semapv:UnspecifiedMatching MONDO:0005304 biliary tract neoplasm skos:exactMatch DOID:0050625 biliary tract benign neoplasm semapv:UnspecifiedMatching MONDO:0005304 biliary tract neoplasm skos:exactMatch SCTID:126853008 semapv:UnspecifiedMatching MONDO:0005306 ankylosing spondylitis skos:exactMatch DOID:7147 ankylosing spondylitis semapv:UnspecifiedMatching MONDO:0005306 ankylosing spondylitis skos:exactMatch ICD10CM:M45 Ankylosing spondylitis semapv:UnspecifiedMatching MONDO:0005306 ankylosing spondylitis skos:exactMatch NCIT:C84564 Ankylosing Spondylitis semapv:UnspecifiedMatching MONDO:0005306 ankylosing spondylitis skos:exactMatch SCTID:9631008 semapv:UnspecifiedMatching MONDO:0005306 ankylosing spondylitis skos:exactMatch mesh:D013167 semapv:UnspecifiedMatching MONDO:0005307 obsolete contracture skos:exactMatch mesh:D003286 semapv:UnspecifiedMatching MONDO:0005308 ciliopathy skos:exactMatch DOID:0060340 ciliopathy semapv:UnspecifiedMatching MONDO:0005308 ciliopathy skos:exactMatch Orphanet:363250 Ciliopathy semapv:UnspecifiedMatching MONDO:0005308 ciliopathy skos:exactMatch UMLS:C4277690 semapv:UnspecifiedMatching MONDO:0005309 spinal fracture skos:exactMatch SCTID:50448004 semapv:UnspecifiedMatching MONDO:0005309 spinal fracture skos:exactMatch mesh:D016103 semapv:UnspecifiedMatching MONDO:0005310 atrial flutter skos:exactMatch NCIT:C51224 Atrial Flutter semapv:UnspecifiedMatching MONDO:0005310 atrial flutter skos:exactMatch SCTID:5370000 semapv:UnspecifiedMatching MONDO:0005310 atrial flutter skos:exactMatch mesh:D001282 semapv:UnspecifiedMatching MONDO:0005311 atherosclerosis skos:exactMatch DOID:1936 atherosclerosis semapv:UnspecifiedMatching MONDO:0005311 atherosclerosis skos:exactMatch ICD10CM:I70 Atherosclerosis semapv:UnspecifiedMatching MONDO:0005311 atherosclerosis skos:exactMatch NCIT:C35768 Atherosclerosis semapv:UnspecifiedMatching MONDO:0005311 atherosclerosis skos:exactMatch NCIT:C35771 Atherosclerotic Cardiovascular Disease semapv:UnspecifiedMatching MONDO:0005311 atherosclerosis skos:exactMatch SCTID:441574008 semapv:UnspecifiedMatching MONDO:0005311 atherosclerosis skos:exactMatch mesh:D050197 semapv:UnspecifiedMatching MONDO:0005312 pouchitis skos:exactMatch ICD10CM:K91.850 Pouchitis semapv:UnspecifiedMatching MONDO:0005312 pouchitis skos:exactMatch Orphanet:217067 Pouchitis semapv:UnspecifiedMatching MONDO:0005312 pouchitis skos:exactMatch UMLS:C0376620 semapv:UnspecifiedMatching MONDO:0005312 pouchitis skos:exactMatch mesh:D019449 semapv:UnspecifiedMatching MONDO:0005313 necrotizing enterocolitis skos:exactMatch NCIT:C84915 Necrotizing Enterocolitis semapv:UnspecifiedMatching MONDO:0005313 necrotizing enterocolitis skos:exactMatch Orphanet:391673 Necrotizing enterocolitis semapv:UnspecifiedMatching MONDO:0005313 necrotizing enterocolitis skos:exactMatch SCTID:2707005 semapv:UnspecifiedMatching MONDO:0005313 necrotizing enterocolitis skos:exactMatch UMLS:C0520459 semapv:UnspecifiedMatching MONDO:0005313 necrotizing enterocolitis skos:exactMatch mesh:D020345 semapv:UnspecifiedMatching MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch DOID:2378 relapsing-remitting multiple sclerosis semapv:UnspecifiedMatching MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch NCIT:C165675 Relapsing-Remitting Multiple Sclerosis semapv:UnspecifiedMatching MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch SCTID:426373005 semapv:UnspecifiedMatching MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch UMLS:C0751967 semapv:UnspecifiedMatching MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch mesh:D020529 semapv:UnspecifiedMatching MONDO:0005315 bone fracture skos:exactMatch NCIT:C3046 Fracture semapv:UnspecifiedMatching MONDO:0005315 bone fracture skos:exactMatch SCTID:125605004 semapv:UnspecifiedMatching MONDO:0005315 bone fracture skos:exactMatch mesh:D050723 semapv:UnspecifiedMatching MONDO:0005316 bacterial vaginosis skos:exactMatch DOID:3385 bacterial vaginosis semapv:UnspecifiedMatching MONDO:0005316 bacterial vaginosis skos:exactMatch NCIT:C116973 Bacterial Vaginosis semapv:UnspecifiedMatching MONDO:0005316 bacterial vaginosis skos:exactMatch SCTID:419760006 semapv:UnspecifiedMatching MONDO:0005316 bacterial vaginosis skos:exactMatch UMLS:C0085166 semapv:UnspecifiedMatching MONDO:0005316 bacterial vaginosis skos:exactMatch mesh:D016585 semapv:UnspecifiedMatching MONDO:0005318 canker sore skos:exactMatch NCIT:C62546 Canker Sore semapv:UnspecifiedMatching MONDO:0005318 canker sore skos:exactMatch SCTID:427617000 semapv:UnspecifiedMatching MONDO:0005318 canker sore skos:exactMatch mesh:D013281 semapv:UnspecifiedMatching MONDO:0005319 humerus fracture skos:exactMatch SCTID:66308002 semapv:UnspecifiedMatching MONDO:0005319 humerus fracture skos:exactMatch mesh:D006810 semapv:UnspecifiedMatching MONDO:0005320 tibia fracture skos:exactMatch SCTID:31978002 semapv:UnspecifiedMatching MONDO:0005320 tibia fracture skos:exactMatch mesh:D013978 semapv:UnspecifiedMatching MONDO:0005321 Fuchs' endothelial dystrophy skos:exactMatch DOID:11555 Fuchs' endothelial dystrophy semapv:UnspecifiedMatching MONDO:0005321 Fuchs' endothelial dystrophy skos:exactMatch NCIT:C84721 Fuchs Endothelial Dystrophy semapv:UnspecifiedMatching MONDO:0005321 Fuchs' endothelial dystrophy skos:exactMatch OMIMPS:136800 semapv:UnspecifiedMatching MONDO:0005321 Fuchs' endothelial dystrophy skos:exactMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:UnspecifiedMatching MONDO:0005321 Fuchs' endothelial dystrophy skos:exactMatch SCTID:193839007 semapv:UnspecifiedMatching MONDO:0005321 Fuchs' endothelial dystrophy skos:exactMatch mesh:D005642 semapv:UnspecifiedMatching MONDO:0005322 ulna fracture skos:exactMatch SCTID:54556006 semapv:UnspecifiedMatching MONDO:0005322 ulna fracture skos:exactMatch mesh:D014458 semapv:UnspecifiedMatching MONDO:0005323 bacterial sexually transmitted disease skos:exactMatch UMLS:C0036917 semapv:UnspecifiedMatching MONDO:0005323 bacterial sexually transmitted disease skos:exactMatch mesh:D015231 semapv:UnspecifiedMatching MONDO:0005324 seasonal allergic rhinitis skos:exactMatch NCIT:C92188 Seasonal Allergic Rhinitis semapv:UnspecifiedMatching MONDO:0005324 seasonal allergic rhinitis skos:exactMatch SCTID:367498001 semapv:UnspecifiedMatching MONDO:0005324 seasonal allergic rhinitis skos:exactMatch mesh:D006255 semapv:UnspecifiedMatching MONDO:0005325 radius fracture skos:exactMatch SCTID:12676007 semapv:UnspecifiedMatching MONDO:0005325 radius fracture skos:exactMatch mesh:D011885 semapv:UnspecifiedMatching MONDO:0005326 sunburn skos:exactMatch ICD10CM:L55 Sunburn semapv:UnspecifiedMatching MONDO:0005326 sunburn skos:exactMatch SCTID:403194002 semapv:UnspecifiedMatching MONDO:0005326 sunburn skos:exactMatch mesh:D013471 semapv:UnspecifiedMatching MONDO:0005327 hip fracture skos:exactMatch SCTID:263225007 semapv:UnspecifiedMatching MONDO:0005327 hip fracture skos:exactMatch mesh:D006620 semapv:UnspecifiedMatching MONDO:0005328 eye disorder skos:exactMatch DOID:1242 globe disease semapv:UnspecifiedMatching MONDO:0005328 eye disorder skos:exactMatch DOID:5614 eye disease semapv:UnspecifiedMatching MONDO:0005328 eye disorder skos:exactMatch NCIT:C26767 Eye Disorder semapv:UnspecifiedMatching MONDO:0005328 eye disorder skos:exactMatch SCTID:371405004 semapv:UnspecifiedMatching MONDO:0005328 eye disorder skos:exactMatch UMLS:C4316870 semapv:UnspecifiedMatching MONDO:0005328 eye disorder skos:exactMatch mesh:D005128 semapv:UnspecifiedMatching MONDO:0005333 hyperthyroxinemia skos:exactMatch DOID:2855 hyperthyroxinemia semapv:UnspecifiedMatching MONDO:0005333 hyperthyroxinemia skos:exactMatch UMLS:C0020551 semapv:UnspecifiedMatching MONDO:0005333 hyperthyroxinemia skos:exactMatch mesh:D006981 semapv:UnspecifiedMatching MONDO:0005334 hereditary nephritis skos:exactMatch SCTID:399340005 semapv:UnspecifiedMatching MONDO:0005334 hereditary nephritis skos:exactMatch mesh:D009394 semapv:UnspecifiedMatching MONDO:0005335 colorectal neoplasm skos:exactMatch NCIT:C2956 Colorectal Neoplasm semapv:UnspecifiedMatching MONDO:0005335 colorectal neoplasm skos:exactMatch mesh:D015179 semapv:UnspecifiedMatching MONDO:0005336 myopathy skos:exactMatch DOID:423 myopathy semapv:UnspecifiedMatching MONDO:0005336 myopathy skos:exactMatch NCIT:C101216 Myopathy semapv:UnspecifiedMatching MONDO:0005336 myopathy skos:exactMatch SCTID:129565002 semapv:UnspecifiedMatching MONDO:0005336 myopathy skos:exactMatch UMLS:C0026848 semapv:UnspecifiedMatching MONDO:0005338 open-angle glaucoma skos:exactMatch DOID:1067 open-angle glaucoma semapv:UnspecifiedMatching MONDO:0005338 open-angle glaucoma skos:exactMatch NCIT:C34641 Open Angle Glaucoma semapv:UnspecifiedMatching MONDO:0005338 open-angle glaucoma skos:exactMatch SCTID:46168003 semapv:UnspecifiedMatching MONDO:0005338 open-angle glaucoma skos:exactMatch SCTID:84494001 semapv:UnspecifiedMatching MONDO:0005338 open-angle glaucoma skos:exactMatch UMLS:C0017612 semapv:UnspecifiedMatching MONDO:0005338 open-angle glaucoma skos:exactMatch mesh:D005902 semapv:UnspecifiedMatching MONDO:0005339 androgenetic alopecia skos:exactMatch DOID:0050801 androgenic alopecia semapv:UnspecifiedMatching MONDO:0005339 androgenetic alopecia skos:exactMatch SCTID:87872006 semapv:UnspecifiedMatching MONDO:0005340 alopecia areata skos:exactMatch DOID:986 alopecia areata semapv:UnspecifiedMatching MONDO:0005340 alopecia areata skos:exactMatch ICD10CM:L63 Alopecia areata semapv:UnspecifiedMatching MONDO:0005340 alopecia areata skos:exactMatch SCTID:68225006 semapv:UnspecifiedMatching MONDO:0005340 alopecia areata skos:exactMatch UMLS:C0002171 semapv:UnspecifiedMatching MONDO:0005340 alopecia areata skos:exactMatch mesh:D000506 semapv:UnspecifiedMatching MONDO:0005341 skin basal cell carcinoma skos:exactMatch DOID:2513 basal cell carcinoma semapv:UnspecifiedMatching MONDO:0005341 skin basal cell carcinoma skos:exactMatch NCIT:C2921 Skin Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005341 skin basal cell carcinoma skos:exactMatch SCTID:254701007 semapv:UnspecifiedMatching MONDO:0005341 skin basal cell carcinoma skos:exactMatch UMLS:C4721806 semapv:UnspecifiedMatching MONDO:0005342 IgA glomerulonephritis skos:exactMatch DOID:2986 IgA glomerulonephritis semapv:UnspecifiedMatching MONDO:0005342 IgA glomerulonephritis skos:exactMatch NCIT:C34643 IgA Nephropathy semapv:UnspecifiedMatching MONDO:0005342 IgA glomerulonephritis skos:exactMatch OMIMPS:161950 semapv:UnspecifiedMatching MONDO:0005342 IgA glomerulonephritis skos:exactMatch SCTID:68779003 semapv:UnspecifiedMatching MONDO:0005342 IgA glomerulonephritis skos:exactMatch UMLS:C0017661 semapv:UnspecifiedMatching MONDO:0005342 IgA glomerulonephritis skos:exactMatch mesh:D005922 semapv:UnspecifiedMatching MONDO:0005344 hepatitis B virus infection skos:exactMatch DOID:2043 hepatitis B semapv:UnspecifiedMatching MONDO:0005344 hepatitis B virus infection skos:exactMatch NCIT:C3097 Hepatitis B Infection semapv:UnspecifiedMatching MONDO:0005344 hepatitis B virus infection skos:exactMatch SCTID:66071002 semapv:UnspecifiedMatching MONDO:0005344 hepatitis B virus infection skos:exactMatch UMLS:C0019163 semapv:UnspecifiedMatching MONDO:0005344 hepatitis B virus infection skos:exactMatch mesh:D006509 semapv:UnspecifiedMatching MONDO:0005345 hypospadias skos:exactMatch DOID:10892 hypospadias semapv:UnspecifiedMatching MONDO:0005345 hypospadias skos:exactMatch NCIT:C40341 Hypospadias semapv:UnspecifiedMatching MONDO:0005345 hypospadias skos:exactMatch OMIMPS:300633 semapv:UnspecifiedMatching MONDO:0005345 hypospadias skos:exactMatch SCTID:416010008 semapv:UnspecifiedMatching MONDO:0005345 hypospadias skos:exactMatch UMLS:C0848558 semapv:UnspecifiedMatching MONDO:0005345 hypospadias skos:exactMatch mesh:D007021 semapv:UnspecifiedMatching MONDO:0005346 gallstones skos:exactMatch SCTID:235919008 semapv:UnspecifiedMatching MONDO:0005346 gallstones skos:exactMatch mesh:D042882 semapv:UnspecifiedMatching MONDO:0005347 hypertriglyceridemia skos:exactMatch SCTID:302870006 semapv:UnspecifiedMatching MONDO:0005347 hypertriglyceridemia skos:exactMatch UMLS:C0813230 semapv:UnspecifiedMatching MONDO:0005347 hypertriglyceridemia skos:exactMatch mesh:D015228 semapv:UnspecifiedMatching MONDO:0005348 keloid skos:exactMatch NCIT:C3145 Keloid semapv:UnspecifiedMatching MONDO:0005348 keloid skos:exactMatch SCTID:33659008 semapv:UnspecifiedMatching MONDO:0005348 keloid skos:exactMatch mesh:D007627 semapv:UnspecifiedMatching MONDO:0005349 otosclerosis skos:exactMatch DOID:12185 otosclerosis semapv:UnspecifiedMatching MONDO:0005349 otosclerosis skos:exactMatch NCIT:C185242 Otosclerosis semapv:UnspecifiedMatching MONDO:0005349 otosclerosis skos:exactMatch OMIMPS:166800 semapv:UnspecifiedMatching MONDO:0005349 otosclerosis skos:exactMatch SCTID:11543004 semapv:UnspecifiedMatching MONDO:0005349 otosclerosis skos:exactMatch UMLS:C0029899 semapv:UnspecifiedMatching MONDO:0005349 otosclerosis skos:exactMatch mesh:D010040 semapv:UnspecifiedMatching MONDO:0005350 abdominal aortic aneurysm skos:exactMatch DOID:7693 abdominal aortic aneurysm semapv:UnspecifiedMatching MONDO:0005350 abdominal aortic aneurysm skos:exactMatch SCTID:233985008 semapv:UnspecifiedMatching MONDO:0005350 abdominal aortic aneurysm skos:exactMatch UMLS:C0162871 semapv:UnspecifiedMatching MONDO:0005350 abdominal aortic aneurysm skos:exactMatch mesh:D017544 semapv:UnspecifiedMatching MONDO:0005351 anorexia nervosa skos:exactMatch DOID:8689 anorexia nervosa semapv:UnspecifiedMatching MONDO:0005351 anorexia nervosa skos:exactMatch ICD10CM:F50.0 Anorexia nervosa semapv:UnspecifiedMatching MONDO:0005351 anorexia nervosa skos:exactMatch NCIT:C34387 Anorexia Nervosa semapv:UnspecifiedMatching MONDO:0005351 anorexia nervosa skos:exactMatch SCTID:56882008 semapv:UnspecifiedMatching MONDO:0005351 anorexia nervosa skos:exactMatch mesh:D000856 semapv:UnspecifiedMatching MONDO:0005352 conduct disorder skos:exactMatch DOID:12995 conduct disorder semapv:UnspecifiedMatching MONDO:0005352 conduct disorder skos:exactMatch NCIT:C89329 Conduct Disorder semapv:UnspecifiedMatching MONDO:0005352 conduct disorder skos:exactMatch SCTID:430909002 semapv:UnspecifiedMatching MONDO:0005352 conduct disorder skos:exactMatch mesh:D019955 semapv:UnspecifiedMatching MONDO:0005354 chronic hepatitis C virus infection skos:exactMatch mesh:D019698 semapv:UnspecifiedMatching MONDO:0005355 coronary restenosis skos:exactMatch DOID:4247 coronary restenosis semapv:UnspecifiedMatching MONDO:0005355 coronary restenosis skos:exactMatch UMLS:C0948480 semapv:UnspecifiedMatching MONDO:0005355 coronary restenosis skos:exactMatch mesh:D023903 semapv:UnspecifiedMatching MONDO:0005356 coronary vasospasm skos:exactMatch DOID:11840 coronary artery vasospasm semapv:UnspecifiedMatching MONDO:0005356 coronary vasospasm skos:exactMatch SCTID:23687008 semapv:UnspecifiedMatching MONDO:0005356 coronary vasospasm skos:exactMatch UMLS:C0010073 semapv:UnspecifiedMatching MONDO:0005356 coronary vasospasm skos:exactMatch mesh:D003329 semapv:UnspecifiedMatching MONDO:0005357 Creutzfeldt Jacob disease skos:exactMatch DOID:11949 Creutzfeldt-Jakob disease semapv:UnspecifiedMatching MONDO:0005357 Creutzfeldt Jacob disease skos:exactMatch NCIT:C26802 Creutzfeldt-Jakob Disease semapv:UnspecifiedMatching MONDO:0005357 Creutzfeldt Jacob disease skos:exactMatch SCTID:792004 semapv:UnspecifiedMatching MONDO:0005357 Creutzfeldt Jacob disease skos:exactMatch mesh:D007562 semapv:UnspecifiedMatching MONDO:0005358 Dengue hemorrhagic fever skos:exactMatch DOID:12206 dengue hemorrhagic fever semapv:UnspecifiedMatching MONDO:0005358 Dengue hemorrhagic fever skos:exactMatch ICD10CM:A91 Dengue hemorrhagic fever semapv:UnspecifiedMatching MONDO:0005358 Dengue hemorrhagic fever skos:exactMatch NCIT:C34683 Dengue Hemorrhagic Fever semapv:UnspecifiedMatching MONDO:0005358 Dengue hemorrhagic fever skos:exactMatch SCTID:20927009 semapv:UnspecifiedMatching MONDO:0005359 drug-induced liver injury skos:exactMatch SCTID:197352008 semapv:UnspecifiedMatching MONDO:0005359 drug-induced liver injury skos:exactMatch mesh:D056486 semapv:UnspecifiedMatching MONDO:0005361 eosinophilic esophagitis skos:exactMatch DOID:13922 eosinophilic esophagitis semapv:UnspecifiedMatching MONDO:0005361 eosinophilic esophagitis skos:exactMatch ICD10CM:K20.0 Eosinophilic esophagitis semapv:UnspecifiedMatching MONDO:0005361 eosinophilic esophagitis skos:exactMatch NCIT:C27105 Eosinophilic Esophagitis semapv:UnspecifiedMatching MONDO:0005361 eosinophilic esophagitis skos:exactMatch SCTID:235599003 semapv:UnspecifiedMatching MONDO:0005361 eosinophilic esophagitis skos:exactMatch UMLS:C0341106 semapv:UnspecifiedMatching MONDO:0005361 eosinophilic esophagitis skos:exactMatch mesh:D057765 semapv:UnspecifiedMatching MONDO:0005362 erectile dysfunction skos:exactMatch DOID:1875 impotence semapv:UnspecifiedMatching MONDO:0005362 erectile dysfunction skos:exactMatch NCIT:C34801 Male Erectile Disorder semapv:UnspecifiedMatching MONDO:0005362 erectile dysfunction skos:exactMatch SCTID:397803000 semapv:UnspecifiedMatching MONDO:0005362 erectile dysfunction skos:exactMatch mesh:D007172 semapv:UnspecifiedMatching MONDO:0005363 inherited focal segmental glomerulosclerosis skos:exactMatch OMIMPS:603278 semapv:UnspecifiedMatching MONDO:0005364 Graves disease skos:exactMatch DOID:12361 Graves' disease semapv:UnspecifiedMatching MONDO:0005364 Graves disease skos:exactMatch NCIT:C3071 Graves Disease semapv:UnspecifiedMatching MONDO:0005364 Graves disease skos:exactMatch SCTID:353295004 semapv:UnspecifiedMatching MONDO:0005364 Graves disease skos:exactMatch mesh:D006111 semapv:UnspecifiedMatching MONDO:0005365 hearing loss disorder skos:exactMatch ICD10CM:H90 Conductive and sensorineural hearing loss semapv:UnspecifiedMatching MONDO:0005365 hearing loss disorder skos:exactMatch NCIT:C35731 Hearing Loss semapv:UnspecifiedMatching MONDO:0005365 hearing loss disorder skos:exactMatch SCTID:15188001 semapv:UnspecifiedMatching MONDO:0005365 hearing loss disorder skos:exactMatch UMLS:C1384666 semapv:UnspecifiedMatching MONDO:0005365 hearing loss disorder skos:exactMatch mesh:D034381 semapv:UnspecifiedMatching MONDO:0005366 chronic hepatitis B virus infection skos:exactMatch UMLS:C0524909 semapv:UnspecifiedMatching MONDO:0005366 chronic hepatitis B virus infection skos:exactMatch mesh:D019694 semapv:UnspecifiedMatching MONDO:0005367 heroin dependence skos:exactMatch DOID:9976 heroin dependence semapv:UnspecifiedMatching MONDO:0005367 heroin dependence skos:exactMatch NCIT:C34694 Heroin Dependence semapv:UnspecifiedMatching MONDO:0005367 heroin dependence skos:exactMatch SCTID:231477003 semapv:UnspecifiedMatching MONDO:0005367 heroin dependence skos:exactMatch UMLS:C0019337 semapv:UnspecifiedMatching MONDO:0005367 heroin dependence skos:exactMatch mesh:D006556 semapv:UnspecifiedMatching MONDO:0005369 carcinoid tumor skos:exactMatch NCIT:C2915 Carcinoid Tumor semapv:UnspecifiedMatching MONDO:0005369 carcinoid tumor skos:exactMatch SCTID:443492008 semapv:UnspecifiedMatching MONDO:0005369 carcinoid tumor skos:exactMatch mesh:D002276 semapv:UnspecifiedMatching MONDO:0005371 mood disorder skos:exactMatch DOID:3324 mood disorder semapv:UnspecifiedMatching MONDO:0005371 mood disorder skos:exactMatch ICD10CM:F30-F39 Mood [affective] disorders (F30-F39) semapv:UnspecifiedMatching MONDO:0005371 mood disorder skos:exactMatch NCIT:C92200 Mood Disorder semapv:UnspecifiedMatching MONDO:0005371 mood disorder skos:exactMatch SCTID:46206005 semapv:UnspecifiedMatching MONDO:0005371 mood disorder skos:exactMatch UMLS:C0525045 semapv:UnspecifiedMatching MONDO:0005371 mood disorder skos:exactMatch mesh:D019964 semapv:UnspecifiedMatching MONDO:0005372 male infertility skos:exactMatch DOID:12336 male infertility semapv:UnspecifiedMatching MONDO:0005372 male infertility skos:exactMatch ICD10CM:N46 Male infertility semapv:UnspecifiedMatching MONDO:0005372 male infertility skos:exactMatch SCTID:2904007 semapv:UnspecifiedMatching MONDO:0005372 male infertility skos:exactMatch UMLS:C0021364 semapv:UnspecifiedMatching MONDO:0005372 male infertility skos:exactMatch mesh:D007248 semapv:UnspecifiedMatching MONDO:0005373 meningococcal infection skos:exactMatch ICD10CM:A39 Meningococcal infection semapv:UnspecifiedMatching MONDO:0005373 meningococcal infection skos:exactMatch SCTID:23511006 semapv:UnspecifiedMatching MONDO:0005373 meningococcal infection skos:exactMatch mesh:D008589 semapv:UnspecifiedMatching MONDO:0005374 bone marrow neoplasm skos:exactMatch DOID:4960 bone marrow cancer semapv:UnspecifiedMatching MONDO:0005374 bone marrow neoplasm skos:exactMatch NCIT:C35370 Bone Marrow Neoplasm semapv:UnspecifiedMatching MONDO:0005374 bone marrow neoplasm skos:exactMatch SCTID:414824005 semapv:UnspecifiedMatching MONDO:0005374 bone marrow neoplasm skos:exactMatch UMLS:C0282609 semapv:UnspecifiedMatching MONDO:0005374 bone marrow neoplasm skos:exactMatch mesh:D019046 semapv:UnspecifiedMatching MONDO:0005375 nasopharyngeal neoplasm skos:exactMatch NCIT:C3257 Nasopharyngeal Neoplasm semapv:UnspecifiedMatching MONDO:0005375 nasopharyngeal neoplasm skos:exactMatch SCTID:126680004 semapv:UnspecifiedMatching MONDO:0005375 nasopharyngeal neoplasm skos:exactMatch UMLS:C0027439 semapv:UnspecifiedMatching MONDO:0005375 nasopharyngeal neoplasm skos:exactMatch mesh:D009303 semapv:UnspecifiedMatching MONDO:0005376 membranous glomerulonephritis skos:exactMatch DOID:10976 membranous glomerulonephritis semapv:UnspecifiedMatching MONDO:0005376 membranous glomerulonephritis skos:exactMatch NCIT:C34645 Membranous Glomerulonephritis semapv:UnspecifiedMatching MONDO:0005376 membranous glomerulonephritis skos:exactMatch SCTID:77182004 semapv:UnspecifiedMatching MONDO:0005376 membranous glomerulonephritis skos:exactMatch UMLS:C0017665 semapv:UnspecifiedMatching MONDO:0005376 membranous glomerulonephritis skos:exactMatch mesh:D015433 semapv:UnspecifiedMatching MONDO:0005377 nephrotic syndrome skos:exactMatch DOID:1184 nephrotic syndrome semapv:UnspecifiedMatching MONDO:0005377 nephrotic syndrome skos:exactMatch NCIT:C34845 Nephrotic Syndrome semapv:UnspecifiedMatching MONDO:0005377 nephrotic syndrome skos:exactMatch SCTID:52254009 semapv:UnspecifiedMatching MONDO:0005377 nephrotic syndrome skos:exactMatch UMLS:C0027726 semapv:UnspecifiedMatching MONDO:0005377 nephrotic syndrome skos:exactMatch mesh:D009404 semapv:UnspecifiedMatching MONDO:0005379 neurotic disorder skos:exactMatch DOID:4964 neurotic disorder semapv:UnspecifiedMatching MONDO:0005379 neurotic disorder skos:exactMatch NCIT:C34848 Neurosis semapv:UnspecifiedMatching MONDO:0005379 neurotic disorder skos:exactMatch SCTID:111475002 semapv:UnspecifiedMatching MONDO:0005379 neurotic disorder skos:exactMatch mesh:D009497 semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch DOID:0080008 ischemic bone disease semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch DOID:10159 osteonecrosis semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch ICD10CM:M87 Osteonecrosis semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch NCIT:C34880 Bone Necrosis semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch NCIT:C35476 Aseptic Necrosis of Bone semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch Orphanet:399158 Osteonecrosis semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch SCTID:240196003 semapv:UnspecifiedMatching MONDO:0005380 osteonecrosis skos:exactMatch mesh:D010020 semapv:UnspecifiedMatching MONDO:0005381 bone disorder skos:exactMatch DOID:0080001 bone disease semapv:UnspecifiedMatching MONDO:0005381 bone disorder skos:exactMatch ICD10CM:M80-M85 Disorders of bone density and structure (M80-M85) semapv:UnspecifiedMatching MONDO:0005381 bone disorder skos:exactMatch SCTID:76069003 semapv:UnspecifiedMatching MONDO:0005381 bone disorder skos:exactMatch UMLS:C0005940 semapv:UnspecifiedMatching MONDO:0005381 bone disorder skos:exactMatch mesh:D001847 semapv:UnspecifiedMatching MONDO:0005382 bone Paget disease skos:exactMatch DOID:5408 Paget's disease of bone semapv:UnspecifiedMatching MONDO:0005382 bone Paget disease skos:exactMatch NCIT:C3292 Bone Paget Disease semapv:UnspecifiedMatching MONDO:0005382 bone Paget disease skos:exactMatch OMIMPS:167250 semapv:UnspecifiedMatching MONDO:0005382 bone Paget disease skos:exactMatch SCTID:2089002 semapv:UnspecifiedMatching MONDO:0005382 bone Paget disease skos:exactMatch UMLS:C0029401 semapv:UnspecifiedMatching MONDO:0005383 panic disorder skos:exactMatch DOID:594 panic disorder semapv:UnspecifiedMatching MONDO:0005383 panic disorder skos:exactMatch NCIT:C34890 Panic Disorder semapv:UnspecifiedMatching MONDO:0005383 panic disorder skos:exactMatch SCTID:371631005 semapv:UnspecifiedMatching MONDO:0005383 panic disorder skos:exactMatch UMLS:C0030319 semapv:UnspecifiedMatching MONDO:0005383 panic disorder skos:exactMatch mesh:D016584 semapv:UnspecifiedMatching MONDO:0005384 focal epilepsy skos:exactMatch DOID:2234 focal epilepsy semapv:UnspecifiedMatching MONDO:0005384 focal epilepsy skos:exactMatch NCIT:C122812 Partial Epilepsy semapv:UnspecifiedMatching MONDO:0005384 focal epilepsy skos:exactMatch SCTID:230381009 semapv:UnspecifiedMatching MONDO:0005384 focal epilepsy skos:exactMatch UMLS:C0014547 semapv:UnspecifiedMatching MONDO:0005384 focal epilepsy skos:exactMatch mesh:D004828 semapv:UnspecifiedMatching MONDO:0005385 vascular disorder skos:exactMatch DOID:178 vascular disease semapv:UnspecifiedMatching MONDO:0005385 vascular disorder skos:exactMatch ICD10CM:I00-I99 Diseases of the circulatory system (I00-I99) semapv:UnspecifiedMatching MONDO:0005385 vascular disorder skos:exactMatch ICD10CM:I70-I79 Diseases of arteries, arterioles and capillaries (I70-I79) semapv:UnspecifiedMatching MONDO:0005385 vascular disorder skos:exactMatch NCIT:C35117 Vascular Disorder semapv:UnspecifiedMatching MONDO:0005385 vascular disorder skos:exactMatch SCTID:27550009 semapv:UnspecifiedMatching MONDO:0005385 vascular disorder skos:exactMatch UMLS:C0042373 semapv:UnspecifiedMatching MONDO:0005385 vascular disorder skos:exactMatch mesh:D014652 semapv:UnspecifiedMatching MONDO:0005386 peripheral arterial disease skos:exactMatch DOID:0050830 peripheral artery disease semapv:UnspecifiedMatching MONDO:0005386 peripheral arterial disease skos:exactMatch NCIT:C84496 Peripheral Artery Disease semapv:UnspecifiedMatching MONDO:0005386 peripheral arterial disease skos:exactMatch SCTID:399957001 semapv:UnspecifiedMatching MONDO:0005386 peripheral arterial disease skos:exactMatch mesh:D058729 semapv:UnspecifiedMatching MONDO:0005387 primary ovarian failure skos:exactMatch DOID:5426 primary ovarian insufficiency semapv:UnspecifiedMatching MONDO:0005387 primary ovarian failure skos:exactMatch ICD10CM:E28.3 Primary ovarian failure semapv:UnspecifiedMatching MONDO:0005387 primary ovarian failure skos:exactMatch NCIT:C113352 Primary Ovarian Failure semapv:UnspecifiedMatching MONDO:0005387 primary ovarian failure skos:exactMatch SCTID:370999003 semapv:UnspecifiedMatching MONDO:0005387 primary ovarian failure skos:exactMatch SCTID:65846009 semapv:UnspecifiedMatching MONDO:0005387 primary ovarian failure skos:exactMatch UMLS:C0085215 semapv:UnspecifiedMatching MONDO:0005387 primary ovarian failure skos:exactMatch mesh:D016649 semapv:UnspecifiedMatching MONDO:0005388 primary biliary cholangitis skos:exactMatch DOID:12236 primary biliary cholangitis semapv:UnspecifiedMatching MONDO:0005388 primary biliary cholangitis skos:exactMatch NCIT:C27167 Primary Biliary Cirrhosis semapv:UnspecifiedMatching MONDO:0005388 primary biliary cholangitis skos:exactMatch OMIMPS:109720 semapv:UnspecifiedMatching MONDO:0005388 primary biliary cholangitis skos:exactMatch Orphanet:186 Primary biliary cholangitis semapv:UnspecifiedMatching MONDO:0005388 primary biliary cholangitis skos:exactMatch SCTID:31712002 semapv:UnspecifiedMatching MONDO:0005388 primary biliary cholangitis skos:exactMatch UMLS:C0008312 semapv:UnspecifiedMatching MONDO:0005388 primary biliary cholangitis skos:exactMatch mesh:D008105 semapv:UnspecifiedMatching MONDO:0005391 restless legs syndrome skos:exactMatch DOID:0050425 restless legs syndrome semapv:UnspecifiedMatching MONDO:0005391 restless legs syndrome skos:exactMatch ICD10CM:G25.81 Restless legs syndrome semapv:UnspecifiedMatching MONDO:0005391 restless legs syndrome skos:exactMatch NCIT:C84501 Restless Leg Syndrome semapv:UnspecifiedMatching MONDO:0005391 restless legs syndrome skos:exactMatch SCTID:32914008 semapv:UnspecifiedMatching MONDO:0005391 restless legs syndrome skos:exactMatch UMLS:C0035258 semapv:UnspecifiedMatching MONDO:0005391 restless legs syndrome skos:exactMatch mesh:D012148 semapv:UnspecifiedMatching MONDO:0005392 scoliosis skos:exactMatch DOID:0060249 scoliosis semapv:UnspecifiedMatching MONDO:0005392 scoliosis skos:exactMatch ICD10CM:M41 Scoliosis semapv:UnspecifiedMatching MONDO:0005392 scoliosis skos:exactMatch NCIT:C78603 Scoliosis semapv:UnspecifiedMatching MONDO:0005392 scoliosis skos:exactMatch SCTID:298382003 semapv:UnspecifiedMatching MONDO:0005392 scoliosis skos:exactMatch mesh:D012600 semapv:UnspecifiedMatching MONDO:0005393 gout skos:exactMatch DOID:13189 gout semapv:UnspecifiedMatching MONDO:0005393 gout skos:exactMatch ICD10CM:M10 Gout semapv:UnspecifiedMatching MONDO:0005393 gout skos:exactMatch NCIT:C34650 Gout semapv:UnspecifiedMatching MONDO:0005393 gout skos:exactMatch SCTID:190828008 semapv:UnspecifiedMatching MONDO:0005393 gout skos:exactMatch UMLS:C0018099 semapv:UnspecifiedMatching MONDO:0005393 gout skos:exactMatch mesh:D006073 semapv:UnspecifiedMatching MONDO:0005394 brain infarction skos:exactMatch DOID:3454 brain infarction semapv:UnspecifiedMatching MONDO:0005394 brain infarction skos:exactMatch UMLS:C0751955 semapv:UnspecifiedMatching MONDO:0005394 brain infarction skos:exactMatch mesh:D020520 semapv:UnspecifiedMatching MONDO:0005395 movement disorder skos:exactMatch DOID:480 movement disease semapv:UnspecifiedMatching MONDO:0005395 movement disorder skos:exactMatch NCIT:C116757 Movement Disorder semapv:UnspecifiedMatching MONDO:0005395 movement disorder skos:exactMatch SCTID:60342002 semapv:UnspecifiedMatching MONDO:0005395 movement disorder skos:exactMatch mesh:D009069 semapv:UnspecifiedMatching MONDO:0005396 thoracic aortic aneurysm skos:exactMatch DOID:14004 thoracic aortic aneurysm semapv:UnspecifiedMatching MONDO:0005396 thoracic aortic aneurysm skos:exactMatch SCTID:433068007 semapv:UnspecifiedMatching MONDO:0005396 thoracic aortic aneurysm skos:exactMatch UMLS:C0162872 semapv:UnspecifiedMatching MONDO:0005396 thoracic aortic aneurysm skos:exactMatch mesh:D017545 semapv:UnspecifiedMatching MONDO:0005397 goiter skos:exactMatch DOID:12176 goiter semapv:UnspecifiedMatching MONDO:0005397 goiter skos:exactMatch NCIT:C26785 Goiter semapv:UnspecifiedMatching MONDO:0005397 goiter skos:exactMatch SCTID:3716002 semapv:UnspecifiedMatching MONDO:0005397 goiter skos:exactMatch mesh:D006042 semapv:UnspecifiedMatching MONDO:0005398 upper aerodigestive tract neoplasm skos:exactMatch SCTID:439361000 semapv:UnspecifiedMatching MONDO:0005399 venous thromboembolism skos:exactMatch NCIT:C99537 Venous Thromboembolism semapv:UnspecifiedMatching MONDO:0005399 venous thromboembolism skos:exactMatch UMLS:C1861172 semapv:UnspecifiedMatching MONDO:0005399 venous thromboembolism skos:exactMatch mesh:D054556 semapv:UnspecifiedMatching MONDO:0005401 colonic neoplasm skos:exactMatch NCIT:C2953 Colon Neoplasm semapv:UnspecifiedMatching MONDO:0005401 colonic neoplasm skos:exactMatch UMLS:C0009375 semapv:UnspecifiedMatching MONDO:0005401 colonic neoplasm skos:exactMatch mesh:D003110 semapv:UnspecifiedMatching MONDO:0005402 lymphoid leukemia skos:exactMatch DOID:1037 lymphoid leukemia semapv:UnspecifiedMatching MONDO:0005402 lymphoid leukemia skos:exactMatch NCIT:C7539 Lymphoid Leukemia semapv:UnspecifiedMatching MONDO:0005402 lymphoid leukemia skos:exactMatch SCTID:188726003 semapv:UnspecifiedMatching MONDO:0005402 lymphoid leukemia skos:exactMatch UMLS:C0023448 semapv:UnspecifiedMatching MONDO:0005402 lymphoid leukemia skos:exactMatch mesh:D007945 semapv:UnspecifiedMatching MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome skos:exactMatch DOID:8544 chronic fatigue syndrome semapv:UnspecifiedMatching MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome skos:exactMatch NCIT:C3037 Chronic Fatigue Syndrome semapv:UnspecifiedMatching MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome skos:exactMatch SCTID:51771007 semapv:UnspecifiedMatching MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome skos:exactMatch UMLS:C0015674 semapv:UnspecifiedMatching MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome skos:exactMatch mesh:D015673 semapv:UnspecifiedMatching MONDO:0005405 childhood onset asthma skos:exactMatch DOID:0080815 childhood-onset asthma semapv:UnspecifiedMatching MONDO:0005405 childhood onset asthma skos:exactMatch SCTID:233678006 semapv:UnspecifiedMatching MONDO:0005405 childhood onset asthma skos:exactMatch UMLS:C0264408 semapv:UnspecifiedMatching MONDO:0005406 gestational diabetes skos:exactMatch DOID:11714 gestational diabetes semapv:UnspecifiedMatching MONDO:0005406 gestational diabetes skos:exactMatch NCIT:C34942 Gestational Diabetes semapv:UnspecifiedMatching MONDO:0005406 gestational diabetes skos:exactMatch SCTID:11687002 semapv:UnspecifiedMatching MONDO:0005406 gestational diabetes skos:exactMatch UMLS:C0085207 semapv:UnspecifiedMatching MONDO:0005406 gestational diabetes skos:exactMatch mesh:D016640 semapv:UnspecifiedMatching MONDO:0005411 gallbladder cancer skos:exactMatch DOID:3121 gallbladder cancer semapv:UnspecifiedMatching MONDO:0005411 gallbladder cancer skos:exactMatch NCIT:C7481 Gallbladder Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0005411 gallbladder cancer skos:exactMatch SCTID:363353009 semapv:UnspecifiedMatching MONDO:0005411 gallbladder cancer skos:exactMatch UMLS:C0153452 semapv:UnspecifiedMatching MONDO:0005412 duodenal ulcer skos:exactMatch DOID:1724 duodenal ulcer semapv:UnspecifiedMatching MONDO:0005412 duodenal ulcer skos:exactMatch ICD10CM:K26 Duodenal ulcer semapv:UnspecifiedMatching MONDO:0005412 duodenal ulcer skos:exactMatch NCIT:C26755 Duodenal Ulcer semapv:UnspecifiedMatching MONDO:0005412 duodenal ulcer skos:exactMatch SCTID:39755000 semapv:UnspecifiedMatching MONDO:0005412 duodenal ulcer skos:exactMatch mesh:D004381 semapv:UnspecifiedMatching MONDO:0005416 osteoarthritis, knee skos:exactMatch UMLS:C0409959 semapv:UnspecifiedMatching MONDO:0005416 osteoarthritis, knee skos:exactMatch mesh:D020370 semapv:UnspecifiedMatching MONDO:0005417 wet macular degeneration skos:exactMatch DOID:10873 Kuhnt-Junius degeneration semapv:UnspecifiedMatching MONDO:0005417 wet macular degeneration skos:exactMatch SCTID:414173003 semapv:UnspecifiedMatching MONDO:0005417 wet macular degeneration skos:exactMatch UMLS:C2237660 semapv:UnspecifiedMatching MONDO:0005417 wet macular degeneration skos:exactMatch mesh:D057135 semapv:UnspecifiedMatching MONDO:0005420 hypothyroidism skos:exactMatch DOID:1459 hypothyroidism semapv:UnspecifiedMatching MONDO:0005420 hypothyroidism skos:exactMatch NCIT:C26800 Hypothyroidism semapv:UnspecifiedMatching MONDO:0005420 hypothyroidism skos:exactMatch SCTID:40930008 semapv:UnspecifiedMatching MONDO:0005420 hypothyroidism skos:exactMatch mesh:D007037 semapv:UnspecifiedMatching MONDO:0005424 elephantiasis skos:exactMatch DOID:4976 elephantiasis semapv:UnspecifiedMatching MONDO:0005424 elephantiasis skos:exactMatch UMLS:C0013882 semapv:UnspecifiedMatching MONDO:0005424 elephantiasis skos:exactMatch mesh:D004604 semapv:UnspecifiedMatching MONDO:0005425 podoconiosis skos:exactMatch DOID:0050138 podoconiosis semapv:UnspecifiedMatching MONDO:0005425 podoconiosis skos:exactMatch SCTID:47595008 semapv:UnspecifiedMatching MONDO:0005429 prion disease skos:exactMatch DOID:649 prion disease semapv:UnspecifiedMatching MONDO:0005429 prion disease skos:exactMatch NCIT:C128346 Transmissible Spongiform Encephalopathy semapv:UnspecifiedMatching MONDO:0005429 prion disease skos:exactMatch SCTID:230284004 semapv:UnspecifiedMatching MONDO:0005429 prion disease skos:exactMatch mesh:D017096 semapv:UnspecifiedMatching MONDO:0005433 alcohol withdrawal skos:exactMatch SCTID:191480000 semapv:UnspecifiedMatching MONDO:0005433 alcohol withdrawal skos:exactMatch UMLS:C0236663 semapv:UnspecifiedMatching MONDO:0005437 testicular dysgenesis syndrome skos:exactMatch SCTID:445338005 semapv:UnspecifiedMatching MONDO:0005437 testicular dysgenesis syndrome skos:exactMatch UMLS:C2919755 semapv:UnspecifiedMatching MONDO:0005438 metastatic malignant neoplasm in the lymph nodes skos:exactMatch NCIT:C4904 Metastatic Malignant Neoplasm in the Lymph Nodes semapv:UnspecifiedMatching MONDO:0005438 metastatic malignant neoplasm in the lymph nodes skos:exactMatch UMLS:C0686619 semapv:UnspecifiedMatching MONDO:0005439 familial hypercholesterolemia skos:exactMatch DOID:13810 familial hypercholesterolemia semapv:UnspecifiedMatching MONDO:0005439 familial hypercholesterolemia skos:exactMatch NCIT:C34704 Hyperlipoproteinemia, Type II semapv:UnspecifiedMatching MONDO:0005439 familial hypercholesterolemia skos:exactMatch OMIMPS:143890 semapv:UnspecifiedMatching MONDO:0005439 familial hypercholesterolemia skos:exactMatch SCTID:190773008 semapv:UnspecifiedMatching MONDO:0005439 familial hypercholesterolemia skos:exactMatch UMLS:C0020445 semapv:UnspecifiedMatching MONDO:0005440 embryonal carcinoma skos:exactMatch DOID:3308 embryonal carcinoma semapv:UnspecifiedMatching MONDO:0005440 embryonal carcinoma skos:exactMatch NCIT:C3752 Embryonal Carcinoma semapv:UnspecifiedMatching MONDO:0005440 embryonal carcinoma skos:exactMatch Orphanet:180226 Embryonal carcinoma semapv:UnspecifiedMatching MONDO:0005440 embryonal carcinoma skos:exactMatch UMLS:C0206659 semapv:UnspecifiedMatching MONDO:0005440 embryonal carcinoma skos:exactMatch mesh:D018236 semapv:UnspecifiedMatching MONDO:0005441 otitis media skos:exactMatch DOID:10754 otitis media semapv:UnspecifiedMatching MONDO:0005441 otitis media skos:exactMatch NCIT:C34885 Otitis Media semapv:UnspecifiedMatching MONDO:0005441 otitis media skos:exactMatch SCTID:65363002 semapv:UnspecifiedMatching MONDO:0005441 otitis media skos:exactMatch UMLS:C0029882 semapv:UnspecifiedMatching MONDO:0005441 otitis media skos:exactMatch mesh:D010033 semapv:UnspecifiedMatching MONDO:0005445 visceral leishmaniasis skos:exactMatch DOID:9146 visceral leishmaniasis semapv:UnspecifiedMatching MONDO:0005445 visceral leishmaniasis skos:exactMatch ICD10CM:B55.0 Visceral leishmaniasis semapv:UnspecifiedMatching MONDO:0005445 visceral leishmaniasis skos:exactMatch NCIT:C34771 Kala-Azar semapv:UnspecifiedMatching MONDO:0005445 visceral leishmaniasis skos:exactMatch OMIMPS:608207 semapv:UnspecifiedMatching MONDO:0005445 visceral leishmaniasis skos:exactMatch SCTID:186803007 semapv:UnspecifiedMatching MONDO:0005445 visceral leishmaniasis skos:exactMatch UMLS:C0023290 semapv:UnspecifiedMatching MONDO:0005445 visceral leishmaniasis skos:exactMatch mesh:D007898 semapv:UnspecifiedMatching MONDO:0005446 cutaneous leishmaniasis skos:exactMatch DOID:9111 cutaneous leishmaniasis semapv:UnspecifiedMatching MONDO:0005446 cutaneous leishmaniasis skos:exactMatch ICD10CM:B55.1 Cutaneous leishmaniasis semapv:UnspecifiedMatching MONDO:0005446 cutaneous leishmaniasis skos:exactMatch NCIT:C34768 Cutaneous Leishmaniasis semapv:UnspecifiedMatching MONDO:0005446 cutaneous leishmaniasis skos:exactMatch NCIT:C34770 Asian Desert Cutaneous Leishmaniasis semapv:UnspecifiedMatching MONDO:0005446 cutaneous leishmaniasis skos:exactMatch SCTID:186807008 semapv:UnspecifiedMatching MONDO:0005446 cutaneous leishmaniasis skos:exactMatch UMLS:C0023283 semapv:UnspecifiedMatching MONDO:0005446 cutaneous leishmaniasis skos:exactMatch mesh:D016773 semapv:UnspecifiedMatching MONDO:0005447 testicular cancer skos:exactMatch DOID:2998 testicular cancer semapv:UnspecifiedMatching MONDO:0005447 testicular cancer skos:exactMatch NCIT:C7251 Malignant Testicular Neoplasm semapv:UnspecifiedMatching MONDO:0005447 testicular cancer skos:exactMatch SCTID:363449006 semapv:UnspecifiedMatching MONDO:0005447 testicular cancer skos:exactMatch mesh:D013736 semapv:UnspecifiedMatching MONDO:0005451 eating disorder skos:exactMatch DOID:8670 eating disorder semapv:UnspecifiedMatching MONDO:0005451 eating disorder skos:exactMatch NCIT:C89332 Eating Disorder semapv:UnspecifiedMatching MONDO:0005451 eating disorder skos:exactMatch SCTID:72366004 semapv:UnspecifiedMatching MONDO:0005452 bulimia nervosa skos:exactMatch DOID:12129 bulimia nervosa semapv:UnspecifiedMatching MONDO:0005452 bulimia nervosa skos:exactMatch ICD10CM:F50.2 Bulimia nervosa semapv:UnspecifiedMatching MONDO:0005452 bulimia nervosa skos:exactMatch NCIT:C34440 Bulimia Nervosa semapv:UnspecifiedMatching MONDO:0005452 bulimia nervosa skos:exactMatch SCTID:78004001 semapv:UnspecifiedMatching MONDO:0005452 bulimia nervosa skos:exactMatch mesh:D052018 semapv:UnspecifiedMatching MONDO:0005453 congenital heart disease skos:exactMatch DOID:1682 congenital heart disease semapv:UnspecifiedMatching MONDO:0005453 congenital heart disease skos:exactMatch NCIT:C95834 Congenital Heart Disease semapv:UnspecifiedMatching MONDO:0005453 congenital heart disease skos:exactMatch SCTID:13213009 semapv:UnspecifiedMatching MONDO:0005453 congenital heart disease skos:exactMatch UMLS:C0152021 semapv:UnspecifiedMatching MONDO:0005453 congenital heart disease skos:exactMatch mesh:D006330 semapv:UnspecifiedMatching MONDO:0005454 lung neuroendocrine neoplasm skos:exactMatch DOID:5410 pulmonary neuroendocrine tumor semapv:UnspecifiedMatching MONDO:0005454 lung neuroendocrine neoplasm skos:exactMatch NCIT:C5670 Lung Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0005454 lung neuroendocrine neoplasm skos:exactMatch SCTID:707594002 semapv:UnspecifiedMatching MONDO:0005454 lung neuroendocrine neoplasm skos:exactMatch UMLS:C1334452 semapv:UnspecifiedMatching MONDO:0005459 human African trypanosomiasis skos:exactMatch DOID:10112 sleeping sickness semapv:UnspecifiedMatching MONDO:0005459 human African trypanosomiasis skos:exactMatch NCIT:C84541 African Trypanosomiasis semapv:UnspecifiedMatching MONDO:0005459 human African trypanosomiasis skos:exactMatch Orphanet:3385 African trypanosomiasis semapv:UnspecifiedMatching MONDO:0005459 human African trypanosomiasis skos:exactMatch SCTID:27031003 semapv:UnspecifiedMatching MONDO:0005459 human African trypanosomiasis skos:exactMatch UMLS:C0041228 semapv:UnspecifiedMatching MONDO:0005460 swine influenza skos:exactMatch DOID:0050211 swine influenza semapv:UnspecifiedMatching MONDO:0005460 swine influenza skos:exactMatch NCIT:C80444 H1N1 Influenza semapv:UnspecifiedMatching MONDO:0005460 swine influenza skos:exactMatch SCTID:442696006 semapv:UnspecifiedMatching MONDO:0005461 endometrium adenocarcinoma skos:exactMatch DOID:2870 endometrial adenocarcinoma semapv:UnspecifiedMatching MONDO:0005461 endometrium adenocarcinoma skos:exactMatch NCIT:C7359 Endometrial Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005461 endometrium adenocarcinoma skos:exactMatch UMLS:C0279763 semapv:UnspecifiedMatching MONDO:0005461 endometrium adenocarcinoma skos:exactMatch UMLS:C1153706 semapv:UnspecifiedMatching MONDO:0005462 primitive neuroectodermal tumor skos:exactMatch DOID:171 neuroectodermal tumor semapv:UnspecifiedMatching MONDO:0005462 primitive neuroectodermal tumor skos:exactMatch NCIT:C3716 Primitive Neuroectodermal Tumor semapv:UnspecifiedMatching MONDO:0005462 primitive neuroectodermal tumor skos:exactMatch mesh:D017599 semapv:UnspecifiedMatching MONDO:0005463 aortic valve calcification skos:exactMatch SCTID:250978003 semapv:UnspecifiedMatching MONDO:0005463 aortic valve calcification skos:exactMatch UMLS:C0428791 semapv:UnspecifiedMatching MONDO:0005464 rhegmatogenous retinal detachment skos:exactMatch NCIT:C118755 Rhegmatogenous Retinal Detachment semapv:UnspecifiedMatching MONDO:0005464 rhegmatogenous retinal detachment skos:exactMatch SCTID:19620000 semapv:UnspecifiedMatching MONDO:0005464 rhegmatogenous retinal detachment skos:exactMatch UMLS:C0271055 semapv:UnspecifiedMatching MONDO:0005466 hypersomnia skos:exactMatch NCIT:C78346 Hypersomnia semapv:UnspecifiedMatching MONDO:0005466 hypersomnia skos:exactMatch SCTID:77692006 semapv:UnspecifiedMatching MONDO:0005466 hypersomnia skos:exactMatch UMLS:C0917799 semapv:UnspecifiedMatching MONDO:0005467 occupation-related stress disorder skos:exactMatch SCTID:10586006 semapv:UnspecifiedMatching MONDO:0005468 hypotensive disorder skos:exactMatch SCTID:45007003 semapv:UnspecifiedMatching MONDO:0005468 hypotensive disorder skos:exactMatch mesh:D007022 semapv:UnspecifiedMatching MONDO:0005469 orthostatic hypotension skos:exactMatch SCTID:28651003 semapv:UnspecifiedMatching MONDO:0005473 temporomandibular joint disorder skos:exactMatch NCIT:C63709 Temporomandibular Joint Disorder semapv:UnspecifiedMatching MONDO:0005473 temporomandibular joint disorder skos:exactMatch SCTID:41888000 semapv:UnspecifiedMatching MONDO:0005473 temporomandibular joint disorder skos:exactMatch mesh:D013705 semapv:UnspecifiedMatching MONDO:0005475 migraine with aura skos:exactMatch DOID:10024 migraine with aura semapv:UnspecifiedMatching MONDO:0005475 migraine with aura skos:exactMatch NCIT:C117005 Migraine With Aura semapv:UnspecifiedMatching MONDO:0005475 migraine with aura skos:exactMatch SCTID:4473006 semapv:UnspecifiedMatching MONDO:0005475 migraine with aura skos:exactMatch UMLS:C0154723 semapv:UnspecifiedMatching MONDO:0005475 migraine with aura skos:exactMatch mesh:D020325 semapv:UnspecifiedMatching MONDO:0005477 ventricular tachycardia skos:exactMatch ICD10CM:I47.2 Ventricular tachycardia semapv:UnspecifiedMatching MONDO:0005477 ventricular tachycardia skos:exactMatch NCIT:C50802 Ventricular Tachycardia semapv:UnspecifiedMatching MONDO:0005477 ventricular tachycardia skos:exactMatch SCTID:25569003 semapv:UnspecifiedMatching MONDO:0005477 ventricular tachycardia skos:exactMatch UMLS:C0042514 semapv:UnspecifiedMatching MONDO:0005477 ventricular tachycardia skos:exactMatch mesh:D017180 semapv:UnspecifiedMatching MONDO:0005478 torsades de pointes skos:exactMatch SCTID:31722008 semapv:UnspecifiedMatching MONDO:0005478 torsades de pointes skos:exactMatch UMLS:C0040479 semapv:UnspecifiedMatching MONDO:0005478 torsades de pointes skos:exactMatch mesh:D016171 semapv:UnspecifiedMatching MONDO:0005479 atrial tachycardia skos:exactMatch NCIT:C35481 Atrial Tachycardia semapv:UnspecifiedMatching MONDO:0005479 atrial tachycardia skos:exactMatch SCTID:276796006 semapv:UnspecifiedMatching MONDO:0005480 contact dermatitis skos:exactMatch DOID:2773 contact dermatitis semapv:UnspecifiedMatching MONDO:0005480 contact dermatitis skos:exactMatch NCIT:C26743 Contact Dermatitis semapv:UnspecifiedMatching MONDO:0005480 contact dermatitis skos:exactMatch SCTID:40275004 semapv:UnspecifiedMatching MONDO:0005480 contact dermatitis skos:exactMatch UMLS:C0011616 semapv:UnspecifiedMatching MONDO:0005480 contact dermatitis skos:exactMatch mesh:D003877 semapv:UnspecifiedMatching MONDO:0005481 contact dermatitis due to nickel skos:exactMatch SCTID:93419003 semapv:UnspecifiedMatching MONDO:0005481 contact dermatitis due to nickel skos:exactMatch UMLS:C0684345 semapv:UnspecifiedMatching MONDO:0005482 obsolete molar-incisor hypomineralization skos:exactMatch SCTID:698053001 semapv:UnspecifiedMatching MONDO:0005483 chemotherapy-induced alopecia skos:exactMatch NCIT:C164162 Chemotherapy-Induced Alopecia semapv:UnspecifiedMatching MONDO:0005484 colorectal adenoma skos:exactMatch DOID:0050860 colorectal adenoma semapv:UnspecifiedMatching MONDO:0005484 colorectal adenoma skos:exactMatch DOID:0050914 large intestine adenoma semapv:UnspecifiedMatching MONDO:0005484 colorectal adenoma skos:exactMatch NCIT:C5673 Colorectal Adenoma semapv:UnspecifiedMatching MONDO:0005484 colorectal adenoma skos:exactMatch SCTID:399432003 semapv:UnspecifiedMatching MONDO:0005484 colorectal adenoma skos:exactMatch UMLS:C1302401 semapv:UnspecifiedMatching MONDO:0005485 psychotic disorder skos:exactMatch DOID:2468 psychotic disorder semapv:UnspecifiedMatching MONDO:0005485 psychotic disorder skos:exactMatch NCIT:C78576 Psychosis semapv:UnspecifiedMatching MONDO:0005485 psychotic disorder skos:exactMatch SCTID:69322001 semapv:UnspecifiedMatching MONDO:0005486 tooth agenesis skos:exactMatch DOID:0050591 tooth agenesis semapv:UnspecifiedMatching MONDO:0005486 tooth agenesis skos:exactMatch OMIMPS:106600 semapv:UnspecifiedMatching MONDO:0005486 tooth agenesis skos:exactMatch Orphanet:99798 Oligodontia semapv:UnspecifiedMatching MONDO:0005486 tooth agenesis skos:exactMatch SCTID:64969001 semapv:UnspecifiedMatching MONDO:0005486 tooth agenesis skos:exactMatch UMLS:C0020608 semapv:UnspecifiedMatching MONDO:0005487 schizoaffective disorder skos:exactMatch DOID:5418 schizoaffective disorder semapv:UnspecifiedMatching MONDO:0005487 schizoaffective disorder skos:exactMatch NCIT:C94378 Schizoaffective Disorder semapv:UnspecifiedMatching MONDO:0005488 adolescent idiopathic scoliosis skos:exactMatch SCTID:203646004 semapv:UnspecifiedMatching MONDO:0005489 dyslexia skos:exactMatch DOID:4428 dyslexia semapv:UnspecifiedMatching MONDO:0005489 dyslexia skos:exactMatch NCIT:C96410 Dyslexia semapv:UnspecifiedMatching MONDO:0005489 dyslexia skos:exactMatch mesh:D004410 semapv:UnspecifiedMatching MONDO:0005491 Chagas cardiomyopathy skos:exactMatch SCTID:998008 semapv:UnspecifiedMatching MONDO:0005491 Chagas cardiomyopathy skos:exactMatch mesh:D002598 semapv:UnspecifiedMatching MONDO:0005492 urticaria skos:exactMatch DOID:1555 urticaria semapv:UnspecifiedMatching MONDO:0005492 urticaria skos:exactMatch ICD10CM:L50 Urticaria semapv:UnspecifiedMatching MONDO:0005492 urticaria skos:exactMatch NCIT:C3432 Urticaria semapv:UnspecifiedMatching MONDO:0005492 urticaria skos:exactMatch SCTID:126485001 semapv:UnspecifiedMatching MONDO:0005492 urticaria skos:exactMatch UMLS:C0042109 semapv:UnspecifiedMatching MONDO:0005492 urticaria skos:exactMatch mesh:D014581 semapv:UnspecifiedMatching MONDO:0005494 triple-negative breast carcinoma skos:exactMatch DOID:0060081 triple-receptor negative breast cancer semapv:UnspecifiedMatching MONDO:0005494 triple-negative breast carcinoma skos:exactMatch NCIT:C71732 Triple-Negative Breast Carcinoma semapv:UnspecifiedMatching MONDO:0005494 triple-negative breast carcinoma skos:exactMatch SCTID:706970001 semapv:UnspecifiedMatching MONDO:0005494 triple-negative breast carcinoma skos:exactMatch UMLS:C4722518 semapv:UnspecifiedMatching MONDO:0005494 triple-negative breast carcinoma skos:exactMatch mesh:D064726 semapv:UnspecifiedMatching MONDO:0005495 adrenal gland disorder skos:exactMatch DOID:9553 adrenal gland disease semapv:UnspecifiedMatching MONDO:0005495 adrenal gland disorder skos:exactMatch NCIT:C26690 Adrenal Gland Disorder semapv:UnspecifiedMatching MONDO:0005495 adrenal gland disorder skos:exactMatch SCTID:30171000 semapv:UnspecifiedMatching MONDO:0005495 adrenal gland disorder skos:exactMatch mesh:D000307 semapv:UnspecifiedMatching MONDO:0005496 bile duct carcinoma skos:exactMatch DOID:4897 bile duct carcinoma semapv:UnspecifiedMatching MONDO:0005496 bile duct carcinoma skos:exactMatch NCIT:C27814 Bile Duct Carcinoma semapv:UnspecifiedMatching MONDO:0005496 bile duct carcinoma skos:exactMatch UMLS:C0740277 semapv:UnspecifiedMatching MONDO:0005497 bone development disease skos:exactMatch DOID:0080006 bone development disease semapv:UnspecifiedMatching MONDO:0005497 bone development disease skos:exactMatch SCTID:371521007 semapv:UnspecifiedMatching MONDO:0005498 botulism skos:exactMatch DOID:11976 botulism semapv:UnspecifiedMatching MONDO:0005498 botulism skos:exactMatch NCIT:C84599 Botulism semapv:UnspecifiedMatching MONDO:0005498 botulism skos:exactMatch Orphanet:1267 Botulism semapv:UnspecifiedMatching MONDO:0005498 botulism skos:exactMatch SCTID:398565003 semapv:UnspecifiedMatching MONDO:0005498 botulism skos:exactMatch UMLS:C0006057 semapv:UnspecifiedMatching MONDO:0005498 botulism skos:exactMatch mesh:D001906 semapv:UnspecifiedMatching MONDO:0005499 brain glioma skos:exactMatch DOID:0060108 brain glioma semapv:UnspecifiedMatching MONDO:0005499 brain glioma skos:exactMatch SCTID:254937005 semapv:UnspecifiedMatching MONDO:0005499 brain glioma skos:exactMatch UMLS:C0349661 semapv:UnspecifiedMatching MONDO:0005500 congenital disorder of glycosylation type I skos:exactMatch DOID:0050570 congenital disorder of glycosylation type I semapv:UnspecifiedMatching MONDO:0005500 congenital disorder of glycosylation type I skos:exactMatch OMIMPS:212065 semapv:UnspecifiedMatching MONDO:0005501 congenital disorder of glycosylation type II skos:exactMatch DOID:0050571 congenital disorder of glycosylation type II semapv:UnspecifiedMatching MONDO:0005501 congenital disorder of glycosylation type II skos:exactMatch OMIMPS:212066 semapv:UnspecifiedMatching MONDO:0005501 congenital disorder of glycosylation type II skos:exactMatch mesh:C535747 semapv:UnspecifiedMatching MONDO:0005502 dengue disease skos:exactMatch DOID:12205 dengue disease semapv:UnspecifiedMatching MONDO:0005502 dengue disease skos:exactMatch NCIT:C34528 Dengue Fever semapv:UnspecifiedMatching MONDO:0005502 dengue disease skos:exactMatch Orphanet:99828 Dengue fever semapv:UnspecifiedMatching MONDO:0005502 dengue disease skos:exactMatch SCTID:38362002 semapv:UnspecifiedMatching MONDO:0005502 dengue disease skos:exactMatch UMLS:C0011311 semapv:UnspecifiedMatching MONDO:0005502 dengue disease skos:exactMatch mesh:D003715 semapv:UnspecifiedMatching MONDO:0005503 developmental disorder of mental health skos:exactMatch DOID:0060037 developmental disorder of mental health semapv:UnspecifiedMatching MONDO:0005503 developmental disorder of mental health skos:exactMatch SCTID:129104009 semapv:UnspecifiedMatching MONDO:0005504 diphtheria skos:exactMatch DOID:11405 diphtheria semapv:UnspecifiedMatching MONDO:0005504 diphtheria skos:exactMatch ICD10CM:A36 Diphtheria semapv:UnspecifiedMatching MONDO:0005504 diphtheria skos:exactMatch NCIT:C34541 Diphtheria semapv:UnspecifiedMatching MONDO:0005504 diphtheria skos:exactMatch Orphanet:1679 Diphtheria semapv:UnspecifiedMatching MONDO:0005504 diphtheria skos:exactMatch SCTID:397428000 semapv:UnspecifiedMatching MONDO:0005504 diphtheria skos:exactMatch UMLS:C0012546 semapv:UnspecifiedMatching MONDO:0005504 diphtheria skos:exactMatch mesh:D004165 semapv:UnspecifiedMatching MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:exactMatch DOID:2679 dysembryoplastic neuroepithelial tumor semapv:UnspecifiedMatching MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:exactMatch NCIT:C9505 Dysembryoplastic Neuroepithelial Tumor semapv:UnspecifiedMatching MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:exactMatch Orphanet:251946 Dysembryoplastic neuroepithelial tumor semapv:UnspecifiedMatching MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:exactMatch SCTID:87211000119104 semapv:UnspecifiedMatching MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:exactMatch UMLS:C1266177 semapv:UnspecifiedMatching MONDO:0005506 eccrine sweat gland cancer skos:exactMatch DOID:4921 eccrine sweat gland cancer semapv:UnspecifiedMatching MONDO:0005506 eccrine sweat gland cancer skos:exactMatch NCIT:C5559 Malignant Eccrine Neoplasm semapv:UnspecifiedMatching MONDO:0005506 eccrine sweat gland cancer skos:exactMatch UMLS:C1334577 semapv:UnspecifiedMatching MONDO:0005507 gingival cancer skos:exactMatch DOID:8602 gum cancer semapv:UnspecifiedMatching MONDO:0005507 gingival cancer skos:exactMatch NCIT:C9317 Malignant Gingival Neoplasm semapv:UnspecifiedMatching MONDO:0005507 gingival cancer skos:exactMatch SCTID:363382005 semapv:UnspecifiedMatching MONDO:0005507 gingival cancer skos:exactMatch UMLS:C0153364 semapv:UnspecifiedMatching MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch DOID:206 hereditary multiple exostoses semapv:UnspecifiedMatching MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch NCIT:C5183 Hereditary Multiple Exostoses semapv:UnspecifiedMatching MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch OMIMPS:133700 semapv:UnspecifiedMatching MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch Orphanet:321 Multiple osteochondromas semapv:UnspecifiedMatching MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch SCTID:254044004 semapv:UnspecifiedMatching MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch SCTID:716742001 semapv:UnspecifiedMatching MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch UMLS:C0015306 semapv:UnspecifiedMatching MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch mesh:D005097 semapv:UnspecifiedMatching MONDO:0005509 histiocytoma skos:exactMatch DOID:4231 histiocytoma semapv:UnspecifiedMatching MONDO:0005509 histiocytoma skos:exactMatch NCIT:C35765 Histiocytoma semapv:UnspecifiedMatching MONDO:0005509 histiocytoma skos:exactMatch UMLS:C1509147 semapv:UnspecifiedMatching MONDO:0005509 histiocytoma skos:exactMatch mesh:D051642 semapv:UnspecifiedMatching MONDO:0005510 hydronephrosis skos:exactMatch DOID:11111 hydronephrosis semapv:UnspecifiedMatching MONDO:0005510 hydronephrosis skos:exactMatch NCIT:C26796 Hydronephrosis semapv:UnspecifiedMatching MONDO:0005510 hydronephrosis skos:exactMatch SCTID:43064006 semapv:UnspecifiedMatching MONDO:0005510 hydronephrosis skos:exactMatch UMLS:C0020295 semapv:UnspecifiedMatching MONDO:0005510 hydronephrosis skos:exactMatch mesh:D006869 semapv:UnspecifiedMatching MONDO:0005511 janus kinase-3 deficiency skos:exactMatch DOID:0060008 janus kinase-3 deficiency semapv:UnspecifiedMatching MONDO:0005512 malignant peritoneal mesothelioma skos:exactMatch DOID:1788 peritoneal mesothelioma semapv:UnspecifiedMatching MONDO:0005512 malignant peritoneal mesothelioma skos:exactMatch NCIT:C8704 Advanced Peritoneal Malignant Mesothelioma semapv:UnspecifiedMatching MONDO:0005512 malignant peritoneal mesothelioma skos:exactMatch Orphanet:168811 Malignant peritoneal mesothelioma semapv:UnspecifiedMatching MONDO:0005514 nanophthalmia skos:exactMatch DOID:0080634 nanophthalmos semapv:UnspecifiedMatching MONDO:0005514 nanophthalmia skos:exactMatch OMIMPS:600165 semapv:UnspecifiedMatching MONDO:0005514 nanophthalmia skos:exactMatch Orphanet:35612 Nanophthalmos semapv:UnspecifiedMatching MONDO:0005514 nanophthalmia skos:exactMatch SCTID:716775009 semapv:UnspecifiedMatching MONDO:0005515 oral cavity cancer skos:exactMatch DOID:8618 oral cavity cancer semapv:UnspecifiedMatching MONDO:0005515 oral cavity cancer skos:exactMatch NCIT:C9314 Malignant Oral Cavity Neoplasm semapv:UnspecifiedMatching MONDO:0005515 oral cavity cancer skos:exactMatch SCTID:363505006 semapv:UnspecifiedMatching MONDO:0005516 osteochondrodysplasia skos:exactMatch DOID:2256 osteochondrodysplasia semapv:UnspecifiedMatching MONDO:0005516 osteochondrodysplasia skos:exactMatch NCIT:C84978 Osteochondrodysplasia semapv:UnspecifiedMatching MONDO:0005516 osteochondrodysplasia skos:exactMatch SCTID:105985007 semapv:UnspecifiedMatching MONDO:0005516 osteochondrodysplasia skos:exactMatch UMLS:C0029422 semapv:UnspecifiedMatching MONDO:0005516 osteochondrodysplasia skos:exactMatch mesh:D010009 semapv:UnspecifiedMatching MONDO:0005517 pharynx cancer skos:exactMatch DOID:0060119 pharynx cancer semapv:UnspecifiedMatching MONDO:0005517 pharynx cancer skos:exactMatch NCIT:C7545 Malignant Pharyngeal Neoplasm semapv:UnspecifiedMatching MONDO:0005517 pharynx cancer skos:exactMatch mesh:D010610 semapv:UnspecifiedMatching MONDO:0005518 pseudohermaphroditism skos:exactMatch DOID:3765 pseudohermaphroditism semapv:UnspecifiedMatching MONDO:0005518 pseudohermaphroditism skos:exactMatch ICD10CM:Q56.3 Pseudohermaphroditism, unspecified semapv:UnspecifiedMatching MONDO:0005518 pseudohermaphroditism skos:exactMatch NCIT:C124575 Pseudohermaphroditism semapv:UnspecifiedMatching MONDO:0005518 pseudohermaphroditism skos:exactMatch SCTID:75164001 semapv:UnspecifiedMatching MONDO:0005519 renal pelvis carcinoma skos:exactMatch DOID:4919 renal pelvis carcinoma semapv:UnspecifiedMatching MONDO:0005519 renal pelvis carcinoma skos:exactMatch ICD10CM:C65 Malignant neoplasm of renal pelvis semapv:UnspecifiedMatching MONDO:0005519 renal pelvis carcinoma skos:exactMatch NCIT:C6142 Renal Pelvis Carcinoma semapv:UnspecifiedMatching MONDO:0005519 renal pelvis carcinoma skos:exactMatch SCTID:363457009 semapv:UnspecifiedMatching MONDO:0005519 renal pelvis carcinoma skos:exactMatch UMLS:C1335749 semapv:UnspecifiedMatching MONDO:0005520 rickets skos:exactMatch DOID:10609 rickets semapv:UnspecifiedMatching MONDO:0005520 rickets skos:exactMatch NCIT:C26878 Rickets semapv:UnspecifiedMatching MONDO:0005520 rickets skos:exactMatch SCTID:41345002 semapv:UnspecifiedMatching MONDO:0005520 rickets skos:exactMatch UMLS:C0035579 semapv:UnspecifiedMatching MONDO:0005520 rickets skos:exactMatch mesh:D012279 semapv:UnspecifiedMatching MONDO:0005522 small intestine carcinoma skos:exactMatch DOID:4907 small intestine carcinoma semapv:UnspecifiedMatching MONDO:0005522 small intestine carcinoma skos:exactMatch NCIT:C7724 Small Intestinal Carcinoma semapv:UnspecifiedMatching MONDO:0005522 small intestine carcinoma skos:exactMatch SCTID:448664009 semapv:UnspecifiedMatching MONDO:0005523 steroid inherited metabolic disorder skos:exactMatch DOID:1701 steroid inherited metabolic disorder semapv:UnspecifiedMatching MONDO:0005523 steroid inherited metabolic disorder skos:exactMatch UMLS:C1257809 semapv:UnspecifiedMatching MONDO:0005523 steroid inherited metabolic disorder skos:exactMatch mesh:D043202 semapv:UnspecifiedMatching MONDO:0005524 sweat gland carcinoma skos:exactMatch DOID:5667 sweat gland carcinoma semapv:UnspecifiedMatching MONDO:0005524 sweat gland carcinoma skos:exactMatch NCIT:C6938 Sweat Gland Carcinoma semapv:UnspecifiedMatching MONDO:0005524 sweat gland carcinoma skos:exactMatch UMLS:C1412016 semapv:UnspecifiedMatching MONDO:0005525 T-cell leukemia skos:exactMatch UMLS:C0023492 semapv:UnspecifiedMatching MONDO:0005525 T-cell leukemia skos:exactMatch mesh:D015458 semapv:UnspecifiedMatching MONDO:0005526 tetanus skos:exactMatch DOID:11338 tetanus semapv:UnspecifiedMatching MONDO:0005526 tetanus skos:exactMatch NCIT:C85185 Tetanus semapv:UnspecifiedMatching MONDO:0005526 tetanus skos:exactMatch Orphanet:3299 Tetanus semapv:UnspecifiedMatching MONDO:0005526 tetanus skos:exactMatch SCTID:276202003 semapv:UnspecifiedMatching MONDO:0005526 tetanus skos:exactMatch SCTID:76902006 semapv:UnspecifiedMatching MONDO:0005526 tetanus skos:exactMatch UMLS:C0039614 semapv:UnspecifiedMatching MONDO:0005526 tetanus skos:exactMatch mesh:D013742 semapv:UnspecifiedMatching MONDO:0005527 toxic encephalopathy skos:exactMatch DOID:3602 toxic encephalopathy semapv:UnspecifiedMatching MONDO:0005527 toxic encephalopathy skos:exactMatch ICD10CM:G92 Toxic encephalopathy semapv:UnspecifiedMatching MONDO:0005527 toxic encephalopathy skos:exactMatch NCIT:C27961 Neurotoxicity Syndrome semapv:UnspecifiedMatching MONDO:0005527 toxic encephalopathy skos:exactMatch SCTID:28394000 semapv:UnspecifiedMatching MONDO:0005527 toxic encephalopathy skos:exactMatch mesh:D020258 semapv:UnspecifiedMatching MONDO:0005528 inborn vitamin metabolic disorder skos:exactMatch DOID:0050718 vitamin metabolic disorder semapv:UnspecifiedMatching MONDO:0005530 opiate dependence skos:exactMatch DOID:2559 opiate dependence semapv:UnspecifiedMatching MONDO:0005530 opiate dependence skos:exactMatch SCTID:75544000 semapv:UnspecifiedMatching MONDO:0005530 opiate dependence skos:exactMatch mesh:D009293 semapv:UnspecifiedMatching MONDO:0005531 morphine dependence skos:exactMatch DOID:2560 morphine dependence semapv:UnspecifiedMatching MONDO:0005531 morphine dependence skos:exactMatch SCTID:231479000 semapv:UnspecifiedMatching MONDO:0005531 morphine dependence skos:exactMatch mesh:D009021 semapv:UnspecifiedMatching MONDO:0005532 Crohn's colitis skos:exactMatch DOID:0060192 Crohn's colitis semapv:UnspecifiedMatching MONDO:0005532 Crohn's colitis skos:exactMatch NCIT:C35211 Crohn Colitis semapv:UnspecifiedMatching MONDO:0005533 distal colitis skos:exactMatch SCTID:373639002 semapv:UnspecifiedMatching MONDO:0005533 distal colitis skos:exactMatch UMLS:C0860168 semapv:UnspecifiedMatching MONDO:0005534 ileocolitis skos:exactMatch DOID:0060190 ileocolitis semapv:UnspecifiedMatching MONDO:0005534 ileocolitis skos:exactMatch UMLS:C0949272 semapv:UnspecifiedMatching MONDO:0005535 oral Crohn disease skos:exactMatch SCTID:196578009 semapv:UnspecifiedMatching MONDO:0005535 oral Crohn disease skos:exactMatch UMLS:C0399497 semapv:UnspecifiedMatching MONDO:0005537 perianal Crohn disease skos:exactMatch SCTID:235796008 semapv:UnspecifiedMatching MONDO:0005537 perianal Crohn disease skos:exactMatch UMLS:C0341395 semapv:UnspecifiedMatching MONDO:0005538 proctitis skos:exactMatch DOID:3127 proctitis semapv:UnspecifiedMatching MONDO:0005538 proctitis skos:exactMatch NCIT:C38011 Proctitis semapv:UnspecifiedMatching MONDO:0005538 proctitis skos:exactMatch SCTID:3951002 semapv:UnspecifiedMatching MONDO:0005538 proctitis skos:exactMatch UMLS:C0033246 semapv:UnspecifiedMatching MONDO:0005538 proctitis skos:exactMatch mesh:D011349 semapv:UnspecifiedMatching MONDO:0005541 spondylolysis skos:exactMatch DOID:2300 spondylolysis semapv:UnspecifiedMatching MONDO:0005541 spondylolysis skos:exactMatch NCIT:C35034 Spondylolysis semapv:UnspecifiedMatching MONDO:0005541 spondylolysis skos:exactMatch SCTID:240221008 semapv:UnspecifiedMatching MONDO:0005541 spondylolysis skos:exactMatch UMLS:C0038018 semapv:UnspecifiedMatching MONDO:0005541 spondylolysis skos:exactMatch mesh:D013169 semapv:UnspecifiedMatching MONDO:0005542 acute coronary syndrome skos:exactMatch NCIT:C53652 Acute Coronary Syndrome semapv:UnspecifiedMatching MONDO:0005542 acute coronary syndrome skos:exactMatch SCTID:394659003 semapv:UnspecifiedMatching MONDO:0005542 acute coronary syndrome skos:exactMatch UMLS:C0948089 semapv:UnspecifiedMatching MONDO:0005542 acute coronary syndrome skos:exactMatch mesh:D054058 semapv:UnspecifiedMatching MONDO:0005543 autoimmune hepatitis type 1 skos:exactMatch Orphanet:563576 Autoimmune hepatitis type 1 semapv:UnspecifiedMatching MONDO:0005543 autoimmune hepatitis type 1 skos:exactMatch SCTID:197284004 semapv:UnspecifiedMatching MONDO:0005543 autoimmune hepatitis type 1 skos:exactMatch SCTID:721711009 semapv:UnspecifiedMatching MONDO:0005545 staphylococcus aureus infection skos:exactMatch NCIT:C122576 Staphylococcus aureus Infection semapv:UnspecifiedMatching MONDO:0005545 staphylococcus aureus infection skos:exactMatch SCTID:406602003 semapv:UnspecifiedMatching MONDO:0005546 fibromyalgia skos:exactMatch DOID:631 fibromyalgia semapv:UnspecifiedMatching MONDO:0005546 fibromyalgia skos:exactMatch ICD10CM:M79.7 Fibromyalgia semapv:UnspecifiedMatching MONDO:0005546 fibromyalgia skos:exactMatch NCIT:C87497 Fibromyalgia semapv:UnspecifiedMatching MONDO:0005546 fibromyalgia skos:exactMatch SCTID:203082005 semapv:UnspecifiedMatching MONDO:0005546 fibromyalgia skos:exactMatch UMLS:C0016053 semapv:UnspecifiedMatching MONDO:0005546 fibromyalgia skos:exactMatch mesh:D005356 semapv:UnspecifiedMatching MONDO:0005549 renal cell adenocarcinoma skos:exactMatch NCIT:C9385 Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005550 infectious disease skos:exactMatch DOID:0050117 disease by infectious agent semapv:UnspecifiedMatching MONDO:0005550 infectious disease skos:exactMatch ICD10CM:A00-B99 Certain infectious and parasitic diseases (A00-B99) semapv:UnspecifiedMatching MONDO:0005550 infectious disease skos:exactMatch NCIT:C26726 Infectious Disorder semapv:UnspecifiedMatching MONDO:0005550 infectious disease skos:exactMatch SCTID:40733004 semapv:UnspecifiedMatching MONDO:0005550 infectious disease skos:exactMatch mesh:D003141 semapv:UnspecifiedMatching MONDO:0005552 ocular vascular disorder skos:exactMatch NCIT:C35664 Ocular Vascular Disorder semapv:UnspecifiedMatching MONDO:0005554 rheumatic disorder skos:exactMatch DOID:1575 rheumatic disease semapv:UnspecifiedMatching MONDO:0005554 rheumatic disorder skos:exactMatch NCIT:C27204 Rheumatologic Disorder semapv:UnspecifiedMatching MONDO:0005554 rheumatic disorder skos:exactMatch SCTID:396332003 semapv:UnspecifiedMatching MONDO:0005554 rheumatic disorder skos:exactMatch UMLS:C0009326 semapv:UnspecifiedMatching MONDO:0005554 rheumatic disorder skos:exactMatch mesh:D012216 semapv:UnspecifiedMatching MONDO:0005555 cycloplegia skos:exactMatch DOID:10033 cycloplegia semapv:UnspecifiedMatching MONDO:0005555 cycloplegia skos:exactMatch SCTID:68158006 semapv:UnspecifiedMatching MONDO:0005555 cycloplegia skos:exactMatch UMLS:C0235238 semapv:UnspecifiedMatching MONDO:0005556 lupus nephritis skos:exactMatch DOID:0080162 lupus nephritis semapv:UnspecifiedMatching MONDO:0005556 lupus nephritis skos:exactMatch NCIT:C34789 Lupus Glomerulonephritis semapv:UnspecifiedMatching MONDO:0005556 lupus nephritis skos:exactMatch SCTID:68815009 semapv:UnspecifiedMatching MONDO:0005556 lupus nephritis skos:exactMatch UMLS:C0024143 semapv:UnspecifiedMatching MONDO:0005556 lupus nephritis skos:exactMatch mesh:D008181 semapv:UnspecifiedMatching MONDO:0005557 calcium metabolic disease skos:exactMatch DOID:10575 calcium metabolism disease semapv:UnspecifiedMatching MONDO:0005557 calcium metabolic disease skos:exactMatch SCTID:71638002 semapv:UnspecifiedMatching MONDO:0005557 calcium metabolic disease skos:exactMatch UMLS:C0006705 semapv:UnspecifiedMatching MONDO:0005557 calcium metabolic disease skos:exactMatch mesh:D002128 semapv:UnspecifiedMatching MONDO:0005558 ovarian disorder skos:exactMatch DOID:1100 ovarian disease semapv:UnspecifiedMatching MONDO:0005558 ovarian disorder skos:exactMatch NCIT:C26841 Ovarian Disorder semapv:UnspecifiedMatching MONDO:0005558 ovarian disorder skos:exactMatch SCTID:5552004 semapv:UnspecifiedMatching MONDO:0005558 ovarian disorder skos:exactMatch UMLS:C4021818 semapv:UnspecifiedMatching MONDO:0005558 ovarian disorder skos:exactMatch mesh:D010049 semapv:UnspecifiedMatching MONDO:0005559 neurodegenerative disease skos:exactMatch DOID:1289 neurodegenerative disease semapv:UnspecifiedMatching MONDO:0005559 neurodegenerative disease skos:exactMatch NCIT:C4802 Central Nervous System Degenerative Disorder semapv:UnspecifiedMatching MONDO:0005559 neurodegenerative disease skos:exactMatch SCTID:80690008 semapv:UnspecifiedMatching MONDO:0005559 neurodegenerative disease skos:exactMatch mesh:D019636 semapv:UnspecifiedMatching MONDO:0005560 brain disorder skos:exactMatch DOID:936 brain disease semapv:UnspecifiedMatching MONDO:0005560 brain disorder skos:exactMatch NCIT:C96413 Brain Disorder semapv:UnspecifiedMatching MONDO:0005560 brain disorder skos:exactMatch SCTID:81308009 semapv:UnspecifiedMatching MONDO:0005560 brain disorder skos:exactMatch UMLS:C0006111 semapv:UnspecifiedMatching MONDO:0005560 brain disorder skos:exactMatch UMLS:C0085584 semapv:UnspecifiedMatching MONDO:0005560 brain disorder skos:exactMatch mesh:D001927 semapv:UnspecifiedMatching MONDO:0005561 aortic disorder skos:exactMatch DOID:520 aortic disease semapv:UnspecifiedMatching MONDO:0005561 aortic disorder skos:exactMatch NCIT:C101253 Aorta Disease semapv:UnspecifiedMatching MONDO:0005561 aortic disorder skos:exactMatch SCTID:47040006 semapv:UnspecifiedMatching MONDO:0005561 aortic disorder skos:exactMatch UMLS:C0003493 semapv:UnspecifiedMatching MONDO:0005561 aortic disorder skos:exactMatch mesh:D001018 semapv:UnspecifiedMatching MONDO:0005563 nut midline carcinoma skos:exactMatch DOID:0060463 NUT midline carcinoma semapv:UnspecifiedMatching MONDO:0005563 nut midline carcinoma skos:exactMatch NCIT:C45716 NUT Carcinoma semapv:UnspecifiedMatching MONDO:0005563 nut midline carcinoma skos:exactMatch Orphanet:443167 NUT midline carcinoma semapv:UnspecifiedMatching MONDO:0005563 nut midline carcinoma skos:exactMatch UMLS:C1707291 semapv:UnspecifiedMatching MONDO:0005564 embryonal neoplasm skos:exactMatch DOID:688 embryonal cancer semapv:UnspecifiedMatching MONDO:0005564 embryonal neoplasm skos:exactMatch NCIT:C3264 Embryonal Neoplasm semapv:UnspecifiedMatching MONDO:0005564 embryonal neoplasm skos:exactMatch UMLS:C0027654 semapv:UnspecifiedMatching MONDO:0005565 blastoma skos:exactMatch DOID:0070003 blastoma semapv:UnspecifiedMatching MONDO:0005565 blastoma skos:exactMatch DOID:4766 embryoma semapv:UnspecifiedMatching MONDO:0005565 blastoma skos:exactMatch NCIT:C8997 Blastoma semapv:UnspecifiedMatching MONDO:0005565 blastoma skos:exactMatch UMLS:C0936282 semapv:UnspecifiedMatching MONDO:0005566 neonatal abstinence syndrome skos:exactMatch DOID:9828 neonatal abstinence syndrome semapv:UnspecifiedMatching MONDO:0005566 neonatal abstinence syndrome skos:exactMatch NCIT:C87101 Neonatal Abstinence Syndrome semapv:UnspecifiedMatching MONDO:0005566 neonatal abstinence syndrome skos:exactMatch SCTID:414819007 semapv:UnspecifiedMatching MONDO:0005566 neonatal abstinence syndrome skos:exactMatch UMLS:C0027609 semapv:UnspecifiedMatching MONDO:0005566 neonatal abstinence syndrome skos:exactMatch mesh:D009357 semapv:UnspecifiedMatching MONDO:0005567 substance withdrawal syndrome skos:exactMatch DOID:0060001 withdrawal disorder semapv:UnspecifiedMatching MONDO:0005567 substance withdrawal syndrome skos:exactMatch NCIT:C35046 Substance Withdrawal Syndrome semapv:UnspecifiedMatching MONDO:0005567 substance withdrawal syndrome skos:exactMatch SCTID:363101005 semapv:UnspecifiedMatching MONDO:0005567 substance withdrawal syndrome skos:exactMatch UMLS:C0038587 semapv:UnspecifiedMatching MONDO:0005567 substance withdrawal syndrome skos:exactMatch mesh:D013375 semapv:UnspecifiedMatching MONDO:0005568 cholesterol embolism skos:exactMatch DOID:1461 cholesterol embolism semapv:UnspecifiedMatching MONDO:0005568 cholesterol embolism skos:exactMatch SCTID:307406004 semapv:UnspecifiedMatching MONDO:0005568 cholesterol embolism skos:exactMatch UMLS:C0149649 semapv:UnspecifiedMatching MONDO:0005568 cholesterol embolism skos:exactMatch UMLS:C0585266 semapv:UnspecifiedMatching MONDO:0005568 cholesterol embolism skos:exactMatch mesh:D017700 semapv:UnspecifiedMatching MONDO:0005569 obsolete cartilage disease skos:exactMatch DOID:1222 cartilage disease semapv:UnspecifiedMatching MONDO:0005569 obsolete cartilage disease skos:exactMatch SCTID:50927007 semapv:UnspecifiedMatching MONDO:0005569 obsolete cartilage disease skos:exactMatch UMLS:C0007302 semapv:UnspecifiedMatching MONDO:0005569 obsolete cartilage disease skos:exactMatch mesh:D002357 semapv:UnspecifiedMatching MONDO:0005570 hematologic disorder skos:exactMatch DOID:74 hematopoietic system disease semapv:UnspecifiedMatching MONDO:0005570 hematologic disorder skos:exactMatch ICD10CM:D50-D89 Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism (D50-D89) semapv:UnspecifiedMatching MONDO:0005570 hematologic disorder skos:exactMatch NCIT:C26323 Hematologic and Lymphocytic Disorder semapv:UnspecifiedMatching MONDO:0005570 hematologic disorder skos:exactMatch Orphanet:97992 Rare hematologic disease semapv:UnspecifiedMatching MONDO:0005570 hematologic disorder skos:exactMatch SCTID:414022008 semapv:UnspecifiedMatching MONDO:0005570 hematologic disorder skos:exactMatch UMLS:C0018939 semapv:UnspecifiedMatching MONDO:0005570 hematologic disorder skos:exactMatch mesh:D006402 semapv:UnspecifiedMatching MONDO:0005571 polycythemia skos:exactMatch DOID:8432 polycythemia semapv:UnspecifiedMatching MONDO:0005571 polycythemia skos:exactMatch NCIT:C26863 Polycythemia semapv:UnspecifiedMatching MONDO:0005571 polycythemia skos:exactMatch Orphanet:98427 Polycythemia semapv:UnspecifiedMatching MONDO:0005571 polycythemia skos:exactMatch UMLS:C0032461 semapv:UnspecifiedMatching MONDO:0005571 polycythemia skos:exactMatch mesh:D011086 semapv:UnspecifiedMatching MONDO:0005572 polycythemia due to hypoxia skos:exactMatch DOID:2835 polycythemia due to hypoxia semapv:UnspecifiedMatching MONDO:0005572 polycythemia due to hypoxia skos:exactMatch NCIT:C27312 Polycythemia due to Hypoxia semapv:UnspecifiedMatching MONDO:0005572 polycythemia due to hypoxia skos:exactMatch UMLS:C0856818 semapv:UnspecifiedMatching MONDO:0005574 tauopathy skos:exactMatch DOID:680 tauopathy semapv:UnspecifiedMatching MONDO:0005574 tauopathy skos:exactMatch UMLS:C0949664 semapv:UnspecifiedMatching MONDO:0005574 tauopathy skos:exactMatch mesh:D024801 semapv:UnspecifiedMatching MONDO:0005575 colorectal cancer skos:exactMatch DOID:5672 large intestine cancer semapv:UnspecifiedMatching MONDO:0005575 colorectal cancer skos:exactMatch DOID:9256 colorectal cancer semapv:UnspecifiedMatching MONDO:0005575 colorectal cancer skos:exactMatch NCIT:C4978 Malignant Colorectal Neoplasm semapv:UnspecifiedMatching MONDO:0005575 colorectal cancer skos:exactMatch OMIM:114500 colorectal cancer semapv:UnspecifiedMatching MONDO:0005575 colorectal cancer skos:exactMatch SCTID:363510005 semapv:UnspecifiedMatching MONDO:0005576 cryoglobulinemia skos:exactMatch DOID:2917 cryoglobulinemia semapv:UnspecifiedMatching MONDO:0005576 cryoglobulinemia skos:exactMatch ICD10CM:D89.1 Cryoglobulinemia semapv:UnspecifiedMatching MONDO:0005576 cryoglobulinemia skos:exactMatch NCIT:C26736 Cryoglobulinemia semapv:UnspecifiedMatching MONDO:0005576 cryoglobulinemia skos:exactMatch SCTID:30911005 semapv:UnspecifiedMatching MONDO:0005576 cryoglobulinemia skos:exactMatch UMLS:C0010403 semapv:UnspecifiedMatching MONDO:0005576 cryoglobulinemia skos:exactMatch mesh:D003449 semapv:UnspecifiedMatching MONDO:0005578 arthritic joint disease skos:exactMatch DOID:848 arthritis semapv:UnspecifiedMatching MONDO:0005578 arthritic joint disease skos:exactMatch NCIT:C2883 Arthritis semapv:UnspecifiedMatching MONDO:0005578 arthritic joint disease skos:exactMatch SCTID:3723001 semapv:UnspecifiedMatching MONDO:0005578 arthritic joint disease skos:exactMatch UMLS:C0003864 semapv:UnspecifiedMatching MONDO:0005578 arthritic joint disease skos:exactMatch mesh:D001168 semapv:UnspecifiedMatching MONDO:0005579 epilepsy, idiopathic generalized skos:exactMatch DOID:1827 idiopathic generalized epilepsy semapv:UnspecifiedMatching MONDO:0005579 epilepsy, idiopathic generalized skos:exactMatch NCIT:C3021 Generalized Epilepsy semapv:UnspecifiedMatching MONDO:0005579 epilepsy, idiopathic generalized skos:exactMatch OMIM:600669 epilepsy, idiopathic generalized semapv:UnspecifiedMatching MONDO:0005579 epilepsy, idiopathic generalized skos:exactMatch OMIMPS:600669 semapv:UnspecifiedMatching MONDO:0005579 epilepsy, idiopathic generalized skos:exactMatch SCTID:19598007 semapv:UnspecifiedMatching MONDO:0005579 epilepsy, idiopathic generalized skos:exactMatch mesh:C562694 semapv:UnspecifiedMatching MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch DOID:3748 esophagus squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch NCIT:C4024 Esophageal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch Orphanet:99977 Squamous cell carcinoma of the esophagus semapv:UnspecifiedMatching MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch SCTID:276804009 semapv:UnspecifiedMatching MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch UMLS:C0279626 semapv:UnspecifiedMatching MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch mesh:C562729 semapv:UnspecifiedMatching MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch mesh:D000077277 semapv:UnspecifiedMatching MONDO:0005582 binge eating disorder skos:exactMatch NCIT:C97162 Binge Eating semapv:UnspecifiedMatching MONDO:0005582 binge eating disorder skos:exactMatch SCTID:439960005 semapv:UnspecifiedMatching MONDO:0005582 binge eating disorder skos:exactMatch mesh:D002032 semapv:UnspecifiedMatching MONDO:0005583 non-human animal disease skos:exactMatch UMLS:C0003047 semapv:UnspecifiedMatching MONDO:0005583 non-human animal disease skos:exactMatch mesh:D000820 semapv:UnspecifiedMatching MONDO:0005586 head and neck neoplasm skos:exactMatch NCIT:C3077 Head and Neck Neoplasm semapv:UnspecifiedMatching MONDO:0005586 head and neck neoplasm skos:exactMatch SCTID:255055008 semapv:UnspecifiedMatching MONDO:0005586 head and neck neoplasm skos:exactMatch UMLS:C0018671 semapv:UnspecifiedMatching MONDO:0005590 breast ductal adenocarcinoma skos:exactMatch DOID:3007 breast ductal carcinoma semapv:UnspecifiedMatching MONDO:0005590 breast ductal adenocarcinoma skos:exactMatch NCIT:C4017 Breast Ductal Carcinoma semapv:UnspecifiedMatching MONDO:0005590 breast ductal adenocarcinoma skos:exactMatch mesh:D018270 semapv:UnspecifiedMatching MONDO:0005593 chronic periodontitis skos:exactMatch ICD10CM:K05.3 Chronic periodontitis semapv:UnspecifiedMatching MONDO:0005593 chronic periodontitis skos:exactMatch NCIT:C35326 Chronic Periodontitis semapv:UnspecifiedMatching MONDO:0005593 chronic periodontitis skos:exactMatch SCTID:5689008 semapv:UnspecifiedMatching MONDO:0005593 chronic periodontitis skos:exactMatch mesh:D055113 semapv:UnspecifiedMatching MONDO:0005594 severe cutaneous adverse reaction skos:exactMatch NCIT:C34483 Scar semapv:UnspecifiedMatching MONDO:0005594 severe cutaneous adverse reaction skos:exactMatch SCTID:275322007 semapv:UnspecifiedMatching MONDO:0005595 laryngeal squamous cell carcinoma skos:exactMatch DOID:2876 laryngeal squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0005595 laryngeal squamous cell carcinoma skos:exactMatch NCIT:C4044 Laryngeal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0005595 laryngeal squamous cell carcinoma skos:exactMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:UnspecifiedMatching MONDO:0005595 laryngeal squamous cell carcinoma skos:exactMatch SCTID:405822008 semapv:UnspecifiedMatching MONDO:0005595 laryngeal squamous cell carcinoma skos:exactMatch UMLS:C0280324 semapv:UnspecifiedMatching MONDO:0005596 cystadenocarcinoma skos:exactMatch DOID:3111 cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0005596 cystadenocarcinoma skos:exactMatch NCIT:C2971 Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0005596 cystadenocarcinoma skos:exactMatch UMLS:C0010631 semapv:UnspecifiedMatching MONDO:0005596 cystadenocarcinoma skos:exactMatch mesh:D003536 semapv:UnspecifiedMatching MONDO:0005599 malignant epithelioid mesothelioma skos:exactMatch DOID:4489 malignant epithelial mesothelioma semapv:UnspecifiedMatching MONDO:0005599 malignant epithelioid mesothelioma skos:exactMatch NCIT:C7985 Epithelioid Mesothelioma semapv:UnspecifiedMatching MONDO:0005599 malignant epithelioid mesothelioma skos:exactMatch UMLS:C0862312 semapv:UnspecifiedMatching MONDO:0005601 ovarian mucinous adenocarcinoma skos:exactMatch DOID:3606 ovarian mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0005601 ovarian mucinous adenocarcinoma skos:exactMatch NCIT:C5243 Ovarian Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005601 ovarian mucinous adenocarcinoma skos:exactMatch Orphanet:398961 Mucinous adenocarcinoma of ovary semapv:UnspecifiedMatching MONDO:0005601 ovarian mucinous adenocarcinoma skos:exactMatch UMLS:C1335167 semapv:UnspecifiedMatching MONDO:0005602 ovarian teratoma skos:exactMatch DOID:5567 ovarian germ cell teratoma semapv:UnspecifiedMatching MONDO:0005602 ovarian teratoma skos:exactMatch NCIT:C8110 Ovarian Teratoma semapv:UnspecifiedMatching MONDO:0005602 ovarian teratoma skos:exactMatch SCTID:716077006 semapv:UnspecifiedMatching MONDO:0005602 ovarian teratoma skos:exactMatch UMLS:C0280131 semapv:UnspecifiedMatching MONDO:0005605 transitional cell papilloma skos:exactMatch DOID:2670 transitional papilloma semapv:UnspecifiedMatching MONDO:0005605 transitional cell papilloma skos:exactMatch NCIT:C4115 Transitional Cell Papilloma semapv:UnspecifiedMatching MONDO:0005605 transitional cell papilloma skos:exactMatch UMLS:C0334266 semapv:UnspecifiedMatching MONDO:0005606 tubular adenocarcinoma skos:exactMatch DOID:4929 tubular adenocarcinoma semapv:UnspecifiedMatching MONDO:0005606 tubular adenocarcinoma skos:exactMatch NCIT:C65192 Tubular Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005606 tubular adenocarcinoma skos:exactMatch UMLS:C0205645 semapv:UnspecifiedMatching MONDO:0005607 chronic bronchitis skos:exactMatch NCIT:C26722 Chronic Bronchitis semapv:UnspecifiedMatching MONDO:0005607 chronic bronchitis skos:exactMatch SCTID:63480004 semapv:UnspecifiedMatching MONDO:0005607 chronic bronchitis skos:exactMatch UMLS:C0008677 semapv:UnspecifiedMatching MONDO:0005607 chronic bronchitis skos:exactMatch mesh:D029481 semapv:UnspecifiedMatching MONDO:0005608 varicella zoster infection skos:exactMatch NCIT:C96407 Varicella Zoster Infection semapv:UnspecifiedMatching MONDO:0005608 varicella zoster infection skos:exactMatch SCTID:309465005 semapv:UnspecifiedMatching MONDO:0005608 varicella zoster infection skos:exactMatch UMLS:C0586989 semapv:UnspecifiedMatching MONDO:0005609 herpes zoster skos:exactMatch DOID:8536 herpes zoster semapv:UnspecifiedMatching MONDO:0005609 herpes zoster skos:exactMatch ICD10CM:B02 Zoster [herpes zoster] semapv:UnspecifiedMatching MONDO:0005609 herpes zoster skos:exactMatch NCIT:C71079 Herpes Zoster semapv:UnspecifiedMatching MONDO:0005609 herpes zoster skos:exactMatch SCTID:4740000 semapv:UnspecifiedMatching MONDO:0005609 herpes zoster skos:exactMatch UMLS:C0019360 semapv:UnspecifiedMatching MONDO:0005609 herpes zoster skos:exactMatch mesh:D006562 semapv:UnspecifiedMatching MONDO:0005610 Kashin-Beck disease skos:exactMatch SCTID:270505009 semapv:UnspecifiedMatching MONDO:0005610 Kashin-Beck disease skos:exactMatch UMLS:C2745963 semapv:UnspecifiedMatching MONDO:0005610 Kashin-Beck disease skos:exactMatch mesh:D057767 semapv:UnspecifiedMatching MONDO:0005611 bladder transitional cell carcinoma skos:exactMatch DOID:4006 bladder urothelial carcinoma semapv:UnspecifiedMatching MONDO:0005611 bladder transitional cell carcinoma skos:exactMatch NCIT:C39851 Bladder Urothelial Carcinoma semapv:UnspecifiedMatching MONDO:0005611 bladder transitional cell carcinoma skos:exactMatch SCTID:255109008 semapv:UnspecifiedMatching MONDO:0005611 bladder transitional cell carcinoma skos:exactMatch UMLS:C0279680 semapv:UnspecifiedMatching MONDO:0005613 mesonephric adenocarcinoma skos:exactMatch NCIT:C4072 Mesonephric Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005614 pancreatic adenosquamous carcinoma skos:exactMatch DOID:5637 pancreatic adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0005614 pancreatic adenosquamous carcinoma skos:exactMatch NCIT:C5721 Pancreatic Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0005614 pancreatic adenosquamous carcinoma skos:exactMatch UMLS:C1335299 semapv:UnspecifiedMatching MONDO:0005615 plasmacytoma skos:exactMatch DOID:3721 plasmacytoma semapv:UnspecifiedMatching MONDO:0005615 plasmacytoma skos:exactMatch NCIT:C9349 Plasmacytoma semapv:UnspecifiedMatching MONDO:0005615 plasmacytoma skos:exactMatch Orphanet:86855 Plasmacytoma semapv:UnspecifiedMatching MONDO:0005615 plasmacytoma skos:exactMatch SCTID:415112005 semapv:UnspecifiedMatching MONDO:0005615 plasmacytoma skos:exactMatch UMLS:C0032131 semapv:UnspecifiedMatching MONDO:0005615 plasmacytoma skos:exactMatch mesh:D010954 semapv:UnspecifiedMatching MONDO:0005616 pulmonary mucoepidermoid carcinoma skos:exactMatch DOID:0050932 lung mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0005616 pulmonary mucoepidermoid carcinoma skos:exactMatch NCIT:C45544 Lung Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0005616 pulmonary mucoepidermoid carcinoma skos:exactMatch UMLS:C1708778 semapv:UnspecifiedMatching MONDO:0005617 undifferentiated carcinoma skos:exactMatch NCIT:C3692 Undifferentiated Carcinoma semapv:UnspecifiedMatching MONDO:0005617 undifferentiated carcinoma skos:exactMatch UMLS:C0205698 semapv:UnspecifiedMatching MONDO:0005618 anxiety disorder skos:exactMatch DOID:2030 anxiety disorder semapv:UnspecifiedMatching MONDO:0005618 anxiety disorder skos:exactMatch NCIT:C2878 Anxiety Disorder semapv:UnspecifiedMatching MONDO:0005618 anxiety disorder skos:exactMatch SCTID:197480006 semapv:UnspecifiedMatching MONDO:0005618 anxiety disorder skos:exactMatch mesh:D001008 semapv:UnspecifiedMatching MONDO:0005619 typhoid fever skos:exactMatch DOID:13258 typhoid fever semapv:UnspecifiedMatching MONDO:0005619 typhoid fever skos:exactMatch NCIT:C35089 Typhoid Fever semapv:UnspecifiedMatching MONDO:0005619 typhoid fever skos:exactMatch Orphanet:99745 Typhoid semapv:UnspecifiedMatching MONDO:0005619 typhoid fever skos:exactMatch SCTID:4834000 semapv:UnspecifiedMatching MONDO:0005619 typhoid fever skos:exactMatch UMLS:C0041466 semapv:UnspecifiedMatching MONDO:0005619 typhoid fever skos:exactMatch mesh:D014435 semapv:UnspecifiedMatching MONDO:0005620 cerebral amyloid angiopathy skos:exactMatch DOID:9246 cerebral amyloid angiopathy semapv:UnspecifiedMatching MONDO:0005620 cerebral amyloid angiopathy skos:exactMatch ICD10CM:I68.0 Cerebral amyloid angiopathy semapv:UnspecifiedMatching MONDO:0005620 cerebral amyloid angiopathy skos:exactMatch NCIT:C84625 Cerebral Amyloid Angiopathy semapv:UnspecifiedMatching MONDO:0005620 cerebral amyloid angiopathy skos:exactMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:UnspecifiedMatching MONDO:0005620 cerebral amyloid angiopathy skos:exactMatch SCTID:230724001 semapv:UnspecifiedMatching MONDO:0005620 cerebral amyloid angiopathy skos:exactMatch mesh:D016657 semapv:UnspecifiedMatching MONDO:0005621 vascular brain injury skos:exactMatch mesh:D020214 semapv:UnspecifiedMatching MONDO:0005623 autoimmune thyroid disease skos:exactMatch mesh:D013967 semapv:UnspecifiedMatching MONDO:0005624 atrophic thyroiditis skos:exactMatch SCTID:83664006 semapv:UnspecifiedMatching MONDO:0005624 atrophic thyroiditis skos:exactMatch UMLS:C0238183 semapv:UnspecifiedMatching MONDO:0005625 cerebral malaria skos:exactMatch DOID:14069 cerebral malaria semapv:UnspecifiedMatching MONDO:0005625 cerebral malaria skos:exactMatch NCIT:C128373 Cerebral Malaria semapv:UnspecifiedMatching MONDO:0005625 cerebral malaria skos:exactMatch SCTID:53622003 semapv:UnspecifiedMatching MONDO:0005625 cerebral malaria skos:exactMatch UMLS:C0024534 semapv:UnspecifiedMatching MONDO:0005625 cerebral malaria skos:exactMatch mesh:D016779 semapv:UnspecifiedMatching MONDO:0005626 epithelial neoplasm skos:exactMatch NCIT:C3709 Epithelial Neoplasm semapv:UnspecifiedMatching MONDO:0005626 epithelial neoplasm skos:exactMatch SCTID:118285006 semapv:UnspecifiedMatching MONDO:0005626 epithelial neoplasm skos:exactMatch mesh:D009375 semapv:UnspecifiedMatching MONDO:0005627 head and neck cancer skos:exactMatch DOID:11934 head and neck cancer semapv:UnspecifiedMatching MONDO:0005627 head and neck cancer skos:exactMatch NCIT:C4013 Malignant Head and Neck Neoplasm semapv:UnspecifiedMatching MONDO:0005627 head and neck cancer skos:exactMatch UMLS:C0278996 semapv:UnspecifiedMatching MONDO:0005628 male breast carcinoma skos:exactMatch DOID:1614 male breast cancer semapv:UnspecifiedMatching MONDO:0005628 male breast carcinoma skos:exactMatch NCIT:C3862 Male Breast Carcinoma semapv:UnspecifiedMatching MONDO:0005628 male breast carcinoma skos:exactMatch SCTID:372095001 semapv:UnspecifiedMatching MONDO:0005628 male breast carcinoma skos:exactMatch UMLS:C0238033 semapv:UnspecifiedMatching MONDO:0005628 male breast carcinoma skos:exactMatch mesh:D018567 semapv:UnspecifiedMatching MONDO:0005629 Acanthamoeba keratitis skos:exactMatch NCIT:C50450 Acanthamoeba Keratitis semapv:UnspecifiedMatching MONDO:0005629 Acanthamoeba keratitis skos:exactMatch Orphanet:67043 Amoebic keratitis semapv:UnspecifiedMatching MONDO:0005629 Acanthamoeba keratitis skos:exactMatch SCTID:231896005 semapv:UnspecifiedMatching MONDO:0005629 Acanthamoeba keratitis skos:exactMatch UMLS:C0000880 semapv:UnspecifiedMatching MONDO:0005629 Acanthamoeba keratitis skos:exactMatch mesh:D015823 semapv:UnspecifiedMatching MONDO:0005630 actinobacillosis skos:exactMatch DOID:4974 actinobacillosis semapv:UnspecifiedMatching MONDO:0005630 actinobacillosis skos:exactMatch SCTID:16140007 semapv:UnspecifiedMatching MONDO:0005630 actinobacillosis skos:exactMatch UMLS:C0001247 semapv:UnspecifiedMatching MONDO:0005630 actinobacillosis skos:exactMatch mesh:D000187 semapv:UnspecifiedMatching MONDO:0005631 actinomycosis skos:exactMatch DOID:8478 actinomycosis semapv:UnspecifiedMatching MONDO:0005631 actinomycosis skos:exactMatch NCIT:C34350 Actinomycosis semapv:UnspecifiedMatching MONDO:0005631 actinomycosis skos:exactMatch Orphanet:457095 Actinomycosis semapv:UnspecifiedMatching MONDO:0005631 actinomycosis skos:exactMatch UMLS:C0001261 semapv:UnspecifiedMatching MONDO:0005631 actinomycosis skos:exactMatch mesh:D000196 semapv:UnspecifiedMatching MONDO:0005632 acute chest syndrome skos:exactMatch DOID:1584 acute chest syndrome semapv:UnspecifiedMatching MONDO:0005632 acute chest syndrome skos:exactMatch NCIT:C138179 Acute Chest Syndrome semapv:UnspecifiedMatching MONDO:0005632 acute chest syndrome skos:exactMatch SCTID:372146004 semapv:UnspecifiedMatching MONDO:0005632 acute chest syndrome skos:exactMatch UMLS:C0742343 semapv:UnspecifiedMatching MONDO:0005632 acute chest syndrome skos:exactMatch mesh:D056586 semapv:UnspecifiedMatching MONDO:0005634 acute hemorrhagic conjunctivitis skos:exactMatch DOID:11227 acute hemorrhagic conjunctivitis semapv:UnspecifiedMatching MONDO:0005634 acute hemorrhagic conjunctivitis skos:exactMatch NCIT:C34505 Acute Hemorrhagic Conjunctivitis semapv:UnspecifiedMatching MONDO:0005634 acute hemorrhagic conjunctivitis skos:exactMatch SCTID:398264003 semapv:UnspecifiedMatching MONDO:0005634 acute hemorrhagic conjunctivitis skos:exactMatch UMLS:C0009765 semapv:UnspecifiedMatching MONDO:0005634 acute hemorrhagic conjunctivitis skos:exactMatch mesh:D003232 semapv:UnspecifiedMatching MONDO:0005635 adenomyoma skos:exactMatch DOID:2609 adenomyoma semapv:UnspecifiedMatching MONDO:0005635 adenomyoma skos:exactMatch NCIT:C3726 Adenomyoma semapv:UnspecifiedMatching MONDO:0005635 adenomyoma skos:exactMatch UMLS:C0206622 semapv:UnspecifiedMatching MONDO:0005635 adenomyoma skos:exactMatch mesh:D018194 semapv:UnspecifiedMatching MONDO:0005636 adenosarcoma skos:exactMatch DOID:1974 adenosarcoma semapv:UnspecifiedMatching MONDO:0005636 adenosarcoma skos:exactMatch NCIT:C9474 Adenosarcoma semapv:UnspecifiedMatching MONDO:0005636 adenosarcoma skos:exactMatch UMLS:C0001442 semapv:UnspecifiedMatching MONDO:0005636 adenosarcoma skos:exactMatch mesh:D018195 semapv:UnspecifiedMatching MONDO:0005638 agnosia skos:exactMatch DOID:4090 agnosia semapv:UnspecifiedMatching MONDO:0005638 agnosia skos:exactMatch ICD10CM:R48.1 Agnosia semapv:UnspecifiedMatching MONDO:0005638 agnosia skos:exactMatch NCIT:C84542 Agnosia semapv:UnspecifiedMatching MONDO:0005638 agnosia skos:exactMatch SCTID:68345001 semapv:UnspecifiedMatching MONDO:0005638 agnosia skos:exactMatch mesh:D000377 semapv:UnspecifiedMatching MONDO:0005639 AIDS related complex skos:exactMatch UMLS:C0001857 semapv:UnspecifiedMatching MONDO:0005639 AIDS related complex skos:exactMatch mesh:D000386 semapv:UnspecifiedMatching MONDO:0005640 akinetic mutism skos:exactMatch DOID:4267 akinetic mutism semapv:UnspecifiedMatching MONDO:0005640 akinetic mutism skos:exactMatch SCTID:53333005 semapv:UnspecifiedMatching MONDO:0005640 akinetic mutism skos:exactMatch UMLS:C0001889 semapv:UnspecifiedMatching MONDO:0005640 akinetic mutism skos:exactMatch mesh:D000405 semapv:UnspecifiedMatching MONDO:0005641 aleutian mink disease skos:exactMatch DOID:2934 aleutian mink disease semapv:UnspecifiedMatching MONDO:0005641 aleutian mink disease skos:exactMatch SCTID:62251004 semapv:UnspecifiedMatching MONDO:0005641 aleutian mink disease skos:exactMatch UMLS:C0002016 semapv:UnspecifiedMatching MONDO:0005641 aleutian mink disease skos:exactMatch mesh:D000453 semapv:UnspecifiedMatching MONDO:0005642 atopic conjunctivitis skos:exactMatch DOID:11204 allergic conjunctivitis semapv:UnspecifiedMatching MONDO:0005642 atopic conjunctivitis skos:exactMatch NCIT:C34506 Atopic Conjunctivitis semapv:UnspecifiedMatching MONDO:0005642 atopic conjunctivitis skos:exactMatch SCTID:473460002 semapv:UnspecifiedMatching MONDO:0005642 atopic conjunctivitis skos:exactMatch UMLS:C0009766 semapv:UnspecifiedMatching MONDO:0005643 Alphavirus infectious disease skos:exactMatch UMLS:C0206752 semapv:UnspecifiedMatching MONDO:0005643 Alphavirus infectious disease skos:exactMatch mesh:D018354 semapv:UnspecifiedMatching MONDO:0005644 amebiasis skos:exactMatch DOID:9181 amebiasis semapv:UnspecifiedMatching MONDO:0005644 amebiasis skos:exactMatch NCIT:C84551 Amebiasis semapv:UnspecifiedMatching MONDO:0005644 amebiasis skos:exactMatch UMLS:C0002438 semapv:UnspecifiedMatching MONDO:0005644 amebiasis skos:exactMatch mesh:D000562 semapv:UnspecifiedMatching MONDO:0005645 ancylostomiasis skos:exactMatch DOID:12841 ancylostomiasis semapv:UnspecifiedMatching MONDO:0005645 ancylostomiasis skos:exactMatch NCIT:C35805 Ancylostomiasis semapv:UnspecifiedMatching MONDO:0005645 ancylostomiasis skos:exactMatch Orphanet:78 Ankylostomiasis semapv:UnspecifiedMatching MONDO:0005645 ancylostomiasis skos:exactMatch SCTID:63479002 semapv:UnspecifiedMatching MONDO:0005645 ancylostomiasis skos:exactMatch UMLS:C0002831 semapv:UnspecifiedMatching MONDO:0005645 ancylostomiasis skos:exactMatch mesh:D000724 semapv:UnspecifiedMatching MONDO:0005647 anogenital human papillomavirus infection skos:exactMatch DOID:11168 anogenital venereal wart semapv:UnspecifiedMatching MONDO:0005647 anogenital human papillomavirus infection skos:exactMatch NCIT:C4820 Anogenital Human Papillomavirus Infection semapv:UnspecifiedMatching MONDO:0005647 anogenital human papillomavirus infection skos:exactMatch SCTID:266113007 semapv:UnspecifiedMatching MONDO:0005647 anogenital human papillomavirus infection skos:exactMatch mesh:D003218 semapv:UnspecifiedMatching MONDO:0005648 aortic valve insufficiency skos:exactMatch DOID:57 aortic valve insufficiency semapv:UnspecifiedMatching MONDO:0005648 aortic valve insufficiency skos:exactMatch ICD10CM:I06.1 Rheumatic aortic insufficiency semapv:UnspecifiedMatching MONDO:0005648 aortic valve insufficiency skos:exactMatch NCIT:C51223 Aortic Valve Insufficiency semapv:UnspecifiedMatching MONDO:0005648 aortic valve insufficiency skos:exactMatch SCTID:78031003 semapv:UnspecifiedMatching MONDO:0005648 aortic valve insufficiency skos:exactMatch UMLS:C0003504 semapv:UnspecifiedMatching MONDO:0005648 aortic valve insufficiency skos:exactMatch UMLS:C0155568 semapv:UnspecifiedMatching MONDO:0005648 aortic valve insufficiency skos:exactMatch mesh:D001022 semapv:UnspecifiedMatching MONDO:0005649 appendicitis skos:exactMatch DOID:8337 appendicitis semapv:UnspecifiedMatching MONDO:0005649 appendicitis skos:exactMatch NCIT:C35145 Appendicitis semapv:UnspecifiedMatching MONDO:0005649 appendicitis skos:exactMatch SCTID:74400008 semapv:UnspecifiedMatching MONDO:0005649 appendicitis skos:exactMatch UMLS:C0003615 semapv:UnspecifiedMatching MONDO:0005649 appendicitis skos:exactMatch mesh:D001064 semapv:UnspecifiedMatching MONDO:0005650 Arenaviridae infectious disease skos:exactMatch DOID:3944 Arenaviridae infectious disease semapv:UnspecifiedMatching MONDO:0005650 Arenaviridae infectious disease skos:exactMatch SCTID:3303004 semapv:UnspecifiedMatching MONDO:0005650 Arenaviridae infectious disease skos:exactMatch mesh:D001117 semapv:UnspecifiedMatching MONDO:0005651 arenavirus hemorrhagic fever skos:exactMatch SCTID:73730005 semapv:UnspecifiedMatching MONDO:0005651 arenavirus hemorrhagic fever skos:exactMatch UMLS:C0153112 semapv:UnspecifiedMatching MONDO:0005652 Arterivirus infectious disease skos:exactMatch UMLS:C0206604 semapv:UnspecifiedMatching MONDO:0005652 Arterivirus infectious disease skos:exactMatch mesh:D018174 semapv:UnspecifiedMatching MONDO:0005654 ascariasis skos:exactMatch DOID:456 ascariasis semapv:UnspecifiedMatching MONDO:0005654 ascariasis skos:exactMatch ICD10CM:B77 Ascariasis semapv:UnspecifiedMatching MONDO:0005654 ascariasis skos:exactMatch NCIT:C128392 Ascariasis semapv:UnspecifiedMatching MONDO:0005654 ascariasis skos:exactMatch SCTID:2435008 semapv:UnspecifiedMatching MONDO:0005654 ascariasis skos:exactMatch UMLS:C0003950 semapv:UnspecifiedMatching MONDO:0005654 ascariasis skos:exactMatch mesh:D001196 semapv:UnspecifiedMatching MONDO:0005655 ascaridiasis skos:exactMatch DOID:3108 ascaridiasis semapv:UnspecifiedMatching MONDO:0005655 ascaridiasis skos:exactMatch SCTID:76160002 semapv:UnspecifiedMatching MONDO:0005655 ascaridiasis skos:exactMatch UMLS:C0003952 semapv:UnspecifiedMatching MONDO:0005655 ascaridiasis skos:exactMatch mesh:D001198 semapv:UnspecifiedMatching MONDO:0005656 Ascaridida infectious disease skos:exactMatch mesh:D017191 semapv:UnspecifiedMatching MONDO:0005657 aspergillosis skos:exactMatch DOID:13564 aspergillosis semapv:UnspecifiedMatching MONDO:0005657 aspergillosis skos:exactMatch ICD10CM:B44 Aspergillosis semapv:UnspecifiedMatching MONDO:0005657 aspergillosis skos:exactMatch NCIT:C2886 Aspergillosis semapv:UnspecifiedMatching MONDO:0005657 aspergillosis skos:exactMatch Orphanet:1163 Aspergillosis semapv:UnspecifiedMatching MONDO:0005657 aspergillosis skos:exactMatch SCTID:65553006 semapv:UnspecifiedMatching MONDO:0005657 aspergillosis skos:exactMatch UMLS:C0004030 semapv:UnspecifiedMatching MONDO:0005657 aspergillosis skos:exactMatch mesh:D001228 semapv:UnspecifiedMatching MONDO:0005658 Astroviridae infectious disease skos:exactMatch UMLS:C0376550 semapv:UnspecifiedMatching MONDO:0005658 Astroviridae infectious disease skos:exactMatch mesh:D019350 semapv:UnspecifiedMatching MONDO:0005659 atrophic rhinitis skos:exactMatch DOID:4731 atrophic rhinitis semapv:UnspecifiedMatching MONDO:0005659 atrophic rhinitis skos:exactMatch SCTID:69646003 semapv:UnspecifiedMatching MONDO:0005659 atrophic rhinitis skos:exactMatch UMLS:C0035459 semapv:UnspecifiedMatching MONDO:0005659 atrophic rhinitis skos:exactMatch mesh:D012222 semapv:UnspecifiedMatching MONDO:0005660 Avulavirus infectious disease skos:exactMatch UMLS:C1258034 semapv:UnspecifiedMatching MONDO:0005660 Avulavirus infectious disease skos:exactMatch mesh:D045463 semapv:UnspecifiedMatching MONDO:0005661 babesiosis skos:exactMatch DOID:9643 babesiosis semapv:UnspecifiedMatching MONDO:0005661 babesiosis skos:exactMatch ICD10CM:B60.0 Babesiosis semapv:UnspecifiedMatching MONDO:0005661 babesiosis skos:exactMatch NCIT:C84581 Babesiosis semapv:UnspecifiedMatching MONDO:0005661 babesiosis skos:exactMatch Orphanet:108 Babesiosis semapv:UnspecifiedMatching MONDO:0005661 babesiosis skos:exactMatch SCTID:21061004 semapv:UnspecifiedMatching MONDO:0005661 babesiosis skos:exactMatch UMLS:C0004576 semapv:UnspecifiedMatching MONDO:0005661 babesiosis skos:exactMatch mesh:D001404 semapv:UnspecifiedMatching MONDO:0005662 balantidiasis skos:exactMatch DOID:12386 balantidiasis semapv:UnspecifiedMatching MONDO:0005662 balantidiasis skos:exactMatch ICD10CM:A07.0 Balantidiasis semapv:UnspecifiedMatching MONDO:0005662 balantidiasis skos:exactMatch NCIT:C84583 Balantidiasis semapv:UnspecifiedMatching MONDO:0005662 balantidiasis skos:exactMatch Orphanet:1223 Balantidiasis semapv:UnspecifiedMatching MONDO:0005662 balantidiasis skos:exactMatch SCTID:57725006 semapv:UnspecifiedMatching MONDO:0005662 balantidiasis skos:exactMatch UMLS:C0004692 semapv:UnspecifiedMatching MONDO:0005662 balantidiasis skos:exactMatch mesh:D001447 semapv:UnspecifiedMatching MONDO:0005663 Barre-Lieou syndrome skos:exactMatch DOID:6692 Barre-Lieou syndrome semapv:UnspecifiedMatching MONDO:0005663 Barre-Lieou syndrome skos:exactMatch ICD10CM:M53.0 Cervicocranial syndrome semapv:UnspecifiedMatching MONDO:0005663 Barre-Lieou syndrome skos:exactMatch NCIT:C34411 Cervicocranial Syndrome semapv:UnspecifiedMatching MONDO:0005663 Barre-Lieou syndrome skos:exactMatch SCTID:17300000 semapv:UnspecifiedMatching MONDO:0005663 Barre-Lieou syndrome skos:exactMatch UMLS:C0376378 semapv:UnspecifiedMatching MONDO:0005663 Barre-Lieou syndrome skos:exactMatch mesh:D055010 semapv:UnspecifiedMatching MONDO:0005664 bartonellosis skos:exactMatch DOID:11102 bartonellosis semapv:UnspecifiedMatching MONDO:0005664 bartonellosis skos:exactMatch ICD10CM:A44 Bartonellosis semapv:UnspecifiedMatching MONDO:0005664 bartonellosis skos:exactMatch NCIT:C84586 Bartonella Infection semapv:UnspecifiedMatching MONDO:0005664 bartonellosis skos:exactMatch SCTID:266123003 semapv:UnspecifiedMatching MONDO:0005664 bartonellosis skos:exactMatch UMLS:C0004771 semapv:UnspecifiedMatching MONDO:0005664 bartonellosis skos:exactMatch mesh:D001474 semapv:UnspecifiedMatching MONDO:0005665 Bell's palsy skos:exactMatch DOID:12506 Bell's palsy semapv:UnspecifiedMatching MONDO:0005665 Bell's palsy skos:exactMatch ICD10CM:G51.0 Bell's palsy semapv:UnspecifiedMatching MONDO:0005665 Bell's palsy skos:exactMatch NCIT:C26769 Cranial Nerve VII Palsy semapv:UnspecifiedMatching MONDO:0005665 Bell's palsy skos:exactMatch SCTID:193093009 semapv:UnspecifiedMatching MONDO:0005665 Bell's palsy skos:exactMatch UMLS:C0376175 semapv:UnspecifiedMatching MONDO:0005665 Bell's palsy skos:exactMatch mesh:D020330 semapv:UnspecifiedMatching MONDO:0005667 biliary dyskinesia skos:exactMatch DOID:4140 biliary dyskinesia semapv:UnspecifiedMatching MONDO:0005667 biliary dyskinesia skos:exactMatch SCTID:197432008 semapv:UnspecifiedMatching MONDO:0005667 biliary dyskinesia skos:exactMatch UMLS:C0005416 semapv:UnspecifiedMatching MONDO:0005667 biliary dyskinesia skos:exactMatch mesh:D001657 semapv:UnspecifiedMatching MONDO:0005668 bird fancier's lung skos:exactMatch DOID:13891 bird fancier's lung semapv:UnspecifiedMatching MONDO:0005668 bird fancier's lung skos:exactMatch ICD10CM:J67.2 Bird fancier's lung semapv:UnspecifiedMatching MONDO:0005668 bird fancier's lung skos:exactMatch NCIT:C34425 Bird Fancier's Lung semapv:UnspecifiedMatching MONDO:0005668 bird fancier's lung skos:exactMatch Orphanet:99908 Pigeon-breeder lung disease semapv:UnspecifiedMatching MONDO:0005668 bird fancier's lung skos:exactMatch SCTID:69339004 semapv:UnspecifiedMatching MONDO:0005668 bird fancier's lung skos:exactMatch UMLS:C0005592 semapv:UnspecifiedMatching MONDO:0005668 bird fancier's lung skos:exactMatch mesh:D001716 semapv:UnspecifiedMatching MONDO:0005669 black piedra skos:exactMatch DOID:12711 black piedra semapv:UnspecifiedMatching MONDO:0005669 black piedra skos:exactMatch ICD10CM:B36.3 Black piedra semapv:UnspecifiedMatching MONDO:0005669 black piedra skos:exactMatch SCTID:33666009 semapv:UnspecifiedMatching MONDO:0005669 black piedra skos:exactMatch UMLS:C0153249 semapv:UnspecifiedMatching MONDO:0005670 blackwater fever skos:exactMatch DOID:14068 blackwater fever semapv:UnspecifiedMatching MONDO:0005670 blackwater fever skos:exactMatch NCIT:C34426 Blackwater Fever semapv:UnspecifiedMatching MONDO:0005670 blackwater fever skos:exactMatch SCTID:56625005 semapv:UnspecifiedMatching MONDO:0005670 blackwater fever skos:exactMatch UMLS:C0005681 semapv:UnspecifiedMatching MONDO:0005670 blackwater fever skos:exactMatch mesh:D001742 semapv:UnspecifiedMatching MONDO:0005671 Blastocystis infectious disease skos:exactMatch SCTID:721809007 semapv:UnspecifiedMatching MONDO:0005671 Blastocystis infectious disease skos:exactMatch mesh:D016776 semapv:UnspecifiedMatching MONDO:0005672 blastomycosis skos:exactMatch DOID:12663 blastomycosis semapv:UnspecifiedMatching MONDO:0005672 blastomycosis skos:exactMatch ICD10CM:B40 Blastomycosis semapv:UnspecifiedMatching MONDO:0005672 blastomycosis skos:exactMatch NCIT:C34428 Blastomycosis semapv:UnspecifiedMatching MONDO:0005672 blastomycosis skos:exactMatch NCIT:C34429 North American Blastomycosis semapv:UnspecifiedMatching MONDO:0005672 blastomycosis skos:exactMatch SCTID:191950004 semapv:UnspecifiedMatching MONDO:0005672 blastomycosis skos:exactMatch UMLS:C0005716 semapv:UnspecifiedMatching MONDO:0005672 blastomycosis skos:exactMatch mesh:D001759 semapv:UnspecifiedMatching MONDO:0005673 blind loop syndrome skos:exactMatch DOID:10606 blind loop syndrome semapv:UnspecifiedMatching MONDO:0005673 blind loop syndrome skos:exactMatch NCIT:C34431 Blind Loop Syndrome semapv:UnspecifiedMatching MONDO:0005673 blind loop syndrome skos:exactMatch SCTID:66379009 semapv:UnspecifiedMatching MONDO:0005673 blind loop syndrome skos:exactMatch UMLS:C0005750 semapv:UnspecifiedMatching MONDO:0005673 blind loop syndrome skos:exactMatch mesh:D001765 semapv:UnspecifiedMatching MONDO:0005674 bone giant cell tumor skos:exactMatch DOID:4305 bone giant cell tumor semapv:UnspecifiedMatching MONDO:0005674 bone giant cell tumor skos:exactMatch NCIT:C121932 Giant Cell Tumor of Bone semapv:UnspecifiedMatching MONDO:0005674 bone giant cell tumor skos:exactMatch Orphanet:363976 Giant cell tumor of bone semapv:UnspecifiedMatching MONDO:0005674 bone giant cell tumor skos:exactMatch SCTID:697970009 semapv:UnspecifiedMatching MONDO:0005674 bone giant cell tumor skos:exactMatch UMLS:C0206638 semapv:UnspecifiedMatching MONDO:0005674 bone giant cell tumor skos:exactMatch mesh:D018212 semapv:UnspecifiedMatching MONDO:0005675 border disease skos:exactMatch UMLS:C0006008 semapv:UnspecifiedMatching MONDO:0005675 border disease skos:exactMatch mesh:D001882 semapv:UnspecifiedMatching MONDO:0005676 borna disease skos:exactMatch DOID:5154 borna disease semapv:UnspecifiedMatching MONDO:0005676 borna disease skos:exactMatch UMLS:C0006023 semapv:UnspecifiedMatching MONDO:0005676 borna disease skos:exactMatch mesh:D001890 semapv:UnspecifiedMatching MONDO:0005678 bovine respiratory disease complex skos:exactMatch UMLS:C1449809 semapv:UnspecifiedMatching MONDO:0005678 bovine respiratory disease complex skos:exactMatch mesh:D048090 semapv:UnspecifiedMatching MONDO:0005679 bovine virus diarrhea-mucosal disease skos:exactMatch UMLS:C0006075 semapv:UnspecifiedMatching MONDO:0005679 bovine virus diarrhea-mucosal disease skos:exactMatch UMLS:C0950112 semapv:UnspecifiedMatching MONDO:0005679 bovine virus diarrhea-mucosal disease skos:exactMatch mesh:D001912 semapv:UnspecifiedMatching MONDO:0005679 bovine virus diarrhea-mucosal disease skos:exactMatch mesh:D030243 semapv:UnspecifiedMatching MONDO:0005680 Brill-Zinsser disease skos:exactMatch DOID:11254 Brill-Zinsser disease semapv:UnspecifiedMatching MONDO:0005680 Brill-Zinsser disease skos:exactMatch Orphanet:99990 Brill-Zinsser disease semapv:UnspecifiedMatching MONDO:0005680 Brill-Zinsser disease skos:exactMatch SCTID:47761007 semapv:UnspecifiedMatching MONDO:0005680 Brill-Zinsser disease skos:exactMatch UMLS:C0006181 semapv:UnspecifiedMatching MONDO:0005682 bronchopneumonia skos:exactMatch DOID:12375 bronchopneumonia semapv:UnspecifiedMatching MONDO:0005682 bronchopneumonia skos:exactMatch NCIT:C26710 Bronchopneumonia semapv:UnspecifiedMatching MONDO:0005682 bronchopneumonia skos:exactMatch SCTID:396285007 semapv:UnspecifiedMatching MONDO:0005682 bronchopneumonia skos:exactMatch UMLS:C0006285 semapv:UnspecifiedMatching MONDO:0005682 bronchopneumonia skos:exactMatch mesh:D001996 semapv:UnspecifiedMatching MONDO:0005683 brucellosis skos:exactMatch DOID:11077 brucellosis semapv:UnspecifiedMatching MONDO:0005683 brucellosis skos:exactMatch ICD10CM:A23 Brucellosis semapv:UnspecifiedMatching MONDO:0005683 brucellosis skos:exactMatch NCIT:C84602 Brucellosis semapv:UnspecifiedMatching MONDO:0005683 brucellosis skos:exactMatch Orphanet:1304 Brucellosis semapv:UnspecifiedMatching MONDO:0005683 brucellosis skos:exactMatch SCTID:75702008 semapv:UnspecifiedMatching MONDO:0005683 brucellosis skos:exactMatch UMLS:C0006309 semapv:UnspecifiedMatching MONDO:0005683 brucellosis skos:exactMatch mesh:D002006 semapv:UnspecifiedMatching MONDO:0005684 bulbar polio skos:exactMatch DOID:9786 bulbar polio semapv:UnspecifiedMatching MONDO:0005684 bulbar polio skos:exactMatch UMLS:C0032372 semapv:UnspecifiedMatching MONDO:0005684 bulbar polio skos:exactMatch mesh:D011052 semapv:UnspecifiedMatching MONDO:0005687 Caliciviridae infectious disease skos:exactMatch mesh:D017250 semapv:UnspecifiedMatching MONDO:0005688 campylobacteriosis skos:exactMatch DOID:13622 campylobacteriosis semapv:UnspecifiedMatching MONDO:0005688 campylobacteriosis skos:exactMatch SCTID:86500004 semapv:UnspecifiedMatching MONDO:0005688 campylobacteriosis skos:exactMatch UMLS:C0006818 semapv:UnspecifiedMatching MONDO:0005688 campylobacteriosis skos:exactMatch mesh:D002169 semapv:UnspecifiedMatching MONDO:0005689 cannabis dependence skos:exactMatch DOID:1849 cannabis dependence semapv:UnspecifiedMatching MONDO:0005689 cannabis dependence skos:exactMatch DOID:9505 cannabis abuse semapv:UnspecifiedMatching MONDO:0005689 cannabis dependence skos:exactMatch NCIT:C34445 Cannabis Dependence semapv:UnspecifiedMatching MONDO:0005689 cannabis dependence skos:exactMatch SCTID:37344009 semapv:UnspecifiedMatching MONDO:0005689 cannabis dependence skos:exactMatch SCTID:85005007 semapv:UnspecifiedMatching MONDO:0005689 cannabis dependence skos:exactMatch mesh:D002189 semapv:UnspecifiedMatching MONDO:0005690 Caplan syndrome skos:exactMatch DOID:10326 Caplan's syndrome semapv:UnspecifiedMatching MONDO:0005690 Caplan syndrome skos:exactMatch SCTID:398640008 semapv:UnspecifiedMatching MONDO:0005690 Caplan syndrome skos:exactMatch UMLS:C0006915 semapv:UnspecifiedMatching MONDO:0005690 Caplan syndrome skos:exactMatch mesh:D002205 semapv:UnspecifiedMatching MONDO:0005691 cardiovirus infectious disease skos:exactMatch UMLS:C0206617 semapv:UnspecifiedMatching MONDO:0005691 cardiovirus infectious disease skos:exactMatch mesh:D018188 semapv:UnspecifiedMatching MONDO:0005692 cat-scratch disease skos:exactMatch DOID:11258 cat-scratch disease semapv:UnspecifiedMatching MONDO:0005692 cat-scratch disease skos:exactMatch ICD10CM:A28.1 Cat-scratch disease semapv:UnspecifiedMatching MONDO:0005692 cat-scratch disease skos:exactMatch NCIT:C84620 Cat-Scratch Disease semapv:UnspecifiedMatching MONDO:0005692 cat-scratch disease skos:exactMatch Orphanet:50839 Cat-scratch disease semapv:UnspecifiedMatching MONDO:0005692 cat-scratch disease skos:exactMatch SCTID:79974007 semapv:UnspecifiedMatching MONDO:0005692 cat-scratch disease skos:exactMatch UMLS:C0007361 semapv:UnspecifiedMatching MONDO:0005692 cat-scratch disease skos:exactMatch mesh:D002372 semapv:UnspecifiedMatching MONDO:0005693 cauda equina syndrome skos:exactMatch DOID:11577 Cauda equina syndrome semapv:UnspecifiedMatching MONDO:0005693 cauda equina syndrome skos:exactMatch ICD10CM:G83.4 Cauda equina syndrome semapv:UnspecifiedMatching MONDO:0005693 cauda equina syndrome skos:exactMatch NCIT:C35436 Cauda Equina Syndrome semapv:UnspecifiedMatching MONDO:0005693 cauda equina syndrome skos:exactMatch SCTID:192970008 semapv:UnspecifiedMatching MONDO:0005693 cauda equina syndrome skos:exactMatch UMLS:C0392548 semapv:UnspecifiedMatching MONDO:0005693 cauda equina syndrome skos:exactMatch mesh:D000077684 semapv:UnspecifiedMatching MONDO:0005694 cecal neoplasm skos:exactMatch DOID:1517 cecal benign neoplasm semapv:UnspecifiedMatching MONDO:0005694 cecal neoplasm skos:exactMatch NCIT:C4433 Cecum Neoplasm semapv:UnspecifiedMatching MONDO:0005694 cecal neoplasm skos:exactMatch SCTID:126839008 semapv:UnspecifiedMatching MONDO:0005694 cecal neoplasm skos:exactMatch UMLS:C0007528 semapv:UnspecifiedMatching MONDO:0005694 cecal neoplasm skos:exactMatch mesh:D002430 semapv:UnspecifiedMatching MONDO:0005695 central nervous system AIDS arteritis skos:exactMatch mesh:D020943 semapv:UnspecifiedMatching MONDO:0005696 central nervous system tuberculosis skos:exactMatch DOID:1638 central nervous system tuberculosis semapv:UnspecifiedMatching MONDO:0005696 central nervous system tuberculosis skos:exactMatch Orphanet:641396 Central nervous system tuberculosis semapv:UnspecifiedMatching MONDO:0005696 central nervous system tuberculosis skos:exactMatch SCTID:186217006 semapv:UnspecifiedMatching MONDO:0005696 central nervous system tuberculosis skos:exactMatch UMLS:C0275904 semapv:UnspecifiedMatching MONDO:0005697 cerebral toxoplasmosis skos:exactMatch SCTID:192701001 semapv:UnspecifiedMatching MONDO:0005697 cerebral toxoplasmosis skos:exactMatch mesh:D016781 semapv:UnspecifiedMatching MONDO:0005698 cervical incompetence skos:exactMatch DOID:9681 cervical incompetence semapv:UnspecifiedMatching MONDO:0005698 cervical incompetence skos:exactMatch SCTID:17382005 semapv:UnspecifiedMatching MONDO:0005698 cervical incompetence skos:exactMatch mesh:D002581 semapv:UnspecifiedMatching MONDO:0005699 cervicofacial actinomycosis skos:exactMatch ICD10CM:A42.2 Cervicofacial actinomycosis semapv:UnspecifiedMatching MONDO:0005699 cervicofacial actinomycosis skos:exactMatch NCIT:C34351 Cervicofacial Actinomycotic Infection semapv:UnspecifiedMatching MONDO:0005699 cervicofacial actinomycosis skos:exactMatch SCTID:23014006 semapv:UnspecifiedMatching MONDO:0005699 cervicofacial actinomycosis skos:exactMatch UMLS:C0001264 semapv:UnspecifiedMatching MONDO:0005699 cervicofacial actinomycosis skos:exactMatch mesh:D000197 semapv:UnspecifiedMatching MONDO:0005700 chickenpox skos:exactMatch DOID:8659 chickenpox semapv:UnspecifiedMatching MONDO:0005700 chickenpox skos:exactMatch NCIT:C97132 Chicken Pox semapv:UnspecifiedMatching MONDO:0005700 chickenpox skos:exactMatch SCTID:38907003 semapv:UnspecifiedMatching MONDO:0005700 chickenpox skos:exactMatch UMLS:C0008049 semapv:UnspecifiedMatching MONDO:0005700 chickenpox skos:exactMatch mesh:D002644 semapv:UnspecifiedMatching MONDO:0005701 chlamydia trachomatis infectious disease skos:exactMatch DOID:11263 chlamydia semapv:UnspecifiedMatching MONDO:0005701 chlamydia trachomatis infectious disease skos:exactMatch NCIT:C34463 Chlamydial Infection semapv:UnspecifiedMatching MONDO:0005701 chlamydia trachomatis infectious disease skos:exactMatch SCTID:105629000 semapv:UnspecifiedMatching MONDO:0005704 Ciliophora infectious disease skos:exactMatch UMLS:C0085308 semapv:UnspecifiedMatching MONDO:0005704 Ciliophora infectious disease skos:exactMatch mesh:D016770 semapv:UnspecifiedMatching MONDO:0005705 clonorchiasis skos:exactMatch DOID:13767 clonorchiasis semapv:UnspecifiedMatching MONDO:0005705 clonorchiasis skos:exactMatch ICD10CM:B66.1 Clonorchiasis semapv:UnspecifiedMatching MONDO:0005705 clonorchiasis skos:exactMatch SCTID:11938002 semapv:UnspecifiedMatching MONDO:0005705 clonorchiasis skos:exactMatch UMLS:C0009021 semapv:UnspecifiedMatching MONDO:0005705 clonorchiasis skos:exactMatch mesh:D003003 semapv:UnspecifiedMatching MONDO:0005706 coccidioidomycosis skos:exactMatch DOID:13450 coccidioidomycosis semapv:UnspecifiedMatching MONDO:0005706 coccidioidomycosis skos:exactMatch ICD10CM:B38 Coccidioidomycosis semapv:UnspecifiedMatching MONDO:0005706 coccidioidomycosis skos:exactMatch NCIT:C84642 Coccidioidomycosis semapv:UnspecifiedMatching MONDO:0005706 coccidioidomycosis skos:exactMatch Orphanet:228123 Coccidioidomycosis semapv:UnspecifiedMatching MONDO:0005706 coccidioidomycosis skos:exactMatch SCTID:23247008 semapv:UnspecifiedMatching MONDO:0005706 coccidioidomycosis skos:exactMatch UMLS:C0009186 semapv:UnspecifiedMatching MONDO:0005706 coccidioidomycosis skos:exactMatch mesh:D003047 semapv:UnspecifiedMatching MONDO:0005707 coccidiosis skos:exactMatch DOID:2113 coccidiosis semapv:UnspecifiedMatching MONDO:0005707 coccidiosis skos:exactMatch NCIT:C34493 Coccidiosis semapv:UnspecifiedMatching MONDO:0005707 coccidiosis skos:exactMatch SCTID:62005008 semapv:UnspecifiedMatching MONDO:0005707 coccidiosis skos:exactMatch UMLS:C0009187 semapv:UnspecifiedMatching MONDO:0005707 coccidiosis skos:exactMatch mesh:D003048 semapv:UnspecifiedMatching MONDO:0005708 Colorado tick fever skos:exactMatch DOID:4885 Colorado tick fever semapv:UnspecifiedMatching MONDO:0005708 Colorado tick fever skos:exactMatch ICD10CM:A93.2 Colorado tick fever semapv:UnspecifiedMatching MONDO:0005708 Colorado tick fever skos:exactMatch Orphanet:83595 Colorado tick fever semapv:UnspecifiedMatching MONDO:0005708 Colorado tick fever skos:exactMatch SCTID:6452009 semapv:UnspecifiedMatching MONDO:0005708 Colorado tick fever skos:exactMatch UMLS:C0009400 semapv:UnspecifiedMatching MONDO:0005708 Colorado tick fever skos:exactMatch mesh:D003121 semapv:UnspecifiedMatching MONDO:0005709 common cold skos:exactMatch DOID:10459 common cold semapv:UnspecifiedMatching MONDO:0005709 common cold skos:exactMatch NCIT:C34500 Acute Nasopharyngitis semapv:UnspecifiedMatching MONDO:0005709 common cold skos:exactMatch SCTID:82272006 semapv:UnspecifiedMatching MONDO:0005709 common cold skos:exactMatch UMLS:C0009443 semapv:UnspecifiedMatching MONDO:0005709 common cold skos:exactMatch mesh:D003139 semapv:UnspecifiedMatching MONDO:0005710 composite lymphoma skos:exactMatch DOID:5820 composite lymphoma semapv:UnspecifiedMatching MONDO:0005710 composite lymphoma skos:exactMatch NCIT:C38661 Composite Lymphoma semapv:UnspecifiedMatching MONDO:0005710 composite lymphoma skos:exactMatch Orphanet:168966 Composite lymphoma semapv:UnspecifiedMatching MONDO:0005710 composite lymphoma skos:exactMatch UMLS:C0545080 semapv:UnspecifiedMatching MONDO:0005710 composite lymphoma skos:exactMatch mesh:D058617 semapv:UnspecifiedMatching MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch DOID:3827 congenital diaphragmatic hernia semapv:UnspecifiedMatching MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch NCIT:C98893 Congenital Diaphragmatic Hernia semapv:UnspecifiedMatching MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch OMIMPS:142340 semapv:UnspecifiedMatching MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:UnspecifiedMatching MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch UMLS:C0235833 semapv:UnspecifiedMatching MONDO:0005712 congenital nystagmus skos:exactMatch DOID:9649 congenital nystagmus semapv:UnspecifiedMatching MONDO:0005712 congenital nystagmus skos:exactMatch ICD10CM:H55.01 Congenital nystagmus semapv:UnspecifiedMatching MONDO:0005712 congenital nystagmus skos:exactMatch OMIMPS:310700 semapv:UnspecifiedMatching MONDO:0005712 congenital nystagmus skos:exactMatch SCTID:64635004 semapv:UnspecifiedMatching MONDO:0005712 congenital nystagmus skos:exactMatch mesh:D020417 semapv:UnspecifiedMatching MONDO:0005714 congenital syphilis skos:exactMatch DOID:9856 congenital syphilis semapv:UnspecifiedMatching MONDO:0005714 congenital syphilis skos:exactMatch ICD10CM:A50 Congenital syphilis semapv:UnspecifiedMatching MONDO:0005714 congenital syphilis skos:exactMatch NCIT:C84649 Congenital Syphilis semapv:UnspecifiedMatching MONDO:0005714 congenital syphilis skos:exactMatch Orphanet:499009 Congenital syphilis semapv:UnspecifiedMatching MONDO:0005714 congenital syphilis skos:exactMatch SCTID:35742006 semapv:UnspecifiedMatching MONDO:0005714 congenital syphilis skos:exactMatch UMLS:C0039131 semapv:UnspecifiedMatching MONDO:0005714 congenital syphilis skos:exactMatch mesh:D013590 semapv:UnspecifiedMatching MONDO:0005715 congenital toxoplasmosis skos:exactMatch DOID:13336 congenital toxoplasmosis semapv:UnspecifiedMatching MONDO:0005715 congenital toxoplasmosis skos:exactMatch ICD10CM:P37.1 Congenital toxoplasmosis semapv:UnspecifiedMatching MONDO:0005715 congenital toxoplasmosis skos:exactMatch NCIT:C50503 Congenital Toxoplasmosis semapv:UnspecifiedMatching MONDO:0005715 congenital toxoplasmosis skos:exactMatch Orphanet:858 Congenital toxoplasmosis semapv:UnspecifiedMatching MONDO:0005715 congenital toxoplasmosis skos:exactMatch SCTID:73893000 semapv:UnspecifiedMatching MONDO:0005715 congenital toxoplasmosis skos:exactMatch UMLS:C0040560 semapv:UnspecifiedMatching MONDO:0005715 congenital toxoplasmosis skos:exactMatch mesh:D014125 semapv:UnspecifiedMatching MONDO:0005716 contagious pleuropneumonia skos:exactMatch UMLS:C0032243 semapv:UnspecifiedMatching MONDO:0005716 contagious pleuropneumonia skos:exactMatch mesh:D011002 semapv:UnspecifiedMatching MONDO:0005717 contagious pustular dermatitis skos:exactMatch DOID:8771 contagious pustular dermatitis semapv:UnspecifiedMatching MONDO:0005717 contagious pustular dermatitis skos:exactMatch SCTID:74050005 semapv:UnspecifiedMatching MONDO:0005717 contagious pustular dermatitis skos:exactMatch UMLS:C0013570 semapv:UnspecifiedMatching MONDO:0005717 contagious pustular dermatitis skos:exactMatch mesh:D004474 semapv:UnspecifiedMatching MONDO:0005718 Coronaviridae infectious disease skos:exactMatch UMLS:C0010078 semapv:UnspecifiedMatching MONDO:0005719 Coronavinae infectious disease skos:exactMatch mesh:D018352 semapv:UnspecifiedMatching MONDO:0005720 cowpox skos:exactMatch DOID:8956 cowpox semapv:UnspecifiedMatching MONDO:0005720 cowpox skos:exactMatch ICD10CM:B08.010 Cowpox semapv:UnspecifiedMatching MONDO:0005720 cowpox skos:exactMatch SCTID:70090004 semapv:UnspecifiedMatching MONDO:0005720 cowpox skos:exactMatch UMLS:C0010232 semapv:UnspecifiedMatching MONDO:0005720 cowpox skos:exactMatch mesh:D015605 semapv:UnspecifiedMatching MONDO:0005721 coxsackievirus infectious disease skos:exactMatch UMLS:C0010246 semapv:UnspecifiedMatching MONDO:0005721 coxsackievirus infectious disease skos:exactMatch mesh:D003384 semapv:UnspecifiedMatching MONDO:0005722 croup skos:exactMatch DOID:9395 croup semapv:UnspecifiedMatching MONDO:0005722 croup skos:exactMatch NCIT:C26735 Croup semapv:UnspecifiedMatching MONDO:0005722 croup skos:exactMatch SCTID:71186008 semapv:UnspecifiedMatching MONDO:0005722 croup skos:exactMatch UMLS:C0010380 semapv:UnspecifiedMatching MONDO:0005722 croup skos:exactMatch mesh:D003440 semapv:UnspecifiedMatching MONDO:0005723 Cryptococcal meningitis skos:exactMatch DOID:0080159 Cryptococcal meningitis semapv:UnspecifiedMatching MONDO:0005723 Cryptococcal meningitis skos:exactMatch NCIT:C174113 Cryptococcal Meningitis semapv:UnspecifiedMatching MONDO:0005723 Cryptococcal meningitis skos:exactMatch SCTID:14232007 semapv:UnspecifiedMatching MONDO:0005723 Cryptococcal meningitis skos:exactMatch mesh:D016919 semapv:UnspecifiedMatching MONDO:0005724 cryptococcosis skos:exactMatch DOID:12053 cryptococcosis semapv:UnspecifiedMatching MONDO:0005724 cryptococcosis skos:exactMatch ICD10CM:B45 Cryptococcosis semapv:UnspecifiedMatching MONDO:0005724 cryptococcosis skos:exactMatch NCIT:C2967 Cryptococcosis semapv:UnspecifiedMatching MONDO:0005724 cryptococcosis skos:exactMatch Orphanet:1546 Cryptococcosis semapv:UnspecifiedMatching MONDO:0005724 cryptococcosis skos:exactMatch SCTID:42386007 semapv:UnspecifiedMatching MONDO:0005724 cryptococcosis skos:exactMatch UMLS:C0010414 semapv:UnspecifiedMatching MONDO:0005724 cryptococcosis skos:exactMatch mesh:D003453 semapv:UnspecifiedMatching MONDO:0005725 cyclosporiasis skos:exactMatch DOID:12750 cyclosporiasis semapv:UnspecifiedMatching MONDO:0005725 cyclosporiasis skos:exactMatch ICD10CM:A07.4 Cyclosporiasis semapv:UnspecifiedMatching MONDO:0005725 cyclosporiasis skos:exactMatch NCIT:C128409 Cyclosporiasis semapv:UnspecifiedMatching MONDO:0005725 cyclosporiasis skos:exactMatch Orphanet:210 Cyclosporiasis semapv:UnspecifiedMatching MONDO:0005725 cyclosporiasis skos:exactMatch SCTID:240372001 semapv:UnspecifiedMatching MONDO:0005725 cyclosporiasis skos:exactMatch SCTID:716860005 semapv:UnspecifiedMatching MONDO:0005725 cyclosporiasis skos:exactMatch UMLS:C0343398 semapv:UnspecifiedMatching MONDO:0005725 cyclosporiasis skos:exactMatch mesh:D021866 semapv:UnspecifiedMatching MONDO:0005728 diaphragm disorder skos:exactMatch DOID:10481 diaphragm disease semapv:UnspecifiedMatching MONDO:0005728 diaphragm disorder skos:exactMatch SCTID:48475001 semapv:UnspecifiedMatching MONDO:0005728 diaphragm disorder skos:exactMatch UMLS:C0152097 semapv:UnspecifiedMatching MONDO:0005729 dicrocoeliasis skos:exactMatch DOID:1219 dicrocoeliasis semapv:UnspecifiedMatching MONDO:0005729 dicrocoeliasis skos:exactMatch SCTID:105668007 semapv:UnspecifiedMatching MONDO:0005729 dicrocoeliasis skos:exactMatch UMLS:C0012102 semapv:UnspecifiedMatching MONDO:0005729 dicrocoeliasis skos:exactMatch mesh:D004011 semapv:UnspecifiedMatching MONDO:0005730 Dictyocaulus infectious disease skos:exactMatch UMLS:C0012118 semapv:UnspecifiedMatching MONDO:0005730 Dictyocaulus infectious disease skos:exactMatch mesh:D004022 semapv:UnspecifiedMatching MONDO:0005731 dipetalonemiasis skos:exactMatch DOID:14422 dipetalonemiasis semapv:UnspecifiedMatching MONDO:0005731 dipetalonemiasis skos:exactMatch NCIT:C34540 Dipetalonemiasis semapv:UnspecifiedMatching MONDO:0005731 dipetalonemiasis skos:exactMatch SCTID:15629006 semapv:UnspecifiedMatching MONDO:0005731 dipetalonemiasis skos:exactMatch UMLS:C0012517 semapv:UnspecifiedMatching MONDO:0005731 dipetalonemiasis skos:exactMatch mesh:D004154 semapv:UnspecifiedMatching MONDO:0005734 dourine skos:exactMatch SCTID:15566009 semapv:UnspecifiedMatching MONDO:0005734 dourine skos:exactMatch UMLS:C0013076 semapv:UnspecifiedMatching MONDO:0005734 dourine skos:exactMatch mesh:D004313 semapv:UnspecifiedMatching MONDO:0005736 eastern equine encephalitis skos:exactMatch DOID:10841 Eastern equine encephalitis semapv:UnspecifiedMatching MONDO:0005736 eastern equine encephalitis skos:exactMatch ICD10CM:A83.2 Eastern equine encephalitis semapv:UnspecifiedMatching MONDO:0005736 eastern equine encephalitis skos:exactMatch Orphanet:83594 Eastern equine encephalitis semapv:UnspecifiedMatching MONDO:0005736 eastern equine encephalitis skos:exactMatch UMLS:C0153065 semapv:UnspecifiedMatching MONDO:0005736 eastern equine encephalitis skos:exactMatch mesh:D020242 semapv:UnspecifiedMatching MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch DOID:4325 Ebola hemorrhagic fever semapv:UnspecifiedMatching MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch NCIT:C36171 Ebola Hemorrhagic Fever semapv:UnspecifiedMatching MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch Orphanet:319218 Ebola hemorrhagic fever semapv:UnspecifiedMatching MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch SCTID:37109004 semapv:UnspecifiedMatching MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch UMLS:C0282687 semapv:UnspecifiedMatching MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch mesh:D019142 semapv:UnspecifiedMatching MONDO:0005738 echinococcosis skos:exactMatch DOID:1496 echinococcosis semapv:UnspecifiedMatching MONDO:0005738 echinococcosis skos:exactMatch ICD10CM:B67 Echinococcosis semapv:UnspecifiedMatching MONDO:0005738 echinococcosis skos:exactMatch NCIT:C84682 Echinococcosis semapv:UnspecifiedMatching MONDO:0005738 echinococcosis skos:exactMatch SCTID:74942003 semapv:UnspecifiedMatching MONDO:0005738 echinococcosis skos:exactMatch UMLS:C0013502 semapv:UnspecifiedMatching MONDO:0005738 echinococcosis skos:exactMatch mesh:D004443 semapv:UnspecifiedMatching MONDO:0005739 echinostomiasis skos:exactMatch DOID:1218 echinostomiasis semapv:UnspecifiedMatching MONDO:0005739 echinostomiasis skos:exactMatch SCTID:52918004 semapv:UnspecifiedMatching MONDO:0005739 echinostomiasis skos:exactMatch UMLS:C0013514 semapv:UnspecifiedMatching MONDO:0005739 echinostomiasis skos:exactMatch mesh:D004451 semapv:UnspecifiedMatching MONDO:0005740 Echovirus infectious disease skos:exactMatch SCTID:271532008 semapv:UnspecifiedMatching MONDO:0005740 Echovirus infectious disease skos:exactMatch UMLS:C0013533 semapv:UnspecifiedMatching MONDO:0005740 Echovirus infectious disease skos:exactMatch mesh:D004457 semapv:UnspecifiedMatching MONDO:0005741 obsolete egg allergy skos:exactMatch DOID:4377 egg allergy semapv:UnspecifiedMatching MONDO:0005741 obsolete egg allergy skos:exactMatch SCTID:91930004 semapv:UnspecifiedMatching MONDO:0005741 obsolete egg allergy skos:exactMatch UMLS:C0559469 semapv:UnspecifiedMatching MONDO:0005741 obsolete egg allergy skos:exactMatch mesh:D021181 semapv:UnspecifiedMatching MONDO:0005742 emphysematous cholecystitis skos:exactMatch DOID:9765 emphysematous cholecystitis semapv:UnspecifiedMatching MONDO:0005742 emphysematous cholecystitis skos:exactMatch NCIT:C35592 Emphysematous Cholecystitis semapv:UnspecifiedMatching MONDO:0005742 emphysematous cholecystitis skos:exactMatch SCTID:95558008 semapv:UnspecifiedMatching MONDO:0005742 emphysematous cholecystitis skos:exactMatch UMLS:C0521610 semapv:UnspecifiedMatching MONDO:0005742 emphysematous cholecystitis skos:exactMatch mesh:D041882 semapv:UnspecifiedMatching MONDO:0005743 encephalitozoonosis skos:exactMatch DOID:4270 encephalitozoonosis semapv:UnspecifiedMatching MONDO:0005743 encephalitozoonosis skos:exactMatch SCTID:12825006 semapv:UnspecifiedMatching MONDO:0005743 encephalitozoonosis skos:exactMatch UMLS:C0085412 semapv:UnspecifiedMatching MONDO:0005743 encephalitozoonosis skos:exactMatch mesh:D016890 semapv:UnspecifiedMatching MONDO:0005744 yolk sac tumor skos:exactMatch DOID:1911 endodermal sinus tumor semapv:UnspecifiedMatching MONDO:0005744 yolk sac tumor skos:exactMatch NCIT:C3011 Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0005744 yolk sac tumor skos:exactMatch Orphanet:876 Yolk sac tumor semapv:UnspecifiedMatching MONDO:0005744 yolk sac tumor skos:exactMatch SCTID:404081005 semapv:UnspecifiedMatching MONDO:0005744 yolk sac tumor skos:exactMatch UMLS:C0014145 semapv:UnspecifiedMatching MONDO:0005745 Enoplea infectious disease skos:exactMatch mesh:D017189 semapv:UnspecifiedMatching MONDO:0005746 enterobiasis skos:exactMatch DOID:7457 enterobiasis semapv:UnspecifiedMatching MONDO:0005746 enterobiasis skos:exactMatch ICD10CM:B80 Enterobiasis semapv:UnspecifiedMatching MONDO:0005746 enterobiasis skos:exactMatch NCIT:C128396 Enterobiasis semapv:UnspecifiedMatching MONDO:0005746 enterobiasis skos:exactMatch SCTID:266162007 semapv:UnspecifiedMatching MONDO:0005746 enterobiasis skos:exactMatch UMLS:C0086227 semapv:UnspecifiedMatching MONDO:0005746 enterobiasis skos:exactMatch mesh:D017229 semapv:UnspecifiedMatching MONDO:0005747 enterovirus infectious disease skos:exactMatch SCTID:53648006 semapv:UnspecifiedMatching MONDO:0005747 enterovirus infectious disease skos:exactMatch UMLS:C0014378 semapv:UnspecifiedMatching MONDO:0005747 enterovirus infectious disease skos:exactMatch mesh:D004769 semapv:UnspecifiedMatching MONDO:0005748 enzootic pneumonia of calves skos:exactMatch UMLS:C0276046 semapv:UnspecifiedMatching MONDO:0005748 enzootic pneumonia of calves skos:exactMatch mesh:D048089 semapv:UnspecifiedMatching MONDO:0005749 eosinophilic pneumonia skos:exactMatch DOID:5870 eosinophilic pneumonia semapv:UnspecifiedMatching MONDO:0005749 eosinophilic pneumonia skos:exactMatch NCIT:C35150 Eosinophilic Pneumonia semapv:UnspecifiedMatching MONDO:0005749 eosinophilic pneumonia skos:exactMatch UMLS:C1527407 semapv:UnspecifiedMatching MONDO:0005750 ephemeral fever skos:exactMatch UMLS:C0014481 semapv:UnspecifiedMatching MONDO:0005750 ephemeral fever skos:exactMatch mesh:D004810 semapv:UnspecifiedMatching MONDO:0005751 epidemic pleurodynia skos:exactMatch DOID:10882 epidemic pleurodynia semapv:UnspecifiedMatching MONDO:0005751 epidemic pleurodynia skos:exactMatch ICD10CM:B33.0 Epidemic myalgia semapv:UnspecifiedMatching MONDO:0005751 epidemic pleurodynia skos:exactMatch SCTID:83264000 semapv:UnspecifiedMatching MONDO:0005751 epidemic pleurodynia skos:exactMatch UMLS:C0032238 semapv:UnspecifiedMatching MONDO:0005751 epidemic pleurodynia skos:exactMatch mesh:D011000 semapv:UnspecifiedMatching MONDO:0005752 epidural abscess skos:exactMatch DOID:11387 epidural abscess semapv:UnspecifiedMatching MONDO:0005752 epidural abscess skos:exactMatch SCTID:61974008 semapv:UnspecifiedMatching MONDO:0005752 epidural abscess skos:exactMatch UMLS:C0270629 semapv:UnspecifiedMatching MONDO:0005752 epidural abscess skos:exactMatch mesh:D020802 semapv:UnspecifiedMatching MONDO:0005753 epiglottitis skos:exactMatch DOID:9398 epiglottitis semapv:UnspecifiedMatching MONDO:0005753 epiglottitis skos:exactMatch NCIT:C116007 Epiglottitis semapv:UnspecifiedMatching MONDO:0005753 epiglottitis skos:exactMatch SCTID:80384002 semapv:UnspecifiedMatching MONDO:0005753 epiglottitis skos:exactMatch UMLS:C0014541 semapv:UnspecifiedMatching MONDO:0005753 epiglottitis skos:exactMatch mesh:D004826 semapv:UnspecifiedMatching MONDO:0005754 epilepsy with generalized tonic-clonic seizures skos:exactMatch DOID:7725 epilepsy with generalized tonic-clonic seizures semapv:UnspecifiedMatching MONDO:0005754 epilepsy with generalized tonic-clonic seizures skos:exactMatch NCIT:C3022 Grand Mal Epilepsy semapv:UnspecifiedMatching MONDO:0005754 epilepsy with generalized tonic-clonic seizures skos:exactMatch SCTID:352818000 semapv:UnspecifiedMatching MONDO:0005754 epilepsy with generalized tonic-clonic seizures skos:exactMatch UMLS:C0014549 semapv:UnspecifiedMatching MONDO:0005754 epilepsy with generalized tonic-clonic seizures skos:exactMatch mesh:D004830 semapv:UnspecifiedMatching MONDO:0005755 equine infectious anemia skos:exactMatch NCIT:C84694 Equine Infectious Anemia semapv:UnspecifiedMatching MONDO:0005755 equine infectious anemia skos:exactMatch UMLS:C0014661 semapv:UnspecifiedMatching MONDO:0005755 equine infectious anemia skos:exactMatch mesh:D004859 semapv:UnspecifiedMatching MONDO:0005756 ethmoid sinusitis skos:exactMatch DOID:9507 ethmoid sinusitis semapv:UnspecifiedMatching MONDO:0005756 ethmoid sinusitis skos:exactMatch NCIT:C34597 Ethmoidal Sinusitis semapv:UnspecifiedMatching MONDO:0005756 ethmoid sinusitis skos:exactMatch SCTID:18643000 semapv:UnspecifiedMatching MONDO:0005756 ethmoid sinusitis skos:exactMatch UMLS:C0015029 semapv:UnspecifiedMatching MONDO:0005756 ethmoid sinusitis skos:exactMatch mesh:D015521 semapv:UnspecifiedMatching MONDO:0005757 eumycotic mycetoma skos:exactMatch DOID:13078 eumycotic mycetoma semapv:UnspecifiedMatching MONDO:0005757 eumycotic mycetoma skos:exactMatch SCTID:410038006 semapv:UnspecifiedMatching MONDO:0005758 eunuchism skos:exactMatch DOID:5003 eunuchism semapv:UnspecifiedMatching MONDO:0005758 eunuchism skos:exactMatch NCIT:C131195 Primary Testicular Failure semapv:UnspecifiedMatching MONDO:0005758 eunuchism skos:exactMatch SCTID:267403002 semapv:UnspecifiedMatching MONDO:0005758 eunuchism skos:exactMatch UMLS:C0238117 semapv:UnspecifiedMatching MONDO:0005758 eunuchism skos:exactMatch mesh:D005058 semapv:UnspecifiedMatching MONDO:0005759 fascioloidiasis skos:exactMatch DOID:1217 fascioloidiasis semapv:UnspecifiedMatching MONDO:0005759 fascioloidiasis skos:exactMatch SCTID:69550000 semapv:UnspecifiedMatching MONDO:0005759 fascioloidiasis skos:exactMatch UMLS:C0015655 semapv:UnspecifiedMatching MONDO:0005759 fascioloidiasis skos:exactMatch mesh:D005213 semapv:UnspecifiedMatching MONDO:0005761 filarial elephantiasis skos:exactMatch DOID:12211 filarial elephantiasis semapv:UnspecifiedMatching MONDO:0005761 filarial elephantiasis skos:exactMatch NCIT:C128360 Lymphatic Filariasis semapv:UnspecifiedMatching MONDO:0005761 filarial elephantiasis skos:exactMatch Orphanet:2035 Lymphatic filariasis semapv:UnspecifiedMatching MONDO:0005761 filarial elephantiasis skos:exactMatch SCTID:14100003 semapv:UnspecifiedMatching MONDO:0005761 filarial elephantiasis skos:exactMatch SCTID:240820001 semapv:UnspecifiedMatching MONDO:0005761 filarial elephantiasis skos:exactMatch mesh:D004605 semapv:UnspecifiedMatching MONDO:0005762 Filoviridae infectious disease skos:exactMatch UMLS:C0242917 semapv:UnspecifiedMatching MONDO:0005762 Filoviridae infectious disease skos:exactMatch mesh:D018702 semapv:UnspecifiedMatching MONDO:0005763 Flaviviridae infectious disease skos:exactMatch SCTID:111865007 semapv:UnspecifiedMatching MONDO:0005763 Flaviviridae infectious disease skos:exactMatch mesh:D018178 semapv:UnspecifiedMatching MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch DOID:6262 follicular dendritic cell sarcoma semapv:UnspecifiedMatching MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch NCIT:C9281 Follicular Dendritic Cell Sarcoma semapv:UnspecifiedMatching MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:UnspecifiedMatching MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch UMLS:C1260325 semapv:UnspecifiedMatching MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch mesh:D054740 semapv:UnspecifiedMatching MONDO:0005765 foot and mouth disease skos:exactMatch UMLS:C0016514 semapv:UnspecifiedMatching MONDO:0005765 foot and mouth disease skos:exactMatch mesh:D005536 semapv:UnspecifiedMatching MONDO:0005766 fungal lung infectious disease skos:exactMatch UMLS:C0024116 semapv:UnspecifiedMatching MONDO:0005766 fungal lung infectious disease skos:exactMatch mesh:D008172 semapv:UnspecifiedMatching MONDO:0005767 gas gangrene skos:exactMatch DOID:9159 gas gangrene semapv:UnspecifiedMatching MONDO:0005767 gas gangrene skos:exactMatch ICD10CM:A48.0 Gas gangrene semapv:UnspecifiedMatching MONDO:0005767 gas gangrene skos:exactMatch SCTID:80466000 semapv:UnspecifiedMatching MONDO:0005767 gas gangrene skos:exactMatch UMLS:C0017105 semapv:UnspecifiedMatching MONDO:0005767 gas gangrene skos:exactMatch mesh:D005738 semapv:UnspecifiedMatching MONDO:0005768 gastrointestinal tuberculosis skos:exactMatch DOID:404 gastrointestinal tuberculosis semapv:UnspecifiedMatching MONDO:0005768 gastrointestinal tuberculosis skos:exactMatch SCTID:186225008 semapv:UnspecifiedMatching MONDO:0005768 gastrointestinal tuberculosis skos:exactMatch UMLS:C0041312 semapv:UnspecifiedMatching MONDO:0005768 gastrointestinal tuberculosis skos:exactMatch mesh:D014385 semapv:UnspecifiedMatching MONDO:0005769 geniculate herpes zoster skos:exactMatch DOID:9210 herpes zoster oticus semapv:UnspecifiedMatching MONDO:0005769 geniculate herpes zoster skos:exactMatch NCIT:C84763 Herpes Zoster Oticus semapv:UnspecifiedMatching MONDO:0005769 geniculate herpes zoster skos:exactMatch Orphanet:3020 Ramsay Hunt syndrome semapv:UnspecifiedMatching MONDO:0005769 geniculate herpes zoster skos:exactMatch SCTID:95670000 semapv:UnspecifiedMatching MONDO:0005769 geniculate herpes zoster skos:exactMatch UMLS:C0017409 semapv:UnspecifiedMatching MONDO:0005770 genital herpes skos:exactMatch DOID:8704 genital herpes semapv:UnspecifiedMatching MONDO:0005770 genital herpes skos:exactMatch NCIT:C14364 Genital Herpes semapv:UnspecifiedMatching MONDO:0005770 genital herpes skos:exactMatch SCTID:33839006 semapv:UnspecifiedMatching MONDO:0005770 genital herpes skos:exactMatch UMLS:C0019342 semapv:UnspecifiedMatching MONDO:0005770 genital herpes skos:exactMatch mesh:D006558 semapv:UnspecifiedMatching MONDO:0005771 geographic tongue skos:exactMatch DOID:1455 geographic tongue semapv:UnspecifiedMatching MONDO:0005771 geographic tongue skos:exactMatch ICD10CM:K14.1 Geographic tongue semapv:UnspecifiedMatching MONDO:0005771 geographic tongue skos:exactMatch NCIT:C84588 Benign Migratory Glossitis semapv:UnspecifiedMatching MONDO:0005771 geographic tongue skos:exactMatch SCTID:59032001 semapv:UnspecifiedMatching MONDO:0005771 geographic tongue skos:exactMatch UMLS:C0017677 semapv:UnspecifiedMatching MONDO:0005772 geotrichosis skos:exactMatch DOID:2832 geotrichosis semapv:UnspecifiedMatching MONDO:0005772 geotrichosis skos:exactMatch ICD10CM:B48.3 Geotrichosis semapv:UnspecifiedMatching MONDO:0005772 geotrichosis skos:exactMatch SCTID:13969006 semapv:UnspecifiedMatching MONDO:0005772 geotrichosis skos:exactMatch UMLS:C0017455 semapv:UnspecifiedMatching MONDO:0005772 geotrichosis skos:exactMatch mesh:D005847 semapv:UnspecifiedMatching MONDO:0005773 Gerstmann syndrome skos:exactMatch DOID:4969 Gerstmann syndrome semapv:UnspecifiedMatching MONDO:0005773 Gerstmann syndrome skos:exactMatch Orphanet:221117 Gerstmann syndrome semapv:UnspecifiedMatching MONDO:0005773 Gerstmann syndrome skos:exactMatch SCTID:36785009 semapv:UnspecifiedMatching MONDO:0005773 Gerstmann syndrome skos:exactMatch mesh:D005862 semapv:UnspecifiedMatching MONDO:0005774 glanders skos:exactMatch DOID:13444 glanders semapv:UnspecifiedMatching MONDO:0005774 glanders skos:exactMatch ICD10CM:A24.0 Glanders semapv:UnspecifiedMatching MONDO:0005774 glanders skos:exactMatch NCIT:C34638 Glanders semapv:UnspecifiedMatching MONDO:0005774 glanders skos:exactMatch SCTID:4639008 semapv:UnspecifiedMatching MONDO:0005774 glanders skos:exactMatch UMLS:C0017589 semapv:UnspecifiedMatching MONDO:0005774 glanders skos:exactMatch mesh:D005896 semapv:UnspecifiedMatching MONDO:0005775 G6PD deficiency skos:exactMatch DOID:2862 glucosephosphate dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0005775 G6PD deficiency skos:exactMatch NCIT:C98933 Glucose-6-Phosphate Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0005775 G6PD deficiency skos:exactMatch SCTID:62403005 semapv:UnspecifiedMatching MONDO:0005775 G6PD deficiency skos:exactMatch UMLS:C2939465 semapv:UnspecifiedMatching MONDO:0005775 G6PD deficiency skos:exactMatch mesh:D005955 semapv:UnspecifiedMatching MONDO:0005776 gnathomiasis skos:exactMatch DOID:11379 gnathomiasis semapv:UnspecifiedMatching MONDO:0005776 gnathomiasis skos:exactMatch ICD10CM:B83.1 Gnathostomiasis semapv:UnspecifiedMatching MONDO:0005776 gnathomiasis skos:exactMatch NCIT:C128395 Gnathostomiasis semapv:UnspecifiedMatching MONDO:0005776 gnathomiasis skos:exactMatch SCTID:44086001 semapv:UnspecifiedMatching MONDO:0005776 gnathomiasis skos:exactMatch UMLS:C0018013 semapv:UnspecifiedMatching MONDO:0005776 gnathomiasis skos:exactMatch mesh:D058429 semapv:UnspecifiedMatching MONDO:0005777 granuloma inguinale skos:exactMatch DOID:9113 granuloma inguinale semapv:UnspecifiedMatching MONDO:0005777 granuloma inguinale skos:exactMatch ICD10CM:A58 Granuloma inguinale semapv:UnspecifiedMatching MONDO:0005777 granuloma inguinale skos:exactMatch NCIT:C3065 Granuloma Inguinale semapv:UnspecifiedMatching MONDO:0005777 granuloma inguinale skos:exactMatch SCTID:28867007 semapv:UnspecifiedMatching MONDO:0005777 granuloma inguinale skos:exactMatch UMLS:C0018190 semapv:UnspecifiedMatching MONDO:0005777 granuloma inguinale skos:exactMatch mesh:D006100 semapv:UnspecifiedMatching MONDO:0005778 haemonchiasis skos:exactMatch DOID:3332 haemonchiasis semapv:UnspecifiedMatching MONDO:0005778 haemonchiasis skos:exactMatch UMLS:C0018477 semapv:UnspecifiedMatching MONDO:0005778 haemonchiasis skos:exactMatch mesh:D006188 semapv:UnspecifiedMatching MONDO:0005779 hand, foot and mouth disease skos:exactMatch DOID:10881 hand, foot and mouth disease semapv:UnspecifiedMatching MONDO:0005779 hand, foot and mouth disease skos:exactMatch NCIT:C128439 Hand Foot and Mouth Disease semapv:UnspecifiedMatching MONDO:0005779 hand, foot and mouth disease skos:exactMatch SCTID:266108008 semapv:UnspecifiedMatching MONDO:0005779 hand, foot and mouth disease skos:exactMatch UMLS:C0018572 semapv:UnspecifiedMatching MONDO:0005779 hand, foot and mouth disease skos:exactMatch mesh:D006232 semapv:UnspecifiedMatching MONDO:0005780 hantavirus infectious disease skos:exactMatch NCIT:C3899 Hantavirus Infection semapv:UnspecifiedMatching MONDO:0005780 hantavirus infectious disease skos:exactMatch SCTID:359761005 semapv:UnspecifiedMatching MONDO:0005780 hantavirus infectious disease skos:exactMatch UMLS:C0242994 semapv:UnspecifiedMatching MONDO:0005780 hantavirus infectious disease skos:exactMatch mesh:D018778 semapv:UnspecifiedMatching MONDO:0005783 hemopericardium skos:exactMatch DOID:11482 hemopericardium semapv:UnspecifiedMatching MONDO:0005783 hemopericardium skos:exactMatch SCTID:23412002 semapv:UnspecifiedMatching MONDO:0005783 hemopericardium skos:exactMatch UMLS:C0019064 semapv:UnspecifiedMatching MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome skos:exactMatch DOID:11266 Hantavirus hemorrhagic fever with renal syndrome semapv:UnspecifiedMatching MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome skos:exactMatch ICD10CM:A98.5 Hemorrhagic fever with renal syndrome semapv:UnspecifiedMatching MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome skos:exactMatch NCIT:C84753 Hemorrhagic Fever with Renal Syndrome semapv:UnspecifiedMatching MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome skos:exactMatch SCTID:102455002 semapv:UnspecifiedMatching MONDO:0005785 henipavirus infectious disease skos:exactMatch mesh:D045464 semapv:UnspecifiedMatching MONDO:0005786 Hepadnaviridae infectious disease skos:exactMatch UMLS:C0206746 semapv:UnspecifiedMatching MONDO:0005786 Hepadnaviridae infectious disease skos:exactMatch mesh:D018347 semapv:UnspecifiedMatching MONDO:0005787 hepatic tuberculosis skos:exactMatch DOID:407 hepatic tuberculosis semapv:UnspecifiedMatching MONDO:0005787 hepatic tuberculosis skos:exactMatch SCTID:186273003 semapv:UnspecifiedMatching MONDO:0005787 hepatic tuberculosis skos:exactMatch UMLS:C0041313 semapv:UnspecifiedMatching MONDO:0005787 hepatic tuberculosis skos:exactMatch mesh:D014386 semapv:UnspecifiedMatching MONDO:0005788 hepatitis E virus infection skos:exactMatch DOID:4411 hepatitis E semapv:UnspecifiedMatching MONDO:0005788 hepatitis E virus infection skos:exactMatch SCTID:7111000119109 semapv:UnspecifiedMatching MONDO:0005788 hepatitis E virus infection skos:exactMatch UMLS:C0085293 semapv:UnspecifiedMatching MONDO:0005788 hepatitis E virus infection skos:exactMatch mesh:D016751 semapv:UnspecifiedMatching MONDO:0005789 hepatitis D virus infection skos:exactMatch DOID:2047 hepatitis D semapv:UnspecifiedMatching MONDO:0005789 hepatitis D virus infection skos:exactMatch Orphanet:402823 Hepatitis delta semapv:UnspecifiedMatching MONDO:0005789 hepatitis D virus infection skos:exactMatch SCTID:707341005 semapv:UnspecifiedMatching MONDO:0005789 hepatitis D virus infection skos:exactMatch mesh:D003699 semapv:UnspecifiedMatching MONDO:0005790 hepatitis A virus infection skos:exactMatch DOID:12549 hepatitis A semapv:UnspecifiedMatching MONDO:0005790 hepatitis A virus infection skos:exactMatch NCIT:C3096 Hepatitis A Infection semapv:UnspecifiedMatching MONDO:0005790 hepatitis A virus infection skos:exactMatch SCTID:40468003 semapv:UnspecifiedMatching MONDO:0005790 hepatitis A virus infection skos:exactMatch UMLS:C0019159 semapv:UnspecifiedMatching MONDO:0005790 hepatitis A virus infection skos:exactMatch mesh:D006506 semapv:UnspecifiedMatching MONDO:0005791 herpangina skos:exactMatch DOID:10883 herpangina semapv:UnspecifiedMatching MONDO:0005791 herpangina skos:exactMatch SCTID:274102007 semapv:UnspecifiedMatching MONDO:0005791 herpangina skos:exactMatch UMLS:C0019338 semapv:UnspecifiedMatching MONDO:0005791 herpangina skos:exactMatch mesh:D006557 semapv:UnspecifiedMatching MONDO:0005792 herpes simplex virus gingivostomatitis skos:exactMatch SCTID:57920007 semapv:UnspecifiedMatching MONDO:0005792 herpes simplex virus gingivostomatitis skos:exactMatch mesh:D013283 semapv:UnspecifiedMatching MONDO:0005794 Herpesviridae infectious disease skos:exactMatch SCTID:23513009 semapv:UnspecifiedMatching MONDO:0005794 Herpesviridae infectious disease skos:exactMatch mesh:D006566 semapv:UnspecifiedMatching MONDO:0005796 HIV enteropathy skos:exactMatch UMLS:C0282616 semapv:UnspecifiedMatching MONDO:0005796 HIV enteropathy skos:exactMatch mesh:D019053 semapv:UnspecifiedMatching MONDO:0005797 HIV wasting syndrome skos:exactMatch Orphanet:90081 AIDS wasting syndrome semapv:UnspecifiedMatching MONDO:0005797 HIV wasting syndrome skos:exactMatch UMLS:C0343755 semapv:UnspecifiedMatching MONDO:0005797 HIV wasting syndrome skos:exactMatch mesh:D019247 semapv:UnspecifiedMatching MONDO:0005798 HIV-associated nephropathy skos:exactMatch NCIT:C26918 HIV-Associated Nephropathy semapv:UnspecifiedMatching MONDO:0005798 HIV-associated nephropathy skos:exactMatch UMLS:C0078911 semapv:UnspecifiedMatching MONDO:0005798 HIV-associated nephropathy skos:exactMatch mesh:D016263 semapv:UnspecifiedMatching MONDO:0005800 hordeolum skos:exactMatch DOID:9909 hordeolum semapv:UnspecifiedMatching MONDO:0005800 hordeolum skos:exactMatch NCIT:C118722 Stye semapv:UnspecifiedMatching MONDO:0005800 hordeolum skos:exactMatch SCTID:397513003 semapv:UnspecifiedMatching MONDO:0005800 hordeolum skos:exactMatch UMLS:C0019917 semapv:UnspecifiedMatching MONDO:0005800 hordeolum skos:exactMatch mesh:D006726 semapv:UnspecifiedMatching MONDO:0005801 human T-lymphotropic virus 1 infectious disease skos:exactMatch UMLS:C0020097 semapv:UnspecifiedMatching MONDO:0005801 human T-lymphotropic virus 1 infectious disease skos:exactMatch mesh:D015490 semapv:UnspecifiedMatching MONDO:0005802 hymenolepiasis skos:exactMatch DOID:10074 hymenolepiasis semapv:UnspecifiedMatching MONDO:0005802 hymenolepiasis skos:exactMatch ICD10CM:B71.0 Hymenolepiasis semapv:UnspecifiedMatching MONDO:0005802 hymenolepiasis skos:exactMatch NCIT:C84768 Hymenolepiasis semapv:UnspecifiedMatching MONDO:0005802 hymenolepiasis skos:exactMatch Orphanet:401 Hymenolepiasis semapv:UnspecifiedMatching MONDO:0005802 hymenolepiasis skos:exactMatch SCTID:44917000 semapv:UnspecifiedMatching MONDO:0005802 hymenolepiasis skos:exactMatch UMLS:C0020413 semapv:UnspecifiedMatching MONDO:0005802 hymenolepiasis skos:exactMatch mesh:D006925 semapv:UnspecifiedMatching MONDO:0005803 hyperinsulinemic hypoglycemia skos:exactMatch DOID:13317 hyperinsulinemic hypoglycemia semapv:UnspecifiedMatching MONDO:0005803 hyperinsulinemic hypoglycemia skos:exactMatch OMIMPS:256450 semapv:UnspecifiedMatching MONDO:0005803 hyperinsulinemic hypoglycemia skos:exactMatch Orphanet:443095 Hyperinsulinemic hypoglycaemia semapv:UnspecifiedMatching MONDO:0005803 hyperinsulinemic hypoglycemia skos:exactMatch SCTID:42681006 semapv:UnspecifiedMatching MONDO:0005804 hyperprolactinemia skos:exactMatch ICD10CM:E22.1 Hyperprolactinemia semapv:UnspecifiedMatching MONDO:0005804 hyperprolactinemia skos:exactMatch SCTID:237662005 semapv:UnspecifiedMatching MONDO:0005804 hyperprolactinemia skos:exactMatch UMLS:C0020514 semapv:UnspecifiedMatching MONDO:0005804 hyperprolactinemia skos:exactMatch mesh:D006966 semapv:UnspecifiedMatching MONDO:0005805 hypodermyiasis skos:exactMatch DOID:12926 hypodermyiasis semapv:UnspecifiedMatching MONDO:0005805 hypodermyiasis skos:exactMatch UMLS:C0020607 semapv:UnspecifiedMatching MONDO:0005805 hypodermyiasis skos:exactMatch mesh:D007000 semapv:UnspecifiedMatching MONDO:0005806 hypopharynx cancer skos:exactMatch DOID:8533 hypopharynx cancer semapv:UnspecifiedMatching MONDO:0005806 hypopharynx cancer skos:exactMatch ICD10CM:C13 Malignant neoplasm of hypopharynx semapv:UnspecifiedMatching MONDO:0005806 hypopharynx cancer skos:exactMatch NCIT:C7190 Malignant Hypopharyngeal Neoplasm semapv:UnspecifiedMatching MONDO:0005806 hypopharynx cancer skos:exactMatch SCTID:303012000 semapv:UnspecifiedMatching MONDO:0005806 hypopharynx cancer skos:exactMatch mesh:D007012 semapv:UnspecifiedMatching MONDO:0005807 idiopathic CD4-positive T-lymphocytopenia skos:exactMatch DOID:3109 idiopathic CD4-positive T-lymphocytopenia semapv:UnspecifiedMatching MONDO:0005807 idiopathic CD4-positive T-lymphocytopenia skos:exactMatch NCIT:C84780 Idiopathic CD4-Positive T-Lymphocytopenia semapv:UnspecifiedMatching MONDO:0005807 idiopathic CD4-positive T-lymphocytopenia skos:exactMatch UMLS:C0206744 semapv:UnspecifiedMatching MONDO:0005807 idiopathic CD4-positive T-lymphocytopenia skos:exactMatch mesh:D018344 semapv:UnspecifiedMatching MONDO:0005808 inclusion conjunctivitis skos:exactMatch DOID:13800 inclusion conjunctivitis semapv:UnspecifiedMatching MONDO:0005808 inclusion conjunctivitis skos:exactMatch ICD10CM:A74.0 Chlamydial conjunctivitis semapv:UnspecifiedMatching MONDO:0005808 inclusion conjunctivitis skos:exactMatch NCIT:C116817 Neonatal Chlamydia Conjunctivitis semapv:UnspecifiedMatching MONDO:0005808 inclusion conjunctivitis skos:exactMatch SCTID:231861005 semapv:UnspecifiedMatching MONDO:0005808 inclusion conjunctivitis skos:exactMatch mesh:D003235 semapv:UnspecifiedMatching MONDO:0005809 infectious ectromelia skos:exactMatch UMLS:C0013591 semapv:UnspecifiedMatching MONDO:0005809 infectious ectromelia skos:exactMatch mesh:D004482 semapv:UnspecifiedMatching MONDO:0005810 infectious mononucleosis skos:exactMatch DOID:8568 infectious mononucleosis semapv:UnspecifiedMatching MONDO:0005810 infectious mononucleosis skos:exactMatch NCIT:C34726 Infectious Mononucleosis semapv:UnspecifiedMatching MONDO:0005810 infectious mononucleosis skos:exactMatch SCTID:186668002 semapv:UnspecifiedMatching MONDO:0005810 infectious mononucleosis skos:exactMatch UMLS:C0021345 semapv:UnspecifiedMatching MONDO:0005810 infectious mononucleosis skos:exactMatch mesh:D007244 semapv:UnspecifiedMatching MONDO:0005811 infectious myxomatosis skos:exactMatch UMLS:C0027152 semapv:UnspecifiedMatching MONDO:0005811 infectious myxomatosis skos:exactMatch mesh:D009234 semapv:UnspecifiedMatching MONDO:0005812 influenza skos:exactMatch DOID:8469 influenza semapv:UnspecifiedMatching MONDO:0005812 influenza skos:exactMatch NCIT:C53482 Influenza semapv:UnspecifiedMatching MONDO:0005812 influenza skos:exactMatch SCTID:61700007 semapv:UnspecifiedMatching MONDO:0005812 influenza skos:exactMatch mesh:D007251 semapv:UnspecifiedMatching MONDO:0005812 influenza skos:exactMatch mesh:D009976 semapv:UnspecifiedMatching MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch DOID:7848 interdigitating dendritic cell sarcoma semapv:UnspecifiedMatching MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch NCIT:C9282 Interdigitating Dendritic Cell Sarcoma semapv:UnspecifiedMatching MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch SCTID:715664005 semapv:UnspecifiedMatching MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch mesh:D054739 semapv:UnspecifiedMatching MONDO:0005814 intestinal cancer skos:exactMatch DOID:10155 intestinal cancer semapv:UnspecifiedMatching MONDO:0005814 intestinal cancer skos:exactMatch NCIT:C4572 Malignant Intestinal Neoplasm semapv:UnspecifiedMatching MONDO:0005814 intestinal cancer skos:exactMatch SCTID:363508008 semapv:UnspecifiedMatching MONDO:0005814 intestinal cancer skos:exactMatch UMLS:C0346627 semapv:UnspecifiedMatching MONDO:0005814 intestinal cancer skos:exactMatch mesh:D007414 semapv:UnspecifiedMatching MONDO:0005815 pancreatic neuroendocrine neoplasm skos:exactMatch DOID:1799 islet cell tumor semapv:UnspecifiedMatching MONDO:0005815 pancreatic neuroendocrine neoplasm skos:exactMatch NCIT:C27031 Pancreatic Neuroendocrine Neoplasm semapv:UnspecifiedMatching MONDO:0005815 pancreatic neuroendocrine neoplasm skos:exactMatch Orphanet:506052 Neuroendocrine neoplasm of pancreas semapv:UnspecifiedMatching MONDO:0005815 pancreatic neuroendocrine neoplasm skos:exactMatch SCTID:254611009 semapv:UnspecifiedMatching MONDO:0005817 Kluver-Bucy syndrome skos:exactMatch DOID:2510 Kluver-Bucy syndrome semapv:UnspecifiedMatching MONDO:0005817 Kluver-Bucy syndrome skos:exactMatch NCIT:C84802 Kluver-Bucy Syndrome semapv:UnspecifiedMatching MONDO:0005817 Kluver-Bucy syndrome skos:exactMatch Orphanet:157823 Klüver-Bucy syndrome semapv:UnspecifiedMatching MONDO:0005817 Kluver-Bucy syndrome skos:exactMatch SCTID:10651001 semapv:UnspecifiedMatching MONDO:0005817 Kluver-Bucy syndrome skos:exactMatch mesh:D020232 semapv:UnspecifiedMatching MONDO:0005819 laryngeal tuberculosis skos:exactMatch DOID:1583 laryngeal tuberculosis semapv:UnspecifiedMatching MONDO:0005819 laryngeal tuberculosis skos:exactMatch NCIT:C26895 Tuberculous Laryngitis semapv:UnspecifiedMatching MONDO:0005819 laryngeal tuberculosis skos:exactMatch SCTID:70341005 semapv:UnspecifiedMatching MONDO:0005819 laryngeal tuberculosis skos:exactMatch UMLS:C0041315 semapv:UnspecifiedMatching MONDO:0005819 laryngeal tuberculosis skos:exactMatch mesh:D014387 semapv:UnspecifiedMatching MONDO:0005820 Lassa fever skos:exactMatch DOID:9537 Lassa fever semapv:UnspecifiedMatching MONDO:0005820 Lassa fever skos:exactMatch ICD10CM:A96.2 Lassa fever semapv:UnspecifiedMatching MONDO:0005820 Lassa fever skos:exactMatch NCIT:C128418 Lassa Fever semapv:UnspecifiedMatching MONDO:0005820 Lassa fever skos:exactMatch Orphanet:99824 Lassa fever semapv:UnspecifiedMatching MONDO:0005820 Lassa fever skos:exactMatch SCTID:19065005 semapv:UnspecifiedMatching MONDO:0005820 Lassa fever skos:exactMatch UMLS:C0023092 semapv:UnspecifiedMatching MONDO:0005820 Lassa fever skos:exactMatch mesh:D007835 semapv:UnspecifiedMatching MONDO:0005821 late congenital syphilis skos:exactMatch DOID:10039 late congenital syphilis semapv:UnspecifiedMatching MONDO:0005821 late congenital syphilis skos:exactMatch SCTID:82323002 semapv:UnspecifiedMatching MONDO:0005822 latent syphilis skos:exactMatch DOID:9531 latent syphilis semapv:UnspecifiedMatching MONDO:0005822 latent syphilis skos:exactMatch NCIT:C35056 Latent Syphilis semapv:UnspecifiedMatching MONDO:0005822 latent syphilis skos:exactMatch SCTID:444150000 semapv:UnspecifiedMatching MONDO:0005822 latent syphilis skos:exactMatch UMLS:C0039133 semapv:UnspecifiedMatching MONDO:0005822 latent syphilis skos:exactMatch mesh:D013592 semapv:UnspecifiedMatching MONDO:0005823 legionellosis skos:exactMatch DOID:10458 legionellosis semapv:UnspecifiedMatching MONDO:0005823 legionellosis skos:exactMatch NCIT:C128334 Legionellosis semapv:UnspecifiedMatching MONDO:0005823 legionellosis skos:exactMatch Orphanet:549 Legionnaires disease semapv:UnspecifiedMatching MONDO:0005823 legionellosis skos:exactMatch Orphanet:600832 Legionella infection semapv:UnspecifiedMatching MONDO:0005823 legionellosis skos:exactMatch SCTID:26726000 semapv:UnspecifiedMatching MONDO:0005823 legionellosis skos:exactMatch UMLS:C0023240 semapv:UnspecifiedMatching MONDO:0005823 legionellosis skos:exactMatch mesh:D007876 semapv:UnspecifiedMatching MONDO:0005824 Legionnaires' disease skos:exactMatch DOID:10457 Legionnaires' disease semapv:UnspecifiedMatching MONDO:0005824 Legionnaires' disease skos:exactMatch NCIT:C128339 Legionella Pneumonia semapv:UnspecifiedMatching MONDO:0005824 Legionnaires' disease skos:exactMatch SCTID:195889001 semapv:UnspecifiedMatching MONDO:0005824 Legionnaires' disease skos:exactMatch mesh:D007877 semapv:UnspecifiedMatching MONDO:0005825 leptospirosis skos:exactMatch DOID:2297 leptospirosis semapv:UnspecifiedMatching MONDO:0005825 leptospirosis skos:exactMatch ICD10CM:A27 Leptospirosis semapv:UnspecifiedMatching MONDO:0005825 leptospirosis skos:exactMatch NCIT:C84825 Leptospirosis semapv:UnspecifiedMatching MONDO:0005825 leptospirosis skos:exactMatch Orphanet:509 Leptospirosis semapv:UnspecifiedMatching MONDO:0005825 leptospirosis skos:exactMatch SCTID:77377001 semapv:UnspecifiedMatching MONDO:0005825 leptospirosis skos:exactMatch UMLS:C0023364 semapv:UnspecifiedMatching MONDO:0005825 leptospirosis skos:exactMatch mesh:D007922 semapv:UnspecifiedMatching MONDO:0005826 lipid pneumonia skos:exactMatch DOID:3241 lipid pneumonia semapv:UnspecifiedMatching MONDO:0005826 lipid pneumonia skos:exactMatch SCTID:707449006 semapv:UnspecifiedMatching MONDO:0005826 lipid pneumonia skos:exactMatch UMLS:C0032298 semapv:UnspecifiedMatching MONDO:0005826 lipid pneumonia skos:exactMatch mesh:D011017 semapv:UnspecifiedMatching MONDO:0005827 lipoatrophic diabetes skos:exactMatch DOID:11712 lipoatrophic diabetes mellitus semapv:UnspecifiedMatching MONDO:0005827 lipoatrophic diabetes skos:exactMatch NCIT:C34537 Lipoatrophic Diabetes Mellitus semapv:UnspecifiedMatching MONDO:0005827 lipoatrophic diabetes skos:exactMatch SCTID:127012008 semapv:UnspecifiedMatching MONDO:0005827 lipoatrophic diabetes skos:exactMatch mesh:D003923 semapv:UnspecifiedMatching MONDO:0005828 listeriosis skos:exactMatch DOID:11573 listeriosis semapv:UnspecifiedMatching MONDO:0005828 listeriosis skos:exactMatch ICD10CM:A32 Listeriosis semapv:UnspecifiedMatching MONDO:0005828 listeriosis skos:exactMatch NCIT:C82994 Listeriosis semapv:UnspecifiedMatching MONDO:0005828 listeriosis skos:exactMatch Orphanet:533 Listeriosis semapv:UnspecifiedMatching MONDO:0005828 listeriosis skos:exactMatch UMLS:C0023860 semapv:UnspecifiedMatching MONDO:0005828 listeriosis skos:exactMatch mesh:D008088 semapv:UnspecifiedMatching MONDO:0005829 louping ill skos:exactMatch DOID:10250 louping ill semapv:UnspecifiedMatching MONDO:0005829 louping ill skos:exactMatch UMLS:C0024025 semapv:UnspecifiedMatching MONDO:0005829 louping ill skos:exactMatch mesh:D008146 semapv:UnspecifiedMatching MONDO:0005830 lumpy skin disease skos:exactMatch UMLS:C0024106 semapv:UnspecifiedMatching MONDO:0005830 lumpy skin disease skos:exactMatch mesh:D008166 semapv:UnspecifiedMatching MONDO:0005831 lymph node tuberculosis skos:exactMatch DOID:4889 lymph node tuberculosis semapv:UnspecifiedMatching MONDO:0005831 lymph node tuberculosis skos:exactMatch NCIT:C26896 Lymph Node Tuberculosis semapv:UnspecifiedMatching MONDO:0005831 lymph node tuberculosis skos:exactMatch SCTID:10893003 semapv:UnspecifiedMatching MONDO:0005831 lymph node tuberculosis skos:exactMatch mesh:D014388 semapv:UnspecifiedMatching MONDO:0005832 lymphangitis skos:exactMatch DOID:9317 lymphangitis semapv:UnspecifiedMatching MONDO:0005832 lymphangitis skos:exactMatch ICD10CM:I89.1 Lymphangitis semapv:UnspecifiedMatching MONDO:0005832 lymphangitis skos:exactMatch NCIT:C34790 Lymphangitis semapv:UnspecifiedMatching MONDO:0005832 lymphangitis skos:exactMatch SCTID:1415005 semapv:UnspecifiedMatching MONDO:0005832 lymphangitis skos:exactMatch UMLS:C0024225 semapv:UnspecifiedMatching MONDO:0005832 lymphangitis skos:exactMatch mesh:D008205 semapv:UnspecifiedMatching MONDO:0005833 lymphatic system disorder skos:exactMatch DOID:75 lymphatic system disease semapv:UnspecifiedMatching MONDO:0005833 lymphatic system disorder skos:exactMatch NCIT:C50764 Lymphadenopathy semapv:UnspecifiedMatching MONDO:0005833 lymphatic system disorder skos:exactMatch SCTID:362971004 semapv:UnspecifiedMatching MONDO:0005833 lymphatic system disorder skos:exactMatch UMLS:C4021976 semapv:UnspecifiedMatching MONDO:0005833 lymphatic system disorder skos:exactMatch mesh:D008206 semapv:UnspecifiedMatching MONDO:0005834 lymphogranuloma venereum skos:exactMatch DOID:13819 lymphogranuloma venereum semapv:UnspecifiedMatching MONDO:0005834 lymphogranuloma venereum skos:exactMatch NCIT:C26822 Lymphogranuloma Venereum semapv:UnspecifiedMatching MONDO:0005834 lymphogranuloma venereum skos:exactMatch SCTID:186946009 semapv:UnspecifiedMatching MONDO:0005834 lymphogranuloma venereum skos:exactMatch UMLS:C0024286 semapv:UnspecifiedMatching MONDO:0005834 lymphogranuloma venereum skos:exactMatch mesh:D008219 semapv:UnspecifiedMatching MONDO:0005835 Lynch syndrome skos:exactMatch DOID:3883 Lynch syndrome semapv:UnspecifiedMatching MONDO:0005835 Lynch syndrome skos:exactMatch NCIT:C8494 Lynch Syndrome semapv:UnspecifiedMatching MONDO:0005835 Lynch syndrome skos:exactMatch Orphanet:144 Lynch syndrome semapv:UnspecifiedMatching MONDO:0005835 Lynch syndrome skos:exactMatch SCTID:716318002 semapv:UnspecifiedMatching MONDO:0005836 male reproductive organ cancer skos:exactMatch DOID:3856 male reproductive organ cancer semapv:UnspecifiedMatching MONDO:0005836 male reproductive organ cancer skos:exactMatch NCIT:C8561 Malignant Male Reproductive System Neoplasm semapv:UnspecifiedMatching MONDO:0005836 male reproductive organ cancer skos:exactMatch SCTID:363515000 semapv:UnspecifiedMatching MONDO:0005836 male reproductive organ cancer skos:exactMatch mesh:D005834 semapv:UnspecifiedMatching MONDO:0005837 mandibular cancer skos:exactMatch DOID:2338 mandibular cancer semapv:UnspecifiedMatching MONDO:0005837 mandibular cancer skos:exactMatch NCIT:C35178 Malignant Neoplasm of Lower Jaw Bone semapv:UnspecifiedMatching MONDO:0005837 mandibular cancer skos:exactMatch SCTID:448668007 semapv:UnspecifiedMatching MONDO:0005837 mandibular cancer skos:exactMatch mesh:D008339 semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch DOID:1081 mansonelliasis semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch ICD10CM:B74.4 Mansonelliasis semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch NCIT:C84882 Mansonelliasis semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch Orphanet:2459 Mansonelliasis semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch SCTID:240849009 semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch UMLS:C0024759 semapv:UnspecifiedMatching MONDO:0005838 mansonelliasis skos:exactMatch mesh:D008368 semapv:UnspecifiedMatching MONDO:0005841 maxillary neoplasm skos:exactMatch DOID:4618 maxillary cancer semapv:UnspecifiedMatching MONDO:0005841 maxillary neoplasm skos:exactMatch SCTID:126550004 semapv:UnspecifiedMatching MONDO:0005841 maxillary neoplasm skos:exactMatch UMLS:C0024954 semapv:UnspecifiedMatching MONDO:0005841 maxillary neoplasm skos:exactMatch mesh:D008441 semapv:UnspecifiedMatching MONDO:0005842 maxillary sinusitis skos:exactMatch DOID:2051 maxillary sinusitis semapv:UnspecifiedMatching MONDO:0005842 maxillary sinusitis skos:exactMatch NCIT:C34809 Maxillary Sinusitis semapv:UnspecifiedMatching MONDO:0005842 maxillary sinusitis skos:exactMatch SCTID:88348008 semapv:UnspecifiedMatching MONDO:0005842 maxillary sinusitis skos:exactMatch UMLS:C0024959 semapv:UnspecifiedMatching MONDO:0005842 maxillary sinusitis skos:exactMatch mesh:D015523 semapv:UnspecifiedMatching MONDO:0005843 mediastinal cancer skos:exactMatch DOID:5559 mediastinal cancer semapv:UnspecifiedMatching MONDO:0005843 mediastinal cancer skos:exactMatch NCIT:C3549 Malignant Mediastinal Neoplasm semapv:UnspecifiedMatching MONDO:0005843 mediastinal cancer skos:exactMatch SCTID:363494000 semapv:UnspecifiedMatching MONDO:0005843 mediastinal cancer skos:exactMatch mesh:D008479 semapv:UnspecifiedMatching MONDO:0005844 chalazion skos:exactMatch DOID:9903 meibomian cyst semapv:UnspecifiedMatching MONDO:0005844 chalazion skos:exactMatch ICD10CM:H00.1 Chalazion semapv:UnspecifiedMatching MONDO:0005844 chalazion skos:exactMatch NCIT:C26717 Chalazion semapv:UnspecifiedMatching MONDO:0005844 chalazion skos:exactMatch SCTID:1482004 semapv:UnspecifiedMatching MONDO:0005844 chalazion skos:exactMatch UMLS:C0007933 semapv:UnspecifiedMatching MONDO:0005844 chalazion skos:exactMatch mesh:D017043 semapv:UnspecifiedMatching MONDO:0005845 meningoencephalitis skos:exactMatch DOID:10554 meningoencephalitis semapv:UnspecifiedMatching MONDO:0005845 meningoencephalitis skos:exactMatch NCIT:C34813 Meningoencephalitis semapv:UnspecifiedMatching MONDO:0005845 meningoencephalitis skos:exactMatch SCTID:7125002 semapv:UnspecifiedMatching MONDO:0005845 meningoencephalitis skos:exactMatch UMLS:C0025309 semapv:UnspecifiedMatching MONDO:0005845 meningoencephalitis skos:exactMatch mesh:D008590 semapv:UnspecifiedMatching MONDO:0005846 microsporidiosis skos:exactMatch DOID:4271 microsporidiosis semapv:UnspecifiedMatching MONDO:0005846 microsporidiosis skos:exactMatch NCIT:C84891 Microsporidiosis semapv:UnspecifiedMatching MONDO:0005846 microsporidiosis skos:exactMatch Orphanet:2552 Microsporidiosis semapv:UnspecifiedMatching MONDO:0005846 microsporidiosis skos:exactMatch SCTID:699676006 semapv:UnspecifiedMatching MONDO:0005846 microsporidiosis skos:exactMatch UMLS:C0085407 semapv:UnspecifiedMatching MONDO:0005846 microsporidiosis skos:exactMatch mesh:D016881 semapv:UnspecifiedMatching MONDO:0005847 middle lobe syndrome skos:exactMatch DOID:2810 middle lobe syndrome semapv:UnspecifiedMatching MONDO:0005847 middle lobe syndrome skos:exactMatch SCTID:28295001 semapv:UnspecifiedMatching MONDO:0005847 middle lobe syndrome skos:exactMatch UMLS:C0026069 semapv:UnspecifiedMatching MONDO:0005847 middle lobe syndrome skos:exactMatch mesh:D008878 semapv:UnspecifiedMatching MONDO:0005848 miliary tuberculosis skos:exactMatch DOID:9861 miliary tuberculosis semapv:UnspecifiedMatching MONDO:0005848 miliary tuberculosis skos:exactMatch ICD10CM:A19 Miliary tuberculosis semapv:UnspecifiedMatching MONDO:0005848 miliary tuberculosis skos:exactMatch NCIT:C35086 Miliary Tuberculosis semapv:UnspecifiedMatching MONDO:0005848 miliary tuberculosis skos:exactMatch SCTID:47604008 semapv:UnspecifiedMatching MONDO:0005848 miliary tuberculosis skos:exactMatch UMLS:C0041321 semapv:UnspecifiedMatching MONDO:0005848 miliary tuberculosis skos:exactMatch mesh:D014391 semapv:UnspecifiedMatching MONDO:0005849 obsolete milk allergic reaction skos:exactMatch DOID:4376 milk allergy semapv:UnspecifiedMatching MONDO:0005849 obsolete milk allergic reaction skos:exactMatch UMLS:C0079840 semapv:UnspecifiedMatching MONDO:0005849 obsolete milk allergic reaction skos:exactMatch mesh:D016269 semapv:UnspecifiedMatching MONDO:0005850 milker's nodule skos:exactMatch DOID:8729 milker's nodule semapv:UnspecifiedMatching MONDO:0005850 milker's nodule skos:exactMatch SCTID:27240009 semapv:UnspecifiedMatching MONDO:0005850 milker's nodule skos:exactMatch UMLS:C0026143 semapv:UnspecifiedMatching MONDO:0005850 milker's nodule skos:exactMatch mesh:D011213 semapv:UnspecifiedMatching MONDO:0005851 Miller Fisher syndrome skos:exactMatch DOID:12889 Miller Fisher syndrome semapv:UnspecifiedMatching MONDO:0005851 Miller Fisher syndrome skos:exactMatch NCIT:C116958 Miller Fisher Syndrome semapv:UnspecifiedMatching MONDO:0005851 Miller Fisher syndrome skos:exactMatch Orphanet:98919 Miller Fisher syndrome semapv:UnspecifiedMatching MONDO:0005851 Miller Fisher syndrome skos:exactMatch SCTID:1767005 semapv:UnspecifiedMatching MONDO:0005851 Miller Fisher syndrome skos:exactMatch UMLS:C0393799 semapv:UnspecifiedMatching MONDO:0005851 Miller Fisher syndrome skos:exactMatch mesh:D019846 semapv:UnspecifiedMatching MONDO:0005852 mitral valve stenosis skos:exactMatch DOID:1754 mitral valve stenosis semapv:UnspecifiedMatching MONDO:0005852 mitral valve stenosis skos:exactMatch NCIT:C50654 Mitral Valve Stenosis semapv:UnspecifiedMatching MONDO:0005852 mitral valve stenosis skos:exactMatch SCTID:79619009 semapv:UnspecifiedMatching MONDO:0005852 mitral valve stenosis skos:exactMatch UMLS:C0026269 semapv:UnspecifiedMatching MONDO:0005852 mitral valve stenosis skos:exactMatch mesh:D008946 semapv:UnspecifiedMatching MONDO:0005853 malignant mixed neoplasm skos:exactMatch DOID:154 mixed cell type cancer semapv:UnspecifiedMatching MONDO:0005853 malignant mixed neoplasm skos:exactMatch NCIT:C3729 Malignant Mixed Neoplasm semapv:UnspecifiedMatching MONDO:0005853 malignant mixed neoplasm skos:exactMatch UMLS:C0206625 semapv:UnspecifiedMatching MONDO:0005853 malignant mixed neoplasm skos:exactMatch mesh:D018198 semapv:UnspecifiedMatching MONDO:0005854 mixed connective tissue disease skos:exactMatch DOID:3492 mixed connective tissue disease semapv:UnspecifiedMatching MONDO:0005854 mixed connective tissue disease skos:exactMatch NCIT:C84892 Mixed Connective Tissue Disease semapv:UnspecifiedMatching MONDO:0005854 mixed connective tissue disease skos:exactMatch Orphanet:809 Mixed connective tissue disease semapv:UnspecifiedMatching MONDO:0005854 mixed connective tissue disease skos:exactMatch SCTID:398049005 semapv:UnspecifiedMatching MONDO:0005854 mixed connective tissue disease skos:exactMatch UMLS:C0026272 semapv:UnspecifiedMatching MONDO:0005854 mixed connective tissue disease skos:exactMatch mesh:D008947 semapv:UnspecifiedMatching MONDO:0005855 molluscum contagiosum skos:exactMatch DOID:8867 molluscum contagiosum semapv:UnspecifiedMatching MONDO:0005855 molluscum contagiosum skos:exactMatch ICD10CM:B08.1 Molluscum contagiosum semapv:UnspecifiedMatching MONDO:0005855 molluscum contagiosum skos:exactMatch SCTID:40070004 semapv:UnspecifiedMatching MONDO:0005855 molluscum contagiosum skos:exactMatch UMLS:C0026393 semapv:UnspecifiedMatching MONDO:0005855 molluscum contagiosum skos:exactMatch mesh:D008976 semapv:UnspecifiedMatching MONDO:0005856 Mononegavirales infectious disease skos:exactMatch UMLS:C0242916 semapv:UnspecifiedMatching MONDO:0005856 Mononegavirales infectious disease skos:exactMatch mesh:D018701 semapv:UnspecifiedMatching MONDO:0005857 morbillivirus infectious disease skos:exactMatch UMLS:C0206614 semapv:UnspecifiedMatching MONDO:0005857 morbillivirus infectious disease skos:exactMatch mesh:D018185 semapv:UnspecifiedMatching MONDO:0005858 mucinous cystadenocarcinoma skos:exactMatch DOID:3603 mucinous cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0005858 mucinous cystadenocarcinoma skos:exactMatch NCIT:C3776 Mucinous Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0005858 mucinous cystadenocarcinoma skos:exactMatch UMLS:C0206699 semapv:UnspecifiedMatching MONDO:0005858 mucinous cystadenocarcinoma skos:exactMatch mesh:D018282 semapv:UnspecifiedMatching MONDO:0005859 mucocutaneous leishmaniasis skos:exactMatch DOID:9155 mucocutaneous leishmaniasis semapv:UnspecifiedMatching MONDO:0005859 mucocutaneous leishmaniasis skos:exactMatch ICD10CM:B55.2 Mucocutaneous leishmaniasis semapv:UnspecifiedMatching MONDO:0005859 mucocutaneous leishmaniasis skos:exactMatch NCIT:C34769 American Cutaneous Leishmaniasis semapv:UnspecifiedMatching MONDO:0005859 mucocutaneous leishmaniasis skos:exactMatch UMLS:C1328252 semapv:UnspecifiedMatching MONDO:0005859 mucocutaneous leishmaniasis skos:exactMatch mesh:D007897 semapv:UnspecifiedMatching MONDO:0005861 multidrug-resistant tuberculosis skos:exactMatch DOID:401 multidrug-resistant tuberculosis semapv:UnspecifiedMatching MONDO:0005861 multidrug-resistant tuberculosis skos:exactMatch NCIT:C128415 Multidrug-Resistant Tuberculosis semapv:UnspecifiedMatching MONDO:0005861 multidrug-resistant tuberculosis skos:exactMatch SCTID:423092005 semapv:UnspecifiedMatching MONDO:0005861 multidrug-resistant tuberculosis skos:exactMatch UMLS:C0206526 semapv:UnspecifiedMatching MONDO:0005861 multidrug-resistant tuberculosis skos:exactMatch mesh:D018088 semapv:UnspecifiedMatching MONDO:0005862 obsolete multiple chemical sensitivity skos:exactMatch DOID:4661 multiple chemical sensitivity semapv:UnspecifiedMatching MONDO:0005862 obsolete multiple chemical sensitivity skos:exactMatch SCTID:702772003 semapv:UnspecifiedMatching MONDO:0005862 obsolete multiple chemical sensitivity skos:exactMatch UMLS:C0242992 semapv:UnspecifiedMatching MONDO:0005862 obsolete multiple chemical sensitivity skos:exactMatch mesh:D018777 semapv:UnspecifiedMatching MONDO:0005864 muscle cancer skos:exactMatch DOID:4045 muscle cancer semapv:UnspecifiedMatching MONDO:0005864 muscle cancer skos:exactMatch NCIT:C4883 Malignant Muscle Neoplasm semapv:UnspecifiedMatching MONDO:0005864 muscle cancer skos:exactMatch SCTID:363495004 semapv:UnspecifiedMatching MONDO:0005864 muscle cancer skos:exactMatch UMLS:C0027095 semapv:UnspecifiedMatching MONDO:0005864 muscle cancer skos:exactMatch UMLS:C0684743 semapv:UnspecifiedMatching MONDO:0005865 mushroom workers' lung skos:exactMatch DOID:2708 mushroom workers' lung semapv:UnspecifiedMatching MONDO:0005865 mushroom workers' lung skos:exactMatch SCTID:52333004 semapv:UnspecifiedMatching MONDO:0005865 mushroom workers' lung skos:exactMatch UMLS:C0155889 semapv:UnspecifiedMatching MONDO:0005866 mycobacterium avium complex disease skos:exactMatch DOID:2755 Mycobacterium avium complex disease semapv:UnspecifiedMatching MONDO:0005866 mycobacterium avium complex disease skos:exactMatch NCIT:C36197 Mycobacterium Avium Infection semapv:UnspecifiedMatching MONDO:0005866 mycobacterium avium complex disease skos:exactMatch SCTID:373436002 semapv:UnspecifiedMatching MONDO:0005866 mycobacterium avium complex disease skos:exactMatch UMLS:C0026916 semapv:UnspecifiedMatching MONDO:0005866 mycobacterium avium complex disease skos:exactMatch mesh:D015270 semapv:UnspecifiedMatching MONDO:0005867 Mycoplasma pneumoniae pneumonia skos:exactMatch DOID:13276 Mycoplasma pneumoniae pneumonia semapv:UnspecifiedMatching MONDO:0005867 Mycoplasma pneumoniae pneumonia skos:exactMatch NCIT:C122526 Mycoplasmal Pneumonia semapv:UnspecifiedMatching MONDO:0005867 Mycoplasma pneumoniae pneumonia skos:exactMatch SCTID:46970008 semapv:UnspecifiedMatching MONDO:0005867 Mycoplasma pneumoniae pneumonia skos:exactMatch mesh:D011019 semapv:UnspecifiedMatching MONDO:0005868 myelophthisic anemia skos:exactMatch DOID:2354 myelophthisic anemia semapv:UnspecifiedMatching MONDO:0005868 myelophthisic anemia skos:exactMatch ICD10CM:D61.82 Myelophthisis semapv:UnspecifiedMatching MONDO:0005868 myelophthisic anemia skos:exactMatch NCIT:C36218 Leukoerythroblastic Reaction semapv:UnspecifiedMatching MONDO:0005868 myelophthisic anemia skos:exactMatch SCTID:2694001 semapv:UnspecifiedMatching MONDO:0005868 myelophthisic anemia skos:exactMatch UMLS:C0002890 semapv:UnspecifiedMatching MONDO:0005868 myelophthisic anemia skos:exactMatch mesh:D000750 semapv:UnspecifiedMatching MONDO:0005870 necatoriasis skos:exactMatch DOID:2790 necatoriasis semapv:UnspecifiedMatching MONDO:0005870 necatoriasis skos:exactMatch ICD10CM:B76.1 Necatoriasis semapv:UnspecifiedMatching MONDO:0005870 necatoriasis skos:exactMatch NCIT:C34838 Necatoriasis semapv:UnspecifiedMatching MONDO:0005870 necatoriasis skos:exactMatch SCTID:36667009 semapv:UnspecifiedMatching MONDO:0005870 necatoriasis skos:exactMatch UMLS:C0027528 semapv:UnspecifiedMatching MONDO:0005870 necatoriasis skos:exactMatch mesh:D009332 semapv:UnspecifiedMatching MONDO:0005871 Nematoda infectious disease skos:exactMatch SCTID:84706005 semapv:UnspecifiedMatching MONDO:0005871 Nematoda infectious disease skos:exactMatch UMLS:C0027583 semapv:UnspecifiedMatching MONDO:0005871 Nematoda infectious disease skos:exactMatch mesh:D009349 semapv:UnspecifiedMatching MONDO:0005872 nervous system cancer skos:exactMatch DOID:3093 nervous system cancer semapv:UnspecifiedMatching MONDO:0005872 nervous system cancer skos:exactMatch NCIT:C4788 Malignant Nervous System Neoplasm semapv:UnspecifiedMatching MONDO:0005872 nervous system cancer skos:exactMatch SCTID:372063002 semapv:UnspecifiedMatching MONDO:0005872 nervous system cancer skos:exactMatch mesh:D009423 semapv:UnspecifiedMatching MONDO:0005873 neuroaspergillosis skos:exactMatch DOID:13565 neuroaspergillosis semapv:UnspecifiedMatching MONDO:0005873 neuroaspergillosis skos:exactMatch UMLS:C0752342 semapv:UnspecifiedMatching MONDO:0005873 neuroaspergillosis skos:exactMatch mesh:D020953 semapv:UnspecifiedMatching MONDO:0005874 neuroschistosomiasis skos:exactMatch DOID:13722 neuroschistosomiasis semapv:UnspecifiedMatching MONDO:0005874 neuroschistosomiasis skos:exactMatch UMLS:C0752191 semapv:UnspecifiedMatching MONDO:0005874 neuroschistosomiasis skos:exactMatch mesh:D020818 semapv:UnspecifiedMatching MONDO:0005875 Newcastle disease skos:exactMatch DOID:2929 Newcastle disease semapv:UnspecifiedMatching MONDO:0005875 Newcastle disease skos:exactMatch NCIT:C34849 Newcastle Disease semapv:UnspecifiedMatching MONDO:0005875 Newcastle disease skos:exactMatch UMLS:C0027983 semapv:UnspecifiedMatching MONDO:0005875 Newcastle disease skos:exactMatch mesh:D009521 semapv:UnspecifiedMatching MONDO:0005876 Nidovirales infectious disease skos:exactMatch UMLS:C0969753 semapv:UnspecifiedMatching MONDO:0005876 Nidovirales infectious disease skos:exactMatch mesh:D030341 semapv:UnspecifiedMatching MONDO:0005878 ocular onchocerciasis skos:exactMatch NCIT:C34862 Ocular Onchocerciasis semapv:UnspecifiedMatching MONDO:0005878 ocular onchocerciasis skos:exactMatch SCTID:240842000 semapv:UnspecifiedMatching MONDO:0005878 ocular onchocerciasis skos:exactMatch UMLS:C0029002 semapv:UnspecifiedMatching MONDO:0005878 ocular onchocerciasis skos:exactMatch mesh:D015827 semapv:UnspecifiedMatching MONDO:0005879 ocular toxoplasmosis skos:exactMatch SCTID:416481006 semapv:UnspecifiedMatching MONDO:0005879 ocular toxoplasmosis skos:exactMatch UMLS:C0040561 semapv:UnspecifiedMatching MONDO:0005879 ocular toxoplasmosis skos:exactMatch mesh:D014126 semapv:UnspecifiedMatching MONDO:0005880 oesophagostomiasis skos:exactMatch DOID:3983 oesophagostomiasis semapv:UnspecifiedMatching MONDO:0005880 oesophagostomiasis skos:exactMatch SCTID:22500005 semapv:UnspecifiedMatching MONDO:0005880 oesophagostomiasis skos:exactMatch UMLS:C0028887 semapv:UnspecifiedMatching MONDO:0005880 oesophagostomiasis skos:exactMatch mesh:D009814 semapv:UnspecifiedMatching MONDO:0005881 oligohydramnios skos:exactMatch DOID:12215 oligohydramnios semapv:UnspecifiedMatching MONDO:0005881 oligohydramnios skos:exactMatch SCTID:59566000 semapv:UnspecifiedMatching MONDO:0005881 oligohydramnios skos:exactMatch mesh:D016104 semapv:UnspecifiedMatching MONDO:0005883 ophthalmic herpes zoster skos:exactMatch SCTID:87513003 semapv:UnspecifiedMatching MONDO:0005883 ophthalmic herpes zoster skos:exactMatch UMLS:C0019364 semapv:UnspecifiedMatching MONDO:0005883 ophthalmic herpes zoster skos:exactMatch mesh:D006563 semapv:UnspecifiedMatching MONDO:0005884 opisthorchiasis skos:exactMatch DOID:13768 opisthorchiasis semapv:UnspecifiedMatching MONDO:0005884 opisthorchiasis skos:exactMatch ICD10CM:B66.0 Opisthorchiasis semapv:UnspecifiedMatching MONDO:0005884 opisthorchiasis skos:exactMatch SCTID:1059007 semapv:UnspecifiedMatching MONDO:0005884 opisthorchiasis skos:exactMatch UMLS:C0029106 semapv:UnspecifiedMatching MONDO:0005884 opisthorchiasis skos:exactMatch mesh:D009889 semapv:UnspecifiedMatching MONDO:0005885 optic neuritis skos:exactMatch DOID:1210 optic neuritis semapv:UnspecifiedMatching MONDO:0005885 optic neuritis skos:exactMatch ICD10CM:H46 Optic neuritis semapv:UnspecifiedMatching MONDO:0005885 optic neuritis skos:exactMatch NCIT:C84950 Optic Neuritis semapv:UnspecifiedMatching MONDO:0005885 optic neuritis skos:exactMatch SCTID:66760008 semapv:UnspecifiedMatching MONDO:0005885 optic neuritis skos:exactMatch mesh:D009902 semapv:UnspecifiedMatching MONDO:0005886 oral candidiasis skos:exactMatch DOID:14262 oral candidiasis semapv:UnspecifiedMatching MONDO:0005886 oral candidiasis skos:exactMatch NCIT:C28137 Oral Candidiasis semapv:UnspecifiedMatching MONDO:0005886 oral candidiasis skos:exactMatch SCTID:79740000 semapv:UnspecifiedMatching MONDO:0005886 oral candidiasis skos:exactMatch UMLS:C0006849 semapv:UnspecifiedMatching MONDO:0005886 oral candidiasis skos:exactMatch mesh:D002180 semapv:UnspecifiedMatching MONDO:0005887 oral tuberculosis skos:exactMatch DOID:402 oral tuberculosis semapv:UnspecifiedMatching MONDO:0005887 oral tuberculosis skos:exactMatch SCTID:235067001 semapv:UnspecifiedMatching MONDO:0005887 oral tuberculosis skos:exactMatch UMLS:C0041323 semapv:UnspecifiedMatching MONDO:0005887 oral tuberculosis skos:exactMatch mesh:D014393 semapv:UnspecifiedMatching MONDO:0005888 ornithosis skos:exactMatch DOID:11262 ornithosis semapv:UnspecifiedMatching MONDO:0005888 ornithosis skos:exactMatch NCIT:C34873 Ornithosis semapv:UnspecifiedMatching MONDO:0005888 ornithosis skos:exactMatch SCTID:75116005 semapv:UnspecifiedMatching MONDO:0005888 ornithosis skos:exactMatch UMLS:C0029291 semapv:UnspecifiedMatching MONDO:0005888 ornithosis skos:exactMatch mesh:D009956 semapv:UnspecifiedMatching MONDO:0005890 osteitis fibrosa skos:exactMatch DOID:3341 osteitis fibrosa semapv:UnspecifiedMatching MONDO:0005890 osteitis fibrosa skos:exactMatch NCIT:C34875 Osteitis Fibrosa Cystica semapv:UnspecifiedMatching MONDO:0005890 osteitis fibrosa skos:exactMatch SCTID:84727000 semapv:UnspecifiedMatching MONDO:0005890 osteitis fibrosa skos:exactMatch UMLS:C0029405 semapv:UnspecifiedMatching MONDO:0005890 osteitis fibrosa skos:exactMatch mesh:D010002 semapv:UnspecifiedMatching MONDO:0005891 ostertagiasis skos:exactMatch DOID:3985 ostertagiasis semapv:UnspecifiedMatching MONDO:0005891 ostertagiasis skos:exactMatch UMLS:C0029471 semapv:UnspecifiedMatching MONDO:0005891 ostertagiasis skos:exactMatch mesh:D010029 semapv:UnspecifiedMatching MONDO:0005892 otitis media with effusion skos:exactMatch NCIT:C34886 Secretory Otitis Media semapv:UnspecifiedMatching MONDO:0005892 otitis media with effusion skos:exactMatch SCTID:78868004 semapv:UnspecifiedMatching MONDO:0005892 otitis media with effusion skos:exactMatch mesh:D010034 semapv:UnspecifiedMatching MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch DOID:1798 pancreatic endocrine carcinoma semapv:UnspecifiedMatching MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch ICD10CM:C25.4 Malignant neoplasm of endocrine pancreas semapv:UnspecifiedMatching MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch NCIT:C3770 Pancreatic Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch Orphanet:506098 Neuroendocrine carcinoma of pancreas semapv:UnspecifiedMatching MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch SCTID:254612002 semapv:UnspecifiedMatching MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch UMLS:C1328479 semapv:UnspecifiedMatching MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch mesh:D018273 semapv:UnspecifiedMatching MONDO:0005894 paracoccidioidomycosis skos:exactMatch DOID:12662 paracoccidioidomycosis semapv:UnspecifiedMatching MONDO:0005894 paracoccidioidomycosis skos:exactMatch ICD10CM:B41 Paracoccidioidomycosis semapv:UnspecifiedMatching MONDO:0005894 paracoccidioidomycosis skos:exactMatch NCIT:C34891 Paracoccidioidomycosis semapv:UnspecifiedMatching MONDO:0005894 paracoccidioidomycosis skos:exactMatch Orphanet:73260 Paracoccidioidomycosis semapv:UnspecifiedMatching MONDO:0005894 paracoccidioidomycosis skos:exactMatch SCTID:36866003 semapv:UnspecifiedMatching MONDO:0005894 paracoccidioidomycosis skos:exactMatch UMLS:C0030409 semapv:UnspecifiedMatching MONDO:0005894 paracoccidioidomycosis skos:exactMatch mesh:D010229 semapv:UnspecifiedMatching MONDO:0005895 paragonimiasis skos:exactMatch DOID:10699 paragonimiasis semapv:UnspecifiedMatching MONDO:0005895 paragonimiasis skos:exactMatch ICD10CM:B66.4 Paragonimiasis semapv:UnspecifiedMatching MONDO:0005895 paragonimiasis skos:exactMatch NCIT:C84995 Paragonimiasis semapv:UnspecifiedMatching MONDO:0005895 paragonimiasis skos:exactMatch SCTID:30369007 semapv:UnspecifiedMatching MONDO:0005895 paragonimiasis skos:exactMatch UMLS:C0030424 semapv:UnspecifiedMatching MONDO:0005895 paragonimiasis skos:exactMatch mesh:D010237 semapv:UnspecifiedMatching MONDO:0005896 Paramyxoviridae infectious disease skos:exactMatch mesh:D018184 semapv:UnspecifiedMatching MONDO:0005898 paronychia skos:exactMatch DOID:13117 paronychia semapv:UnspecifiedMatching MONDO:0005898 paronychia skos:exactMatch NCIT:C79702 Paronychia semapv:UnspecifiedMatching MONDO:0005898 paronychia skos:exactMatch SCTID:71906005 semapv:UnspecifiedMatching MONDO:0005898 paronychia skos:exactMatch UMLS:C0030578 semapv:UnspecifiedMatching MONDO:0005898 paronychia skos:exactMatch mesh:D010304 semapv:UnspecifiedMatching MONDO:0005899 parotid disorder skos:exactMatch DOID:10302 parotid disease semapv:UnspecifiedMatching MONDO:0005899 parotid disorder skos:exactMatch UMLS:C0030579 semapv:UnspecifiedMatching MONDO:0005899 parotid disorder skos:exactMatch mesh:D010305 semapv:UnspecifiedMatching MONDO:0005900 parotitis skos:exactMatch DOID:10301 parotitis semapv:UnspecifiedMatching MONDO:0005900 parotitis skos:exactMatch NCIT:C114281 Parotitis semapv:UnspecifiedMatching MONDO:0005900 parotitis skos:exactMatch SCTID:14756005 semapv:UnspecifiedMatching MONDO:0005900 parotitis skos:exactMatch UMLS:C0030583 semapv:UnspecifiedMatching MONDO:0005900 parotitis skos:exactMatch mesh:D010309 semapv:UnspecifiedMatching MONDO:0005901 pasteurellosis skos:exactMatch DOID:11055 pasteurellosis semapv:UnspecifiedMatching MONDO:0005901 pasteurellosis skos:exactMatch ICD10CM:A28.0 Pasteurellosis semapv:UnspecifiedMatching MONDO:0005901 pasteurellosis skos:exactMatch SCTID:83172007 semapv:UnspecifiedMatching MONDO:0005901 pasteurellosis skos:exactMatch UMLS:C0030636 semapv:UnspecifiedMatching MONDO:0005901 pasteurellosis skos:exactMatch mesh:D010326 semapv:UnspecifiedMatching MONDO:0005902 obsolete peanut allergic reaction skos:exactMatch DOID:4378 peanut allergy semapv:UnspecifiedMatching MONDO:0005902 obsolete peanut allergic reaction skos:exactMatch SCTID:91935009 semapv:UnspecifiedMatching MONDO:0005902 obsolete peanut allergic reaction skos:exactMatch UMLS:C0559470 semapv:UnspecifiedMatching MONDO:0005902 obsolete peanut allergic reaction skos:exactMatch mesh:D021183 semapv:UnspecifiedMatching MONDO:0005903 pericardial tuberculosis skos:exactMatch DOID:4962 pericardial tuberculosis semapv:UnspecifiedMatching MONDO:0005903 pericardial tuberculosis skos:exactMatch SCTID:67256000 semapv:UnspecifiedMatching MONDO:0005903 pericardial tuberculosis skos:exactMatch UMLS:C0031049 semapv:UnspecifiedMatching MONDO:0005903 pericardial tuberculosis skos:exactMatch mesh:D010495 semapv:UnspecifiedMatching MONDO:0005904 pericarditis skos:exactMatch DOID:1787 pericarditis semapv:UnspecifiedMatching MONDO:0005904 pericarditis skos:exactMatch NCIT:C34915 Pericarditis semapv:UnspecifiedMatching MONDO:0005904 pericarditis skos:exactMatch SCTID:3238004 semapv:UnspecifiedMatching MONDO:0005904 pericarditis skos:exactMatch UMLS:C0031046 semapv:UnspecifiedMatching MONDO:0005904 pericarditis skos:exactMatch mesh:D010493 semapv:UnspecifiedMatching MONDO:0005905 periodic limb movement disorder skos:exactMatch DOID:9207 periodic limb movement disorder semapv:UnspecifiedMatching MONDO:0005905 periodic limb movement disorder skos:exactMatch ICD10CM:G47.61 Periodic limb movement disorder semapv:UnspecifiedMatching MONDO:0005905 periodic limb movement disorder skos:exactMatch SCTID:418763003 semapv:UnspecifiedMatching MONDO:0005905 periodic limb movement disorder skos:exactMatch UMLS:C0751774 semapv:UnspecifiedMatching MONDO:0005906 peritonsillar abscess skos:exactMatch ICD10CM:J36 Peritonsillar abscess semapv:UnspecifiedMatching MONDO:0005906 peritonsillar abscess skos:exactMatch NCIT:C128322 Peritonsillar Abscess semapv:UnspecifiedMatching MONDO:0005906 peritonsillar abscess skos:exactMatch SCTID:15033003 semapv:UnspecifiedMatching MONDO:0005906 peritonsillar abscess skos:exactMatch UMLS:C0031157 semapv:UnspecifiedMatching MONDO:0005906 peritonsillar abscess skos:exactMatch mesh:D000039 semapv:UnspecifiedMatching MONDO:0005907 persian gulf syndrome skos:exactMatch DOID:4491 persian gulf syndrome semapv:UnspecifiedMatching MONDO:0005907 persian gulf syndrome skos:exactMatch SCTID:95877004 semapv:UnspecifiedMatching MONDO:0005907 persian gulf syndrome skos:exactMatch UMLS:C0282550 semapv:UnspecifiedMatching MONDO:0005907 persian gulf syndrome skos:exactMatch mesh:D018923 semapv:UnspecifiedMatching MONDO:0005908 peste des petits ruminants infectious disease skos:exactMatch UMLS:C0949885 semapv:UnspecifiedMatching MONDO:0005908 peste des petits ruminants infectious disease skos:exactMatch mesh:D029021 semapv:UnspecifiedMatching MONDO:0005909 pestivirus infectious disease skos:exactMatch UMLS:C0206611 semapv:UnspecifiedMatching MONDO:0005909 pestivirus infectious disease skos:exactMatch mesh:D018182 semapv:UnspecifiedMatching MONDO:0005910 phagocyte bactericidal dysfunction skos:exactMatch DOID:3262 phagocyte bactericidal dysfunction semapv:UnspecifiedMatching MONDO:0005910 phagocyte bactericidal dysfunction skos:exactMatch UMLS:C0031306 semapv:UnspecifiedMatching MONDO:0005910 phagocyte bactericidal dysfunction skos:exactMatch mesh:D010585 semapv:UnspecifiedMatching MONDO:0005911 pharyngoconjunctival fever skos:exactMatch DOID:13801 pharyngoconjunctival fever semapv:UnspecifiedMatching MONDO:0005911 pharyngoconjunctival fever skos:exactMatch NCIT:C34924 Pharyngoconjunctival Fever semapv:UnspecifiedMatching MONDO:0005911 pharyngoconjunctival fever skos:exactMatch SCTID:70385007 semapv:UnspecifiedMatching MONDO:0005911 pharyngoconjunctival fever skos:exactMatch UMLS:C0031351 semapv:UnspecifiedMatching MONDO:0005911 pharyngoconjunctival fever skos:exactMatch mesh:D000258 semapv:UnspecifiedMatching MONDO:0005912 phencyclidine abuse skos:exactMatch DOID:5062 phencyclidine abuse semapv:UnspecifiedMatching MONDO:0005912 phencyclidine abuse skos:exactMatch SCTID:7071007 semapv:UnspecifiedMatching MONDO:0005912 phencyclidine abuse skos:exactMatch mesh:D010623 semapv:UnspecifiedMatching MONDO:0005913 phlebotomus fever skos:exactMatch DOID:11360 Phlebotomus fever semapv:UnspecifiedMatching MONDO:0005913 phlebotomus fever skos:exactMatch ICD10CM:A93.1 Sandfly fever semapv:UnspecifiedMatching MONDO:0005913 phlebotomus fever skos:exactMatch SCTID:407476002 semapv:UnspecifiedMatching MONDO:0005913 phlebotomus fever skos:exactMatch UMLS:C0030372 semapv:UnspecifiedMatching MONDO:0005913 phlebotomus fever skos:exactMatch mesh:D010217 semapv:UnspecifiedMatching MONDO:0005914 Picornaviridae infectious disease skos:exactMatch UMLS:C0031887 semapv:UnspecifiedMatching MONDO:0005914 Picornaviridae infectious disease skos:exactMatch mesh:D010850 semapv:UnspecifiedMatching MONDO:0005915 pityriasis versicolor skos:exactMatch DOID:9060 pityriasis versicolor semapv:UnspecifiedMatching MONDO:0005915 pityriasis versicolor skos:exactMatch ICD10CM:B36.0 Pityriasis versicolor semapv:UnspecifiedMatching MONDO:0005915 pityriasis versicolor skos:exactMatch NCIT:C82981 Malassezia furfur Infection semapv:UnspecifiedMatching MONDO:0005915 pityriasis versicolor skos:exactMatch SCTID:56454009 semapv:UnspecifiedMatching MONDO:0005915 pityriasis versicolor skos:exactMatch UMLS:C0040262 semapv:UnspecifiedMatching MONDO:0005915 pityriasis versicolor skos:exactMatch mesh:D014010 semapv:UnspecifiedMatching MONDO:0005916 placenta accreta skos:exactMatch DOID:4744 placenta accreta semapv:UnspecifiedMatching MONDO:0005916 placenta accreta skos:exactMatch NCIT:C26856 Placenta Accreta semapv:UnspecifiedMatching MONDO:0005916 placenta accreta skos:exactMatch SCTID:70129008 semapv:UnspecifiedMatching MONDO:0005916 placenta accreta skos:exactMatch mesh:D010921 semapv:UnspecifiedMatching MONDO:0005917 placenta disorder skos:exactMatch DOID:780 placenta disease semapv:UnspecifiedMatching MONDO:0005917 placenta disorder skos:exactMatch NCIT:C26857 Placenta Disorder semapv:UnspecifiedMatching MONDO:0005917 placenta disorder skos:exactMatch SCTID:125586008 semapv:UnspecifiedMatching MONDO:0005917 placenta disorder skos:exactMatch mesh:D010922 semapv:UnspecifiedMatching MONDO:0005918 placenta praevia skos:exactMatch DOID:11060 placenta praevia semapv:UnspecifiedMatching MONDO:0005918 placenta praevia skos:exactMatch NCIT:C26858 Placenta Previa semapv:UnspecifiedMatching MONDO:0005918 placenta praevia skos:exactMatch SCTID:36813001 semapv:UnspecifiedMatching MONDO:0005918 placenta praevia skos:exactMatch mesh:D010923 semapv:UnspecifiedMatching MONDO:0005919 placental insufficiency skos:exactMatch DOID:3891 placental insufficiency semapv:UnspecifiedMatching MONDO:0005919 placental insufficiency skos:exactMatch Orphanet:439167 Placental insufficiency semapv:UnspecifiedMatching MONDO:0005919 placental insufficiency skos:exactMatch SCTID:237292005 semapv:UnspecifiedMatching MONDO:0005919 placental insufficiency skos:exactMatch UMLS:C0032051 semapv:UnspecifiedMatching MONDO:0005919 placental insufficiency skos:exactMatch mesh:D010927 semapv:UnspecifiedMatching MONDO:0005920 Plasmodium falciparum malaria skos:exactMatch DOID:14067 Plasmodium falciparum malaria semapv:UnspecifiedMatching MONDO:0005920 Plasmodium falciparum malaria skos:exactMatch NCIT:C34798 Falciparum Malaria semapv:UnspecifiedMatching MONDO:0005920 Plasmodium falciparum malaria skos:exactMatch SCTID:62676009 semapv:UnspecifiedMatching MONDO:0005920 Plasmodium falciparum malaria skos:exactMatch UMLS:C0024535 semapv:UnspecifiedMatching MONDO:0005920 Plasmodium falciparum malaria skos:exactMatch mesh:D016778 semapv:UnspecifiedMatching MONDO:0005921 Plasmodium vivax malaria skos:exactMatch DOID:12978 Plasmodium vivax malaria semapv:UnspecifiedMatching MONDO:0005921 Plasmodium vivax malaria skos:exactMatch ICD10CM:B51 Plasmodium vivax malaria semapv:UnspecifiedMatching MONDO:0005921 Plasmodium vivax malaria skos:exactMatch NCIT:C34800 Vivax Malaria semapv:UnspecifiedMatching MONDO:0005921 Plasmodium vivax malaria skos:exactMatch SCTID:27052006 semapv:UnspecifiedMatching MONDO:0005921 Plasmodium vivax malaria skos:exactMatch UMLS:C0024537 semapv:UnspecifiedMatching MONDO:0005921 Plasmodium vivax malaria skos:exactMatch mesh:D016780 semapv:UnspecifiedMatching MONDO:0005922 pleural tuberculosis skos:exactMatch DOID:106 pleural tuberculosis semapv:UnspecifiedMatching MONDO:0005922 pleural tuberculosis skos:exactMatch ICD10CM:A15.6 Tuberculous pleurisy semapv:UnspecifiedMatching MONDO:0005922 pleural tuberculosis skos:exactMatch NCIT:C26898 Tuberculous Pleuritis semapv:UnspecifiedMatching MONDO:0005922 pleural tuberculosis skos:exactMatch SCTID:186172004 semapv:UnspecifiedMatching MONDO:0005922 pleural tuberculosis skos:exactMatch mesh:D014396 semapv:UnspecifiedMatching MONDO:0005923 Pneumocystis infectious disease skos:exactMatch UMLS:C0851886 semapv:UnspecifiedMatching MONDO:0005923 Pneumocystis infectious disease skos:exactMatch mesh:D016720 semapv:UnspecifiedMatching MONDO:0005925 pneumonic pasteurellosis skos:exactMatch UMLS:C0036969 semapv:UnspecifiedMatching MONDO:0005925 pneumonic pasteurellosis skos:exactMatch mesh:D012766 semapv:UnspecifiedMatching MONDO:0005927 polyomavirus infectious disease skos:exactMatch UMLS:C0949804 semapv:UnspecifiedMatching MONDO:0005927 polyomavirus infectious disease skos:exactMatch mesh:D027601 semapv:UnspecifiedMatching MONDO:0005928 post-thrombotic syndrome skos:exactMatch DOID:2364 post-thrombotic syndrome semapv:UnspecifiedMatching MONDO:0005928 post-thrombotic syndrome skos:exactMatch ICD10CM:I87.0 Postthrombotic syndrome semapv:UnspecifiedMatching MONDO:0005928 post-thrombotic syndrome skos:exactMatch SCTID:20427003 semapv:UnspecifiedMatching MONDO:0005928 post-thrombotic syndrome skos:exactMatch mesh:D011186 semapv:UnspecifiedMatching MONDO:0005929 postpartum depression skos:exactMatch DOID:9478 postpartum depression semapv:UnspecifiedMatching MONDO:0005929 postpartum depression skos:exactMatch NCIT:C92852 Postpartum Depression semapv:UnspecifiedMatching MONDO:0005929 postpartum depression skos:exactMatch SCTID:279225001 semapv:UnspecifiedMatching MONDO:0005929 postpartum depression skos:exactMatch mesh:D019052 semapv:UnspecifiedMatching MONDO:0005932 pseudorabies skos:exactMatch UMLS:C0033839 semapv:UnspecifiedMatching MONDO:0005932 pseudorabies skos:exactMatch mesh:D011557 semapv:UnspecifiedMatching MONDO:0005933 pulmonary blastoma skos:exactMatch DOID:4765 pulmonary blastoma semapv:UnspecifiedMatching MONDO:0005933 pulmonary blastoma skos:exactMatch NCIT:C3732 Pulmonary Blastoma semapv:UnspecifiedMatching MONDO:0005933 pulmonary blastoma skos:exactMatch Orphanet:64741 Pulmonary blastoma semapv:UnspecifiedMatching MONDO:0005933 pulmonary blastoma skos:exactMatch SCTID:189815007 semapv:UnspecifiedMatching MONDO:0005933 pulmonary blastoma skos:exactMatch UMLS:C0206629 semapv:UnspecifiedMatching MONDO:0005933 pulmonary blastoma skos:exactMatch mesh:D018202 semapv:UnspecifiedMatching MONDO:0005936 recurrent pneumonia skos:exactMatch SCTID:699014000 semapv:UnspecifiedMatching MONDO:0005937 REM sleep behavior disorder skos:exactMatch DOID:9091 REM sleep behavior disorder semapv:UnspecifiedMatching MONDO:0005937 REM sleep behavior disorder skos:exactMatch ICD10CM:G47.52 REM sleep behavior disorder semapv:UnspecifiedMatching MONDO:0005937 REM sleep behavior disorder skos:exactMatch SCTID:415238003 semapv:UnspecifiedMatching MONDO:0005937 REM sleep behavior disorder skos:exactMatch mesh:D020187 semapv:UnspecifiedMatching MONDO:0005938 renal tuberculosis skos:exactMatch DOID:9733 renal tuberculosis semapv:UnspecifiedMatching MONDO:0005938 renal tuberculosis skos:exactMatch NCIT:C123020 Renal Tuberculosis semapv:UnspecifiedMatching MONDO:0005938 renal tuberculosis skos:exactMatch SCTID:44323002 semapv:UnspecifiedMatching MONDO:0005938 renal tuberculosis skos:exactMatch UMLS:C0041328 semapv:UnspecifiedMatching MONDO:0005938 renal tuberculosis skos:exactMatch mesh:D014398 semapv:UnspecifiedMatching MONDO:0005939 Reoviridae infectious disease skos:exactMatch UMLS:C0035112 semapv:UnspecifiedMatching MONDO:0005939 Reoviridae infectious disease skos:exactMatch mesh:D012088 semapv:UnspecifiedMatching MONDO:0005940 respirovirus infectious disease skos:exactMatch UMLS:C3714630 semapv:UnspecifiedMatching MONDO:0005940 respirovirus infectious disease skos:exactMatch mesh:D010253 semapv:UnspecifiedMatching MONDO:0005941 retroperitoneal cancer skos:exactMatch DOID:5875 retroperitoneal cancer semapv:UnspecifiedMatching MONDO:0005941 retroperitoneal cancer skos:exactMatch NCIT:C3537 Malignant Retroperitoneal Neoplasm semapv:UnspecifiedMatching MONDO:0005941 retroperitoneal cancer skos:exactMatch SCTID:126872008 semapv:UnspecifiedMatching MONDO:0005941 retroperitoneal cancer skos:exactMatch mesh:D012186 semapv:UnspecifiedMatching MONDO:0005942 Reye syndrome skos:exactMatch DOID:14525 Reye syndrome semapv:UnspecifiedMatching MONDO:0005942 Reye syndrome skos:exactMatch NCIT:C34983 Reye Syndrome semapv:UnspecifiedMatching MONDO:0005942 Reye syndrome skos:exactMatch Orphanet:3096 Reye syndrome semapv:UnspecifiedMatching MONDO:0005942 Reye syndrome skos:exactMatch SCTID:74351001 semapv:UnspecifiedMatching MONDO:0005942 Reye syndrome skos:exactMatch UMLS:C0035400 semapv:UnspecifiedMatching MONDO:0005942 Reye syndrome skos:exactMatch mesh:D012202 semapv:UnspecifiedMatching MONDO:0005943 Rhabditida infectious disease skos:exactMatch UMLS:C0162631 semapv:UnspecifiedMatching MONDO:0005943 Rhabditida infectious disease skos:exactMatch mesh:D017196 semapv:UnspecifiedMatching MONDO:0005944 Rhabdoviridae infectious disease skos:exactMatch UMLS:C0206751 semapv:UnspecifiedMatching MONDO:0005944 Rhabdoviridae infectious disease skos:exactMatch mesh:D018353 semapv:UnspecifiedMatching MONDO:0005945 rhinoscleroma skos:exactMatch DOID:11336 rhinoscleroma semapv:UnspecifiedMatching MONDO:0005945 rhinoscleroma skos:exactMatch SCTID:72409005 semapv:UnspecifiedMatching MONDO:0005945 rhinoscleroma skos:exactMatch UMLS:C0035468 semapv:UnspecifiedMatching MONDO:0005945 rhinoscleroma skos:exactMatch mesh:D012226 semapv:UnspecifiedMatching MONDO:0005946 rhinosporidiosis skos:exactMatch DOID:2409 rhinosporidiosis semapv:UnspecifiedMatching MONDO:0005946 rhinosporidiosis skos:exactMatch ICD10CM:B48.1 Rhinosporidiosis semapv:UnspecifiedMatching MONDO:0005946 rhinosporidiosis skos:exactMatch SCTID:18140003 semapv:UnspecifiedMatching MONDO:0005946 rhinosporidiosis skos:exactMatch UMLS:C0035469 semapv:UnspecifiedMatching MONDO:0005946 rhinosporidiosis skos:exactMatch mesh:D012227 semapv:UnspecifiedMatching MONDO:0005947 rickettsial pneumonia skos:exactMatch SCTID:233621003 semapv:UnspecifiedMatching MONDO:0005947 rickettsial pneumonia skos:exactMatch UMLS:C0032307 semapv:UnspecifiedMatching MONDO:0005947 rickettsial pneumonia skos:exactMatch mesh:D011022 semapv:UnspecifiedMatching MONDO:0005949 roseolovirus infectious disease skos:exactMatch UMLS:C0376549 semapv:UnspecifiedMatching MONDO:0005949 roseolovirus infectious disease skos:exactMatch mesh:D019349 semapv:UnspecifiedMatching MONDO:0005950 Salmonella gastroenteritis skos:exactMatch SCTID:42338000 semapv:UnspecifiedMatching MONDO:0005950 Salmonella gastroenteritis skos:exactMatch mesh:D012478 semapv:UnspecifiedMatching MONDO:0005952 scarlet fever skos:exactMatch DOID:8596 scarlet fever semapv:UnspecifiedMatching MONDO:0005952 scarlet fever skos:exactMatch ICD10CM:A38 Scarlet fever semapv:UnspecifiedMatching MONDO:0005952 scarlet fever skos:exactMatch NCIT:C94575 Scarlet Fever semapv:UnspecifiedMatching MONDO:0005952 scarlet fever skos:exactMatch SCTID:30242009 semapv:UnspecifiedMatching MONDO:0005952 scarlet fever skos:exactMatch UMLS:C0036285 semapv:UnspecifiedMatching MONDO:0005952 scarlet fever skos:exactMatch mesh:D012541 semapv:UnspecifiedMatching MONDO:0005953 scirrhous adenocarcinoma skos:exactMatch DOID:4024 scirrhous adenocarcinoma semapv:UnspecifiedMatching MONDO:0005953 scirrhous adenocarcinoma skos:exactMatch NCIT:C2928 Scirrhous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0005953 scirrhous adenocarcinoma skos:exactMatch UMLS:C0007135 semapv:UnspecifiedMatching MONDO:0005953 scirrhous adenocarcinoma skos:exactMatch mesh:D002293 semapv:UnspecifiedMatching MONDO:0005954 screw worm infectious disease skos:exactMatch DOID:12927 screw worm infectious disease semapv:UnspecifiedMatching MONDO:0005954 screw worm infectious disease skos:exactMatch mesh:D012610 semapv:UnspecifiedMatching MONDO:0005956 septicemic plague skos:exactMatch DOID:3481 septicemic plague semapv:UnspecifiedMatching MONDO:0005956 septicemic plague skos:exactMatch ICD10CM:A20.7 Septicemic plague semapv:UnspecifiedMatching MONDO:0005956 septicemic plague skos:exactMatch SCTID:9012003 semapv:UnspecifiedMatching MONDO:0005956 septicemic plague skos:exactMatch UMLS:C0152936 semapv:UnspecifiedMatching MONDO:0005957 setariasis skos:exactMatch DOID:1079 setariasis semapv:UnspecifiedMatching MONDO:0005957 setariasis skos:exactMatch SCTID:4414005 semapv:UnspecifiedMatching MONDO:0005957 setariasis skos:exactMatch UMLS:C0036850 semapv:UnspecifiedMatching MONDO:0005957 setariasis skos:exactMatch mesh:D012719 semapv:UnspecifiedMatching MONDO:0005959 sick building syndrome skos:exactMatch DOID:2710 sick building syndrome semapv:UnspecifiedMatching MONDO:0005959 sick building syndrome skos:exactMatch SCTID:19076009 semapv:UnspecifiedMatching MONDO:0005959 sick building syndrome skos:exactMatch UMLS:C0037050 semapv:UnspecifiedMatching MONDO:0005959 sick building syndrome skos:exactMatch mesh:D018877 semapv:UnspecifiedMatching MONDO:0005960 silicosis skos:exactMatch DOID:10325 silicosis semapv:UnspecifiedMatching MONDO:0005960 silicosis skos:exactMatch NCIT:C3369 Silicosis semapv:UnspecifiedMatching MONDO:0005960 silicosis skos:exactMatch SCTID:805002 semapv:UnspecifiedMatching MONDO:0005960 silicosis skos:exactMatch UMLS:C0037116 semapv:UnspecifiedMatching MONDO:0005960 silicosis skos:exactMatch mesh:D012829 semapv:UnspecifiedMatching MONDO:0005961 sinusitis skos:exactMatch DOID:0050127 sinusitis semapv:UnspecifiedMatching MONDO:0005961 sinusitis skos:exactMatch NCIT:C35024 Sinusitis semapv:UnspecifiedMatching MONDO:0005961 sinusitis skos:exactMatch SCTID:36971009 semapv:UnspecifiedMatching MONDO:0005961 sinusitis skos:exactMatch UMLS:C0037199 semapv:UnspecifiedMatching MONDO:0005961 sinusitis skos:exactMatch mesh:D012852 semapv:UnspecifiedMatching MONDO:0005962 skeletal tuberculosis skos:exactMatch DOID:1639 skeletal tuberculosis semapv:UnspecifiedMatching MONDO:0005962 skeletal tuberculosis skos:exactMatch SCTID:17653001 semapv:UnspecifiedMatching MONDO:0005962 skeletal tuberculosis skos:exactMatch UMLS:C0041324 semapv:UnspecifiedMatching MONDO:0005962 skeletal tuberculosis skos:exactMatch mesh:D014394 semapv:UnspecifiedMatching MONDO:0005963 sparganosis skos:exactMatch DOID:10080 sparganosis semapv:UnspecifiedMatching MONDO:0005963 sparganosis skos:exactMatch ICD10CM:B70.1 Sparganosis semapv:UnspecifiedMatching MONDO:0005963 sparganosis skos:exactMatch NCIT:C35030 Sparganosis semapv:UnspecifiedMatching MONDO:0005963 sparganosis skos:exactMatch SCTID:31659000 semapv:UnspecifiedMatching MONDO:0005963 sparganosis skos:exactMatch UMLS:C0037753 semapv:UnspecifiedMatching MONDO:0005963 sparganosis skos:exactMatch mesh:D013031 semapv:UnspecifiedMatching MONDO:0005964 sphenoid sinusitis skos:exactMatch DOID:10794 sphenoid sinusitis semapv:UnspecifiedMatching MONDO:0005964 sphenoid sinusitis skos:exactMatch NCIT:C35031 Sphenoidal Sinusitis semapv:UnspecifiedMatching MONDO:0005964 sphenoid sinusitis skos:exactMatch SCTID:13266007 semapv:UnspecifiedMatching MONDO:0005964 sphenoid sinusitis skos:exactMatch UMLS:C0037886 semapv:UnspecifiedMatching MONDO:0005964 sphenoid sinusitis skos:exactMatch mesh:D015524 semapv:UnspecifiedMatching MONDO:0005965 spinal stenosis skos:exactMatch DOID:6725 spinal stenosis semapv:UnspecifiedMatching MONDO:0005965 spinal stenosis skos:exactMatch NCIT:C177444 Spinal Stenosis semapv:UnspecifiedMatching MONDO:0005965 spinal stenosis skos:exactMatch SCTID:76107001 semapv:UnspecifiedMatching MONDO:0005965 spinal stenosis skos:exactMatch mesh:D013130 semapv:UnspecifiedMatching MONDO:0005966 spleen cancer skos:exactMatch DOID:672 spleen cancer semapv:UnspecifiedMatching MONDO:0005966 spleen cancer skos:exactMatch ICD10CM:C26.1 Malignant neoplasm of spleen semapv:UnspecifiedMatching MONDO:0005966 spleen cancer skos:exactMatch NCIT:C3539 Malignant Splenic Neoplasm semapv:UnspecifiedMatching MONDO:0005966 spleen cancer skos:exactMatch SCTID:127230005 semapv:UnspecifiedMatching MONDO:0005966 spleen cancer skos:exactMatch mesh:D013160 semapv:UnspecifiedMatching MONDO:0005967 splenic tuberculosis skos:exactMatch DOID:9305 splenic tuberculosis semapv:UnspecifiedMatching MONDO:0005967 splenic tuberculosis skos:exactMatch SCTID:28399005 semapv:UnspecifiedMatching MONDO:0005967 splenic tuberculosis skos:exactMatch UMLS:C0041331 semapv:UnspecifiedMatching MONDO:0005967 splenic tuberculosis skos:exactMatch mesh:D014400 semapv:UnspecifiedMatching MONDO:0005968 sporotrichosis skos:exactMatch DOID:14484 sporotrichosis semapv:UnspecifiedMatching MONDO:0005968 sporotrichosis skos:exactMatch ICD10CM:B42 Sporotrichosis semapv:UnspecifiedMatching MONDO:0005968 sporotrichosis skos:exactMatch Orphanet:826 Sporotrichosis semapv:UnspecifiedMatching MONDO:0005968 sporotrichosis skos:exactMatch SCTID:42094007 semapv:UnspecifiedMatching MONDO:0005968 sporotrichosis skos:exactMatch UMLS:C0038034 semapv:UnspecifiedMatching MONDO:0005968 sporotrichosis skos:exactMatch mesh:D013174 semapv:UnspecifiedMatching MONDO:0005969 st. Louis encephalitis skos:exactMatch DOID:10845 St. Louis encephalitis semapv:UnspecifiedMatching MONDO:0005969 st. Louis encephalitis skos:exactMatch ICD10CM:A83.3 St Louis encephalitis semapv:UnspecifiedMatching MONDO:0005969 st. Louis encephalitis skos:exactMatch Orphanet:83484 St. Louis encephalitis semapv:UnspecifiedMatching MONDO:0005969 st. Louis encephalitis skos:exactMatch SCTID:417607009 semapv:UnspecifiedMatching MONDO:0005969 st. Louis encephalitis skos:exactMatch UMLS:C0014060 semapv:UnspecifiedMatching MONDO:0005969 st. Louis encephalitis skos:exactMatch mesh:D004674 semapv:UnspecifiedMatching MONDO:0005970 staphylococcal pneumonia skos:exactMatch SCTID:22754005 semapv:UnspecifiedMatching MONDO:0005970 staphylococcal pneumonia skos:exactMatch mesh:D011023 semapv:UnspecifiedMatching MONDO:0005971 staphyloenterotoxemia skos:exactMatch DOID:96 staphyloenterotoxemia semapv:UnspecifiedMatching MONDO:0005971 staphyloenterotoxemia skos:exactMatch NCIT:C35037 Staphylococcal Food Poisoning semapv:UnspecifiedMatching MONDO:0005971 staphyloenterotoxemia skos:exactMatch SCTID:84622004 semapv:UnspecifiedMatching MONDO:0005971 staphyloenterotoxemia skos:exactMatch UMLS:C0038159 semapv:UnspecifiedMatching MONDO:0005971 staphyloenterotoxemia skos:exactMatch mesh:D013202 semapv:UnspecifiedMatching MONDO:0005972 streptococcal pneumonia skos:exactMatch DOID:0040084 Streptococcus pneumonia semapv:UnspecifiedMatching MONDO:0005972 streptococcal pneumonia skos:exactMatch ICD10CM:J13 Pneumonia due to Streptococcus pneumoniae semapv:UnspecifiedMatching MONDO:0005972 streptococcal pneumonia skos:exactMatch SCTID:233607000 semapv:UnspecifiedMatching MONDO:0005972 streptococcal pneumonia skos:exactMatch UMLS:C0155862 semapv:UnspecifiedMatching MONDO:0005972 streptococcal pneumonia skos:exactMatch mesh:D011018 semapv:UnspecifiedMatching MONDO:0005973 Strongylida infectious disease skos:exactMatch mesh:D017206 semapv:UnspecifiedMatching MONDO:0005974 strongyloidiasis skos:exactMatch DOID:10955 strongyloidiasis semapv:UnspecifiedMatching MONDO:0005974 strongyloidiasis skos:exactMatch NCIT:C128398 Strongyloidiasis semapv:UnspecifiedMatching MONDO:0005974 strongyloidiasis skos:exactMatch Orphanet:76 Strongyloidiasis semapv:UnspecifiedMatching MONDO:0005974 strongyloidiasis skos:exactMatch SCTID:187176005 semapv:UnspecifiedMatching MONDO:0005974 strongyloidiasis skos:exactMatch UMLS:C0038463 semapv:UnspecifiedMatching MONDO:0005974 strongyloidiasis skos:exactMatch mesh:D013322 semapv:UnspecifiedMatching MONDO:0005975 suppurative otitis media skos:exactMatch DOID:11506 suppurative otitis media semapv:UnspecifiedMatching MONDO:0005975 suppurative otitis media skos:exactMatch SCTID:39288006 semapv:UnspecifiedMatching MONDO:0005975 suppurative otitis media skos:exactMatch UMLS:C0029888 semapv:UnspecifiedMatching MONDO:0005975 suppurative otitis media skos:exactMatch mesh:D010035 semapv:UnspecifiedMatching MONDO:0005976 syphilis skos:exactMatch DOID:4166 syphilis semapv:UnspecifiedMatching MONDO:0005976 syphilis skos:exactMatch NCIT:C35055 Syphilis semapv:UnspecifiedMatching MONDO:0005976 syphilis skos:exactMatch SCTID:76272004 semapv:UnspecifiedMatching MONDO:0005976 syphilis skos:exactMatch mesh:D013587 semapv:UnspecifiedMatching MONDO:0005977 tabes dorsalis skos:exactMatch DOID:10027 tabes dorsalis semapv:UnspecifiedMatching MONDO:0005977 tabes dorsalis skos:exactMatch ICD10CM:A52.11 Tabes dorsalis semapv:UnspecifiedMatching MONDO:0005977 tabes dorsalis skos:exactMatch NCIT:C35057 Tabes Dorsalis semapv:UnspecifiedMatching MONDO:0005977 tabes dorsalis skos:exactMatch SCTID:316841006 semapv:UnspecifiedMatching MONDO:0005977 tabes dorsalis skos:exactMatch UMLS:C0039223 semapv:UnspecifiedMatching MONDO:0005977 tabes dorsalis skos:exactMatch mesh:D013606 semapv:UnspecifiedMatching MONDO:0005978 theileriasis skos:exactMatch DOID:3733 theileriasis semapv:UnspecifiedMatching MONDO:0005978 theileriasis skos:exactMatch SCTID:68771000 semapv:UnspecifiedMatching MONDO:0005978 theileriasis skos:exactMatch UMLS:C0039753 semapv:UnspecifiedMatching MONDO:0005978 theileriasis skos:exactMatch mesh:D013801 semapv:UnspecifiedMatching MONDO:0005979 thoracic outlet syndrome skos:exactMatch DOID:3103 thoracic outlet syndrome semapv:UnspecifiedMatching MONDO:0005979 thoracic outlet syndrome skos:exactMatch NCIT:C85188 Thoracic Outlet Syndrome semapv:UnspecifiedMatching MONDO:0005979 thoracic outlet syndrome skos:exactMatch Orphanet:97330 Thoracic outlet syndrome semapv:UnspecifiedMatching MONDO:0005979 thoracic outlet syndrome skos:exactMatch SCTID:128210009 semapv:UnspecifiedMatching MONDO:0005979 thoracic outlet syndrome skos:exactMatch UMLS:C0039984 semapv:UnspecifiedMatching MONDO:0005979 thoracic outlet syndrome skos:exactMatch mesh:D013901 semapv:UnspecifiedMatching MONDO:0005980 tick infestation skos:exactMatch DOID:4109 tick infestation semapv:UnspecifiedMatching MONDO:0005980 tick infestation skos:exactMatch UMLS:C0040196 semapv:UnspecifiedMatching MONDO:0005980 tick infestation skos:exactMatch mesh:D013984 semapv:UnspecifiedMatching MONDO:0005981 tick paralysis skos:exactMatch DOID:11285 tick paralysis semapv:UnspecifiedMatching MONDO:0005981 tick paralysis skos:exactMatch SCTID:74225001 semapv:UnspecifiedMatching MONDO:0005981 tick paralysis skos:exactMatch UMLS:C0040197 semapv:UnspecifiedMatching MONDO:0005981 tick paralysis skos:exactMatch mesh:D013985 semapv:UnspecifiedMatching MONDO:0005982 tinea infection skos:exactMatch NCIT:C112181 Tinea Infection semapv:UnspecifiedMatching MONDO:0005982 tinea infection skos:exactMatch UMLS:C0040247 semapv:UnspecifiedMatching MONDO:0005983 tinea favosa skos:exactMatch DOID:4336 tinea favosa semapv:UnspecifiedMatching MONDO:0005983 tinea favosa skos:exactMatch NCIT:C35072 Favus semapv:UnspecifiedMatching MONDO:0005983 tinea favosa skos:exactMatch SCTID:85375000 semapv:UnspecifiedMatching MONDO:0005983 tinea favosa skos:exactMatch UMLS:C0040254 semapv:UnspecifiedMatching MONDO:0005983 tinea favosa skos:exactMatch mesh:D014007 semapv:UnspecifiedMatching MONDO:0005984 tinea pedis skos:exactMatch DOID:12403 tinea pedis semapv:UnspecifiedMatching MONDO:0005984 tinea pedis skos:exactMatch ICD10CM:B35.3 Tinea pedis semapv:UnspecifiedMatching MONDO:0005984 tinea pedis skos:exactMatch SCTID:6020002 semapv:UnspecifiedMatching MONDO:0005984 tinea pedis skos:exactMatch UMLS:C0040259 semapv:UnspecifiedMatching MONDO:0005984 tinea pedis skos:exactMatch mesh:D014008 semapv:UnspecifiedMatching MONDO:0005985 Togaviridae infectious disease skos:exactMatch UMLS:C0040361 semapv:UnspecifiedMatching MONDO:0005985 Togaviridae infectious disease skos:exactMatch mesh:D014036 semapv:UnspecifiedMatching MONDO:0005986 torovirus infectious disease skos:exactMatch UMLS:C0206607 semapv:UnspecifiedMatching MONDO:0005986 torovirus infectious disease skos:exactMatch mesh:D018176 semapv:UnspecifiedMatching MONDO:0005987 toxascariasis skos:exactMatch DOID:3107 toxascariasis semapv:UnspecifiedMatching MONDO:0005987 toxascariasis skos:exactMatch UMLS:C0040522 semapv:UnspecifiedMatching MONDO:0005987 toxascariasis skos:exactMatch mesh:D017227 semapv:UnspecifiedMatching MONDO:0005988 toxocariasis skos:exactMatch DOID:9790 toxocariasis semapv:UnspecifiedMatching MONDO:0005988 toxocariasis skos:exactMatch NCIT:C34758 Visceral Larva Migrans semapv:UnspecifiedMatching MONDO:0005988 toxocariasis skos:exactMatch NCIT:C85194 Toxocariasis semapv:UnspecifiedMatching MONDO:0005988 toxocariasis skos:exactMatch Orphanet:3343 Toxocariasis semapv:UnspecifiedMatching MONDO:0005988 toxocariasis skos:exactMatch SCTID:406619001 semapv:UnspecifiedMatching MONDO:0005988 toxocariasis skos:exactMatch UMLS:C0040553 semapv:UnspecifiedMatching MONDO:0005988 toxocariasis skos:exactMatch mesh:D014120 semapv:UnspecifiedMatching MONDO:0005989 toxoplasmosis skos:exactMatch DOID:9965 toxoplasmosis semapv:UnspecifiedMatching MONDO:0005989 toxoplasmosis skos:exactMatch ICD10CM:B58 Toxoplasmosis semapv:UnspecifiedMatching MONDO:0005989 toxoplasmosis skos:exactMatch NCIT:C3418 Toxoplasmosis semapv:UnspecifiedMatching MONDO:0005989 toxoplasmosis skos:exactMatch SCTID:187192000 semapv:UnspecifiedMatching MONDO:0005989 toxoplasmosis skos:exactMatch UMLS:C0040558 semapv:UnspecifiedMatching MONDO:0005989 toxoplasmosis skos:exactMatch mesh:D014123 semapv:UnspecifiedMatching MONDO:0005990 tracheitis skos:exactMatch DOID:9392 tracheitis semapv:UnspecifiedMatching MONDO:0005990 tracheitis skos:exactMatch ICD10CM:J04.1 Acute tracheitis semapv:UnspecifiedMatching MONDO:0005990 tracheitis skos:exactMatch NCIT:C78643 Tracheitis semapv:UnspecifiedMatching MONDO:0005990 tracheitis skos:exactMatch SCTID:62994001 semapv:UnspecifiedMatching MONDO:0005990 tracheitis skos:exactMatch UMLS:C0040584 semapv:UnspecifiedMatching MONDO:0005990 tracheitis skos:exactMatch mesh:D014136 semapv:UnspecifiedMatching MONDO:0005991 trench fever skos:exactMatch DOID:11101 trench fever semapv:UnspecifiedMatching MONDO:0005991 trench fever skos:exactMatch ICD10CM:A79.0 Trench fever semapv:UnspecifiedMatching MONDO:0005991 trench fever skos:exactMatch Orphanet:64694 Trench fever semapv:UnspecifiedMatching MONDO:0005991 trench fever skos:exactMatch SCTID:82214002 semapv:UnspecifiedMatching MONDO:0005991 trench fever skos:exactMatch UMLS:C0040830 semapv:UnspecifiedMatching MONDO:0005991 trench fever skos:exactMatch mesh:D014205 semapv:UnspecifiedMatching MONDO:0005993 Trichomonas vaginitis urogenital infection skos:exactMatch DOID:0050269 Trichomonas vaginalis trichomoniasis semapv:UnspecifiedMatching MONDO:0005993 Trichomonas vaginitis urogenital infection skos:exactMatch ICD10CM:A59.0 Urogenital trichomoniasis semapv:UnspecifiedMatching MONDO:0005993 Trichomonas vaginitis urogenital infection skos:exactMatch NCIT:C35083 Trichomonas Vaginitis semapv:UnspecifiedMatching MONDO:0005993 Trichomonas vaginitis urogenital infection skos:exactMatch SCTID:35089004 semapv:UnspecifiedMatching MONDO:0005993 Trichomonas vaginitis urogenital infection skos:exactMatch mesh:D014247 semapv:UnspecifiedMatching MONDO:0005994 trichostrongyloidiasis skos:exactMatch DOID:1255 trichostrongyloidiasis semapv:UnspecifiedMatching MONDO:0005994 trichostrongyloidiasis skos:exactMatch UMLS:C0040947 semapv:UnspecifiedMatching MONDO:0005994 trichostrongyloidiasis skos:exactMatch mesh:D014252 semapv:UnspecifiedMatching MONDO:0005995 trichostrongylosis skos:exactMatch DOID:1254 trichostrongylosis semapv:UnspecifiedMatching MONDO:0005995 trichostrongylosis skos:exactMatch ICD10CM:B81.2 Trichostrongyliasis semapv:UnspecifiedMatching MONDO:0005995 trichostrongylosis skos:exactMatch SCTID:33710003 semapv:UnspecifiedMatching MONDO:0005995 trichostrongylosis skos:exactMatch UMLS:C0040948 semapv:UnspecifiedMatching MONDO:0005995 trichostrongylosis skos:exactMatch mesh:D014253 semapv:UnspecifiedMatching MONDO:0005996 trichuriasis skos:exactMatch DOID:1252 trichuriasis semapv:UnspecifiedMatching MONDO:0005996 trichuriasis skos:exactMatch ICD10CM:B79 Trichuriasis semapv:UnspecifiedMatching MONDO:0005996 trichuriasis skos:exactMatch NCIT:C128399 Trichuriasis semapv:UnspecifiedMatching MONDO:0005996 trichuriasis skos:exactMatch SCTID:3752003 semapv:UnspecifiedMatching MONDO:0005996 trichuriasis skos:exactMatch UMLS:C5551334 semapv:UnspecifiedMatching MONDO:0005996 trichuriasis skos:exactMatch mesh:D014257 semapv:UnspecifiedMatching MONDO:0005997 tricuspid valve stenosis skos:exactMatch DOID:4078 tricuspid valve stenosis semapv:UnspecifiedMatching MONDO:0005997 tricuspid valve stenosis skos:exactMatch NCIT:C50783 Tricuspid Valve Stenosis semapv:UnspecifiedMatching MONDO:0005997 tricuspid valve stenosis skos:exactMatch SCTID:49915006 semapv:UnspecifiedMatching MONDO:0005997 tricuspid valve stenosis skos:exactMatch UMLS:C0040963 semapv:UnspecifiedMatching MONDO:0005997 tricuspid valve stenosis skos:exactMatch mesh:D014264 semapv:UnspecifiedMatching MONDO:0005998 trombiculiasis skos:exactMatch DOID:8399 trombiculiasis semapv:UnspecifiedMatching MONDO:0005998 trombiculiasis skos:exactMatch UMLS:C0041170 semapv:UnspecifiedMatching MONDO:0005998 trombiculiasis skos:exactMatch mesh:D014323 semapv:UnspecifiedMatching MONDO:0005999 tuberculous empyema skos:exactMatch DOID:14305 tuberculous empyema semapv:UnspecifiedMatching MONDO:0005999 tuberculous empyema skos:exactMatch NCIT:C34575 Tuberculous Empyema semapv:UnspecifiedMatching MONDO:0005999 tuberculous empyema skos:exactMatch SCTID:14527007 semapv:UnspecifiedMatching MONDO:0005999 tuberculous empyema skos:exactMatch UMLS:C0014014 semapv:UnspecifiedMatching MONDO:0005999 tuberculous empyema skos:exactMatch mesh:D004654 semapv:UnspecifiedMatching MONDO:0006000 tuberculous peritonitis skos:exactMatch DOID:9801 tuberculous peritonitis semapv:UnspecifiedMatching MONDO:0006000 tuberculous peritonitis skos:exactMatch ICD10CM:A18.31 Tuberculous peritonitis semapv:UnspecifiedMatching MONDO:0006000 tuberculous peritonitis skos:exactMatch SCTID:44572005 semapv:UnspecifiedMatching MONDO:0006000 tuberculous peritonitis skos:exactMatch UMLS:C0041325 semapv:UnspecifiedMatching MONDO:0006000 tuberculous peritonitis skos:exactMatch mesh:D014395 semapv:UnspecifiedMatching MONDO:0006001 urinary schistosomiasis skos:exactMatch DOID:1394 urinary schistosomiasis semapv:UnspecifiedMatching MONDO:0006001 urinary schistosomiasis skos:exactMatch NCIT:C39294 Schistosoma Hematobium Infection semapv:UnspecifiedMatching MONDO:0006001 urinary schistosomiasis skos:exactMatch SCTID:236706006 semapv:UnspecifiedMatching MONDO:0006001 urinary schistosomiasis skos:exactMatch UMLS:C1704430 semapv:UnspecifiedMatching MONDO:0006001 urinary schistosomiasis skos:exactMatch mesh:D012553 semapv:UnspecifiedMatching MONDO:0006002 urogenital tuberculosis skos:exactMatch DOID:2149 urogenital tuberculosis semapv:UnspecifiedMatching MONDO:0006002 urogenital tuberculosis skos:exactMatch SCTID:4445009 semapv:UnspecifiedMatching MONDO:0006002 urogenital tuberculosis skos:exactMatch UMLS:C0041333 semapv:UnspecifiedMatching MONDO:0006002 urogenital tuberculosis skos:exactMatch mesh:D014401 semapv:UnspecifiedMatching MONDO:0006003 uterine corpus cancer skos:exactMatch DOID:9460 uterine corpus cancer semapv:UnspecifiedMatching MONDO:0006003 uterine corpus cancer skos:exactMatch NCIT:C61574 Uterine Corpus Cancer semapv:UnspecifiedMatching MONDO:0006003 uterine corpus cancer skos:exactMatch SCTID:371972005 semapv:UnspecifiedMatching MONDO:0006004 vasomotor rhinitis skos:exactMatch DOID:4730 vasomotor rhinitis semapv:UnspecifiedMatching MONDO:0006004 vasomotor rhinitis skos:exactMatch ICD10CM:J30.0 Vasomotor rhinitis semapv:UnspecifiedMatching MONDO:0006004 vasomotor rhinitis skos:exactMatch NCIT:C34988 Vasomotor Rhinitis semapv:UnspecifiedMatching MONDO:0006004 vasomotor rhinitis skos:exactMatch SCTID:8229003 semapv:UnspecifiedMatching MONDO:0006004 vasomotor rhinitis skos:exactMatch UMLS:C0035460 semapv:UnspecifiedMatching MONDO:0006004 vasomotor rhinitis skos:exactMatch mesh:D012223 semapv:UnspecifiedMatching MONDO:0006005 Venezuelan equine encephalitis skos:exactMatch DOID:9584 Venezuelan equine encephalitis semapv:UnspecifiedMatching MONDO:0006005 Venezuelan equine encephalitis skos:exactMatch ICD10CM:A92.2 Venezuelan equine fever semapv:UnspecifiedMatching MONDO:0006005 Venezuelan equine encephalitis skos:exactMatch NCIT:C35121 Venezuelan Equine Fever semapv:UnspecifiedMatching MONDO:0006005 Venezuelan equine encephalitis skos:exactMatch SCTID:417067005 semapv:UnspecifiedMatching MONDO:0006005 Venezuelan equine encephalitis skos:exactMatch UMLS:C0014078 semapv:UnspecifiedMatching MONDO:0006005 Venezuelan equine encephalitis skos:exactMatch mesh:D004685 semapv:UnspecifiedMatching MONDO:0006006 verrucous carcinoma skos:exactMatch DOID:3737 verrucous carcinoma semapv:UnspecifiedMatching MONDO:0006006 verrucous carcinoma skos:exactMatch NCIT:C3781 Verrucous Carcinoma semapv:UnspecifiedMatching MONDO:0006006 verrucous carcinoma skos:exactMatch SCTID:403904009 semapv:UnspecifiedMatching MONDO:0006006 verrucous carcinoma skos:exactMatch UMLS:C0206706 semapv:UnspecifiedMatching MONDO:0006006 verrucous carcinoma skos:exactMatch mesh:D018289 semapv:UnspecifiedMatching MONDO:0006007 vesicoureteral reflux skos:exactMatch DOID:9620 vesicoureteral reflux semapv:UnspecifiedMatching MONDO:0006007 vesicoureteral reflux skos:exactMatch SCTID:197811007 semapv:UnspecifiedMatching MONDO:0006007 vesicoureteral reflux skos:exactMatch UMLS:C0042580 semapv:UnspecifiedMatching MONDO:0006007 vesicoureteral reflux skos:exactMatch mesh:D014718 semapv:UnspecifiedMatching MONDO:0006008 vestibular neuronitis skos:exactMatch DOID:12683 vestibular neuronitis semapv:UnspecifiedMatching MONDO:0006008 vestibular neuronitis skos:exactMatch ICD10CM:H81.2 Vestibular neuronitis semapv:UnspecifiedMatching MONDO:0006008 vestibular neuronitis skos:exactMatch SCTID:186738001 semapv:UnspecifiedMatching MONDO:0006008 vestibular neuronitis skos:exactMatch UMLS:C0751908 semapv:UnspecifiedMatching MONDO:0006008 vestibular neuronitis skos:exactMatch mesh:D020338 semapv:UnspecifiedMatching MONDO:0006009 viral encephalitis skos:exactMatch DOID:646 viral encephalitis semapv:UnspecifiedMatching MONDO:0006009 viral encephalitis skos:exactMatch NCIT:C35302 Viral Encephalitis semapv:UnspecifiedMatching MONDO:0006009 viral encephalitis skos:exactMatch Orphanet:98252 Infectious encephalitis semapv:UnspecifiedMatching MONDO:0006009 viral encephalitis skos:exactMatch SCTID:34476008 semapv:UnspecifiedMatching MONDO:0006009 viral encephalitis skos:exactMatch UMLS:C0243010 semapv:UnspecifiedMatching MONDO:0006010 salmonid viral hemorrhagic septicemia skos:exactMatch UMLS:C1135869 semapv:UnspecifiedMatching MONDO:0006010 salmonid viral hemorrhagic septicemia skos:exactMatch mesh:D031941 semapv:UnspecifiedMatching MONDO:0006011 viral hepatitis skos:exactMatch DOID:1884 viral hepatitis semapv:UnspecifiedMatching MONDO:0006011 viral hepatitis skos:exactMatch ICD10CM:B15-B19 Viral hepatitis (B15-B19) semapv:UnspecifiedMatching MONDO:0006011 viral hepatitis skos:exactMatch NCIT:C35124 Viral Hepatitis semapv:UnspecifiedMatching MONDO:0006011 viral hepatitis skos:exactMatch SCTID:3738000 semapv:UnspecifiedMatching MONDO:0006011 viral hepatitis skos:exactMatch UMLS:C0042721 semapv:UnspecifiedMatching MONDO:0006011 viral hepatitis skos:exactMatch mesh:D006525 semapv:UnspecifiedMatching MONDO:0006012 viral pneumonia skos:exactMatch DOID:10533 viral pneumonia semapv:UnspecifiedMatching MONDO:0006012 viral pneumonia skos:exactMatch SCTID:75570004 semapv:UnspecifiedMatching MONDO:0006012 viral pneumonia skos:exactMatch UMLS:C0032310 semapv:UnspecifiedMatching MONDO:0006012 viral pneumonia skos:exactMatch mesh:D011024 semapv:UnspecifiedMatching MONDO:0006013 visna disease skos:exactMatch UMLS:C0080323 semapv:UnspecifiedMatching MONDO:0006013 visna disease skos:exactMatch mesh:D016182 semapv:UnspecifiedMatching MONDO:0006014 vulvovaginal candidiasis skos:exactMatch DOID:2272 vulvovaginal candidiasis semapv:UnspecifiedMatching MONDO:0006014 vulvovaginal candidiasis skos:exactMatch ICD10CM:B37.3 Candidiasis of vulva and vagina semapv:UnspecifiedMatching MONDO:0006014 vulvovaginal candidiasis skos:exactMatch NCIT:C2914 Vulvovaginal Candidiasis semapv:UnspecifiedMatching MONDO:0006014 vulvovaginal candidiasis skos:exactMatch SCTID:72605008 semapv:UnspecifiedMatching MONDO:0006014 vulvovaginal candidiasis skos:exactMatch UMLS:C0700345 semapv:UnspecifiedMatching MONDO:0006014 vulvovaginal candidiasis skos:exactMatch mesh:D002181 semapv:UnspecifiedMatching MONDO:0006015 Waterhouse-Friderichsen syndrome skos:exactMatch DOID:9931 Waterhouse-Friderichsen syndrome semapv:UnspecifiedMatching MONDO:0006015 Waterhouse-Friderichsen syndrome skos:exactMatch ICD10CM:A39.1 Waterhouse-Friderichsen syndrome semapv:UnspecifiedMatching MONDO:0006015 Waterhouse-Friderichsen syndrome skos:exactMatch NCIT:C85225 Waterhouse-Friderichsen Syndrome semapv:UnspecifiedMatching MONDO:0006015 Waterhouse-Friderichsen syndrome skos:exactMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:UnspecifiedMatching MONDO:0006015 Waterhouse-Friderichsen syndrome skos:exactMatch SCTID:36102002 semapv:UnspecifiedMatching MONDO:0006015 Waterhouse-Friderichsen syndrome skos:exactMatch UMLS:C1403891 semapv:UnspecifiedMatching MONDO:0006015 Waterhouse-Friderichsen syndrome skos:exactMatch mesh:D014884 semapv:UnspecifiedMatching MONDO:0006018 Wissler syndrome skos:exactMatch DOID:3047 Wissler-Fanconi syndrome semapv:UnspecifiedMatching MONDO:0006018 Wissler syndrome skos:exactMatch UMLS:C0043195 semapv:UnspecifiedMatching MONDO:0006018 Wissler syndrome skos:exactMatch mesh:D014924 semapv:UnspecifiedMatching MONDO:0006019 yaws skos:exactMatch DOID:10371 yaws semapv:UnspecifiedMatching MONDO:0006019 yaws skos:exactMatch ICD10CM:A66 Yaws semapv:UnspecifiedMatching MONDO:0006019 yaws skos:exactMatch NCIT:C41353 Yaws semapv:UnspecifiedMatching MONDO:0006019 yaws skos:exactMatch SCTID:70647001 semapv:UnspecifiedMatching MONDO:0006019 yaws skos:exactMatch UMLS:C0043388 semapv:UnspecifiedMatching MONDO:0006019 yaws skos:exactMatch mesh:D015001 semapv:UnspecifiedMatching MONDO:0006021 Prinzmetal angina skos:exactMatch DOID:0111151 Prinzmetal angina semapv:UnspecifiedMatching MONDO:0006021 Prinzmetal angina skos:exactMatch SCTID:87343002 semapv:UnspecifiedMatching MONDO:0006021 Prinzmetal angina skos:exactMatch UMLS:C0002963 semapv:UnspecifiedMatching MONDO:0006021 Prinzmetal angina skos:exactMatch mesh:D000788 semapv:UnspecifiedMatching MONDO:0006022 acidosis disorder skos:exactMatch SCTID:51387008 semapv:UnspecifiedMatching MONDO:0006025 autosomal recessive disease skos:exactMatch DOID:0050737 autosomal recessive disease semapv:UnspecifiedMatching MONDO:0006025 autosomal recessive disease skos:exactMatch SCTID:85995004 semapv:UnspecifiedMatching MONDO:0006025 autosomal recessive disease skos:exactMatch UMLS:C0265388 semapv:UnspecifiedMatching MONDO:0006026 urinary bladder disorder skos:exactMatch DOID:365 bladder disease semapv:UnspecifiedMatching MONDO:0006026 urinary bladder disorder skos:exactMatch NCIT:C2900 Bladder Disorder semapv:UnspecifiedMatching MONDO:0006026 urinary bladder disorder skos:exactMatch SCTID:42643001 semapv:UnspecifiedMatching MONDO:0006026 urinary bladder disorder skos:exactMatch UMLS:C0005686 semapv:UnspecifiedMatching MONDO:0006026 urinary bladder disorder skos:exactMatch mesh:D001745 semapv:UnspecifiedMatching MONDO:0006028 cecum adenocarcinoma skos:exactMatch DOID:3039 cecum adenocarcinoma semapv:UnspecifiedMatching MONDO:0006028 cecum adenocarcinoma skos:exactMatch NCIT:C5543 Cecum Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006028 cecum adenocarcinoma skos:exactMatch SCTID:413446001 semapv:UnspecifiedMatching MONDO:0006028 cecum adenocarcinoma skos:exactMatch UMLS:C1332866 semapv:UnspecifiedMatching MONDO:0006029 cecum carcinoma skos:exactMatch DOID:1519 cecum carcinoma semapv:UnspecifiedMatching MONDO:0006029 cecum carcinoma skos:exactMatch NCIT:C3491 Cecum Carcinoma semapv:UnspecifiedMatching MONDO:0006029 cecum carcinoma skos:exactMatch SCTID:255081007 semapv:UnspecifiedMatching MONDO:0006029 cecum carcinoma skos:exactMatch UMLS:C0149640 semapv:UnspecifiedMatching MONDO:0006030 chronic cystitis skos:exactMatch DOID:1680 chronic cystitis semapv:UnspecifiedMatching MONDO:0006030 chronic cystitis skos:exactMatch NCIT:C27008 Chronic Cystitis semapv:UnspecifiedMatching MONDO:0006030 chronic cystitis skos:exactMatch SCTID:33655002 semapv:UnspecifiedMatching MONDO:0006030 chronic cystitis skos:exactMatch UMLS:C0221763 semapv:UnspecifiedMatching MONDO:0006031 chronic rhinosinusitis skos:exactMatch NCIT:C35151 Chronic Sinusitis semapv:UnspecifiedMatching MONDO:0006031 chronic rhinosinusitis skos:exactMatch SCTID:40055000 semapv:UnspecifiedMatching MONDO:0006031 chronic rhinosinusitis skos:exactMatch UMLS:C0149516 semapv:UnspecifiedMatching MONDO:0006032 cystitis skos:exactMatch DOID:1679 cystitis semapv:UnspecifiedMatching MONDO:0006032 cystitis skos:exactMatch NCIT:C26738 Cystitis semapv:UnspecifiedMatching MONDO:0006032 cystitis skos:exactMatch SCTID:38822007 semapv:UnspecifiedMatching MONDO:0006032 cystitis skos:exactMatch UMLS:C0010692 semapv:UnspecifiedMatching MONDO:0006032 cystitis skos:exactMatch mesh:D003556 semapv:UnspecifiedMatching MONDO:0006033 diffuse intrinsic pontine glioma skos:exactMatch NCIT:C94764 Diffuse Intrinsic Pontine Glioma semapv:UnspecifiedMatching MONDO:0006033 diffuse intrinsic pontine glioma skos:exactMatch Orphanet:497188 Diffuse intrinsic pontine glioma semapv:UnspecifiedMatching MONDO:0006033 diffuse intrinsic pontine glioma skos:exactMatch UMLS:C2986658 semapv:UnspecifiedMatching MONDO:0006033 diffuse intrinsic pontine glioma skos:exactMatch mesh:D000080443 semapv:UnspecifiedMatching MONDO:0006034 gastric adenosquamous carcinoma skos:exactMatch DOID:5635 gastric adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0006034 gastric adenosquamous carcinoma skos:exactMatch NCIT:C5474 Gastric Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0006034 gastric adenosquamous carcinoma skos:exactMatch UMLS:C1333761 semapv:UnspecifiedMatching MONDO:0006035 gastric tubular adenocarcinoma skos:exactMatch DOID:6595 gastric tubular adenocarcinoma semapv:UnspecifiedMatching MONDO:0006035 gastric tubular adenocarcinoma skos:exactMatch NCIT:C5473 Gastric Tubular Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006035 gastric tubular adenocarcinoma skos:exactMatch UMLS:C1333791 semapv:UnspecifiedMatching MONDO:0006036 granulosa cell tumor skos:exactMatch DOID:2999 granulosa cell tumor semapv:UnspecifiedMatching MONDO:0006036 granulosa cell tumor skos:exactMatch NCIT:C3070 Granulosa Cell Tumor semapv:UnspecifiedMatching MONDO:0006036 granulosa cell tumor skos:exactMatch UMLS:C0018206 semapv:UnspecifiedMatching MONDO:0006036 granulosa cell tumor skos:exactMatch mesh:D006106 semapv:UnspecifiedMatching MONDO:0006037 hydrolethalus syndrome skos:exactMatch DOID:0050779 hydrolethalus syndrome semapv:UnspecifiedMatching MONDO:0006037 hydrolethalus syndrome skos:exactMatch OMIMPS:236680 semapv:UnspecifiedMatching MONDO:0006037 hydrolethalus syndrome skos:exactMatch Orphanet:2189 Hydrolethalus semapv:UnspecifiedMatching MONDO:0006037 hydrolethalus syndrome skos:exactMatch SCTID:721232000 semapv:UnspecifiedMatching MONDO:0006037 hydrolethalus syndrome skos:exactMatch UMLS:C2931104 semapv:UnspecifiedMatching MONDO:0006037 hydrolethalus syndrome skos:exactMatch mesh:C536079 semapv:UnspecifiedMatching MONDO:0006038 indeterminate colitis skos:exactMatch ICD10CM:K52.3 Indeterminate colitis semapv:UnspecifiedMatching MONDO:0006038 indeterminate colitis skos:exactMatch NCIT:C27110 Colitis of Indeterminate Type semapv:UnspecifiedMatching MONDO:0006038 indeterminate colitis skos:exactMatch SCTID:235746007 semapv:UnspecifiedMatching MONDO:0006038 indeterminate colitis skos:exactMatch UMLS:C0341332 semapv:UnspecifiedMatching MONDO:0006039 infectious colitis skos:exactMatch NCIT:C78359 Infectious Colitis semapv:UnspecifiedMatching MONDO:0006039 infectious colitis skos:exactMatch SCTID:39341005 semapv:UnspecifiedMatching MONDO:0006039 infectious colitis skos:exactMatch UMLS:C0277524 semapv:UnspecifiedMatching MONDO:0006040 lactic acidosis skos:exactMatch SCTID:91273001 semapv:UnspecifiedMatching MONDO:0006040 lactic acidosis skos:exactMatch UMLS:C0001125 semapv:UnspecifiedMatching MONDO:0006040 lactic acidosis skos:exactMatch mesh:D000140 semapv:UnspecifiedMatching MONDO:0006041 lung carcinoid tumor skos:exactMatch NCIT:C4038 Lung Carcinoid Tumor semapv:UnspecifiedMatching MONDO:0006041 lung carcinoid tumor skos:exactMatch SCTID:254627002 semapv:UnspecifiedMatching MONDO:0006041 lung carcinoid tumor skos:exactMatch UMLS:C0280089 semapv:UnspecifiedMatching MONDO:0006042 meningeal tuberculosis skos:exactMatch NCIT:C84888 Meningeal Tuberculosis semapv:UnspecifiedMatching MONDO:0006042 meningeal tuberculosis skos:exactMatch Orphanet:499004 OBSOLETE: Tuberculous meningitis semapv:UnspecifiedMatching MONDO:0006042 meningeal tuberculosis skos:exactMatch SCTID:58437007 semapv:UnspecifiedMatching MONDO:0006042 meningeal tuberculosis skos:exactMatch UMLS:C0041318 semapv:UnspecifiedMatching MONDO:0006042 meningeal tuberculosis skos:exactMatch mesh:D014390 semapv:UnspecifiedMatching MONDO:0006043 metaplastic breast carcinoma skos:exactMatch DOID:4680 breast metaplastic carcinoma semapv:UnspecifiedMatching MONDO:0006043 metaplastic breast carcinoma skos:exactMatch NCIT:C5164 Breast Metaplastic Carcinoma semapv:UnspecifiedMatching MONDO:0006043 metaplastic breast carcinoma skos:exactMatch Orphanet:213531 Metaplastic carcinoma of the breast semapv:UnspecifiedMatching MONDO:0006043 metaplastic breast carcinoma skos:exactMatch SCTID:763479005 semapv:UnspecifiedMatching MONDO:0006043 metaplastic breast carcinoma skos:exactMatch UMLS:C1334708 semapv:UnspecifiedMatching MONDO:0006044 nephrosclerosis skos:exactMatch DOID:11664 nephrosclerosis semapv:UnspecifiedMatching MONDO:0006044 nephrosclerosis skos:exactMatch SCTID:32916005 semapv:UnspecifiedMatching MONDO:0006044 nephrosclerosis skos:exactMatch UMLS:C0027719 semapv:UnspecifiedMatching MONDO:0006044 nephrosclerosis skos:exactMatch mesh:D009400 semapv:UnspecifiedMatching MONDO:0006045 ovarian clear cell adenocarcinoma skos:exactMatch DOID:5304 ovarian clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0006045 ovarian clear cell adenocarcinoma skos:exactMatch NCIT:C40078 Ovarian Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006045 ovarian clear cell adenocarcinoma skos:exactMatch Orphanet:398971 Clear cell adenocarcinoma of the ovary semapv:UnspecifiedMatching MONDO:0006045 ovarian clear cell adenocarcinoma skos:exactMatch SCTID:763131005 semapv:UnspecifiedMatching MONDO:0006045 ovarian clear cell adenocarcinoma skos:exactMatch UMLS:C1518693 semapv:UnspecifiedMatching MONDO:0006046 ovarian serous cystadenocarcinoma skos:exactMatch DOID:5746 ovarian serous cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0006046 ovarian serous cystadenocarcinoma skos:exactMatch NCIT:C7978 Ovarian Serous Cystadenocarcinoma semapv:UnspecifiedMatching MONDO:0006046 ovarian serous cystadenocarcinoma skos:exactMatch UMLS:C0279663 semapv:UnspecifiedMatching MONDO:0006047 pancreatic adenocarcinoma skos:exactMatch DOID:4074 pancreatic adenocarcinoma semapv:UnspecifiedMatching MONDO:0006047 pancreatic adenocarcinoma skos:exactMatch NCIT:C8294 Pancreatic Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006047 pancreatic adenocarcinoma skos:exactMatch SCTID:700423003 semapv:UnspecifiedMatching MONDO:0006047 pancreatic adenocarcinoma skos:exactMatch UMLS:C0281361 semapv:UnspecifiedMatching MONDO:0006049 papillary lung adenocarcinoma skos:exactMatch DOID:5588 lung papillary adenocarcinoma semapv:UnspecifiedMatching MONDO:0006049 papillary lung adenocarcinoma skos:exactMatch NCIT:C5650 Lung Papillary Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006049 papillary lung adenocarcinoma skos:exactMatch SCTID:707411007 semapv:UnspecifiedMatching MONDO:0006049 papillary lung adenocarcinoma skos:exactMatch UMLS:C1335325 semapv:UnspecifiedMatching MONDO:0006050 pleomorphic breast carcinoma skos:exactMatch NCIT:C5161 Breast Pleomorphic Carcinoma semapv:UnspecifiedMatching MONDO:0006050 pleomorphic breast carcinoma skos:exactMatch UMLS:C1514169 semapv:UnspecifiedMatching MONDO:0006052 pulmonary tuberculosis skos:exactMatch DOID:2957 pulmonary tuberculosis semapv:UnspecifiedMatching MONDO:0006052 pulmonary tuberculosis skos:exactMatch NCIT:C26899 Pulmonary Tuberculosis semapv:UnspecifiedMatching MONDO:0006052 pulmonary tuberculosis skos:exactMatch SCTID:154283005 semapv:UnspecifiedMatching MONDO:0006052 pulmonary tuberculosis skos:exactMatch UMLS:C0041327 semapv:UnspecifiedMatching MONDO:0006052 pulmonary tuberculosis skos:exactMatch mesh:D014397 semapv:UnspecifiedMatching MONDO:0006053 renal leiomyoma skos:exactMatch NCIT:C159209 Kidney Leiomyoma semapv:UnspecifiedMatching MONDO:0006054 reproductive system neoplasm skos:exactMatch NCIT:C3674 Reproductive System Neoplasm semapv:UnspecifiedMatching MONDO:0006054 reproductive system neoplasm skos:exactMatch UMLS:C0178830 semapv:UnspecifiedMatching MONDO:0006055 sex cord-stromal tumor skos:exactMatch DOID:192 sex cord-gonadal stromal tumor semapv:UnspecifiedMatching MONDO:0006055 sex cord-stromal tumor skos:exactMatch NCIT:C3794 Sex Cord-Stromal Tumor semapv:UnspecifiedMatching MONDO:0006055 sex cord-stromal tumor skos:exactMatch UMLS:C0206724 semapv:UnspecifiedMatching MONDO:0006056 squamous cell breast carcinoma skos:exactMatch DOID:5514 breast squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006056 squamous cell breast carcinoma skos:exactMatch NCIT:C5177 Breast Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006056 squamous cell breast carcinoma skos:exactMatch UMLS:C1336079 semapv:UnspecifiedMatching MONDO:0006058 Wilms tumor skos:exactMatch NCIT:C3267 Wilms Tumor semapv:UnspecifiedMatching MONDO:0006058 Wilms tumor skos:exactMatch UMLS:C0027708 semapv:UnspecifiedMatching MONDO:0006058 Wilms tumor skos:exactMatch mesh:D009396 semapv:UnspecifiedMatching MONDO:0006059 nasal cavity squamous cell carcinoma skos:exactMatch DOID:5515 nasal cavity squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006059 nasal cavity squamous cell carcinoma skos:exactMatch NCIT:C8192 Nasal Cavity Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006059 nasal cavity squamous cell carcinoma skos:exactMatch UMLS:C0280333 semapv:UnspecifiedMatching MONDO:0006060 nasopharyngeal squamous cell carcinoma skos:exactMatch NCIT:C167265 Nasopharyngeal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006065 lactose intolerance adult type skos:exactMatch OMIM:223100 lactose intolerance, adult iia semapv:UnspecifiedMatching MONDO:0006066 acinar prostate adenocarcinoma, foamy gland variant skos:exactMatch NCIT:C39882 Prostate Acinar Foamy Gland Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006066 acinar prostate adenocarcinoma, foamy gland variant skos:exactMatch UMLS:C1515863 semapv:UnspecifiedMatching MONDO:0006067 acinar prostate mucinous adenocarcinoma skos:exactMatch DOID:3703 prostate colloid adenocarcinoma semapv:UnspecifiedMatching MONDO:0006067 acinar prostate mucinous adenocarcinoma skos:exactMatch NCIT:C5537 Prostate Acinar Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006067 acinar prostate mucinous adenocarcinoma skos:exactMatch UMLS:C1335513 semapv:UnspecifiedMatching MONDO:0006068 ACTH-producing pituitary gland adenoma skos:exactMatch NCIT:C7462 Corticotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0006069 ACTH-producing pituitary gland carcinoma skos:exactMatch DOID:6276 malignant ACTH producing neoplasm of pituitary gland semapv:UnspecifiedMatching MONDO:0006069 ACTH-producing pituitary gland carcinoma skos:exactMatch NCIT:C5964 Metastatic Corticotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0006069 ACTH-producing pituitary gland carcinoma skos:exactMatch UMLS:C1334556 semapv:UnspecifiedMatching MONDO:0006071 adenofibroma skos:exactMatch DOID:2683 adenofibroma semapv:UnspecifiedMatching MONDO:0006071 adenofibroma skos:exactMatch NCIT:C8984 Female Reproductive System Adenofibroma semapv:UnspecifiedMatching MONDO:0006071 adenofibroma skos:exactMatch UMLS:C0001422 semapv:UnspecifiedMatching MONDO:0006071 adenofibroma skos:exactMatch mesh:D000232 semapv:UnspecifiedMatching MONDO:0006073 adenomatoid odontogenic tumor skos:exactMatch NCIT:C4310 Adenomatoid Odontogenic Tumor semapv:UnspecifiedMatching MONDO:0006073 adenomatoid odontogenic tumor skos:exactMatch mesh:C538229 semapv:UnspecifiedMatching MONDO:0006074 adenosquamous carcinoma skos:exactMatch DOID:4830 adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0006074 adenosquamous carcinoma skos:exactMatch NCIT:C3727 Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0006074 adenosquamous carcinoma skos:exactMatch SCTID:403902008 semapv:UnspecifiedMatching MONDO:0006074 adenosquamous carcinoma skos:exactMatch UMLS:C0206623 semapv:UnspecifiedMatching MONDO:0006074 adenosquamous carcinoma skos:exactMatch mesh:D018196 semapv:UnspecifiedMatching MONDO:0006075 adrenal gland myelolipoma skos:exactMatch NCIT:C3736 Adrenal Gland Myelolipoma semapv:UnspecifiedMatching MONDO:0006075 adrenal gland myelolipoma skos:exactMatch SCTID:719049003 semapv:UnspecifiedMatching MONDO:0006075 adrenal gland myelolipoma skos:exactMatch UMLS:C0206635 semapv:UnspecifiedMatching MONDO:0006075 adrenal gland myelolipoma skos:exactMatch mesh:D018209 semapv:UnspecifiedMatching MONDO:0006076 adrenal gland neuroblastoma skos:exactMatch DOID:5718 adrenal neuroblastoma semapv:UnspecifiedMatching MONDO:0006076 adrenal gland neuroblastoma skos:exactMatch NCIT:C4827 Adrenal Gland Neuroblastoma semapv:UnspecifiedMatching MONDO:0006076 adrenal gland neuroblastoma skos:exactMatch SCTID:281562007 semapv:UnspecifiedMatching MONDO:0006076 adrenal gland neuroblastoma skos:exactMatch UMLS:C0559460 semapv:UnspecifiedMatching MONDO:0006077 adrenal medullary hyperplasia skos:exactMatch NCIT:C35838 Adrenal Medullary Hyperplasia semapv:UnspecifiedMatching MONDO:0006078 AIDS-related primary central nervous system lymphoma skos:exactMatch NCIT:C8284 AIDS-Related Primary Central Nervous System Lymphoma semapv:UnspecifiedMatching MONDO:0006078 AIDS-related primary central nervous system lymphoma skos:exactMatch UMLS:C0281241 semapv:UnspecifiedMatching MONDO:0006079 ameloblastic carcinoma skos:exactMatch NCIT:C7492 Ameloblastic Carcinoma semapv:UnspecifiedMatching MONDO:0006079 ameloblastic carcinoma skos:exactMatch Orphanet:314422 Ameloblastic carcinoma semapv:UnspecifiedMatching MONDO:0006079 ameloblastic carcinoma skos:exactMatch UMLS:C1314678 semapv:UnspecifiedMatching MONDO:0006081 anal melanoma skos:exactMatch DOID:14145 malignant anus melanoma semapv:UnspecifiedMatching MONDO:0006081 anal melanoma skos:exactMatch NCIT:C4639 Anal Melanoma semapv:UnspecifiedMatching MONDO:0006081 anal melanoma skos:exactMatch SCTID:276821000 semapv:UnspecifiedMatching MONDO:0006081 anal melanoma skos:exactMatch UMLS:C0349538 semapv:UnspecifiedMatching MONDO:0006082 anal squamous cell carcinoma skos:exactMatch DOID:5525 anal squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006082 anal squamous cell carcinoma skos:exactMatch NCIT:C9161 Anal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006082 anal squamous cell carcinoma skos:exactMatch UMLS:C1412036 semapv:UnspecifiedMatching MONDO:0006085 angiolipoma skos:exactMatch DOID:3616 angiolipoma semapv:UnspecifiedMatching MONDO:0006085 angiolipoma skos:exactMatch NCIT:C3733 Angiolipoma semapv:UnspecifiedMatching MONDO:0006085 angiolipoma skos:exactMatch SCTID:404057003 semapv:UnspecifiedMatching MONDO:0006085 angiolipoma skos:exactMatch UMLS:C0206632 semapv:UnspecifiedMatching MONDO:0006085 angiolipoma skos:exactMatch mesh:D018206 semapv:UnspecifiedMatching MONDO:0006086 angiomyxoma skos:exactMatch NCIT:C3254 Angiomyxoma semapv:UnspecifiedMatching MONDO:0006086 angiomyxoma skos:exactMatch SCTID:404083008 semapv:UnspecifiedMatching MONDO:0006086 angiomyxoma skos:exactMatch UMLS:C5551004 semapv:UnspecifiedMatching MONDO:0006087 appendix adenocarcinoma skos:exactMatch DOID:3608 appendix adenocarcinoma semapv:UnspecifiedMatching MONDO:0006087 appendix adenocarcinoma skos:exactMatch NCIT:C7718 Appendix Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006087 appendix adenocarcinoma skos:exactMatch SCTID:413445002 semapv:UnspecifiedMatching MONDO:0006087 appendix adenocarcinoma skos:exactMatch UMLS:C0238003 semapv:UnspecifiedMatching MONDO:0006088 appendix adenoma skos:exactMatch NCIT:C43550 Appendix Adenoma semapv:UnspecifiedMatching MONDO:0006088 appendix adenoma skos:exactMatch UMLS:C1706829 semapv:UnspecifiedMatching MONDO:0006090 appendix hyperplastic polyp skos:exactMatch NCIT:C96416 Appendix Hyperplastic Polyp semapv:UnspecifiedMatching MONDO:0006090 appendix hyperplastic polyp skos:exactMatch UMLS:C3272761 semapv:UnspecifiedMatching MONDO:0006091 appendix neuroendocrine tumor G1 skos:exactMatch DOID:0050911 appendix carcinoid tumor semapv:UnspecifiedMatching MONDO:0006091 appendix neuroendocrine tumor G1 skos:exactMatch NCIT:C4138 Appendix Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0006091 appendix neuroendocrine tumor G1 skos:exactMatch SCTID:253002004 semapv:UnspecifiedMatching MONDO:0006091 appendix neuroendocrine tumor G1 skos:exactMatch UMLS:C0334298 semapv:UnspecifiedMatching MONDO:0006092 appendix villous adenoma skos:exactMatch NCIT:C5512 Appendix Villous Adenoma semapv:UnspecifiedMatching MONDO:0006092 appendix villous adenoma skos:exactMatch UMLS:C1332329 semapv:UnspecifiedMatching MONDO:0006093 ascending colon neuroendocrine tumor G1 skos:exactMatch NCIT:C6427 Ascending Colon Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0006093 ascending colon neuroendocrine tumor G1 skos:exactMatch UMLS:C1332340 semapv:UnspecifiedMatching MONDO:0006094 Askin tumor skos:exactMatch DOID:0050608 Askin's tumor semapv:UnspecifiedMatching MONDO:0006094 Askin tumor skos:exactMatch NCIT:C7542 Askin Tumor semapv:UnspecifiedMatching MONDO:0006094 Askin tumor skos:exactMatch UMLS:C0877849 semapv:UnspecifiedMatching MONDO:0006094 Askin tumor skos:exactMatch mesh:C563168 semapv:UnspecifiedMatching MONDO:0006095 atypical carcinoid tumor skos:exactMatch NCIT:C72074 Atypical Carcinoid Tumor semapv:UnspecifiedMatching MONDO:0006095 atypical carcinoid tumor skos:exactMatch SCTID:445238008 semapv:UnspecifiedMatching MONDO:0006095 atypical carcinoid tumor skos:exactMatch UMLS:C1266032 semapv:UnspecifiedMatching MONDO:0006096 atypical endometrial hyperplasia skos:exactMatch SCTID:277158007 semapv:UnspecifiedMatching MONDO:0006096 atypical endometrial hyperplasia skos:exactMatch UMLS:C0349579 semapv:UnspecifiedMatching MONDO:0006097 atypical lipomatous tumor skos:exactMatch DOID:5690 well-differentiated liposarcoma semapv:UnspecifiedMatching MONDO:0006097 atypical lipomatous tumor skos:exactMatch NCIT:C6505 Atypical Lipomatous Tumor/Well Differentiated Liposarcoma semapv:UnspecifiedMatching MONDO:0006098 atypical lobular breast hyperplasia skos:exactMatch NCIT:C4730 Breast Atypical Lobular Hyperplasia semapv:UnspecifiedMatching MONDO:0006098 atypical lobular breast hyperplasia skos:exactMatch SCTID:450697004 semapv:UnspecifiedMatching MONDO:0006102 basaloid carcinoma skos:exactMatch NCIT:C4121 Basaloid Carcinoma semapv:UnspecifiedMatching MONDO:0006103 benign adrenal gland pheochromocytoma skos:exactMatch NCIT:C48305 Non-Metastatic Adrenal Gland Pheochromocytoma semapv:UnspecifiedMatching MONDO:0006104 benign carotid body paraganglioma skos:exactMatch NCIT:C79950 Non-Metastatic Carotid Body Paraganglioma semapv:UnspecifiedMatching MONDO:0006104 benign carotid body paraganglioma skos:exactMatch UMLS:C2698359 semapv:UnspecifiedMatching MONDO:0006105 benign conjunctival neoplasm skos:exactMatch NCIT:C3622 Benign Conjunctival Neoplasm semapv:UnspecifiedMatching MONDO:0006105 benign conjunctival neoplasm skos:exactMatch SCTID:92068002 semapv:UnspecifiedMatching MONDO:0006105 benign conjunctival neoplasm skos:exactMatch UMLS:C0154025 semapv:UnspecifiedMatching MONDO:0006106 benign smooth muscle neoplasm skos:exactMatch NCIT:C6510 Benign Smooth Muscle Neoplasm semapv:UnspecifiedMatching MONDO:0006106 benign smooth muscle neoplasm skos:exactMatch UMLS:C1332539 semapv:UnspecifiedMatching MONDO:0006107 benign thyroid gland neoplasm skos:exactMatch NCIT:C3628 Benign Thyroid Gland Neoplasm semapv:UnspecifiedMatching MONDO:0006107 benign thyroid gland neoplasm skos:exactMatch SCTID:92439006 semapv:UnspecifiedMatching MONDO:0006107 benign thyroid gland neoplasm skos:exactMatch UMLS:C0154038 semapv:UnspecifiedMatching MONDO:0006108 bile duct adenoma skos:exactMatch DOID:5381 bile duct adenoma semapv:UnspecifiedMatching MONDO:0006108 bile duct adenoma skos:exactMatch NCIT:C2942 Bile Duct Adenoma semapv:UnspecifiedMatching MONDO:0006108 bile duct adenoma skos:exactMatch SCTID:424091006 semapv:UnspecifiedMatching MONDO:0006108 bile duct adenoma skos:exactMatch UMLS:C0008309 semapv:UnspecifiedMatching MONDO:0006108 bile duct adenoma skos:exactMatch mesh:D002759 semapv:UnspecifiedMatching MONDO:0006109 malignant biphasic mesothelioma skos:exactMatch DOID:4486 malignant biphasic mesothelioma semapv:UnspecifiedMatching MONDO:0006109 malignant biphasic mesothelioma skos:exactMatch NCIT:C4282 Biphasic Mesothelioma semapv:UnspecifiedMatching MONDO:0006109 malignant biphasic mesothelioma skos:exactMatch UMLS:C0334515 semapv:UnspecifiedMatching MONDO:0006111 bladder flat intraepithelial lesion skos:exactMatch DOID:5429 bladder flat intraepithelial lesion semapv:UnspecifiedMatching MONDO:0006111 bladder flat intraepithelial lesion skos:exactMatch NCIT:C37266 Bladder Urothelial Carcinoma In Situ semapv:UnspecifiedMatching MONDO:0006111 bladder flat intraepithelial lesion skos:exactMatch UMLS:C1332559 semapv:UnspecifiedMatching MONDO:0006112 bladder inflammatory myofibroblastic tumor skos:exactMatch NCIT:C6177 Bladder Inflammatory Myofibroblastic Tumor semapv:UnspecifiedMatching MONDO:0006112 bladder inflammatory myofibroblastic tumor skos:exactMatch UMLS:C1336891 semapv:UnspecifiedMatching MONDO:0006115 blast phase chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch NCIT:C9110 Blast Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive semapv:UnspecifiedMatching MONDO:0006115 blast phase chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch SCTID:413656006 semapv:UnspecifiedMatching MONDO:0006115 blast phase chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch UMLS:C0005699 semapv:UnspecifiedMatching MONDO:0006115 blast phase chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch mesh:D001752 semapv:UnspecifiedMatching MONDO:0006116 breast carcinoma by gene expression profile skos:exactMatch NCIT:C53553 Breast Carcinoma by Gene Expression Profile semapv:UnspecifiedMatching MONDO:0006116 breast carcinoma by gene expression profile skos:exactMatch UMLS:C3642344 semapv:UnspecifiedMatching MONDO:0006117 breast diffuse large B-cell lymphoma skos:exactMatch NCIT:C40375 Breast Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006117 breast diffuse large B-cell lymphoma skos:exactMatch UMLS:C1511306 semapv:UnspecifiedMatching MONDO:0006118 breast fibrosis skos:exactMatch DOID:10353 fibrosclerosis of breast semapv:UnspecifiedMatching MONDO:0006118 breast fibrosis skos:exactMatch ICD10CM:N60.3 Fibrosclerosis of breast semapv:UnspecifiedMatching MONDO:0006118 breast fibrosis skos:exactMatch NCIT:C3660 Breast Fibrosis semapv:UnspecifiedMatching MONDO:0006118 breast fibrosis skos:exactMatch SCTID:29070004 semapv:UnspecifiedMatching MONDO:0006118 breast fibrosis skos:exactMatch UMLS:C0156318 semapv:UnspecifiedMatching MONDO:0006119 breast mucosa-associated lymphoid tissue lymphoma skos:exactMatch NCIT:C35688 Breast Mucosa-Associated Lymphoid Tissue Lymphoma semapv:UnspecifiedMatching MONDO:0006119 breast mucosa-associated lymphoid tissue lymphoma skos:exactMatch UMLS:C1332633 semapv:UnspecifiedMatching MONDO:0006120 C-cell hyperplasia skos:exactMatch NCIT:C46100 C-Cell Hyperplasia semapv:UnspecifiedMatching MONDO:0006120 C-cell hyperplasia skos:exactMatch UMLS:C0342190 semapv:UnspecifiedMatching MONDO:0006121 calcifying fibrous tumor skos:exactMatch NCIT:C6488 Calcifying Fibrous Tumor semapv:UnspecifiedMatching MONDO:0006121 calcifying fibrous tumor skos:exactMatch UMLS:C1332833 semapv:UnspecifiedMatching MONDO:0006122 calcifying nested epithelial stromal tumor of the liver skos:exactMatch NCIT:C96830 Calcifying Nested Stromal-Epithelial Tumor semapv:UnspecifiedMatching MONDO:0006122 calcifying nested epithelial stromal tumor of the liver skos:exactMatch UMLS:C3472610 semapv:UnspecifiedMatching MONDO:0006123 cardiac rhabdomyoma skos:exactMatch NCIT:C6739 Cardiac Rhabdomyoma semapv:UnspecifiedMatching MONDO:0006123 cardiac rhabdomyoma skos:exactMatch UMLS:C1332852 semapv:UnspecifiedMatching MONDO:0006126 cecum neuroendocrine tumor G1 skos:exactMatch NCIT:C5501 Cecum Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0006126 cecum neuroendocrine tumor G1 skos:exactMatch UMLS:C0854488 semapv:UnspecifiedMatching MONDO:0006128 central nervous system anaplastic large cell lymphoma skos:exactMatch NCIT:C5322 Central Nervous System Anaplastic Large Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006128 central nervous system anaplastic large cell lymphoma skos:exactMatch UMLS:C1335476 semapv:UnspecifiedMatching MONDO:0006130 central nervous system neoplasm skos:exactMatch NCIT:C9293 Central Nervous System Neoplasm semapv:UnspecifiedMatching MONDO:0006131 cerebellar liponeurocytoma skos:exactMatch DOID:6458 cerebellar liponeurocytoma semapv:UnspecifiedMatching MONDO:0006131 cerebellar liponeurocytoma skos:exactMatch NCIT:C6905 Cerebellar Liponeurocytoma semapv:UnspecifiedMatching MONDO:0006131 cerebellar liponeurocytoma skos:exactMatch Orphanet:251931 Cerebellar liponeurocytoma semapv:UnspecifiedMatching MONDO:0006131 cerebellar liponeurocytoma skos:exactMatch SCTID:716592003 semapv:UnspecifiedMatching MONDO:0006131 cerebellar liponeurocytoma skos:exactMatch UMLS:C1370507 semapv:UnspecifiedMatching MONDO:0006132 cervical adenoid basal carcinoma skos:exactMatch DOID:6428 cervical adenoid basal carcinoma semapv:UnspecifiedMatching MONDO:0006132 cervical adenoid basal carcinoma skos:exactMatch NCIT:C40213 Cervical Adenoid Basal Carcinoma semapv:UnspecifiedMatching MONDO:0006132 cervical adenoid basal carcinoma skos:exactMatch Orphanet:213828 Adenoid basal carcinoma of the cervix uteri semapv:UnspecifiedMatching MONDO:0006132 cervical adenoid basal carcinoma skos:exactMatch UMLS:C1516403 semapv:UnspecifiedMatching MONDO:0006133 cervical adenoid cystic carcinoma skos:exactMatch DOID:4867 cervical adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0006133 cervical adenoid cystic carcinoma skos:exactMatch NCIT:C6346 Cervical Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006133 cervical adenoid cystic carcinoma skos:exactMatch Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri semapv:UnspecifiedMatching MONDO:0006133 cervical adenoid cystic carcinoma skos:exactMatch UMLS:C1332911 semapv:UnspecifiedMatching MONDO:0006134 cervical adenosquamous carcinoma skos:exactMatch DOID:5636 cervical adenosquamous carcinoma semapv:UnspecifiedMatching MONDO:0006134 cervical adenosquamous carcinoma skos:exactMatch NCIT:C4519 Cervical Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0006134 cervical adenosquamous carcinoma skos:exactMatch SCTID:254888007 semapv:UnspecifiedMatching MONDO:0006134 cervical adenosquamous carcinoma skos:exactMatch UMLS:C0346202 semapv:UnspecifiedMatching MONDO:0006135 cervical clear cell adenocarcinoma skos:exactMatch DOID:5303 cervical clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0006135 cervical clear cell adenocarcinoma skos:exactMatch NCIT:C6344 Human Papillomavirus-Independent Cervical Adenocarcinoma, Clear Cell-Type semapv:UnspecifiedMatching MONDO:0006135 cervical clear cell adenocarcinoma skos:exactMatch UMLS:C1332912 semapv:UnspecifiedMatching MONDO:0006137 cervical intraepithelial neoplasia grade 2/3 skos:exactMatch NCIT:C94676 Cervical Intraepithelial Neoplasia Grade 2/3 semapv:UnspecifiedMatching MONDO:0006137 cervical intraepithelial neoplasia grade 2/3 skos:exactMatch UMLS:C2986622 semapv:UnspecifiedMatching MONDO:0006138 cervical large cell neuroendocrine carcinoma skos:exactMatch DOID:6659 cervical large cell neuroendocrine carcinoma semapv:UnspecifiedMatching MONDO:0006138 cervical large cell neuroendocrine carcinoma skos:exactMatch NCIT:C40214 Cervical Large Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006138 cervical large cell neuroendocrine carcinoma skos:exactMatch UMLS:C1516417 semapv:UnspecifiedMatching MONDO:0006139 cervical metaplasia skos:exactMatch UMLS:C0281796 semapv:UnspecifiedMatching MONDO:0006140 cervical mucinous adenocarcinoma, minimal deviation variant skos:exactMatch DOID:6627 cervical adenoma malignum semapv:UnspecifiedMatching MONDO:0006140 cervical mucinous adenocarcinoma, minimal deviation variant skos:exactMatch NCIT:C40206 Human Papillomavirus-Independent Cervical Adenocarcinoma, Gastric-Type semapv:UnspecifiedMatching MONDO:0006140 cervical mucinous adenocarcinoma, minimal deviation variant skos:exactMatch UMLS:C1516423 semapv:UnspecifiedMatching MONDO:0006141 cervical villoglandular adenocarcinoma skos:exactMatch DOID:8338 villoglandular variant cervical mucinous adenocarcinoma semapv:UnspecifiedMatching MONDO:0006141 cervical villoglandular adenocarcinoma skos:exactMatch NCIT:C40208 Cervical Villoglandular Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006141 cervical villoglandular adenocarcinoma skos:exactMatch UMLS:C4289808 semapv:UnspecifiedMatching MONDO:0006142 cervical small cell carcinoma skos:exactMatch DOID:6740 cervix small cell carcinoma semapv:UnspecifiedMatching MONDO:0006142 cervical small cell carcinoma skos:exactMatch NCIT:C7982 Cervical Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006142 cervical small cell carcinoma skos:exactMatch UMLS:C0279674 semapv:UnspecifiedMatching MONDO:0006143 cervical squamous cell carcinoma skos:exactMatch DOID:3744 cervical squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006143 cervical squamous cell carcinoma skos:exactMatch NCIT:C4028 Cervical Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006143 cervical squamous cell carcinoma skos:exactMatch Orphanet:213767 Squamous cell carcinoma of the cervix uteri semapv:UnspecifiedMatching MONDO:0006143 cervical squamous cell carcinoma skos:exactMatch SCTID:254886006 semapv:UnspecifiedMatching MONDO:0006143 cervical squamous cell carcinoma skos:exactMatch UMLS:C0279671 semapv:UnspecifiedMatching MONDO:0006144 cervical Wilms tumor skos:exactMatch DOID:5190 cervical Wilms' tumor semapv:UnspecifiedMatching MONDO:0006144 cervical Wilms tumor skos:exactMatch NCIT:C40236 Cervical Wilms Tumor semapv:UnspecifiedMatching MONDO:0006144 cervical Wilms tumor skos:exactMatch UMLS:C1516437 semapv:UnspecifiedMatching MONDO:0006145 chondroid chordoma skos:exactMatch DOID:4152 chondroid chordoma semapv:UnspecifiedMatching MONDO:0006145 chondroid chordoma skos:exactMatch NCIT:C6902 Chondroid Chordoma semapv:UnspecifiedMatching MONDO:0006145 chondroid chordoma skos:exactMatch UMLS:C1266173 semapv:UnspecifiedMatching MONDO:0006146 chondroid hamartoma skos:exactMatch NCIT:C42589 Chondroid Hamartoma semapv:UnspecifiedMatching MONDO:0006146 chondroid hamartoma skos:exactMatch UMLS:C1707390 semapv:UnspecifiedMatching MONDO:0006149 clear cell papillary cystadenoma skos:exactMatch NCIT:C65203 Clear Cell Papillary Cystadenoma semapv:UnspecifiedMatching MONDO:0006149 clear cell papillary cystadenoma skos:exactMatch UMLS:C1880102 semapv:UnspecifiedMatching MONDO:0006150 colon Burkitt lymphoma skos:exactMatch NCIT:C27465 Colon Burkitt Lymphoma semapv:UnspecifiedMatching MONDO:0006150 colon Burkitt lymphoma skos:exactMatch UMLS:C1333083 semapv:UnspecifiedMatching MONDO:0006151 colon dysplasia skos:exactMatch NCIT:C4847 Colon Dysplasia semapv:UnspecifiedMatching MONDO:0006151 colon dysplasia skos:exactMatch SCTID:308870004 semapv:UnspecifiedMatching MONDO:0006151 colon dysplasia skos:exactMatch UMLS:C1302363 semapv:UnspecifiedMatching MONDO:0006152 colon inflammatory polyp skos:exactMatch NCIT:C5517 Colon Inflammatory Polyp semapv:UnspecifiedMatching MONDO:0006152 colon inflammatory polyp skos:exactMatch UMLS:C0267392 semapv:UnspecifiedMatching MONDO:0006153 colon juvenile polyp skos:exactMatch NCIT:C5518 Colon Juvenile Polyp semapv:UnspecifiedMatching MONDO:0006153 colon juvenile polyp skos:exactMatch UMLS:C1333090 semapv:UnspecifiedMatching MONDO:0006154 colon mucosa-associated lymphoid tissue lymphoma skos:exactMatch NCIT:C5498 Colon Mucosa-Associated Lymphoid Tissue Lymphoma semapv:UnspecifiedMatching MONDO:0006154 colon mucosa-associated lymphoid tissue lymphoma skos:exactMatch UMLS:C1333096 semapv:UnspecifiedMatching MONDO:0006155 colon neuroendocrine tumor G1 skos:exactMatch NCIT:C5497 Colon Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0006156 colon sessile serrated adenoma/polyp skos:exactMatch NCIT:C96464 Colon Serrated Lesions and Polyps semapv:UnspecifiedMatching MONDO:0006156 colon sessile serrated adenoma/polyp skos:exactMatch UMLS:C3272791 semapv:UnspecifiedMatching MONDO:0006157 colorectal adenosquamous carcinoma skos:exactMatch NCIT:C43589 Colorectal Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0006157 colorectal adenosquamous carcinoma skos:exactMatch UMLS:C1707437 semapv:UnspecifiedMatching MONDO:0006158 colorectal diffuse large B-cell lymphoma skos:exactMatch NCIT:C96503 Colorectal Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006158 colorectal diffuse large B-cell lymphoma skos:exactMatch UMLS:C3272827 semapv:UnspecifiedMatching MONDO:0006159 colorectal gastrointestinal stromal tumor skos:exactMatch NCIT:C27735 Colorectal Gastrointestinal Stromal Tumor semapv:UnspecifiedMatching MONDO:0006159 colorectal gastrointestinal stromal tumor skos:exactMatch UMLS:C1333109 semapv:UnspecifiedMatching MONDO:0006160 colorectal hamartoma skos:exactMatch NCIT:C96474 Colorectal Hamartoma semapv:UnspecifiedMatching MONDO:0006160 colorectal hamartoma skos:exactMatch UMLS:C3272801 semapv:UnspecifiedMatching MONDO:0006161 colorectal juvenile polyp skos:exactMatch NCIT:C5681 Colorectal Juvenile Polyp semapv:UnspecifiedMatching MONDO:0006162 colorectal neuroendocrine tumor G1 skos:exactMatch NCIT:C96160 Colorectal Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0006162 colorectal neuroendocrine tumor G1 skos:exactMatch UMLS:C3272611 semapv:UnspecifiedMatching MONDO:0006163 colorectal serrated adenocarcinoma skos:exactMatch NCIT:C96485 Colorectal Serrated Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006163 colorectal serrated adenocarcinoma skos:exactMatch UMLS:C3272809 semapv:UnspecifiedMatching MONDO:0006164 colorectal sessile serrated adenoma/polyp skos:exactMatch NCIT:C83176 Colorectal Serrated Lesions and Polyps semapv:UnspecifiedMatching MONDO:0006164 colorectal sessile serrated adenoma/polyp skos:exactMatch UMLS:C2826783 semapv:UnspecifiedMatching MONDO:0006165 colorectal squamous cell carcinoma skos:exactMatch NCIT:C43588 Colorectal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006165 colorectal squamous cell carcinoma skos:exactMatch UMLS:C1707442 semapv:UnspecifiedMatching MONDO:0006166 columnar cell hyperplasia of the breast skos:exactMatch NCIT:C54183 Breast Columnar Cell Hyperplasia semapv:UnspecifiedMatching MONDO:0006166 columnar cell hyperplasia of the breast skos:exactMatch UMLS:C1707446 semapv:UnspecifiedMatching MONDO:0006167 combined lung carcinoma skos:exactMatch NCIT:C7591 Combined Lung Carcinoma semapv:UnspecifiedMatching MONDO:0006167 combined lung carcinoma skos:exactMatch UMLS:C1333123 semapv:UnspecifiedMatching MONDO:0006169 complex endometrial hyperplasia skos:exactMatch NCIT:C35423 Complex Endometrial Hyperplasia semapv:UnspecifiedMatching MONDO:0006169 complex endometrial hyperplasia skos:exactMatch SCTID:198322002 semapv:UnspecifiedMatching MONDO:0006169 complex endometrial hyperplasia skos:exactMatch UMLS:C0349578 semapv:UnspecifiedMatching MONDO:0006170 conjunctival disorder skos:exactMatch DOID:4251 conjunctival disease semapv:UnspecifiedMatching MONDO:0006170 conjunctival disorder skos:exactMatch ICD10CM:H10-H11 Disorders of conjunctiva (H10-H11) semapv:UnspecifiedMatching MONDO:0006170 conjunctival disorder skos:exactMatch NCIT:C27605 Conjunctival Disorder semapv:UnspecifiedMatching MONDO:0006172 conjunctival nevus skos:exactMatch DOID:0050906 conjunctival nevus semapv:UnspecifiedMatching MONDO:0006172 conjunctival nevus skos:exactMatch NCIT:C4551 Conjunctival Nevus semapv:UnspecifiedMatching MONDO:0006172 conjunctival nevus skos:exactMatch SCTID:255006004 semapv:UnspecifiedMatching MONDO:0006172 conjunctival nevus skos:exactMatch UMLS:C0346363 semapv:UnspecifiedMatching MONDO:0006173 conjunctival squamous cell carcinoma skos:exactMatch DOID:1748 conjunctival squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006173 conjunctival squamous cell carcinoma skos:exactMatch NCIT:C4549 Conjunctival Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006173 conjunctival squamous cell carcinoma skos:exactMatch SCTID:255003007 semapv:UnspecifiedMatching MONDO:0006173 conjunctival squamous cell carcinoma skos:exactMatch UMLS:C0346359 semapv:UnspecifiedMatching MONDO:0006174 cortisol-producing adrenal cortex adenoma skos:exactMatch NCIT:C48449 Cortisol-Producing Adrenal Cortical Adenoma semapv:UnspecifiedMatching MONDO:0006174 cortisol-producing adrenal cortex adenoma skos:exactMatch UMLS:C1707525 semapv:UnspecifiedMatching MONDO:0006176 cribriform carcinoma skos:exactMatch NCIT:C3680 Cribriform Carcinoma semapv:UnspecifiedMatching MONDO:0006176 cribriform carcinoma skos:exactMatch UMLS:C0205643 semapv:UnspecifiedMatching MONDO:0006178 dedifferentiated solitary fibrous tumor skos:exactMatch NCIT:C79948 Dedifferentiated Solitary Fibrous Tumor semapv:UnspecifiedMatching MONDO:0006178 dedifferentiated solitary fibrous tumor skos:exactMatch UMLS:C2699572 semapv:UnspecifiedMatching MONDO:0006179 desmoplastic ameloblastoma skos:exactMatch NCIT:C39758 Desmoplastic Ameloblastoma semapv:UnspecifiedMatching MONDO:0006179 desmoplastic ameloblastoma skos:exactMatch UMLS:C0457533 semapv:UnspecifiedMatching MONDO:0006180 digestive system adenoma skos:exactMatch DOID:4147 gastrointestinal adenoma semapv:UnspecifiedMatching MONDO:0006180 digestive system adenoma skos:exactMatch NCIT:C36207 Digestive System Adenoma semapv:UnspecifiedMatching MONDO:0006180 digestive system adenoma skos:exactMatch UMLS:C0948101 semapv:UnspecifiedMatching MONDO:0006181 digestive system carcinoma skos:exactMatch DOID:0050922 gastrointestinal carcinoma semapv:UnspecifiedMatching MONDO:0006181 digestive system carcinoma skos:exactMatch NCIT:C96963 Digestive System Carcinoma semapv:UnspecifiedMatching MONDO:0006181 digestive system carcinoma skos:exactMatch UMLS:C0151544 semapv:UnspecifiedMatching MONDO:0006182 digestive system mixed adenoneuroendocrine carcinoma skos:exactMatch NCIT:C95406 Digestive System Mixed Adenoneuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006182 digestive system mixed adenoneuroendocrine carcinoma skos:exactMatch UMLS:C2987129 semapv:UnspecifiedMatching MONDO:0006183 disseminated peritoneal leiomyomatosis skos:exactMatch DOID:5728 diffuse peritoneal leiomyomatosis semapv:UnspecifiedMatching MONDO:0006183 disseminated peritoneal leiomyomatosis skos:exactMatch NCIT:C3958 Disseminated Peritoneal Leiomyomatosis semapv:UnspecifiedMatching MONDO:0006183 disseminated peritoneal leiomyomatosis skos:exactMatch Orphanet:71274 Disseminated peritoneal leiomyomatosis semapv:UnspecifiedMatching MONDO:0006183 disseminated peritoneal leiomyomatosis skos:exactMatch SCTID:62557001 semapv:UnspecifiedMatching MONDO:0006183 disseminated peritoneal leiomyomatosis skos:exactMatch UMLS:C0267785 semapv:UnspecifiedMatching MONDO:0006184 ductal breast carcinoma in situ and lobular carcinoma in situ skos:exactMatch NCIT:C4195 Breast Ductal Carcinoma In Situ and Lobular Carcinoma In Situ semapv:UnspecifiedMatching MONDO:0006184 ductal breast carcinoma in situ and lobular carcinoma in situ skos:exactMatch UMLS:C0334383 semapv:UnspecifiedMatching MONDO:0006186 duodenal adenocarcinoma skos:exactMatch DOID:10816 duodenum adenocarcinoma semapv:UnspecifiedMatching MONDO:0006186 duodenal adenocarcinoma skos:exactMatch NCIT:C7889 Duodenal Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006186 duodenal adenocarcinoma skos:exactMatch SCTID:408644002 semapv:UnspecifiedMatching MONDO:0006186 duodenal adenocarcinoma skos:exactMatch UMLS:C0278804 semapv:UnspecifiedMatching MONDO:0006187 duodenal villous adenoma skos:exactMatch DOID:0050927 duodenum adenoma semapv:UnspecifiedMatching MONDO:0006187 duodenal villous adenoma skos:exactMatch NCIT:C5338 Duodenal Villous Adenoma semapv:UnspecifiedMatching MONDO:0006187 duodenal villous adenoma skos:exactMatch UMLS:C1333322 semapv:UnspecifiedMatching MONDO:0006188 EBV-positive T-cell lymphoproliferative disorder of childhood skos:exactMatch NCIT:C80373 EBV-Positive T-Cell/NK-Cell Lymphoproliferative Disorder of Childhood semapv:UnspecifiedMatching MONDO:0006188 EBV-positive T-cell lymphoproliferative disorder of childhood skos:exactMatch UMLS:C2699838 semapv:UnspecifiedMatching MONDO:0006189 eccrine porocarcinoma skos:exactMatch DOID:7566 eccrine porocarcinoma semapv:UnspecifiedMatching MONDO:0006189 eccrine porocarcinoma skos:exactMatch NCIT:C5560 Porocarcinoma semapv:UnspecifiedMatching MONDO:0006189 eccrine porocarcinoma skos:exactMatch SCTID:254708001 semapv:UnspecifiedMatching MONDO:0006189 eccrine porocarcinoma skos:exactMatch UMLS:C1266065 semapv:UnspecifiedMatching MONDO:0006189 eccrine porocarcinoma skos:exactMatch mesh:D057090 semapv:UnspecifiedMatching MONDO:0006190 endolymphatic sac tumor skos:exactMatch NCIT:C67560 Endolymphatic Sac Tumor semapv:UnspecifiedMatching MONDO:0006190 endolymphatic sac tumor skos:exactMatch SCTID:699817008 semapv:UnspecifiedMatching MONDO:0006190 endolymphatic sac tumor skos:exactMatch UMLS:C2348239 semapv:UnspecifiedMatching MONDO:0006191 endometrial clear cell adenocarcinoma skos:exactMatch DOID:5299 endometrial clear cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0006191 endometrial clear cell adenocarcinoma skos:exactMatch NCIT:C8028 Endometrial Clear Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006191 endometrial clear cell adenocarcinoma skos:exactMatch UMLS:C0279765 semapv:UnspecifiedMatching MONDO:0006192 endometrial endometrioid adenocarcinoma skos:exactMatch NCIT:C6287 Endometrial Endometrioid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006192 endometrial endometrioid adenocarcinoma skos:exactMatch UMLS:C1336905 semapv:UnspecifiedMatching MONDO:0006193 endometrial hyperplasia without atypia skos:exactMatch NCIT:C40157 Endometrial Hyperplasia without Atypia semapv:UnspecifiedMatching MONDO:0006193 endometrial hyperplasia without atypia skos:exactMatch SCTID:134031000119108 semapv:UnspecifiedMatching MONDO:0006195 endometrial polyp skos:exactMatch NCIT:C6433 Endometrial Polyp semapv:UnspecifiedMatching MONDO:0006196 endometrial serous adenocarcinoma skos:exactMatch NCIT:C27838 Endometrial Serous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006197 endometrial small cell carcinoma skos:exactMatch DOID:7139 endometrial small cell carcinoma semapv:UnspecifiedMatching MONDO:0006197 endometrial small cell carcinoma skos:exactMatch NCIT:C40155 Endometrial Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006197 endometrial small cell carcinoma skos:exactMatch UMLS:C1516858 semapv:UnspecifiedMatching MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch DOID:5533 endometrial squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch NCIT:C8719 Endometrial Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch UMLS:C1333396 semapv:UnspecifiedMatching MONDO:0006199 endometrial undifferentiated carcinoma skos:exactMatch NCIT:C40156 Endometrial Undifferentiated Carcinoma semapv:UnspecifiedMatching MONDO:0006199 endometrial undifferentiated carcinoma skos:exactMatch UMLS:C1516865 semapv:UnspecifiedMatching MONDO:0006200 epithelioid cell uveal melanoma skos:exactMatch DOID:7040 uveal epithelioid cell melanoma semapv:UnspecifiedMatching MONDO:0006200 epithelioid cell uveal melanoma skos:exactMatch NCIT:C35780 Uveal Epithelioid Cell Melanoma semapv:UnspecifiedMatching MONDO:0006200 epithelioid cell uveal melanoma skos:exactMatch UMLS:C1333422 semapv:UnspecifiedMatching MONDO:0006201 ethmoid sinus adenoid cystic carcinoma skos:exactMatch DOID:2764 ethmoid sinus adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0006201 ethmoid sinus adenoid cystic carcinoma skos:exactMatch NCIT:C6238 Ethmoid Sinus Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006201 ethmoid sinus adenoid cystic carcinoma skos:exactMatch UMLS:C1333473 semapv:UnspecifiedMatching MONDO:0006202 extrahepatic bile duct adenosquamous carcinoma skos:exactMatch NCIT:C5778 Extrahepatic Bile Duct Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0006203 extrahepatic bile duct squamous cell carcinoma skos:exactMatch NCIT:C5777 Extrahepatic Bile Duct Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006206 fallopian tube carcinoma skos:exactMatch DOID:1963 fallopian tube carcinoma semapv:UnspecifiedMatching MONDO:0006206 fallopian tube carcinoma skos:exactMatch NCIT:C3867 Fallopian Tube Carcinoma semapv:UnspecifiedMatching MONDO:0006206 fallopian tube carcinoma skos:exactMatch SCTID:276870001 semapv:UnspecifiedMatching MONDO:0006206 fallopian tube carcinoma skos:exactMatch UMLS:C0238122 semapv:UnspecifiedMatching MONDO:0006207 fallopian tube carcinosarcoma skos:exactMatch DOID:1970 fallopian tube carcinosarcoma semapv:UnspecifiedMatching MONDO:0006207 fallopian tube carcinosarcoma skos:exactMatch NCIT:C40124 Fallopian Tube Carcinosarcoma semapv:UnspecifiedMatching MONDO:0006207 fallopian tube carcinosarcoma skos:exactMatch UMLS:C1517117 semapv:UnspecifiedMatching MONDO:0006208 fallopian tube serous adenocarcinoma skos:exactMatch DOID:5598 fallopian tube serous adenocarcinoma semapv:UnspecifiedMatching MONDO:0006208 fallopian tube serous adenocarcinoma skos:exactMatch NCIT:C40099 Fallopian Tube Serous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006208 fallopian tube serous adenocarcinoma skos:exactMatch UMLS:C1517124 semapv:UnspecifiedMatching MONDO:0006209 fibroblastic neoplasm skos:exactMatch NCIT:C7075 Fibroblastic Neoplasm semapv:UnspecifiedMatching MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:exactMatch DOID:5015 fibrolamellar carcinoma semapv:UnspecifiedMatching MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:exactMatch NCIT:C4131 Fibrolamellar Carcinoma semapv:UnspecifiedMatching MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:exactMatch Orphanet:401920 Fibrolamellar hepatocellular carcinoma semapv:UnspecifiedMatching MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:exactMatch SCTID:253018005 semapv:UnspecifiedMatching MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:exactMatch UMLS:C0334287 semapv:UnspecifiedMatching MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:exactMatch mesh:C537258 semapv:UnspecifiedMatching MONDO:0006211 fibrous hamartoma of infancy skos:exactMatch NCIT:C3942 Fibrous Hamartoma of Infancy semapv:UnspecifiedMatching MONDO:0006211 fibrous hamartoma of infancy skos:exactMatch SCTID:56364004 semapv:UnspecifiedMatching MONDO:0006211 fibrous hamartoma of infancy skos:exactMatch UMLS:C0265979 semapv:UnspecifiedMatching MONDO:0006212 flat urothelial hyperplasia skos:exactMatch NCIT:C27878 Flat Urothelial Hyperplasia semapv:UnspecifiedMatching MONDO:0006213 floor of mouth mucoepidermoid carcinoma skos:exactMatch NCIT:C8178 Floor of Mouth Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0006213 floor of mouth mucoepidermoid carcinoma skos:exactMatch UMLS:C0280310 semapv:UnspecifiedMatching MONDO:0006214 follicular variant thyroid gland papillary carcinoma skos:exactMatch NCIT:C126594 Follicular Variant Thyroid Gland Papillary Carcinoma semapv:UnspecifiedMatching MONDO:0006214 follicular variant thyroid gland papillary carcinoma skos:exactMatch UMLS:C3714651 semapv:UnspecifiedMatching MONDO:0006215 gallbladder adenocarcinoma skos:exactMatch DOID:3500 gallbladder adenocarcinoma semapv:UnspecifiedMatching MONDO:0006215 gallbladder adenocarcinoma skos:exactMatch NCIT:C9166 Gallbladder Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006215 gallbladder adenocarcinoma skos:exactMatch UMLS:C0279651 semapv:UnspecifiedMatching MONDO:0006216 gallbladder adenoma skos:exactMatch DOID:0050893 gallbladder adenoma semapv:UnspecifiedMatching MONDO:0006216 gallbladder adenoma skos:exactMatch NCIT:C7720 Gallbladder Adenoma semapv:UnspecifiedMatching MONDO:0006216 gallbladder adenoma skos:exactMatch UMLS:C0238137 semapv:UnspecifiedMatching MONDO:0006217 gallbladder adenosquamous carcinoma skos:exactMatch DOID:5627 adenosquamous gallbladder carcinoma semapv:UnspecifiedMatching MONDO:0006217 gallbladder adenosquamous carcinoma skos:exactMatch NCIT:C7356 Gallbladder Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0006217 gallbladder adenosquamous carcinoma skos:exactMatch UMLS:C1333741 semapv:UnspecifiedMatching MONDO:0006218 gallbladder biliary intraepithelial neoplasia skos:exactMatch NCIT:C43606 Gallbladder Biliary Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO:0006218 gallbladder biliary intraepithelial neoplasia skos:exactMatch UMLS:C1708174 semapv:UnspecifiedMatching MONDO:0006219 gallbladder small cell neuroendocrine carcinoma skos:exactMatch DOID:7133 gallbladder small cell carcinoma semapv:UnspecifiedMatching MONDO:0006219 gallbladder small cell neuroendocrine carcinoma skos:exactMatch NCIT:C6763 Gallbladder Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006219 gallbladder small cell neuroendocrine carcinoma skos:exactMatch UMLS:C1333759 semapv:UnspecifiedMatching MONDO:0006220 gallbladder squamous cell carcinoma skos:exactMatch DOID:5535 gallbladder squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006220 gallbladder squamous cell carcinoma skos:exactMatch NCIT:C9170 Gallbladder Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006220 gallbladder squamous cell carcinoma skos:exactMatch UMLS:C0279658 semapv:UnspecifiedMatching MONDO:0006221 gastric adenoma skos:exactMatch NCIT:C7699 Gastric Adenoma semapv:UnspecifiedMatching MONDO:0006221 gastric adenoma skos:exactMatch UMLS:C0149826 semapv:UnspecifiedMatching MONDO:0006222 gastric choriocarcinoma skos:exactMatch NCIT:C95749 Gastric Choriocarcinoma semapv:UnspecifiedMatching MONDO:0006222 gastric choriocarcinoma skos:exactMatch UMLS:C2987398 semapv:UnspecifiedMatching MONDO:0006223 gastric diffuse large B-cell lymphoma skos:exactMatch NCIT:C5253 Gastric Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006223 gastric diffuse large B-cell lymphoma skos:exactMatch UMLS:C1335483 semapv:UnspecifiedMatching MONDO:0006224 gastric hamartomatous polyp skos:exactMatch NCIT:C4373 Gastric Hamartomatous Polyp semapv:UnspecifiedMatching MONDO:0006224 gastric hamartomatous polyp skos:exactMatch SCTID:235685007 semapv:UnspecifiedMatching MONDO:0006224 gastric hamartomatous polyp skos:exactMatch UMLS:C0341225 semapv:UnspecifiedMatching MONDO:0006225 gastric mantle cell lymphoma skos:exactMatch NCIT:C27440 Gastric Mantle Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006225 gastric mantle cell lymphoma skos:exactMatch UMLS:C1333780 semapv:UnspecifiedMatching MONDO:0006226 gastric mucosa-associated lymphoid tissue lymphoma skos:exactMatch NCIT:C5266 Gastric Mucosa-Associated Lymphoid Tissue Lymphoma semapv:UnspecifiedMatching MONDO:0006226 gastric mucosa-associated lymphoid tissue lymphoma skos:exactMatch UMLS:C1333782 semapv:UnspecifiedMatching MONDO:0006227 gastric neuroendocrine tumor G1 skos:exactMatch NCIT:C4635 Gastric Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0006227 gastric neuroendocrine tumor G1 skos:exactMatch UMLS:C0349529 semapv:UnspecifiedMatching MONDO:0006228 gastric papillary adenocarcinoma skos:exactMatch DOID:5593 gastric papillary adenocarcinoma semapv:UnspecifiedMatching MONDO:0006228 gastric papillary adenocarcinoma skos:exactMatch NCIT:C5472 Gastric Papillary Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006228 gastric papillary adenocarcinoma skos:exactMatch UMLS:C1333785 semapv:UnspecifiedMatching MONDO:0006229 gastric small cell neuroendocrine carcinoma skos:exactMatch DOID:6552 gastric small cell carcinoma semapv:UnspecifiedMatching MONDO:0006229 gastric small cell neuroendocrine carcinoma skos:exactMatch NCIT:C6764 Gastric Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006229 gastric small cell neuroendocrine carcinoma skos:exactMatch UMLS:C1333788 semapv:UnspecifiedMatching MONDO:0006230 gastric squamous cell carcinoma skos:exactMatch DOID:5516 gastric squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006230 gastric squamous cell carcinoma skos:exactMatch NCIT:C5475 Gastric Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006230 gastric squamous cell carcinoma skos:exactMatch Orphanet:418959 Squamous cell carcinoma of the stomach semapv:UnspecifiedMatching MONDO:0006230 gastric squamous cell carcinoma skos:exactMatch SCTID:766980008 semapv:UnspecifiedMatching MONDO:0006230 gastric squamous cell carcinoma skos:exactMatch UMLS:C1333789 semapv:UnspecifiedMatching MONDO:0006231 gastrointestinal hamartoma skos:exactMatch NCIT:C96475 Gastrointestinal Hamartoma semapv:UnspecifiedMatching MONDO:0006231 gastrointestinal hamartoma skos:exactMatch UMLS:C3272802 semapv:UnspecifiedMatching MONDO:0006232 giant cell tumor of soft tissue skos:exactMatch NCIT:C49107 Giant Cell Tumor of Soft Tissue semapv:UnspecifiedMatching MONDO:0006232 giant cell tumor of soft tissue skos:exactMatch UMLS:C0334553 semapv:UnspecifiedMatching MONDO:0006233 gonadal teratoma skos:exactMatch NCIT:C98291 Gonadal Teratoma semapv:UnspecifiedMatching MONDO:0006233 gonadal teratoma skos:exactMatch UMLS:C3273942 semapv:UnspecifiedMatching MONDO:0006234 grade III prostatic intraepithelial neoplasia skos:exactMatch DOID:8634 prostate carcinoma in situ semapv:UnspecifiedMatching MONDO:0006234 grade III prostatic intraepithelial neoplasia skos:exactMatch ICD10CM:D07.5 Carcinoma in situ of prostate semapv:UnspecifiedMatching MONDO:0006234 grade III prostatic intraepithelial neoplasia skos:exactMatch NCIT:C3642 Grade III Prostatic Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO:0006234 grade III prostatic intraepithelial neoplasia skos:exactMatch SCTID:92691004 semapv:UnspecifiedMatching MONDO:0006234 grade III prostatic intraepithelial neoplasia skos:exactMatch UMLS:C5200982 semapv:UnspecifiedMatching MONDO:0006235 granular cell tumor skos:exactMatch DOID:2411 granular cell tumor semapv:UnspecifiedMatching MONDO:0006235 granular cell tumor skos:exactMatch NCIT:C3474 Granular Cell Tumor semapv:UnspecifiedMatching MONDO:0006235 granular cell tumor skos:exactMatch SCTID:404035005 semapv:UnspecifiedMatching MONDO:0006235 granular cell tumor skos:exactMatch UMLS:C0085167 semapv:UnspecifiedMatching MONDO:0006235 granular cell tumor skos:exactMatch mesh:C535558 semapv:UnspecifiedMatching MONDO:0006235 granular cell tumor skos:exactMatch mesh:D016586 semapv:UnspecifiedMatching MONDO:0006237 granulocytic sarcoma skos:exactMatch NCIT:C35815 Granulocytic Sarcoma semapv:UnspecifiedMatching MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:exactMatch DOID:6255 growth hormone secreting pituitary adenoma semapv:UnspecifiedMatching MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:exactMatch NCIT:C7461 Somatotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:exactMatch Orphanet:96256 Somatotropic adenoma semapv:UnspecifiedMatching MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:exactMatch SCTID:254957009 semapv:UnspecifiedMatching MONDO:0006239 head and neck paraganglioma skos:exactMatch NCIT:C5327 Head and Neck Paraganglioma semapv:UnspecifiedMatching MONDO:0006239 head and neck paraganglioma skos:exactMatch UMLS:C1333944 semapv:UnspecifiedMatching MONDO:0006241 hepatic granuloma skos:exactMatch SCTID:714253009 semapv:UnspecifiedMatching MONDO:0006241 hepatic granuloma skos:exactMatch UMLS:C0745754 semapv:UnspecifiedMatching MONDO:0006243 hepatoid adenocarcinoma skos:exactMatch DOID:0060534 hepatoid adenocarcinoma semapv:UnspecifiedMatching MONDO:0006243 hepatoid adenocarcinoma skos:exactMatch NCIT:C66950 Hepatoid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006243 hepatoid adenocarcinoma skos:exactMatch UMLS:C1266090 semapv:UnspecifiedMatching MONDO:0006244 HER2 positive breast carcinoma skos:exactMatch DOID:0060079 Her2-receptor positive breast cancer semapv:UnspecifiedMatching MONDO:0006244 HER2 positive breast carcinoma skos:exactMatch NCIT:C53556 HER2-Positive Breast Carcinoma semapv:UnspecifiedMatching MONDO:0006244 HER2 positive breast carcinoma skos:exactMatch SCTID:427685000 semapv:UnspecifiedMatching MONDO:0006244 HER2 positive breast carcinoma skos:exactMatch UMLS:C1960398 semapv:UnspecifiedMatching MONDO:0006245 hidradenocarcinoma skos:exactMatch NCIT:C54664 Hidradenocarcinoma semapv:UnspecifiedMatching MONDO:0006246 high grade surface osteosarcoma skos:exactMatch NCIT:C53958 High Grade Surface Osteosarcoma semapv:UnspecifiedMatching MONDO:0006246 high grade surface osteosarcoma skos:exactMatch UMLS:C1266165 semapv:UnspecifiedMatching MONDO:0006247 histiocytic and dendritic cell neoplasm skos:exactMatch DOID:5621 histiocytic and dendritic cell cancer semapv:UnspecifiedMatching MONDO:0006247 histiocytic and dendritic cell neoplasm skos:exactMatch NCIT:C9294 Histiocytic and Dendritic Cell Neoplasm semapv:UnspecifiedMatching MONDO:0006247 histiocytic and dendritic cell neoplasm skos:exactMatch Orphanet:98287 Histiocytic and dendritic cell tumor semapv:UnspecifiedMatching MONDO:0006247 histiocytic and dendritic cell neoplasm skos:exactMatch UMLS:C1334030 semapv:UnspecifiedMatching MONDO:0006248 hydatidiform mole skos:exactMatch NCIT:C3110 Hydatidiform Mole semapv:UnspecifiedMatching MONDO:0006248 hydatidiform mole skos:exactMatch OMIMPS:231090 semapv:UnspecifiedMatching MONDO:0006248 hydatidiform mole skos:exactMatch Orphanet:99927 Hydatidiform mole semapv:UnspecifiedMatching MONDO:0006248 hydatidiform mole skos:exactMatch SCTID:44782008 semapv:UnspecifiedMatching MONDO:0006248 hydatidiform mole skos:exactMatch UMLS:C0020217 semapv:UnspecifiedMatching MONDO:0006248 hydatidiform mole skos:exactMatch mesh:D006828 semapv:UnspecifiedMatching MONDO:0006249 hyperplastic polyp skos:exactMatch NCIT:C4083 Hyperplastic Polyp semapv:UnspecifiedMatching MONDO:0006249 hyperplastic polyp skos:exactMatch UMLS:C0333983 semapv:UnspecifiedMatching MONDO:0006250 ileal neuroendocrine tumor G1 skos:exactMatch NCIT:C4935 Ileal Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0006250 ileal neuroendocrine tumor G1 skos:exactMatch SCTID:425318003 semapv:UnspecifiedMatching MONDO:0006250 ileal neuroendocrine tumor G1 skos:exactMatch UMLS:C0745216 semapv:UnspecifiedMatching MONDO:0006254 intestinal type adenocarcinoma skos:exactMatch NCIT:C4126 Intestinal-Type Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006254 intestinal type adenocarcinoma skos:exactMatch UMLS:C0334279 semapv:UnspecifiedMatching MONDO:0006255 intimal sarcoma skos:exactMatch NCIT:C53677 Intimal Sarcoma semapv:UnspecifiedMatching MONDO:0006255 intimal sarcoma skos:exactMatch UMLS:C1708550 semapv:UnspecifiedMatching MONDO:0006256 invasive breast carcinoma skos:exactMatch NCIT:C9245 Invasive Breast Carcinoma semapv:UnspecifiedMatching MONDO:0006256 invasive breast carcinoma skos:exactMatch SCTID:713609000 semapv:UnspecifiedMatching MONDO:0006256 invasive breast carcinoma skos:exactMatch UMLS:C0853879 semapv:UnspecifiedMatching MONDO:0006257 jejunal neuroendocrine tumor G1 skos:exactMatch NCIT:C6429 Jejunal Neuroendocrine Tumor G1 semapv:UnspecifiedMatching MONDO:0006257 jejunal neuroendocrine tumor G1 skos:exactMatch UMLS:C1334296 semapv:UnspecifiedMatching MONDO:0006258 juvenile polyp skos:exactMatch NCIT:C3826 Juvenile Polyp semapv:UnspecifiedMatching MONDO:0006258 juvenile polyp skos:exactMatch UMLS:C0221273 semapv:UnspecifiedMatching MONDO:0006260 kidney medullary carcinoma skos:exactMatch NCIT:C7572 Kidney Medullary Carcinoma semapv:UnspecifiedMatching MONDO:0006260 kidney medullary carcinoma skos:exactMatch Orphanet:319319 Renal medullary carcinoma semapv:UnspecifiedMatching MONDO:0006260 kidney medullary carcinoma skos:exactMatch UMLS:C4049328 semapv:UnspecifiedMatching MONDO:0006262 lacrimal gland adenoid cystic carcinoma skos:exactMatch DOID:4870 lacrimal gland adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0006262 lacrimal gland adenoid cystic carcinoma skos:exactMatch NCIT:C4540 Lacrimal Gland Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006262 lacrimal gland adenoid cystic carcinoma skos:exactMatch SCTID:254987003 semapv:UnspecifiedMatching MONDO:0006262 lacrimal gland adenoid cystic carcinoma skos:exactMatch UMLS:C0346340 semapv:UnspecifiedMatching MONDO:0006264 laryngeal adenoid cystic carcinoma skos:exactMatch DOID:4869 laryngeal adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0006264 laryngeal adenoid cystic carcinoma skos:exactMatch NCIT:C9462 Laryngeal Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006264 laryngeal adenoid cystic carcinoma skos:exactMatch UMLS:C1334368 semapv:UnspecifiedMatching MONDO:0006265 laryngeal small cell carcinoma skos:exactMatch DOID:7144 laryngeal small cell carcinoma semapv:UnspecifiedMatching MONDO:0006265 laryngeal small cell carcinoma skos:exactMatch NCIT:C6025 Laryngeal Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006265 laryngeal small cell carcinoma skos:exactMatch UMLS:C1334378 semapv:UnspecifiedMatching MONDO:0006266 Leydig cell tumor skos:exactMatch DOID:2696 Leydig cell tumor semapv:UnspecifiedMatching MONDO:0006266 Leydig cell tumor skos:exactMatch NCIT:C3188 Leydig Cell Tumor semapv:UnspecifiedMatching MONDO:0006266 Leydig cell tumor skos:exactMatch UMLS:C0023601 semapv:UnspecifiedMatching MONDO:0006266 Leydig cell tumor skos:exactMatch mesh:D007984 semapv:UnspecifiedMatching MONDO:0006267 liver cavernous hemangioma skos:exactMatch NCIT:C96839 Liver Cavernous Hemangioma semapv:UnspecifiedMatching MONDO:0006267 liver cavernous hemangioma skos:exactMatch UMLS:C3282904 semapv:UnspecifiedMatching MONDO:0006268 liver diffuse large B-cell lymphoma skos:exactMatch NCIT:C96843 Liver Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006268 liver diffuse large B-cell lymphoma skos:exactMatch UMLS:C2184126 semapv:UnspecifiedMatching MONDO:0006270 lobular breast carcinoma in situ skos:exactMatch NCIT:C4018 Breast Lobular Carcinoma In Situ semapv:UnspecifiedMatching MONDO:0006270 lobular breast carcinoma in situ skos:exactMatch SCTID:109888004 semapv:UnspecifiedMatching MONDO:0006270 lobular breast carcinoma in situ skos:exactMatch UMLS:C0279563 semapv:UnspecifiedMatching MONDO:0006270 lobular breast carcinoma in situ skos:exactMatch UMLS:C0334381 semapv:UnspecifiedMatching MONDO:0006271 low grade central osteosarcoma skos:exactMatch NCIT:C6474 Low Grade Central Osteosarcoma semapv:UnspecifiedMatching MONDO:0006271 low grade central osteosarcoma skos:exactMatch UMLS:C3814534 semapv:UnspecifiedMatching MONDO:0006272 low grade fibromyxoid sarcoma skos:exactMatch NCIT:C45202 Low Grade Fibromyxoid Sarcoma semapv:UnspecifiedMatching MONDO:0006272 low grade fibromyxoid sarcoma skos:exactMatch SCTID:404088004 semapv:UnspecifiedMatching MONDO:0006272 low grade fibromyxoid sarcoma skos:exactMatch UMLS:C1275282 semapv:UnspecifiedMatching MONDO:0006273 low grade fibromyxoid sarcoma with giant collagen rosettes skos:exactMatch NCIT:C45203 Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes semapv:UnspecifiedMatching MONDO:0006273 low grade fibromyxoid sarcoma with giant collagen rosettes skos:exactMatch UMLS:C1708749 semapv:UnspecifiedMatching MONDO:0006274 low grade vulvar intraepithelial neoplasia skos:exactMatch NCIT:C4760 Low Grade Vulvar Squamous Intraepithelial Lesion semapv:UnspecifiedMatching MONDO:0006274 low grade vulvar intraepithelial neoplasia skos:exactMatch UMLS:C0495106 semapv:UnspecifiedMatching MONDO:0006275 lung giant cell carcinoma skos:exactMatch DOID:5583 lung giant cell carcinoma semapv:UnspecifiedMatching MONDO:0006275 lung giant cell carcinoma skos:exactMatch NCIT:C4452 Lung Giant Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006275 lung giant cell carcinoma skos:exactMatch SCTID:254631008 semapv:UnspecifiedMatching MONDO:0006275 lung giant cell carcinoma skos:exactMatch UMLS:C0345960 semapv:UnspecifiedMatching MONDO:0006275 lung giant cell carcinoma skos:exactMatch mesh:D018286 semapv:UnspecifiedMatching MONDO:0006276 lung inflammatory myofibroblastic tumor skos:exactMatch NCIT:C39740 Lung Inflammatory Myofibroblastic Tumor semapv:UnspecifiedMatching MONDO:0006276 lung inflammatory myofibroblastic tumor skos:exactMatch UMLS:C1518038 semapv:UnspecifiedMatching MONDO:0006277 lung lymphangioleiomyomatosis skos:exactMatch DOID:3319 lymphangioleiomyomatosis semapv:UnspecifiedMatching MONDO:0006277 lung lymphangioleiomyomatosis skos:exactMatch NCIT:C38153 Lung Lymphangioleiomyomatosis semapv:UnspecifiedMatching MONDO:0006277 lung lymphangioleiomyomatosis skos:exactMatch Orphanet:538 Lymphangioleiomyomatosis semapv:UnspecifiedMatching MONDO:0006277 lung lymphangioleiomyomatosis skos:exactMatch SCTID:277844007 semapv:UnspecifiedMatching MONDO:0006278 lung papilloma skos:exactMatch NCIT:C8295 Bronchial Papilloma semapv:UnspecifiedMatching MONDO:0006278 lung papilloma skos:exactMatch UMLS:C5397991 semapv:UnspecifiedMatching MONDO:0006279 lung sarcomatoid carcinoma skos:exactMatch DOID:0080777 lung sarcomatoid carcinoma semapv:UnspecifiedMatching MONDO:0006279 lung sarcomatoid carcinoma skos:exactMatch NCIT:C45540 Lung Sarcomatoid Carcinoma semapv:UnspecifiedMatching MONDO:0006279 lung sarcomatoid carcinoma skos:exactMatch SCTID:707460002 semapv:UnspecifiedMatching MONDO:0006280 lung sclerosing hemangioma skos:exactMatch DOID:495 sclerosing hemangioma semapv:UnspecifiedMatching MONDO:0006280 lung sclerosing hemangioma skos:exactMatch DOID:5766 pulmonary sclerosing hemangioma semapv:UnspecifiedMatching MONDO:0006280 lung sclerosing hemangioma skos:exactMatch NCIT:C5656 Sclerosing Pneumocytoma semapv:UnspecifiedMatching MONDO:0006280 lung sclerosing hemangioma skos:exactMatch SCTID:707365008 semapv:UnspecifiedMatching MONDO:0006280 lung sclerosing hemangioma skos:exactMatch UMLS:C1509148 semapv:UnspecifiedMatching MONDO:0006280 lung sclerosing hemangioma skos:exactMatch mesh:D047868 semapv:UnspecifiedMatching MONDO:0006281 lung signet ring cell carcinoma skos:exactMatch DOID:0080305 signet ring lung adenocarcinoma semapv:UnspecifiedMatching MONDO:0006281 lung signet ring cell carcinoma skos:exactMatch NCIT:C45514 Lung Signet Ring Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006281 lung signet ring cell carcinoma skos:exactMatch SCTID:707407001 semapv:UnspecifiedMatching MONDO:0006282 lymphangiosarcoma skos:exactMatch DOID:2689 lymphangiosarcoma semapv:UnspecifiedMatching MONDO:0006282 lymphangiosarcoma skos:exactMatch NCIT:C3205 Lymphangiosarcoma semapv:UnspecifiedMatching MONDO:0006282 lymphangiosarcoma skos:exactMatch SCTID:403986008 semapv:UnspecifiedMatching MONDO:0006282 lymphangiosarcoma skos:exactMatch UMLS:C0024224 semapv:UnspecifiedMatching MONDO:0006282 lymphangiosarcoma skos:exactMatch mesh:D008204 semapv:UnspecifiedMatching MONDO:0006283 lymphoepithelioma-like lung carcinoma skos:exactMatch NCIT:C45519 Lung Lymphoepithelial Carcinoma semapv:UnspecifiedMatching MONDO:0006283 lymphoepithelioma-like lung carcinoma skos:exactMatch UMLS:C1708792 semapv:UnspecifiedMatching MONDO:0006284 major salivary gland carcinoma skos:exactMatch NCIT:C5907 Major Salivary Gland Carcinoma semapv:UnspecifiedMatching MONDO:0006284 major salivary gland carcinoma skos:exactMatch UMLS:C1334549 semapv:UnspecifiedMatching MONDO:0006285 major salivary gland carcinoma ex pleomorphic adenoma skos:exactMatch NCIT:C5975 Major Salivary Gland Carcinoma ex Pleomorphic Adenoma semapv:UnspecifiedMatching MONDO:0006285 major salivary gland carcinoma ex pleomorphic adenoma skos:exactMatch UMLS:C1334550 semapv:UnspecifiedMatching MONDO:0006286 major salivary gland mucoepidermoid carcinoma skos:exactMatch NCIT:C5906 Major Salivary Gland Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0006286 major salivary gland mucoepidermoid carcinoma skos:exactMatch UMLS:C1334551 semapv:UnspecifiedMatching MONDO:0006287 malignancy in giant cell tumor of bone skos:exactMatch DOID:4719 bone giant cell sarcoma semapv:UnspecifiedMatching MONDO:0006287 malignancy in giant cell tumor of bone skos:exactMatch NCIT:C4304 Malignancy in Giant Cell Tumor of Bone semapv:UnspecifiedMatching MONDO:0006287 malignancy in giant cell tumor of bone skos:exactMatch UMLS:C0334552 semapv:UnspecifiedMatching MONDO:0006288 malignant adrenal gland pheochromocytoma skos:exactMatch DOID:0080347 malignant pheochromocytoma semapv:UnspecifiedMatching MONDO:0006288 malignant adrenal gland pheochromocytoma skos:exactMatch NCIT:C4220 Metastatic Adrenal Gland Pheochromocytoma semapv:UnspecifiedMatching MONDO:0006288 malignant adrenal gland pheochromocytoma skos:exactMatch SCTID:21851000119103 semapv:UnspecifiedMatching MONDO:0006288 malignant adrenal gland pheochromocytoma skos:exactMatch UMLS:C0334419 semapv:UnspecifiedMatching MONDO:0006290 malignant germ cell tumor skos:exactMatch NCIT:C4925 Malignant Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0006290 malignant germ cell tumor skos:exactMatch SCTID:145831000119103 semapv:UnspecifiedMatching MONDO:0006290 malignant germ cell tumor skos:exactMatch UMLS:C4048549 semapv:UnspecifiedMatching MONDO:0006291 malignant jugulotympanic paraganglioma skos:exactMatch NCIT:C4623 Metastatic Jugulotympanic Paraganglioma semapv:UnspecifiedMatching MONDO:0006291 malignant jugulotympanic paraganglioma skos:exactMatch UMLS:C0347856 semapv:UnspecifiedMatching MONDO:0006292 malignant mesothelioma skos:exactMatch DOID:1790 malignant mesothelioma semapv:UnspecifiedMatching MONDO:0006292 malignant mesothelioma skos:exactMatch NCIT:C4456 Malignant Mesothelioma semapv:UnspecifiedMatching MONDO:0006292 malignant mesothelioma skos:exactMatch OMIM:156240 mesothelioma, malignant semapv:UnspecifiedMatching MONDO:0006292 malignant mesothelioma skos:exactMatch Orphanet:50251 Pleural mesothelioma semapv:UnspecifiedMatching MONDO:0006292 malignant mesothelioma skos:exactMatch SCTID:109378008 semapv:UnspecifiedMatching MONDO:0006292 malignant mesothelioma skos:exactMatch UMLS:C0345967 semapv:UnspecifiedMatching MONDO:0006292 malignant mesothelioma skos:exactMatch mesh:C562839 semapv:UnspecifiedMatching MONDO:0006294 pleural cancer skos:exactMatch DOID:5158 pleural cancer semapv:UnspecifiedMatching MONDO:0006294 pleural cancer skos:exactMatch ICD10CM:C38.4 Malignant neoplasm of pleura semapv:UnspecifiedMatching MONDO:0006294 pleural cancer skos:exactMatch NCIT:C3547 Malignant Pleural Neoplasm semapv:UnspecifiedMatching MONDO:0006294 pleural cancer skos:exactMatch SCTID:363433009 semapv:UnspecifiedMatching MONDO:0006294 pleural cancer skos:exactMatch UMLS:C0153494 semapv:UnspecifiedMatching MONDO:0006295 malignant urinary system neoplasm skos:exactMatch DOID:3996 urinary system cancer semapv:UnspecifiedMatching MONDO:0006295 malignant urinary system neoplasm skos:exactMatch ICD10CM:C64-C68 Malignant neoplasms of urinary tract (C64-C68) semapv:UnspecifiedMatching MONDO:0006295 malignant urinary system neoplasm skos:exactMatch NCIT:C9297 Malignant Urinary System Neoplasm semapv:UnspecifiedMatching MONDO:0006295 malignant urinary system neoplasm skos:exactMatch SCTID:448233000 semapv:UnspecifiedMatching MONDO:0006297 maxillary sinus adenoid cystic carcinoma skos:exactMatch DOID:7198 maxillary sinus adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0006297 maxillary sinus adenoid cystic carcinoma skos:exactMatch NCIT:C6239 Maxillary Sinus Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006297 maxillary sinus adenoid cystic carcinoma skos:exactMatch UMLS:C1334643 semapv:UnspecifiedMatching MONDO:0006298 mediastinal malignant germ cell tumor skos:exactMatch NCIT:C6446 Malignant Mediastinal Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0006298 mediastinal malignant germ cell tumor skos:exactMatch SCTID:713293002 semapv:UnspecifiedMatching MONDO:0006298 mediastinal malignant germ cell tumor skos:exactMatch UMLS:C1334597 semapv:UnspecifiedMatching MONDO:0006300 medullomyoblastoma with myogenic differentiation skos:exactMatch DOID:3861 medullomyoblastoma semapv:UnspecifiedMatching MONDO:0006300 medullomyoblastoma with myogenic differentiation skos:exactMatch NCIT:C3706 Medullomyoblastoma semapv:UnspecifiedMatching MONDO:0006300 medullomyoblastoma with myogenic differentiation skos:exactMatch UMLS:C0205833 semapv:UnspecifiedMatching MONDO:0006301 metanephric adenoma skos:exactMatch DOID:6404 metanephric adenoma semapv:UnspecifiedMatching MONDO:0006301 metanephric adenoma skos:exactMatch NCIT:C27253 Metanephric Adenoma semapv:UnspecifiedMatching MONDO:0006301 metanephric adenoma skos:exactMatch UMLS:C1266045 semapv:UnspecifiedMatching MONDO:0006302 micropapillary serous carcinoma skos:exactMatch NCIT:C6882 Micropapillary Serous Carcinoma semapv:UnspecifiedMatching MONDO:0006303 middle ear squamous cell carcinoma skos:exactMatch DOID:5526 middle ear squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0006303 middle ear squamous cell carcinoma skos:exactMatch NCIT:C6086 Middle Ear Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006303 middle ear squamous cell carcinoma skos:exactMatch UMLS:C1334762 semapv:UnspecifiedMatching MONDO:0006304 minor salivary gland adenocarcinoma skos:exactMatch NCIT:C5948 Minor Salivary Gland Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006304 minor salivary gland adenocarcinoma skos:exactMatch UMLS:C1334768 semapv:UnspecifiedMatching MONDO:0006306 mixed lobular and ductal breast carcinoma skos:exactMatch NCIT:C5160 Breast Mixed Ductal and Lobular Carcinoma semapv:UnspecifiedMatching MONDO:0006306 mixed lobular and ductal breast carcinoma skos:exactMatch SCTID:444604002 semapv:UnspecifiedMatching MONDO:0006306 mixed lobular and ductal breast carcinoma skos:exactMatch UMLS:C5441546 semapv:UnspecifiedMatching MONDO:0006307 mixed somatotroph-lactotroph pituitary gland adenoma skos:exactMatch NCIT:C45927 Mixed Somatotroph and Lactotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0006307 mixed somatotroph-lactotroph pituitary gland adenoma skos:exactMatch UMLS:C1709052 semapv:UnspecifiedMatching MONDO:0006309 mucinous gastric adenocarcinoma skos:exactMatch DOID:3716 mucinous stomach adenocarcinoma semapv:UnspecifiedMatching MONDO:0006309 mucinous gastric adenocarcinoma skos:exactMatch NCIT:C5248 Gastric Mucinous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006309 mucinous gastric adenocarcinoma skos:exactMatch UMLS:C1334809 semapv:UnspecifiedMatching MONDO:0006311 myelodysplastic/myeloproliferative neoplasm skos:exactMatch DOID:4972 myelodysplastic/myeloproliferative neoplasm semapv:UnspecifiedMatching MONDO:0006311 myelodysplastic/myeloproliferative neoplasm skos:exactMatch NCIT:C27262 Myelodysplastic/Myeloproliferative Neoplasm semapv:UnspecifiedMatching MONDO:0006311 myelodysplastic/myeloproliferative neoplasm skos:exactMatch SCTID:445738007 semapv:UnspecifiedMatching MONDO:0006312 myofibroma skos:exactMatch DOID:4386 myofibroma semapv:UnspecifiedMatching MONDO:0006312 myofibroma skos:exactMatch NCIT:C7052 Myofibroma semapv:UnspecifiedMatching MONDO:0006312 myofibroma skos:exactMatch UMLS:C1368237 semapv:UnspecifiedMatching MONDO:0006312 myofibroma skos:exactMatch mesh:D047708 semapv:UnspecifiedMatching MONDO:0006313 nabothian cyst skos:exactMatch NCIT:C34835 Nabothian Cyst semapv:UnspecifiedMatching MONDO:0006313 nabothian cyst skos:exactMatch SCTID:24565001 semapv:UnspecifiedMatching MONDO:0006313 nabothian cyst skos:exactMatch UMLS:C0027269 semapv:UnspecifiedMatching MONDO:0006314 nasal cavity polyp skos:exactMatch NCIT:C3256 Nasal Cavity Polyp semapv:UnspecifiedMatching MONDO:0006314 nasal cavity polyp skos:exactMatch SCTID:52756005 semapv:UnspecifiedMatching MONDO:0006314 nasal cavity polyp skos:exactMatch UMLS:C0027430 semapv:UnspecifiedMatching MONDO:0006314 nasal cavity polyp skos:exactMatch mesh:D009298 semapv:UnspecifiedMatching MONDO:0006315 obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm skos:exactMatch NCIT:C37005 Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm semapv:UnspecifiedMatching MONDO:0006316 neuroblastic tumor skos:exactMatch NCIT:C6963 Neuroblastic Tumor semapv:UnspecifiedMatching MONDO:0006316 neuroblastic tumor skos:exactMatch UMLS:C1334953 semapv:UnspecifiedMatching MONDO:0006317 neurothekeoma skos:exactMatch NCIT:C7018 Nerve Sheath Myxoma semapv:UnspecifiedMatching MONDO:0006317 neurothekeoma skos:exactMatch UMLS:C0206730 semapv:UnspecifiedMatching MONDO:0006317 neurothekeoma skos:exactMatch mesh:D018321 semapv:UnspecifiedMatching MONDO:0006320 non-cutaneous melanoma skos:exactMatch NCIT:C8711 Non-Cutaneous Melanoma semapv:UnspecifiedMatching MONDO:0006320 non-cutaneous melanoma skos:exactMatch UMLS:C1334974 semapv:UnspecifiedMatching MONDO:0006321 non-functioning adrenal cortex adenoma skos:exactMatch NCIT:C48458 Non-Functioning Adrenal Cortical Adenoma semapv:UnspecifiedMatching MONDO:0006321 non-functioning adrenal cortex adenoma skos:exactMatch UMLS:C1709240 semapv:UnspecifiedMatching MONDO:0006322 non-neoplastic bile duct disorder skos:exactMatch NCIT:C35774 Non-Neoplastic Bile Duct Disorder semapv:UnspecifiedMatching MONDO:0006322 non-neoplastic bile duct disorder skos:exactMatch UMLS:C3275160 semapv:UnspecifiedMatching MONDO:0006324 normal breast-like subtype of breast carcinoma skos:exactMatch NCIT:C53557 Normal Breast-Like Subtype of Breast Carcinoma semapv:UnspecifiedMatching MONDO:0006324 normal breast-like subtype of breast carcinoma skos:exactMatch UMLS:C3642471 semapv:UnspecifiedMatching MONDO:0006325 ocular melanoma skos:exactMatch DOID:1752 ocular melanoma semapv:UnspecifiedMatching MONDO:0006325 ocular melanoma skos:exactMatch NCIT:C8562 Ocular Melanoma semapv:UnspecifiedMatching MONDO:0006326 ocular melanoma with extraocular extension skos:exactMatch NCIT:C7913 Ocular Melanoma with Extraocular Extension semapv:UnspecifiedMatching MONDO:0006326 ocular melanoma with extraocular extension skos:exactMatch UMLS:C0278869 semapv:UnspecifiedMatching MONDO:0006327 ocular sebaceous carcinoma skos:exactMatch NCIT:C43340 Eye Sebaceous Carcinoma semapv:UnspecifiedMatching MONDO:0006327 ocular sebaceous carcinoma skos:exactMatch UMLS:C1709308 semapv:UnspecifiedMatching MONDO:0006328 odontogenic cyst skos:exactMatch NCIT:C54220 Odontogenic Cyst semapv:UnspecifiedMatching MONDO:0006328 odontogenic cyst skos:exactMatch SCTID:235110008 semapv:UnspecifiedMatching MONDO:0006328 odontogenic cyst skos:exactMatch mesh:D009807 semapv:UnspecifiedMatching MONDO:0006329 olfactory neuroblastoma skos:exactMatch DOID:369 olfactory neuroblastoma semapv:UnspecifiedMatching MONDO:0006329 olfactory neuroblastoma skos:exactMatch NCIT:C3789 Olfactory Neuroblastoma semapv:UnspecifiedMatching MONDO:0006330 ossifying fibromyxoid tumor skos:exactMatch DOID:2685 ossifying fibromyxoid tumor semapv:UnspecifiedMatching MONDO:0006330 ossifying fibromyxoid tumor skos:exactMatch NCIT:C6582 Ossifying Fibromyxoid Tumor semapv:UnspecifiedMatching MONDO:0006330 ossifying fibromyxoid tumor skos:exactMatch SCTID:404076001 semapv:UnspecifiedMatching MONDO:0006330 ossifying fibromyxoid tumor skos:exactMatch UMLS:C1266128 semapv:UnspecifiedMatching MONDO:0006335 ovarian endometrioid adenocarcinoma skos:exactMatch DOID:5828 endometrioid ovary carcinoma semapv:UnspecifiedMatching MONDO:0006335 ovarian endometrioid adenocarcinoma skos:exactMatch NCIT:C7979 Ovarian Endometrioid Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006335 ovarian endometrioid adenocarcinoma skos:exactMatch Orphanet:454723 Endometrioid carcinoma of ovary semapv:UnspecifiedMatching MONDO:0006335 ovarian endometrioid adenocarcinoma skos:exactMatch SCTID:254852002 semapv:UnspecifiedMatching MONDO:0006335 ovarian endometrioid adenocarcinoma skos:exactMatch UMLS:C0346163 semapv:UnspecifiedMatching MONDO:0006336 ovarian endometrioid adenocarcinoma with squamous differentiation skos:exactMatch NCIT:C40061 Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation semapv:UnspecifiedMatching MONDO:0006337 ovarian endometriosis skos:exactMatch DOID:11432 endometriosis of ovary semapv:UnspecifiedMatching MONDO:0006337 ovarian endometriosis skos:exactMatch ICD10CM:N80.1 Endometriosis of ovary semapv:UnspecifiedMatching MONDO:0006337 ovarian endometriosis skos:exactMatch NCIT:C27628 Ovarian Endometriosis semapv:UnspecifiedMatching MONDO:0006337 ovarian endometriosis skos:exactMatch SCTID:266589005 semapv:UnspecifiedMatching MONDO:0006337 ovarian endometriosis skos:exactMatch UMLS:C0156344 semapv:UnspecifiedMatching MONDO:0006339 ovarian microcystic stromal tumor skos:exactMatch NCIT:C121953 Ovarian Microcystic Stromal Tumor semapv:UnspecifiedMatching MONDO:0006339 ovarian microcystic stromal tumor skos:exactMatch Orphanet:569248 Microcystic stromal tumor semapv:UnspecifiedMatching MONDO:0006339 ovarian microcystic stromal tumor skos:exactMatch UMLS:C4054287 semapv:UnspecifiedMatching MONDO:0006340 ovarian serous adenofibroma skos:exactMatch DOID:5474 ovarian serous adenofibroma semapv:UnspecifiedMatching MONDO:0006340 ovarian serous adenofibroma skos:exactMatch NCIT:C40031 Ovarian Serous Adenofibroma semapv:UnspecifiedMatching MONDO:0006340 ovarian serous adenofibroma skos:exactMatch UMLS:C1518729 semapv:UnspecifiedMatching MONDO:0006343 ovarian transitional cell carcinoma skos:exactMatch DOID:4000 ovary transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0006343 ovarian transitional cell carcinoma skos:exactMatch NCIT:C5240 Ovarian Transitional Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006343 ovarian transitional cell carcinoma skos:exactMatch UMLS:C1335184 semapv:UnspecifiedMatching MONDO:0006344 ovarian yolk sac tumor skos:exactMatch DOID:5350 ovarian endodermal sinus tumor semapv:UnspecifiedMatching MONDO:0006344 ovarian yolk sac tumor skos:exactMatch NCIT:C8107 Ovarian Yolk Sac Tumor semapv:UnspecifiedMatching MONDO:0006344 ovarian yolk sac tumor skos:exactMatch SCTID:254876005 semapv:UnspecifiedMatching MONDO:0006344 ovarian yolk sac tumor skos:exactMatch UMLS:C0346188 semapv:UnspecifiedMatching MONDO:0006345 palmar fibromatosis skos:exactMatch NCIT:C3469 Palmar Fibromatosis semapv:UnspecifiedMatching MONDO:0006345 palmar fibromatosis skos:exactMatch SCTID:203045001 semapv:UnspecifiedMatching MONDO:0006345 palmar fibromatosis skos:exactMatch mesh:D004387 semapv:UnspecifiedMatching MONDO:0006346 pancreatic acinar cell carcinoma skos:exactMatch DOID:5742 pancreatic acinar cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0006346 pancreatic acinar cell carcinoma skos:exactMatch NCIT:C7977 Pancreatic Acinar Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006346 pancreatic acinar cell carcinoma skos:exactMatch Orphanet:424046 Acinar cell carcinoma of pancreas semapv:UnspecifiedMatching MONDO:0006346 pancreatic acinar cell carcinoma skos:exactMatch UMLS:C0279661 semapv:UnspecifiedMatching MONDO:0006347 pancreatic large cell neuroendocrine carcinoma skos:exactMatch NCIT:C95582 Pancreatic Large Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006347 pancreatic large cell neuroendocrine carcinoma skos:exactMatch UMLS:C2987239 semapv:UnspecifiedMatching MONDO:0006348 pancreatic small cell neuroendocrine carcinoma skos:exactMatch NCIT:C95583 Pancreatic Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006348 pancreatic small cell neuroendocrine carcinoma skos:exactMatch UMLS:C2987240 semapv:UnspecifiedMatching MONDO:0006349 papillary cystic neoplasm skos:exactMatch NCIT:C4179 Papillary Cystic Neoplasm semapv:UnspecifiedMatching MONDO:0006349 papillary cystic neoplasm skos:exactMatch UMLS:C0334357 semapv:UnspecifiedMatching MONDO:0006350 papillary transitional cell carcinoma skos:exactMatch DOID:4012 papillary transitional carcinoma semapv:UnspecifiedMatching MONDO:0006350 papillary transitional cell carcinoma skos:exactMatch NCIT:C4122 Papillary Transitional Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006350 papillary transitional cell carcinoma skos:exactMatch UMLS:C0334274 semapv:UnspecifiedMatching MONDO:0006351 parachordoma skos:exactMatch DOID:2647 parachordoma semapv:UnspecifiedMatching MONDO:0006351 parachordoma skos:exactMatch NCIT:C6581 Parachordoma semapv:UnspecifiedMatching MONDO:0006351 parachordoma skos:exactMatch SCTID:404086000 semapv:UnspecifiedMatching MONDO:0006351 parachordoma skos:exactMatch UMLS:C1266175 semapv:UnspecifiedMatching MONDO:0006352 paranasal sinus adenoid cystic carcinoma skos:exactMatch NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006352 paranasal sinus adenoid cystic carcinoma skos:exactMatch UMLS:C1335337 semapv:UnspecifiedMatching MONDO:0006353 paranasal sinus Schneiderian papilloma skos:exactMatch NCIT:C6835 Paranasal Sinus Papilloma semapv:UnspecifiedMatching MONDO:0006353 paranasal sinus Schneiderian papilloma skos:exactMatch UMLS:C1335343 semapv:UnspecifiedMatching MONDO:0006354 parathyroid hyperplasia skos:exactMatch NCIT:C3989 Parathyroid Gland Hyperplasia semapv:UnspecifiedMatching MONDO:0006354 parathyroid hyperplasia skos:exactMatch SCTID:9092004 semapv:UnspecifiedMatching MONDO:0006354 parathyroid hyperplasia skos:exactMatch UMLS:C0271844 semapv:UnspecifiedMatching MONDO:0006355 parotid gland acinic cell carcinoma skos:exactMatch NCIT:C5933 Parotid Gland Acinic Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006355 parotid gland acinic cell carcinoma skos:exactMatch UMLS:C1335353 semapv:UnspecifiedMatching MONDO:0006356 parotid gland adenoid cystic carcinoma skos:exactMatch DOID:0050931 parotid gland adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0006356 parotid gland adenoid cystic carcinoma skos:exactMatch NCIT:C5937 Parotid Gland Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006356 parotid gland adenoid cystic carcinoma skos:exactMatch SCTID:423615009 semapv:UnspecifiedMatching MONDO:0006356 parotid gland adenoid cystic carcinoma skos:exactMatch UMLS:C1335355 semapv:UnspecifiedMatching MONDO:0006357 parotid gland carcinoma ex pleomorphic adenoma skos:exactMatch NCIT:C5974 Parotid Gland Carcinoma ex Pleomorphic Adenoma semapv:UnspecifiedMatching MONDO:0006357 parotid gland carcinoma ex pleomorphic adenoma skos:exactMatch SCTID:425127006 semapv:UnspecifiedMatching MONDO:0006357 parotid gland carcinoma ex pleomorphic adenoma skos:exactMatch UMLS:C1335356 semapv:UnspecifiedMatching MONDO:0006358 parotid gland squamous cell carcinoma skos:exactMatch NCIT:C5942 Parotid Gland Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006358 parotid gland squamous cell carcinoma skos:exactMatch UMLS:C1335367 semapv:UnspecifiedMatching MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation skos:exactMatch DOID:2643 perivascular epithelioid cell tumor semapv:UnspecifiedMatching MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation skos:exactMatch NCIT:C38150 PEComa semapv:UnspecifiedMatching MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation skos:exactMatch Orphanet:595133 Perivascular epithelioid cell neoplasm semapv:UnspecifiedMatching MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation skos:exactMatch UMLS:C1300127 semapv:UnspecifiedMatching MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation skos:exactMatch mesh:D054973 semapv:UnspecifiedMatching MONDO:0006360 penile carcinoma skos:exactMatch DOID:3449 penis carcinoma semapv:UnspecifiedMatching MONDO:0006360 penile carcinoma skos:exactMatch NCIT:C9061 Penile Carcinoma semapv:UnspecifiedMatching MONDO:0006360 penile carcinoma skos:exactMatch SCTID:372106005 semapv:UnspecifiedMatching MONDO:0006361 penile fibromatosis skos:exactMatch NCIT:C3316 Penile Fibromatosis semapv:UnspecifiedMatching MONDO:0006362 peritoneal mesothelioma skos:exactMatch NCIT:C7633 Peritoneal Mesothelial Neoplasm semapv:UnspecifiedMatching MONDO:0006362 peritoneal mesothelioma skos:exactMatch SCTID:109853004 semapv:UnspecifiedMatching MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch NCIT:C6536 Peritoneal Multicystic Mesothelioma semapv:UnspecifiedMatching MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch Orphanet:168816 Peritoneal cystic mesothelioma semapv:UnspecifiedMatching MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch SCTID:716650003 semapv:UnspecifiedMatching MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch UMLS:C1334818 semapv:UnspecifiedMatching MONDO:0006364 peritoneal well differentiated papillary mesothelioma skos:exactMatch NCIT:C45661 Peritoneal Well Differentiated Papillary Mesothelial Tumor semapv:UnspecifiedMatching MONDO:0006364 peritoneal well differentiated papillary mesothelioma skos:exactMatch UMLS:C1709507 semapv:UnspecifiedMatching MONDO:0006365 Peutz-Jeghers polyp skos:exactMatch NCIT:C4733 Peutz-Jeghers Polyp semapv:UnspecifiedMatching MONDO:0006366 Peutz-Jeghers polyp of the stomach skos:exactMatch NCIT:C36205 Peutz-Jeghers Polyp of the Stomach semapv:UnspecifiedMatching MONDO:0006366 Peutz-Jeghers polyp of the stomach skos:exactMatch UMLS:C1335398 semapv:UnspecifiedMatching MONDO:0006367 pharyngeal adenoid cystic carcinoma skos:exactMatch NCIT:C5818 Pharyngeal Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006367 pharyngeal adenoid cystic carcinoma skos:exactMatch UMLS:C1335399 semapv:UnspecifiedMatching MONDO:0006368 phosphaturic mesenchymal tumor skos:exactMatch NCIT:C67237 Phosphaturic Mesenchymal Tumor semapv:UnspecifiedMatching MONDO:0006368 phosphaturic mesenchymal tumor skos:exactMatch UMLS:C1831619 semapv:UnspecifiedMatching MONDO:0006369 pineal parenchymal tumor of intermediate differentiation skos:exactMatch DOID:5030 pineal parenchymal tumor of intermediate differentiation semapv:UnspecifiedMatching MONDO:0006369 pineal parenchymal tumor of intermediate differentiation skos:exactMatch NCIT:C6967 Pineal Parenchymal Tumor of Intermediate Differentiation semapv:UnspecifiedMatching MONDO:0006369 pineal parenchymal tumor of intermediate differentiation skos:exactMatch Orphanet:251919 Pineal parenchymal tumor of intermediate differentiation semapv:UnspecifiedMatching MONDO:0006369 pineal parenchymal tumor of intermediate differentiation skos:exactMatch SCTID:715904005 semapv:UnspecifiedMatching MONDO:0006369 pineal parenchymal tumor of intermediate differentiation skos:exactMatch UMLS:C1367859 semapv:UnspecifiedMatching MONDO:0006369 pineal parenchymal tumor of intermediate differentiation skos:exactMatch UMLS:CN201973 semapv:UnspecifiedMatching MONDO:0006372 pituicytoma skos:exactMatch DOID:0081280 pituicytoma semapv:UnspecifiedMatching MONDO:0006372 pituicytoma skos:exactMatch NCIT:C94524 Pituicytoma semapv:UnspecifiedMatching MONDO:0006372 pituicytoma skos:exactMatch Orphanet:251623 Pituicytoma semapv:UnspecifiedMatching MONDO:0006372 pituicytoma skos:exactMatch SCTID:608817003 semapv:UnspecifiedMatching MONDO:0006372 pituicytoma skos:exactMatch UMLS:C2986550 semapv:UnspecifiedMatching MONDO:0006373 pituitary gland adenoma skos:exactMatch DOID:3829 pituitary adenoma semapv:UnspecifiedMatching MONDO:0006373 pituitary gland adenoma skos:exactMatch NCIT:C3329 Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0006373 pituitary gland adenoma skos:exactMatch Orphanet:99408 Pituitary adenoma semapv:UnspecifiedMatching MONDO:0006373 pituitary gland adenoma skos:exactMatch SCTID:254956000 semapv:UnspecifiedMatching MONDO:0006373 pituitary gland adenoma skos:exactMatch UMLS:C0032000 semapv:UnspecifiedMatching MONDO:0006374 placental choriocarcinoma skos:exactMatch DOID:2024 placental choriocarcinoma semapv:UnspecifiedMatching MONDO:0006374 placental choriocarcinoma skos:exactMatch NCIT:C8893 Placental Choriocarcinoma semapv:UnspecifiedMatching MONDO:0006374 placental choriocarcinoma skos:exactMatch SCTID:448401007 semapv:UnspecifiedMatching MONDO:0006374 placental choriocarcinoma skos:exactMatch UMLS:C0855173 semapv:UnspecifiedMatching MONDO:0006375 placental hemangioma skos:exactMatch DOID:277 chorioangioma semapv:UnspecifiedMatching MONDO:0006375 placental hemangioma skos:exactMatch NCIT:C4868 Placental Hemangioma semapv:UnspecifiedMatching MONDO:0006375 placental hemangioma skos:exactMatch SCTID:237268002 semapv:UnspecifiedMatching MONDO:0006375 placental hemangioma skos:exactMatch UMLS:C0677608 semapv:UnspecifiedMatching MONDO:0006377 pleural biphasic mesothelioma skos:exactMatch NCIT:C45665 Pleural Biphasic Mesothelioma semapv:UnspecifiedMatching MONDO:0006377 pleural biphasic mesothelioma skos:exactMatch UMLS:C1709570 semapv:UnspecifiedMatching MONDO:0006378 pleural epithelioid mesothelioma skos:exactMatch NCIT:C45662 Pleural Epithelioid Mesothelioma semapv:UnspecifiedMatching MONDO:0006378 pleural epithelioid mesothelioma skos:exactMatch UMLS:C1709574 semapv:UnspecifiedMatching MONDO:0006380 pleural sarcomatoid mesothelioma skos:exactMatch NCIT:C45663 Pleural Sarcomatoid Mesothelioma semapv:UnspecifiedMatching MONDO:0006380 pleural sarcomatoid mesothelioma skos:exactMatch UMLS:C1709578 semapv:UnspecifiedMatching MONDO:0006381 plexiform ameloblastoma skos:exactMatch NCIT:C39753 Plexiform Ameloblastoma semapv:UnspecifiedMatching MONDO:0006381 plexiform ameloblastoma skos:exactMatch UMLS:C0457529 semapv:UnspecifiedMatching MONDO:0006382 poorly differentiated thyroid gland carcinoma skos:exactMatch NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma semapv:UnspecifiedMatching MONDO:0006382 poorly differentiated thyroid gland carcinoma skos:exactMatch UMLS:C1266050 semapv:UnspecifiedMatching MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type skos:exactMatch NCIT:C45194 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type semapv:UnspecifiedMatching MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type skos:exactMatch Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type semapv:UnspecifiedMatching MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type skos:exactMatch UMLS:C1709656 semapv:UnspecifiedMatching MONDO:0006385 primary intraosseous squamous cell carcinoma skos:exactMatch NCIT:C54295 Primary Intraosseous Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006385 primary intraosseous squamous cell carcinoma skos:exactMatch UMLS:C1709663 semapv:UnspecifiedMatching MONDO:0006386 primary peritoneal serous adenocarcinoma skos:exactMatch NCIT:C40023 Primary Peritoneal Serous Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006386 primary peritoneal serous adenocarcinoma skos:exactMatch UMLS:C1514429 semapv:UnspecifiedMatching MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma skos:exactMatch NCIT:C45605 Lung Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma skos:exactMatch UMLS:C2200138 semapv:UnspecifiedMatching MONDO:0006388 prolactin-producing pituitary gland carcinoma skos:exactMatch NCIT:C5962 Metastatic Lactotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0006388 prolactin-producing pituitary gland carcinoma skos:exactMatch UMLS:C1334614 semapv:UnspecifiedMatching MONDO:0006389 prostate rhabdomyosarcoma skos:exactMatch DOID:3252 prostate rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0006389 prostate rhabdomyosarcoma skos:exactMatch NCIT:C5522 Prostate Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0006389 prostate rhabdomyosarcoma skos:exactMatch UMLS:C1335518 semapv:UnspecifiedMatching MONDO:0006390 prostate small cell carcinoma skos:exactMatch DOID:7141 prostate small cell carcinoma semapv:UnspecifiedMatching MONDO:0006390 prostate small cell carcinoma skos:exactMatch NCIT:C6766 Prostate Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006390 prostate small cell carcinoma skos:exactMatch SCTID:396198006 semapv:UnspecifiedMatching MONDO:0006390 prostate small cell carcinoma skos:exactMatch UMLS:C1300585 semapv:UnspecifiedMatching MONDO:0006391 pyloric gland adenoma skos:exactMatch NCIT:C43526 Gastric Pyloric Gland Adenoma semapv:UnspecifiedMatching MONDO:0006392 rectal hyperplastic polyp skos:exactMatch NCIT:C5619 Rectal Hyperplastic Polyp semapv:UnspecifiedMatching MONDO:0006392 rectal hyperplastic polyp skos:exactMatch UMLS:C1335679 semapv:UnspecifiedMatching MONDO:0006393 rectal traditional serrated adenoma skos:exactMatch NCIT:C96463 Rectal Traditional Serrated Adenoma semapv:UnspecifiedMatching MONDO:0006393 rectal traditional serrated adenoma skos:exactMatch UMLS:C3272790 semapv:UnspecifiedMatching MONDO:0006394 rectal tubular adenoma skos:exactMatch NCIT:C96477 Rectal Tubular Adenoma semapv:UnspecifiedMatching MONDO:0006394 rectal tubular adenoma skos:exactMatch UMLS:C3272804 semapv:UnspecifiedMatching MONDO:0006395 rectal tubulovillous adenoma skos:exactMatch NCIT:C5620 Rectal Tubulovillous Adenoma semapv:UnspecifiedMatching MONDO:0006395 rectal tubulovillous adenoma skos:exactMatch SCTID:448428002 semapv:UnspecifiedMatching MONDO:0006395 rectal tubulovillous adenoma skos:exactMatch UMLS:C1335691 semapv:UnspecifiedMatching MONDO:0006396 rectal villous adenoma skos:exactMatch NCIT:C4919 Rectal Villous Adenoma semapv:UnspecifiedMatching MONDO:0006396 rectal villous adenoma skos:exactMatch SCTID:312823001 semapv:UnspecifiedMatching MONDO:0006396 rectal villous adenoma skos:exactMatch UMLS:C0730199 semapv:UnspecifiedMatching MONDO:0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions skos:exactMatch NCIT:C27891 TFE3-Rearranged Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions skos:exactMatch UMLS:C1337036 semapv:UnspecifiedMatching MONDO:0006398 retroperitoneal inflammatory myofibroblastic tumor skos:exactMatch NCIT:C39741 Retroperitoneal Inflammatory Myofibroblastic Tumor semapv:UnspecifiedMatching MONDO:0006398 retroperitoneal inflammatory myofibroblastic tumor skos:exactMatch UMLS:C1514921 semapv:UnspecifiedMatching MONDO:0006400 salivary gland acinic cell carcinoma skos:exactMatch NCIT:C8013 Salivary Gland Acinic Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006400 salivary gland acinic cell carcinoma skos:exactMatch UMLS:C0279738 semapv:UnspecifiedMatching MONDO:0006401 salivary gland adenosquamous carcinoma skos:exactMatch NCIT:C35737 Salivary Gland Adenosquamous Carcinoma semapv:UnspecifiedMatching MONDO:0006401 salivary gland adenosquamous carcinoma skos:exactMatch UMLS:C1335894 semapv:UnspecifiedMatching MONDO:0006402 salivary gland basal cell adenocarcinoma skos:exactMatch NCIT:C3678 Salivary Gland Basal Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006403 salivary gland carcinoma ex pleomorphic adenoma skos:exactMatch DOID:297 pleomorphic adenoma carcinoma semapv:UnspecifiedMatching MONDO:0006403 salivary gland carcinoma ex pleomorphic adenoma skos:exactMatch NCIT:C40410 Salivary Gland Carcinoma ex Pleomorphic Adenoma semapv:UnspecifiedMatching MONDO:0006403 salivary gland carcinoma ex pleomorphic adenoma skos:exactMatch UMLS:C1519172 semapv:UnspecifiedMatching MONDO:0006404 salivary gland large cell carcinoma skos:exactMatch NCIT:C35735 Salivary Gland Large Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006404 salivary gland large cell carcinoma skos:exactMatch UMLS:C2111671 semapv:UnspecifiedMatching MONDO:0006405 salivary gland small cell carcinoma skos:exactMatch NCIT:C35703 Salivary Gland Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006405 salivary gland small cell carcinoma skos:exactMatch UMLS:C1335982 semapv:UnspecifiedMatching MONDO:0006406 sarcomatoid carcinoma skos:exactMatch DOID:4015 sarcomatoid carcinoma semapv:UnspecifiedMatching MONDO:0006406 sarcomatoid carcinoma skos:exactMatch NCIT:C27004 Sarcomatoid Carcinoma semapv:UnspecifiedMatching MONDO:0006406 sarcomatoid carcinoma skos:exactMatch UMLS:C0205697 semapv:UnspecifiedMatching MONDO:0006407 sarcomatoid mesothelioma skos:exactMatch DOID:4488 sarcomatoid mesothelioma semapv:UnspecifiedMatching MONDO:0006407 sarcomatoid mesothelioma skos:exactMatch NCIT:C45655 Sarcomatoid Mesothelioma semapv:UnspecifiedMatching MONDO:0006407 sarcomatoid mesothelioma skos:exactMatch UMLS:C0334513 semapv:UnspecifiedMatching MONDO:0006408 sex hormone-producing adrenal cortex adenoma skos:exactMatch NCIT:C48452 Sex Hormone-Producing Adrenal Cortical Adenoma semapv:UnspecifiedMatching MONDO:0006408 sex hormone-producing adrenal cortex adenoma skos:exactMatch UMLS:C1710067 semapv:UnspecifiedMatching MONDO:0006409 signet ring cell gastric adenocarcinoma skos:exactMatch DOID:8025 gastric signet ring cell adenocarcinoma semapv:UnspecifiedMatching MONDO:0006409 signet ring cell gastric adenocarcinoma skos:exactMatch NCIT:C5250 Gastric Signet Ring Cell Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006409 signet ring cell gastric adenocarcinoma skos:exactMatch UMLS:C1335965 semapv:UnspecifiedMatching MONDO:0006410 simple endometrial hyperplasia skos:exactMatch NCIT:C35463 Simple Endometrial Hyperplasia semapv:UnspecifiedMatching MONDO:0006410 simple endometrial hyperplasia skos:exactMatch SCTID:198324001 semapv:UnspecifiedMatching MONDO:0006410 simple endometrial hyperplasia skos:exactMatch UMLS:C0456483 semapv:UnspecifiedMatching MONDO:0006411 sinonasal undifferentiated carcinoma skos:exactMatch DOID:0080799 sinonasal undifferentiated carcinoma semapv:UnspecifiedMatching MONDO:0006411 sinonasal undifferentiated carcinoma skos:exactMatch NCIT:C54294 Sinonasal Undifferentiated Carcinoma semapv:UnspecifiedMatching MONDO:0006411 sinonasal undifferentiated carcinoma skos:exactMatch SCTID:697993003 semapv:UnspecifiedMatching MONDO:0006411 sinonasal undifferentiated carcinoma skos:exactMatch UMLS:C1710096 semapv:UnspecifiedMatching MONDO:0006411 sinonasal undifferentiated carcinoma skos:exactMatch mesh:C537344 semapv:UnspecifiedMatching MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch NCIT:C36075 Rosai-Dorfman-Destombes Disease semapv:UnspecifiedMatching MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch Orphanet:158014 Rosaï-Dorfman disease semapv:UnspecifiedMatching MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch SCTID:34287003 semapv:UnspecifiedMatching MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch mesh:D015618 semapv:UnspecifiedMatching MONDO:0006414 skin sarcoma skos:exactMatch DOID:2687 skin sarcoma semapv:UnspecifiedMatching MONDO:0006414 skin sarcoma skos:exactMatch NCIT:C5585 Skin Sarcoma semapv:UnspecifiedMatching MONDO:0006414 skin sarcoma skos:exactMatch UMLS:C0856900 semapv:UnspecifiedMatching MONDO:0006416 small intestinal Burkitt lymphoma skos:exactMatch NCIT:C27409 Small Intestinal Burkitt Lymphoma semapv:UnspecifiedMatching MONDO:0006416 small intestinal Burkitt lymphoma skos:exactMatch UMLS:C1335991 semapv:UnspecifiedMatching MONDO:0006417 small intestinal diffuse large B-cell lymphoma skos:exactMatch NCIT:C96055 Small Intestinal Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006417 small intestinal diffuse large B-cell lymphoma skos:exactMatch UMLS:C3272522 semapv:UnspecifiedMatching MONDO:0006418 small intestinal enteropathy-associated T-cell lymphoma skos:exactMatch NCIT:C39610 Small Intestinal Enteropathy-Associated T-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006418 small intestinal enteropathy-associated T-cell lymphoma skos:exactMatch UMLS:C1519371 semapv:UnspecifiedMatching MONDO:0006419 small intestinal intraepithelial neoplasia skos:exactMatch NCIT:C27462 Small Intestinal Intraepithelial Neoplasia semapv:UnspecifiedMatching MONDO:0006419 small intestinal intraepithelial neoplasia skos:exactMatch UMLS:C1335999 semapv:UnspecifiedMatching MONDO:0006420 small intestinal mucosa-associated lymphoid tissue lymphoma skos:exactMatch NCIT:C5635 Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma semapv:UnspecifiedMatching MONDO:0006420 small intestinal mucosa-associated lymphoid tissue lymphoma skos:exactMatch UMLS:C1336004 semapv:UnspecifiedMatching MONDO:0006421 small intestinal tubular adenoma skos:exactMatch NCIT:C43552 Small Intestinal Tubular Adenoma semapv:UnspecifiedMatching MONDO:0006421 small intestinal tubular adenoma skos:exactMatch UMLS:C1710112 semapv:UnspecifiedMatching MONDO:0006422 small intestinal tubulovillous adenoma skos:exactMatch NCIT:C43553 Small Intestinal Tubulovillous Adenoma semapv:UnspecifiedMatching MONDO:0006422 small intestinal tubulovillous adenoma skos:exactMatch UMLS:C1710113 semapv:UnspecifiedMatching MONDO:0006423 soft tissue chondroma skos:exactMatch DOID:3814 soft tissue chondroma semapv:UnspecifiedMatching MONDO:0006423 soft tissue chondroma skos:exactMatch NCIT:C9482 Soft Tissue Chondroma semapv:UnspecifiedMatching MONDO:0006423 soft tissue chondroma skos:exactMatch SCTID:404078000 semapv:UnspecifiedMatching MONDO:0006423 soft tissue chondroma skos:exactMatch UMLS:C1275277 semapv:UnspecifiedMatching MONDO:0006424 soft tissue neoplasm skos:exactMatch NCIT:C3377 Soft Tissue Neoplasm semapv:UnspecifiedMatching MONDO:0006424 soft tissue neoplasm skos:exactMatch SCTID:387837005 semapv:UnspecifiedMatching MONDO:0006426 spinal cord primitive neuroectodermal tumor skos:exactMatch DOID:6872 spinal cord primitive neuroectodermal neoplasm semapv:UnspecifiedMatching MONDO:0006426 spinal cord primitive neuroectodermal tumor skos:exactMatch NCIT:C5406 Spinal Cord Embryonal Tumor, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0006426 spinal cord primitive neuroectodermal tumor skos:exactMatch UMLS:C1336048 semapv:UnspecifiedMatching MONDO:0006427 spindle cell melanoma skos:exactMatch DOID:3162 malignant spindle cell melanoma semapv:UnspecifiedMatching MONDO:0006427 spindle cell melanoma skos:exactMatch NCIT:C4237 Spindle Cell Melanoma semapv:UnspecifiedMatching MONDO:0006427 spindle cell melanoma skos:exactMatch SCTID:403923002 semapv:UnspecifiedMatching MONDO:0006427 spindle cell melanoma skos:exactMatch UMLS:C0334444 semapv:UnspecifiedMatching MONDO:0006428 splenic diffuse large B-cell lymphoma skos:exactMatch NCIT:C7308 Splenic Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006428 splenic diffuse large B-cell lymphoma skos:exactMatch UMLS:C2018774 semapv:UnspecifiedMatching MONDO:0006429 splenic hodgkin lymphoma skos:exactMatch NCIT:C7295 Splenic Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0006429 splenic hodgkin lymphoma skos:exactMatch SCTID:93527005 semapv:UnspecifiedMatching MONDO:0006429 splenic hodgkin lymphoma skos:exactMatch UMLS:C0153791 semapv:UnspecifiedMatching MONDO:0006430 splenic mantle cell lymphoma skos:exactMatch NCIT:C7306 Splenic Mantle Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006430 splenic mantle cell lymphoma skos:exactMatch UMLS:C2018777 semapv:UnspecifiedMatching MONDO:0006432 stromal predominant kidney Wilms tumor skos:exactMatch DOID:5191 stromal predominant kidney Wilms' tumor semapv:UnspecifiedMatching MONDO:0006432 stromal predominant kidney Wilms tumor skos:exactMatch NCIT:C9148 Stromal Predominant Kidney Wilms Tumor semapv:UnspecifiedMatching MONDO:0006432 stromal predominant kidney Wilms tumor skos:exactMatch UMLS:C0279610 semapv:UnspecifiedMatching MONDO:0006435 submandibular gland adenocarcinoma skos:exactMatch NCIT:C5940 Submandibular Gland Adenocarcinoma semapv:UnspecifiedMatching MONDO:0006435 submandibular gland adenocarcinoma skos:exactMatch UMLS:C1336521 semapv:UnspecifiedMatching MONDO:0006436 submandibular gland adenoid cystic carcinoma skos:exactMatch NCIT:C5935 Submandibular Gland Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006436 submandibular gland adenoid cystic carcinoma skos:exactMatch SCTID:423189008 semapv:UnspecifiedMatching MONDO:0006436 submandibular gland adenoid cystic carcinoma skos:exactMatch UMLS:C1336522 semapv:UnspecifiedMatching MONDO:0006438 synovial chondromatosis skos:exactMatch NCIT:C34467 Synovial Chondromatosis semapv:UnspecifiedMatching MONDO:0006438 synovial chondromatosis skos:exactMatch UMLS:C0008476 semapv:UnspecifiedMatching MONDO:0006438 synovial chondromatosis skos:exactMatch mesh:D015838 semapv:UnspecifiedMatching MONDO:0006442 tendon sheath fibroma skos:exactMatch NCIT:C6485 Tendon Sheath Fibroma semapv:UnspecifiedMatching MONDO:0006442 tendon sheath fibroma skos:exactMatch SCTID:403992002 semapv:UnspecifiedMatching MONDO:0006442 tendon sheath fibroma skos:exactMatch UMLS:C1275236 semapv:UnspecifiedMatching MONDO:0006444 teratoma with malignant transformation skos:exactMatch DOID:0081246 teratoma with somatic-type malignancy semapv:UnspecifiedMatching MONDO:0006444 teratoma with malignant transformation skos:exactMatch NCIT:C4289 Teratoma with Somatic-Type Malignancy semapv:UnspecifiedMatching MONDO:0006444 teratoma with malignant transformation skos:exactMatch UMLS:C0334523 semapv:UnspecifiedMatching MONDO:0006446 testicular embryonal carcinoma skos:exactMatch DOID:5680 embryonal testis carcinoma semapv:UnspecifiedMatching MONDO:0006446 testicular embryonal carcinoma skos:exactMatch NCIT:C6341 Testicular Embryonal Carcinoma semapv:UnspecifiedMatching MONDO:0006446 testicular embryonal carcinoma skos:exactMatch UMLS:C0238448 semapv:UnspecifiedMatching MONDO:0006447 testicular non-seminomatous germ cell tumor skos:exactMatch DOID:4086 testicular germ cell tumor non-seminomatous semapv:UnspecifiedMatching MONDO:0006447 testicular non-seminomatous germ cell tumor skos:exactMatch NCIT:C9313 Testicular Non-Seminomatous Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0006447 testicular non-seminomatous germ cell tumor skos:exactMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:UnspecifiedMatching MONDO:0006447 testicular non-seminomatous germ cell tumor skos:exactMatch UMLS:C2057625 semapv:UnspecifiedMatching MONDO:0006450 therapy-related myeloid neoplasm skos:exactMatch NCIT:C27912 Myeloid Neoplasm Post Cytotoxic Therapy semapv:UnspecifiedMatching MONDO:0006451 thymic carcinoma skos:exactMatch DOID:3284 thymic carcinoma semapv:UnspecifiedMatching MONDO:0006451 thymic carcinoma skos:exactMatch DOID:4554 type C thymoma semapv:UnspecifiedMatching MONDO:0006451 thymic carcinoma skos:exactMatch NCIT:C7569 Thymic Carcinoma semapv:UnspecifiedMatching MONDO:0006451 thymic carcinoma skos:exactMatch Orphanet:99868 Thymic carcinoma semapv:UnspecifiedMatching MONDO:0006451 thymic carcinoma skos:exactMatch SCTID:444374006 semapv:UnspecifiedMatching MONDO:0006451 thymic carcinoma skos:exactMatch UMLS:C0205969 semapv:UnspecifiedMatching MONDO:0006452 thymic sarcomatoid carcinoma skos:exactMatch DOID:8138 thymus sarcomatoid carcinoma semapv:UnspecifiedMatching MONDO:0006452 thymic sarcomatoid carcinoma skos:exactMatch NCIT:C6463 Thymic Sarcomatoid Carcinoma semapv:UnspecifiedMatching MONDO:0006452 thymic sarcomatoid carcinoma skos:exactMatch UMLS:C1335924 semapv:UnspecifiedMatching MONDO:0006455 thymic undifferentiated carcinoma skos:exactMatch NCIT:C35718 Thymic Undifferentiated Carcinoma semapv:UnspecifiedMatching MONDO:0006455 thymic undifferentiated carcinoma skos:exactMatch UMLS:C1336865 semapv:UnspecifiedMatching MONDO:0006456 thymoma skos:exactMatch DOID:3275 thymoma semapv:UnspecifiedMatching MONDO:0006456 thymoma skos:exactMatch NCIT:C3411 Thymoma semapv:UnspecifiedMatching MONDO:0006456 thymoma skos:exactMatch Orphanet:99867 Thymoma semapv:UnspecifiedMatching MONDO:0006456 thymoma skos:exactMatch SCTID:444231005 semapv:UnspecifiedMatching MONDO:0006456 thymoma skos:exactMatch UMLS:C0040100 semapv:UnspecifiedMatching MONDO:0006456 thymoma skos:exactMatch mesh:D013945 semapv:UnspecifiedMatching MONDO:0006458 thymoma type B3 skos:exactMatch DOID:7926 epithelial malignant thymoma semapv:UnspecifiedMatching MONDO:0006458 thymoma type B3 skos:exactMatch NCIT:C7997 Thymoma Type B3 semapv:UnspecifiedMatching MONDO:0006458 thymoma type B3 skos:exactMatch UMLS:C0279705 semapv:UnspecifiedMatching MONDO:0006459 thymoma type B1 skos:exactMatch DOID:6917 predominantly cortical thymoma semapv:UnspecifiedMatching MONDO:0006459 thymoma type B1 skos:exactMatch NCIT:C6887 Thymoma Type B1 semapv:UnspecifiedMatching MONDO:0006459 thymoma type B1 skos:exactMatch UMLS:C1266094 semapv:UnspecifiedMatching MONDO:0006460 thyroglossal duct cyst skos:exactMatch SCTID:39462005 semapv:UnspecifiedMatching MONDO:0006460 thyroglossal duct cyst skos:exactMatch mesh:D013955 semapv:UnspecifiedMatching MONDO:0006462 thyroid gland diffuse large B-cell lymphoma skos:exactMatch NCIT:C6046 Thyroid Gland Diffuse Large B-Cell Lymphoma semapv:UnspecifiedMatching MONDO:0006462 thyroid gland diffuse large B-cell lymphoma skos:exactMatch UMLS:C1336749 semapv:UnspecifiedMatching MONDO:0006463 thyroid gland mucoepidermoid carcinoma skos:exactMatch DOID:4687 thyroid gland mucoepidermoid carcinoma semapv:UnspecifiedMatching MONDO:0006463 thyroid gland mucoepidermoid carcinoma skos:exactMatch NCIT:C38762 Thyroid Gland Mucoepidermoid Carcinoma semapv:UnspecifiedMatching MONDO:0006463 thyroid gland mucoepidermoid carcinoma skos:exactMatch UMLS:C1513721 semapv:UnspecifiedMatching MONDO:0006464 thyroid gland mucosa-associated lymphoid tissue lymphoma skos:exactMatch NCIT:C7601 Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma semapv:UnspecifiedMatching MONDO:0006464 thyroid gland mucosa-associated lymphoid tissue lymphoma skos:exactMatch UMLS:C1336754 semapv:UnspecifiedMatching MONDO:0006465 thyroid gland oncocytic follicular carcinoma skos:exactMatch NCIT:C4946 Thyroid Gland Oncocytic Carcinoma semapv:UnspecifiedMatching MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation skos:exactMatch DOID:0050923 spindle epithelial tumor with thymus-like differentiation tumor semapv:UnspecifiedMatching MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation skos:exactMatch NCIT:C46105 Thyroid Gland Spindle Epithelial Tumor with Thymus-Like Elements semapv:UnspecifiedMatching MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation skos:exactMatch UMLS:C1266099 semapv:UnspecifiedMatching MONDO:0006467 thyroid gland squamous cell carcinoma skos:exactMatch NCIT:C46008 Thyroid Gland Anaplastic Carcinoma, Squamous Cell Carcinoma Pattern semapv:UnspecifiedMatching MONDO:0006467 thyroid gland squamous cell carcinoma skos:exactMatch UMLS:C1710177 semapv:UnspecifiedMatching MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:exactMatch DOID:0080522 thyroid gland anaplastic carcinoma semapv:UnspecifiedMatching MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:exactMatch NCIT:C3878 Thyroid Gland Anaplastic Carcinoma semapv:UnspecifiedMatching MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:exactMatch Orphanet:142 Anaplastic thyroid carcinoma semapv:UnspecifiedMatching MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:exactMatch SCTID:255031003 semapv:UnspecifiedMatching MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:exactMatch UMLS:C0238461 semapv:UnspecifiedMatching MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:exactMatch mesh:D065646 semapv:UnspecifiedMatching MONDO:0006469 tibial adamantinoma skos:exactMatch DOID:6322 tibial adamantinoma semapv:UnspecifiedMatching MONDO:0006469 tibial adamantinoma skos:exactMatch NCIT:C8461 Tibial Adamantinoma semapv:UnspecifiedMatching MONDO:0006469 tibial adamantinoma skos:exactMatch SCTID:281702006 semapv:UnspecifiedMatching MONDO:0006469 tibial adamantinoma skos:exactMatch UMLS:C1273017 semapv:UnspecifiedMatching MONDO:0006470 tonsillar squamous cell carcinoma skos:exactMatch NCIT:C8183 Tonsillar Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006470 tonsillar squamous cell carcinoma skos:exactMatch UMLS:C0280317 semapv:UnspecifiedMatching MONDO:0006471 tracheal adenoid cystic carcinoma skos:exactMatch DOID:4875 trachea adenoid cystic carcinoma semapv:UnspecifiedMatching MONDO:0006471 tracheal adenoid cystic carcinoma skos:exactMatch NCIT:C6051 Tracheal Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006471 tracheal adenoid cystic carcinoma skos:exactMatch SCTID:254619006 semapv:UnspecifiedMatching MONDO:0006471 tracheal adenoid cystic carcinoma skos:exactMatch UMLS:C0345945 semapv:UnspecifiedMatching MONDO:0006474 transitional cell carcinoma skos:exactMatch DOID:2671 transitional cell carcinoma semapv:UnspecifiedMatching MONDO:0006474 transitional cell carcinoma skos:exactMatch NCIT:C2930 Transitional Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006474 transitional cell carcinoma skos:exactMatch UMLS:C0007138 semapv:UnspecifiedMatching MONDO:0006474 transitional cell carcinoma skos:exactMatch mesh:D002295 semapv:UnspecifiedMatching MONDO:0006475 obsolete unclassified renal cell carcinoma skos:exactMatch NCIT:C27892 Unclassified Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006475 obsolete unclassified renal cell carcinoma skos:exactMatch UMLS:C1336853 semapv:UnspecifiedMatching MONDO:0006476 undifferentiated gallbladder carcinoma skos:exactMatch NCIT:C9167 Gallbladder Undifferentiated Carcinoma semapv:UnspecifiedMatching MONDO:0006476 undifferentiated gallbladder carcinoma skos:exactMatch UMLS:C0279653 semapv:UnspecifiedMatching MONDO:0006477 undifferentiated ovarian carcinoma skos:exactMatch NCIT:C4509 Ovarian Undifferentiated Carcinoma semapv:UnspecifiedMatching MONDO:0006477 undifferentiated ovarian carcinoma skos:exactMatch SCTID:254856004 semapv:UnspecifiedMatching MONDO:0006477 undifferentiated ovarian carcinoma skos:exactMatch UMLS:C0346167 semapv:UnspecifiedMatching MONDO:0006478 undifferentiated pancreatic carcinoma skos:exactMatch NCIT:C5722 Pancreatic Undifferentiated Carcinoma semapv:UnspecifiedMatching MONDO:0006478 undifferentiated pancreatic carcinoma skos:exactMatch UMLS:C1336861 semapv:UnspecifiedMatching MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch DOID:7718 osteoclast-like giant cell neoplasm of the pancreas semapv:UnspecifiedMatching MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch NCIT:C5723 Pancreatic Undifferentiated Carcinoma with Osteoclast-Like Giant Cells semapv:UnspecifiedMatching MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:UnspecifiedMatching MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch UMLS:C2007059 semapv:UnspecifiedMatching MONDO:0006480 undifferentiated pleomorphic sarcoma, inflammatory variant skos:exactMatch DOID:6192 malignant inflammatory fibrous histiocytoma semapv:UnspecifiedMatching MONDO:0006480 undifferentiated pleomorphic sarcoma, inflammatory variant skos:exactMatch NCIT:C6497 Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant semapv:UnspecifiedMatching MONDO:0006480 undifferentiated pleomorphic sarcoma, inflammatory variant skos:exactMatch UMLS:C1334180 semapv:UnspecifiedMatching MONDO:0006481 ureter carcinoma skos:exactMatch DOID:4939 ureter carcinoma semapv:UnspecifiedMatching MONDO:0006481 ureter carcinoma skos:exactMatch NCIT:C8993 Ureter Carcinoma semapv:UnspecifiedMatching MONDO:0006481 ureter carcinoma skos:exactMatch SCTID:448864006 semapv:UnspecifiedMatching MONDO:0006481 ureter carcinoma skos:exactMatch UMLS:C0600079 semapv:UnspecifiedMatching MONDO:0006482 ureter small cell carcinoma skos:exactMatch DOID:6886 ureter small cell carcinoma semapv:UnspecifiedMatching MONDO:0006482 ureter small cell carcinoma skos:exactMatch NCIT:C6176 Ureter Small Cell Neuroendocrine Carcinoma semapv:UnspecifiedMatching MONDO:0006482 ureter small cell carcinoma skos:exactMatch UMLS:C1336878 semapv:UnspecifiedMatching MONDO:0006483 urothelial dysplasia skos:exactMatch NCIT:C39856 Urothelial Dysplasia semapv:UnspecifiedMatching MONDO:0006483 urothelial dysplasia skos:exactMatch UMLS:C1275859 semapv:UnspecifiedMatching MONDO:0006484 usual ductal breast hyperplasia skos:exactMatch NCIT:C27941 Breast Usual Ductal Hyperplasia semapv:UnspecifiedMatching MONDO:0006484 usual ductal breast hyperplasia skos:exactMatch SCTID:472905007 semapv:UnspecifiedMatching MONDO:0006484 usual ductal breast hyperplasia skos:exactMatch UMLS:C3532429 semapv:UnspecifiedMatching MONDO:0006485 uterine carcinosarcoma skos:exactMatch DOID:6171 uterine carcinosarcoma semapv:UnspecifiedMatching MONDO:0006485 uterine carcinosarcoma skos:exactMatch NCIT:C42700 Uterine Carcinosarcoma semapv:UnspecifiedMatching MONDO:0006485 uterine carcinosarcoma skos:exactMatch SCTID:702369008 semapv:UnspecifiedMatching MONDO:0006485 uterine carcinosarcoma skos:exactMatch UMLS:C0280630 semapv:UnspecifiedMatching MONDO:0006485 uterine carcinosarcoma skos:exactMatch mesh:D012192 semapv:UnspecifiedMatching MONDO:0006486 uveal melanoma skos:exactMatch DOID:6039 uveal melanoma semapv:UnspecifiedMatching MONDO:0006486 uveal melanoma skos:exactMatch NCIT:C7712 Uveal Melanoma semapv:UnspecifiedMatching MONDO:0006486 uveal melanoma skos:exactMatch OMIM:155720 melanoma, uveal semapv:UnspecifiedMatching MONDO:0006486 uveal melanoma skos:exactMatch Orphanet:39044 Uveal melanoma semapv:UnspecifiedMatching MONDO:0006486 uveal melanoma skos:exactMatch UMLS:C0220633 semapv:UnspecifiedMatching MONDO:0006486 uveal melanoma skos:exactMatch mesh:C536494 semapv:UnspecifiedMatching MONDO:0006487 vaginal adenoid cystic carcinoma skos:exactMatch NCIT:C40261 Vaginal Adenoid Cystic Carcinoma semapv:UnspecifiedMatching MONDO:0006487 vaginal adenoid cystic carcinoma skos:exactMatch UMLS:C1519912 semapv:UnspecifiedMatching MONDO:0006488 vaginal carcinosarcoma skos:exactMatch DOID:136 vaginal carcinosarcoma semapv:UnspecifiedMatching MONDO:0006488 vaginal carcinosarcoma skos:exactMatch NCIT:C40278 Vaginal Carcinosarcoma semapv:UnspecifiedMatching MONDO:0006488 vaginal carcinosarcoma skos:exactMatch UMLS:C1519918 semapv:UnspecifiedMatching MONDO:0006489 vaginal melanoma skos:exactMatch NCIT:C27394 Vaginal Melanoma semapv:UnspecifiedMatching MONDO:0006489 vaginal melanoma skos:exactMatch UMLS:C2004576 semapv:UnspecifiedMatching MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch NCIT:C180915 Vaginal Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch NCIT:C7736 Vaginal Squamous Cell Carcinoma, Not Otherwise Specified semapv:UnspecifiedMatching MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch SCTID:105121000119102 semapv:UnspecifiedMatching MONDO:0006490 vaginal squamous cell carcinoma skos:exactMatch UMLS:C0238518 semapv:UnspecifiedMatching MONDO:0006491 vulvar lichen sclerosus skos:exactMatch NCIT:C27723 Vulvar Lichen Sclerosus semapv:UnspecifiedMatching MONDO:0006491 vulvar lichen sclerosus skos:exactMatch UMLS:C0022783 semapv:UnspecifiedMatching MONDO:0006491 vulvar lichen sclerosus skos:exactMatch mesh:D007724 semapv:UnspecifiedMatching MONDO:0006493 Warthin tumor skos:exactMatch NCIT:C2854 Warthin Tumor semapv:UnspecifiedMatching MONDO:0006493 Warthin tumor skos:exactMatch SCTID:422470007 semapv:UnspecifiedMatching MONDO:0006493 Warthin tumor skos:exactMatch UMLS:C0001429 semapv:UnspecifiedMatching MONDO:0006493 Warthin tumor skos:exactMatch mesh:D000235 semapv:UnspecifiedMatching MONDO:0006496 palsy skos:exactMatch ICD10CM:G80-G83 Cerebral palsy and other paralytic syndromes (G80-G83) semapv:UnspecifiedMatching MONDO:0006496 palsy skos:exactMatch mesh:D010243 semapv:UnspecifiedMatching MONDO:0006497 cerebral palsy skos:exactMatch DOID:1969 cerebral palsy semapv:UnspecifiedMatching MONDO:0006497 cerebral palsy skos:exactMatch ICD10CM:G80 Cerebral palsy semapv:UnspecifiedMatching MONDO:0006497 cerebral palsy skos:exactMatch NCIT:C34460 Cerebral Palsy semapv:UnspecifiedMatching MONDO:0006497 cerebral palsy skos:exactMatch SCTID:128188000 semapv:UnspecifiedMatching MONDO:0006497 cerebral palsy skos:exactMatch UMLS:C0007789 semapv:UnspecifiedMatching MONDO:0006497 cerebral palsy skos:exactMatch mesh:D002547 semapv:UnspecifiedMatching MONDO:0006498 adenomatous colon polyp skos:exactMatch NCIT:C96479 Colon Adenomatous Polyp semapv:UnspecifiedMatching MONDO:0006498 adenomatous colon polyp skos:exactMatch SCTID:428054006 semapv:UnspecifiedMatching MONDO:0006498 adenomatous colon polyp skos:exactMatch UMLS:C0850572 semapv:UnspecifiedMatching MONDO:0006499 hamartoma skos:exactMatch NCIT:C3075 Hamartoma semapv:UnspecifiedMatching MONDO:0006499 hamartoma skos:exactMatch SCTID:400006008 semapv:UnspecifiedMatching MONDO:0006499 hamartoma skos:exactMatch UMLS:C0018552 semapv:UnspecifiedMatching MONDO:0006499 hamartoma skos:exactMatch mesh:D006222 semapv:UnspecifiedMatching MONDO:0006500 hemangioma skos:exactMatch DOID:255 hemangioma semapv:UnspecifiedMatching MONDO:0006500 hemangioma skos:exactMatch NCIT:C3085 Hemangioma semapv:UnspecifiedMatching MONDO:0006500 hemangioma skos:exactMatch SCTID:400210000 semapv:UnspecifiedMatching MONDO:0006500 hemangioma skos:exactMatch UMLS:C0018916 semapv:UnspecifiedMatching MONDO:0006500 hemangioma skos:exactMatch mesh:D006391 semapv:UnspecifiedMatching MONDO:0006502 acute respiratory distress syndrome skos:exactMatch ICD10CM:J80 Acute respiratory distress syndrome semapv:UnspecifiedMatching MONDO:0006502 acute respiratory distress syndrome skos:exactMatch NCIT:C3353 Acute Respiratory Distress Syndrome semapv:UnspecifiedMatching MONDO:0006504 acquired metabolic disease skos:exactMatch DOID:0060158 acquired metabolic disease semapv:UnspecifiedMatching MONDO:0006505 basal ganglia cerebrovascular disorder skos:exactMatch DOID:10991 basal ganglia cerebrovascular disease semapv:UnspecifiedMatching MONDO:0006505 basal ganglia cerebrovascular disorder skos:exactMatch UMLS:C0751739 semapv:UnspecifiedMatching MONDO:0006505 basal ganglia cerebrovascular disorder skos:exactMatch mesh:D020144 semapv:UnspecifiedMatching MONDO:0006506 congenital nonspherocytic hemolytic anemia skos:exactMatch DOID:2861 congenital nonspherocytic hemolytic anemia semapv:UnspecifiedMatching MONDO:0006506 congenital nonspherocytic hemolytic anemia skos:exactMatch SCTID:301317008 semapv:UnspecifiedMatching MONDO:0006506 congenital nonspherocytic hemolytic anemia skos:exactMatch UMLS:C0002882 semapv:UnspecifiedMatching MONDO:0006506 congenital nonspherocytic hemolytic anemia skos:exactMatch mesh:D000746 semapv:UnspecifiedMatching MONDO:0006507 hereditary hemochromatosis skos:exactMatch DOID:2352 hemochromatosis semapv:UnspecifiedMatching MONDO:0006507 hereditary hemochromatosis skos:exactMatch ICD10CM:E83.110 Hereditary hemochromatosis semapv:UnspecifiedMatching MONDO:0006507 hereditary hemochromatosis skos:exactMatch NCIT:C84481 Hereditary Hemochromatosis semapv:UnspecifiedMatching MONDO:0006507 hereditary hemochromatosis skos:exactMatch OMIMPS:235200 semapv:UnspecifiedMatching MONDO:0006507 hereditary hemochromatosis skos:exactMatch SCTID:35400008 semapv:UnspecifiedMatching MONDO:0006507 hereditary hemochromatosis skos:exactMatch mesh:D006432 semapv:UnspecifiedMatching MONDO:0006509 papillary carcinoma skos:exactMatch DOID:3113 papillary carcinoma semapv:UnspecifiedMatching MONDO:0006509 papillary carcinoma skos:exactMatch NCIT:C2927 Papillary Carcinoma semapv:UnspecifiedMatching MONDO:0006509 papillary carcinoma skos:exactMatch UMLS:C0007133 semapv:UnspecifiedMatching MONDO:0006509 papillary carcinoma skos:exactMatch mesh:D002291 semapv:UnspecifiedMatching MONDO:0006510 renal tubular transport disease skos:exactMatch DOID:447 renal tubular transport disease semapv:UnspecifiedMatching MONDO:0006510 renal tubular transport disease skos:exactMatch UMLS:C0035091 semapv:UnspecifiedMatching MONDO:0006510 renal tubular transport disease skos:exactMatch mesh:D015499 semapv:UnspecifiedMatching MONDO:0006512 estrogen-receptor positive breast cancer skos:exactMatch DOID:0060075 estrogen-receptor positive breast cancer semapv:UnspecifiedMatching MONDO:0006513 estrogen-receptor negative breast cancer skos:exactMatch DOID:0060076 estrogen-receptor negative breast cancer semapv:UnspecifiedMatching MONDO:0006515 acute pancreatitis skos:exactMatch DOID:2913 acute pancreatitis semapv:UnspecifiedMatching MONDO:0006515 acute pancreatitis skos:exactMatch NCIT:C95437 Acute Pancreatitis semapv:UnspecifiedMatching MONDO:0006515 acute pancreatitis skos:exactMatch SCTID:7881005 semapv:UnspecifiedMatching MONDO:0006515 acute pancreatitis skos:exactMatch UMLS:C0001339 semapv:UnspecifiedMatching MONDO:0006516 obsolete sarcopenia skos:exactMatch ICD10CM:M62.84 Sarcopenia semapv:UnspecifiedMatching MONDO:0006516 obsolete sarcopenia skos:exactMatch UMLS:C0872084 semapv:UnspecifiedMatching MONDO:0006516 obsolete sarcopenia skos:exactMatch mesh:D055948 semapv:UnspecifiedMatching MONDO:0006517 childhood malignant neoplasm skos:exactMatch NCIT:C4005 Childhood Malignant Neoplasm semapv:UnspecifiedMatching MONDO:0006517 childhood malignant neoplasm skos:exactMatch UMLS:C0278704 semapv:UnspecifiedMatching MONDO:0006519 rectal cancer skos:exactMatch DOID:1993 rectum cancer semapv:UnspecifiedMatching MONDO:0006519 rectal cancer skos:exactMatch NCIT:C7418 Malignant Rectal Neoplasm semapv:UnspecifiedMatching MONDO:0006519 rectal cancer skos:exactMatch SCTID:363351006 semapv:UnspecifiedMatching MONDO:0006520 Achenbach syndrome skos:exactMatch DOID:6687 Achenbach syndrome semapv:UnspecifiedMatching MONDO:0006520 Achenbach syndrome skos:exactMatch NCIT:C35467 Achenbach Syndrome semapv:UnspecifiedMatching MONDO:0006520 Achenbach syndrome skos:exactMatch SCTID:238824006 semapv:UnspecifiedMatching MONDO:0006521 acneiform dermatitis skos:exactMatch DOID:4399 acneiform dermatitis semapv:UnspecifiedMatching MONDO:0006521 acneiform dermatitis skos:exactMatch NCIT:C35277 Acneiform Dermatitis semapv:UnspecifiedMatching MONDO:0006521 acneiform dermatitis skos:exactMatch UMLS:C0234894 semapv:UnspecifiedMatching MONDO:0006522 acquired keratosis skos:exactMatch DOID:13072 acquired hyperkeratosis semapv:UnspecifiedMatching MONDO:0006522 acquired keratosis skos:exactMatch NCIT:C34746 Acquired Keratoderma semapv:UnspecifiedMatching MONDO:0006522 acquired keratosis skos:exactMatch SCTID:400166009 semapv:UnspecifiedMatching MONDO:0006523 acrodermatitis skos:exactMatch DOID:2722 acrodermatitis semapv:UnspecifiedMatching MONDO:0006523 acrodermatitis skos:exactMatch NCIT:C84532 Acrodermatitis semapv:UnspecifiedMatching MONDO:0006523 acrodermatitis skos:exactMatch SCTID:8197001 semapv:UnspecifiedMatching MONDO:0006523 acrodermatitis skos:exactMatch UMLS:C0001197 semapv:UnspecifiedMatching MONDO:0006523 acrodermatitis skos:exactMatch mesh:D000169 semapv:UnspecifiedMatching MONDO:0006524 acrodermatitis chronica atrophicans skos:exactMatch DOID:0060344 acrodermatitis chronica atrophicans semapv:UnspecifiedMatching MONDO:0006524 acrodermatitis chronica atrophicans skos:exactMatch ICD10CM:L90.4 Acrodermatitis chronica atrophicans semapv:UnspecifiedMatching MONDO:0006524 acrodermatitis chronica atrophicans skos:exactMatch SCTID:4340003 semapv:UnspecifiedMatching MONDO:0006524 acrodermatitis chronica atrophicans skos:exactMatch UMLS:C0263421 semapv:UnspecifiedMatching MONDO:0006525 allergic contact dermatitis skos:exactMatch DOID:3042 allergic contact dermatitis semapv:UnspecifiedMatching MONDO:0006525 allergic contact dermatitis skos:exactMatch ICD10CM:L23 Allergic contact dermatitis semapv:UnspecifiedMatching MONDO:0006525 allergic contact dermatitis skos:exactMatch NCIT:C26998 Allergic Contact Dermatitis semapv:UnspecifiedMatching MONDO:0006525 allergic contact dermatitis skos:exactMatch SCTID:238575004 semapv:UnspecifiedMatching MONDO:0006525 allergic contact dermatitis skos:exactMatch UMLS:C0162820 semapv:UnspecifiedMatching MONDO:0006525 allergic contact dermatitis skos:exactMatch mesh:D017449 semapv:UnspecifiedMatching MONDO:0006526 allergic urticaria skos:exactMatch DOID:10612 allergic urticaria semapv:UnspecifiedMatching MONDO:0006526 allergic urticaria skos:exactMatch ICD10CM:L50.0 Allergic urticaria semapv:UnspecifiedMatching MONDO:0006526 allergic urticaria skos:exactMatch SCTID:40178009 semapv:UnspecifiedMatching MONDO:0006526 allergic urticaria skos:exactMatch UMLS:C0149526 semapv:UnspecifiedMatching MONDO:0006527 anhidrosis skos:exactMatch DOID:11156 anhidrosis semapv:UnspecifiedMatching MONDO:0006527 anhidrosis skos:exactMatch ICD10CM:L74.4 Anhidrosis semapv:UnspecifiedMatching MONDO:0006527 anhidrosis skos:exactMatch SCTID:39659002 semapv:UnspecifiedMatching MONDO:0006528 bacterial exanthem skos:exactMatch DOID:0050487 bacterial exanthem semapv:UnspecifiedMatching MONDO:0006530 cholesteatoma skos:exactMatch DOID:869 cholesteatoma semapv:UnspecifiedMatching MONDO:0006530 cholesteatoma skos:exactMatch NCIT:C2944 Cholesteatoma semapv:UnspecifiedMatching MONDO:0006530 cholesteatoma skos:exactMatch SCTID:363668000 semapv:UnspecifiedMatching MONDO:0006530 cholesteatoma skos:exactMatch UMLS:C0008373 semapv:UnspecifiedMatching MONDO:0006530 cholesteatoma skos:exactMatch mesh:D002781 semapv:UnspecifiedMatching MONDO:0006531 cholesteatoma of attic skos:exactMatch DOID:10963 cholesteatoma of attic semapv:UnspecifiedMatching MONDO:0006531 cholesteatoma of attic skos:exactMatch SCTID:38708003 semapv:UnspecifiedMatching MONDO:0006531 cholesteatoma of attic skos:exactMatch UMLS:C0155489 semapv:UnspecifiedMatching MONDO:0006532 cholesteatoma of external ear skos:exactMatch DOID:9462 cholesteatoma of external ear semapv:UnspecifiedMatching MONDO:0006532 cholesteatoma of external ear skos:exactMatch ICD10CM:H60.4 Cholesteatoma of external ear semapv:UnspecifiedMatching MONDO:0006532 cholesteatoma of external ear skos:exactMatch SCTID:35247001 semapv:UnspecifiedMatching MONDO:0006532 cholesteatoma of external ear skos:exactMatch UMLS:C0155398 semapv:UnspecifiedMatching MONDO:0006533 cholesteatoma of middle ear skos:exactMatch DOID:10964 cholesteatoma of middle ear semapv:UnspecifiedMatching MONDO:0006533 cholesteatoma of middle ear skos:exactMatch ICD10CM:H71 Cholesteatoma of middle ear semapv:UnspecifiedMatching MONDO:0006533 cholesteatoma of middle ear skos:exactMatch NCIT:C3654 Middle Ear Cholesteatoma semapv:UnspecifiedMatching MONDO:0006533 cholesteatoma of middle ear skos:exactMatch SCTID:194339007 semapv:UnspecifiedMatching MONDO:0006533 cholesteatoma of middle ear skos:exactMatch UMLS:C0155490 semapv:UnspecifiedMatching MONDO:0006533 cholesteatoma of middle ear skos:exactMatch mesh:D018424 semapv:UnspecifiedMatching MONDO:0006534 cholinergic urticaria skos:exactMatch DOID:14443 cholinergic urticaria semapv:UnspecifiedMatching MONDO:0006534 cholinergic urticaria skos:exactMatch ICD10CM:L50.5 Cholinergic urticaria semapv:UnspecifiedMatching MONDO:0006534 cholinergic urticaria skos:exactMatch SCTID:73098005 semapv:UnspecifiedMatching MONDO:0006534 cholinergic urticaria skos:exactMatch UMLS:C0152230 semapv:UnspecifiedMatching MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch DOID:0050585 congenital generalized lipodystrophy semapv:UnspecifiedMatching MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch OMIMPS:608594 semapv:UnspecifiedMatching MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch SCTID:284449005 semapv:UnspecifiedMatching MONDO:0006537 conjunctival pigmentation skos:exactMatch DOID:12304 conjunctival pigmentation semapv:UnspecifiedMatching MONDO:0006537 conjunctival pigmentation skos:exactMatch SCTID:66081003 semapv:UnspecifiedMatching MONDO:0006537 conjunctival pigmentation skos:exactMatch UMLS:C0155163 semapv:UnspecifiedMatching MONDO:0006539 diffuse lipomatosis skos:exactMatch DOID:3923 diffuse lipomatosis semapv:UnspecifiedMatching MONDO:0006539 diffuse lipomatosis skos:exactMatch NCIT:C6504 Diffuse Lipomatosis semapv:UnspecifiedMatching MONDO:0006539 diffuse lipomatosis skos:exactMatch UMLS:C1333298 semapv:UnspecifiedMatching MONDO:0006540 dyshidrosis skos:exactMatch DOID:9230 pompholyx semapv:UnspecifiedMatching MONDO:0006540 dyshidrosis skos:exactMatch SCTID:402567004 semapv:UnspecifiedMatching MONDO:0006540 dyshidrosis skos:exactMatch UMLS:C0032633 semapv:UnspecifiedMatching MONDO:0006540 dyshidrosis skos:exactMatch mesh:D011146 semapv:UnspecifiedMatching MONDO:0006541 epidermolysis bullosa skos:exactMatch DOID:2730 epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0006541 epidermolysis bullosa skos:exactMatch ICD10CM:Q81 Epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0006541 epidermolysis bullosa skos:exactMatch NCIT:C67383 Epidermolysis Bullosa semapv:UnspecifiedMatching MONDO:0006541 epidermolysis bullosa skos:exactMatch SCTID:61003004 semapv:UnspecifiedMatching MONDO:0006541 epidermolysis bullosa skos:exactMatch mesh:D004820 semapv:UnspecifiedMatching MONDO:0006543 epidermolysis bullosa dystrophica skos:exactMatch DOID:4959 epidermolysis bullosa dystrophica semapv:UnspecifiedMatching MONDO:0006543 epidermolysis bullosa dystrophica skos:exactMatch NCIT:C84691 Epidermolysis Bullosa Dystrophica semapv:UnspecifiedMatching MONDO:0006543 epidermolysis bullosa dystrophica skos:exactMatch Orphanet:303 Dystrophic epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0006543 epidermolysis bullosa dystrophica skos:exactMatch SCTID:254185007 semapv:UnspecifiedMatching MONDO:0006543 epidermolysis bullosa dystrophica skos:exactMatch mesh:D016108 semapv:UnspecifiedMatching MONDO:0006544 erythema infectiosum skos:exactMatch DOID:8743 erythema infectiosum semapv:UnspecifiedMatching MONDO:0006544 erythema infectiosum skos:exactMatch NCIT:C84695 Erythema Infectiosum semapv:UnspecifiedMatching MONDO:0006544 erythema infectiosum skos:exactMatch SCTID:34730008 semapv:UnspecifiedMatching MONDO:0006544 erythema infectiosum skos:exactMatch UMLS:C0085273 semapv:UnspecifiedMatching MONDO:0006544 erythema infectiosum skos:exactMatch mesh:D016731 semapv:UnspecifiedMatching MONDO:0006545 erythema multiforme skos:exactMatch DOID:0050185 erythema multiforme semapv:UnspecifiedMatching MONDO:0006545 erythema multiforme skos:exactMatch ICD10CM:L51 Erythema multiforme semapv:UnspecifiedMatching MONDO:0006545 erythema multiforme skos:exactMatch NCIT:C3024 Erythema Multiforme semapv:UnspecifiedMatching MONDO:0006545 erythema multiforme skos:exactMatch SCTID:36715001 semapv:UnspecifiedMatching MONDO:0006545 erythema multiforme skos:exactMatch UMLS:C0014742 semapv:UnspecifiedMatching MONDO:0006545 erythema multiforme skos:exactMatch mesh:D004892 semapv:UnspecifiedMatching MONDO:0006546 erythematosquamous dermatosis skos:exactMatch DOID:9097 erythematosquamous dermatosis semapv:UnspecifiedMatching MONDO:0006546 erythematosquamous dermatosis skos:exactMatch NCIT:C34591 Erythematosquamous Dermatosis semapv:UnspecifiedMatching MONDO:0006546 erythematosquamous dermatosis skos:exactMatch SCTID:54792008 semapv:UnspecifiedMatching MONDO:0006546 erythematosquamous dermatosis skos:exactMatch UMLS:C0014747 semapv:UnspecifiedMatching MONDO:0006547 exanthem skos:exactMatch DOID:0050486 exanthem semapv:UnspecifiedMatching MONDO:0006547 exanthem skos:exactMatch NCIT:C39594 Skin Rash semapv:UnspecifiedMatching MONDO:0006547 exanthem skos:exactMatch SCTID:271807003 semapv:UnspecifiedMatching MONDO:0006547 exanthem skos:exactMatch mesh:D005076 semapv:UnspecifiedMatching MONDO:0006548 facial dermatosis skos:exactMatch DOID:3134 facial dermatosis semapv:UnspecifiedMatching MONDO:0006548 facial dermatosis skos:exactMatch UMLS:C0015456 semapv:UnspecifiedMatching MONDO:0006548 facial dermatosis skos:exactMatch mesh:D005148 semapv:UnspecifiedMatching MONDO:0006549 fibroepithelial polyp of the anus skos:exactMatch DOID:8170 fibroepithelial polyp of the anus semapv:UnspecifiedMatching MONDO:0006549 fibroepithelial polyp of the anus skos:exactMatch NCIT:C4435 Anal Fibroepithelial Polyp semapv:UnspecifiedMatching MONDO:0006549 fibroepithelial polyp of the anus skos:exactMatch SCTID:195469007 semapv:UnspecifiedMatching MONDO:0006550 fibroepithelial polyp of urethra skos:exactMatch DOID:8108 fibroepithelial polyp of urethra semapv:UnspecifiedMatching MONDO:0006550 fibroepithelial polyp of urethra skos:exactMatch NCIT:C6170 Urethra Fibroepithelial Polyp semapv:UnspecifiedMatching MONDO:0006550 fibroepithelial polyp of urethra skos:exactMatch UMLS:C1336884 semapv:UnspecifiedMatching MONDO:0006551 alopecia mucinosa skos:exactMatch DOID:9905 follicular mucinosis semapv:UnspecifiedMatching MONDO:0006551 alopecia mucinosa skos:exactMatch ICD10CM:L65.2 Alopecia mucinosa semapv:UnspecifiedMatching MONDO:0006551 alopecia mucinosa skos:exactMatch NCIT:C82859 Alopecia Mucinosa semapv:UnspecifiedMatching MONDO:0006551 alopecia mucinosa skos:exactMatch SCTID:27382006 semapv:UnspecifiedMatching MONDO:0006551 alopecia mucinosa skos:exactMatch UMLS:C0002173 semapv:UnspecifiedMatching MONDO:0006551 alopecia mucinosa skos:exactMatch mesh:D000507 semapv:UnspecifiedMatching MONDO:0006552 folliculitis skos:exactMatch DOID:4409 folliculitis semapv:UnspecifiedMatching MONDO:0006552 folliculitis skos:exactMatch NCIT:C94408 Folliculitis semapv:UnspecifiedMatching MONDO:0006552 folliculitis skos:exactMatch SCTID:13600006 semapv:UnspecifiedMatching MONDO:0006552 folliculitis skos:exactMatch mesh:D005499 semapv:UnspecifiedMatching MONDO:0006553 Fox-Fordyce disease skos:exactMatch DOID:1381 Fox-Fordyce disease semapv:UnspecifiedMatching MONDO:0006553 Fox-Fordyce disease skos:exactMatch ICD10CM:L75.2 Apocrine miliaria semapv:UnspecifiedMatching MONDO:0006553 Fox-Fordyce disease skos:exactMatch NCIT:C84716 Fox-Fordyce Disease semapv:UnspecifiedMatching MONDO:0006553 Fox-Fordyce disease skos:exactMatch SCTID:65038009 semapv:UnspecifiedMatching MONDO:0006553 Fox-Fordyce disease skos:exactMatch UMLS:C0016632 semapv:UnspecifiedMatching MONDO:0006553 Fox-Fordyce disease skos:exactMatch mesh:D005588 semapv:UnspecifiedMatching MONDO:0006554 granuloma annulare skos:exactMatch DOID:3777 granuloma annulare semapv:UnspecifiedMatching MONDO:0006554 granuloma annulare skos:exactMatch ICD10CM:L92.0 Granuloma annulare semapv:UnspecifiedMatching MONDO:0006554 granuloma annulare skos:exactMatch NCIT:C3470 Granuloma Annulare semapv:UnspecifiedMatching MONDO:0006554 granuloma annulare skos:exactMatch SCTID:65508009 semapv:UnspecifiedMatching MONDO:0006554 granuloma annulare skos:exactMatch UMLS:C0085074 semapv:UnspecifiedMatching MONDO:0006554 granuloma annulare skos:exactMatch mesh:D016460 semapv:UnspecifiedMatching MONDO:0006555 granulomatous dermatitis skos:exactMatch DOID:4397 granulomatous dermatitis semapv:UnspecifiedMatching MONDO:0006555 granulomatous dermatitis skos:exactMatch NCIT:C3505 Granulomatous Dermatitis semapv:UnspecifiedMatching MONDO:0006555 granulomatous dermatitis skos:exactMatch UMLS:C0743086 semapv:UnspecifiedMatching MONDO:0006556 hand dermatosis skos:exactMatch DOID:3158 hand dermatosis semapv:UnspecifiedMatching MONDO:0006556 hand dermatosis skos:exactMatch UMLS:C0018567 semapv:UnspecifiedMatching MONDO:0006556 hand dermatosis skos:exactMatch mesh:D006229 semapv:UnspecifiedMatching MONDO:0006557 hemangioma of subcutaneous tissue skos:exactMatch DOID:13081 hemangioma of subcutaneous tissue semapv:UnspecifiedMatching MONDO:0006557 hemangioma of subcutaneous tissue skos:exactMatch NCIT:C8540 Subcutaneous Hemangioma semapv:UnspecifiedMatching MONDO:0006557 hemangioma of subcutaneous tissue skos:exactMatch SCTID:93473009 semapv:UnspecifiedMatching MONDO:0006557 hemangioma of subcutaneous tissue skos:exactMatch UMLS:C0685200 semapv:UnspecifiedMatching MONDO:0006558 pemphigoid gestationis skos:exactMatch DOID:0040098 pemphigus gestationis semapv:UnspecifiedMatching MONDO:0006558 pemphigoid gestationis skos:exactMatch DOID:14482 pemphigoid gestationis semapv:UnspecifiedMatching MONDO:0006558 pemphigoid gestationis skos:exactMatch NCIT:C85003 Pemphigoid Gestationis semapv:UnspecifiedMatching MONDO:0006558 pemphigoid gestationis skos:exactMatch Orphanet:63275 Pemphigoid gestationis semapv:UnspecifiedMatching MONDO:0006558 pemphigoid gestationis skos:exactMatch SCTID:86081009 semapv:UnspecifiedMatching MONDO:0006558 pemphigoid gestationis skos:exactMatch UMLS:C0019343 semapv:UnspecifiedMatching MONDO:0006558 pemphigoid gestationis skos:exactMatch mesh:D006559 semapv:UnspecifiedMatching MONDO:0006559 hidradenitis suppurativa skos:exactMatch DOID:2280 hidradenitis suppurativa semapv:UnspecifiedMatching MONDO:0006559 hidradenitis suppurativa skos:exactMatch ICD10CM:L73.2 Hidradenitis suppurativa semapv:UnspecifiedMatching MONDO:0006559 hidradenitis suppurativa skos:exactMatch SCTID:59393003 semapv:UnspecifiedMatching MONDO:0006559 hidradenitis suppurativa skos:exactMatch UMLS:C0162836 semapv:UnspecifiedMatching MONDO:0006559 hidradenitis suppurativa skos:exactMatch mesh:D017497 semapv:UnspecifiedMatching MONDO:0006560 obsolete hypohidrosis skos:exactMatch DOID:11155 hypohidrosis semapv:UnspecifiedMatching MONDO:0006560 obsolete hypohidrosis skos:exactMatch SCTID:45004005 semapv:UnspecifiedMatching MONDO:0006560 obsolete hypohidrosis skos:exactMatch UMLS:C0020620 semapv:UnspecifiedMatching MONDO:0006560 obsolete hypohidrosis skos:exactMatch mesh:D007007 semapv:UnspecifiedMatching MONDO:0006561 eyelid hypopigmentation skos:exactMatch DOID:11668 hypopigmentation of eyelid semapv:UnspecifiedMatching MONDO:0006561 eyelid hypopigmentation skos:exactMatch SCTID:68210006 semapv:UnspecifiedMatching MONDO:0006561 eyelid hypopigmentation skos:exactMatch UMLS:C0155212 semapv:UnspecifiedMatching MONDO:0006562 obsolete incontinentia pigmenti achromians skos:exactMatch SCTID:218358001 semapv:UnspecifiedMatching MONDO:0006563 inverted follicular keratosis skos:exactMatch DOID:6945 inverted follicular keratosis semapv:UnspecifiedMatching MONDO:0006563 inverted follicular keratosis skos:exactMatch NCIT:C9007 Inverted Follicular Keratosis semapv:UnspecifiedMatching MONDO:0006563 inverted follicular keratosis skos:exactMatch SCTID:394728005 semapv:UnspecifiedMatching MONDO:0006563 inverted follicular keratosis skos:exactMatch UMLS:C0334019 semapv:UnspecifiedMatching MONDO:0006564 irritant dermatitis skos:exactMatch DOID:2772 irritant dermatitis semapv:UnspecifiedMatching MONDO:0006564 irritant dermatitis skos:exactMatch NCIT:C27151 Irritant Contact Dermatitis semapv:UnspecifiedMatching MONDO:0006564 irritant dermatitis skos:exactMatch SCTID:110979008 semapv:UnspecifiedMatching MONDO:0006564 irritant dermatitis skos:exactMatch UMLS:C0162823 semapv:UnspecifiedMatching MONDO:0006564 irritant dermatitis skos:exactMatch mesh:D017453 semapv:UnspecifiedMatching MONDO:0006565 juvenile dermatitis herpetiformis skos:exactMatch DOID:8507 juvenile dermatitis herpetiformis semapv:UnspecifiedMatching MONDO:0006565 juvenile dermatitis herpetiformis skos:exactMatch SCTID:5906000 semapv:UnspecifiedMatching MONDO:0006565 juvenile dermatitis herpetiformis skos:exactMatch UMLS:C0152092 semapv:UnspecifiedMatching MONDO:0006566 keratosis skos:exactMatch DOID:161 keratosis semapv:UnspecifiedMatching MONDO:0006566 keratosis skos:exactMatch NCIT:C34745 Keratoderma semapv:UnspecifiedMatching MONDO:0006566 keratosis skos:exactMatch SCTID:254666005 semapv:UnspecifiedMatching MONDO:0006566 keratosis skos:exactMatch UMLS:C0022593 semapv:UnspecifiedMatching MONDO:0006566 keratosis skos:exactMatch mesh:D007642 semapv:UnspecifiedMatching MONDO:0006567 kernicterus due to isoimmunization skos:exactMatch DOID:12043 kernicterus due to isoimmunization semapv:UnspecifiedMatching MONDO:0006567 kernicterus due to isoimmunization skos:exactMatch ICD10CM:P57.0 Kernicterus due to isoimmunization semapv:UnspecifiedMatching MONDO:0006567 kernicterus due to isoimmunization skos:exactMatch NCIT:C101270 Kernicterus Related to Isoimmunization semapv:UnspecifiedMatching MONDO:0006567 kernicterus due to isoimmunization skos:exactMatch SCTID:359007 semapv:UnspecifiedMatching MONDO:0006567 kernicterus due to isoimmunization skos:exactMatch UMLS:C0270204 semapv:UnspecifiedMatching MONDO:0006569 leg dermatosis skos:exactMatch DOID:3142 leg dermatosis semapv:UnspecifiedMatching MONDO:0006569 leg dermatosis skos:exactMatch UMLS:C0023219 semapv:UnspecifiedMatching MONDO:0006569 leg dermatosis skos:exactMatch mesh:D007868 semapv:UnspecifiedMatching MONDO:0006570 lichen disease skos:exactMatch DOID:8574 lichen disease semapv:UnspecifiedMatching MONDO:0006570 lichen disease skos:exactMatch SCTID:88996004 semapv:UnspecifiedMatching MONDO:0006570 lichen disease skos:exactMatch UMLS:C0023643 semapv:UnspecifiedMatching MONDO:0006571 lichen nitidus skos:exactMatch DOID:8573 lichen nitidus semapv:UnspecifiedMatching MONDO:0006571 lichen nitidus skos:exactMatch ICD10CM:L44.1 Lichen nitidus semapv:UnspecifiedMatching MONDO:0006571 lichen nitidus skos:exactMatch SCTID:41890004 semapv:UnspecifiedMatching MONDO:0006571 lichen nitidus skos:exactMatch UMLS:C0162849 semapv:UnspecifiedMatching MONDO:0006571 lichen nitidus skos:exactMatch mesh:D017513 semapv:UnspecifiedMatching MONDO:0006572 lichen planus skos:exactMatch DOID:9201 lichen planus semapv:UnspecifiedMatching MONDO:0006572 lichen planus skos:exactMatch ICD10CM:L43 Lichen planus semapv:UnspecifiedMatching MONDO:0006572 lichen planus skos:exactMatch NCIT:C3189 Lichen Planus semapv:UnspecifiedMatching MONDO:0006572 lichen planus skos:exactMatch SCTID:4776004 semapv:UnspecifiedMatching MONDO:0006572 lichen planus skos:exactMatch UMLS:C0023646 semapv:UnspecifiedMatching MONDO:0006572 lichen planus skos:exactMatch mesh:D008010 semapv:UnspecifiedMatching MONDO:0006573 lipodystrophy skos:exactMatch DOID:811 lipodystrophy semapv:UnspecifiedMatching MONDO:0006573 lipodystrophy skos:exactMatch NCIT:C97093 Lipodystrophy semapv:UnspecifiedMatching MONDO:0006573 lipodystrophy skos:exactMatch SCTID:71325002 semapv:UnspecifiedMatching MONDO:0006573 lipodystrophy skos:exactMatch UMLS:C0023787 semapv:UnspecifiedMatching MONDO:0006573 lipodystrophy skos:exactMatch mesh:D008060 semapv:UnspecifiedMatching MONDO:0006574 lipomatosis skos:exactMatch DOID:3153 lipomatosis semapv:UnspecifiedMatching MONDO:0006574 lipomatosis skos:exactMatch NCIT:C3193 Lipomatosis semapv:UnspecifiedMatching MONDO:0006574 lipomatosis skos:exactMatch SCTID:402693001 semapv:UnspecifiedMatching MONDO:0006574 lipomatosis skos:exactMatch UMLS:C0023801 semapv:UnspecifiedMatching MONDO:0006574 lipomatosis skos:exactMatch mesh:D008068 semapv:UnspecifiedMatching MONDO:0006576 Ludwig's angina skos:exactMatch DOID:4558 Ludwig's angina semapv:UnspecifiedMatching MONDO:0006576 Ludwig's angina skos:exactMatch SCTID:196542004 semapv:UnspecifiedMatching MONDO:0006576 Ludwig's angina skos:exactMatch UMLS:C0024081 semapv:UnspecifiedMatching MONDO:0006576 Ludwig's angina skos:exactMatch mesh:D008158 semapv:UnspecifiedMatching MONDO:0006577 maxillary sinus cholesteatoma skos:exactMatch DOID:867 maxillary sinus cholesteatoma semapv:UnspecifiedMatching MONDO:0006577 maxillary sinus cholesteatoma skos:exactMatch NCIT:C35868 Maxillary Sinus Cholesteatoma semapv:UnspecifiedMatching MONDO:0006577 maxillary sinus cholesteatoma skos:exactMatch UMLS:C1334644 semapv:UnspecifiedMatching MONDO:0006578 mediastinal lipomatosis skos:exactMatch DOID:3926 mediastinal lipomatosis semapv:UnspecifiedMatching MONDO:0006578 mediastinal lipomatosis skos:exactMatch NCIT:C27488 Mediastinal Lipomatosis semapv:UnspecifiedMatching MONDO:0006578 mediastinal lipomatosis skos:exactMatch UMLS:C1334662 semapv:UnspecifiedMatching MONDO:0006579 melanoacanthoma skos:exactMatch DOID:11684 melanoacanthoma semapv:UnspecifiedMatching MONDO:0006579 melanoacanthoma skos:exactMatch NCIT:C27548 Melanoacanthoma semapv:UnspecifiedMatching MONDO:0006579 melanoacanthoma skos:exactMatch SCTID:394727000 semapv:UnspecifiedMatching MONDO:0006579 melanoacanthoma skos:exactMatch UMLS:C1321683 semapv:UnspecifiedMatching MONDO:0006580 miliaria skos:exactMatch DOID:1382 miliaria semapv:UnspecifiedMatching MONDO:0006580 miliaria skos:exactMatch NCIT:C34820 Miliaria semapv:UnspecifiedMatching MONDO:0006580 miliaria skos:exactMatch SCTID:63951004 semapv:UnspecifiedMatching MONDO:0006580 miliaria skos:exactMatch UMLS:C0026113 semapv:UnspecifiedMatching MONDO:0006580 miliaria skos:exactMatch mesh:D008883 semapv:UnspecifiedMatching MONDO:0006581 miliaria rubra skos:exactMatch DOID:11153 miliaria rubra semapv:UnspecifiedMatching MONDO:0006581 miliaria rubra skos:exactMatch SCTID:44279002 semapv:UnspecifiedMatching MONDO:0006581 miliaria rubra skos:exactMatch UMLS:C0162423 semapv:UnspecifiedMatching MONDO:0006582 mongolian spot skos:exactMatch DOID:4702 mongolian spot semapv:UnspecifiedMatching MONDO:0006582 mongolian spot skos:exactMatch NCIT:C3945 Mongolian Spot semapv:UnspecifiedMatching MONDO:0006582 mongolian spot skos:exactMatch SCTID:40467008 semapv:UnspecifiedMatching MONDO:0006582 mongolian spot skos:exactMatch UMLS:C0265985 semapv:UnspecifiedMatching MONDO:0006582 mongolian spot skos:exactMatch mesh:D049328 semapv:UnspecifiedMatching MONDO:0006583 necrobiosis lipoidica skos:exactMatch DOID:3486 necrobiosis lipoidica semapv:UnspecifiedMatching MONDO:0006583 necrobiosis lipoidica skos:exactMatch NCIT:C34840 Necrobiosis Lipoidica semapv:UnspecifiedMatching MONDO:0006583 necrobiosis lipoidica skos:exactMatch Orphanet:542592 Necrobiosis lipoidica semapv:UnspecifiedMatching MONDO:0006583 necrobiosis lipoidica skos:exactMatch SCTID:9418005 semapv:UnspecifiedMatching MONDO:0006583 necrobiosis lipoidica skos:exactMatch UMLS:C0027538 semapv:UnspecifiedMatching MONDO:0006583 necrobiosis lipoidica skos:exactMatch mesh:D009335 semapv:UnspecifiedMatching MONDO:0006584 obsolete neonatal jaundice skos:exactMatch DOID:2383 neonatal jaundice semapv:UnspecifiedMatching MONDO:0006584 obsolete neonatal jaundice skos:exactMatch SCTID:387712008 semapv:UnspecifiedMatching MONDO:0006584 obsolete neonatal jaundice skos:exactMatch UMLS:C0022353 semapv:UnspecifiedMatching MONDO:0006584 obsolete neonatal jaundice skos:exactMatch mesh:D007567 semapv:UnspecifiedMatching MONDO:0006585 neurodermatitis skos:exactMatch DOID:3309 neurodermatitis semapv:UnspecifiedMatching MONDO:0006585 neurodermatitis skos:exactMatch NCIT:C111963 Neurodermatitis semapv:UnspecifiedMatching MONDO:0006585 neurodermatitis skos:exactMatch SCTID:267854005 semapv:UnspecifiedMatching MONDO:0006585 neurodermatitis skos:exactMatch UMLS:C0027822 semapv:UnspecifiedMatching MONDO:0006585 neurodermatitis skos:exactMatch mesh:D009450 semapv:UnspecifiedMatching MONDO:0006586 neurotic excoriation skos:exactMatch DOID:9165 neurotic excoriation semapv:UnspecifiedMatching MONDO:0006586 neurotic excoriation skos:exactMatch SCTID:402736003 semapv:UnspecifiedMatching MONDO:0006586 neurotic excoriation skos:exactMatch UMLS:C1274184 semapv:UnspecifiedMatching MONDO:0006589 occupational dermatitis skos:exactMatch DOID:4404 occupational dermatitis semapv:UnspecifiedMatching MONDO:0006589 occupational dermatitis skos:exactMatch NCIT:C34859 Occupational Dermatitis semapv:UnspecifiedMatching MONDO:0006589 occupational dermatitis skos:exactMatch SCTID:402587003 semapv:UnspecifiedMatching MONDO:0006589 occupational dermatitis skos:exactMatch UMLS:C0028796 semapv:UnspecifiedMatching MONDO:0006589 occupational dermatitis skos:exactMatch mesh:D009783 semapv:UnspecifiedMatching MONDO:0006590 palmoplantar keratosis skos:exactMatch DOID:3390 palmoplantar keratosis semapv:UnspecifiedMatching MONDO:0006590 palmoplantar keratosis skos:exactMatch NCIT:C34748 Palmoplantar Keratoderma semapv:UnspecifiedMatching MONDO:0006590 palmoplantar keratosis skos:exactMatch SCTID:706885006 semapv:UnspecifiedMatching MONDO:0006591 panniculitis skos:exactMatch DOID:1526 panniculitis semapv:UnspecifiedMatching MONDO:0006591 panniculitis skos:exactMatch NCIT:C33645 Subcutis semapv:UnspecifiedMatching MONDO:0006591 panniculitis skos:exactMatch SCTID:22125009 semapv:UnspecifiedMatching MONDO:0006591 panniculitis skos:exactMatch UMLS:C0030326 semapv:UnspecifiedMatching MONDO:0006591 panniculitis skos:exactMatch mesh:D015434 semapv:UnspecifiedMatching MONDO:0006592 parapsoriasis skos:exactMatch DOID:9088 parapsoriasis semapv:UnspecifiedMatching MONDO:0006592 parapsoriasis skos:exactMatch ICD10CM:L41 Parapsoriasis semapv:UnspecifiedMatching MONDO:0006592 parapsoriasis skos:exactMatch NCIT:C3312 Parapsoriasis semapv:UnspecifiedMatching MONDO:0006592 parapsoriasis skos:exactMatch SCTID:88233000 semapv:UnspecifiedMatching MONDO:0006592 parapsoriasis skos:exactMatch UMLS:C0030491 semapv:UnspecifiedMatching MONDO:0006592 parapsoriasis skos:exactMatch mesh:D010267 semapv:UnspecifiedMatching MONDO:0006593 pelvic lipomatosis skos:exactMatch DOID:3927 pelvic lipomatosis semapv:UnspecifiedMatching MONDO:0006593 pelvic lipomatosis skos:exactMatch NCIT:C27486 Pelvic Lipomatosis semapv:UnspecifiedMatching MONDO:0006593 pelvic lipomatosis skos:exactMatch UMLS:C0406608 semapv:UnspecifiedMatching MONDO:0006593 pelvic lipomatosis skos:exactMatch mesh:C535549 semapv:UnspecifiedMatching MONDO:0006594 pemphigus skos:exactMatch DOID:9182 pemphigus semapv:UnspecifiedMatching MONDO:0006594 pemphigus skos:exactMatch ICD10CM:L10 Pemphigus semapv:UnspecifiedMatching MONDO:0006594 pemphigus skos:exactMatch NCIT:C34909 Pemphigus semapv:UnspecifiedMatching MONDO:0006594 pemphigus skos:exactMatch SCTID:65172003 semapv:UnspecifiedMatching MONDO:0006594 pemphigus skos:exactMatch UMLS:C0030807 semapv:UnspecifiedMatching MONDO:0006594 pemphigus skos:exactMatch mesh:D010392 semapv:UnspecifiedMatching MONDO:0006595 perinatal jaundice due to hepatocellular damage skos:exactMatch DOID:11452 perinatal jaundice due to hepatocellular damage semapv:UnspecifiedMatching MONDO:0006595 perinatal jaundice due to hepatocellular damage skos:exactMatch SCTID:10877007 semapv:UnspecifiedMatching MONDO:0006595 perinatal jaundice due to hepatocellular damage skos:exactMatch UMLS:C0158976 semapv:UnspecifiedMatching MONDO:0006596 photoallergic dermatitis skos:exactMatch DOID:3818 photoallergic dermatitis semapv:UnspecifiedMatching MONDO:0006596 photoallergic dermatitis skos:exactMatch SCTID:111209006 semapv:UnspecifiedMatching MONDO:0006596 photoallergic dermatitis skos:exactMatch UMLS:C0162824 semapv:UnspecifiedMatching MONDO:0006596 photoallergic dermatitis skos:exactMatch mesh:D017454 semapv:UnspecifiedMatching MONDO:0006597 photosensitivity disease skos:exactMatch DOID:3159 photosensitivity disease semapv:UnspecifiedMatching MONDO:0006597 photosensitivity disease skos:exactMatch SCTID:22649008 semapv:UnspecifiedMatching MONDO:0006597 photosensitivity disease skos:exactMatch UMLS:C0031762 semapv:UnspecifiedMatching MONDO:0006597 photosensitivity disease skos:exactMatch mesh:D010787 semapv:UnspecifiedMatching MONDO:0006598 phototoxic dermatitis skos:exactMatch DOID:4407 phototoxic dermatitis semapv:UnspecifiedMatching MONDO:0006598 phototoxic dermatitis skos:exactMatch NCIT:C4816 Photosensitive Dermatitis semapv:UnspecifiedMatching MONDO:0006598 phototoxic dermatitis skos:exactMatch SCTID:53597009 semapv:UnspecifiedMatching MONDO:0006598 phototoxic dermatitis skos:exactMatch UMLS:C0162830 semapv:UnspecifiedMatching MONDO:0006598 phototoxic dermatitis skos:exactMatch mesh:D017484 semapv:UnspecifiedMatching MONDO:0006599 physical urticaria skos:exactMatch DOID:0060220 physical urticaria semapv:UnspecifiedMatching MONDO:0006599 physical urticaria skos:exactMatch SCTID:402601007 semapv:UnspecifiedMatching MONDO:0006600 obsolete pigmentation disease skos:exactMatch SCTID:414032001 semapv:UnspecifiedMatching MONDO:0006601 pityriasis rosea skos:exactMatch DOID:8892 pityriasis rosea semapv:UnspecifiedMatching MONDO:0006601 pityriasis rosea skos:exactMatch ICD10CM:L42 Pityriasis rosea semapv:UnspecifiedMatching MONDO:0006601 pityriasis rosea skos:exactMatch NCIT:C26855 Pityriasis Rosea semapv:UnspecifiedMatching MONDO:0006601 pityriasis rosea skos:exactMatch SCTID:77252004 semapv:UnspecifiedMatching MONDO:0006601 pityriasis rosea skos:exactMatch UMLS:C0032026 semapv:UnspecifiedMatching MONDO:0006601 pityriasis rosea skos:exactMatch mesh:D017515 semapv:UnspecifiedMatching MONDO:0006602 porokeratosis skos:exactMatch DOID:3805 porokeratosis semapv:UnspecifiedMatching MONDO:0006602 porokeratosis skos:exactMatch NCIT:C85019 Porokeratosis semapv:UnspecifiedMatching MONDO:0006602 porokeratosis skos:exactMatch OMIMPS:175800 semapv:UnspecifiedMatching MONDO:0006602 porokeratosis skos:exactMatch Orphanet:79358 Porokeratosis semapv:UnspecifiedMatching MONDO:0006602 porokeratosis skos:exactMatch SCTID:400080004 semapv:UnspecifiedMatching MONDO:0006602 porokeratosis skos:exactMatch UMLS:C0162839 semapv:UnspecifiedMatching MONDO:0006602 porokeratosis skos:exactMatch mesh:D017499 semapv:UnspecifiedMatching MONDO:0006603 reactive cutaneous fibrous lesion skos:exactMatch DOID:2053 reactive cutaneous fibrous lesion semapv:UnspecifiedMatching MONDO:0006603 reactive cutaneous fibrous lesion skos:exactMatch NCIT:C27549 Reactive Cutaneous Fibrous Lesion semapv:UnspecifiedMatching MONDO:0006603 reactive cutaneous fibrous lesion skos:exactMatch UMLS:C1335666 semapv:UnspecifiedMatching MONDO:0006604 rosacea skos:exactMatch DOID:8881 rosacea semapv:UnspecifiedMatching MONDO:0006604 rosacea skos:exactMatch ICD10CM:L71 Rosacea semapv:UnspecifiedMatching MONDO:0006604 rosacea skos:exactMatch NCIT:C97136 Rosacea semapv:UnspecifiedMatching MONDO:0006604 rosacea skos:exactMatch SCTID:398909004 semapv:UnspecifiedMatching MONDO:0006604 rosacea skos:exactMatch UMLS:C0035854 semapv:UnspecifiedMatching MONDO:0006604 rosacea skos:exactMatch mesh:D012393 semapv:UnspecifiedMatching MONDO:0006605 scalp dermatosis skos:exactMatch DOID:3136 scalp dermatosis semapv:UnspecifiedMatching MONDO:0006605 scalp dermatosis skos:exactMatch SCTID:402694007 semapv:UnspecifiedMatching MONDO:0006605 scalp dermatosis skos:exactMatch UMLS:C0036271 semapv:UnspecifiedMatching MONDO:0006605 scalp dermatosis skos:exactMatch mesh:D012536 semapv:UnspecifiedMatching MONDO:0006606 scleredema adultorum skos:exactMatch DOID:3140 scleredema adultorum semapv:UnspecifiedMatching MONDO:0006606 scleredema adultorum skos:exactMatch NCIT:C85057 Scleredema Adultorum semapv:UnspecifiedMatching MONDO:0006606 scleredema adultorum skos:exactMatch Orphanet:352763 Scleredema semapv:UnspecifiedMatching MONDO:0006606 scleredema adultorum skos:exactMatch SCTID:95323007 semapv:UnspecifiedMatching MONDO:0006606 scleredema adultorum skos:exactMatch UMLS:C0036413 semapv:UnspecifiedMatching MONDO:0006606 scleredema adultorum skos:exactMatch mesh:D012592 semapv:UnspecifiedMatching MONDO:0006607 sebaceous gland disorder skos:exactMatch DOID:9098 sebaceous gland disease semapv:UnspecifiedMatching MONDO:0006607 sebaceous gland disorder skos:exactMatch SCTID:3441005 semapv:UnspecifiedMatching MONDO:0006607 sebaceous gland disorder skos:exactMatch UMLS:C0036502 semapv:UnspecifiedMatching MONDO:0006607 sebaceous gland disorder skos:exactMatch mesh:D012625 semapv:UnspecifiedMatching MONDO:0006608 seborrheic dermatitis skos:exactMatch DOID:8741 seborrheic dermatitis semapv:UnspecifiedMatching MONDO:0006608 seborrheic dermatitis skos:exactMatch NCIT:C111888 Seborrheic Dermatitis semapv:UnspecifiedMatching MONDO:0006608 seborrheic dermatitis skos:exactMatch UMLS:C0036508 semapv:UnspecifiedMatching MONDO:0006608 seborrheic dermatitis skos:exactMatch mesh:D012628 semapv:UnspecifiedMatching MONDO:0006609 seborrheic infantile dermatitis skos:exactMatch DOID:8941 seborrheic infantile dermatitis semapv:UnspecifiedMatching MONDO:0006610 skin atrophy skos:exactMatch DOID:2733 skin atrophy semapv:UnspecifiedMatching MONDO:0006610 skin atrophy skos:exactMatch NCIT:C35163 Skin Atrophy semapv:UnspecifiedMatching MONDO:0006610 skin atrophy skos:exactMatch SCTID:400190005 semapv:UnspecifiedMatching MONDO:0006610 skin atrophy skos:exactMatch UMLS:C0151514 semapv:UnspecifiedMatching MONDO:0006611 skin sarcoidosis skos:exactMatch DOID:13402 skin sarcoidosis semapv:UnspecifiedMatching MONDO:0006611 skin sarcoidosis skos:exactMatch ICD10CM:D86.3 Sarcoidosis of skin semapv:UnspecifiedMatching MONDO:0006611 skin sarcoidosis skos:exactMatch NCIT:C34996 Cutaneous Sarcoidosis semapv:UnspecifiedMatching MONDO:0006611 skin sarcoidosis skos:exactMatch SCTID:55941000 semapv:UnspecifiedMatching MONDO:0006611 skin sarcoidosis skos:exactMatch UMLS:C0036203 semapv:UnspecifiedMatching MONDO:0006612 steroid lipomatosis skos:exactMatch DOID:3925 steroid lipomatosis semapv:UnspecifiedMatching MONDO:0006612 steroid lipomatosis skos:exactMatch NCIT:C27487 Steroid Lipomatosis semapv:UnspecifiedMatching MONDO:0006612 steroid lipomatosis skos:exactMatch UMLS:C1336506 semapv:UnspecifiedMatching MONDO:0006613 stromal corneal pigmentation skos:exactMatch DOID:12311 stromal corneal pigmentation semapv:UnspecifiedMatching MONDO:0006613 stromal corneal pigmentation skos:exactMatch SCTID:55031000 semapv:UnspecifiedMatching MONDO:0006613 stromal corneal pigmentation skos:exactMatch UMLS:C0155105 semapv:UnspecifiedMatching MONDO:0006614 subcorneal pustular dermatosis skos:exactMatch DOID:8508 subcorneal pustular dermatosis semapv:UnspecifiedMatching MONDO:0006614 subcorneal pustular dermatosis skos:exactMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:UnspecifiedMatching MONDO:0006614 subcorneal pustular dermatosis skos:exactMatch SCTID:25147002 semapv:UnspecifiedMatching MONDO:0006614 subcorneal pustular dermatosis skos:exactMatch UMLS:C0600336 semapv:UnspecifiedMatching MONDO:0006615 sweat gland disorder skos:exactMatch DOID:1383 sweat gland disease semapv:UnspecifiedMatching MONDO:0006615 sweat gland disorder skos:exactMatch SCTID:88232005 semapv:UnspecifiedMatching MONDO:0006615 sweat gland disorder skos:exactMatch UMLS:C0262643 semapv:UnspecifiedMatching MONDO:0006615 sweat gland disorder skos:exactMatch mesh:D013543 semapv:UnspecifiedMatching MONDO:0006616 toxicodendron dermatitis skos:exactMatch DOID:3819 toxicodendron dermatitis semapv:UnspecifiedMatching MONDO:0006616 toxicodendron dermatitis skos:exactMatch SCTID:410049000 semapv:UnspecifiedMatching MONDO:0006616 toxicodendron dermatitis skos:exactMatch UMLS:C0032342 semapv:UnspecifiedMatching MONDO:0006616 toxicodendron dermatitis skos:exactMatch mesh:D011040 semapv:UnspecifiedMatching MONDO:0006617 vesiculobullous skin disease skos:exactMatch DOID:2731 vesiculobullous skin disease semapv:UnspecifiedMatching MONDO:0006617 vesiculobullous skin disease skos:exactMatch UMLS:C0037275 semapv:UnspecifiedMatching MONDO:0006617 vesiculobullous skin disease skos:exactMatch mesh:D012872 semapv:UnspecifiedMatching MONDO:0006618 vibratory urticaria skos:exactMatch DOID:1554 vibratory urticaria semapv:UnspecifiedMatching MONDO:0006618 vibratory urticaria skos:exactMatch ICD10CM:L50.4 Vibratory urticaria semapv:UnspecifiedMatching MONDO:0006618 vibratory urticaria skos:exactMatch SCTID:51247001 semapv:UnspecifiedMatching MONDO:0006618 vibratory urticaria skos:exactMatch UMLS:C0157743 semapv:UnspecifiedMatching MONDO:0006619 viral exanthem skos:exactMatch DOID:8672 viral exanthem semapv:UnspecifiedMatching MONDO:0006619 viral exanthem skos:exactMatch SCTID:49882001 semapv:UnspecifiedMatching MONDO:0006619 viral exanthem skos:exactMatch UMLS:C0153062 semapv:UnspecifiedMatching MONDO:0006620 vulva fibroepithelial polyp skos:exactMatch DOID:8255 vulva fibroepithelial polyp semapv:UnspecifiedMatching MONDO:0006620 vulva fibroepithelial polyp skos:exactMatch NCIT:C6857 Vulvar Fibroepithelial Stromal Polyp semapv:UnspecifiedMatching MONDO:0006620 vulva fibroepithelial polyp skos:exactMatch UMLS:C1336978 semapv:UnspecifiedMatching MONDO:0006621 vulvar inverted follicular keratosis skos:exactMatch DOID:6943 vulvar inverted follicular keratosis semapv:UnspecifiedMatching MONDO:0006621 vulvar inverted follicular keratosis skos:exactMatch NCIT:C40291 Vulvar Inverted Follicular Keratosis semapv:UnspecifiedMatching MONDO:0006621 vulvar inverted follicular keratosis skos:exactMatch UMLS:C1520084 semapv:UnspecifiedMatching MONDO:0006622 vulvar seborrheic keratosis skos:exactMatch DOID:6944 vulvar seborrheic keratosis semapv:UnspecifiedMatching MONDO:0006622 vulvar seborrheic keratosis skos:exactMatch NCIT:C6375 Vulvar Seborrheic Keratosis semapv:UnspecifiedMatching MONDO:0006622 vulvar seborrheic keratosis skos:exactMatch UMLS:C1336981 semapv:UnspecifiedMatching MONDO:0006624 overactive bladder skos:exactMatch DOID:0070355 overactive bladder syndrome semapv:UnspecifiedMatching MONDO:0006624 overactive bladder skos:exactMatch SCTID:236633002 semapv:UnspecifiedMatching MONDO:0006624 overactive bladder skos:exactMatch mesh:D053201 semapv:UnspecifiedMatching MONDO:0006625 altitude sickness skos:exactMatch mesh:D000532 semapv:UnspecifiedMatching MONDO:0006626 diabetic neuropathy skos:exactMatch DOID:9743 diabetic neuropathy semapv:UnspecifiedMatching MONDO:0006626 diabetic neuropathy skos:exactMatch NCIT:C26748 Diabetic Neuropathy semapv:UnspecifiedMatching MONDO:0006626 diabetic neuropathy skos:exactMatch SCTID:230572002 semapv:UnspecifiedMatching MONDO:0006626 diabetic neuropathy skos:exactMatch UMLS:C0011882 semapv:UnspecifiedMatching MONDO:0006626 diabetic neuropathy skos:exactMatch mesh:D003929 semapv:UnspecifiedMatching MONDO:0006629 osteoarthritis, hip skos:exactMatch NCIT:C34876 Hip Osteoarthritis semapv:UnspecifiedMatching MONDO:0006629 osteoarthritis, hip skos:exactMatch UMLS:C0029410 semapv:UnspecifiedMatching MONDO:0006629 osteoarthritis, hip skos:exactMatch mesh:D015207 semapv:UnspecifiedMatching MONDO:0006630 osteoarthritis, spine skos:exactMatch SCTID:8847002 semapv:UnspecifiedMatching MONDO:0006630 osteoarthritis, spine skos:exactMatch mesh:D055013 semapv:UnspecifiedMatching MONDO:0006633 acalculous cholecystitis skos:exactMatch DOID:2828 acalculous cholecystitis semapv:UnspecifiedMatching MONDO:0006633 acalculous cholecystitis skos:exactMatch NCIT:C35578 Acalculous Cholecystitis semapv:UnspecifiedMatching MONDO:0006633 acalculous cholecystitis skos:exactMatch SCTID:19968009 semapv:UnspecifiedMatching MONDO:0006633 acalculous cholecystitis skos:exactMatch UMLS:C0267841 semapv:UnspecifiedMatching MONDO:0006633 acalculous cholecystitis skos:exactMatch mesh:D042101 semapv:UnspecifiedMatching MONDO:0006634 pituitary gland acidophil adenoma skos:exactMatch DOID:5392 acidophil adenoma semapv:UnspecifiedMatching MONDO:0006634 pituitary gland acidophil adenoma skos:exactMatch NCIT:C6780 Pituitary Gland Acidophil Adenoma semapv:UnspecifiedMatching MONDO:0006634 pituitary gland acidophil adenoma skos:exactMatch UMLS:C0001433 semapv:UnspecifiedMatching MONDO:0006634 pituitary gland acidophil adenoma skos:exactMatch mesh:D000239 semapv:UnspecifiedMatching MONDO:0006635 Acinetobacter infectious disease skos:exactMatch DOID:3091 Acinetobacter infectious disease semapv:UnspecifiedMatching MONDO:0006635 Acinetobacter infectious disease skos:exactMatch UMLS:C0001139 semapv:UnspecifiedMatching MONDO:0006635 Acinetobacter infectious disease skos:exactMatch mesh:D000151 semapv:UnspecifiedMatching MONDO:0006636 Actinobacillus infectious disease skos:exactMatch mesh:D000189 semapv:UnspecifiedMatching MONDO:0006637 acute kidney tubular necrosis skos:exactMatch DOID:12556 acute kidney tubular necrosis semapv:UnspecifiedMatching MONDO:0006637 acute kidney tubular necrosis skos:exactMatch NCIT:C34749 Acute Tubular Necrosis semapv:UnspecifiedMatching MONDO:0006637 acute kidney tubular necrosis skos:exactMatch SCTID:35455006 semapv:UnspecifiedMatching MONDO:0006637 acute kidney tubular necrosis skos:exactMatch UMLS:C0022672 semapv:UnspecifiedMatching MONDO:0006637 acute kidney tubular necrosis skos:exactMatch mesh:D007683 semapv:UnspecifiedMatching MONDO:0006638 acute retinal necrosis syndrome skos:exactMatch DOID:3611 acute retinal necrosis syndrome semapv:UnspecifiedMatching MONDO:0006638 acute retinal necrosis syndrome skos:exactMatch SCTID:231986000 semapv:UnspecifiedMatching MONDO:0006638 acute retinal necrosis syndrome skos:exactMatch UMLS:C0035319 semapv:UnspecifiedMatching MONDO:0006638 acute retinal necrosis syndrome skos:exactMatch mesh:D015882 semapv:UnspecifiedMatching MONDO:0006639 adrenal cortex carcinoma skos:exactMatch DOID:3948 adrenocortical carcinoma semapv:UnspecifiedMatching MONDO:0006639 adrenal cortex carcinoma skos:exactMatch DOID:3959 adrenal cortical adenocarcinoma semapv:UnspecifiedMatching MONDO:0006639 adrenal cortex carcinoma skos:exactMatch DOID:660 adrenal cortex cancer semapv:UnspecifiedMatching MONDO:0006639 adrenal cortex carcinoma skos:exactMatch NCIT:C9325 Adrenal Cortical Carcinoma semapv:UnspecifiedMatching MONDO:0006639 adrenal cortex carcinoma skos:exactMatch Orphanet:1501 Adrenocortical carcinoma semapv:UnspecifiedMatching MONDO:0006639 adrenal cortex carcinoma skos:exactMatch SCTID:255035007 semapv:UnspecifiedMatching MONDO:0006639 adrenal cortex carcinoma skos:exactMatch UMLS:C0206686 semapv:UnspecifiedMatching MONDO:0006640 adrenal gland hyperfunction skos:exactMatch DOID:3947 adrenal gland hyperfunction semapv:UnspecifiedMatching MONDO:0006640 adrenal gland hyperfunction skos:exactMatch SCTID:275437005 semapv:UnspecifiedMatching MONDO:0006640 adrenal gland hyperfunction skos:exactMatch UMLS:C0001622 semapv:UnspecifiedMatching MONDO:0006640 adrenal gland hyperfunction skos:exactMatch mesh:D000308 semapv:UnspecifiedMatching MONDO:0006641 afferent loop syndrome skos:exactMatch DOID:8438 afferent loop syndrome semapv:UnspecifiedMatching MONDO:0006641 afferent loop syndrome skos:exactMatch SCTID:20813000 semapv:UnspecifiedMatching MONDO:0006641 afferent loop syndrome skos:exactMatch UMLS:C0001727 semapv:UnspecifiedMatching MONDO:0006641 afferent loop syndrome skos:exactMatch mesh:D000343 semapv:UnspecifiedMatching MONDO:0006642 alcohol withdrawal delirium skos:exactMatch SCTID:8635005 semapv:UnspecifiedMatching MONDO:0006642 alcohol withdrawal delirium skos:exactMatch mesh:D000430 semapv:UnspecifiedMatching MONDO:0006643 alcoholic cardiomyopathy skos:exactMatch DOID:12935 alcoholic cardiomyopathy semapv:UnspecifiedMatching MONDO:0006643 alcoholic cardiomyopathy skos:exactMatch ICD10CM:I42.6 Alcoholic cardiomyopathy semapv:UnspecifiedMatching MONDO:0006643 alcoholic cardiomyopathy skos:exactMatch NCIT:C53653 Alcoholic Cardiomyopathy semapv:UnspecifiedMatching MONDO:0006643 alcoholic cardiomyopathy skos:exactMatch SCTID:83521008 semapv:UnspecifiedMatching MONDO:0006643 alcoholic cardiomyopathy skos:exactMatch UMLS:C0007192 semapv:UnspecifiedMatching MONDO:0006643 alcoholic cardiomyopathy skos:exactMatch mesh:D002310 semapv:UnspecifiedMatching MONDO:0006644 alcoholic liver cirrhosis skos:exactMatch DOID:14018 alcoholic liver cirrhosis semapv:UnspecifiedMatching MONDO:0006644 alcoholic liver cirrhosis skos:exactMatch ICD10CM:K70.3 Alcoholic cirrhosis of liver semapv:UnspecifiedMatching MONDO:0006644 alcoholic liver cirrhosis skos:exactMatch NCIT:C34782 Alcoholic Cirrhosis semapv:UnspecifiedMatching MONDO:0006644 alcoholic liver cirrhosis skos:exactMatch SCTID:419728003 semapv:UnspecifiedMatching MONDO:0006644 alcoholic liver cirrhosis skos:exactMatch UMLS:C0023891 semapv:UnspecifiedMatching MONDO:0006644 alcoholic liver cirrhosis skos:exactMatch UMLS:C1622502 semapv:UnspecifiedMatching MONDO:0006644 alcoholic liver cirrhosis skos:exactMatch mesh:D008104 semapv:UnspecifiedMatching MONDO:0006645 alcoholic polyneuropathy skos:exactMatch DOID:14183 alcoholic neuropathy semapv:UnspecifiedMatching MONDO:0006645 alcoholic polyneuropathy skos:exactMatch ICD10CM:G62.1 Alcoholic polyneuropathy semapv:UnspecifiedMatching MONDO:0006645 alcoholic polyneuropathy skos:exactMatch NCIT:C26926 Alcoholic Polyneuropathy semapv:UnspecifiedMatching MONDO:0006645 alcoholic polyneuropathy skos:exactMatch SCTID:7916009 semapv:UnspecifiedMatching MONDO:0006645 alcoholic polyneuropathy skos:exactMatch UMLS:C0085677 semapv:UnspecifiedMatching MONDO:0006645 alcoholic polyneuropathy skos:exactMatch mesh:D020269 semapv:UnspecifiedMatching MONDO:0006646 angioleiomyoma skos:exactMatch DOID:4265 angiomyoma semapv:UnspecifiedMatching MONDO:0006646 angioleiomyoma skos:exactMatch NCIT:C3747 Angioleiomyoma semapv:UnspecifiedMatching MONDO:0006646 angioleiomyoma skos:exactMatch UMLS:C0206653 semapv:UnspecifiedMatching MONDO:0006646 angioleiomyoma skos:exactMatch mesh:D018229 semapv:UnspecifiedMatching MONDO:0006647 anterior cerebral artery infarction skos:exactMatch DOID:3528 anterior cerebral artery infarction semapv:UnspecifiedMatching MONDO:0006647 anterior cerebral artery infarction skos:exactMatch UMLS:C0751843 semapv:UnspecifiedMatching MONDO:0006647 anterior cerebral artery infarction skos:exactMatch mesh:D020243 semapv:UnspecifiedMatching MONDO:0006648 anterior compartment of tibia syndrome skos:exactMatch DOID:3933 anterior compartment syndrome semapv:UnspecifiedMatching MONDO:0006648 anterior compartment of tibia syndrome skos:exactMatch SCTID:12694001 semapv:UnspecifiedMatching MONDO:0006648 anterior compartment of tibia syndrome skos:exactMatch UMLS:C0003152 semapv:UnspecifiedMatching MONDO:0006648 anterior compartment of tibia syndrome skos:exactMatch mesh:D000868 semapv:UnspecifiedMatching MONDO:0006649 anterior ischemic optic neuropathy skos:exactMatch DOID:12010 anterior ischemic optic neuropathy semapv:UnspecifiedMatching MONDO:0006649 anterior ischemic optic neuropathy skos:exactMatch SCTID:404659001 semapv:UnspecifiedMatching MONDO:0006649 anterior ischemic optic neuropathy skos:exactMatch UMLS:C0751711 semapv:UnspecifiedMatching MONDO:0006649 anterior ischemic optic neuropathy skos:exactMatch mesh:D018917 semapv:UnspecifiedMatching MONDO:0006650 anterior spinal artery syndrome skos:exactMatch DOID:6712 anterior spinal artery syndrome semapv:UnspecifiedMatching MONDO:0006650 anterior spinal artery syndrome skos:exactMatch SCTID:2972007 semapv:UnspecifiedMatching MONDO:0006650 anterior spinal artery syndrome skos:exactMatch UMLS:C0221069 semapv:UnspecifiedMatching MONDO:0006650 anterior spinal artery syndrome skos:exactMatch mesh:D020759 semapv:UnspecifiedMatching MONDO:0006651 anterior uveitis skos:exactMatch DOID:1407 anterior uveitis semapv:UnspecifiedMatching MONDO:0006651 anterior uveitis skos:exactMatch NCIT:C35109 Anterior Uveitis semapv:UnspecifiedMatching MONDO:0006651 anterior uveitis skos:exactMatch Orphanet:280886 Anterior uveitis semapv:UnspecifiedMatching MONDO:0006651 anterior uveitis skos:exactMatch SCTID:410692006 semapv:UnspecifiedMatching MONDO:0006651 anterior uveitis skos:exactMatch UMLS:C0042165 semapv:UnspecifiedMatching MONDO:0006651 anterior uveitis skos:exactMatch mesh:D014606 semapv:UnspecifiedMatching MONDO:0006652 anterolateral myocardial infarction skos:exactMatch DOID:5845 anterolateral myocardial infarction semapv:UnspecifiedMatching MONDO:0006652 anterolateral myocardial infarction skos:exactMatch UMLS:C0262564 semapv:UnspecifiedMatching MONDO:0006652 anterolateral myocardial infarction skos:exactMatch mesh:D056988 semapv:UnspecifiedMatching MONDO:0006653 anthracosilicosis skos:exactMatch DOID:10324 anthracosilicosis semapv:UnspecifiedMatching MONDO:0006653 anthracosilicosis skos:exactMatch NCIT:C34389 Anthracosilicosis semapv:UnspecifiedMatching MONDO:0006653 anthracosilicosis skos:exactMatch SCTID:33548005 semapv:UnspecifiedMatching MONDO:0006653 anthracosilicosis skos:exactMatch UMLS:C0003164 semapv:UnspecifiedMatching MONDO:0006653 anthracosilicosis skos:exactMatch mesh:D000874 semapv:UnspecifiedMatching MONDO:0006654 anthracosis skos:exactMatch DOID:10327 anthracosis semapv:UnspecifiedMatching MONDO:0006654 anthracosis skos:exactMatch NCIT:C34390 Anthracosis semapv:UnspecifiedMatching MONDO:0006654 anthracosis skos:exactMatch SCTID:29422001 semapv:UnspecifiedMatching MONDO:0006654 anthracosis skos:exactMatch UMLS:C0003165 semapv:UnspecifiedMatching MONDO:0006654 anthracosis skos:exactMatch mesh:D055008 semapv:UnspecifiedMatching MONDO:0006655 aortic valve prolapse skos:exactMatch DOID:5232 aortic valve prolapse semapv:UnspecifiedMatching MONDO:0006655 aortic valve prolapse skos:exactMatch UMLS:C0003505 semapv:UnspecifiedMatching MONDO:0006655 aortic valve prolapse skos:exactMatch mesh:D001023 semapv:UnspecifiedMatching MONDO:0006656 aortitis skos:exactMatch DOID:519 aortitis semapv:UnspecifiedMatching MONDO:0006656 aortitis skos:exactMatch NCIT:C97085 Aortitis semapv:UnspecifiedMatching MONDO:0006656 aortitis skos:exactMatch SCTID:70933002 semapv:UnspecifiedMatching MONDO:0006656 aortitis skos:exactMatch UMLS:C0003509 semapv:UnspecifiedMatching MONDO:0006656 aortitis skos:exactMatch mesh:D001025 semapv:UnspecifiedMatching MONDO:0006658 arteriolosclerosis skos:exactMatch DOID:5162 arteriolosclerosis semapv:UnspecifiedMatching MONDO:0006658 arteriolosclerosis skos:exactMatch NCIT:C35543 Arteriolosclerosis semapv:UnspecifiedMatching MONDO:0006658 arteriolosclerosis skos:exactMatch UMLS:C0878486 semapv:UnspecifiedMatching MONDO:0006658 arteriolosclerosis skos:exactMatch mesh:D050379 semapv:UnspecifiedMatching MONDO:0006659 arteriosclerosis obliterans skos:exactMatch DOID:5160 arteriosclerosis obliterans semapv:UnspecifiedMatching MONDO:0006659 arteriosclerosis obliterans skos:exactMatch SCTID:361133006 semapv:UnspecifiedMatching MONDO:0006659 arteriosclerosis obliterans skos:exactMatch UMLS:C0003851 semapv:UnspecifiedMatching MONDO:0006659 arteriosclerosis obliterans skos:exactMatch mesh:D001162 semapv:UnspecifiedMatching MONDO:0006660 arthus reaction skos:exactMatch DOID:1556 arthus reaction semapv:UnspecifiedMatching MONDO:0006660 arthus reaction skos:exactMatch NCIT:C34400 Arthus Reaction semapv:UnspecifiedMatching MONDO:0006660 arthus reaction skos:exactMatch SCTID:402413008 semapv:UnspecifiedMatching MONDO:0006660 arthus reaction skos:exactMatch UMLS:C0003907 semapv:UnspecifiedMatching MONDO:0006660 arthus reaction skos:exactMatch mesh:D001183 semapv:UnspecifiedMatching MONDO:0006662 aseptic meningitis skos:exactMatch DOID:12157 aseptic meningitis semapv:UnspecifiedMatching MONDO:0006662 aseptic meningitis skos:exactMatch NCIT:C118299 Aseptic Meningitis semapv:UnspecifiedMatching MONDO:0006662 aseptic meningitis skos:exactMatch SCTID:301770000 semapv:UnspecifiedMatching MONDO:0006662 aseptic meningitis skos:exactMatch UMLS:C0025290 semapv:UnspecifiedMatching MONDO:0006662 aseptic meningitis skos:exactMatch mesh:D008582 semapv:UnspecifiedMatching MONDO:0006663 perinatal asphyxia skos:exactMatch DOID:11088 asphyxia neonatorum semapv:UnspecifiedMatching MONDO:0006663 perinatal asphyxia skos:exactMatch NCIT:C116313 Perinatal Depression semapv:UnspecifiedMatching MONDO:0006663 perinatal asphyxia skos:exactMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:UnspecifiedMatching MONDO:0006663 perinatal asphyxia skos:exactMatch SCTID:28314004 semapv:UnspecifiedMatching MONDO:0006663 perinatal asphyxia skos:exactMatch UMLS:C0004045 semapv:UnspecifiedMatching MONDO:0006663 perinatal asphyxia skos:exactMatch mesh:D001238 semapv:UnspecifiedMatching MONDO:0006664 atrial septal defect skos:exactMatch DOID:1882 atrial heart septal defect semapv:UnspecifiedMatching MONDO:0006664 atrial septal defect skos:exactMatch NCIT:C84473 Atrial Septal Defect semapv:UnspecifiedMatching MONDO:0006664 atrial septal defect skos:exactMatch OMIMPS:108800 semapv:UnspecifiedMatching MONDO:0006664 atrial septal defect skos:exactMatch Orphanet:1478 Interatrial communication semapv:UnspecifiedMatching MONDO:0006664 atrial septal defect skos:exactMatch SCTID:253366007 semapv:UnspecifiedMatching MONDO:0006664 atrial septal defect skos:exactMatch UMLS:C0018817 semapv:UnspecifiedMatching MONDO:0006664 atrial septal defect skos:exactMatch mesh:D006344 semapv:UnspecifiedMatching MONDO:0006665 chronic atrophic gastritis skos:exactMatch DOID:8929 atrophic gastritis semapv:UnspecifiedMatching MONDO:0006665 chronic atrophic gastritis skos:exactMatch ICD10CM:K29.4 Chronic atrophic gastritis semapv:UnspecifiedMatching MONDO:0006665 chronic atrophic gastritis skos:exactMatch NCIT:C7405 Chronic Atrophic Gastritis semapv:UnspecifiedMatching MONDO:0006665 chronic atrophic gastritis skos:exactMatch SCTID:84568007 semapv:UnspecifiedMatching MONDO:0006665 chronic atrophic gastritis skos:exactMatch mesh:D005757 semapv:UnspecifiedMatching MONDO:0006666 atrophy of thyroid skos:exactMatch NCIT:C26942 Thyroid Gland Atrophy semapv:UnspecifiedMatching MONDO:0006666 atrophy of thyroid skos:exactMatch SCTID:190309006 semapv:UnspecifiedMatching MONDO:0006666 atrophy of thyroid skos:exactMatch UMLS:C2981141 semapv:UnspecifiedMatching MONDO:0006668 bacterial conjunctivitis skos:exactMatch DOID:9700 bacterial conjunctivitis semapv:UnspecifiedMatching MONDO:0006668 bacterial conjunctivitis skos:exactMatch NCIT:C53656 Bacterial Conjunctivitis semapv:UnspecifiedMatching MONDO:0006668 bacterial conjunctivitis skos:exactMatch SCTID:243321006 semapv:UnspecifiedMatching MONDO:0006668 bacterial conjunctivitis skos:exactMatch UMLS:C0009768 semapv:UnspecifiedMatching MONDO:0006668 bacterial conjunctivitis skos:exactMatch mesh:D003234 semapv:UnspecifiedMatching MONDO:0006669 bacterial endocarditis skos:exactMatch NCIT:C128359 Bacterial Endocarditis semapv:UnspecifiedMatching MONDO:0006669 bacterial endocarditis skos:exactMatch SCTID:301183007 semapv:UnspecifiedMatching MONDO:0006669 bacterial endocarditis skos:exactMatch UMLS:C0014121 semapv:UnspecifiedMatching MONDO:0006669 bacterial endocarditis skos:exactMatch mesh:D004697 semapv:UnspecifiedMatching MONDO:0006670 bacterial meningitis skos:exactMatch DOID:9470 bacterial meningitis semapv:UnspecifiedMatching MONDO:0006670 bacterial meningitis skos:exactMatch NCIT:C118297 Bacterial Meningitis semapv:UnspecifiedMatching MONDO:0006670 bacterial meningitis skos:exactMatch SCTID:95883001 semapv:UnspecifiedMatching MONDO:0006670 bacterial meningitis skos:exactMatch UMLS:C0085437 semapv:UnspecifiedMatching MONDO:0006670 bacterial meningitis skos:exactMatch mesh:D016920 semapv:UnspecifiedMatching MONDO:0006671 Bacteroides infectious disease skos:exactMatch SCTID:2918000 semapv:UnspecifiedMatching MONDO:0006671 Bacteroides infectious disease skos:exactMatch UMLS:C0004669 semapv:UnspecifiedMatching MONDO:0006671 Bacteroides infectious disease skos:exactMatch mesh:D001442 semapv:UnspecifiedMatching MONDO:0006672 balanitis skos:exactMatch DOID:13033 balanitis semapv:UnspecifiedMatching MONDO:0006672 balanitis skos:exactMatch ICD10CM:N48.1 Balanitis semapv:UnspecifiedMatching MONDO:0006672 balanitis skos:exactMatch ICD10WHO:N48.1 Balanoposthitis semapv:UnspecifiedMatching MONDO:0006672 balanitis skos:exactMatch NCIT:C26705 Balanitis semapv:UnspecifiedMatching MONDO:0006672 balanitis skos:exactMatch SCTID:44882003 semapv:UnspecifiedMatching MONDO:0006672 balanitis skos:exactMatch UMLS:C0004690 semapv:UnspecifiedMatching MONDO:0006672 balanitis skos:exactMatch mesh:D001446 semapv:UnspecifiedMatching MONDO:0006673 pituitary gland basophil adenoma skos:exactMatch DOID:4542 basophil adenoma semapv:UnspecifiedMatching MONDO:0006673 pituitary gland basophil adenoma skos:exactMatch NCIT:C2856 Pituitary Gland Basophil Adenoma semapv:UnspecifiedMatching MONDO:0006673 pituitary gland basophil adenoma skos:exactMatch UMLS:C0001431 semapv:UnspecifiedMatching MONDO:0006673 pituitary gland basophil adenoma skos:exactMatch mesh:D000237 semapv:UnspecifiedMatching MONDO:0006674 obsolete benign fibrous mesothelioma skos:exactMatch DOID:2653 benign fibrous mesothelioma semapv:UnspecifiedMatching MONDO:0006674 obsolete benign fibrous mesothelioma skos:exactMatch UMLS:C0334511 semapv:UnspecifiedMatching MONDO:0006674 obsolete benign fibrous mesothelioma skos:exactMatch mesh:D054363 semapv:UnspecifiedMatching MONDO:0006676 beriberi skos:exactMatch DOID:0070313 thiamine deficiency disease semapv:UnspecifiedMatching MONDO:0006676 beriberi skos:exactMatch DOID:13725 beriberi semapv:UnspecifiedMatching MONDO:0006676 beriberi skos:exactMatch NCIT:C34418 Vitamin B1 Deficiency semapv:UnspecifiedMatching MONDO:0006676 beriberi skos:exactMatch SCTID:36656008 semapv:UnspecifiedMatching MONDO:0006676 beriberi skos:exactMatch UMLS:C0005122 semapv:UnspecifiedMatching MONDO:0006676 beriberi skos:exactMatch mesh:D001602 semapv:UnspecifiedMatching MONDO:0006677 bile reflux skos:exactMatch DOID:12237 bile reflux semapv:UnspecifiedMatching MONDO:0006677 bile reflux skos:exactMatch UMLS:C0005403 semapv:UnspecifiedMatching MONDO:0006677 bile reflux skos:exactMatch mesh:D001655 semapv:UnspecifiedMatching MONDO:0006678 bladder calculus skos:exactMatch DOID:11355 bladder calculus semapv:UnspecifiedMatching MONDO:0006678 bladder calculus skos:exactMatch SCTID:70650003 semapv:UnspecifiedMatching MONDO:0006678 bladder calculus skos:exactMatch UMLS:C0005683 semapv:UnspecifiedMatching MONDO:0006678 bladder calculus skos:exactMatch mesh:D001744 semapv:UnspecifiedMatching MONDO:0006679 bladder neck obstruction skos:exactMatch DOID:13948 bladder neck obstruction semapv:UnspecifiedMatching MONDO:0006679 bladder neck obstruction skos:exactMatch ICD10CM:N32.0 Bladder-neck obstruction semapv:UnspecifiedMatching MONDO:0006679 bladder neck obstruction skos:exactMatch SCTID:399072004 semapv:UnspecifiedMatching MONDO:0006679 bladder neck obstruction skos:exactMatch UMLS:C0005694 semapv:UnspecifiedMatching MONDO:0006679 bladder neck obstruction skos:exactMatch mesh:D001748 semapv:UnspecifiedMatching MONDO:0006680 blue nevus skos:exactMatch NCIT:C3803 Blue Nevus semapv:UnspecifiedMatching MONDO:0006680 blue nevus skos:exactMatch SCTID:254806009 semapv:UnspecifiedMatching MONDO:0006680 blue nevus skos:exactMatch mesh:D018329 semapv:UnspecifiedMatching MONDO:0006681 Borrelia infectious disease skos:exactMatch UMLS:C0006035 semapv:UnspecifiedMatching MONDO:0006681 Borrelia infectious disease skos:exactMatch mesh:D001899 semapv:UnspecifiedMatching MONDO:0006682 brachial plexus neuritis skos:exactMatch DOID:3689 brachial plexus neuritis semapv:UnspecifiedMatching MONDO:0006682 brachial plexus neuritis skos:exactMatch NCIT:C84600 Brachial Plexus Neuritis semapv:UnspecifiedMatching MONDO:0006682 brachial plexus neuritis skos:exactMatch SCTID:72893007 semapv:UnspecifiedMatching MONDO:0006682 brachial plexus neuritis skos:exactMatch mesh:D020968 semapv:UnspecifiedMatching MONDO:0006683 brachial plexus neuropathy skos:exactMatch DOID:3690 brachial plexus neuropathy semapv:UnspecifiedMatching MONDO:0006683 brachial plexus neuropathy skos:exactMatch NCIT:C27194 Brachial Plexopathy semapv:UnspecifiedMatching MONDO:0006683 brachial plexus neuropathy skos:exactMatch SCTID:3548001 semapv:UnspecifiedMatching MONDO:0006683 brachial plexus neuropathy skos:exactMatch UMLS:C0700251 semapv:UnspecifiedMatching MONDO:0006683 brachial plexus neuropathy skos:exactMatch mesh:D020516 semapv:UnspecifiedMatching MONDO:0006684 brain edema skos:exactMatch DOID:4724 brain edema semapv:UnspecifiedMatching MONDO:0006684 brain edema skos:exactMatch SCTID:2032001 semapv:UnspecifiedMatching MONDO:0006684 brain edema skos:exactMatch mesh:D001929 semapv:UnspecifiedMatching MONDO:0006685 brain hypoxia - ischemia skos:exactMatch mesh:D020925 semapv:UnspecifiedMatching MONDO:0006686 brain stem infarction skos:exactMatch DOID:3523 brain stem infarction semapv:UnspecifiedMatching MONDO:0006686 brain stem infarction skos:exactMatch SCTID:95457000 semapv:UnspecifiedMatching MONDO:0006686 brain stem infarction skos:exactMatch UMLS:C0521542 semapv:UnspecifiedMatching MONDO:0006686 brain stem infarction skos:exactMatch mesh:D020526 semapv:UnspecifiedMatching MONDO:0006687 burning mouth syndrome skos:exactMatch DOID:4331 burning mouth syndrome semapv:UnspecifiedMatching MONDO:0006687 burning mouth syndrome skos:exactMatch NCIT:C62545 Burning Mouth Syndrome semapv:UnspecifiedMatching MONDO:0006687 burning mouth syndrome skos:exactMatch Orphanet:353253 Burning mouth syndrome semapv:UnspecifiedMatching MONDO:0006687 burning mouth syndrome skos:exactMatch SCTID:399165002 semapv:UnspecifiedMatching MONDO:0006687 burning mouth syndrome skos:exactMatch UMLS:C0006430 semapv:UnspecifiedMatching MONDO:0006687 burning mouth syndrome skos:exactMatch mesh:D002054 semapv:UnspecifiedMatching MONDO:0006688 byssinosis skos:exactMatch DOID:10323 byssinosis semapv:UnspecifiedMatching MONDO:0006688 byssinosis skos:exactMatch ICD10CM:J66.0 Byssinosis semapv:UnspecifiedMatching MONDO:0006688 byssinosis skos:exactMatch NCIT:C84605 Byssinosis semapv:UnspecifiedMatching MONDO:0006688 byssinosis skos:exactMatch SCTID:13151001 semapv:UnspecifiedMatching MONDO:0006688 byssinosis skos:exactMatch UMLS:C0006542 semapv:UnspecifiedMatching MONDO:0006688 byssinosis skos:exactMatch mesh:D002095 semapv:UnspecifiedMatching MONDO:0006690 carotid artery thrombosis skos:exactMatch DOID:3410 carotid artery thrombosis semapv:UnspecifiedMatching MONDO:0006690 carotid artery thrombosis skos:exactMatch SCTID:86003009 semapv:UnspecifiedMatching MONDO:0006690 carotid artery thrombosis skos:exactMatch UMLS:C0007274 semapv:UnspecifiedMatching MONDO:0006690 carotid artery thrombosis skos:exactMatch mesh:D002341 semapv:UnspecifiedMatching MONDO:0006692 central pontine myelinolysis skos:exactMatch DOID:636 central pontine myelinolysis semapv:UnspecifiedMatching MONDO:0006692 central pontine myelinolysis skos:exactMatch ICD10CM:G37.2 Central pontine myelinolysis semapv:UnspecifiedMatching MONDO:0006692 central pontine myelinolysis skos:exactMatch NCIT:C84623 Central Pontine Myelinolysis semapv:UnspecifiedMatching MONDO:0006692 central pontine myelinolysis skos:exactMatch SCTID:6807001 semapv:UnspecifiedMatching MONDO:0006692 central pontine myelinolysis skos:exactMatch UMLS:C0206083 semapv:UnspecifiedMatching MONDO:0006692 central pontine myelinolysis skos:exactMatch mesh:D017590 semapv:UnspecifiedMatching MONDO:0006693 cerebral arterial disease skos:exactMatch DOID:3527 cerebral arterial disease semapv:UnspecifiedMatching MONDO:0006693 cerebral arterial disease skos:exactMatch UMLS:C0007774 semapv:UnspecifiedMatching MONDO:0006693 cerebral arterial disease skos:exactMatch mesh:D002539 semapv:UnspecifiedMatching MONDO:0006694 cerebral atherosclerosis skos:exactMatch DOID:12720 cerebral atherosclerosis semapv:UnspecifiedMatching MONDO:0006694 cerebral atherosclerosis skos:exactMatch ICD10CM:I67.2 Cerebral atherosclerosis semapv:UnspecifiedMatching MONDO:0006694 cerebral atherosclerosis skos:exactMatch NCIT:C34459 Cerebral Atherosclerosis semapv:UnspecifiedMatching MONDO:0006694 cerebral atherosclerosis skos:exactMatch SCTID:55382008 semapv:UnspecifiedMatching MONDO:0006694 cerebral atherosclerosis skos:exactMatch UMLS:C0007775 semapv:UnspecifiedMatching MONDO:0006696 cervix erosion skos:exactMatch DOID:3456 cervix erosion semapv:UnspecifiedMatching MONDO:0006696 cervix erosion skos:exactMatch SCTID:61253004 semapv:UnspecifiedMatching MONDO:0006696 cervix erosion skos:exactMatch UMLS:C0269189 semapv:UnspecifiedMatching MONDO:0006696 cervix erosion skos:exactMatch mesh:D002579 semapv:UnspecifiedMatching MONDO:0006698 cholecystolithiasis skos:exactMatch DOID:11151 cholecystolithiasis semapv:UnspecifiedMatching MONDO:0006698 cholecystolithiasis skos:exactMatch UMLS:C0947622 semapv:UnspecifiedMatching MONDO:0006698 cholecystolithiasis skos:exactMatch mesh:D041761 semapv:UnspecifiedMatching MONDO:0006699 choledocholithiasis skos:exactMatch DOID:11755 choledocholithiasis semapv:UnspecifiedMatching MONDO:0006699 choledocholithiasis skos:exactMatch UMLS:C0701818 semapv:UnspecifiedMatching MONDO:0006699 choledocholithiasis skos:exactMatch mesh:D042883 semapv:UnspecifiedMatching MONDO:0006700 choroid cancer skos:exactMatch DOID:12759 choroid cancer semapv:UnspecifiedMatching MONDO:0006700 choroid cancer skos:exactMatch NCIT:C3566 Malignant Choroid Neoplasm semapv:UnspecifiedMatching MONDO:0006700 choroid cancer skos:exactMatch SCTID:363466008 semapv:UnspecifiedMatching MONDO:0006700 choroid cancer skos:exactMatch mesh:D002830 semapv:UnspecifiedMatching MONDO:0006701 chromophobe adenoma skos:exactMatch DOID:3828 chromophobe adenoma semapv:UnspecifiedMatching MONDO:0006701 chromophobe adenoma skos:exactMatch NCIT:C2857 Pituitary Gland Chromophobe Adenoma semapv:UnspecifiedMatching MONDO:0006701 chromophobe adenoma skos:exactMatch UMLS:C0001432 semapv:UnspecifiedMatching MONDO:0006701 chromophobe adenoma skos:exactMatch mesh:D000238 semapv:UnspecifiedMatching MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy semapv:UnspecifiedMatching MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch SCTID:128209004 semapv:UnspecifiedMatching MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch mesh:D020277 semapv:UnspecifiedMatching MONDO:0006704 CNS demyelinating autoimmune disease skos:exactMatch mesh:D020278 semapv:UnspecifiedMatching MONDO:0006705 Bacteroidaceae infectious disease skos:exactMatch UMLS:C0085392 semapv:UnspecifiedMatching MONDO:0006705 Bacteroidaceae infectious disease skos:exactMatch mesh:D016866 semapv:UnspecifiedMatching MONDO:0006706 Bifidobacteriales infectious disease skos:exactMatch UMLS:C1136339 semapv:UnspecifiedMatching MONDO:0006706 Bifidobacteriales infectious disease skos:exactMatch mesh:D039941 semapv:UnspecifiedMatching MONDO:0006708 Desulfovibrionaceae infectious disease skos:exactMatch mesh:D045824 semapv:UnspecifiedMatching MONDO:0006709 common bile duct neoplasm skos:exactMatch DOID:4608 common bile duct neoplasm semapv:UnspecifiedMatching MONDO:0006709 common bile duct neoplasm skos:exactMatch SCTID:126857009 semapv:UnspecifiedMatching MONDO:0006709 common bile duct neoplasm skos:exactMatch UMLS:C0009442 semapv:UnspecifiedMatching MONDO:0006709 common bile duct neoplasm skos:exactMatch mesh:D003138 semapv:UnspecifiedMatching MONDO:0006710 complex partial epilepsy skos:exactMatch DOID:12382 complex partial epilepsy semapv:UnspecifiedMatching MONDO:0006710 complex partial epilepsy skos:exactMatch SCTID:407675009 semapv:UnspecifiedMatching MONDO:0006710 complex partial epilepsy skos:exactMatch UMLS:C0085417 semapv:UnspecifiedMatching MONDO:0006710 complex partial epilepsy skos:exactMatch mesh:D017029 semapv:UnspecifiedMatching MONDO:0006711 constrictive pericarditis skos:exactMatch DOID:11481 constrictive pericarditis semapv:UnspecifiedMatching MONDO:0006711 constrictive pericarditis skos:exactMatch NCIT:C78246 Constrictive Pericarditis semapv:UnspecifiedMatching MONDO:0006711 constrictive pericarditis skos:exactMatch SCTID:85598007 semapv:UnspecifiedMatching MONDO:0006711 constrictive pericarditis skos:exactMatch UMLS:C0031048 semapv:UnspecifiedMatching MONDO:0006711 constrictive pericarditis skos:exactMatch mesh:D010494 semapv:UnspecifiedMatching MONDO:0006712 corneal edema skos:exactMatch DOID:11030 corneal edema semapv:UnspecifiedMatching MONDO:0006712 corneal edema skos:exactMatch SCTID:27194006 semapv:UnspecifiedMatching MONDO:0006712 corneal edema skos:exactMatch UMLS:C0010037 semapv:UnspecifiedMatching MONDO:0006712 corneal edema skos:exactMatch mesh:D015715 semapv:UnspecifiedMatching MONDO:0006713 corneal neovascularization skos:exactMatch DOID:11382 corneal neovascularization semapv:UnspecifiedMatching MONDO:0006713 corneal neovascularization skos:exactMatch SCTID:19161004 semapv:UnspecifiedMatching MONDO:0006713 corneal neovascularization skos:exactMatch UMLS:C0085109 semapv:UnspecifiedMatching MONDO:0006713 corneal neovascularization skos:exactMatch mesh:D016510 semapv:UnspecifiedMatching MONDO:0006714 coronary aneurysm skos:exactMatch DOID:3362 coronary aneurysm semapv:UnspecifiedMatching MONDO:0006714 coronary aneurysm skos:exactMatch SCTID:50570003 semapv:UnspecifiedMatching MONDO:0006714 coronary aneurysm skos:exactMatch UMLS:C0010051 semapv:UnspecifiedMatching MONDO:0006714 coronary aneurysm skos:exactMatch mesh:D003323 semapv:UnspecifiedMatching MONDO:0006715 coronary stenosis skos:exactMatch DOID:4248 coronary stenosis semapv:UnspecifiedMatching MONDO:0006715 coronary stenosis skos:exactMatch SCTID:233970002 semapv:UnspecifiedMatching MONDO:0006715 coronary stenosis skos:exactMatch UMLS:C0242231 semapv:UnspecifiedMatching MONDO:0006715 coronary stenosis skos:exactMatch mesh:D023921 semapv:UnspecifiedMatching MONDO:0006716 coronary thrombosis skos:exactMatch DOID:11847 coronary thrombosis semapv:UnspecifiedMatching MONDO:0006716 coronary thrombosis skos:exactMatch SCTID:398274000 semapv:UnspecifiedMatching MONDO:0006716 coronary thrombosis skos:exactMatch UMLS:C0010072 semapv:UnspecifiedMatching MONDO:0006716 coronary thrombosis skos:exactMatch mesh:D003328 semapv:UnspecifiedMatching MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch DOID:4418 cutaneous fibrous histiocytoma semapv:UnspecifiedMatching MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch NCIT:C6801 Skin Fibrous Histiocytoma semapv:UnspecifiedMatching MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch SCTID:448015002 semapv:UnspecifiedMatching MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch UMLS:C0002991 semapv:UnspecifiedMatching MONDO:0006718 cutaneous syphilis skos:exactMatch mesh:D013591 semapv:UnspecifiedMatching MONDO:0006720 cystic, mucinous, and serous neoplasm skos:exactMatch mesh:D018297 semapv:UnspecifiedMatching MONDO:0006721 de Quervain disease skos:exactMatch DOID:14107 De Quervain disease semapv:UnspecifiedMatching MONDO:0006721 de Quervain disease skos:exactMatch SCTID:21794005 semapv:UnspecifiedMatching MONDO:0006721 de Quervain disease skos:exactMatch UMLS:C0149870 semapv:UnspecifiedMatching MONDO:0006721 de Quervain disease skos:exactMatch mesh:D053684 semapv:UnspecifiedMatching MONDO:0006722 dental fluorosis skos:exactMatch DOID:13711 dental fluorosis semapv:UnspecifiedMatching MONDO:0006722 dental fluorosis skos:exactMatch ICD10CM:K00.3 Mottled teeth semapv:UnspecifiedMatching MONDO:0006722 dental fluorosis skos:exactMatch NCIT:C85059 Dental Fluorosis semapv:UnspecifiedMatching MONDO:0006722 dental fluorosis skos:exactMatch SCTID:30265004 semapv:UnspecifiedMatching MONDO:0006722 dental fluorosis skos:exactMatch UMLS:C0026618 semapv:UnspecifiedMatching MONDO:0006722 dental fluorosis skos:exactMatch mesh:D009050 semapv:UnspecifiedMatching MONDO:0006723 denture stomatitis skos:exactMatch DOID:11875 denture stomatitis semapv:UnspecifiedMatching MONDO:0006723 denture stomatitis skos:exactMatch SCTID:69254008 semapv:UnspecifiedMatching MONDO:0006723 denture stomatitis skos:exactMatch UMLS:C0038364 semapv:UnspecifiedMatching MONDO:0006723 denture stomatitis skos:exactMatch mesh:D013282 semapv:UnspecifiedMatching MONDO:0006726 diaphragmatic eventration skos:exactMatch DOID:10480 diaphragmatic eventration semapv:UnspecifiedMatching MONDO:0006726 diaphragmatic eventration skos:exactMatch NCIT:C98912 Diaphragmatic Eventration semapv:UnspecifiedMatching MONDO:0006726 diaphragmatic eventration skos:exactMatch SCTID:34168003 semapv:UnspecifiedMatching MONDO:0006726 diaphragmatic eventration skos:exactMatch mesh:D003965 semapv:UnspecifiedMatching MONDO:0006727 diastolic heart failure skos:exactMatch DOID:9775 diastolic heart failure semapv:UnspecifiedMatching MONDO:0006727 diastolic heart failure skos:exactMatch SCTID:418304008 semapv:UnspecifiedMatching MONDO:0006727 diastolic heart failure skos:exactMatch UMLS:C1135196 semapv:UnspecifiedMatching MONDO:0006727 diastolic heart failure skos:exactMatch mesh:D054144 semapv:UnspecifiedMatching MONDO:0006728 obsolete discitis skos:exactMatch DOID:10986 discitis semapv:UnspecifiedMatching MONDO:0006728 obsolete discitis skos:exactMatch SCTID:2304001 semapv:UnspecifiedMatching MONDO:0006728 obsolete discitis skos:exactMatch UMLS:C0012624 semapv:UnspecifiedMatching MONDO:0006728 obsolete discitis skos:exactMatch mesh:D015299 semapv:UnspecifiedMatching MONDO:0006729 discrete subaortic stenosis skos:exactMatch DOID:5804 discrete subaortic stenosis semapv:UnspecifiedMatching MONDO:0006729 discrete subaortic stenosis skos:exactMatch UMLS:C0012628 semapv:UnspecifiedMatching MONDO:0006729 discrete subaortic stenosis skos:exactMatch mesh:D021922 semapv:UnspecifiedMatching MONDO:0006730 drug psychosis skos:exactMatch DOID:1742 drug psychosis semapv:UnspecifiedMatching MONDO:0006730 drug psychosis skos:exactMatch SCTID:191483003 semapv:UnspecifiedMatching MONDO:0006730 drug psychosis skos:exactMatch mesh:D011605 semapv:UnspecifiedMatching MONDO:0006731 drug-induced akathisia skos:exactMatch ICD10CM:G25.71 Drug induced akathisia semapv:UnspecifiedMatching MONDO:0006731 drug-induced akathisia skos:exactMatch SCTID:230333002 semapv:UnspecifiedMatching MONDO:0006731 drug-induced akathisia skos:exactMatch mesh:D017109 semapv:UnspecifiedMatching MONDO:0006732 drug-induced dyskinesia skos:exactMatch SCTID:102448004 semapv:UnspecifiedMatching MONDO:0006732 drug-induced dyskinesia skos:exactMatch mesh:D004409 semapv:UnspecifiedMatching MONDO:0006733 dry eye syndrome skos:exactMatch DOID:10140 dry eye syndrome semapv:UnspecifiedMatching MONDO:0006733 dry eye syndrome skos:exactMatch DOID:12895 keratoconjunctivitis sicca semapv:UnspecifiedMatching MONDO:0006733 dry eye syndrome skos:exactMatch NCIT:C34553 Dry Eye Syndrome semapv:UnspecifiedMatching MONDO:0006733 dry eye syndrome skos:exactMatch SCTID:302896008 semapv:UnspecifiedMatching MONDO:0006733 dry eye syndrome skos:exactMatch SCTID:46152009 semapv:UnspecifiedMatching MONDO:0006733 dry eye syndrome skos:exactMatch UMLS:C0013238 semapv:UnspecifiedMatching MONDO:0006733 dry eye syndrome skos:exactMatch mesh:D007638 semapv:UnspecifiedMatching MONDO:0006733 dry eye syndrome skos:exactMatch mesh:D015352 semapv:UnspecifiedMatching MONDO:0006734 benign duodenal neoplasm skos:exactMatch DOID:1737 duodenal benign neoplasm semapv:UnspecifiedMatching MONDO:0006734 benign duodenal neoplasm skos:exactMatch NCIT:C4775 Benign Duodenal Neoplasm semapv:UnspecifiedMatching MONDO:0006734 benign duodenal neoplasm skos:exactMatch SCTID:92080005 semapv:UnspecifiedMatching MONDO:0006735 duodenogastric reflux skos:exactMatch DOID:4071 duodenogastric reflux semapv:UnspecifiedMatching MONDO:0006735 duodenogastric reflux skos:exactMatch UMLS:C0013299 semapv:UnspecifiedMatching MONDO:0006735 duodenogastric reflux skos:exactMatch mesh:D004383 semapv:UnspecifiedMatching MONDO:0006736 dysplasia of cervix skos:exactMatch SCTID:73391008 semapv:UnspecifiedMatching MONDO:0006736 dysplasia of cervix skos:exactMatch UMLS:C0007868 semapv:UnspecifiedMatching MONDO:0006736 dysplasia of cervix skos:exactMatch mesh:D002578 semapv:UnspecifiedMatching MONDO:0006737 dystocia skos:exactMatch mesh:D004420 semapv:UnspecifiedMatching MONDO:0006738 eccrine acrospiroma skos:exactMatch DOID:5442 eccrine acrospiroma semapv:UnspecifiedMatching MONDO:0006738 eccrine acrospiroma skos:exactMatch NCIT:C27273 Poroma semapv:UnspecifiedMatching MONDO:0006738 eccrine acrospiroma skos:exactMatch SCTID:400099008 semapv:UnspecifiedMatching MONDO:0006738 eccrine acrospiroma skos:exactMatch mesh:D018250 semapv:UnspecifiedMatching MONDO:0006739 Ehrlich tumor carcinoma skos:exactMatch DOID:5050 Ehrlich tumor carcinoma semapv:UnspecifiedMatching MONDO:0006739 Ehrlich tumor carcinoma skos:exactMatch UMLS:C0007125 semapv:UnspecifiedMatching MONDO:0006739 Ehrlich tumor carcinoma skos:exactMatch mesh:D002286 semapv:UnspecifiedMatching MONDO:0006740 empty sella syndrome skos:exactMatch DOID:3642 empty sella syndrome semapv:UnspecifiedMatching MONDO:0006740 empty sella syndrome skos:exactMatch NCIT:C84686 Empty Sella Syndrome semapv:UnspecifiedMatching MONDO:0006740 empty sella syndrome skos:exactMatch SCTID:237722004 semapv:UnspecifiedMatching MONDO:0006740 empty sella syndrome skos:exactMatch UMLS:C0014008 semapv:UnspecifiedMatching MONDO:0006740 empty sella syndrome skos:exactMatch mesh:D004652 semapv:UnspecifiedMatching MONDO:0006741 encephalomalacia skos:exactMatch DOID:2034 encephalomalacia semapv:UnspecifiedMatching MONDO:0006741 encephalomalacia skos:exactMatch NCIT:C98920 Encephalomalacia semapv:UnspecifiedMatching MONDO:0006741 encephalomalacia skos:exactMatch SCTID:58762006 semapv:UnspecifiedMatching MONDO:0006741 encephalomalacia skos:exactMatch UMLS:C0014068 semapv:UnspecifiedMatching MONDO:0006741 encephalomalacia skos:exactMatch mesh:D004678 semapv:UnspecifiedMatching MONDO:0006742 endemic goiter skos:exactMatch DOID:13198 endemic goiter semapv:UnspecifiedMatching MONDO:0006742 endemic goiter skos:exactMatch NCIT:C35023 Endemic Goiter semapv:UnspecifiedMatching MONDO:0006742 endemic goiter skos:exactMatch SCTID:56805008 semapv:UnspecifiedMatching MONDO:0006742 endemic goiter skos:exactMatch mesh:D006043 semapv:UnspecifiedMatching MONDO:0006743 endocrine tuberculosis skos:exactMatch UMLS:C0041310 semapv:UnspecifiedMatching MONDO:0006743 endocrine tuberculosis skos:exactMatch mesh:D014383 semapv:UnspecifiedMatching MONDO:0006744 endolymphatic hydrops skos:exactMatch DOID:9848 endolymphatic hydrops semapv:UnspecifiedMatching MONDO:0006744 endolymphatic hydrops skos:exactMatch SCTID:27621000119100 semapv:UnspecifiedMatching MONDO:0006744 endolymphatic hydrops skos:exactMatch UMLS:C0206586 semapv:UnspecifiedMatching MONDO:0006744 endolymphatic hydrops skos:exactMatch mesh:D018159 semapv:UnspecifiedMatching MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch DOID:4226 endometrial stromal sarcoma semapv:UnspecifiedMatching MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch NCIT:C8973 Endometrioid Stromal Sarcoma semapv:UnspecifiedMatching MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch Orphanet:213711 Endometrial stromal sarcoma semapv:UnspecifiedMatching MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch SCTID:699356008 semapv:UnspecifiedMatching MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch UMLS:C0206630 semapv:UnspecifiedMatching MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch mesh:D018203 semapv:UnspecifiedMatching MONDO:0006746 endomyocardial fibrosis skos:exactMatch DOID:12932 endomyocardial fibrosis semapv:UnspecifiedMatching MONDO:0006746 endomyocardial fibrosis skos:exactMatch NCIT:C34585 Endomyocardial Fibrosis semapv:UnspecifiedMatching MONDO:0006746 endomyocardial fibrosis skos:exactMatch mesh:D004719 semapv:UnspecifiedMatching MONDO:0006747 enterotoxemia skos:exactMatch SCTID:370514003 semapv:UnspecifiedMatching MONDO:0006747 enterotoxemia skos:exactMatch UMLS:C0014371 semapv:UnspecifiedMatching MONDO:0006747 enterotoxemia skos:exactMatch mesh:D004767 semapv:UnspecifiedMatching MONDO:0006748 epilepsia partialis continua skos:exactMatch SCTID:241006 semapv:UnspecifiedMatching MONDO:0006748 epilepsia partialis continua skos:exactMatch mesh:D017036 semapv:UnspecifiedMatching MONDO:0006749 mixed epithelioid and spindle cell melanoma skos:exactMatch NCIT:C66756 Mixed Epithelioid and Spindle Cell Melanoma semapv:UnspecifiedMatching MONDO:0006749 mixed epithelioid and spindle cell melanoma skos:exactMatch SCTID:254811006 semapv:UnspecifiedMatching MONDO:0006749 mixed epithelioid and spindle cell melanoma skos:exactMatch mesh:D018332 semapv:UnspecifiedMatching MONDO:0006751 Erysipelothrix infectious disease skos:exactMatch SCTID:367434002 semapv:UnspecifiedMatching MONDO:0006751 Erysipelothrix infectious disease skos:exactMatch UMLS:C0014736 semapv:UnspecifiedMatching MONDO:0006751 Erysipelothrix infectious disease skos:exactMatch mesh:D004889 semapv:UnspecifiedMatching MONDO:0006752 Erysipelothrix rhusiopathiae infectious disease skos:exactMatch DOID:0050061 erysipeloid semapv:UnspecifiedMatching MONDO:0006752 Erysipelothrix rhusiopathiae infectious disease skos:exactMatch ICD10CM:A26 Erysipeloid semapv:UnspecifiedMatching MONDO:0006752 Erysipelothrix rhusiopathiae infectious disease skos:exactMatch SCTID:400105005 semapv:UnspecifiedMatching MONDO:0006752 Erysipelothrix rhusiopathiae infectious disease skos:exactMatch UMLS:C1276801 semapv:UnspecifiedMatching MONDO:0006752 Erysipelothrix rhusiopathiae infectious disease skos:exactMatch mesh:D004887 semapv:UnspecifiedMatching MONDO:0006753 Escherichia coli meningitis skos:exactMatch SCTID:192655005 semapv:UnspecifiedMatching MONDO:0006753 Escherichia coli meningitis skos:exactMatch UMLS:C0338395 semapv:UnspecifiedMatching MONDO:0006753 Escherichia coli meningitis skos:exactMatch mesh:D020814 semapv:UnspecifiedMatching MONDO:0006754 esophageal diverticulosis skos:exactMatch DOID:13185 esophageal diverticulosis semapv:UnspecifiedMatching MONDO:0006754 esophageal diverticulosis skos:exactMatch UMLS:C0917875 semapv:UnspecifiedMatching MONDO:0006754 esophageal diverticulosis skos:exactMatch mesh:D045723 semapv:UnspecifiedMatching MONDO:0006755 euthyroid sick syndrome skos:exactMatch DOID:2856 euthyroid sick syndrome semapv:UnspecifiedMatching MONDO:0006755 euthyroid sick syndrome skos:exactMatch ICD10CM:E07.81 Sick-euthyroid syndrome semapv:UnspecifiedMatching MONDO:0006755 euthyroid sick syndrome skos:exactMatch NCIT:C113170 Sick Euthyroid Syndrome semapv:UnspecifiedMatching MONDO:0006755 euthyroid sick syndrome skos:exactMatch SCTID:237542005 semapv:UnspecifiedMatching MONDO:0006755 euthyroid sick syndrome skos:exactMatch UMLS:C0015190 semapv:UnspecifiedMatching MONDO:0006755 euthyroid sick syndrome skos:exactMatch mesh:D005067 semapv:UnspecifiedMatching MONDO:0006757 extrahepatic cholestasis skos:exactMatch DOID:13619 extrahepatic cholestasis semapv:UnspecifiedMatching MONDO:0006757 extrahepatic cholestasis skos:exactMatch SCTID:8262006 semapv:UnspecifiedMatching MONDO:0006757 extrahepatic cholestasis skos:exactMatch UMLS:C0005398 semapv:UnspecifiedMatching MONDO:0006757 extrahepatic cholestasis skos:exactMatch mesh:D001651 semapv:UnspecifiedMatching MONDO:0006758 female genital tuberculosis skos:exactMatch SCTID:74181004 semapv:UnspecifiedMatching MONDO:0006758 female genital tuberculosis skos:exactMatch mesh:D014384 semapv:UnspecifiedMatching MONDO:0006759 femoral neuropathy skos:exactMatch DOID:4196 femoral neuropathy semapv:UnspecifiedMatching MONDO:0006759 femoral neuropathy skos:exactMatch NCIT:C27595 Femoral Neuropathy semapv:UnspecifiedMatching MONDO:0006759 femoral neuropathy skos:exactMatch SCTID:25690000 semapv:UnspecifiedMatching MONDO:0006759 femoral neuropathy skos:exactMatch UMLS:C0751931 semapv:UnspecifiedMatching MONDO:0006759 femoral neuropathy skos:exactMatch mesh:D020428 semapv:UnspecifiedMatching MONDO:0006760 fetal erythroblastosis skos:exactMatch DOID:1098 fetal erythroblastosis semapv:UnspecifiedMatching MONDO:0006760 fetal erythroblastosis skos:exactMatch NCIT:C101304 Hemolytic Disease of the Newborn semapv:UnspecifiedMatching MONDO:0006760 fetal erythroblastosis skos:exactMatch SCTID:387705004 semapv:UnspecifiedMatching MONDO:0006760 fetal erythroblastosis skos:exactMatch UMLS:C0014761 semapv:UnspecifiedMatching MONDO:0006760 fetal erythroblastosis skos:exactMatch mesh:D004899 semapv:UnspecifiedMatching MONDO:0006761 fibromuscular dysplasia skos:exactMatch NCIT:C84714 Fibromuscular Dysplasia semapv:UnspecifiedMatching MONDO:0006761 fibromuscular dysplasia skos:exactMatch OMIM:135580 fibromuscular dysplasia, arterial semapv:UnspecifiedMatching MONDO:0006761 fibromuscular dysplasia skos:exactMatch mesh:C537929 semapv:UnspecifiedMatching MONDO:0006761 fibromuscular dysplasia skos:exactMatch mesh:D005352 semapv:UnspecifiedMatching MONDO:0006762 freemartinism skos:exactMatch DOID:4671 freemartinism semapv:UnspecifiedMatching MONDO:0006762 freemartinism skos:exactMatch UMLS:C0016697 semapv:UnspecifiedMatching MONDO:0006762 freemartinism skos:exactMatch mesh:D005611 semapv:UnspecifiedMatching MONDO:0006763 frozen shoulder skos:exactMatch DOID:14188 frozen shoulder semapv:UnspecifiedMatching MONDO:0006763 frozen shoulder skos:exactMatch ICD10CM:M75.0 Adhesive capsulitis of shoulder semapv:UnspecifiedMatching MONDO:0006763 frozen shoulder skos:exactMatch SCTID:399114005 semapv:UnspecifiedMatching MONDO:0006763 frozen shoulder skos:exactMatch UMLS:C0311223 semapv:UnspecifiedMatching MONDO:0006764 fungal meningitis skos:exactMatch DOID:11608 fungal meningitis semapv:UnspecifiedMatching MONDO:0006764 fungal meningitis skos:exactMatch SCTID:24321005 semapv:UnspecifiedMatching MONDO:0006764 fungal meningitis skos:exactMatch UMLS:C0085438 semapv:UnspecifiedMatching MONDO:0006764 fungal meningitis skos:exactMatch mesh:D016921 semapv:UnspecifiedMatching MONDO:0006765 Fusobacterium infectious disease skos:exactMatch SCTID:712657002 semapv:UnspecifiedMatching MONDO:0006765 Fusobacterium infectious disease skos:exactMatch UMLS:C4039413 semapv:UnspecifiedMatching MONDO:0006766 gait apraxia skos:exactMatch DOID:4260 gait apraxia semapv:UnspecifiedMatching MONDO:0006766 gait apraxia skos:exactMatch UMLS:C1510417 semapv:UnspecifiedMatching MONDO:0006766 gait apraxia skos:exactMatch mesh:D020235 semapv:UnspecifiedMatching MONDO:0006767 gastric antral vascular ectasia skos:exactMatch DOID:2493 gastric antral vascular ectasia semapv:UnspecifiedMatching MONDO:0006767 gastric antral vascular ectasia skos:exactMatch NCIT:C84724 Gastric Antral Vascular Ectasia semapv:UnspecifiedMatching MONDO:0006767 gastric antral vascular ectasia skos:exactMatch SCTID:43935004 semapv:UnspecifiedMatching MONDO:0006767 gastric antral vascular ectasia skos:exactMatch mesh:D020252 semapv:UnspecifiedMatching MONDO:0006769 gastroparesis skos:exactMatch DOID:11914 gastroparesis semapv:UnspecifiedMatching MONDO:0006769 gastroparesis skos:exactMatch ICD10CM:K31.84 Gastroparesis semapv:UnspecifiedMatching MONDO:0006769 gastroparesis skos:exactMatch SCTID:196753007 semapv:UnspecifiedMatching MONDO:0006769 gastroparesis skos:exactMatch UMLS:C0152020 semapv:UnspecifiedMatching MONDO:0006769 gastroparesis skos:exactMatch mesh:D018589 semapv:UnspecifiedMatching MONDO:0006770 giant cell reparative granuloma skos:exactMatch DOID:1866 giant cell reparative granuloma semapv:UnspecifiedMatching MONDO:0006770 giant cell reparative granuloma skos:exactMatch NCIT:C121893 Giant Cell Lesion of Small Bones semapv:UnspecifiedMatching MONDO:0006770 giant cell reparative granuloma skos:exactMatch SCTID:15350006 semapv:UnspecifiedMatching MONDO:0006770 giant cell reparative granuloma skos:exactMatch UMLS:C0162375 semapv:UnspecifiedMatching MONDO:0006770 giant cell reparative granuloma skos:exactMatch mesh:D006101 semapv:UnspecifiedMatching MONDO:0006771 glossitis skos:exactMatch DOID:1456 glossitis semapv:UnspecifiedMatching MONDO:0006771 glossitis skos:exactMatch ICD10CM:K14.0 Glossitis semapv:UnspecifiedMatching MONDO:0006771 glossitis skos:exactMatch SCTID:45534005 semapv:UnspecifiedMatching MONDO:0006771 glossitis skos:exactMatch UMLS:C0017675 semapv:UnspecifiedMatching MONDO:0006771 glossitis skos:exactMatch mesh:D005928 semapv:UnspecifiedMatching MONDO:0006773 gonadal tissue neoplasm skos:exactMatch UMLS:C0206722 semapv:UnspecifiedMatching MONDO:0006773 gonadal tissue neoplasm skos:exactMatch mesh:D018309 semapv:UnspecifiedMatching MONDO:0006774 habitual spontaneous abortion skos:exactMatch SCTID:102878001 semapv:UnspecifiedMatching MONDO:0006774 habitual spontaneous abortion skos:exactMatch mesh:D000026 semapv:UnspecifiedMatching MONDO:0006777 hairy tongue skos:exactMatch DOID:13500 hairy tongue semapv:UnspecifiedMatching MONDO:0006777 hairy tongue skos:exactMatch NCIT:C35075 Hairy Tongue semapv:UnspecifiedMatching MONDO:0006777 hairy tongue skos:exactMatch SCTID:255225007 semapv:UnspecifiedMatching MONDO:0006777 hairy tongue skos:exactMatch UMLS:C0040414 semapv:UnspecifiedMatching MONDO:0006777 hairy tongue skos:exactMatch mesh:D014064 semapv:UnspecifiedMatching MONDO:0006778 halo nevus skos:exactMatch NCIT:C7602 Halo Nevus semapv:UnspecifiedMatching MONDO:0006778 halo nevus skos:exactMatch SCTID:398028009 semapv:UnspecifiedMatching MONDO:0006778 halo nevus skos:exactMatch UMLS:C0474824 semapv:UnspecifiedMatching MONDO:0006778 halo nevus skos:exactMatch mesh:D055882 semapv:UnspecifiedMatching MONDO:0006779 heart aneurysm skos:exactMatch DOID:9768 heart aneurysm semapv:UnspecifiedMatching MONDO:0006779 heart aneurysm skos:exactMatch ICD10CM:I25.3 Aneurysm of heart semapv:UnspecifiedMatching MONDO:0006779 heart aneurysm skos:exactMatch SCTID:65340007 semapv:UnspecifiedMatching MONDO:0006779 heart aneurysm skos:exactMatch UMLS:C0018789 semapv:UnspecifiedMatching MONDO:0006779 heart aneurysm skos:exactMatch mesh:D006322 semapv:UnspecifiedMatching MONDO:0006780 heartwater disease skos:exactMatch UMLS:C0018835 semapv:UnspecifiedMatching MONDO:0006780 heartwater disease skos:exactMatch mesh:D006357 semapv:UnspecifiedMatching MONDO:0006781 Helicobacter pylori infectious disease skos:exactMatch mesh:D016481 semapv:UnspecifiedMatching MONDO:0006782 hemometra skos:exactMatch DOID:9958 hemometra semapv:UnspecifiedMatching MONDO:0006782 hemometra skos:exactMatch ICD10CM:N85.7 Hematometra semapv:UnspecifiedMatching MONDO:0006782 hemometra skos:exactMatch SCTID:38280009 semapv:UnspecifiedMatching MONDO:0006782 hemometra skos:exactMatch mesh:D006409 semapv:UnspecifiedMatching MONDO:0006783 hemopneumothorax skos:exactMatch DOID:2718 hemopneumothorax semapv:UnspecifiedMatching MONDO:0006783 hemopneumothorax skos:exactMatch SCTID:16632002 semapv:UnspecifiedMatching MONDO:0006783 hemopneumothorax skos:exactMatch UMLS:C0019077 semapv:UnspecifiedMatching MONDO:0006783 hemopneumothorax skos:exactMatch mesh:D006468 semapv:UnspecifiedMatching MONDO:0006784 hemorrhagic disease of newborn skos:exactMatch ICD10CM:P53 Hemorrhagic disease of newborn semapv:UnspecifiedMatching MONDO:0006784 hemorrhagic disease of newborn skos:exactMatch NCIT:C111857 Hemorrhagic Disease of Newborn semapv:UnspecifiedMatching MONDO:0006784 hemorrhagic disease of newborn skos:exactMatch SCTID:12546009 semapv:UnspecifiedMatching MONDO:0006784 hemorrhagic disease of newborn skos:exactMatch mesh:D006475 semapv:UnspecifiedMatching MONDO:0006786 hepatic vein thrombosis skos:exactMatch DOID:11512 Budd-Chiari syndrome semapv:UnspecifiedMatching MONDO:0006786 hepatic vein thrombosis skos:exactMatch SCTID:38739001 semapv:UnspecifiedMatching MONDO:0006787 hidrocystoma skos:exactMatch DOID:3893 hidrocystoma semapv:UnspecifiedMatching MONDO:0006787 hidrocystoma skos:exactMatch NCIT:C3760 Hidrocystoma semapv:UnspecifiedMatching MONDO:0006787 hidrocystoma skos:exactMatch SCTID:254725004 semapv:UnspecifiedMatching MONDO:0006787 hidrocystoma skos:exactMatch UMLS:C0206672 semapv:UnspecifiedMatching MONDO:0006787 hidrocystoma skos:exactMatch mesh:D018251 semapv:UnspecifiedMatching MONDO:0006788 hydrophthalmos skos:exactMatch DOID:11212 hydrophthalmos semapv:UnspecifiedMatching MONDO:0006788 hydrophthalmos skos:exactMatch mesh:D006871 semapv:UnspecifiedMatching MONDO:0006789 hyperamylasemia skos:exactMatch mesh:D034321 semapv:UnspecifiedMatching MONDO:0006790 hypercementosis skos:exactMatch DOID:12733 hypercementosis semapv:UnspecifiedMatching MONDO:0006790 hypercementosis skos:exactMatch ICD10CM:K03.4 Hypercementosis semapv:UnspecifiedMatching MONDO:0006790 hypercementosis skos:exactMatch SCTID:78537008 semapv:UnspecifiedMatching MONDO:0006790 hypercementosis skos:exactMatch UMLS:C0020441 semapv:UnspecifiedMatching MONDO:0006790 hypercementosis skos:exactMatch mesh:D006936 semapv:UnspecifiedMatching MONDO:0006791 hyperemesis gravidarum skos:exactMatch SCTID:14094001 semapv:UnspecifiedMatching MONDO:0006791 hyperemesis gravidarum skos:exactMatch mesh:D006939 semapv:UnspecifiedMatching MONDO:0006792 hyperglobulinemic purpura skos:exactMatch DOID:3325 hyperglobulinemic purpura semapv:UnspecifiedMatching MONDO:0006792 hyperglobulinemic purpura skos:exactMatch SCTID:402852007 semapv:UnspecifiedMatching MONDO:0006792 hyperglobulinemic purpura skos:exactMatch UMLS:C0034151 semapv:UnspecifiedMatching MONDO:0006792 hyperglobulinemic purpura skos:exactMatch mesh:D011694 semapv:UnspecifiedMatching MONDO:0006793 hyperpituitarism skos:exactMatch DOID:2444 hyperpituitarism semapv:UnspecifiedMatching MONDO:0006793 hyperpituitarism skos:exactMatch SCTID:10649000 semapv:UnspecifiedMatching MONDO:0006793 hyperpituitarism skos:exactMatch UMLS:C0020506 semapv:UnspecifiedMatching MONDO:0006793 hyperpituitarism skos:exactMatch mesh:D006964 semapv:UnspecifiedMatching MONDO:0006794 hypersensitivity vasculitis skos:exactMatch DOID:9809 hypersensitivity vasculitis semapv:UnspecifiedMatching MONDO:0006794 hypersensitivity vasculitis skos:exactMatch NCIT:C82863 Leukocytoclastic Vasculitis semapv:UnspecifiedMatching MONDO:0006794 hypersensitivity vasculitis skos:exactMatch SCTID:60555002 semapv:UnspecifiedMatching MONDO:0006795 hypersplenism skos:exactMatch DOID:6376 hypersplenism semapv:UnspecifiedMatching MONDO:0006795 hypersplenism skos:exactMatch ICD10CM:D73.1 Hypersplenism semapv:UnspecifiedMatching MONDO:0006795 hypersplenism skos:exactMatch NCIT:C34714 Hypersplenism semapv:UnspecifiedMatching MONDO:0006795 hypersplenism skos:exactMatch SCTID:58381000 semapv:UnspecifiedMatching MONDO:0006795 hypersplenism skos:exactMatch UMLS:C0020532 semapv:UnspecifiedMatching MONDO:0006795 hypersplenism skos:exactMatch mesh:D006971 semapv:UnspecifiedMatching MONDO:0006796 hypertensive encephalopathy skos:exactMatch DOID:9427 hypertensive encephalopathy semapv:UnspecifiedMatching MONDO:0006796 hypertensive encephalopathy skos:exactMatch ICD10CM:I67.4 Hypertensive encephalopathy semapv:UnspecifiedMatching MONDO:0006796 hypertensive encephalopathy skos:exactMatch NCIT:C3503 Hypertensive Encephalopathy semapv:UnspecifiedMatching MONDO:0006796 hypertensive encephalopathy skos:exactMatch SCTID:50490005 semapv:UnspecifiedMatching MONDO:0006796 hypertensive encephalopathy skos:exactMatch UMLS:C0151620 semapv:UnspecifiedMatching MONDO:0006796 hypertensive encephalopathy skos:exactMatch mesh:D020343 semapv:UnspecifiedMatching MONDO:0006797 hypertensive retinopathy skos:exactMatch DOID:11561 hypertensive retinopathy semapv:UnspecifiedMatching MONDO:0006797 hypertensive retinopathy skos:exactMatch NCIT:C3514 Hypertensive Retinopathy semapv:UnspecifiedMatching MONDO:0006797 hypertensive retinopathy skos:exactMatch SCTID:6962006 semapv:UnspecifiedMatching MONDO:0006797 hypertensive retinopathy skos:exactMatch UMLS:C0152132 semapv:UnspecifiedMatching MONDO:0006797 hypertensive retinopathy skos:exactMatch mesh:D058437 semapv:UnspecifiedMatching MONDO:0006798 hypervitaminosis A skos:exactMatch DOID:9972 hypervitaminosis A semapv:UnspecifiedMatching MONDO:0006798 hypervitaminosis A skos:exactMatch ICD10CM:E67.0 Hypervitaminosis A semapv:UnspecifiedMatching MONDO:0006798 hypervitaminosis A skos:exactMatch SCTID:64559002 semapv:UnspecifiedMatching MONDO:0006798 hypervitaminosis A skos:exactMatch UMLS:C0020579 semapv:UnspecifiedMatching MONDO:0006798 hypervitaminosis A skos:exactMatch mesh:D006986 semapv:UnspecifiedMatching MONDO:0006799 hypothalamic neoplasm skos:exactMatch DOID:3644 hypothalamic neoplasm semapv:UnspecifiedMatching MONDO:0006799 hypothalamic neoplasm skos:exactMatch NCIT:C3129 Hypothalamic Neoplasm semapv:UnspecifiedMatching MONDO:0006799 hypothalamic neoplasm skos:exactMatch SCTID:254968009 semapv:UnspecifiedMatching MONDO:0006799 hypothalamic neoplasm skos:exactMatch UMLS:C0020659 semapv:UnspecifiedMatching MONDO:0006799 hypothalamic neoplasm skos:exactMatch mesh:D007029 semapv:UnspecifiedMatching MONDO:0006800 ideomotor apraxia skos:exactMatch DOID:4627 ideomotor apraxia semapv:UnspecifiedMatching MONDO:0006800 ideomotor apraxia skos:exactMatch SCTID:229706001 semapv:UnspecifiedMatching MONDO:0006800 ideomotor apraxia skos:exactMatch mesh:D020240 semapv:UnspecifiedMatching MONDO:0006801 ileal neoplasm skos:exactMatch DOID:10156 benign ileal neoplasm semapv:UnspecifiedMatching MONDO:0006801 ileal neoplasm skos:exactMatch NCIT:C3130 Ileal Neoplasm semapv:UnspecifiedMatching MONDO:0006801 ileal neoplasm skos:exactMatch SCTID:126835002 semapv:UnspecifiedMatching MONDO:0006801 ileal neoplasm skos:exactMatch UMLS:C0020876 semapv:UnspecifiedMatching MONDO:0006801 ileal neoplasm skos:exactMatch mesh:D007078 semapv:UnspecifiedMatching MONDO:0006802 inappropriate ADH syndrome skos:exactMatch DOID:3401 inappropriate ADH syndrome semapv:UnspecifiedMatching MONDO:0006802 inappropriate ADH syndrome skos:exactMatch NCIT:C3988 Syndrome of Inappropriate Antidiuretic Hormone Secretion semapv:UnspecifiedMatching MONDO:0006802 inappropriate ADH syndrome skos:exactMatch SCTID:55004003 semapv:UnspecifiedMatching MONDO:0006802 inappropriate ADH syndrome skos:exactMatch UMLS:C0021141 semapv:UnspecifiedMatching MONDO:0006802 inappropriate ADH syndrome skos:exactMatch mesh:D007177 semapv:UnspecifiedMatching MONDO:0006803 inferior myocardial infarction skos:exactMatch DOID:5850 inferior myocardial infarction semapv:UnspecifiedMatching MONDO:0006803 inferior myocardial infarction skos:exactMatch UMLS:C0340305 semapv:UnspecifiedMatching MONDO:0006803 inferior myocardial infarction skos:exactMatch mesh:D056989 semapv:UnspecifiedMatching MONDO:0006804 inflammatory breast carcinoma skos:exactMatch DOID:6263 inflammatory breast carcinoma semapv:UnspecifiedMatching MONDO:0006804 inflammatory breast carcinoma skos:exactMatch NCIT:C4001 Breast Inflammatory Carcinoma semapv:UnspecifiedMatching MONDO:0006804 inflammatory breast carcinoma skos:exactMatch SCTID:254840009 semapv:UnspecifiedMatching MONDO:0006804 inflammatory breast carcinoma skos:exactMatch UMLS:C0278601 semapv:UnspecifiedMatching MONDO:0006804 inflammatory breast carcinoma skos:exactMatch mesh:D058922 semapv:UnspecifiedMatching MONDO:0006805 intermediate coronary syndrome skos:exactMatch DOID:8805 intermediate coronary syndrome semapv:UnspecifiedMatching MONDO:0006805 intermediate coronary syndrome skos:exactMatch ICD10CM:I20.0 Unstable angina semapv:UnspecifiedMatching MONDO:0006805 intermediate coronary syndrome skos:exactMatch UMLS:C0002965 semapv:UnspecifiedMatching MONDO:0006805 intermediate coronary syndrome skos:exactMatch mesh:D000789 semapv:UnspecifiedMatching MONDO:0006806 intermediate uveitis skos:exactMatch DOID:12732 intermediate uveitis semapv:UnspecifiedMatching MONDO:0006806 intermediate uveitis skos:exactMatch NCIT:C35110 Intermediate Uveitis semapv:UnspecifiedMatching MONDO:0006806 intermediate uveitis skos:exactMatch Orphanet:279914 Intermediate uveitis semapv:UnspecifiedMatching MONDO:0006806 intermediate uveitis skos:exactMatch SCTID:314429009 semapv:UnspecifiedMatching MONDO:0006806 intermediate uveitis skos:exactMatch UMLS:C0042166 semapv:UnspecifiedMatching MONDO:0006806 intermediate uveitis skos:exactMatch mesh:D015867 semapv:UnspecifiedMatching MONDO:0006807 intestinal perforation skos:exactMatch DOID:2074 intestinal perforation semapv:UnspecifiedMatching MONDO:0006807 intestinal perforation skos:exactMatch NCIT:C39611 Intestinal Perforation semapv:UnspecifiedMatching MONDO:0006807 intestinal perforation skos:exactMatch SCTID:56905009 semapv:UnspecifiedMatching MONDO:0006807 intestinal perforation skos:exactMatch UMLS:C0021845 semapv:UnspecifiedMatching MONDO:0006807 intestinal perforation skos:exactMatch mesh:D007416 semapv:UnspecifiedMatching MONDO:0006808 intracranial arterial disease skos:exactMatch DOID:13089 intracranial arterial disease semapv:UnspecifiedMatching MONDO:0006808 intracranial arterial disease skos:exactMatch UMLS:C0752138 semapv:UnspecifiedMatching MONDO:0006808 intracranial arterial disease skos:exactMatch mesh:D020765 semapv:UnspecifiedMatching MONDO:0006809 intracranial embolism skos:exactMatch DOID:4372 intracranial embolism semapv:UnspecifiedMatching MONDO:0006809 intracranial embolism skos:exactMatch SCTID:75543006 semapv:UnspecifiedMatching MONDO:0006809 intracranial embolism skos:exactMatch mesh:D020766 semapv:UnspecifiedMatching MONDO:0006810 intracranial hypertension skos:exactMatch DOID:9428 intracranial hypertension semapv:UnspecifiedMatching MONDO:0006810 intracranial hypertension skos:exactMatch UMLS:C0151740 semapv:UnspecifiedMatching MONDO:0006810 intracranial hypertension skos:exactMatch mesh:D019586 semapv:UnspecifiedMatching MONDO:0006811 intracranial hypotension skos:exactMatch DOID:4723 intracranial hypotension semapv:UnspecifiedMatching MONDO:0006811 intracranial hypotension skos:exactMatch SCTID:433691000124104 semapv:UnspecifiedMatching MONDO:0006811 intracranial hypotension skos:exactMatch UMLS:C0524812 semapv:UnspecifiedMatching MONDO:0006811 intracranial hypotension skos:exactMatch mesh:D019585 semapv:UnspecifiedMatching MONDO:0006812 intracranial vasospasm skos:exactMatch DOID:13100 intracranial vasospasm semapv:UnspecifiedMatching MONDO:0006812 intracranial vasospasm skos:exactMatch UMLS:C0751895 semapv:UnspecifiedMatching MONDO:0006812 intracranial vasospasm skos:exactMatch mesh:D020301 semapv:UnspecifiedMatching MONDO:0006813 intradermal nevus skos:exactMatch NCIT:C3804 Dermal Nevus semapv:UnspecifiedMatching MONDO:0006813 intradermal nevus skos:exactMatch SCTID:302838006 semapv:UnspecifiedMatching MONDO:0006813 intradermal nevus skos:exactMatch UMLS:C0206737 semapv:UnspecifiedMatching MONDO:0006813 intradermal nevus skos:exactMatch mesh:D018330 semapv:UnspecifiedMatching MONDO:0006814 iritis skos:exactMatch DOID:1406 iritis semapv:UnspecifiedMatching MONDO:0006814 iritis skos:exactMatch NCIT:C50621 Iritis semapv:UnspecifiedMatching MONDO:0006814 iritis skos:exactMatch SCTID:65074000 semapv:UnspecifiedMatching MONDO:0006814 iritis skos:exactMatch UMLS:C0022081 semapv:UnspecifiedMatching MONDO:0006814 iritis skos:exactMatch mesh:D007500 semapv:UnspecifiedMatching MONDO:0006815 jejunal cancer skos:exactMatch DOID:13499 jejunal cancer semapv:UnspecifiedMatching MONDO:0006815 jejunal cancer skos:exactMatch SCTID:363404008 semapv:UnspecifiedMatching MONDO:0006815 jejunal cancer skos:exactMatch UMLS:C0153427 semapv:UnspecifiedMatching MONDO:0006816 arthropathy skos:exactMatch DOID:381 arthropathy semapv:UnspecifiedMatching MONDO:0006816 arthropathy skos:exactMatch NCIT:C35760 Arthropathy semapv:UnspecifiedMatching MONDO:0006816 arthropathy skos:exactMatch SCTID:399269003 semapv:UnspecifiedMatching MONDO:0006816 arthropathy skos:exactMatch UMLS:C0022408 semapv:UnspecifiedMatching MONDO:0006816 arthropathy skos:exactMatch mesh:D007592 semapv:UnspecifiedMatching MONDO:0006817 juxtacortical osteosarcoma skos:exactMatch DOID:3373 parosteal osteosarcoma semapv:UnspecifiedMatching MONDO:0006817 juxtacortical osteosarcoma skos:exactMatch NCIT:C8969 Parosteal Osteosarcoma semapv:UnspecifiedMatching MONDO:0006817 juxtacortical osteosarcoma skos:exactMatch UMLS:C0206642 semapv:UnspecifiedMatching MONDO:0006817 juxtacortical osteosarcoma skos:exactMatch mesh:D018217 semapv:UnspecifiedMatching MONDO:0006820 kidney cortex necrosis skos:exactMatch DOID:2973 kidney cortex necrosis semapv:UnspecifiedMatching MONDO:0006820 kidney cortex necrosis skos:exactMatch SCTID:444691002 semapv:UnspecifiedMatching MONDO:0006820 kidney cortex necrosis skos:exactMatch mesh:D007673 semapv:UnspecifiedMatching MONDO:0006821 kidney papillary necrosis skos:exactMatch DOID:2981 kidney papillary necrosis semapv:UnspecifiedMatching MONDO:0006821 kidney papillary necrosis skos:exactMatch SCTID:90241004 semapv:UnspecifiedMatching MONDO:0006821 kidney papillary necrosis skos:exactMatch UMLS:C0022667 semapv:UnspecifiedMatching MONDO:0006821 kidney papillary necrosis skos:exactMatch mesh:D007681 semapv:UnspecifiedMatching MONDO:0006823 Klinefelter syndrome skos:exactMatch DOID:1921 Klinefelter syndrome semapv:UnspecifiedMatching MONDO:0006823 Klinefelter syndrome skos:exactMatch NCIT:C34752 Klinefelter Syndrome semapv:UnspecifiedMatching MONDO:0006823 Klinefelter syndrome skos:exactMatch SCTID:405769009 semapv:UnspecifiedMatching MONDO:0006823 Klinefelter syndrome skos:exactMatch UMLS:C0022735 semapv:UnspecifiedMatching MONDO:0006823 Klinefelter syndrome skos:exactMatch mesh:D007713 semapv:UnspecifiedMatching MONDO:0006824 Krebs 2 carcinoma skos:exactMatch UMLS:C0007128 semapv:UnspecifiedMatching MONDO:0006824 Krebs 2 carcinoma skos:exactMatch mesh:D002287 semapv:UnspecifiedMatching MONDO:0006825 kuru skos:exactMatch DOID:648 kuru semapv:UnspecifiedMatching MONDO:0006825 kuru skos:exactMatch ICD10CM:A81.81 Kuru semapv:UnspecifiedMatching MONDO:0006825 kuru skos:exactMatch Orphanet:454745 Kuru semapv:UnspecifiedMatching MONDO:0006825 kuru skos:exactMatch SCTID:86188000 semapv:UnspecifiedMatching MONDO:0006825 kuru skos:exactMatch UMLS:C0022802 semapv:UnspecifiedMatching MONDO:0006825 kuru skos:exactMatch mesh:D007729 semapv:UnspecifiedMatching MONDO:0006826 kwashiorkor skos:exactMatch DOID:13579 kwashiorkor semapv:UnspecifiedMatching MONDO:0006826 kwashiorkor skos:exactMatch ICD10CM:E40 Kwashiorkor semapv:UnspecifiedMatching MONDO:0006826 kwashiorkor skos:exactMatch SCTID:58262005 semapv:UnspecifiedMatching MONDO:0006826 kwashiorkor skos:exactMatch UMLS:C0022806 semapv:UnspecifiedMatching MONDO:0006826 kwashiorkor skos:exactMatch mesh:D007732 semapv:UnspecifiedMatching MONDO:0006827 lateral medullary syndrome skos:exactMatch DOID:3522 lateral medullary syndrome semapv:UnspecifiedMatching MONDO:0006827 lateral medullary syndrome skos:exactMatch NCIT:C84807 Lateral Medullary Syndrome semapv:UnspecifiedMatching MONDO:0006827 lateral medullary syndrome skos:exactMatch SCTID:78569004 semapv:UnspecifiedMatching MONDO:0006827 lateral medullary syndrome skos:exactMatch UMLS:C0043019 semapv:UnspecifiedMatching MONDO:0006827 lateral medullary syndrome skos:exactMatch mesh:D014854 semapv:UnspecifiedMatching MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma skos:exactMatch DOID:9072 lethal midline granuloma semapv:UnspecifiedMatching MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma skos:exactMatch NCIT:C8196 Nasal Cavity and Paranasal Sinus Lethal Midline Granuloma semapv:UnspecifiedMatching MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma skos:exactMatch mesh:D006103 semapv:UnspecifiedMatching MONDO:0006829 leukemoid reaction skos:exactMatch ICD10CM:D72.823 Leukemoid reaction semapv:UnspecifiedMatching MONDO:0006829 leukemoid reaction skos:exactMatch SCTID:56478004 semapv:UnspecifiedMatching MONDO:0006829 leukemoid reaction skos:exactMatch UMLS:C0023501 semapv:UnspecifiedMatching MONDO:0006829 leukemoid reaction skos:exactMatch mesh:D007955 semapv:UnspecifiedMatching MONDO:0006830 leukoplakia of penis skos:exactMatch DOID:8738 leukoplakia of penis semapv:UnspecifiedMatching MONDO:0006830 leukoplakia of penis skos:exactMatch NCIT:C3151 Penile Leukoplakia semapv:UnspecifiedMatching MONDO:0006830 leukoplakia of penis skos:exactMatch SCTID:3323003 semapv:UnspecifiedMatching MONDO:0006830 leukoplakia of penis skos:exactMatch UMLS:C0022782 semapv:UnspecifiedMatching MONDO:0006831 leukostasis skos:exactMatch DOID:12986 leukostasis semapv:UnspecifiedMatching MONDO:0006831 leukostasis skos:exactMatch UMLS:C0282548 semapv:UnspecifiedMatching MONDO:0006831 leukostasis skos:exactMatch mesh:D018921 semapv:UnspecifiedMatching MONDO:0006833 lingual goiter skos:exactMatch DOID:13196 lingual goiter semapv:UnspecifiedMatching MONDO:0006833 lingual goiter skos:exactMatch SCTID:75667007 semapv:UnspecifiedMatching MONDO:0006833 lingual goiter skos:exactMatch UMLS:C0271760 semapv:UnspecifiedMatching MONDO:0006833 lingual goiter skos:exactMatch mesh:D047268 semapv:UnspecifiedMatching MONDO:0006834 lip cancer skos:exactMatch DOID:8564 lip cancer semapv:UnspecifiedMatching MONDO:0006834 lip cancer skos:exactMatch ICD10CM:C00 Malignant neoplasm of lip semapv:UnspecifiedMatching MONDO:0006834 lip cancer skos:exactMatch NCIT:C7485 Malignant Lip Neoplasm semapv:UnspecifiedMatching MONDO:0006834 lip cancer skos:exactMatch SCTID:187622006 semapv:UnspecifiedMatching MONDO:0006834 lip cancer skos:exactMatch mesh:D008048 semapv:UnspecifiedMatching MONDO:0006835 lipoid nephrosis skos:exactMatch DOID:10966 lipoid nephrosis semapv:UnspecifiedMatching MONDO:0006835 lipoid nephrosis skos:exactMatch NCIT:C34844 Minimal Change Glomerulonephritis semapv:UnspecifiedMatching MONDO:0006835 lipoid nephrosis skos:exactMatch SCTID:44785005 semapv:UnspecifiedMatching MONDO:0006835 lipoid nephrosis skos:exactMatch UMLS:C0027721 semapv:UnspecifiedMatching MONDO:0006835 lipoid nephrosis skos:exactMatch mesh:D009402 semapv:UnspecifiedMatching MONDO:0006836 Listeria meningitis skos:exactMatch DOID:11572 Listeria meningitis semapv:UnspecifiedMatching MONDO:0006836 Listeria meningitis skos:exactMatch SCTID:31568009 semapv:UnspecifiedMatching MONDO:0006836 Listeria meningitis skos:exactMatch UMLS:C0025293 semapv:UnspecifiedMatching MONDO:0006836 Listeria meningitis skos:exactMatch mesh:D008584 semapv:UnspecifiedMatching MONDO:0006837 low tension glaucoma skos:exactMatch DOID:13544 low tension glaucoma semapv:UnspecifiedMatching MONDO:0006837 low tension glaucoma skos:exactMatch SCTID:50485007 semapv:UnspecifiedMatching MONDO:0006837 low tension glaucoma skos:exactMatch UMLS:C0152136 semapv:UnspecifiedMatching MONDO:0006837 low tension glaucoma skos:exactMatch mesh:D057066 semapv:UnspecifiedMatching MONDO:0006838 lupus vulgaris skos:exactMatch SCTID:10528009 semapv:UnspecifiedMatching MONDO:0006838 lupus vulgaris skos:exactMatch UMLS:C0024131 semapv:UnspecifiedMatching MONDO:0006838 lupus vulgaris skos:exactMatch mesh:D008177 semapv:UnspecifiedMatching MONDO:0006839 Lutembacher syndrome skos:exactMatch DOID:1998 Lutembacher's syndrome semapv:UnspecifiedMatching MONDO:0006839 Lutembacher syndrome skos:exactMatch SCTID:204319006 semapv:UnspecifiedMatching MONDO:0006839 Lutembacher syndrome skos:exactMatch UMLS:C0024164 semapv:UnspecifiedMatching MONDO:0006839 Lutembacher syndrome skos:exactMatch mesh:D008185 semapv:UnspecifiedMatching MONDO:0006840 lymphangiectasis skos:exactMatch NCIT:C97087 Lymphangiectasia semapv:UnspecifiedMatching MONDO:0006840 lymphangiectasis skos:exactMatch UMLS:C0024214 semapv:UnspecifiedMatching MONDO:0006840 lymphangiectasis skos:exactMatch mesh:D008200 semapv:UnspecifiedMatching MONDO:0006841 lymphangioendothelioma skos:exactMatch NCIT:C3203 Acquired Progressive Lymphangioma semapv:UnspecifiedMatching MONDO:0006841 lymphangioendothelioma skos:exactMatch SCTID:403975006 semapv:UnspecifiedMatching MONDO:0006842 lymphangiomyoma skos:exactMatch NCIT:C3204 Lymphangioleiomyoma semapv:UnspecifiedMatching MONDO:0006842 lymphangiomyoma skos:exactMatch UMLS:C0024223 semapv:UnspecifiedMatching MONDO:0006842 lymphangiomyoma skos:exactMatch mesh:D008203 semapv:UnspecifiedMatching MONDO:0006843 macular holes skos:exactMatch DOID:7633 macular holes semapv:UnspecifiedMatching MONDO:0006843 macular holes skos:exactMatch NCIT:C34795 Macular Hole semapv:UnspecifiedMatching MONDO:0006843 macular holes skos:exactMatch SCTID:232006002 semapv:UnspecifiedMatching MONDO:0006843 macular holes skos:exactMatch UMLS:C0024441 semapv:UnspecifiedMatching MONDO:0006844 magnesium deficiency skos:exactMatch ICD10CM:E61.2 Magnesium deficiency semapv:UnspecifiedMatching MONDO:0006844 magnesium deficiency skos:exactMatch SCTID:238118002 semapv:UnspecifiedMatching MONDO:0006844 magnesium deficiency skos:exactMatch UMLS:C0024473 semapv:UnspecifiedMatching MONDO:0006844 magnesium deficiency skos:exactMatch mesh:D008275 semapv:UnspecifiedMatching MONDO:0006845 male genital tuberculosis skos:exactMatch SCTID:240379005 semapv:UnspecifiedMatching MONDO:0006845 male genital tuberculosis skos:exactMatch UMLS:C0041317 semapv:UnspecifiedMatching MONDO:0006845 male genital tuberculosis skos:exactMatch mesh:D014389 semapv:UnspecifiedMatching MONDO:0006846 malignant hypertension skos:exactMatch DOID:10824 malignant hypertension semapv:UnspecifiedMatching MONDO:0006846 malignant hypertension skos:exactMatch SCTID:70272006 semapv:UnspecifiedMatching MONDO:0006846 malignant hypertension skos:exactMatch UMLS:C0020540 semapv:UnspecifiedMatching MONDO:0006846 malignant hypertension skos:exactMatch mesh:D006974 semapv:UnspecifiedMatching MONDO:0006848 marasmus skos:exactMatch DOID:12328 marasmus semapv:UnspecifiedMatching MONDO:0006848 marasmus skos:exactMatch ICD10CM:E41 Nutritional marasmus semapv:UnspecifiedMatching MONDO:0006848 marasmus skos:exactMatch SCTID:29740003 semapv:UnspecifiedMatching MONDO:0006848 marasmus skos:exactMatch UMLS:C0086588 semapv:UnspecifiedMatching MONDO:0006849 mastitis skos:exactMatch DOID:10690 mastitis semapv:UnspecifiedMatching MONDO:0006849 mastitis skos:exactMatch NCIT:C53662 Mastitis semapv:UnspecifiedMatching MONDO:0006849 mastitis skos:exactMatch SCTID:45198002 semapv:UnspecifiedMatching MONDO:0006849 mastitis skos:exactMatch UMLS:C0024894 semapv:UnspecifiedMatching MONDO:0006849 mastitis skos:exactMatch mesh:D008413 semapv:UnspecifiedMatching MONDO:0006850 maxillary sinus neoplasm skos:exactMatch DOID:1358 maxillary sinus benign neoplasm semapv:UnspecifiedMatching MONDO:0006850 maxillary sinus neoplasm skos:exactMatch NCIT:C3219 Maxillary Sinus Neoplasm semapv:UnspecifiedMatching MONDO:0006850 maxillary sinus neoplasm skos:exactMatch SCTID:126676009 semapv:UnspecifiedMatching MONDO:0006850 maxillary sinus neoplasm skos:exactMatch UMLS:C0024958 semapv:UnspecifiedMatching MONDO:0006850 maxillary sinus neoplasm skos:exactMatch mesh:D008444 semapv:UnspecifiedMatching MONDO:0006851 meconium aspiration syndrome skos:exactMatch DOID:11049 meconium aspiration syndrome semapv:UnspecifiedMatching MONDO:0006851 meconium aspiration syndrome skos:exactMatch NCIT:C87093 Meconium Aspiration Syndrome semapv:UnspecifiedMatching MONDO:0006851 meconium aspiration syndrome skos:exactMatch Orphanet:70588 Meconium aspiration syndrome semapv:UnspecifiedMatching MONDO:0006851 meconium aspiration syndrome skos:exactMatch SCTID:206292002 semapv:UnspecifiedMatching MONDO:0006851 meconium aspiration syndrome skos:exactMatch UMLS:C0025048 semapv:UnspecifiedMatching MONDO:0006851 meconium aspiration syndrome skos:exactMatch mesh:D008471 semapv:UnspecifiedMatching MONDO:0006853 mesenchymal chondrosarcoma skos:exactMatch DOID:4545 mesenchymal chondrosarcoma semapv:UnspecifiedMatching MONDO:0006853 mesenchymal chondrosarcoma skos:exactMatch NCIT:C3737 Mesenchymal Chondrosarcoma semapv:UnspecifiedMatching MONDO:0006853 mesenchymal chondrosarcoma skos:exactMatch UMLS:C0206637 semapv:UnspecifiedMatching MONDO:0006853 mesenchymal chondrosarcoma skos:exactMatch mesh:D018211 semapv:UnspecifiedMatching MONDO:0006854 mesenchymoma skos:exactMatch DOID:2668 mesenchymoma semapv:UnspecifiedMatching MONDO:0006854 mesenchymoma skos:exactMatch NCIT:C3233 Mesenchymoma semapv:UnspecifiedMatching MONDO:0006854 mesenchymoma skos:exactMatch UMLS:C0025464 semapv:UnspecifiedMatching MONDO:0006854 mesenchymoma skos:exactMatch mesh:D008637 semapv:UnspecifiedMatching MONDO:0006855 mesenteric vascular occlusion skos:exactMatch DOID:13252 mesenteric vascular occlusion semapv:UnspecifiedMatching MONDO:0006855 mesenteric vascular occlusion skos:exactMatch UMLS:C0025472 semapv:UnspecifiedMatching MONDO:0006855 mesenteric vascular occlusion skos:exactMatch mesh:D008641 semapv:UnspecifiedMatching MONDO:0006856 mesothelial neoplasm skos:exactMatch NCIT:C3786 Mesothelial Neoplasm semapv:UnspecifiedMatching MONDO:0006856 mesothelial neoplasm skos:exactMatch UMLS:C3714739 semapv:UnspecifiedMatching MONDO:0006856 mesothelial neoplasm skos:exactMatch mesh:D018301 semapv:UnspecifiedMatching MONDO:0006857 middle cerebral artery infarction skos:exactMatch DOID:3525 middle cerebral artery infarction semapv:UnspecifiedMatching MONDO:0006857 middle cerebral artery infarction skos:exactMatch UMLS:C0740392 semapv:UnspecifiedMatching MONDO:0006857 middle cerebral artery infarction skos:exactMatch mesh:D020244 semapv:UnspecifiedMatching MONDO:0006858 mouth disorder skos:exactMatch DOID:403 mouth disease semapv:UnspecifiedMatching MONDO:0006858 mouth disorder skos:exactMatch NCIT:C3240 Oral Disorder semapv:UnspecifiedMatching MONDO:0006858 mouth disorder skos:exactMatch SCTID:118938008 semapv:UnspecifiedMatching MONDO:0006858 mouth disorder skos:exactMatch UMLS:C0026636 semapv:UnspecifiedMatching MONDO:0006858 mouth disorder skos:exactMatch mesh:D009059 semapv:UnspecifiedMatching MONDO:0006859 mucinous cystadenoma skos:exactMatch NCIT:C2973 Mucinous Cystadenoma semapv:UnspecifiedMatching MONDO:0006859 mucinous cystadenoma skos:exactMatch UMLS:C0010635 semapv:UnspecifiedMatching MONDO:0006859 mucinous cystadenoma skos:exactMatch mesh:D018291 semapv:UnspecifiedMatching MONDO:0006861 myeloid sarcoma skos:exactMatch DOID:8683 myeloid sarcoma semapv:UnspecifiedMatching MONDO:0006861 myeloid sarcoma skos:exactMatch ICD10CM:C92.3 Myeloid sarcoma semapv:UnspecifiedMatching MONDO:0006861 myeloid sarcoma skos:exactMatch NCIT:C3520 Myeloid Sarcoma semapv:UnspecifiedMatching MONDO:0006861 myeloid sarcoma skos:exactMatch Orphanet:86850 Myeloid sarcoma semapv:UnspecifiedMatching MONDO:0006861 myeloid sarcoma skos:exactMatch mesh:D023981 semapv:UnspecifiedMatching MONDO:0006862 myofascial pain syndrome skos:exactMatch DOID:431 myofascial pain syndrome semapv:UnspecifiedMatching MONDO:0006862 myofascial pain syndrome skos:exactMatch SCTID:24693007 semapv:UnspecifiedMatching MONDO:0006862 myofascial pain syndrome skos:exactMatch UMLS:C0027073 semapv:UnspecifiedMatching MONDO:0006862 myofascial pain syndrome skos:exactMatch mesh:D009209 semapv:UnspecifiedMatching MONDO:0006863 myxosarcoma skos:exactMatch DOID:4136 myxosarcoma semapv:UnspecifiedMatching MONDO:0006863 myxosarcoma skos:exactMatch NCIT:C3255 Myxosarcoma semapv:UnspecifiedMatching MONDO:0006863 myxosarcoma skos:exactMatch UMLS:C0027155 semapv:UnspecifiedMatching MONDO:0006863 myxosarcoma skos:exactMatch mesh:D009236 semapv:UnspecifiedMatching MONDO:0006864 necrotizing sialometaplasia skos:exactMatch DOID:12901 necrotizing sialometaplasia semapv:UnspecifiedMatching MONDO:0006864 necrotizing sialometaplasia skos:exactMatch SCTID:109769000 semapv:UnspecifiedMatching MONDO:0006864 necrotizing sialometaplasia skos:exactMatch UMLS:C0037033 semapv:UnspecifiedMatching MONDO:0006864 necrotizing sialometaplasia skos:exactMatch mesh:D012797 semapv:UnspecifiedMatching MONDO:0006865 necrotizing ulcerative gingivitis skos:exactMatch DOID:13924 necrotizing ulcerative gingivitis semapv:UnspecifiedMatching MONDO:0006865 necrotizing ulcerative gingivitis skos:exactMatch NCIT:C34637 Necrotizing Ulcerative Gingivitis semapv:UnspecifiedMatching MONDO:0006865 necrotizing ulcerative gingivitis skos:exactMatch SCTID:186963008 semapv:UnspecifiedMatching MONDO:0006865 necrotizing ulcerative gingivitis skos:exactMatch UMLS:C0017575 semapv:UnspecifiedMatching MONDO:0006865 necrotizing ulcerative gingivitis skos:exactMatch mesh:D005892 semapv:UnspecifiedMatching MONDO:0006866 neonatal myasthenia gravis skos:exactMatch DOID:14043 neonatal myasthenia gravis semapv:UnspecifiedMatching MONDO:0006866 neonatal myasthenia gravis skos:exactMatch SCTID:82178003 semapv:UnspecifiedMatching MONDO:0006866 neonatal myasthenia gravis skos:exactMatch mesh:D020941 semapv:UnspecifiedMatching MONDO:0006868 neurogenic bowel skos:exactMatch DOID:13419 neurogenic bowel semapv:UnspecifiedMatching MONDO:0006868 neurogenic bowel skos:exactMatch SCTID:425671009 semapv:UnspecifiedMatching MONDO:0006868 neurogenic bowel skos:exactMatch UMLS:C0695242 semapv:UnspecifiedMatching MONDO:0006868 neurogenic bowel skos:exactMatch mesh:D055496 semapv:UnspecifiedMatching MONDO:0006869 nodular goiter skos:exactMatch DOID:13197 nodular goiter semapv:UnspecifiedMatching MONDO:0006869 nodular goiter skos:exactMatch NCIT:C131437 Nodular Goiter semapv:UnspecifiedMatching MONDO:0006869 nodular goiter skos:exactMatch SCTID:419153005 semapv:UnspecifiedMatching MONDO:0006869 nodular goiter skos:exactMatch UMLS:C0018023 semapv:UnspecifiedMatching MONDO:0006869 nodular goiter skos:exactMatch mesh:D006044 semapv:UnspecifiedMatching MONDO:0006871 non-gestational choriocarcinoma skos:exactMatch DOID:4320 non-gestational choriocarcinoma semapv:UnspecifiedMatching MONDO:0006871 non-gestational choriocarcinoma skos:exactMatch UMLS:C1135873 semapv:UnspecifiedMatching MONDO:0006871 non-gestational choriocarcinoma skos:exactMatch mesh:D031954 semapv:UnspecifiedMatching MONDO:0006872 obsolete nut allergic reaction skos:exactMatch DOID:4379 nut allergy semapv:UnspecifiedMatching MONDO:0006872 obsolete nut allergic reaction skos:exactMatch SCTID:91934008 semapv:UnspecifiedMatching MONDO:0006872 obsolete nut allergic reaction skos:exactMatch UMLS:C0577620 semapv:UnspecifiedMatching MONDO:0006872 obsolete nut allergic reaction skos:exactMatch mesh:D021184 semapv:UnspecifiedMatching MONDO:0006873 nutritional deficiency disease skos:exactMatch DOID:5113 nutritional deficiency disease semapv:UnspecifiedMatching MONDO:0006873 nutritional deficiency disease skos:exactMatch ICD10CM:E40-E46 Malnutrition (E40-E46) semapv:UnspecifiedMatching MONDO:0006873 nutritional deficiency disease skos:exactMatch NCIT:C3669 Malnutrition semapv:UnspecifiedMatching MONDO:0006873 nutritional deficiency disease skos:exactMatch SCTID:363246002 semapv:UnspecifiedMatching MONDO:0006873 nutritional deficiency disease skos:exactMatch SCTID:70241007 semapv:UnspecifiedMatching MONDO:0006873 nutritional deficiency disease skos:exactMatch mesh:D003677 semapv:UnspecifiedMatching MONDO:0006874 obstructive jaundice skos:exactMatch DOID:13603 obstructive jaundice semapv:UnspecifiedMatching MONDO:0006874 obstructive jaundice skos:exactMatch SCTID:44018007 semapv:UnspecifiedMatching MONDO:0006874 obstructive jaundice skos:exactMatch UMLS:C0022354 semapv:UnspecifiedMatching MONDO:0006874 obstructive jaundice skos:exactMatch mesh:D041781 semapv:UnspecifiedMatching MONDO:0006875 ocular hypertension skos:exactMatch DOID:9282 ocular hypertension semapv:UnspecifiedMatching MONDO:0006875 ocular hypertension skos:exactMatch SCTID:4210003 semapv:UnspecifiedMatching MONDO:0006875 ocular hypertension skos:exactMatch UMLS:C0028840 semapv:UnspecifiedMatching MONDO:0006875 ocular hypertension skos:exactMatch mesh:D009798 semapv:UnspecifiedMatching MONDO:0006876 ocular tuberculosis skos:exactMatch DOID:0070344 ocular tuberculosis semapv:UnspecifiedMatching MONDO:0006876 ocular tuberculosis skos:exactMatch SCTID:49107007 semapv:UnspecifiedMatching MONDO:0006876 ocular tuberculosis skos:exactMatch UMLS:C0041322 semapv:UnspecifiedMatching MONDO:0006876 ocular tuberculosis skos:exactMatch mesh:D014392 semapv:UnspecifiedMatching MONDO:0006877 oophoritis skos:exactMatch DOID:10974 oophoritis semapv:UnspecifiedMatching MONDO:0006877 oophoritis skos:exactMatch SCTID:76047005 semapv:UnspecifiedMatching MONDO:0006877 oophoritis skos:exactMatch UMLS:C0029051 semapv:UnspecifiedMatching MONDO:0006877 oophoritis skos:exactMatch mesh:D009869 semapv:UnspecifiedMatching MONDO:0006878 Moraxellaceae infectious disease skos:exactMatch mesh:D045828 semapv:UnspecifiedMatching MONDO:0006879 optic papillitis skos:exactMatch DOID:10175 optic papillitis semapv:UnspecifiedMatching MONDO:0006879 optic papillitis skos:exactMatch SCTID:73221001 semapv:UnspecifiedMatching MONDO:0006880 oral leukoedema skos:exactMatch DOID:4557 oral leukoedema semapv:UnspecifiedMatching MONDO:0006880 oral leukoedema skos:exactMatch SCTID:67795000 semapv:UnspecifiedMatching MONDO:0006880 oral leukoedema skos:exactMatch UMLS:C0023523 semapv:UnspecifiedMatching MONDO:0006880 oral leukoedema skos:exactMatch mesh:D007967 semapv:UnspecifiedMatching MONDO:0006881 orbital cellulitis skos:exactMatch DOID:11234 orbital cellulitis semapv:UnspecifiedMatching MONDO:0006881 orbital cellulitis skos:exactMatch NCIT:C99000 Orbital Cellulitis semapv:UnspecifiedMatching MONDO:0006881 orbital cellulitis skos:exactMatch SCTID:194005002 semapv:UnspecifiedMatching MONDO:0006881 orbital cellulitis skos:exactMatch UMLS:C0149507 semapv:UnspecifiedMatching MONDO:0006881 orbital cellulitis skos:exactMatch mesh:D054517 semapv:UnspecifiedMatching MONDO:0006882 orchitis skos:exactMatch DOID:2518 orchitis semapv:UnspecifiedMatching MONDO:0006882 orchitis skos:exactMatch ICD10CM:N45.2 Orchitis semapv:UnspecifiedMatching MONDO:0006882 orchitis skos:exactMatch NCIT:C97145 Orchitis semapv:UnspecifiedMatching MONDO:0006882 orchitis skos:exactMatch SCTID:274718005 semapv:UnspecifiedMatching MONDO:0006882 orchitis skos:exactMatch UMLS:C0029191 semapv:UnspecifiedMatching MONDO:0006882 orchitis skos:exactMatch mesh:D009920 semapv:UnspecifiedMatching MONDO:0006883 malignant superior sulcus neoplasm skos:exactMatch DOID:8007 Pancoast tumor semapv:UnspecifiedMatching MONDO:0006883 malignant superior sulcus neoplasm skos:exactMatch NCIT:C7527 Malignant Superior Sulcus Neoplasm semapv:UnspecifiedMatching MONDO:0006883 malignant superior sulcus neoplasm skos:exactMatch SCTID:254638002 semapv:UnspecifiedMatching MONDO:0006883 malignant superior sulcus neoplasm skos:exactMatch UMLS:C0549471 semapv:UnspecifiedMatching MONDO:0006884 panophthalmitis skos:exactMatch DOID:13732 panophthalmitis semapv:UnspecifiedMatching MONDO:0006884 panophthalmitis skos:exactMatch SCTID:33382000 semapv:UnspecifiedMatching MONDO:0006884 panophthalmitis skos:exactMatch UMLS:C0030332 semapv:UnspecifiedMatching MONDO:0006884 panophthalmitis skos:exactMatch mesh:D010202 semapv:UnspecifiedMatching MONDO:0006886 thyroid gland papillary and follicular carcinoma skos:exactMatch DOID:3968 papillary follicular thyroid adenocarcinoma semapv:UnspecifiedMatching MONDO:0006886 thyroid gland papillary and follicular carcinoma skos:exactMatch NCIT:C7380 Thyroid Gland Papillary and Follicular Carcinoma semapv:UnspecifiedMatching MONDO:0006886 thyroid gland papillary and follicular carcinoma skos:exactMatch UMLS:C0206683 semapv:UnspecifiedMatching MONDO:0006886 thyroid gland papillary and follicular carcinoma skos:exactMatch mesh:D018265 semapv:UnspecifiedMatching MONDO:0006887 parametritis skos:exactMatch DOID:1260 parametritis semapv:UnspecifiedMatching MONDO:0006887 parametritis skos:exactMatch SCTID:280483007 semapv:UnspecifiedMatching MONDO:0006887 parametritis skos:exactMatch UMLS:C0030455 semapv:UnspecifiedMatching MONDO:0006887 parametritis skos:exactMatch mesh:D010249 semapv:UnspecifiedMatching MONDO:0006888 paraneoplastic polyneuropathy skos:exactMatch DOID:8681 paraneoplastic polyneuropathy semapv:UnspecifiedMatching MONDO:0006888 paraneoplastic polyneuropathy skos:exactMatch NCIT:C3981 Paraneoplastic Polyneuropathy semapv:UnspecifiedMatching MONDO:0006888 paraneoplastic polyneuropathy skos:exactMatch SCTID:77659000 semapv:UnspecifiedMatching MONDO:0006888 paraneoplastic polyneuropathy skos:exactMatch UMLS:C0270932 semapv:UnspecifiedMatching MONDO:0006888 paraneoplastic polyneuropathy skos:exactMatch mesh:D020364 semapv:UnspecifiedMatching MONDO:0006889 paraphimosis skos:exactMatch DOID:5334 paraphimosis semapv:UnspecifiedMatching MONDO:0006889 paraphimosis skos:exactMatch ICD10CM:N47.2 Paraphimosis semapv:UnspecifiedMatching MONDO:0006889 paraphimosis skos:exactMatch NCIT:C34893 Paraphimosis semapv:UnspecifiedMatching MONDO:0006889 paraphimosis skos:exactMatch SCTID:13758004 semapv:UnspecifiedMatching MONDO:0006889 paraphimosis skos:exactMatch UMLS:C0030483 semapv:UnspecifiedMatching MONDO:0006889 paraphimosis skos:exactMatch mesh:D010263 semapv:UnspecifiedMatching MONDO:0006890 parathyroid gland adenoma skos:exactMatch DOID:7608 parathyroid adenoma semapv:UnspecifiedMatching MONDO:0006890 parathyroid gland adenoma skos:exactMatch NCIT:C156757 Parathyroid Gland Adenoma semapv:UnspecifiedMatching MONDO:0006890 parathyroid gland adenoma skos:exactMatch SCTID:128474007 semapv:UnspecifiedMatching MONDO:0006890 parathyroid gland adenoma skos:exactMatch UMLS:C0262587 semapv:UnspecifiedMatching MONDO:0006891 partial motor epilepsy skos:exactMatch DOID:3327 partial motor epilepsy semapv:UnspecifiedMatching MONDO:0006891 partial motor epilepsy skos:exactMatch SCTID:128612007 semapv:UnspecifiedMatching MONDO:0006891 partial motor epilepsy skos:exactMatch mesh:D020938 semapv:UnspecifiedMatching MONDO:0006892 partial sensory epilepsy skos:exactMatch DOID:3330 partial sensory epilepsy semapv:UnspecifiedMatching MONDO:0006892 partial sensory epilepsy skos:exactMatch mesh:D020937 semapv:UnspecifiedMatching MONDO:0006893 Pasteurella hemorrhagic septicemia skos:exactMatch SCTID:198462004 semapv:UnspecifiedMatching MONDO:0006893 Pasteurella hemorrhagic septicemia skos:exactMatch mesh:D006483 semapv:UnspecifiedMatching MONDO:0006894 patellofemoral pain syndrome skos:exactMatch DOID:14284 patellofemoral pain syndrome semapv:UnspecifiedMatching MONDO:0006894 patellofemoral pain syndrome skos:exactMatch SCTID:430725003 semapv:UnspecifiedMatching MONDO:0006894 patellofemoral pain syndrome skos:exactMatch UMLS:C0877149 semapv:UnspecifiedMatching MONDO:0006894 patellofemoral pain syndrome skos:exactMatch mesh:D046788 semapv:UnspecifiedMatching MONDO:0006895 penile neoplasm skos:exactMatch DOID:11624 penile benign neoplasm semapv:UnspecifiedMatching MONDO:0006895 penile neoplasm skos:exactMatch NCIT:C3317 Penile Neoplasm semapv:UnspecifiedMatching MONDO:0006895 penile neoplasm skos:exactMatch SCTID:126896003 semapv:UnspecifiedMatching MONDO:0006895 penile neoplasm skos:exactMatch UMLS:C0030849 semapv:UnspecifiedMatching MONDO:0006895 penile neoplasm skos:exactMatch mesh:D010412 semapv:UnspecifiedMatching MONDO:0006896 peptic esophagitis skos:exactMatch DOID:13976 peptic esophagitis semapv:UnspecifiedMatching MONDO:0006896 peptic esophagitis skos:exactMatch SCTID:57643001 semapv:UnspecifiedMatching MONDO:0006896 peptic esophagitis skos:exactMatch UMLS:C0014869 semapv:UnspecifiedMatching MONDO:0006896 peptic esophagitis skos:exactMatch mesh:D004942 semapv:UnspecifiedMatching MONDO:0006897 periapical granuloma skos:exactMatch DOID:4617 periapical granuloma semapv:UnspecifiedMatching MONDO:0006897 periapical granuloma skos:exactMatch SCTID:81407003 semapv:UnspecifiedMatching MONDO:0006897 periapical granuloma skos:exactMatch UMLS:C0031029 semapv:UnspecifiedMatching MONDO:0006897 periapical granuloma skos:exactMatch mesh:D010484 semapv:UnspecifiedMatching MONDO:0006898 periarthritis skos:exactMatch DOID:2964 periarthritis semapv:UnspecifiedMatching MONDO:0006898 periarthritis skos:exactMatch SCTID:50921008 semapv:UnspecifiedMatching MONDO:0006898 periarthritis skos:exactMatch UMLS:C0031037 semapv:UnspecifiedMatching MONDO:0006898 periarthritis skos:exactMatch mesh:D010489 semapv:UnspecifiedMatching MONDO:0006899 pericoronitis skos:exactMatch DOID:3671 pericoronitis semapv:UnspecifiedMatching MONDO:0006899 pericoronitis skos:exactMatch SCTID:22240003 semapv:UnspecifiedMatching MONDO:0006899 pericoronitis skos:exactMatch UMLS:C0031055 semapv:UnspecifiedMatching MONDO:0006899 pericoronitis skos:exactMatch mesh:D010497 semapv:UnspecifiedMatching MONDO:0006900 perinephritis skos:exactMatch DOID:2982 perinephritis semapv:UnspecifiedMatching MONDO:0006900 perinephritis skos:exactMatch SCTID:111404004 semapv:UnspecifiedMatching MONDO:0006900 perinephritis skos:exactMatch UMLS:C0031065 semapv:UnspecifiedMatching MONDO:0006900 perinephritis skos:exactMatch mesh:D010501 semapv:UnspecifiedMatching MONDO:0006901 peritoneal neoplasm skos:exactMatch NCIT:C3322 Peritoneal Neoplasm semapv:UnspecifiedMatching MONDO:0006901 peritoneal neoplasm skos:exactMatch SCTID:126865007 semapv:UnspecifiedMatching MONDO:0006901 peritoneal neoplasm skos:exactMatch mesh:D010534 semapv:UnspecifiedMatching MONDO:0006903 peroneal nerve paralysis skos:exactMatch DOID:6925 peroneal nerve paralysis semapv:UnspecifiedMatching MONDO:0006903 peroneal nerve paralysis skos:exactMatch NCIT:C27061 Peroneal Nerve Paralysis semapv:UnspecifiedMatching MONDO:0006903 peroneal nerve paralysis skos:exactMatch SCTID:399088004 semapv:UnspecifiedMatching MONDO:0006903 peroneal nerve paralysis skos:exactMatch UMLS:C0270810 semapv:UnspecifiedMatching MONDO:0006904 phimosis skos:exactMatch DOID:2712 phimosis semapv:UnspecifiedMatching MONDO:0006904 phimosis skos:exactMatch ICD10CM:N47.1 Phimosis semapv:UnspecifiedMatching MONDO:0006904 phimosis skos:exactMatch NCIT:C26852 Phimosis semapv:UnspecifiedMatching MONDO:0006904 phimosis skos:exactMatch SCTID:449826002 semapv:UnspecifiedMatching MONDO:0006904 phimosis skos:exactMatch mesh:D010688 semapv:UnspecifiedMatching MONDO:0006905 pigmented spindle cell nevus skos:exactMatch NCIT:C4751 Pigmented Spindle Cell Nevus semapv:UnspecifiedMatching MONDO:0006905 pigmented spindle cell nevus skos:exactMatch SCTID:254812004 semapv:UnspecifiedMatching MONDO:0006905 pigmented spindle cell nevus skos:exactMatch mesh:D018331 semapv:UnspecifiedMatching MONDO:0006907 pilar sheath acanthoma skos:exactMatch DOID:4322 pilar sheath acanthoma semapv:UnspecifiedMatching MONDO:0006907 pilar sheath acanthoma skos:exactMatch NCIT:C4468 Pilar Sheath Acanthoma semapv:UnspecifiedMatching MONDO:0006907 pilar sheath acanthoma skos:exactMatch SCTID:254693008 semapv:UnspecifiedMatching MONDO:0006907 pilar sheath acanthoma skos:exactMatch UMLS:C0346005 semapv:UnspecifiedMatching MONDO:0006908 pituitary apoplexy skos:exactMatch DOID:1129 pituitary apoplexy semapv:UnspecifiedMatching MONDO:0006908 pituitary apoplexy skos:exactMatch NCIT:C26853 Pituitary Gland Apoplexy semapv:UnspecifiedMatching MONDO:0006908 pituitary apoplexy skos:exactMatch Orphanet:95613 Pituitary apoplexy semapv:UnspecifiedMatching MONDO:0006908 pituitary apoplexy skos:exactMatch SCTID:237701005 semapv:UnspecifiedMatching MONDO:0006908 pituitary apoplexy skos:exactMatch UMLS:C0032001 semapv:UnspecifiedMatching MONDO:0006908 pituitary apoplexy skos:exactMatch mesh:D010899 semapv:UnspecifiedMatching MONDO:0006909 pituitary dwarfism skos:exactMatch SCTID:367460001 semapv:UnspecifiedMatching MONDO:0006909 pituitary dwarfism skos:exactMatch UMLS:C0013338 semapv:UnspecifiedMatching MONDO:0006909 pituitary dwarfism skos:exactMatch mesh:D004393 semapv:UnspecifiedMatching MONDO:0006912 pneumatosis cystoides intestinalis skos:exactMatch DOID:13249 pneumatosis cystoides intestinalis semapv:UnspecifiedMatching MONDO:0006912 pneumatosis cystoides intestinalis skos:exactMatch SCTID:17465007 semapv:UnspecifiedMatching MONDO:0006912 pneumatosis cystoides intestinalis skos:exactMatch UMLS:C0032266 semapv:UnspecifiedMatching MONDO:0006912 pneumatosis cystoides intestinalis skos:exactMatch mesh:D011006 semapv:UnspecifiedMatching MONDO:0006913 pneumococcal meningitis skos:exactMatch ICD10CM:G00.1 Pneumococcal meningitis semapv:UnspecifiedMatching MONDO:0006913 pneumococcal meningitis skos:exactMatch NCIT:C157958 Pneumococcal Meningitis semapv:UnspecifiedMatching MONDO:0006913 pneumococcal meningitis skos:exactMatch Orphanet:55655 Pneumococcal meningitis semapv:UnspecifiedMatching MONDO:0006913 pneumococcal meningitis skos:exactMatch SCTID:51169003 semapv:UnspecifiedMatching MONDO:0006913 pneumococcal meningitis skos:exactMatch UMLS:C0025295 semapv:UnspecifiedMatching MONDO:0006913 pneumococcal meningitis skos:exactMatch mesh:D008586 semapv:UnspecifiedMatching MONDO:0006915 polyradiculoneuropathy skos:exactMatch DOID:4308 polyradiculoneuropathy semapv:UnspecifiedMatching MONDO:0006915 polyradiculoneuropathy skos:exactMatch SCTID:128078004 semapv:UnspecifiedMatching MONDO:0006915 polyradiculoneuropathy skos:exactMatch UMLS:C0032587 semapv:UnspecifiedMatching MONDO:0006915 polyradiculoneuropathy skos:exactMatch mesh:D011129 semapv:UnspecifiedMatching MONDO:0006916 postcholecystectomy syndrome skos:exactMatch DOID:9740 postcholecystectomy syndrome semapv:UnspecifiedMatching MONDO:0006916 postcholecystectomy syndrome skos:exactMatch ICD10CM:K91.5 Postcholecystectomy syndrome semapv:UnspecifiedMatching MONDO:0006916 postcholecystectomy syndrome skos:exactMatch SCTID:90782003 semapv:UnspecifiedMatching MONDO:0006916 postcholecystectomy syndrome skos:exactMatch UMLS:C0152099 semapv:UnspecifiedMatching MONDO:0006916 postcholecystectomy syndrome skos:exactMatch mesh:D017562 semapv:UnspecifiedMatching MONDO:0006917 posterior cerebral artery infarction skos:exactMatch DOID:3821 posterior cerebral artery infarction semapv:UnspecifiedMatching MONDO:0006917 posterior cerebral artery infarction skos:exactMatch UMLS:C0752132 semapv:UnspecifiedMatching MONDO:0006917 posterior cerebral artery infarction skos:exactMatch mesh:D020762 semapv:UnspecifiedMatching MONDO:0006918 posterior uveitis skos:exactMatch DOID:12574 posterior uveitis semapv:UnspecifiedMatching MONDO:0006918 posterior uveitis skos:exactMatch SCTID:43363007 semapv:UnspecifiedMatching MONDO:0006918 posterior uveitis skos:exactMatch UMLS:C0042167 semapv:UnspecifiedMatching MONDO:0006918 posterior uveitis skos:exactMatch mesh:D015866 semapv:UnspecifiedMatching MONDO:0006919 potassium deficiency skos:exactMatch mesh:D011191 semapv:UnspecifiedMatching MONDO:0006920 prediabetes syndrome skos:exactMatch DOID:11716 prediabetes syndrome semapv:UnspecifiedMatching MONDO:0006920 prediabetes syndrome skos:exactMatch NCIT:C122685 Prediabetes semapv:UnspecifiedMatching MONDO:0006920 prediabetes syndrome skos:exactMatch UMLS:C0362046 semapv:UnspecifiedMatching MONDO:0006920 prediabetes syndrome skos:exactMatch mesh:D011236 semapv:UnspecifiedMatching MONDO:0006921 Actinomycetales infectious disease skos:exactMatch NCIT:C84534 Actinomycetales Infection semapv:UnspecifiedMatching MONDO:0006921 Actinomycetales infectious disease skos:exactMatch SCTID:11817007 semapv:UnspecifiedMatching MONDO:0006921 Actinomycetales infectious disease skos:exactMatch SCTID:721751007 semapv:UnspecifiedMatching MONDO:0006921 Actinomycetales infectious disease skos:exactMatch UMLS:C0001255 semapv:UnspecifiedMatching MONDO:0006921 Actinomycetales infectious disease skos:exactMatch mesh:D000193 semapv:UnspecifiedMatching MONDO:0006922 Anaplasmataceae infectious disease skos:exactMatch SCTID:422167001 semapv:UnspecifiedMatching MONDO:0006922 Anaplasmataceae infectious disease skos:exactMatch mesh:D000711 semapv:UnspecifiedMatching MONDO:0006923 Bacillaceae infectious disease skos:exactMatch UMLS:C0085389 semapv:UnspecifiedMatching MONDO:0006923 Bacillaceae infectious disease skos:exactMatch mesh:D016863 semapv:UnspecifiedMatching MONDO:0006924 Bartonellaceae infectious disease skos:exactMatch UMLS:C0004773 semapv:UnspecifiedMatching MONDO:0006924 Bartonellaceae infectious disease skos:exactMatch mesh:D001476 semapv:UnspecifiedMatching MONDO:0006925 Fusobacteriaceae infectious disease skos:exactMatch UMLS:C1258222 semapv:UnspecifiedMatching MONDO:0006925 Fusobacteriaceae infectious disease skos:exactMatch mesh:D045825 semapv:UnspecifiedMatching MONDO:0006926 haemophilus infectious disease skos:exactMatch NCIT:C34654 Hemophilus Infection semapv:UnspecifiedMatching MONDO:0006926 haemophilus infectious disease skos:exactMatch SCTID:41659003 semapv:UnspecifiedMatching MONDO:0006926 haemophilus infectious disease skos:exactMatch mesh:D006192 semapv:UnspecifiedMatching MONDO:0006927 Rickettsiaceae infectious disease skos:exactMatch mesh:D012288 semapv:UnspecifiedMatching MONDO:0006929 Proteus infectious disease skos:exactMatch SCTID:186437007 semapv:UnspecifiedMatching MONDO:0006929 Proteus infectious disease skos:exactMatch UMLS:C0033700 semapv:UnspecifiedMatching MONDO:0006929 Proteus infectious disease skos:exactMatch mesh:D011512 semapv:UnspecifiedMatching MONDO:0006930 pseudobulbar palsy skos:exactMatch DOID:12680 pseudobulbar palsy semapv:UnspecifiedMatching MONDO:0006930 pseudobulbar palsy skos:exactMatch NCIT:C129934 Pseudobulbar Palsy semapv:UnspecifiedMatching MONDO:0006930 pseudobulbar palsy skos:exactMatch SCTID:7379000 semapv:UnspecifiedMatching MONDO:0006930 pseudobulbar palsy skos:exactMatch UMLS:C0033790 semapv:UnspecifiedMatching MONDO:0006930 pseudobulbar palsy skos:exactMatch mesh:D020828 semapv:UnspecifiedMatching MONDO:0006931 pulmonary coin lesion skos:exactMatch DOID:5364 pulmonary coin lesion semapv:UnspecifiedMatching MONDO:0006931 pulmonary coin lesion skos:exactMatch UMLS:C0009250 semapv:UnspecifiedMatching MONDO:0006931 pulmonary coin lesion skos:exactMatch mesh:D003074 semapv:UnspecifiedMatching MONDO:0006932 pulmonary edema skos:exactMatch DOID:11396 pulmonary edema semapv:UnspecifiedMatching MONDO:0006932 pulmonary edema skos:exactMatch ICD10CM:J81 Pulmonary edema semapv:UnspecifiedMatching MONDO:0006932 pulmonary edema skos:exactMatch NCIT:C26868 Pulmonary Edema semapv:UnspecifiedMatching MONDO:0006932 pulmonary edema skos:exactMatch SCTID:19242006 semapv:UnspecifiedMatching MONDO:0006932 pulmonary edema skos:exactMatch UMLS:C0034063 semapv:UnspecifiedMatching MONDO:0006932 pulmonary edema skos:exactMatch mesh:D011654 semapv:UnspecifiedMatching MONDO:0006933 pulmonary plasma cell granuloma skos:exactMatch DOID:3677 pulmonary plasma cell granuloma semapv:UnspecifiedMatching MONDO:0006933 pulmonary plasma cell granuloma skos:exactMatch SCTID:1648002 semapv:UnspecifiedMatching MONDO:0006933 pulmonary plasma cell granuloma skos:exactMatch UMLS:C0085269 semapv:UnspecifiedMatching MONDO:0006933 pulmonary plasma cell granuloma skos:exactMatch mesh:D016726 semapv:UnspecifiedMatching MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch DOID:8861 pulmonary subvalvular stenosis semapv:UnspecifiedMatching MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch NCIT:C34961 Congenital Infundibular Stenosis semapv:UnspecifiedMatching MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch SCTID:204370002 semapv:UnspecifiedMatching MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch mesh:D011662 semapv:UnspecifiedMatching MONDO:0006936 pulmonary valve stenosis skos:exactMatch DOID:6420 pulmonary valve stenosis semapv:UnspecifiedMatching MONDO:0006936 pulmonary valve stenosis skos:exactMatch mesh:D011666 semapv:UnspecifiedMatching MONDO:0006937 pulpitis skos:exactMatch DOID:11121 pulpitis semapv:UnspecifiedMatching MONDO:0006937 pulpitis skos:exactMatch ICD10CM:K04.0 Pulpitis semapv:UnspecifiedMatching MONDO:0006937 pulpitis skos:exactMatch SCTID:32620007 semapv:UnspecifiedMatching MONDO:0006937 pulpitis skos:exactMatch UMLS:C0034103 semapv:UnspecifiedMatching MONDO:0006937 pulpitis skos:exactMatch mesh:D011671 semapv:UnspecifiedMatching MONDO:0006938 pyelitis skos:exactMatch DOID:2744 pyelitis semapv:UnspecifiedMatching MONDO:0006938 pyelitis skos:exactMatch NCIT:C34964 Pyelitis semapv:UnspecifiedMatching MONDO:0006938 pyelitis skos:exactMatch SCTID:27174002 semapv:UnspecifiedMatching MONDO:0006938 pyelitis skos:exactMatch UMLS:C0034183 semapv:UnspecifiedMatching MONDO:0006938 pyelitis skos:exactMatch mesh:D011702 semapv:UnspecifiedMatching MONDO:0006939 pyelonephritis skos:exactMatch DOID:11400 pyelonephritis semapv:UnspecifiedMatching MONDO:0006939 pyelonephritis skos:exactMatch NCIT:C34965 Pyelonephritis semapv:UnspecifiedMatching MONDO:0006939 pyelonephritis skos:exactMatch SCTID:45816000 semapv:UnspecifiedMatching MONDO:0006939 pyelonephritis skos:exactMatch UMLS:C0034186 semapv:UnspecifiedMatching MONDO:0006939 pyelonephritis skos:exactMatch mesh:D011704 semapv:UnspecifiedMatching MONDO:0006940 radial nerve lesion skos:exactMatch DOID:12170 radial nerve lesion semapv:UnspecifiedMatching MONDO:0006940 radial nerve lesion skos:exactMatch SCTID:193137006 semapv:UnspecifiedMatching MONDO:0006940 radial nerve lesion skos:exactMatch UMLS:C0154744 semapv:UnspecifiedMatching MONDO:0006941 rat-bite fever skos:exactMatch NCIT:C34971 Rat-Bite Fever semapv:UnspecifiedMatching MONDO:0006941 rat-bite fever skos:exactMatch Orphanet:31205 Rat-bite fever semapv:UnspecifiedMatching MONDO:0006941 rat-bite fever skos:exactMatch SCTID:1685005 semapv:UnspecifiedMatching MONDO:0006941 rat-bite fever skos:exactMatch UMLS:C0034686 semapv:UnspecifiedMatching MONDO:0006941 rat-bite fever skos:exactMatch mesh:D011906 semapv:UnspecifiedMatching MONDO:0006944 renal aminoaciduria skos:exactMatch SCTID:35912001 semapv:UnspecifiedMatching MONDO:0006944 renal aminoaciduria skos:exactMatch mesh:D000608 semapv:UnspecifiedMatching MONDO:0006945 renal artery obstruction skos:exactMatch DOID:2972 renal artery obstruction semapv:UnspecifiedMatching MONDO:0006945 renal artery obstruction skos:exactMatch UMLS:C0035066 semapv:UnspecifiedMatching MONDO:0006945 renal artery obstruction skos:exactMatch mesh:D012078 semapv:UnspecifiedMatching MONDO:0006946 renal osteodystrophy skos:exactMatch DOID:13068 renal osteodystrophy semapv:UnspecifiedMatching MONDO:0006946 renal osteodystrophy skos:exactMatch ICD10CM:N25.0 Renal osteodystrophy semapv:UnspecifiedMatching MONDO:0006946 renal osteodystrophy skos:exactMatch SCTID:16726004 semapv:UnspecifiedMatching MONDO:0006946 renal osteodystrophy skos:exactMatch UMLS:C0035086 semapv:UnspecifiedMatching MONDO:0006946 renal osteodystrophy skos:exactMatch mesh:D012080 semapv:UnspecifiedMatching MONDO:0006947 renovascular hypertension skos:exactMatch DOID:1591 renovascular hypertension semapv:UnspecifiedMatching MONDO:0006947 renovascular hypertension skos:exactMatch ICD10CM:I15.0 Renovascular hypertension semapv:UnspecifiedMatching MONDO:0006947 renovascular hypertension skos:exactMatch SCTID:123799005 semapv:UnspecifiedMatching MONDO:0006947 renovascular hypertension skos:exactMatch UMLS:C0020545 semapv:UnspecifiedMatching MONDO:0006948 retinal artery occlusion skos:exactMatch DOID:8483 retinal artery occlusion semapv:UnspecifiedMatching MONDO:0006948 retinal artery occlusion skos:exactMatch NCIT:C34978 Retinal Artery Occlusion semapv:UnspecifiedMatching MONDO:0006948 retinal artery occlusion skos:exactMatch SCTID:232035005 semapv:UnspecifiedMatching MONDO:0006948 retinal artery occlusion skos:exactMatch UMLS:C0035302 semapv:UnspecifiedMatching MONDO:0006948 retinal artery occlusion skos:exactMatch mesh:D015356 semapv:UnspecifiedMatching MONDO:0006949 retinal drusen skos:exactMatch DOID:2569 retinal drusen semapv:UnspecifiedMatching MONDO:0006949 retinal drusen skos:exactMatch SCTID:247153005 semapv:UnspecifiedMatching MONDO:0006949 retinal drusen skos:exactMatch UMLS:C0035312 semapv:UnspecifiedMatching MONDO:0006949 retinal drusen skos:exactMatch mesh:D015593 semapv:UnspecifiedMatching MONDO:0006950 retinal vasculitis skos:exactMatch DOID:11563 retinal vasculitis semapv:UnspecifiedMatching MONDO:0006950 retinal vasculitis skos:exactMatch SCTID:77628002 semapv:UnspecifiedMatching MONDO:0006950 retinal vasculitis skos:exactMatch UMLS:C0152026 semapv:UnspecifiedMatching MONDO:0006950 retinal vasculitis skos:exactMatch mesh:D031300 semapv:UnspecifiedMatching MONDO:0006951 retinal vein occlusion skos:exactMatch DOID:1727 retinal vein occlusion semapv:UnspecifiedMatching MONDO:0006951 retinal vein occlusion skos:exactMatch NCIT:C34981 Retinal Vein Occlusion semapv:UnspecifiedMatching MONDO:0006951 retinal vein occlusion skos:exactMatch SCTID:46085004 semapv:UnspecifiedMatching MONDO:0006951 retinal vein occlusion skos:exactMatch UMLS:C0035328 semapv:UnspecifiedMatching MONDO:0006951 retinal vein occlusion skos:exactMatch mesh:D012170 semapv:UnspecifiedMatching MONDO:0006952 retinopathy of prematurity skos:exactMatch DOID:13025 retinopathy of prematurity semapv:UnspecifiedMatching MONDO:0006952 retinopathy of prematurity skos:exactMatch NCIT:C34982 Retinopathy of Prematurity semapv:UnspecifiedMatching MONDO:0006952 retinopathy of prematurity skos:exactMatch Orphanet:90050 Retinopathy of prematurity semapv:UnspecifiedMatching MONDO:0006952 retinopathy of prematurity skos:exactMatch SCTID:415297005 semapv:UnspecifiedMatching MONDO:0006952 retinopathy of prematurity skos:exactMatch UMLS:C0035344 semapv:UnspecifiedMatching MONDO:0006952 retinopathy of prematurity skos:exactMatch mesh:D012178 semapv:UnspecifiedMatching MONDO:0006953 Rh isoimmunization skos:exactMatch DOID:4175 Rh isoimmunization semapv:UnspecifiedMatching MONDO:0006953 Rh isoimmunization skos:exactMatch SCTID:44795003 semapv:UnspecifiedMatching MONDO:0006953 Rh isoimmunization skos:exactMatch UMLS:C0035404 semapv:UnspecifiedMatching MONDO:0006955 rheumatic heart disease skos:exactMatch DOID:0050827 rheumatic heart disease semapv:UnspecifiedMatching MONDO:0006955 rheumatic heart disease skos:exactMatch NCIT:C34882 Rheumatic Heart Disease semapv:UnspecifiedMatching MONDO:0006955 rheumatic heart disease skos:exactMatch SCTID:23685000 semapv:UnspecifiedMatching MONDO:0006955 rheumatic heart disease skos:exactMatch mesh:D012214 semapv:UnspecifiedMatching MONDO:0006956 Rickettsiosis skos:exactMatch ICD10CM:A75-A79 Rickettsioses (A75-A79) semapv:UnspecifiedMatching MONDO:0006956 Rickettsiosis skos:exactMatch NCIT:C34991 Rickettsiosis semapv:UnspecifiedMatching MONDO:0006956 Rickettsiosis skos:exactMatch Orphanet:102021 Rickettsial disease semapv:UnspecifiedMatching MONDO:0006956 Rickettsiosis skos:exactMatch SCTID:37246009 semapv:UnspecifiedMatching MONDO:0006956 Rickettsiosis skos:exactMatch UMLS:C0035585 semapv:UnspecifiedMatching MONDO:0006956 Rickettsiosis skos:exactMatch mesh:D012282 semapv:UnspecifiedMatching MONDO:0006957 root caries skos:exactMatch DOID:14089 root caries semapv:UnspecifiedMatching MONDO:0006957 root caries skos:exactMatch SCTID:30512007 semapv:UnspecifiedMatching MONDO:0006957 root caries skos:exactMatch UMLS:C0162644 semapv:UnspecifiedMatching MONDO:0006957 root caries skos:exactMatch mesh:D017213 semapv:UnspecifiedMatching MONDO:0006960 sciatic neuropathy skos:exactMatch DOID:11446 sciatic neuropathy semapv:UnspecifiedMatching MONDO:0006960 sciatic neuropathy skos:exactMatch SCTID:52585001 semapv:UnspecifiedMatching MONDO:0006960 sciatic neuropathy skos:exactMatch UMLS:C0149940 semapv:UnspecifiedMatching MONDO:0006960 sciatic neuropathy skos:exactMatch mesh:D020426 semapv:UnspecifiedMatching MONDO:0006961 scrapie skos:exactMatch DOID:5434 scrapie semapv:UnspecifiedMatching MONDO:0006961 scrapie skos:exactMatch UMLS:C0036457 semapv:UnspecifiedMatching MONDO:0006961 scrapie skos:exactMatch mesh:D012608 semapv:UnspecifiedMatching MONDO:0006962 sebaceous adenocarcinoma skos:exactMatch DOID:4839 sebaceous adenocarcinoma semapv:UnspecifiedMatching MONDO:0006962 sebaceous adenocarcinoma skos:exactMatch DOID:4840 sebaceous carcinoma semapv:UnspecifiedMatching MONDO:0006962 sebaceous adenocarcinoma skos:exactMatch NCIT:C40310 Sebaceous Carcinoma semapv:UnspecifiedMatching MONDO:0006962 sebaceous adenocarcinoma skos:exactMatch SCTID:307599002 semapv:UnspecifiedMatching MONDO:0006962 sebaceous adenocarcinoma skos:exactMatch UMLS:C0206684 semapv:UnspecifiedMatching MONDO:0006962 sebaceous adenocarcinoma skos:exactMatch mesh:D018266 semapv:UnspecifiedMatching MONDO:0006963 sebaceous gland neoplasm skos:exactMatch DOID:5759 sebaceous gland neoplasm semapv:UnspecifiedMatching MONDO:0006963 sebaceous gland neoplasm skos:exactMatch NCIT:C3363 Sebaceous Gland Neoplasm semapv:UnspecifiedMatching MONDO:0006963 sebaceous gland neoplasm skos:exactMatch SCTID:126491004 semapv:UnspecifiedMatching MONDO:0006963 sebaceous gland neoplasm skos:exactMatch UMLS:C0036503 semapv:UnspecifiedMatching MONDO:0006963 sebaceous gland neoplasm skos:exactMatch mesh:D012626 semapv:UnspecifiedMatching MONDO:0006964 secondary hyperparathyroidism skos:exactMatch DOID:12466 secondary hyperparathyroidism semapv:UnspecifiedMatching MONDO:0006964 secondary hyperparathyroidism skos:exactMatch NCIT:C113335 Secondary Hyperparathyroidism semapv:UnspecifiedMatching MONDO:0006964 secondary hyperparathyroidism skos:exactMatch SCTID:91478007 semapv:UnspecifiedMatching MONDO:0006964 secondary hyperparathyroidism skos:exactMatch UMLS:C0020503 semapv:UnspecifiedMatching MONDO:0006964 secondary hyperparathyroidism skos:exactMatch mesh:D006962 semapv:UnspecifiedMatching MONDO:0006965 secondary hypertrophic osteoarthropathy skos:exactMatch DOID:10393 secondary hypertrophic osteoarthropathy semapv:UnspecifiedMatching MONDO:0006965 secondary hypertrophic osteoarthropathy skos:exactMatch SCTID:203357004 semapv:UnspecifiedMatching MONDO:0006965 secondary hypertrophic osteoarthropathy skos:exactMatch UMLS:C0029412 semapv:UnspecifiedMatching MONDO:0006965 secondary hypertrophic osteoarthropathy skos:exactMatch mesh:D010005 semapv:UnspecifiedMatching MONDO:0006966 secondary Parkinson disease skos:exactMatch DOID:13548 secondary Parkinson disease semapv:UnspecifiedMatching MONDO:0006966 secondary Parkinson disease skos:exactMatch NCIT:C34899 Secondary Parkinsonism semapv:UnspecifiedMatching MONDO:0006966 secondary Parkinson disease skos:exactMatch SCTID:265377002 semapv:UnspecifiedMatching MONDO:0006966 secondary Parkinson disease skos:exactMatch UMLS:C0030569 semapv:UnspecifiedMatching MONDO:0006966 secondary Parkinson disease skos:exactMatch mesh:D010302 semapv:UnspecifiedMatching MONDO:0006967 obsolete septic abortion skos:exactMatch mesh:D000031 semapv:UnspecifiedMatching MONDO:0006968 shoulder impingement syndrome skos:exactMatch DOID:14276 shoulder impingement syndrome semapv:UnspecifiedMatching MONDO:0006968 shoulder impingement syndrome skos:exactMatch ICD10CM:M75.4 Impingement syndrome of shoulder semapv:UnspecifiedMatching MONDO:0006968 shoulder impingement syndrome skos:exactMatch SCTID:202849001 semapv:UnspecifiedMatching MONDO:0006968 shoulder impingement syndrome skos:exactMatch UMLS:C0376685 semapv:UnspecifiedMatching MONDO:0006968 shoulder impingement syndrome skos:exactMatch mesh:D019534 semapv:UnspecifiedMatching MONDO:0006969 sialadenitis skos:exactMatch DOID:10303 sialadenitis semapv:UnspecifiedMatching MONDO:0006969 sialadenitis skos:exactMatch NCIT:C115165 Sialitis semapv:UnspecifiedMatching MONDO:0006969 sialadenitis skos:exactMatch NCIT:C26882 Sialadenitis semapv:UnspecifiedMatching MONDO:0006969 sialadenitis skos:exactMatch SCTID:42982001 semapv:UnspecifiedMatching MONDO:0006969 sialadenitis skos:exactMatch UMLS:C0037023 semapv:UnspecifiedMatching MONDO:0006969 sialadenitis skos:exactMatch mesh:D012793 semapv:UnspecifiedMatching MONDO:0006970 sialolithiasis skos:exactMatch DOID:12905 sialolithiasis semapv:UnspecifiedMatching MONDO:0006970 sialolithiasis skos:exactMatch ICD10CM:K11.5 Sialolithiasis semapv:UnspecifiedMatching MONDO:0006970 sialolithiasis skos:exactMatch SCTID:28826002 semapv:UnspecifiedMatching MONDO:0006970 sialolithiasis skos:exactMatch UMLS:C0036091 semapv:UnspecifiedMatching MONDO:0006970 sialolithiasis skos:exactMatch mesh:D015494 semapv:UnspecifiedMatching MONDO:0006971 sigmoid neoplasm skos:exactMatch DOID:1896 sigmoid neoplasm semapv:UnspecifiedMatching MONDO:0006971 sigmoid neoplasm skos:exactMatch SCTID:126845000 semapv:UnspecifiedMatching MONDO:0006971 sigmoid neoplasm skos:exactMatch UMLS:C0037073 semapv:UnspecifiedMatching MONDO:0006971 sigmoid neoplasm skos:exactMatch mesh:D012811 semapv:UnspecifiedMatching MONDO:0006972 silo filler disease skos:exactMatch DOID:4374 Silo filler's disease semapv:UnspecifiedMatching MONDO:0006972 silo filler disease skos:exactMatch SCTID:61233003 semapv:UnspecifiedMatching MONDO:0006972 silo filler disease skos:exactMatch UMLS:C0037120 semapv:UnspecifiedMatching MONDO:0006972 silo filler disease skos:exactMatch mesh:D012832 semapv:UnspecifiedMatching MONDO:0006973 skin appendage carcinoma skos:exactMatch NCIT:C3775 Adnexal Carcinoma semapv:UnspecifiedMatching MONDO:0006973 skin appendage carcinoma skos:exactMatch UMLS:C0206697 semapv:UnspecifiedMatching MONDO:0006973 skin appendage carcinoma skos:exactMatch mesh:D018280 semapv:UnspecifiedMatching MONDO:0006974 small cell sarcoma skos:exactMatch DOID:3098 small cell sarcoma semapv:UnspecifiedMatching MONDO:0006974 small cell sarcoma skos:exactMatch NCIT:C3746 Small Cell Sarcoma semapv:UnspecifiedMatching MONDO:0006974 small cell sarcoma skos:exactMatch UMLS:C0206652 semapv:UnspecifiedMatching MONDO:0006974 small cell sarcoma skos:exactMatch mesh:D018228 semapv:UnspecifiedMatching MONDO:0006975 smooth muscle tumor skos:exactMatch DOID:4310 smooth muscle tumor semapv:UnspecifiedMatching MONDO:0006975 smooth muscle tumor skos:exactMatch NCIT:C3751 Smooth Muscle Neoplasm semapv:UnspecifiedMatching MONDO:0006975 smooth muscle tumor skos:exactMatch UMLS:C0206658 semapv:UnspecifiedMatching MONDO:0006975 smooth muscle tumor skos:exactMatch mesh:D018235 semapv:UnspecifiedMatching MONDO:0006976 somatostatinoma skos:exactMatch DOID:4430 somatostatinoma semapv:UnspecifiedMatching MONDO:0006976 somatostatinoma skos:exactMatch NCIT:C3379 Somatostatin-Producing Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0006976 somatostatinoma skos:exactMatch Orphanet:97283 Somatostatinoma semapv:UnspecifiedMatching MONDO:0006976 somatostatinoma skos:exactMatch SCTID:253006001 semapv:UnspecifiedMatching MONDO:0006976 somatostatinoma skos:exactMatch UMLS:C0037661 semapv:UnspecifiedMatching MONDO:0006976 somatostatinoma skos:exactMatch mesh:D013005 semapv:UnspecifiedMatching MONDO:0006977 spermatocele skos:exactMatch DOID:11997 spermatocele semapv:UnspecifiedMatching MONDO:0006977 spermatocele skos:exactMatch ICD10CM:N43.4 Spermatocele of epididymis semapv:UnspecifiedMatching MONDO:0006977 spermatocele skos:exactMatch SCTID:49263001 semapv:UnspecifiedMatching MONDO:0006977 spermatocele skos:exactMatch UMLS:C0037859 semapv:UnspecifiedMatching MONDO:0006977 spermatocele skos:exactMatch mesh:D013088 semapv:UnspecifiedMatching MONDO:0006978 splenic infarction skos:exactMatch DOID:2533 splenic infarction semapv:UnspecifiedMatching MONDO:0006978 splenic infarction skos:exactMatch ICD10CM:D73.5 Infarction of spleen semapv:UnspecifiedMatching MONDO:0006978 splenic infarction skos:exactMatch SCTID:22996003 semapv:UnspecifiedMatching MONDO:0006978 splenic infarction skos:exactMatch UMLS:C0037998 semapv:UnspecifiedMatching MONDO:0006978 splenic infarction skos:exactMatch mesh:D013159 semapv:UnspecifiedMatching MONDO:0006979 steatitis skos:exactMatch SCTID:33882007 semapv:UnspecifiedMatching MONDO:0006979 steatitis skos:exactMatch UMLS:C0038235 semapv:UnspecifiedMatching MONDO:0006979 steatitis skos:exactMatch mesh:D013231 semapv:UnspecifiedMatching MONDO:0006980 struma ovarii skos:exactMatch DOID:2640 struma ovarii semapv:UnspecifiedMatching MONDO:0006980 struma ovarii skos:exactMatch NCIT:C7468 Struma Ovarii semapv:UnspecifiedMatching MONDO:0006980 struma ovarii skos:exactMatch UMLS:C0038478 semapv:UnspecifiedMatching MONDO:0006980 struma ovarii skos:exactMatch mesh:D013330 semapv:UnspecifiedMatching MONDO:0006981 subacute bacterial endocarditis skos:exactMatch DOID:4562 subacute bacterial endocarditis semapv:UnspecifiedMatching MONDO:0006981 subacute bacterial endocarditis skos:exactMatch NCIT:C34583 Subacute Bacterial Endocarditis semapv:UnspecifiedMatching MONDO:0006981 subacute bacterial endocarditis skos:exactMatch SCTID:73774007 semapv:UnspecifiedMatching MONDO:0006981 subacute bacterial endocarditis skos:exactMatch UMLS:C0014122 semapv:UnspecifiedMatching MONDO:0006981 subacute bacterial endocarditis skos:exactMatch mesh:D004698 semapv:UnspecifiedMatching MONDO:0006982 subacute thyroiditis skos:exactMatch DOID:7165 subacute thyroiditis semapv:UnspecifiedMatching MONDO:0006982 subacute thyroiditis skos:exactMatch ICD10CM:E06.1 Subacute thyroiditis semapv:UnspecifiedMatching MONDO:0006982 subacute thyroiditis skos:exactMatch NCIT:C35071 Subacute Thyroiditis semapv:UnspecifiedMatching MONDO:0006982 subacute thyroiditis skos:exactMatch NCIT:C35828 Subacute Granulomatous Thyroiditis semapv:UnspecifiedMatching MONDO:0006982 subacute thyroiditis skos:exactMatch SCTID:428041004 semapv:UnspecifiedMatching MONDO:0006982 subacute thyroiditis skos:exactMatch UMLS:C0040149 semapv:UnspecifiedMatching MONDO:0006982 subacute thyroiditis skos:exactMatch mesh:D013968 semapv:UnspecifiedMatching MONDO:0006983 subclavian steal syndrome skos:exactMatch DOID:13002 subclavian steal syndrome semapv:UnspecifiedMatching MONDO:0006983 subclavian steal syndrome skos:exactMatch NCIT:C35044 Subclavian Steal Syndrome semapv:UnspecifiedMatching MONDO:0006983 subclavian steal syndrome skos:exactMatch SCTID:15258001 semapv:UnspecifiedMatching MONDO:0006983 subclavian steal syndrome skos:exactMatch UMLS:C0038531 semapv:UnspecifiedMatching MONDO:0006983 subclavian steal syndrome skos:exactMatch mesh:D013349 semapv:UnspecifiedMatching MONDO:0006984 subdural empyema skos:exactMatch DOID:11389 subdural empyema semapv:UnspecifiedMatching MONDO:0006984 subdural empyema skos:exactMatch SCTID:37660004 semapv:UnspecifiedMatching MONDO:0006984 subdural empyema skos:exactMatch UMLS:C0038539 semapv:UnspecifiedMatching MONDO:0006984 subdural empyema skos:exactMatch mesh:D013354 semapv:UnspecifiedMatching MONDO:0006986 substernal goiter skos:exactMatch DOID:13200 substernal goiter semapv:UnspecifiedMatching MONDO:0006986 substernal goiter skos:exactMatch SCTID:66392007 semapv:UnspecifiedMatching MONDO:0006986 substernal goiter skos:exactMatch UMLS:C0018024 semapv:UnspecifiedMatching MONDO:0006986 substernal goiter skos:exactMatch mesh:D006045 semapv:UnspecifiedMatching MONDO:0006987 subvalvular aortic stenosis skos:exactMatch DOID:5805 subvalvular aortic stenosis semapv:UnspecifiedMatching MONDO:0006987 subvalvular aortic stenosis skos:exactMatch NCIT:C85172 Subvalvular Aortic Stenosis semapv:UnspecifiedMatching MONDO:0006987 subvalvular aortic stenosis skos:exactMatch SCTID:204368006 semapv:UnspecifiedMatching MONDO:0006987 subvalvular aortic stenosis skos:exactMatch UMLS:C0340375 semapv:UnspecifiedMatching MONDO:0006987 subvalvular aortic stenosis skos:exactMatch mesh:D001020 semapv:UnspecifiedMatching MONDO:0006988 sulfhemoglobinemia skos:exactMatch DOID:12451 sulfhemoglobinemia semapv:UnspecifiedMatching MONDO:0006988 sulfhemoglobinemia skos:exactMatch SCTID:32117000 semapv:UnspecifiedMatching MONDO:0006988 sulfhemoglobinemia skos:exactMatch UMLS:C0038732 semapv:UnspecifiedMatching MONDO:0006988 sulfhemoglobinemia skos:exactMatch mesh:D013436 semapv:UnspecifiedMatching MONDO:0006989 suppurative periapical periodontitis skos:exactMatch DOID:2562 suppurative periapical periodontitis semapv:UnspecifiedMatching MONDO:0006989 suppurative periapical periodontitis skos:exactMatch NCIT:C34913 Periapical Dental Abscess semapv:UnspecifiedMatching MONDO:0006989 suppurative periapical periodontitis skos:exactMatch UMLS:C0031024 semapv:UnspecifiedMatching MONDO:0006989 suppurative periapical periodontitis skos:exactMatch mesh:D010482 semapv:UnspecifiedMatching MONDO:0006990 suppurative uveitis skos:exactMatch DOID:13140 suppurative uveitis semapv:UnspecifiedMatching MONDO:0006990 suppurative uveitis skos:exactMatch UMLS:C0042168 semapv:UnspecifiedMatching MONDO:0006990 suppurative uveitis skos:exactMatch mesh:D015829 semapv:UnspecifiedMatching MONDO:0006992 syphilitic aortitis skos:exactMatch ICD10CM:A52.02 Syphilitic aortitis semapv:UnspecifiedMatching MONDO:0006992 syphilitic aortitis skos:exactMatch SCTID:20735004 semapv:UnspecifiedMatching MONDO:0006992 syphilitic aortitis skos:exactMatch UMLS:C0003511 semapv:UnspecifiedMatching MONDO:0006993 systolic heart failure skos:exactMatch DOID:9651 systolic heart failure semapv:UnspecifiedMatching MONDO:0006993 systolic heart failure skos:exactMatch SCTID:417996009 semapv:UnspecifiedMatching MONDO:0006993 systolic heart failure skos:exactMatch UMLS:C1135191 semapv:UnspecifiedMatching MONDO:0006993 systolic heart failure skos:exactMatch mesh:D054143 semapv:UnspecifiedMatching MONDO:0006994 tarsal tunnel syndrome skos:exactMatch DOID:12526 tarsal tunnel syndrome semapv:UnspecifiedMatching MONDO:0006994 tarsal tunnel syndrome skos:exactMatch ICD10CM:G57.5 Tarsal tunnel syndrome semapv:UnspecifiedMatching MONDO:0006994 tarsal tunnel syndrome skos:exactMatch NCIT:C85183 Tarsal Tunnel Syndrome semapv:UnspecifiedMatching MONDO:0006994 tarsal tunnel syndrome skos:exactMatch SCTID:47374004 semapv:UnspecifiedMatching MONDO:0006994 tarsal tunnel syndrome skos:exactMatch UMLS:C0039319 semapv:UnspecifiedMatching MONDO:0006994 tarsal tunnel syndrome skos:exactMatch mesh:D013641 semapv:UnspecifiedMatching MONDO:0006995 tethered spinal cord syndrome skos:exactMatch DOID:1089 tethered spinal cord syndrome semapv:UnspecifiedMatching MONDO:0006995 tethered spinal cord syndrome skos:exactMatch NCIT:C99080 Tethered Spinal Cord Syndrome semapv:UnspecifiedMatching MONDO:0006995 tethered spinal cord syndrome skos:exactMatch SCTID:249491000119100 semapv:UnspecifiedMatching MONDO:0006996 thyroid crisis skos:exactMatch DOID:12837 thyroid crisis semapv:UnspecifiedMatching MONDO:0006996 thyroid crisis skos:exactMatch NCIT:C112836 Thyroid Storm semapv:UnspecifiedMatching MONDO:0006996 thyroid crisis skos:exactMatch SCTID:29028009 semapv:UnspecifiedMatching MONDO:0006996 thyroid crisis skos:exactMatch UMLS:C0040127 semapv:UnspecifiedMatching MONDO:0006996 thyroid crisis skos:exactMatch mesh:D013958 semapv:UnspecifiedMatching MONDO:0006997 tibial neuropathy skos:exactMatch DOID:1187 tibial neuropathy semapv:UnspecifiedMatching MONDO:0006997 tibial neuropathy skos:exactMatch SCTID:399076001 semapv:UnspecifiedMatching MONDO:0006997 tibial neuropathy skos:exactMatch UMLS:C0751932 semapv:UnspecifiedMatching MONDO:0006997 tibial neuropathy skos:exactMatch mesh:D020429 semapv:UnspecifiedMatching MONDO:0006998 tonsil cancer skos:exactMatch DOID:8858 tonsil cancer semapv:UnspecifiedMatching MONDO:0006998 tonsil cancer skos:exactMatch ICD10CM:C09 Malignant neoplasm of tonsil semapv:UnspecifiedMatching MONDO:0006998 tonsil cancer skos:exactMatch NCIT:C7404 Malignant Tonsillar Neoplasm semapv:UnspecifiedMatching MONDO:0006998 tonsil cancer skos:exactMatch SCTID:363393007 semapv:UnspecifiedMatching MONDO:0006998 tonsil cancer skos:exactMatch UMLS:C0751560 semapv:UnspecifiedMatching MONDO:0006998 tonsil cancer skos:exactMatch mesh:D014067 semapv:UnspecifiedMatching MONDO:0006999 tooth disorder skos:exactMatch DOID:1091 tooth disease semapv:UnspecifiedMatching MONDO:0006999 tooth disorder skos:exactMatch NCIT:C35077 Dental Disorder semapv:UnspecifiedMatching MONDO:0006999 tooth disorder skos:exactMatch SCTID:234947003 semapv:UnspecifiedMatching MONDO:0006999 tooth disorder skos:exactMatch UMLS:C0040435 semapv:UnspecifiedMatching MONDO:0006999 tooth disorder skos:exactMatch mesh:D014076 semapv:UnspecifiedMatching MONDO:0007000 Treponema infectious disease skos:exactMatch NCIT:C85197 Treponemal Infection semapv:UnspecifiedMatching MONDO:0007000 Treponema infectious disease skos:exactMatch mesh:D014211 semapv:UnspecifiedMatching MONDO:0007001 tricuspid valve prolapse skos:exactMatch DOID:5644 tricuspid valve prolapse semapv:UnspecifiedMatching MONDO:0007001 tricuspid valve prolapse skos:exactMatch SCTID:253383003 semapv:UnspecifiedMatching MONDO:0007001 tricuspid valve prolapse skos:exactMatch UMLS:C0040962 semapv:UnspecifiedMatching MONDO:0007001 tricuspid valve prolapse skos:exactMatch mesh:D014263 semapv:UnspecifiedMatching MONDO:0007002 trochlear nerve disorder skos:exactMatch DOID:13864 trochlear nerve disease semapv:UnspecifiedMatching MONDO:0007002 trochlear nerve disorder skos:exactMatch NCIT:C78395 Trochlear Nerve Disorder semapv:UnspecifiedMatching MONDO:0007002 trochlear nerve disorder skos:exactMatch mesh:D020432 semapv:UnspecifiedMatching MONDO:0007004 type III hypersensitivity disease skos:exactMatch DOID:1557 hypersensitivity reaction type III disease semapv:UnspecifiedMatching MONDO:0007004 type III hypersensitivity disease skos:exactMatch NCIT:C114346 Type III Hypersensitivity semapv:UnspecifiedMatching MONDO:0007004 type III hypersensitivity disease skos:exactMatch UMLS:C0020951 semapv:UnspecifiedMatching MONDO:0007004 type III hypersensitivity disease skos:exactMatch mesh:D007105 semapv:UnspecifiedMatching MONDO:0007005 ulcerative proctosigmoiditis skos:exactMatch SCTID:52506002 semapv:UnspecifiedMatching MONDO:0007006 ulnar neuropathy skos:exactMatch DOID:4613 ulnar neuropathy semapv:UnspecifiedMatching MONDO:0007006 ulnar neuropathy skos:exactMatch SCTID:359837005 semapv:UnspecifiedMatching MONDO:0007006 ulnar neuropathy skos:exactMatch UMLS:C0154743 semapv:UnspecifiedMatching MONDO:0007006 ulnar neuropathy skos:exactMatch mesh:D020424 semapv:UnspecifiedMatching MONDO:0007007 Ureaplasma urethritis skos:exactMatch SCTID:51105006 semapv:UnspecifiedMatching MONDO:0007007 Ureaplasma urethritis skos:exactMatch mesh:D016869 semapv:UnspecifiedMatching MONDO:0007008 uremia skos:exactMatch DOID:4676 uremia semapv:UnspecifiedMatching MONDO:0007008 uremia skos:exactMatch SCTID:44730006 semapv:UnspecifiedMatching MONDO:0007008 uremia skos:exactMatch UMLS:C0041948 semapv:UnspecifiedMatching MONDO:0007008 uremia skos:exactMatch mesh:D014511 semapv:UnspecifiedMatching MONDO:0007009 ureterolithiasis skos:exactMatch DOID:14146 ureterolithiasis semapv:UnspecifiedMatching MONDO:0007009 ureterolithiasis skos:exactMatch NCIT:C114696 Ureterolithiasis semapv:UnspecifiedMatching MONDO:0007009 ureterolithiasis skos:exactMatch SCTID:31054009 semapv:UnspecifiedMatching MONDO:0007009 ureterolithiasis skos:exactMatch UMLS:C0041952 semapv:UnspecifiedMatching MONDO:0007009 ureterolithiasis skos:exactMatch mesh:D053039 semapv:UnspecifiedMatching MONDO:0007011 uveoparotid fever skos:exactMatch DOID:13404 uveoparotid fever semapv:UnspecifiedMatching MONDO:0007011 uveoparotid fever skos:exactMatch SCTID:4416007 semapv:UnspecifiedMatching MONDO:0007011 uveoparotid fever skos:exactMatch UMLS:C0042171 semapv:UnspecifiedMatching MONDO:0007011 uveoparotid fever skos:exactMatch mesh:D014608 semapv:UnspecifiedMatching MONDO:0007012 variant Creutzfeldt-Jakob disease skos:exactMatch DOID:5435 variant Creutzfeldt-Jakob disease semapv:UnspecifiedMatching MONDO:0007012 variant Creutzfeldt-Jakob disease skos:exactMatch ICD10CM:A81.01 Variant Creutzfeldt-Jakob disease semapv:UnspecifiedMatching MONDO:0007012 variant Creutzfeldt-Jakob disease skos:exactMatch NCIT:C128438 Variant Creutzfeldt-Jakob Disease semapv:UnspecifiedMatching MONDO:0007012 variant Creutzfeldt-Jakob disease skos:exactMatch Orphanet:576370 Variant Creutzfeldt-Jakob disease semapv:UnspecifiedMatching MONDO:0007012 variant Creutzfeldt-Jakob disease skos:exactMatch SCTID:304603007 semapv:UnspecifiedMatching MONDO:0007012 variant Creutzfeldt-Jakob disease skos:exactMatch UMLS:C0376329 semapv:UnspecifiedMatching MONDO:0007013 vasculogenic impotence skos:exactMatch DOID:4762 vasculogenic impotence semapv:UnspecifiedMatching MONDO:0007013 vasculogenic impotence skos:exactMatch UMLS:C0243000 semapv:UnspecifiedMatching MONDO:0007013 vasculogenic impotence skos:exactMatch mesh:D018783 semapv:UnspecifiedMatching MONDO:0007014 vibrio infectious disease skos:exactMatch UMLS:C0042636 semapv:UnspecifiedMatching MONDO:0007014 vibrio infectious disease skos:exactMatch mesh:D014735 semapv:UnspecifiedMatching MONDO:0007015 viral meningitis skos:exactMatch DOID:10310 viral meningitis semapv:UnspecifiedMatching MONDO:0007015 viral meningitis skos:exactMatch ICD10CM:A87 Viral meningitis semapv:UnspecifiedMatching MONDO:0007015 viral meningitis skos:exactMatch NCIT:C118298 Viral Meningitis semapv:UnspecifiedMatching MONDO:0007015 viral meningitis skos:exactMatch SCTID:58170007 semapv:UnspecifiedMatching MONDO:0007015 viral meningitis skos:exactMatch UMLS:C0025297 semapv:UnspecifiedMatching MONDO:0007015 viral meningitis skos:exactMatch mesh:D008587 semapv:UnspecifiedMatching MONDO:0007016 vitamin A deficiency skos:exactMatch NCIT:C85220 Vitamin A Deficiency semapv:UnspecifiedMatching MONDO:0007016 vitamin A deficiency skos:exactMatch SCTID:72000004 semapv:UnspecifiedMatching MONDO:0007016 vitamin A deficiency skos:exactMatch UMLS:C0042842 semapv:UnspecifiedMatching MONDO:0007016 vitamin A deficiency skos:exactMatch mesh:D014802 semapv:UnspecifiedMatching MONDO:0007017 vitreous detachment skos:exactMatch DOID:9726 vitreous detachment semapv:UnspecifiedMatching MONDO:0007017 vitreous detachment skos:exactMatch NCIT:C50807 Vitreous Detachment semapv:UnspecifiedMatching MONDO:0007017 vitreous detachment skos:exactMatch SCTID:53772007 semapv:UnspecifiedMatching MONDO:0007017 vitreous detachment skos:exactMatch UMLS:C0423361 semapv:UnspecifiedMatching MONDO:0007017 vitreous detachment skos:exactMatch mesh:D020255 semapv:UnspecifiedMatching MONDO:0007018 vulvitis skos:exactMatch DOID:3901 vulvitis semapv:UnspecifiedMatching MONDO:0007018 vulvitis skos:exactMatch SCTID:63144007 semapv:UnspecifiedMatching MONDO:0007018 vulvitis skos:exactMatch UMLS:C0042996 semapv:UnspecifiedMatching MONDO:0007018 vulvitis skos:exactMatch mesh:D014847 semapv:UnspecifiedMatching MONDO:0007019 vulvovaginitis skos:exactMatch DOID:2273 vulvovaginitis semapv:UnspecifiedMatching MONDO:0007019 vulvovaginitis skos:exactMatch NCIT:C35131 Vulvovaginitis semapv:UnspecifiedMatching MONDO:0007019 vulvovaginitis skos:exactMatch SCTID:53277000 semapv:UnspecifiedMatching MONDO:0007019 vulvovaginitis skos:exactMatch UMLS:C0042998 semapv:UnspecifiedMatching MONDO:0007019 vulvovaginitis skos:exactMatch mesh:D014848 semapv:UnspecifiedMatching MONDO:0007020 Wernicke encephalopathy skos:exactMatch DOID:2384 Wernicke encephalopathy semapv:UnspecifiedMatching MONDO:0007020 Wernicke encephalopathy skos:exactMatch ICD10CM:E51.2 Wernicke's encephalopathy semapv:UnspecifiedMatching MONDO:0007020 Wernicke encephalopathy skos:exactMatch SCTID:21007002 semapv:UnspecifiedMatching MONDO:0007020 Wernicke encephalopathy skos:exactMatch UMLS:C0043121 semapv:UnspecifiedMatching MONDO:0007020 Wernicke encephalopathy skos:exactMatch mesh:D014899 semapv:UnspecifiedMatching MONDO:0007021 obsolete wheat allergic disease skos:exactMatch DOID:3660 wheat allergy semapv:UnspecifiedMatching MONDO:0007021 obsolete wheat allergic disease skos:exactMatch SCTID:420174000 semapv:UnspecifiedMatching MONDO:0007021 obsolete wheat allergic disease skos:exactMatch UMLS:C0949570 semapv:UnspecifiedMatching MONDO:0007021 obsolete wheat allergic disease skos:exactMatch mesh:D021182 semapv:UnspecifiedMatching MONDO:0007022 xanthogranulomatous pyelonephritis skos:exactMatch DOID:11401 xanthogranulomatous pyelonephritis semapv:UnspecifiedMatching MONDO:0007022 xanthogranulomatous pyelonephritis skos:exactMatch NCIT:C123038 Xanthogranulomatous Pyelonephritis semapv:UnspecifiedMatching MONDO:0007022 xanthogranulomatous pyelonephritis skos:exactMatch SCTID:38898003 semapv:UnspecifiedMatching MONDO:0007022 xanthogranulomatous pyelonephritis skos:exactMatch UMLS:C0034188 semapv:UnspecifiedMatching MONDO:0007022 xanthogranulomatous pyelonephritis skos:exactMatch mesh:D011705 semapv:UnspecifiedMatching MONDO:0007023 Yersinia infectious disease skos:exactMatch NCIT:C128337 Yersiniosis semapv:UnspecifiedMatching MONDO:0007023 Yersinia infectious disease skos:exactMatch SCTID:83436008 semapv:UnspecifiedMatching MONDO:0007023 Yersinia infectious disease skos:exactMatch mesh:D015009 semapv:UnspecifiedMatching MONDO:0007024 Yersinia pseudotuberculosis infectious disease skos:exactMatch SCTID:36753006 semapv:UnspecifiedMatching MONDO:0007024 Yersinia pseudotuberculosis infectious disease skos:exactMatch UMLS:C0043410 semapv:UnspecifiedMatching MONDO:0007024 Yersinia pseudotuberculosis infectious disease skos:exactMatch mesh:D015012 semapv:UnspecifiedMatching MONDO:0007025 chancre skos:exactMatch mesh:D002601 semapv:UnspecifiedMatching MONDO:0007027 metabolic dysfunction-associated steatohepatitis skos:exactMatch DOID:0080547 metabolic dysfunction-associated steatohepatitis semapv:UnspecifiedMatching MONDO:0007027 metabolic dysfunction-associated steatohepatitis skos:exactMatch NCIT:C84445 Nonalcoholic Steatohepatitis semapv:UnspecifiedMatching MONDO:0007028 rotator cuff syndrome skos:exactMatch ICD10CM:M75.1 Rotator cuff tear or rupture, not specified as traumatic semapv:UnspecifiedMatching MONDO:0007028 rotator cuff syndrome skos:exactMatch ICD10WHO:M75.1 Rotator cuff syndrome semapv:UnspecifiedMatching MONDO:0007028 rotator cuff syndrome skos:exactMatch SCTID:4106009 semapv:UnspecifiedMatching MONDO:0007028 rotator cuff syndrome skos:exactMatch UMLS:C0263912 semapv:UnspecifiedMatching MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch DOID:14702 branchiootorenal syndrome semapv:UnspecifiedMatching MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch NCIT:C98983 Melnick-Fraser Syndrome semapv:UnspecifiedMatching MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch Orphanet:107 BOR syndrome semapv:UnspecifiedMatching MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch SCTID:290006 semapv:UnspecifiedMatching MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch UMLS:C0265234 semapv:UnspecifiedMatching MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch mesh:D019280 semapv:UnspecifiedMatching MONDO:0007030 autosomal dominant Aarskog syndrome skos:exactMatch DOID:0111825 autosomal dominant Aarskog syndrome semapv:UnspecifiedMatching MONDO:0007030 autosomal dominant Aarskog syndrome skos:exactMatch OMIM:100050 aarskog syndrome, autosomal dominant semapv:UnspecifiedMatching MONDO:0007031 familial abdominal aortic aneurysm skos:exactMatch OMIMPS:100070 semapv:UnspecifiedMatching MONDO:0007031 familial abdominal aortic aneurysm skos:exactMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:UnspecifiedMatching MONDO:0007031 familial abdominal aortic aneurysm skos:exactMatch SCTID:715364001 semapv:UnspecifiedMatching MONDO:0007031 familial abdominal aortic aneurysm skos:exactMatch UMLS:C4275172 semapv:UnspecifiedMatching MONDO:0007032 prune belly syndrome skos:exactMatch DOID:0060889 prune belly syndrome semapv:UnspecifiedMatching MONDO:0007032 prune belly syndrome skos:exactMatch NCIT:C85033 Prune Belly Syndrome semapv:UnspecifiedMatching MONDO:0007032 prune belly syndrome skos:exactMatch OMIM:100100 prune belly syndrome semapv:UnspecifiedMatching MONDO:0007032 prune belly syndrome skos:exactMatch Orphanet:2970 Prune belly syndrome semapv:UnspecifiedMatching MONDO:0007032 prune belly syndrome skos:exactMatch SCTID:5187006 semapv:UnspecifiedMatching MONDO:0007032 prune belly syndrome skos:exactMatch UMLS:C0033770 semapv:UnspecifiedMatching MONDO:0007032 prune belly syndrome skos:exactMatch mesh:D011535 semapv:UnspecifiedMatching MONDO:0007033 abducens nerve palsy skos:exactMatch DOID:10865 abducens nerve palsy semapv:UnspecifiedMatching MONDO:0007033 abducens nerve palsy skos:exactMatch NCIT:C27592 Cranial Nerve VI Palsy semapv:UnspecifiedMatching MONDO:0007033 abducens nerve palsy skos:exactMatch OMIM:100200 abducens palsy semapv:UnspecifiedMatching MONDO:0007033 abducens nerve palsy skos:exactMatch SCTID:398963001 semapv:UnspecifiedMatching MONDO:0007034 Adams-Oliver syndrome skos:exactMatch DOID:0060227 Adams-Oliver syndrome semapv:UnspecifiedMatching MONDO:0007034 Adams-Oliver syndrome skos:exactMatch OMIMPS:100300 semapv:UnspecifiedMatching MONDO:0007034 Adams-Oliver syndrome skos:exactMatch Orphanet:974 Adams-Oliver syndrome semapv:UnspecifiedMatching MONDO:0007034 Adams-Oliver syndrome skos:exactMatch SCTID:34748004 semapv:UnspecifiedMatching MONDO:0007034 Adams-Oliver syndrome skos:exactMatch UMLS:C0265268 semapv:UnspecifiedMatching MONDO:0007034 Adams-Oliver syndrome skos:exactMatch mesh:C538225 semapv:UnspecifiedMatching MONDO:0007035 acanthosis nigricans skos:exactMatch DOID:3138 acanthosis nigricans semapv:UnspecifiedMatching MONDO:0007035 acanthosis nigricans skos:exactMatch ICD10CM:L83 Acanthosis nigricans semapv:UnspecifiedMatching MONDO:0007035 acanthosis nigricans skos:exactMatch NCIT:C26687 Acanthosis Nigricans semapv:UnspecifiedMatching MONDO:0007035 acanthosis nigricans skos:exactMatch SCTID:402599005 semapv:UnspecifiedMatching MONDO:0007035 acanthosis nigricans skos:exactMatch UMLS:C0000889 semapv:UnspecifiedMatching MONDO:0007035 acanthosis nigricans skos:exactMatch mesh:D000052 semapv:UnspecifiedMatching MONDO:0007036 Achard syndrome skos:exactMatch DOID:6686 Achard syndrome semapv:UnspecifiedMatching MONDO:0007036 Achard syndrome skos:exactMatch NCIT:C35809 Achard Syndrome semapv:UnspecifiedMatching MONDO:0007036 Achard syndrome skos:exactMatch OMIM:100700 achard syndrome semapv:UnspecifiedMatching MONDO:0007036 Achard syndrome skos:exactMatch UMLS:C1332135 semapv:UnspecifiedMatching MONDO:0007036 Achard syndrome skos:exactMatch mesh:C536012 semapv:UnspecifiedMatching MONDO:0007037 Achondroplasia skos:exactMatch DOID:4480 achondroplasia semapv:UnspecifiedMatching MONDO:0007037 Achondroplasia skos:exactMatch ICD10CM:Q77.4 Achondroplasia semapv:UnspecifiedMatching MONDO:0007037 Achondroplasia skos:exactMatch NCIT:C34345 Achondroplasia semapv:UnspecifiedMatching MONDO:0007037 Achondroplasia skos:exactMatch OMIM:100800 achondroplasia semapv:UnspecifiedMatching MONDO:0007037 Achondroplasia skos:exactMatch Orphanet:15 Achondroplasia semapv:UnspecifiedMatching MONDO:0007037 Achondroplasia skos:exactMatch SCTID:86268005 semapv:UnspecifiedMatching MONDO:0007037 Achondroplasia skos:exactMatch UMLS:C0001080 semapv:UnspecifiedMatching MONDO:0007037 Achondroplasia skos:exactMatch mesh:D000130 semapv:UnspecifiedMatching MONDO:0007038 Achoo syndrome skos:exactMatch OMIM:100820 achoo syndrome semapv:UnspecifiedMatching MONDO:0007038 Achoo syndrome skos:exactMatch UMLS:C1863416 semapv:UnspecifiedMatching MONDO:0007038 Achoo syndrome skos:exactMatch mesh:C535300 semapv:UnspecifiedMatching MONDO:0007039 neurofibromatosis type 2 skos:exactMatch DOID:0111252 vestibular schwannomatosis semapv:UnspecifiedMatching MONDO:0007039 neurofibromatosis type 2 skos:exactMatch ICD10CM:Q85.02 Neurofibromatosis, type 2 semapv:UnspecifiedMatching MONDO:0007039 neurofibromatosis type 2 skos:exactMatch NCIT:C3274 Neurofibromatosis Type 2 semapv:UnspecifiedMatching MONDO:0007039 neurofibromatosis type 2 skos:exactMatch OMIM:101000 schwannomatosis, vestibular semapv:UnspecifiedMatching MONDO:0007039 neurofibromatosis type 2 skos:exactMatch Orphanet:637 Full NF2-related schwannomatosis semapv:UnspecifiedMatching MONDO:0007039 neurofibromatosis type 2 skos:exactMatch SCTID:92503002 semapv:UnspecifiedMatching MONDO:0007039 neurofibromatosis type 2 skos:exactMatch UMLS:C0027832 semapv:UnspecifiedMatching MONDO:0007040 Sakati-Nyhan syndrome skos:exactMatch DOID:0060359 Sakati-Nyhan syndrome semapv:UnspecifiedMatching MONDO:0007040 Sakati-Nyhan syndrome skos:exactMatch OMIM:101120 acrocephalopolysyndactyly iia 3 semapv:UnspecifiedMatching MONDO:0007040 Sakati-Nyhan syndrome skos:exactMatch SCTID:403768004 semapv:UnspecifiedMatching MONDO:0007040 Sakati-Nyhan syndrome skos:exactMatch UMLS:C1275079 semapv:UnspecifiedMatching MONDO:0007040 Sakati-Nyhan syndrome skos:exactMatch mesh:C537227 semapv:UnspecifiedMatching MONDO:0007041 Apert syndrome skos:exactMatch NCIT:C99099 Type I Acrocephalosyndactyly semapv:UnspecifiedMatching MONDO:0007041 Apert syndrome skos:exactMatch OMIM:101200 apert syndrome semapv:UnspecifiedMatching MONDO:0007041 Apert syndrome skos:exactMatch Orphanet:87 Apert syndrome semapv:UnspecifiedMatching MONDO:0007041 Apert syndrome skos:exactMatch SCTID:205258009 semapv:UnspecifiedMatching MONDO:0007041 Apert syndrome skos:exactMatch UMLS:C0001193 semapv:UnspecifiedMatching MONDO:0007041 Apert syndrome skos:exactMatch mesh:D000168 semapv:UnspecifiedMatching MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch DOID:14768 Saethre-Chotzen syndrome semapv:UnspecifiedMatching MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch NCIT:C75034 Type III Acrocephalosyndactyly semapv:UnspecifiedMatching MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch OMIM:101400 saethre-chotzen syndrome semapv:UnspecifiedMatching MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch Orphanet:794 Saethre-Chotzen syndrome semapv:UnspecifiedMatching MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch SCTID:83015004 semapv:UnspecifiedMatching MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch UMLS:C0175699 semapv:UnspecifiedMatching MONDO:0007043 Pfeiffer syndrome skos:exactMatch DOID:14705 Pfeiffer syndrome semapv:UnspecifiedMatching MONDO:0007043 Pfeiffer syndrome skos:exactMatch NCIT:C99100 Type V Acrocephalosyndactyly semapv:UnspecifiedMatching MONDO:0007043 Pfeiffer syndrome skos:exactMatch OMIM:101600 pfeiffer syndrome semapv:UnspecifiedMatching MONDO:0007043 Pfeiffer syndrome skos:exactMatch Orphanet:710 Pfeiffer syndrome semapv:UnspecifiedMatching MONDO:0007043 Pfeiffer syndrome skos:exactMatch SCTID:70410008 semapv:UnspecifiedMatching MONDO:0007043 Pfeiffer syndrome skos:exactMatch UMLS:C0220658 semapv:UnspecifiedMatching MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:exactMatch NCIT:C136464 Acrodysostosis 1 semapv:UnspecifiedMatching MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:exactMatch OMIM:101800 acrodysostosis 1 with or without hormone resistance semapv:UnspecifiedMatching MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:exactMatch UMLS:C3276228 semapv:UnspecifiedMatching MONDO:0007045 acrofacial dysostosis, Catania type skos:exactMatch DOID:0060384 acrofacial dysostosis, Catania type semapv:UnspecifiedMatching MONDO:0007045 acrofacial dysostosis, Catania type skos:exactMatch OMIM:101805 acrofacial dysostosis, catania iia semapv:UnspecifiedMatching MONDO:0007045 acrofacial dysostosis, Catania type skos:exactMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:UnspecifiedMatching MONDO:0007045 acrofacial dysostosis, Catania type skos:exactMatch SCTID:720419000 semapv:UnspecifiedMatching MONDO:0007045 acrofacial dysostosis, Catania type skos:exactMatch UMLS:C2931762 semapv:UnspecifiedMatching MONDO:0007045 acrofacial dysostosis, Catania type skos:exactMatch mesh:C538182 semapv:UnspecifiedMatching MONDO:0007046 hereditary papulotranslucent acrokeratoderma skos:exactMatch DOID:0060360 hereditary papulotranslucent acrokeratoderma semapv:UnspecifiedMatching MONDO:0007046 hereditary papulotranslucent acrokeratoderma skos:exactMatch OMIM:101840 acrokeratoderma, hereditary papulotranslucent semapv:UnspecifiedMatching MONDO:0007046 hereditary papulotranslucent acrokeratoderma skos:exactMatch UMLS:C1863343 semapv:UnspecifiedMatching MONDO:0007046 hereditary papulotranslucent acrokeratoderma skos:exactMatch mesh:C566323 semapv:UnspecifiedMatching MONDO:0007047 punctate palmoplantar keratoderma type III skos:exactMatch DOID:0060362 punctate palmoplantar keratoderma type III semapv:UnspecifiedMatching MONDO:0007047 punctate palmoplantar keratoderma type III skos:exactMatch OMIM:101850 palmoplantar keratoderma, punctate iia 3 semapv:UnspecifiedMatching MONDO:0007047 punctate palmoplantar keratoderma type III skos:exactMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:UnspecifiedMatching MONDO:0007047 punctate palmoplantar keratoderma type III skos:exactMatch UMLS:C0545044 semapv:UnspecifiedMatching MONDO:0007047 punctate palmoplantar keratoderma type III skos:exactMatch mesh:C535653 semapv:UnspecifiedMatching MONDO:0007048 acrokeratosis verruciformis skos:exactMatch DOID:0050606 acrokeratosis verruciformis semapv:UnspecifiedMatching MONDO:0007048 acrokeratosis verruciformis skos:exactMatch NCIT:C27519 Acrokeratosis Verruciformis semapv:UnspecifiedMatching MONDO:0007048 acrokeratosis verruciformis skos:exactMatch OMIM:101900 acrokeratosis verruciformis semapv:UnspecifiedMatching MONDO:0007048 acrokeratosis verruciformis skos:exactMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:UnspecifiedMatching MONDO:0007048 acrokeratosis verruciformis skos:exactMatch SCTID:400085009 semapv:UnspecifiedMatching MONDO:0007048 acrokeratosis verruciformis skos:exactMatch UMLS:C0265971 semapv:UnspecifiedMatching MONDO:0007049 acroleukopathy, symmetric skos:exactMatch OMIM:102000 acroleukopathy, symmetric semapv:UnspecifiedMatching MONDO:0007049 acroleukopathy, symmetric skos:exactMatch UMLS:C1863342 semapv:UnspecifiedMatching MONDO:0007049 acroleukopathy, symmetric skos:exactMatch mesh:C566322 semapv:UnspecifiedMatching MONDO:0007050 acromegaloid changes, cutis verticis gyrata, and corneal leukoma skos:exactMatch OMIM:102100 acromegaloid changes, cutis verticis gyrata, and corneal leukoma semapv:UnspecifiedMatching MONDO:0007050 acromegaloid changes, cutis verticis gyrata, and corneal leukoma skos:exactMatch UMLS:C1321495 semapv:UnspecifiedMatching MONDO:0007050 acromegaloid changes, cutis verticis gyrata, and corneal leukoma skos:exactMatch mesh:C535654 semapv:UnspecifiedMatching MONDO:0007051 acromegaloid facial appearance syndrome skos:exactMatch OMIM:102150 acromegaloid facial appearance syndrome semapv:UnspecifiedMatching MONDO:0007051 acromegaloid facial appearance syndrome skos:exactMatch SCTID:720456009 semapv:UnspecifiedMatching MONDO:0007051 acromegaloid facial appearance syndrome skos:exactMatch UMLS:C0796280 semapv:UnspecifiedMatching MONDO:0007051 acromegaloid facial appearance syndrome skos:exactMatch mesh:C535655 semapv:UnspecifiedMatching MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:exactMatch DOID:0112009 pituitary adenoma 1 semapv:UnspecifiedMatching MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:exactMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:UnspecifiedMatching MONDO:0007053 restless legs syndrome, susceptibility to, 1 skos:exactMatch OMIM:102300 restless legs syndrome, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0007053 restless legs syndrome, susceptibility to, 1 skos:exactMatch UMLS:C1876177 semapv:UnspecifiedMatching MONDO:0007053 restless legs syndrome, susceptibility to, 1 skos:exactMatch mesh:C538443 semapv:UnspecifiedMatching MONDO:0007054 acromial dimples skos:exactMatch OMIM:102350 acromial dimples semapv:UnspecifiedMatching MONDO:0007055 Acromicric dysplasia skos:exactMatch DOID:0111243 acromicric dysplasia semapv:UnspecifiedMatching MONDO:0007055 Acromicric dysplasia skos:exactMatch OMIM:102370 acromicric dysplasia semapv:UnspecifiedMatching MONDO:0007055 Acromicric dysplasia skos:exactMatch Orphanet:969 Acromicric dysplasia semapv:UnspecifiedMatching MONDO:0007055 Acromicric dysplasia skos:exactMatch SCTID:254090007 semapv:UnspecifiedMatching MONDO:0007055 Acromicric dysplasia skos:exactMatch mesh:C535662 semapv:UnspecifiedMatching MONDO:0007056 acroosteolysis skos:exactMatch NCIT:C35545 Acroosteolysis semapv:UnspecifiedMatching MONDO:0007056 acroosteolysis skos:exactMatch OMIM:102400 acroosteolysis semapv:UnspecifiedMatching MONDO:0007056 acroosteolysis skos:exactMatch SCTID:27201004 semapv:UnspecifiedMatching MONDO:0007056 acroosteolysis skos:exactMatch mesh:D030981 semapv:UnspecifiedMatching MONDO:0007057 Acroosteolysis dominant type skos:exactMatch DOID:2736 Hajdu-Cheney syndrome semapv:UnspecifiedMatching MONDO:0007057 Acroosteolysis dominant type skos:exactMatch NCIT:C84745 Hajdu-Cheney Syndrome semapv:UnspecifiedMatching MONDO:0007057 Acroosteolysis dominant type skos:exactMatch OMIM:102500 hajdu-cheney syndrome semapv:UnspecifiedMatching MONDO:0007057 Acroosteolysis dominant type skos:exactMatch Orphanet:955 Hajdu-Cheney syndrome semapv:UnspecifiedMatching MONDO:0007057 Acroosteolysis dominant type skos:exactMatch SCTID:63122002 semapv:UnspecifiedMatching MONDO:0007057 Acroosteolysis dominant type skos:exactMatch UMLS:C0917715 semapv:UnspecifiedMatching MONDO:0007057 Acroosteolysis dominant type skos:exactMatch mesh:C535663 semapv:UnspecifiedMatching MONDO:0007057 Acroosteolysis dominant type skos:exactMatch mesh:C537586 semapv:UnspecifiedMatching MONDO:0007058 Acropectorovertebral dysplasia skos:exactMatch OMIM:102510 acropectorovertebral dysplasia semapv:UnspecifiedMatching MONDO:0007058 Acropectorovertebral dysplasia skos:exactMatch Orphanet:957 Acropectorovertebral dysplasia semapv:UnspecifiedMatching MONDO:0007058 Acropectorovertebral dysplasia skos:exactMatch SCTID:720457000 semapv:UnspecifiedMatching MONDO:0007058 Acropectorovertebral dysplasia skos:exactMatch UMLS:C1863307 semapv:UnspecifiedMatching MONDO:0007058 Acropectorovertebral dysplasia skos:exactMatch mesh:C566319 semapv:UnspecifiedMatching MONDO:0007059 acrorenal syndrome skos:exactMatch DOID:0060347 acrorenal syndrome semapv:UnspecifiedMatching MONDO:0007059 acrorenal syndrome skos:exactMatch OMIM:102520 acrorenal syndrome semapv:UnspecifiedMatching MONDO:0007059 acrorenal syndrome skos:exactMatch Orphanet:971 Acrorenal syndrome semapv:UnspecifiedMatching MONDO:0007059 acrorenal syndrome skos:exactMatch SCTID:720458005 semapv:UnspecifiedMatching MONDO:0007059 acrorenal syndrome skos:exactMatch UMLS:C3495490 semapv:UnspecifiedMatching MONDO:0007059 acrorenal syndrome skos:exactMatch mesh:C563159 semapv:UnspecifiedMatching MONDO:0007060 spermatogenic failure 6 skos:exactMatch DOID:0070167 spermatogenic failure 6 semapv:UnspecifiedMatching MONDO:0007060 spermatogenic failure 6 skos:exactMatch OMIM:102530 spermatogenic failure 6 semapv:UnspecifiedMatching MONDO:0007060 spermatogenic failure 6 skos:exactMatch SCTID:236818008 semapv:UnspecifiedMatching MONDO:0007061 obsolete acylase, cobalt-activated skos:exactMatch OMIM:102590 semapv:UnspecifiedMatching MONDO:0007062 adactylia, unilateral skos:exactMatch OMIM:102650 adactylia, unilateral semapv:UnspecifiedMatching MONDO:0007062 adactylia, unilateral skos:exactMatch Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:UnspecifiedMatching MONDO:0007062 adactylia, unilateral skos:exactMatch mesh:C562417 semapv:UnspecifiedMatching MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch DOID:5810 adenosine deaminase deficiency semapv:UnspecifiedMatching MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch NCIT:C3962 Adenosine Deaminase Deficiency semapv:UnspecifiedMatching MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:UnspecifiedMatching MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:UnspecifiedMatching MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch SCTID:44940001 semapv:UnspecifiedMatching MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch mesh:C531816 semapv:UnspecifiedMatching MONDO:0007066 adenosine triphosphatase deficiency, anemia due to skos:exactMatch OMIM:102800 adenosine triphosphatase deficiency, anemia due to semapv:UnspecifiedMatching MONDO:0007066 adenosine triphosphatase deficiency, anemia due to skos:exactMatch SCTID:725057008 semapv:UnspecifiedMatching MONDO:0007066 adenosine triphosphatase deficiency, anemia due to skos:exactMatch UMLS:C1863225 semapv:UnspecifiedMatching MONDO:0007066 adenosine triphosphatase deficiency, anemia due to skos:exactMatch mesh:C566311 semapv:UnspecifiedMatching MONDO:0007067 pyruvate kinase hyperactivity skos:exactMatch OMIM:102900 adenosine triphosphate, elevated, of erythrocytes semapv:UnspecifiedMatching MONDO:0007067 pyruvate kinase hyperactivity skos:exactMatch UMLS:C1863224 semapv:UnspecifiedMatching MONDO:0007067 pyruvate kinase hyperactivity skos:exactMatch mesh:C566310 semapv:UnspecifiedMatching MONDO:0007068 adenylosuccinate lyase deficiency skos:exactMatch DOID:0050762 adenylosuccinase lyase deficiency semapv:UnspecifiedMatching MONDO:0007068 adenylosuccinate lyase deficiency skos:exactMatch OMIM:103050 adenylosuccinase deficiency semapv:UnspecifiedMatching MONDO:0007068 adenylosuccinate lyase deficiency skos:exactMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:UnspecifiedMatching MONDO:0007068 adenylosuccinate lyase deficiency skos:exactMatch SCTID:15285008 semapv:UnspecifiedMatching MONDO:0007068 adenylosuccinate lyase deficiency skos:exactMatch UMLS:C0268126 semapv:UnspecifiedMatching MONDO:0007068 adenylosuccinate lyase deficiency skos:exactMatch mesh:C538235 semapv:UnspecifiedMatching MONDO:0007070 adiposis dolorosa skos:exactMatch DOID:3928 adiposis dolorosa semapv:UnspecifiedMatching MONDO:0007070 adiposis dolorosa skos:exactMatch NCIT:C84540 Adiposis Dolorosa semapv:UnspecifiedMatching MONDO:0007070 adiposis dolorosa skos:exactMatch OMIM:103200 adiposis dolorosa semapv:UnspecifiedMatching MONDO:0007070 adiposis dolorosa skos:exactMatch Orphanet:36397 Adiposis dolorosa semapv:UnspecifiedMatching MONDO:0007070 adiposis dolorosa skos:exactMatch SCTID:71404003 semapv:UnspecifiedMatching MONDO:0007070 adiposis dolorosa skos:exactMatch UMLS:C0001529 semapv:UnspecifiedMatching MONDO:0007070 adiposis dolorosa skos:exactMatch mesh:D000274 semapv:UnspecifiedMatching MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:exactMatch OMIM:103230 adrenocortical hypofunction, chronic primary congenital semapv:UnspecifiedMatching MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:exactMatch SCTID:12427005 semapv:UnspecifiedMatching MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:exactMatch UMLS:C0271740 semapv:UnspecifiedMatching MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:exactMatch mesh:C562711 semapv:UnspecifiedMatching MONDO:0007072 ADULT syndrome skos:exactMatch DOID:0050601 ADULT syndrome semapv:UnspecifiedMatching MONDO:0007072 ADULT syndrome skos:exactMatch OMIM:103285 adult syndrome semapv:UnspecifiedMatching MONDO:0007072 ADULT syndrome skos:exactMatch Orphanet:978 ADULT syndrome semapv:UnspecifiedMatching MONDO:0007072 ADULT syndrome skos:exactMatch SCTID:720464003 semapv:UnspecifiedMatching MONDO:0007072 ADULT syndrome skos:exactMatch UMLS:C1863204 semapv:UnspecifiedMatching MONDO:0007072 ADULT syndrome skos:exactMatch mesh:C538052 semapv:UnspecifiedMatching MONDO:0007073 Hypoglossia-hypodactyly syndrome skos:exactMatch OMIM:103300 hypoglossia-hypodactylia semapv:UnspecifiedMatching MONDO:0007073 Hypoglossia-hypodactyly syndrome skos:exactMatch Orphanet:989 Hypoglossia-hypodactyly syndrome semapv:UnspecifiedMatching MONDO:0007073 Hypoglossia-hypodactyly syndrome skos:exactMatch SCTID:35031005 semapv:UnspecifiedMatching MONDO:0007074 ainhum skos:exactMatch DOID:11329 ainhum semapv:UnspecifiedMatching MONDO:0007074 ainhum skos:exactMatch ICD10CM:L94.6 Ainhum semapv:UnspecifiedMatching MONDO:0007074 ainhum skos:exactMatch NCIT:C84544 Ainhum semapv:UnspecifiedMatching MONDO:0007074 ainhum skos:exactMatch OMIM:103400 ainhum semapv:UnspecifiedMatching MONDO:0007074 ainhum skos:exactMatch SCTID:38528001 semapv:UnspecifiedMatching MONDO:0007074 ainhum skos:exactMatch UMLS:C0001860 semapv:UnspecifiedMatching MONDO:0007074 ainhum skos:exactMatch mesh:D000387 semapv:UnspecifiedMatching MONDO:0007075 alacrima, congenital, autosomal dominant skos:exactMatch OMIM:103420 alacrima, congenital, autosomal dominant semapv:UnspecifiedMatching MONDO:0007075 alacrima, congenital, autosomal dominant skos:exactMatch mesh:C566307 semapv:UnspecifiedMatching MONDO:0007077 Tietz syndrome skos:exactMatch DOID:0090002 Tietz syndrome semapv:UnspecifiedMatching MONDO:0007077 Tietz syndrome skos:exactMatch OMIM:103500 tietz albinism-deafness syndrome semapv:UnspecifiedMatching MONDO:0007077 Tietz syndrome skos:exactMatch Orphanet:42665 Tietz syndrome semapv:UnspecifiedMatching MONDO:0007077 Tietz syndrome skos:exactMatch SCTID:403805009 semapv:UnspecifiedMatching MONDO:0007077 Tietz syndrome skos:exactMatch UMLS:C0391816 semapv:UnspecifiedMatching MONDO:0007077 Tietz syndrome skos:exactMatch mesh:C536919 semapv:UnspecifiedMatching MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch DOID:0080053 Albright's hereditary osteodystrophy semapv:UnspecifiedMatching MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch NCIT:C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance semapv:UnspecifiedMatching MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch OMIM:103580 pseudohypoparathyroidism, iia 1a semapv:UnspecifiedMatching MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:UnspecifiedMatching MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch SCTID:58833000 semapv:UnspecifiedMatching MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch UMLS:C3494506 semapv:UnspecifiedMatching MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch mesh:C537045 semapv:UnspecifiedMatching MONDO:0007079 alcohol dependence skos:exactMatch DOID:0050741 alcohol dependence semapv:UnspecifiedMatching MONDO:0007079 alcohol dependence skos:exactMatch NCIT:C93040 Alcohol Dependence semapv:UnspecifiedMatching MONDO:0007079 alcohol dependence skos:exactMatch OMIM:103780 alcohol dependence semapv:UnspecifiedMatching MONDO:0007079 alcohol dependence skos:exactMatch SCTID:66590003 semapv:UnspecifiedMatching MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch DOID:14080 glucocorticoid-remediable aldosteronism semapv:UnspecifiedMatching MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch ICD10CM:E26.02 Glucocorticoid-remediable aldosteronism semapv:UnspecifiedMatching MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:UnspecifiedMatching MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch Orphanet:403 Familial hyperaldosteronism type I semapv:UnspecifiedMatching MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch UMLS:C3838731 semapv:UnspecifiedMatching MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch mesh:C563177 semapv:UnspecifiedMatching MONDO:0007082 alopecia areata 1 skos:exactMatch OMIM:104000 alopecia areata 1 semapv:UnspecifiedMatching MONDO:0007082 alopecia areata 1 skos:exactMatch UMLS:C1863094 semapv:UnspecifiedMatching MONDO:0007082 alopecia areata 1 skos:exactMatch mesh:C566303 semapv:UnspecifiedMatching MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:UnspecifiedMatching MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:UnspecifiedMatching MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia semapv:UnspecifiedMatching MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch SCTID:719518004 semapv:UnspecifiedMatching MONDO:0007084 familial focal alopecia skos:exactMatch OMIM:104110 alopecia, familial focal semapv:UnspecifiedMatching MONDO:0007084 familial focal alopecia skos:exactMatch UMLS:C1863092 semapv:UnspecifiedMatching MONDO:0007084 familial focal alopecia skos:exactMatch mesh:C566301 semapv:UnspecifiedMatching MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:exactMatch OMIM:104130 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality semapv:UnspecifiedMatching MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:exactMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:exactMatch SCTID:720980004 semapv:UnspecifiedMatching MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:exactMatch UMLS:C1863090 semapv:UnspecifiedMatching MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:exactMatch mesh:C537057 semapv:UnspecifiedMatching MONDO:0007086 autosomal dominant Alport syndrome skos:exactMatch DOID:0110032 autosomal dominant Alport syndrome semapv:UnspecifiedMatching MONDO:0007086 autosomal dominant Alport syndrome skos:exactMatch OMIM:104200 alport syndrome 3a, autosomal dominant semapv:UnspecifiedMatching MONDO:0007086 autosomal dominant Alport syndrome skos:exactMatch Orphanet:88918 Autosomal dominant Alport syndrome semapv:UnspecifiedMatching MONDO:0007086 autosomal dominant Alport syndrome skos:exactMatch SCTID:717766000 semapv:UnspecifiedMatching MONDO:0007087 alternating hemiplegia of childhood 1 skos:exactMatch OMIM:104290 alternating hemiplegia of childhood 1 semapv:UnspecifiedMatching MONDO:0007087 alternating hemiplegia of childhood 1 skos:exactMatch UMLS:C3549447 semapv:UnspecifiedMatching MONDO:0007088 Alzheimer disease type 1 skos:exactMatch DOID:0080348 Alzheimer's disease 1 semapv:UnspecifiedMatching MONDO:0007088 Alzheimer disease type 1 skos:exactMatch OMIM:104300 alzheimer disease, familial, 1 semapv:UnspecifiedMatching MONDO:0007088 Alzheimer disease type 1 skos:exactMatch UMLS:C1863052 semapv:UnspecifiedMatching MONDO:0007088 Alzheimer disease type 1 skos:exactMatch mesh:C536594 semapv:UnspecifiedMatching MONDO:0007089 Alzheimer disease 2 skos:exactMatch DOID:0110035 Alzheimer's disease 2 semapv:UnspecifiedMatching MONDO:0007089 Alzheimer disease 2 skos:exactMatch OMIM:104310 alzheimer disease 2 semapv:UnspecifiedMatching MONDO:0007089 Alzheimer disease 2 skos:exactMatch UMLS:C1863051 semapv:UnspecifiedMatching MONDO:0007089 Alzheimer disease 2 skos:exactMatch mesh:C536595 semapv:UnspecifiedMatching MONDO:0007090 amastia, bilateral, with ureteral triplication and dysmorphism skos:exactMatch OMIM:104350 amastia, bilateral, with ureteral triplication and dysmorphism semapv:UnspecifiedMatching MONDO:0007090 amastia, bilateral, with ureteral triplication and dysmorphism skos:exactMatch UMLS:C1863015 semapv:UnspecifiedMatching MONDO:0007090 amastia, bilateral, with ureteral triplication and dysmorphism skos:exactMatch mesh:C566295 semapv:UnspecifiedMatching MONDO:0007091 amelia and terminal transverse hemimelia skos:exactMatch OMIM:104400 amelia and terminal transverse hemimelia semapv:UnspecifiedMatching MONDO:0007091 amelia and terminal transverse hemimelia skos:exactMatch UMLS:C1863014 semapv:UnspecifiedMatching MONDO:0007091 amelia and terminal transverse hemimelia skos:exactMatch mesh:C566294 semapv:UnspecifiedMatching MONDO:0007092 amelogenesis imperfecta type 1B skos:exactMatch DOID:0110052 amelogenesis imperfecta type 1B semapv:UnspecifiedMatching MONDO:0007092 amelogenesis imperfecta type 1B skos:exactMatch OMIM:104500 amelogenesis imperfecta, iia 1b semapv:UnspecifiedMatching MONDO:0007092 amelogenesis imperfecta type 1B skos:exactMatch SCTID:234961008 semapv:UnspecifiedMatching MONDO:0007092 amelogenesis imperfecta type 1B skos:exactMatch UMLS:C0399368 semapv:UnspecifiedMatching MONDO:0007092 amelogenesis imperfecta type 1B skos:exactMatch mesh:C562879 semapv:UnspecifiedMatching MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:exactMatch DOID:0110053 amelogenesis imperfecta type 4 semapv:UnspecifiedMatching MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:exactMatch OMIM:104510 amelogenesis imperfecta, iia 4 semapv:UnspecifiedMatching MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:exactMatch Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism semapv:UnspecifiedMatching MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:exactMatch UMLS:C1863012 semapv:UnspecifiedMatching MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:exactMatch mesh:C566293 semapv:UnspecifiedMatching MONDO:0007094 amelogenesis imperfecta type 1A skos:exactMatch DOID:0110054 amelogenesis imperfecta type 1A semapv:UnspecifiedMatching MONDO:0007094 amelogenesis imperfecta type 1A skos:exactMatch OMIM:104530 amelogenesis imperfecta, iia 1a semapv:UnspecifiedMatching MONDO:0007094 amelogenesis imperfecta type 1A skos:exactMatch mesh:C538240 semapv:UnspecifiedMatching MONDO:0007095 ameloonychohypohidrotic syndrome skos:exactMatch OMIM:104570 ameloonychohypohidrotic syndrome semapv:UnspecifiedMatching MONDO:0007095 ameloonychohypohidrotic syndrome skos:exactMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:UnspecifiedMatching MONDO:0007095 ameloonychohypohidrotic syndrome skos:exactMatch SCTID:715404000 semapv:UnspecifiedMatching MONDO:0007095 ameloonychohypohidrotic syndrome skos:exactMatch UMLS:C1863006 semapv:UnspecifiedMatching MONDO:0007095 ameloonychohypohidrotic syndrome skos:exactMatch mesh:C538245 semapv:UnspecifiedMatching MONDO:0007096 amenorrhea-galactorrhea syndrome skos:exactMatch OMIM:104600 amenorrhea-galactorrhea syndrome semapv:UnspecifiedMatching MONDO:0007096 amenorrhea-galactorrhea syndrome skos:exactMatch SCTID:64678009 semapv:UnspecifiedMatching MONDO:0007096 amenorrhea-galactorrhea syndrome skos:exactMatch UMLS:C0271556 semapv:UnspecifiedMatching MONDO:0007096 amenorrhea-galactorrhea syndrome skos:exactMatch mesh:C537072 semapv:UnspecifiedMatching MONDO:0007097 Finnish type amyloidosis skos:exactMatch DOID:0050637 Finnish type amyloidosis semapv:UnspecifiedMatching MONDO:0007097 Finnish type amyloidosis skos:exactMatch OMIM:105120 amyloidosis, finnish iia semapv:UnspecifiedMatching MONDO:0007097 Finnish type amyloidosis skos:exactMatch Orphanet:85448 AGel amyloidosis semapv:UnspecifiedMatching MONDO:0007097 Finnish type amyloidosis skos:exactMatch SCTID:419398009 semapv:UnspecifiedMatching MONDO:0007097 Finnish type amyloidosis skos:exactMatch mesh:C537459 semapv:UnspecifiedMatching MONDO:0007098 ACys amyloidosis skos:exactMatch DOID:0070027 CST3-related cerebral amyloid angiopathy semapv:UnspecifiedMatching MONDO:0007098 ACys amyloidosis skos:exactMatch OMIM:105150 cerebral amyloid angiopathy, cst3-related semapv:UnspecifiedMatching MONDO:0007098 ACys amyloidosis skos:exactMatch Orphanet:100008 ACys amyloidosis semapv:UnspecifiedMatching MONDO:0007098 ACys amyloidosis skos:exactMatch SCTID:703220002 semapv:UnspecifiedMatching MONDO:0007099 familial visceral amyloidosis skos:exactMatch DOID:0050636 familial visceral amyloidosis semapv:UnspecifiedMatching MONDO:0007099 familial visceral amyloidosis skos:exactMatch OMIM:105200 amyloidosis, familial visceral semapv:UnspecifiedMatching MONDO:0007099 familial visceral amyloidosis skos:exactMatch Orphanet:85450 Hereditary amyloidosis with primary renal involvement semapv:UnspecifiedMatching MONDO:0007099 familial visceral amyloidosis skos:exactMatch SCTID:66451004 semapv:UnspecifiedMatching MONDO:0007099 familial visceral amyloidosis skos:exactMatch UMLS:C0268389 semapv:UnspecifiedMatching MONDO:0007099 familial visceral amyloidosis skos:exactMatch mesh:C538249 semapv:UnspecifiedMatching MONDO:0007100 familial amyloid neuropathy skos:exactMatch DOID:0050638 transthyretin amyloidosis semapv:UnspecifiedMatching MONDO:0007100 familial amyloid neuropathy skos:exactMatch NCIT:C84554 Familial Amyloid Neuropathy semapv:UnspecifiedMatching MONDO:0007100 familial amyloid neuropathy skos:exactMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:UnspecifiedMatching MONDO:0007100 familial amyloid neuropathy skos:exactMatch Orphanet:85447 ATTRV30M amyloidosis semapv:UnspecifiedMatching MONDO:0007100 familial amyloid neuropathy skos:exactMatch SCTID:42295001 semapv:UnspecifiedMatching MONDO:0007100 familial amyloid neuropathy skos:exactMatch UMLS:C2751492 semapv:UnspecifiedMatching MONDO:0007100 familial amyloid neuropathy skos:exactMatch mesh:C567782 semapv:UnspecifiedMatching MONDO:0007101 familial primary localized cutaneous amyloidosis skos:exactMatch OMIMPS:105250 semapv:UnspecifiedMatching MONDO:0007101 familial primary localized cutaneous amyloidosis skos:exactMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:UnspecifiedMatching MONDO:0007101 familial primary localized cutaneous amyloidosis skos:exactMatch UMLS:CN204529 semapv:UnspecifiedMatching MONDO:0007101 familial primary localized cutaneous amyloidosis skos:exactMatch mesh:C562643 semapv:UnspecifiedMatching MONDO:0007102 amyotrophic dystonic paraplegia skos:exactMatch OMIM:105300 amyotrophic dystonic paraplegia semapv:UnspecifiedMatching MONDO:0007102 amyotrophic dystonic paraplegia skos:exactMatch UMLS:C1862956 semapv:UnspecifiedMatching MONDO:0007102 amyotrophic dystonic paraplegia skos:exactMatch mesh:C566292 semapv:UnspecifiedMatching MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch DOID:0060193 amyotrophic lateral sclerosis type 1 semapv:UnspecifiedMatching MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:UnspecifiedMatching MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch mesh:C531617 semapv:UnspecifiedMatching MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:UnspecifiedMatching MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:UnspecifiedMatching MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch Orphanet:90020 Parkinson-dementia complex of Guam semapv:UnspecifiedMatching MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 semapv:UnspecifiedMatching MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch NCIT:C168756 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 semapv:UnspecifiedMatching MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 semapv:UnspecifiedMatching MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch UMLS:C3888102 semapv:UnspecifiedMatching MONDO:0007106 anal sphincter dysplasia skos:exactMatch OMIM:105563 anal sphincter dysplasia semapv:UnspecifiedMatching MONDO:0007106 anal sphincter dysplasia skos:exactMatch UMLS:C1862936 semapv:UnspecifiedMatching MONDO:0007106 anal sphincter dysplasia skos:exactMatch mesh:C538254 semapv:UnspecifiedMatching MONDO:0007107 anal sphincter myopathy, internal skos:exactMatch OMIM:105565 anal sphincter myopathy, internal semapv:UnspecifiedMatching MONDO:0007107 anal sphincter myopathy, internal skos:exactMatch UMLS:C1862935 semapv:UnspecifiedMatching MONDO:0007107 anal sphincter myopathy, internal skos:exactMatch mesh:C566287 semapv:UnspecifiedMatching MONDO:0007108 anal canal carcinoma skos:exactMatch DOID:6126 anal canal carcinoma semapv:UnspecifiedMatching MONDO:0007108 anal canal carcinoma skos:exactMatch NCIT:C7489 Anal Canal Carcinoma semapv:UnspecifiedMatching MONDO:0007108 anal canal carcinoma skos:exactMatch OMIM:105580 anal canal carcinoma semapv:UnspecifiedMatching MONDO:0007108 anal canal carcinoma skos:exactMatch Orphanet:424013 Carcinoma of the anal canal semapv:UnspecifiedMatching MONDO:0007108 anal canal carcinoma skos:exactMatch SCTID:285310000 semapv:UnspecifiedMatching MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch DOID:0111399 congenital dyserythropoietic anemia type III semapv:UnspecifiedMatching MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch OMIM:105600 anemia, congenital dyserythropoietic, iia iiia semapv:UnspecifiedMatching MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:UnspecifiedMatching MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch SCTID:26409005 semapv:UnspecifiedMatching MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch UMLS:C5676874 semapv:UnspecifiedMatching MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch DOID:0111895 Diamond-Blackfan anemia 1 semapv:UnspecifiedMatching MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch NCIT:C176911 Diamond-Blackfan Anemia 1 semapv:UnspecifiedMatching MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch OMIM:105650 diamond-blackfan anemia 1 semapv:UnspecifiedMatching MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch UMLS:C2676137 semapv:UnspecifiedMatching MONDO:0007110 Diamond-Blackfan anemia 1 skos:exactMatch mesh:C567302 semapv:UnspecifiedMatching MONDO:0007111 aneurysm, intracranial berry type 1 skos:exactMatch DOID:0080964 intracranial berry aneurysm 1 semapv:UnspecifiedMatching MONDO:0007111 aneurysm, intracranial berry type 1 skos:exactMatch OMIM:105800 aneurysm, intracranial berry, 1 semapv:UnspecifiedMatching MONDO:0007111 aneurysm, intracranial berry type 1 skos:exactMatch UMLS:C1862932 semapv:UnspecifiedMatching MONDO:0007111 aneurysm, intracranial berry type 1 skos:exactMatch mesh:C566284 semapv:UnspecifiedMatching MONDO:0007112 interventricular septum aneurysm skos:exactMatch OMIM:105805 aneurysm of interventricular septum semapv:UnspecifiedMatching MONDO:0007112 interventricular septum aneurysm skos:exactMatch Orphanet:99092 Interventricular septum aneurysm semapv:UnspecifiedMatching MONDO:0007112 interventricular septum aneurysm skos:exactMatch UMLS:C1387721 semapv:UnspecifiedMatching MONDO:0007112 interventricular septum aneurysm skos:exactMatch mesh:C563239 semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch DOID:1932 Angelman syndrome semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch ICD10CM:Q93.51 Angelman syndrome semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch NCIT:C75462 Angelman Syndrome semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch OMIM:105830 angelman syndrome semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch Orphanet:72 Angelman syndrome semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch SCTID:76880004 semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch UMLS:C0162635 semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch mesh:C531619 semapv:UnspecifiedMatching MONDO:0007113 Angelman syndrome skos:exactMatch mesh:D017204 semapv:UnspecifiedMatching MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:exactMatch OMIM:105835 angel-shaped phalangoepiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:exactMatch Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:exactMatch SCTID:720984008 semapv:UnspecifiedMatching MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:exactMatch mesh:C536361 semapv:UnspecifiedMatching MONDO:0007115 angioma serpiginosum, autosomal dominant skos:exactMatch OMIM:106050 angioma serpiginosum, autosomal dominant semapv:UnspecifiedMatching MONDO:0007115 angioma serpiginosum, autosomal dominant skos:exactMatch UMLS:C1970130 semapv:UnspecifiedMatching MONDO:0007115 angioma serpiginosum, autosomal dominant skos:exactMatch mesh:C536365 semapv:UnspecifiedMatching MONDO:0007116 hereditary neurocutaneous angioma skos:exactMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:UnspecifiedMatching MONDO:0007116 hereditary neurocutaneous angioma skos:exactMatch Orphanet:1062 Hereditary neurocutaneous malformation semapv:UnspecifiedMatching MONDO:0007118 isolated anhidrosis with normal sweat glands skos:exactMatch DOID:0060603 isolated anhidrosis with normal sweat glands semapv:UnspecifiedMatching MONDO:0007118 isolated anhidrosis with normal sweat glands skos:exactMatch OMIM:106190 anhidrosis, isolated, with normal sweat glands semapv:UnspecifiedMatching MONDO:0007118 isolated anhidrosis with normal sweat glands skos:exactMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:UnspecifiedMatching MONDO:0007118 isolated anhidrosis with normal sweat glands skos:exactMatch UMLS:C5568836 semapv:UnspecifiedMatching MONDO:0007119 isolated aniridia skos:exactMatch OMIMPS:106210 semapv:UnspecifiedMatching MONDO:0007119 isolated aniridia skos:exactMatch Orphanet:250923 Isolated aniridia semapv:UnspecifiedMatching MONDO:0007120 aniridia-absent patella syndrome skos:exactMatch OMIM:106220 aniridia and absent patella semapv:UnspecifiedMatching MONDO:0007120 aniridia-absent patella syndrome skos:exactMatch Orphanet:1069 Aniridia-absent patella syndrome semapv:UnspecifiedMatching MONDO:0007120 aniridia-absent patella syndrome skos:exactMatch UMLS:C1862868 semapv:UnspecifiedMatching MONDO:0007120 aniridia-absent patella syndrome skos:exactMatch mesh:C566281 semapv:UnspecifiedMatching MONDO:0007121 aniridia, microcornea, and spontaneously Reabsorbed cataract skos:exactMatch OMIM:106230 aniridia, microcornea, and spontaneously reabsorbed cataract semapv:UnspecifiedMatching MONDO:0007121 aniridia, microcornea, and spontaneously Reabsorbed cataract skos:exactMatch UMLS:C1862867 semapv:UnspecifiedMatching MONDO:0007121 aniridia, microcornea, and spontaneously Reabsorbed cataract skos:exactMatch mesh:C566280 semapv:UnspecifiedMatching MONDO:0007122 anisocoria skos:exactMatch OMIM:106240 anisocoria semapv:UnspecifiedMatching MONDO:0007122 anisocoria skos:exactMatch SCTID:13045009 semapv:UnspecifiedMatching MONDO:0007122 anisocoria skos:exactMatch mesh:D015875 semapv:UnspecifiedMatching MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:exactMatch OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate semapv:UnspecifiedMatching MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:exactMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:UnspecifiedMatching MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:exactMatch SCTID:400952003 semapv:UnspecifiedMatching MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:exactMatch UMLS:C1862866 semapv:UnspecifiedMatching MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:exactMatch mesh:C536373 semapv:UnspecifiedMatching MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:exactMatch DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:UnspecifiedMatching MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:exactMatch OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate semapv:UnspecifiedMatching MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:exactMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:UnspecifiedMatching MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:exactMatch SCTID:55821006 semapv:UnspecifiedMatching MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:exactMatch mesh:C535847 semapv:UnspecifiedMatching MONDO:0007125 ankyloglossia skos:exactMatch DOID:0060604 ankyloglossia semapv:UnspecifiedMatching MONDO:0007125 ankyloglossia skos:exactMatch ICD10CM:Q38.1 Ankyloglossia semapv:UnspecifiedMatching MONDO:0007125 ankyloglossia skos:exactMatch NCIT:C124538 Ankyloglossia semapv:UnspecifiedMatching MONDO:0007125 ankyloglossia skos:exactMatch OMIM:106280 ankyloglossia with or without tooth anomalies semapv:UnspecifiedMatching MONDO:0007125 ankyloglossia skos:exactMatch SCTID:67787004 semapv:UnspecifiedMatching MONDO:0007125 ankyloglossia skos:exactMatch mesh:C562396 semapv:UnspecifiedMatching MONDO:0007125 ankyloglossia skos:exactMatch mesh:D000072676 semapv:UnspecifiedMatching MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:exactMatch DOID:0080603 ankylosing spondylitis 1 semapv:UnspecifiedMatching MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:exactMatch OMIM:106300 spondyloarthropathy, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch DOID:6652 diffuse idiopathic skeletal hyperostosis semapv:UnspecifiedMatching MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch NCIT:C84671 Diffuse Idiopathic Skeletal Hyperostosis semapv:UnspecifiedMatching MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis semapv:UnspecifiedMatching MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch SCTID:31487001 semapv:UnspecifiedMatching MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch UMLS:C0020498 semapv:UnspecifiedMatching MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch mesh:D004057 semapv:UnspecifiedMatching MONDO:0007128 annular erythema skos:exactMatch OMIM:106500 annular erythema semapv:UnspecifiedMatching MONDO:0007128 annular erythema skos:exactMatch SCTID:200920000 semapv:UnspecifiedMatching MONDO:0007128 annular erythema skos:exactMatch UMLS:C0234906 semapv:UnspecifiedMatching MONDO:0007128 annular erythema skos:exactMatch mesh:C562461 semapv:UnspecifiedMatching MONDO:0007129 tooth agenesis, selective, 1 skos:exactMatch OMIM:106600 tooth agenesis, selective, 1 semapv:UnspecifiedMatching MONDO:0007130 congenital total pulmonary venous return anomaly skos:exactMatch DOID:4297 scimitar syndrome semapv:UnspecifiedMatching MONDO:0007130 congenital total pulmonary venous return anomaly skos:exactMatch NCIT:C98585 Total Anomalous Pulmonary Venous Return semapv:UnspecifiedMatching MONDO:0007130 congenital total pulmonary venous return anomaly skos:exactMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:UnspecifiedMatching MONDO:0007130 congenital total pulmonary venous return anomaly skos:exactMatch Orphanet:99125 Congenital total pulmonary venous return anomaly semapv:UnspecifiedMatching MONDO:0007130 congenital total pulmonary venous return anomaly skos:exactMatch SCTID:111323005 semapv:UnspecifiedMatching MONDO:0007131 anonychia with flexural pigmentation skos:exactMatch OMIM:106750 anonychia with flexural pigmentation semapv:UnspecifiedMatching MONDO:0007131 anonychia with flexural pigmentation skos:exactMatch Orphanet:69125 Anonychia with flexural pigmentation semapv:UnspecifiedMatching MONDO:0007131 anonychia with flexural pigmentation skos:exactMatch UMLS:C1862844 semapv:UnspecifiedMatching MONDO:0007131 anonychia with flexural pigmentation skos:exactMatch mesh:C566278 semapv:UnspecifiedMatching MONDO:0007132 anonychia-ectrodactyly skos:exactMatch OMIM:106900 anonychia-ectrodactyly semapv:UnspecifiedMatching MONDO:0007132 anonychia-ectrodactyly skos:exactMatch UMLS:C1862843 semapv:UnspecifiedMatching MONDO:0007132 anonychia-ectrodactyly skos:exactMatch mesh:C566277 semapv:UnspecifiedMatching MONDO:0007133 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly skos:exactMatch OMIM:106990 anonychia-onychodystrophy with brachydactyly iia B and ectrodactyly semapv:UnspecifiedMatching MONDO:0007133 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly skos:exactMatch UMLS:C1862842 semapv:UnspecifiedMatching MONDO:0007133 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly skos:exactMatch mesh:C536379 semapv:UnspecifiedMatching MONDO:0007134 Cooks syndrome skos:exactMatch OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges semapv:UnspecifiedMatching MONDO:0007134 Cooks syndrome skos:exactMatch Orphanet:1487 Cooks syndrome semapv:UnspecifiedMatching MONDO:0007134 Cooks syndrome skos:exactMatch SCTID:720747002 semapv:UnspecifiedMatching MONDO:0007134 Cooks syndrome skos:exactMatch UMLS:C1862841 semapv:UnspecifiedMatching MONDO:0007134 Cooks syndrome skos:exactMatch mesh:C537766 semapv:UnspecifiedMatching MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:exactMatch DOID:0080084 nonsyndromic congenital nail disorder 6 semapv:UnspecifiedMatching MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:exactMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:UnspecifiedMatching MONDO:0007136 hereditary anorectal anomalies skos:exactMatch OMIM:107100 anorectal anomalies semapv:UnspecifiedMatching MONDO:0007137 isolated congenital anosmia skos:exactMatch OMIM:107200 anosmia, isolated congenital semapv:UnspecifiedMatching MONDO:0007137 isolated congenital anosmia skos:exactMatch Orphanet:88620 Isolated congenital anosmia semapv:UnspecifiedMatching MONDO:0007137 isolated congenital anosmia skos:exactMatch SCTID:230502003 semapv:UnspecifiedMatching MONDO:0007137 isolated congenital anosmia skos:exactMatch mesh:C535983 semapv:UnspecifiedMatching MONDO:0007138 anterior segment dysgenesis 1 skos:exactMatch DOID:0080606 anterior segment dysgenesis 1 semapv:UnspecifiedMatching MONDO:0007138 anterior segment dysgenesis 1 skos:exactMatch OMIM:107250 anterior segment dysgenesis 1 semapv:UnspecifiedMatching MONDO:0007138 anterior segment dysgenesis 1 skos:exactMatch UMLS:C4551992 semapv:UnspecifiedMatching MONDO:0007139 obsolete Antipyrine metabolism skos:exactMatch OMIM:107290 antipyrine metabolism semapv:UnspecifiedMatching MONDO:0007139 obsolete Antipyrine metabolism skos:exactMatch UMLS:C1862824 semapv:UnspecifiedMatching MONDO:0007141 obsolete antiviral state repressor, regulator of skos:exactMatch OMIM:107440 antiviral state repressor, regulator of semapv:UnspecifiedMatching MONDO:0007142 Townes-Brocks syndrome skos:exactMatch DOID:0050887 Townes-Brocks syndrome semapv:UnspecifiedMatching MONDO:0007142 Townes-Brocks syndrome skos:exactMatch NCIT:C99085 Townes-Brocks Syndrome semapv:UnspecifiedMatching MONDO:0007142 Townes-Brocks syndrome skos:exactMatch OMIMPS:107480 semapv:UnspecifiedMatching MONDO:0007142 Townes-Brocks syndrome skos:exactMatch Orphanet:857 Townes-Brocks syndrome semapv:UnspecifiedMatching MONDO:0007142 Townes-Brocks syndrome skos:exactMatch SCTID:24750000 semapv:UnspecifiedMatching MONDO:0007142 Townes-Brocks syndrome skos:exactMatch UMLS:C0265246 semapv:UnspecifiedMatching MONDO:0007142 Townes-Brocks syndrome skos:exactMatch mesh:C536974 semapv:UnspecifiedMatching MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:exactMatch OMIM:107500 aortic arch anomaly with peculiar facies and mental retardation semapv:UnspecifiedMatching MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:exactMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:exactMatch UMLS:C1862682 semapv:UnspecifiedMatching MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:exactMatch mesh:C537785 semapv:UnspecifiedMatching MONDO:0007144 aortic arch interruption, facial palsy, and retinal coloboma skos:exactMatch OMIM:107550 aortic arch interruption, facial palsy, and retinal coloboma semapv:UnspecifiedMatching MONDO:0007144 aortic arch interruption, facial palsy, and retinal coloboma skos:exactMatch UMLS:C1862681 semapv:UnspecifiedMatching MONDO:0007144 aortic arch interruption, facial palsy, and retinal coloboma skos:exactMatch mesh:C566271 semapv:UnspecifiedMatching MONDO:0007145 aplasia cutis congenita skos:exactMatch DOID:0080661 nonsyndromic aplasia cutis congenita semapv:UnspecifiedMatching MONDO:0007145 aplasia cutis congenita skos:exactMatch NCIT:C98822 Aplasia Cutis Congenita semapv:UnspecifiedMatching MONDO:0007145 aplasia cutis congenita skos:exactMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:UnspecifiedMatching MONDO:0007145 aplasia cutis congenita skos:exactMatch Orphanet:1114 Aplasia cutis congenita semapv:UnspecifiedMatching MONDO:0007145 aplasia cutis congenita skos:exactMatch SCTID:35484002 semapv:UnspecifiedMatching MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch DOID:0050848 obstructive sleep apnea semapv:UnspecifiedMatching MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch ICD10CM:G47.33 Obstructive sleep apnea (adult) (pediatric) semapv:UnspecifiedMatching MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch NCIT:C27168 Obstructive Sleep Apnea Syndrome semapv:UnspecifiedMatching MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch OMIM:107650 apnea, obstructive sleep semapv:UnspecifiedMatching MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch SCTID:78275009 semapv:UnspecifiedMatching MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch UMLS:C0520679 semapv:UnspecifiedMatching MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch mesh:D020181 semapv:UnspecifiedMatching MONDO:0007148 appendicitis, proneness to skos:exactMatch OMIM:107700 appendicitis, proneness to semapv:UnspecifiedMatching MONDO:0007149 obsolete arbitrary restriction polymorphism 1 skos:exactMatch OMIM:107750 arbitrary restriction polymorphism 1 semapv:UnspecifiedMatching MONDO:0007149 obsolete arbitrary restriction polymorphism 1 skos:exactMatch UMLS:C1862555 semapv:UnspecifiedMatching MONDO:0007150 arcus senilis skos:exactMatch DOID:11342 arcus senilis semapv:UnspecifiedMatching MONDO:0007150 arcus senilis skos:exactMatch OMIM:107800 arcus corneae semapv:UnspecifiedMatching MONDO:0007150 arcus senilis skos:exactMatch SCTID:231924000 semapv:UnspecifiedMatching MONDO:0007150 arcus senilis skos:exactMatch UMLS:C0003742 semapv:UnspecifiedMatching MONDO:0007150 arcus senilis skos:exactMatch mesh:D001112 semapv:UnspecifiedMatching MONDO:0007151 arms, malformation of skos:exactMatch OMIM:107900 arms, malformation of semapv:UnspecifiedMatching MONDO:0007151 arms, malformation of skos:exactMatch mesh:C566258 semapv:UnspecifiedMatching MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:exactMatch DOID:0110070 arrhythmogenic right ventricular dysplasia 1 semapv:UnspecifiedMatching MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:exactMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:UnspecifiedMatching MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:exactMatch UMLS:C1862511 semapv:UnspecifiedMatching MONDO:0007153 arteries, anomalies of skos:exactMatch OMIM:108000 arteries, anomalies of semapv:UnspecifiedMatching MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch DOID:0060688 arteriovenous malformations of the brain semapv:UnspecifiedMatching MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch NCIT:C2936 Cerebral Arteriovenous Malformation/Hemangioma semapv:UnspecifiedMatching MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch OMIM:108010 arteriovenous malformations of the brain semapv:UnspecifiedMatching MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:UnspecifiedMatching MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch SCTID:234142008 semapv:UnspecifiedMatching MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch UMLS:C0917804 semapv:UnspecifiedMatching MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch mesh:D002538 semapv:UnspecifiedMatching MONDO:0007155 arteritis, familial granulomatous, with juvenile polyarthritis skos:exactMatch OMIM:108050 arteritis, familial granulomatous, with juvenile polyarthritis semapv:UnspecifiedMatching MONDO:0007155 arteritis, familial granulomatous, with juvenile polyarthritis skos:exactMatch UMLS:C1862510 semapv:UnspecifiedMatching MONDO:0007155 arteritis, familial granulomatous, with juvenile polyarthritis skos:exactMatch mesh:C566253 semapv:UnspecifiedMatching MONDO:0007156 arthritis, sacroiliac skos:exactMatch OMIM:108100 arthritis, sacroiliac semapv:UnspecifiedMatching MONDO:0007156 arthritis, sacroiliac skos:exactMatch UMLS:C0748473 semapv:UnspecifiedMatching MONDO:0007156 arthritis, sacroiliac skos:exactMatch mesh:C563037 semapv:UnspecifiedMatching MONDO:0007157 arthrogryposis, distal, type 1A skos:exactMatch DOID:0111597 distal arthrogryposis type 1A semapv:UnspecifiedMatching MONDO:0007157 arthrogryposis, distal, type 1A skos:exactMatch OMIM:108120 arthrogryposis, distal, iia 1a semapv:UnspecifiedMatching MONDO:0007157 arthrogryposis, distal, type 1A skos:exactMatch SCTID:715314008 semapv:UnspecifiedMatching MONDO:0007157 arthrogryposis, distal, type 1A skos:exactMatch UMLS:C0220662 semapv:UnspecifiedMatching MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch DOID:0111608 distal arthrogryposis type 5 semapv:UnspecifiedMatching MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch OMIM:108145 arthrogryposis, distal, iia 5 semapv:UnspecifiedMatching MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:UnspecifiedMatching MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch SCTID:715217004 semapv:UnspecifiedMatching MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch UMLS:C1862472 semapv:UnspecifiedMatching MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch DOID:0111609 distal arthrogryposis type 6 semapv:UnspecifiedMatching MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch OMIM:108200 arthrogryposis, distal, iia 6 semapv:UnspecifiedMatching MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:UnspecifiedMatching MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch SCTID:720515009 semapv:UnspecifiedMatching MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch UMLS:C1862471 semapv:UnspecifiedMatching MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch mesh:C535386 semapv:UnspecifiedMatching MONDO:0007160 Stickler syndrome type 1 skos:exactMatch DOID:0080676 Stickler syndrome 1 semapv:UnspecifiedMatching MONDO:0007160 Stickler syndrome type 1 skos:exactMatch NCIT:C168733 Stickler Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0007160 Stickler syndrome type 1 skos:exactMatch OMIM:108300 stickler syndrome, iia 1 semapv:UnspecifiedMatching MONDO:0007160 Stickler syndrome type 1 skos:exactMatch Orphanet:90653 Stickler syndrome type 1 semapv:UnspecifiedMatching MONDO:0007160 Stickler syndrome type 1 skos:exactMatch mesh:C537492 semapv:UnspecifiedMatching MONDO:0007161 spermatogenic failure 2 skos:exactMatch DOID:0070164 spermatogenic failure 2 semapv:UnspecifiedMatching MONDO:0007161 spermatogenic failure 2 skos:exactMatch OMIM:108420 spermatogenic failure 2 semapv:UnspecifiedMatching MONDO:0007162 asymmetric short stature syndrome skos:exactMatch OMIM:108450 asymmetric short stature syndrome semapv:UnspecifiedMatching MONDO:0007162 asymmetric short stature syndrome skos:exactMatch UMLS:C1862458 semapv:UnspecifiedMatching MONDO:0007162 asymmetric short stature syndrome skos:exactMatch mesh:C566248 semapv:UnspecifiedMatching MONDO:0007163 episodic ataxia type 2 skos:exactMatch DOID:0050990 episodic ataxia type 2 semapv:UnspecifiedMatching MONDO:0007163 episodic ataxia type 2 skos:exactMatch OMIM:108500 episodic ataxia, iia 2 semapv:UnspecifiedMatching MONDO:0007163 episodic ataxia type 2 skos:exactMatch Orphanet:97 Familial paroxysmal ataxia semapv:UnspecifiedMatching MONDO:0007163 episodic ataxia type 2 skos:exactMatch SCTID:420932006 semapv:UnspecifiedMatching MONDO:0007163 episodic ataxia type 2 skos:exactMatch UMLS:C1720416 semapv:UnspecifiedMatching MONDO:0007163 episodic ataxia type 2 skos:exactMatch mesh:C535506 semapv:UnspecifiedMatching MONDO:0007164 spastic ataxia 1 skos:exactMatch DOID:0050772 spastic ataxia 1 semapv:UnspecifiedMatching MONDO:0007164 spastic ataxia 1 skos:exactMatch OMIM:108600 spastic ataxia 1, autosomal dominant semapv:UnspecifiedMatching MONDO:0007164 spastic ataxia 1 skos:exactMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:UnspecifiedMatching MONDO:0007164 spastic ataxia 1 skos:exactMatch UMLS:C1970107 semapv:UnspecifiedMatching MONDO:0007164 spastic ataxia 1 skos:exactMatch mesh:C566993 semapv:UnspecifiedMatching MONDO:0007165 spastic ataxia 7 skos:exactMatch DOID:0050945 spastic ataxia 7 semapv:UnspecifiedMatching MONDO:0007165 spastic ataxia 7 skos:exactMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:UnspecifiedMatching MONDO:0007165 spastic ataxia 7 skos:exactMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:UnspecifiedMatching MONDO:0007165 spastic ataxia 7 skos:exactMatch SCTID:763669001 semapv:UnspecifiedMatching MONDO:0007165 spastic ataxia 7 skos:exactMatch UMLS:C1862441 semapv:UnspecifiedMatching MONDO:0007165 spastic ataxia 7 skos:exactMatch mesh:C566247 semapv:UnspecifiedMatching MONDO:0007166 ataxia with fasciculations skos:exactMatch OMIM:108700 ataxia with fasciculations semapv:UnspecifiedMatching MONDO:0007166 ataxia with fasciculations skos:exactMatch UMLS:C1862440 semapv:UnspecifiedMatching MONDO:0007166 ataxia with fasciculations skos:exactMatch mesh:C566246 semapv:UnspecifiedMatching MONDO:0007167 atelosteogenesis type I skos:exactMatch OMIM:108720 atelosteogenesis, iia 1 semapv:UnspecifiedMatching MONDO:0007167 atelosteogenesis type I skos:exactMatch Orphanet:1190 Atelosteogenesis type I semapv:UnspecifiedMatching MONDO:0007167 atelosteogenesis type I skos:exactMatch SCTID:725141006 semapv:UnspecifiedMatching MONDO:0007167 atelosteogenesis type I skos:exactMatch mesh:C535396 semapv:UnspecifiedMatching MONDO:0007168 atelosteogenesis type III skos:exactMatch OMIM:108721 atelosteogenesis, iia 3 semapv:UnspecifiedMatching MONDO:0007168 atelosteogenesis type III skos:exactMatch Orphanet:56305 Atelosteogenesis type III semapv:UnspecifiedMatching MONDO:0007168 atelosteogenesis type III skos:exactMatch SCTID:725142004 semapv:UnspecifiedMatching MONDO:0007168 atelosteogenesis type III skos:exactMatch mesh:C579928 semapv:UnspecifiedMatching MONDO:0007169 atherosclerosis susceptibility skos:exactMatch OMIM:108725 atherosclerosis susceptibility semapv:UnspecifiedMatching MONDO:0007170 atresia of external auditory canal and conductive deafness skos:exactMatch OMIM:108760 atresia of external auditory canal and conductive deafness semapv:UnspecifiedMatching MONDO:0007170 atresia of external auditory canal and conductive deafness skos:exactMatch UMLS:C3502361 semapv:UnspecifiedMatching MONDO:0007171 atrial standstill 1 skos:exactMatch DOID:0080662 atrial standstill 1 semapv:UnspecifiedMatching MONDO:0007171 atrial standstill 1 skos:exactMatch OMIM:108770 atrial standstill 1 semapv:UnspecifiedMatching MONDO:0007172 atrial septal defect 1 skos:exactMatch DOID:0110106 atrial heart septal defect 1 semapv:UnspecifiedMatching MONDO:0007172 atrial septal defect 1 skos:exactMatch OMIM:108800 atrial septal defect 1 semapv:UnspecifiedMatching MONDO:0007172 atrial septal defect 1 skos:exactMatch UMLS:C1862389 semapv:UnspecifiedMatching MONDO:0007173 atrial septal defect 7 skos:exactMatch DOID:0110112 atrial heart septal defect 7 semapv:UnspecifiedMatching MONDO:0007173 atrial septal defect 7 skos:exactMatch OMIM:108900 atrial septal defect 7 with or without atrioventricular conduction defects semapv:UnspecifiedMatching MONDO:0007173 atrial septal defect 7 skos:exactMatch Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome semapv:UnspecifiedMatching MONDO:0007173 atrial septal defect 7 skos:exactMatch UMLS:C3276096 semapv:UnspecifiedMatching MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch DOID:13087 Lown-Ganong-Levine syndrome semapv:UnspecifiedMatching MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch OMIM:108950 atrial tachyarrhythmia with short pr interval semapv:UnspecifiedMatching MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:UnspecifiedMatching MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch SCTID:55475008 semapv:UnspecifiedMatching MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch UMLS:C1862387 semapv:UnspecifiedMatching MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch mesh:D008151 semapv:UnspecifiedMatching MONDO:0007175 PR interval, variation in skos:exactMatch OMIM:108980 pr interval, variation 1n semapv:UnspecifiedMatching MONDO:0007175 PR interval, variation in skos:exactMatch UMLS:C3152251 semapv:UnspecifiedMatching MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:exactMatch DOID:0111228 Sveinsson chorioretinal atrophy semapv:UnspecifiedMatching MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:exactMatch OMIM:108985 sveinsson chorioretinal atrophy semapv:UnspecifiedMatching MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:exactMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:UnspecifiedMatching MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:exactMatch SCTID:724384008 semapv:UnspecifiedMatching MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:exactMatch UMLS:C1862382 semapv:UnspecifiedMatching MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:exactMatch mesh:C566236 semapv:UnspecifiedMatching MONDO:0007177 auriculoosteodysplasia skos:exactMatch OMIM:109000 auriculoosteodysplasia semapv:UnspecifiedMatching MONDO:0007177 auriculoosteodysplasia skos:exactMatch Orphanet:114 Auriculoosteodysplasia semapv:UnspecifiedMatching MONDO:0007177 auriculoosteodysplasia skos:exactMatch UMLS:C1862381 semapv:UnspecifiedMatching MONDO:0007177 auriculoosteodysplasia skos:exactMatch mesh:C538271 semapv:UnspecifiedMatching MONDO:0007178 aurocephalosyndactyly skos:exactMatch OMIM:109050 aurocephalosyndactyly semapv:UnspecifiedMatching MONDO:0007178 aurocephalosyndactyly skos:exactMatch UMLS:C1862380 semapv:UnspecifiedMatching MONDO:0007178 aurocephalosyndactyly skos:exactMatch mesh:C566235 semapv:UnspecifiedMatching MONDO:0007179 autoimmune disease skos:exactMatch DOID:417 autoimmune disease semapv:UnspecifiedMatching MONDO:0007179 autoimmune disease skos:exactMatch NCIT:C2889 Autoimmune Disease semapv:UnspecifiedMatching MONDO:0007179 autoimmune disease skos:exactMatch OMIM:109100 autoimmune disease semapv:UnspecifiedMatching MONDO:0007179 autoimmune disease skos:exactMatch SCTID:85828009 semapv:UnspecifiedMatching MONDO:0007179 autoimmune disease skos:exactMatch UMLS:C0004364 semapv:UnspecifiedMatching MONDO:0007179 autoimmune disease skos:exactMatch mesh:D001327 semapv:UnspecifiedMatching MONDO:0007180 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities skos:exactMatch OMIM:109120 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities semapv:UnspecifiedMatching MONDO:0007180 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities skos:exactMatch UMLS:C1862373 semapv:UnspecifiedMatching MONDO:0007180 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities skos:exactMatch mesh:C566234 semapv:UnspecifiedMatching MONDO:0007181 axial osteomalacia skos:exactMatch DOID:0080039 axial osteomalacia semapv:UnspecifiedMatching MONDO:0007181 axial osteomalacia skos:exactMatch OMIM:109130 axial osteomalacia semapv:UnspecifiedMatching MONDO:0007181 axial osteomalacia skos:exactMatch UMLS:C1862372 semapv:UnspecifiedMatching MONDO:0007181 axial osteomalacia skos:exactMatch mesh:C537791 semapv:UnspecifiedMatching MONDO:0007182 Machado-Joseph disease skos:exactMatch DOID:1440 Machado-Joseph disease semapv:UnspecifiedMatching MONDO:0007182 Machado-Joseph disease skos:exactMatch NCIT:C84830 Spinocerebellar Ataxia Type 3 semapv:UnspecifiedMatching MONDO:0007182 Machado-Joseph disease skos:exactMatch OMIM:109150 machado-joseph disease semapv:UnspecifiedMatching MONDO:0007182 Machado-Joseph disease skos:exactMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:UnspecifiedMatching MONDO:0007182 Machado-Joseph disease skos:exactMatch SCTID:91952008 semapv:UnspecifiedMatching MONDO:0007182 Machado-Joseph disease skos:exactMatch UMLS:C0024408 semapv:UnspecifiedMatching MONDO:0007182 Machado-Joseph disease skos:exactMatch mesh:D017827 semapv:UnspecifiedMatching MONDO:0007183 azotemia, familial skos:exactMatch OMIM:109160 azotemia, familial semapv:UnspecifiedMatching MONDO:0007183 azotemia, familial skos:exactMatch UMLS:C1862358 semapv:UnspecifiedMatching MONDO:0007183 azotemia, familial skos:exactMatch mesh:C566233 semapv:UnspecifiedMatching MONDO:0007184 alopecia, androgenetic, 1 skos:exactMatch OMIM:109200 alopecia, androgenetic, 1 semapv:UnspecifiedMatching MONDO:0007185 Banki syndrome skos:exactMatch OMIM:109300 banki syndrome semapv:UnspecifiedMatching MONDO:0007185 Banki syndrome skos:exactMatch Orphanet:1228 Banki syndrome semapv:UnspecifiedMatching MONDO:0007185 Banki syndrome skos:exactMatch SCTID:733093004 semapv:UnspecifiedMatching MONDO:0007185 Banki syndrome skos:exactMatch UMLS:C1862319 semapv:UnspecifiedMatching MONDO:0007185 Banki syndrome skos:exactMatch mesh:C566228 semapv:UnspecifiedMatching MONDO:0007186 gastroesophageal reflux disease skos:exactMatch DOID:8534 gastroesophageal reflux disease semapv:UnspecifiedMatching MONDO:0007186 gastroesophageal reflux disease skos:exactMatch NCIT:C26781 Gastroesophageal Reflux Disease semapv:UnspecifiedMatching MONDO:0007186 gastroesophageal reflux disease skos:exactMatch OMIM:109350 gastroesophageal reflux semapv:UnspecifiedMatching MONDO:0007186 gastroesophageal reflux disease skos:exactMatch SCTID:235595009 semapv:UnspecifiedMatching MONDO:0007186 gastroesophageal reflux disease skos:exactMatch UMLS:C0017168 semapv:UnspecifiedMatching MONDO:0007186 gastroesophageal reflux disease skos:exactMatch mesh:D005764 semapv:UnspecifiedMatching MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch DOID:0070365 nevoid basal cell carcinoma syndrome 1 semapv:UnspecifiedMatching MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch DOID:2512 nevoid basal cell carcinoma syndrome semapv:UnspecifiedMatching MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch NCIT:C2892 Nevoid Basal Cell Carcinoma Syndrome semapv:UnspecifiedMatching MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch OMIMPS:109400 semapv:UnspecifiedMatching MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch Orphanet:377 Gorlin syndrome semapv:UnspecifiedMatching MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch SCTID:69408002 semapv:UnspecifiedMatching MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch UMLS:C0004779 semapv:UnspecifiedMatching MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch mesh:D001478 semapv:UnspecifiedMatching MONDO:0007188 primary basilar invagination skos:exactMatch OMIM:109500 basilar impression, primary semapv:UnspecifiedMatching MONDO:0007188 primary basilar invagination skos:exactMatch Orphanet:2285 Primary basilar invagination semapv:UnspecifiedMatching MONDO:0007188 primary basilar invagination skos:exactMatch UMLS:C1862299 semapv:UnspecifiedMatching MONDO:0007188 primary basilar invagination skos:exactMatch mesh:C566226 semapv:UnspecifiedMatching MONDO:0007189 obsolete B-cell growth factor skos:exactMatch OMIM:109540 b-cell growth factor semapv:UnspecifiedMatching MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:exactMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0007191 Behcet disease skos:exactMatch DOID:13241 Behcet's disease semapv:UnspecifiedMatching MONDO:0007191 Behcet disease skos:exactMatch NCIT:C34416 Behcet Syndrome semapv:UnspecifiedMatching MONDO:0007191 Behcet disease skos:exactMatch OMIM:109650 Behcet syndrome semapv:UnspecifiedMatching MONDO:0007191 Behcet disease skos:exactMatch Orphanet:117 Behçet disease semapv:UnspecifiedMatching MONDO:0007191 Behcet disease skos:exactMatch SCTID:310701003 semapv:UnspecifiedMatching MONDO:0007191 Behcet disease skos:exactMatch UMLS:C0004943 semapv:UnspecifiedMatching MONDO:0007191 Behcet disease skos:exactMatch mesh:D001528 semapv:UnspecifiedMatching MONDO:0007192 beta-amino acids, renal transport of skos:exactMatch OMIM:109660 beta-amino acids, renal transport of semapv:UnspecifiedMatching MONDO:0007192 beta-amino acids, renal transport of skos:exactMatch UMLS:C1862289 semapv:UnspecifiedMatching MONDO:0007193 primary biliary cholangitis 1 skos:exactMatch DOID:0070358 primary biliary cholangitis 1 semapv:UnspecifiedMatching MONDO:0007193 primary biliary cholangitis 1 skos:exactMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:UnspecifiedMatching MONDO:0007193 primary biliary cholangitis 1 skos:exactMatch UMLS:C4551595 semapv:UnspecifiedMatching MONDO:0007194 familial bicuspid aortic valve skos:exactMatch DOID:0080332 bicuspid aortic valve disease semapv:UnspecifiedMatching MONDO:0007194 familial bicuspid aortic valve skos:exactMatch OMIMPS:109730 semapv:UnspecifiedMatching MONDO:0007194 familial bicuspid aortic valve skos:exactMatch Orphanet:402075 Familial bicuspid aortic valve semapv:UnspecifiedMatching MONDO:0007195 bifid nose, autosomal dominant skos:exactMatch OMIM:109740 bifid nose, autosomal dominant semapv:UnspecifiedMatching MONDO:0007195 bifid nose, autosomal dominant skos:exactMatch UMLS:C2751431 semapv:UnspecifiedMatching MONDO:0007197 bladder diverticulum skos:exactMatch DOID:11353 bladder diverticulum semapv:UnspecifiedMatching MONDO:0007197 bladder diverticulum skos:exactMatch ICD10CM:N32.3 Diverticulum of bladder semapv:UnspecifiedMatching MONDO:0007197 bladder diverticulum skos:exactMatch NCIT:C160155 Bladder Diverticulum semapv:UnspecifiedMatching MONDO:0007197 bladder diverticulum skos:exactMatch OMIM:109820 bladder diverticulum semapv:UnspecifiedMatching MONDO:0007197 bladder diverticulum skos:exactMatch SCTID:197866008 semapv:UnspecifiedMatching MONDO:0007197 bladder diverticulum skos:exactMatch mesh:C562406 semapv:UnspecifiedMatching MONDO:0007198 Ascher syndrome skos:exactMatch OMIM:109900 blepharochalasis and double 51p semapv:UnspecifiedMatching MONDO:0007198 Ascher syndrome skos:exactMatch Orphanet:1253 Ascher syndrome semapv:UnspecifiedMatching MONDO:0007198 Ascher syndrome skos:exactMatch SCTID:28599006 semapv:UnspecifiedMatching MONDO:0007198 Ascher syndrome skos:exactMatch UMLS:C0339085 semapv:UnspecifiedMatching MONDO:0007198 Ascher syndrome skos:exactMatch mesh:C562742 semapv:UnspecifiedMatching MONDO:0007199 blepharochalasis, superior skos:exactMatch OMIM:110000 blepharochalasis, superior semapv:UnspecifiedMatching MONDO:0007199 blepharochalasis, superior skos:exactMatch UMLS:C1862275 semapv:UnspecifiedMatching MONDO:0007199 blepharochalasis, superior skos:exactMatch mesh:C566223 semapv:UnspecifiedMatching MONDO:0007200 blepharonasofacial malformation syndrome skos:exactMatch OMIM:110050 blepharonasofacial malformation syndrome semapv:UnspecifiedMatching MONDO:0007200 blepharonasofacial malformation syndrome skos:exactMatch Orphanet:1252 Blepharonasofacial malformation syndrome semapv:UnspecifiedMatching MONDO:0007200 blepharonasofacial malformation syndrome skos:exactMatch SCTID:717913006 semapv:UnspecifiedMatching MONDO:0007200 blepharonasofacial malformation syndrome skos:exactMatch UMLS:C0796197 semapv:UnspecifiedMatching MONDO:0007200 blepharonasofacial malformation syndrome skos:exactMatch mesh:C536303 semapv:UnspecifiedMatching MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:exactMatch DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome semapv:UnspecifiedMatching MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:exactMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:UnspecifiedMatching MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:exactMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:UnspecifiedMatching MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:exactMatch SCTID:715391004 semapv:UnspecifiedMatching MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:exactMatch UMLS:C0220663 semapv:UnspecifiedMatching MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:exactMatch mesh:C562419 semapv:UnspecifiedMatching MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:exactMatch OMIM:110150 blepharoptosis, myopia, and ectopia lentis semapv:UnspecifiedMatching MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:exactMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:UnspecifiedMatching MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:exactMatch SCTID:717915004 semapv:UnspecifiedMatching MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:exactMatch UMLS:C1862259 semapv:UnspecifiedMatching MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:exactMatch mesh:C536236 semapv:UnspecifiedMatching MONDO:0007203 blue rubber bleb nevus skos:exactMatch NCIT:C4486 Blue Rubber Bleb Nevus semapv:UnspecifiedMatching MONDO:0007203 blue rubber bleb nevus skos:exactMatch OMIM:112200 blue rubber bleb nevus semapv:UnspecifiedMatching MONDO:0007203 blue rubber bleb nevus skos:exactMatch Orphanet:1059 Blue rubber bleb nevus semapv:UnspecifiedMatching MONDO:0007203 blue rubber bleb nevus skos:exactMatch SCTID:254784002 semapv:UnspecifiedMatching MONDO:0007203 blue rubber bleb nevus skos:exactMatch UMLS:C0346072 semapv:UnspecifiedMatching MONDO:0007203 blue rubber bleb nevus skos:exactMatch mesh:C536240 semapv:UnspecifiedMatching MONDO:0007204 Cole-Carpenter syndrome 1 skos:exactMatch OMIM:112240 cole-carpenter syndrome 1 semapv:UnspecifiedMatching MONDO:0007204 Cole-Carpenter syndrome 1 skos:exactMatch UMLS:C4317154 semapv:UnspecifiedMatching MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:UnspecifiedMatching MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch NCIT:C122660 Hardcastle's Syndrome semapv:UnspecifiedMatching MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:UnspecifiedMatching MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:UnspecifiedMatching MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch UMLS:C1862177 semapv:UnspecifiedMatching MONDO:0007206 bone pain, periodic skos:exactMatch OMIM:112270 bone pain, periodic semapv:UnspecifiedMatching MONDO:0007207 Böök syndrome skos:exactMatch OMIM:112300 book syndrome semapv:UnspecifiedMatching MONDO:0007207 Böök syndrome skos:exactMatch Orphanet:1262 Böök syndrome semapv:UnspecifiedMatching MONDO:0007207 Böök syndrome skos:exactMatch SCTID:722296002 semapv:UnspecifiedMatching MONDO:0007207 Böök syndrome skos:exactMatch UMLS:C0457014 semapv:UnspecifiedMatching MONDO:0007207 Böök syndrome skos:exactMatch mesh:C562993 semapv:UnspecifiedMatching MONDO:0007208 Boomerang dysplasia skos:exactMatch DOID:0050680 Boomerang dysplasia semapv:UnspecifiedMatching MONDO:0007208 Boomerang dysplasia skos:exactMatch OMIM:112310 boomerang dysplasia semapv:UnspecifiedMatching MONDO:0007208 Boomerang dysplasia skos:exactMatch Orphanet:1263 Boomerang dysplasia semapv:UnspecifiedMatching MONDO:0007208 Boomerang dysplasia skos:exactMatch SCTID:254054000 semapv:UnspecifiedMatching MONDO:0007208 Boomerang dysplasia skos:exactMatch UMLS:C0432201 semapv:UnspecifiedMatching MONDO:0007208 Boomerang dysplasia skos:exactMatch mesh:C536573 semapv:UnspecifiedMatching MONDO:0007209 Weismann-Netter syndrome skos:exactMatch OMIM:112350 weismann-netter syndrome semapv:UnspecifiedMatching MONDO:0007209 Weismann-Netter syndrome skos:exactMatch Orphanet:3344 Weismann-Netter syndrome semapv:UnspecifiedMatching MONDO:0007209 Weismann-Netter syndrome skos:exactMatch SCTID:715532007 semapv:UnspecifiedMatching MONDO:0007209 Weismann-Netter syndrome skos:exactMatch UMLS:C1862172 semapv:UnspecifiedMatching MONDO:0007209 Weismann-Netter syndrome skos:exactMatch mesh:C537082 semapv:UnspecifiedMatching MONDO:0007210 Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay skos:exactMatch OMIM:112370 brachmann-de lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay semapv:UnspecifiedMatching MONDO:0007210 Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay skos:exactMatch UMLS:C1862171 semapv:UnspecifiedMatching MONDO:0007210 Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay skos:exactMatch mesh:C566206 semapv:UnspecifiedMatching MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:exactMatch DOID:0111247 hypertension and brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:exactMatch OMIM:112410 hypertension and brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:exactMatch Orphanet:1276 Brachydactyly-arterial hypertension syndrome semapv:UnspecifiedMatching MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:exactMatch SCTID:720568003 semapv:UnspecifiedMatching MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:exactMatch UMLS:C1862170 semapv:UnspecifiedMatching MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:exactMatch mesh:C537095 semapv:UnspecifiedMatching MONDO:0007212 brachydactyly-long thumb syndrome skos:exactMatch OMIM:112430 long-thumb brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0007212 brachydactyly-long thumb syndrome skos:exactMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:UnspecifiedMatching MONDO:0007212 brachydactyly-long thumb syndrome skos:exactMatch SCTID:733454004 semapv:UnspecifiedMatching MONDO:0007212 brachydactyly-long thumb syndrome skos:exactMatch UMLS:C1862169 semapv:UnspecifiedMatching MONDO:0007212 brachydactyly-long thumb syndrome skos:exactMatch mesh:C566204 semapv:UnspecifiedMatching MONDO:0007213 Ballard syndrome skos:exactMatch DOID:0110963 Ballard syndrome semapv:UnspecifiedMatching MONDO:0007213 Ballard syndrome skos:exactMatch OMIM:112440 brachydactyly, combined B and e types semapv:UnspecifiedMatching MONDO:0007213 Ballard syndrome skos:exactMatch SCTID:722298001 semapv:UnspecifiedMatching MONDO:0007213 Ballard syndrome skos:exactMatch UMLS:C1862163 semapv:UnspecifiedMatching MONDO:0007213 Ballard syndrome skos:exactMatch mesh:C537094 semapv:UnspecifiedMatching MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:exactMatch DOID:0110962 brachydactyly-preaxial hallux varus syndrome semapv:UnspecifiedMatching MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:exactMatch OMIM:112450 brachydactyly, preaxial, with hallux varus and thumb abduction semapv:UnspecifiedMatching MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:exactMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:UnspecifiedMatching MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:exactMatch UMLS:C1862162 semapv:UnspecifiedMatching MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:exactMatch mesh:C537087 semapv:UnspecifiedMatching MONDO:0007215 brachydactyly type A1 skos:exactMatch DOID:0110964 brachydactyly type A1 semapv:UnspecifiedMatching MONDO:0007215 brachydactyly type A1 skos:exactMatch OMIM:112500 brachydactyly, iia a1 semapv:UnspecifiedMatching MONDO:0007215 brachydactyly type A1 skos:exactMatch Orphanet:93388 Brachydactyly type A1 semapv:UnspecifiedMatching MONDO:0007215 brachydactyly type A1 skos:exactMatch SCTID:715720006 semapv:UnspecifiedMatching MONDO:0007215 brachydactyly type A1 skos:exactMatch UMLS:C1862151 semapv:UnspecifiedMatching MONDO:0007215 brachydactyly type A1 skos:exactMatch mesh:C537088 semapv:UnspecifiedMatching MONDO:0007216 brachydactyly type A2 skos:exactMatch DOID:0110965 brachydactyly type A2 semapv:UnspecifiedMatching MONDO:0007216 brachydactyly type A2 skos:exactMatch OMIM:112600 brachydactyly, iia a2 semapv:UnspecifiedMatching MONDO:0007216 brachydactyly type A2 skos:exactMatch Orphanet:93396 Brachydactyly type A2 semapv:UnspecifiedMatching MONDO:0007216 brachydactyly type A2 skos:exactMatch SCTID:720569006 semapv:UnspecifiedMatching MONDO:0007216 brachydactyly type A2 skos:exactMatch mesh:C537089 semapv:UnspecifiedMatching MONDO:0007217 brachydactyly type A3 skos:exactMatch DOID:0110966 brachydactyly type A3 semapv:UnspecifiedMatching MONDO:0007217 brachydactyly type A3 skos:exactMatch OMIM:112700 brachydactyly, iia a3 semapv:UnspecifiedMatching MONDO:0007217 brachydactyly type A3 skos:exactMatch UMLS:C1862140 semapv:UnspecifiedMatching MONDO:0007217 brachydactyly type A3 skos:exactMatch mesh:C537090 semapv:UnspecifiedMatching MONDO:0007218 brachydactyly type A4 skos:exactMatch DOID:0110967 brachydactyly type A4 semapv:UnspecifiedMatching MONDO:0007218 brachydactyly type A4 skos:exactMatch OMIM:112800 brachydactyly, iia a4 semapv:UnspecifiedMatching MONDO:0007218 brachydactyly type A4 skos:exactMatch Orphanet:93394 Brachydactyly type A4 semapv:UnspecifiedMatching MONDO:0007218 brachydactyly type A4 skos:exactMatch SCTID:715721005 semapv:UnspecifiedMatching MONDO:0007218 brachydactyly type A4 skos:exactMatch mesh:C537097 semapv:UnspecifiedMatching MONDO:0007219 Osebold-Remondini syndrome skos:exactMatch DOID:0110968 brachydactyly type A6 semapv:UnspecifiedMatching MONDO:0007219 Osebold-Remondini syndrome skos:exactMatch OMIM:112910 osebold-remondini syndrome semapv:UnspecifiedMatching MONDO:0007219 Osebold-Remondini syndrome skos:exactMatch Orphanet:93382 Brachydactyly type A6 semapv:UnspecifiedMatching MONDO:0007219 Osebold-Remondini syndrome skos:exactMatch SCTID:715722003 semapv:UnspecifiedMatching MONDO:0007219 Osebold-Remondini syndrome skos:exactMatch UMLS:C1862130 semapv:UnspecifiedMatching MONDO:0007219 Osebold-Remondini syndrome skos:exactMatch mesh:C537092 semapv:UnspecifiedMatching MONDO:0007220 brachydactyly type B1 skos:exactMatch DOID:0110969 brachydactyly type B1 semapv:UnspecifiedMatching MONDO:0007220 brachydactyly type B1 skos:exactMatch OMIM:113000 brachydactyly, iia b1 semapv:UnspecifiedMatching MONDO:0007220 brachydactyly type B1 skos:exactMatch Orphanet:572385 Brachydactyly type B1 semapv:UnspecifiedMatching MONDO:0007220 brachydactyly type B1 skos:exactMatch mesh:C566196 semapv:UnspecifiedMatching MONDO:0007221 brachydactyly type C skos:exactMatch DOID:0110970 brachydactyly type C semapv:UnspecifiedMatching MONDO:0007221 brachydactyly type C skos:exactMatch OMIM:113100 brachydactyly, iia c semapv:UnspecifiedMatching MONDO:0007221 brachydactyly type C skos:exactMatch Orphanet:93384 Brachydactyly type C semapv:UnspecifiedMatching MONDO:0007221 brachydactyly type C skos:exactMatch UMLS:C1862103 semapv:UnspecifiedMatching MONDO:0007221 brachydactyly type C skos:exactMatch mesh:C537093 semapv:UnspecifiedMatching MONDO:0007222 brachydactyly type D skos:exactMatch DOID:0110971 brachydactyly type D semapv:UnspecifiedMatching MONDO:0007222 brachydactyly type D skos:exactMatch OMIM:113200 brachydactyly, iia d semapv:UnspecifiedMatching MONDO:0007222 brachydactyly type D skos:exactMatch mesh:C562420 semapv:UnspecifiedMatching MONDO:0007223 brachydactyly type E1 skos:exactMatch DOID:0110972 brachydactyly type E1 semapv:UnspecifiedMatching MONDO:0007223 brachydactyly type E1 skos:exactMatch OMIM:113300 brachydactyly, iia e1 semapv:UnspecifiedMatching MONDO:0007223 brachydactyly type E1 skos:exactMatch mesh:C566194 semapv:UnspecifiedMatching MONDO:0007224 brachydactyly, type E, with atrial septal defect, type 2 skos:exactMatch OMIM:113301 brachydactyly, iia e, with atrial septal defect, iia 2 semapv:UnspecifiedMatching MONDO:0007224 brachydactyly, type E, with atrial septal defect, type 2 skos:exactMatch UMLS:C1862101 semapv:UnspecifiedMatching MONDO:0007224 brachydactyly, type E, with atrial septal defect, type 2 skos:exactMatch mesh:C566193 semapv:UnspecifiedMatching MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:exactMatch OMIM:113310 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia semapv:UnspecifiedMatching MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:exactMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:UnspecifiedMatching MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:exactMatch UMLS:C1862100 semapv:UnspecifiedMatching MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:exactMatch mesh:C537930 semapv:UnspecifiedMatching MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:exactMatch OMIM:113400 brachydactyly-nystagmus-cerebellar ataxia semapv:UnspecifiedMatching MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:exactMatch Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome semapv:UnspecifiedMatching MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:exactMatch SCTID:205828009 semapv:UnspecifiedMatching MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:exactMatch mesh:C566192 semapv:UnspecifiedMatching MONDO:0007227 Sillence syndrome skos:exactMatch OMIM:113450 brachydactyly-distal symphalangism syndrome semapv:UnspecifiedMatching MONDO:0007227 Sillence syndrome skos:exactMatch Orphanet:3168 Sillence syndrome semapv:UnspecifiedMatching MONDO:0007227 Sillence syndrome skos:exactMatch SCTID:732956000 semapv:UnspecifiedMatching MONDO:0007227 Sillence syndrome skos:exactMatch UMLS:C1862092 semapv:UnspecifiedMatching MONDO:0007227 Sillence syndrome skos:exactMatch mesh:C537338 semapv:UnspecifiedMatching MONDO:0007228 brachymesomelia-renal syndrome skos:exactMatch OMIM:113470 brachymesomelia-renal syndrome semapv:UnspecifiedMatching MONDO:0007228 brachymesomelia-renal syndrome skos:exactMatch UMLS:C1862084 semapv:UnspecifiedMatching MONDO:0007228 brachymesomelia-renal syndrome skos:exactMatch mesh:C537096 semapv:UnspecifiedMatching MONDO:0007229 Brachymetatarsus 4 skos:exactMatch OMIM:113475 brachymetatarsus 4 semapv:UnspecifiedMatching MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:exactMatch OMIM:113477 brachymorphism-onychodysplasia-dysphalangism syndrome semapv:UnspecifiedMatching MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:exactMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:UnspecifiedMatching MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:exactMatch SCTID:720573009 semapv:UnspecifiedMatching MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:exactMatch UMLS:C1862082 semapv:UnspecifiedMatching MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:exactMatch mesh:C536242 semapv:UnspecifiedMatching MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:exactMatch OMIM:113480 brachytelephalangy with characteristic facies and kallmann syndrome semapv:UnspecifiedMatching MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:exactMatch Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome semapv:UnspecifiedMatching MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:exactMatch UMLS:C2931421 semapv:UnspecifiedMatching MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:exactMatch mesh:C537101 semapv:UnspecifiedMatching MONDO:0007232 autosomal dominant brachyolmia skos:exactMatch OMIM:113500 brachyolmia iia 3 semapv:UnspecifiedMatching MONDO:0007232 autosomal dominant brachyolmia skos:exactMatch Orphanet:93304 Autosomal dominant brachyolmia semapv:UnspecifiedMatching MONDO:0007232 autosomal dominant brachyolmia skos:exactMatch SCTID:717264003 semapv:UnspecifiedMatching MONDO:0007233 second branchial cleft anomaly skos:exactMatch NCIT:C104813 Branchial Cleft Remnant semapv:UnspecifiedMatching MONDO:0007233 second branchial cleft anomaly skos:exactMatch OMIM:113600 branchial cleft anomalies semapv:UnspecifiedMatching MONDO:0007233 second branchial cleft anomaly skos:exactMatch Orphanet:141022 Second branchial cleft anomaly semapv:UnspecifiedMatching MONDO:0007233 second branchial cleft anomaly skos:exactMatch SCTID:73381000119100 semapv:UnspecifiedMatching MONDO:0007234 branchial myoclonus with spastic paraparesis and cerebellar ataxia skos:exactMatch OMIM:113610 branchial myoclonus with spastic paraparesis and cerebellar ataxia semapv:UnspecifiedMatching MONDO:0007234 branchial myoclonus with spastic paraparesis and cerebellar ataxia skos:exactMatch UMLS:C1862071 semapv:UnspecifiedMatching MONDO:0007234 branchial myoclonus with spastic paraparesis and cerebellar ataxia skos:exactMatch mesh:C566188 semapv:UnspecifiedMatching MONDO:0007235 branchiooculofacial syndrome skos:exactMatch DOID:0050691 branchiooculofacial syndrome semapv:UnspecifiedMatching MONDO:0007235 branchiooculofacial syndrome skos:exactMatch OMIM:113620 branchiooculofacial syndrome semapv:UnspecifiedMatching MONDO:0007235 branchiooculofacial syndrome skos:exactMatch Orphanet:1297 Branchio-oculo-facial syndrome semapv:UnspecifiedMatching MONDO:0007235 branchiooculofacial syndrome skos:exactMatch SCTID:449821007 semapv:UnspecifiedMatching MONDO:0007236 branchiootorenal syndrome 1 skos:exactMatch DOID:0111423 branchiootorenal syndrome 1 semapv:UnspecifiedMatching MONDO:0007236 branchiootorenal syndrome 1 skos:exactMatch OMIM:113650 branchiootorenal syndrome 1 semapv:UnspecifiedMatching MONDO:0007237 familial juvenile hypertrophy of the breast skos:exactMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:UnspecifiedMatching MONDO:0007237 familial juvenile hypertrophy of the breast skos:exactMatch Orphanet:180176 Familial juvenile hypertrophy of the breast semapv:UnspecifiedMatching MONDO:0007237 familial juvenile hypertrophy of the breast skos:exactMatch UMLS:C0405471 semapv:UnspecifiedMatching MONDO:0007237 familial juvenile hypertrophy of the breast skos:exactMatch mesh:C536821 semapv:UnspecifiedMatching MONDO:0007238 amastia skos:exactMatch NCIT:C118459 Amastia semapv:UnspecifiedMatching MONDO:0007238 amastia skos:exactMatch SCTID:75474006 semapv:UnspecifiedMatching MONDO:0007238 amastia skos:exactMatch UMLS:CN033494 semapv:UnspecifiedMatching MONDO:0007238 amastia skos:exactMatch mesh:C535565 semapv:UnspecifiedMatching MONDO:0007239 epidermolytic ichthyosis skos:exactMatch DOID:0081358 epidermolytic hyperkeratosis 1 semapv:UnspecifiedMatching MONDO:0007239 epidermolytic ichthyosis skos:exactMatch DOID:4603 epidermolytic hyperkeratosis semapv:UnspecifiedMatching MONDO:0007239 epidermolytic ichthyosis skos:exactMatch NCIT:C62569 Epidermolytic Ichthyosis semapv:UnspecifiedMatching MONDO:0007239 epidermolytic ichthyosis skos:exactMatch OMIM:113800 epidermolytic hyperkeratosis 1 semapv:UnspecifiedMatching MONDO:0007239 epidermolytic ichthyosis skos:exactMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:UnspecifiedMatching MONDO:0007239 epidermolytic ichthyosis skos:exactMatch SCTID:254167000 semapv:UnspecifiedMatching MONDO:0007239 epidermolytic ichthyosis skos:exactMatch mesh:D017488 semapv:UnspecifiedMatching MONDO:0007240 progressive familial heart block, type 1A skos:exactMatch DOID:0111074 progressive familial heart block type IA semapv:UnspecifiedMatching MONDO:0007240 progressive familial heart block, type 1A skos:exactMatch NCIT:C126651 Progressive Familial Heart Block, Type Ia semapv:UnspecifiedMatching MONDO:0007240 progressive familial heart block, type 1A skos:exactMatch OMIM:113900 progressive familial heart block, iia 1a semapv:UnspecifiedMatching MONDO:0007240 progressive familial heart block, type 1A skos:exactMatch mesh:D002037 semapv:UnspecifiedMatching MONDO:0007241 bundle branch block, familial isolated complete right skos:exactMatch OMIM:113950 bundle branch block, familial isolated complete right semapv:UnspecifiedMatching MONDO:0007241 bundle branch block, familial isolated complete right skos:exactMatch SCTID:233919006 semapv:UnspecifiedMatching MONDO:0007241 bundle branch block, familial isolated complete right skos:exactMatch UMLS:C0340504 semapv:UnspecifiedMatching MONDO:0007241 bundle branch block, familial isolated complete right skos:exactMatch mesh:C562759 semapv:UnspecifiedMatching MONDO:0007242 butyrylesterase 1 skos:exactMatch OMIM:113960 butyrylesterase 1 semapv:UnspecifiedMatching MONDO:0007243 Burkitt lymphoma skos:exactMatch DOID:8584 Burkitt lymphoma semapv:UnspecifiedMatching MONDO:0007243 Burkitt lymphoma skos:exactMatch NCIT:C2912 Burkitt Lymphoma semapv:UnspecifiedMatching MONDO:0007243 Burkitt lymphoma skos:exactMatch OMIM:113970 burkitt lymphoma semapv:UnspecifiedMatching MONDO:0007243 Burkitt lymphoma skos:exactMatch Orphanet:543 Burkitt lymphoma semapv:UnspecifiedMatching MONDO:0007243 Burkitt lymphoma skos:exactMatch SCTID:118617000 semapv:UnspecifiedMatching MONDO:0007243 Burkitt lymphoma skos:exactMatch UMLS:C0006413 semapv:UnspecifiedMatching MONDO:0007243 Burkitt lymphoma skos:exactMatch mesh:D002051 semapv:UnspecifiedMatching MONDO:0007244 Caffey disease skos:exactMatch DOID:4257 Caffey disease semapv:UnspecifiedMatching MONDO:0007244 Caffey disease skos:exactMatch NCIT:C118423 Infantile Cortical Hyperostosis semapv:UnspecifiedMatching MONDO:0007244 Caffey disease skos:exactMatch OMIM:114000 caffey disease semapv:UnspecifiedMatching MONDO:0007244 Caffey disease skos:exactMatch Orphanet:1310 Caffey disease semapv:UnspecifiedMatching MONDO:0007244 Caffey disease skos:exactMatch SCTID:24752008 semapv:UnspecifiedMatching MONDO:0007244 Caffey disease skos:exactMatch UMLS:C0020497 semapv:UnspecifiedMatching MONDO:0007244 Caffey disease skos:exactMatch mesh:D006958 semapv:UnspecifiedMatching MONDO:0007245 cafe au lait spots, multiple skos:exactMatch OMIM:114030 cafe-au-lait spots, multiple semapv:UnspecifiedMatching MONDO:0007245 cafe au lait spots, multiple skos:exactMatch Orphanet:2678 Familial isolated café-au-lait macules semapv:UnspecifiedMatching MONDO:0007245 cafe au lait spots, multiple skos:exactMatch UMLS:C1861975 semapv:UnspecifiedMatching MONDO:0007245 cafe au lait spots, multiple skos:exactMatch mesh:C537421 semapv:UnspecifiedMatching MONDO:0007246 calcific aortic disease with immunologic abnormalities, familial skos:exactMatch OMIM:114065 calcific aortic disease with immunologic abnormalities, familial semapv:UnspecifiedMatching MONDO:0007246 calcific aortic disease with immunologic abnormalities, familial skos:exactMatch UMLS:C1861974 semapv:UnspecifiedMatching MONDO:0007246 calcific aortic disease with immunologic abnormalities, familial skos:exactMatch mesh:C566182 semapv:UnspecifiedMatching MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:exactMatch OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset semapv:UnspecifiedMatching MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:exactMatch UMLS:C1861967 semapv:UnspecifiedMatching MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:exactMatch mesh:C536276 semapv:UnspecifiedMatching MONDO:0007248 hereditary painful callosities skos:exactMatch OMIM:114140 callosities, hereditary painful semapv:UnspecifiedMatching MONDO:0007248 hereditary painful callosities skos:exactMatch Orphanet:79141 Hereditary painful callosities semapv:UnspecifiedMatching MONDO:0007248 hereditary painful callosities skos:exactMatch UMLS:C1861964 semapv:UnspecifiedMatching MONDO:0007248 hereditary painful callosities skos:exactMatch mesh:C566180 semapv:UnspecifiedMatching MONDO:0007249 camptobrachydactyly skos:exactMatch OMIM:114150 camptobrachydactyly semapv:UnspecifiedMatching MONDO:0007249 camptobrachydactyly skos:exactMatch Orphanet:1319 Camptobrachydactyly semapv:UnspecifiedMatching MONDO:0007249 camptobrachydactyly skos:exactMatch SCTID:733045005 semapv:UnspecifiedMatching MONDO:0007249 camptobrachydactyly skos:exactMatch mesh:C537967 semapv:UnspecifiedMatching MONDO:0007250 camptodactyly of fingers skos:exactMatch OMIM:114200 camptodactyly 1 semapv:UnspecifiedMatching MONDO:0007250 camptodactyly of fingers skos:exactMatch Orphanet:295016 Camptodactyly of fingers semapv:UnspecifiedMatching MONDO:0007250 camptodactyly of fingers skos:exactMatch SCTID:29271008 semapv:UnspecifiedMatching MONDO:0007250 camptodactyly of fingers skos:exactMatch mesh:C536852 semapv:UnspecifiedMatching MONDO:0007250 camptodactyly of fingers skos:exactMatch mesh:C567780 semapv:UnspecifiedMatching MONDO:0007251 campomelic dysplasia skos:exactMatch DOID:0050463 campomelic dysplasia semapv:UnspecifiedMatching MONDO:0007251 campomelic dysplasia skos:exactMatch NCIT:C84609 Campomelic Dysplasia semapv:UnspecifiedMatching MONDO:0007251 campomelic dysplasia skos:exactMatch OMIM:114290 campomelic dysplasia semapv:UnspecifiedMatching MONDO:0007251 campomelic dysplasia skos:exactMatch Orphanet:140 Campomelic dysplasia semapv:UnspecifiedMatching MONDO:0007251 campomelic dysplasia skos:exactMatch SCTID:74928006 semapv:UnspecifiedMatching MONDO:0007251 campomelic dysplasia skos:exactMatch UMLS:C1861922 semapv:UnspecifiedMatching MONDO:0007251 campomelic dysplasia skos:exactMatch mesh:D055036 semapv:UnspecifiedMatching MONDO:0007252 Gordon syndrome skos:exactMatch DOID:0111607 distal arthrogryposis type 3 semapv:UnspecifiedMatching MONDO:0007252 Gordon syndrome skos:exactMatch OMIM:114300 arthrogryposis, distal, iia 3 semapv:UnspecifiedMatching MONDO:0007252 Gordon syndrome skos:exactMatch Orphanet:376 Gordon syndrome semapv:UnspecifiedMatching MONDO:0007252 Gordon syndrome skos:exactMatch SCTID:237850008 semapv:UnspecifiedMatching MONDO:0007252 Gordon syndrome skos:exactMatch UMLS:C0220666 semapv:UnspecifiedMatching MONDO:0007252 Gordon syndrome skos:exactMatch mesh:C537288 semapv:UnspecifiedMatching MONDO:0007253 cancer, familial, with in vitro Radioresistance skos:exactMatch OMIM:114450 cancer, familial, with 1n vitro radioresistance semapv:UnspecifiedMatching MONDO:0007253 cancer, familial, with in vitro Radioresistance skos:exactMatch UMLS:C1861915 semapv:UnspecifiedMatching MONDO:0007253 cancer, familial, with in vitro Radioresistance skos:exactMatch mesh:C566179 semapv:UnspecifiedMatching MONDO:0007254 breast cancer skos:exactMatch DOID:1612 breast cancer semapv:UnspecifiedMatching MONDO:0007254 breast cancer skos:exactMatch ICD10CM:C50 Malignant neoplasm of breast semapv:UnspecifiedMatching MONDO:0007254 breast cancer skos:exactMatch NCIT:C9335 Malignant Breast Neoplasm semapv:UnspecifiedMatching MONDO:0007254 breast cancer skos:exactMatch SCTID:254837009 semapv:UnspecifiedMatching MONDO:0007256 hepatocellular carcinoma skos:exactMatch DOID:684 hepatocellular carcinoma semapv:UnspecifiedMatching MONDO:0007256 hepatocellular carcinoma skos:exactMatch DOID:686 liver carcinoma semapv:UnspecifiedMatching MONDO:0007256 hepatocellular carcinoma skos:exactMatch NCIT:C3099 Hepatocellular Carcinoma semapv:UnspecifiedMatching MONDO:0007256 hepatocellular carcinoma skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:UnspecifiedMatching MONDO:0007256 hepatocellular carcinoma skos:exactMatch Orphanet:88673 Hepatocellular carcinoma semapv:UnspecifiedMatching MONDO:0007256 hepatocellular carcinoma skos:exactMatch mesh:D006528 semapv:UnspecifiedMatching MONDO:0007257 candidiasis, familial, 1 skos:exactMatch OMIM:114580 candidiasis, familial, 1 semapv:UnspecifiedMatching MONDO:0007257 candidiasis, familial, 1 skos:exactMatch UMLS:C2751429 semapv:UnspecifiedMatching MONDO:0007257 candidiasis, familial, 1 skos:exactMatch mesh:C567779 semapv:UnspecifiedMatching MONDO:0007258 canine teeth, absence of upper permanent skos:exactMatch OMIM:114600 canine teeth, absence of upper permanent semapv:UnspecifiedMatching MONDO:0007258 canine teeth, absence of upper permanent skos:exactMatch UMLS:C1861899 semapv:UnspecifiedMatching MONDO:0007259 craniofaciofrontodigital syndrome skos:exactMatch OMIM:114620 craniofaciofrontodigital syndrome semapv:UnspecifiedMatching MONDO:0007259 craniofaciofrontodigital syndrome skos:exactMatch Orphanet:363705 Craniofaciofrontodigital syndrome semapv:UnspecifiedMatching MONDO:0007259 craniofaciofrontodigital syndrome skos:exactMatch SCTID:763320005 semapv:UnspecifiedMatching MONDO:0007259 craniofaciofrontodigital syndrome skos:exactMatch UMLS:C2676032 semapv:UnspecifiedMatching MONDO:0007259 craniofaciofrontodigital syndrome skos:exactMatch mesh:C567298 semapv:UnspecifiedMatching MONDO:0007260 Car factor deficiency skos:exactMatch OMIM:114650 car factor deficiency semapv:UnspecifiedMatching MONDO:0007260 Car factor deficiency skos:exactMatch UMLS:C1861898 semapv:UnspecifiedMatching MONDO:0007260 Car factor deficiency skos:exactMatch mesh:C566176 semapv:UnspecifiedMatching MONDO:0007261 Carabelli anomaly of maxillary molar teeth skos:exactMatch OMIM:114700 carabelli anomaly of maxillary molar teeth semapv:UnspecifiedMatching MONDO:0007261 Carabelli anomaly of maxillary molar teeth skos:exactMatch UMLS:C1861897 semapv:UnspecifiedMatching MONDO:0007261 Carabelli anomaly of maxillary molar teeth skos:exactMatch mesh:C566175 semapv:UnspecifiedMatching MONDO:0007263 cardiac rhythm disease skos:exactMatch NCIT:C2881 Arrhythmia semapv:UnspecifiedMatching MONDO:0007263 cardiac rhythm disease skos:exactMatch SCTID:698247007 semapv:UnspecifiedMatching MONDO:0007264 obsolete sudden cardiac death skos:exactMatch SCTID:95281009 semapv:UnspecifiedMatching MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:exactMatch DOID:0111460 cardiofaciocutaneous syndrome 1 semapv:UnspecifiedMatching MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:exactMatch OMIM:115150 cardiofaciocutaneous syndrome 1 semapv:UnspecifiedMatching MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:exactMatch UMLS:CN029449 semapv:UnspecifiedMatching MONDO:0007266 hypertrophic cardiomyopathy 2 skos:exactMatch DOID:0110308 hypertrophic cardiomyopathy 2 semapv:UnspecifiedMatching MONDO:0007266 hypertrophic cardiomyopathy 2 skos:exactMatch NCIT:C142892 Familial Hypertrophic Cardiomyopathy Type 2 semapv:UnspecifiedMatching MONDO:0007266 hypertrophic cardiomyopathy 2 skos:exactMatch OMIM:115195 cardiomyopathy, familial hypertrophic, 2 semapv:UnspecifiedMatching MONDO:0007266 hypertrophic cardiomyopathy 2 skos:exactMatch UMLS:C1861864 semapv:UnspecifiedMatching MONDO:0007266 hypertrophic cardiomyopathy 2 skos:exactMatch mesh:C566171 semapv:UnspecifiedMatching MONDO:0007267 hypertrophic cardiomyopathy 3 skos:exactMatch DOID:0110309 hypertrophic cardiomyopathy 3 semapv:UnspecifiedMatching MONDO:0007267 hypertrophic cardiomyopathy 3 skos:exactMatch OMIM:115196 cardiomyopathy, familial hypertrophic, 3 semapv:UnspecifiedMatching MONDO:0007267 hypertrophic cardiomyopathy 3 skos:exactMatch UMLS:C1861863 semapv:UnspecifiedMatching MONDO:0007267 hypertrophic cardiomyopathy 3 skos:exactMatch mesh:C566170 semapv:UnspecifiedMatching MONDO:0007268 hypertrophic cardiomyopathy 4 skos:exactMatch DOID:0110310 hypertrophic cardiomyopathy 4 semapv:UnspecifiedMatching MONDO:0007268 hypertrophic cardiomyopathy 4 skos:exactMatch NCIT:C133725 Familial Hypertrophic Cardiomyopathy Type 4 semapv:UnspecifiedMatching MONDO:0007268 hypertrophic cardiomyopathy 4 skos:exactMatch OMIM:115197 cardiomyopathy, familial hypertrophic, 4 semapv:UnspecifiedMatching MONDO:0007268 hypertrophic cardiomyopathy 4 skos:exactMatch UMLS:C1861862 semapv:UnspecifiedMatching MONDO:0007268 hypertrophic cardiomyopathy 4 skos:exactMatch mesh:C566169 semapv:UnspecifiedMatching MONDO:0007269 dilated cardiomyopathy 1A skos:exactMatch DOID:0110425 dilated cardiomyopathy 1A semapv:UnspecifiedMatching MONDO:0007269 dilated cardiomyopathy 1A skos:exactMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:UnspecifiedMatching MONDO:0007269 dilated cardiomyopathy 1A skos:exactMatch Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation semapv:UnspecifiedMatching MONDO:0007269 dilated cardiomyopathy 1A skos:exactMatch SCTID:766883006 semapv:UnspecifiedMatching MONDO:0007269 dilated cardiomyopathy 1A skos:exactMatch UMLS:C1449563 semapv:UnspecifiedMatching MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:exactMatch DOID:0111425 restrictive cardiomyopathy 1 semapv:UnspecifiedMatching MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:exactMatch OMIM:115210 cardiomyopathy, familial restrictive, 1 semapv:UnspecifiedMatching MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:exactMatch UMLS:C1861861 semapv:UnspecifiedMatching MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:exactMatch mesh:C566168 semapv:UnspecifiedMatching MONDO:0007271 familial cutaneous collagenoma skos:exactMatch OMIM:115250 collagenoma, familial cutaneous semapv:UnspecifiedMatching MONDO:0007271 familial cutaneous collagenoma skos:exactMatch Orphanet:53296 Familial cutaneous collagenoma semapv:UnspecifiedMatching MONDO:0007271 familial cutaneous collagenoma skos:exactMatch SCTID:239139000 semapv:UnspecifiedMatching MONDO:0007271 familial cutaneous collagenoma skos:exactMatch UMLS:C0406817 semapv:UnspecifiedMatching MONDO:0007271 familial cutaneous collagenoma skos:exactMatch mesh:C562925 semapv:UnspecifiedMatching MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:exactMatch OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant semapv:UnspecifiedMatching MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:exactMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:UnspecifiedMatching MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:exactMatch SCTID:726079008 semapv:UnspecifiedMatching MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:exactMatch mesh:C567296 semapv:UnspecifiedMatching MONDO:0007273 paragangliomas 4 skos:exactMatch OMIM:115310 pheochromocytoma/paraganglioma syndrome 4 semapv:UnspecifiedMatching MONDO:0007273 paragangliomas 4 skos:exactMatch UMLS:C1861848 semapv:UnspecifiedMatching MONDO:0007274 carpal displacement skos:exactMatch OMIM:115400 carpal displacement semapv:UnspecifiedMatching MONDO:0007274 carpal displacement skos:exactMatch UMLS:C1861847 semapv:UnspecifiedMatching MONDO:0007275 carpal tunnel syndrome skos:exactMatch DOID:12169 carpal tunnel syndrome semapv:UnspecifiedMatching MONDO:0007275 carpal tunnel syndrome skos:exactMatch ICD10CM:G56.0 Carpal tunnel syndrome semapv:UnspecifiedMatching MONDO:0007275 carpal tunnel syndrome skos:exactMatch NCIT:C34450 Carpal Tunnel Syndrome semapv:UnspecifiedMatching MONDO:0007275 carpal tunnel syndrome skos:exactMatch OMIMPS:115430 semapv:UnspecifiedMatching MONDO:0007275 carpal tunnel syndrome skos:exactMatch SCTID:57406009 semapv:UnspecifiedMatching MONDO:0007275 carpal tunnel syndrome skos:exactMatch UMLS:C0007286 semapv:UnspecifiedMatching MONDO:0007275 carpal tunnel syndrome skos:exactMatch mesh:D002349 semapv:UnspecifiedMatching MONDO:0007276 cat-eye syndrome skos:exactMatch NCIT:C75477 Cat-Eye Syndrome semapv:UnspecifiedMatching MONDO:0007276 cat-eye syndrome skos:exactMatch OMIM:115470 cat eye syndrome semapv:UnspecifiedMatching MONDO:0007276 cat-eye syndrome skos:exactMatch Orphanet:195 Cat-eye syndrome semapv:UnspecifiedMatching MONDO:0007276 cat-eye syndrome skos:exactMatch SCTID:26445008 semapv:UnspecifiedMatching MONDO:0007276 cat-eye syndrome skos:exactMatch UMLS:C0265493 semapv:UnspecifiedMatching MONDO:0007276 cat-eye syndrome skos:exactMatch mesh:C535918 semapv:UnspecifiedMatching MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:exactMatch OMIM:115645 cataract, aberrant oral frenula, and growth retardation semapv:UnspecifiedMatching MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:exactMatch Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome semapv:UnspecifiedMatching MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:exactMatch SCTID:715988005 semapv:UnspecifiedMatching MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:exactMatch mesh:C536691 semapv:UnspecifiedMatching MONDO:0007278 cataract 32 multiple types skos:exactMatch DOID:0110227 cataract 32 multiple types semapv:UnspecifiedMatching MONDO:0007278 cataract 32 multiple types skos:exactMatch OMIM:115650 cataract 32, multiple types semapv:UnspecifiedMatching MONDO:0007279 cataract 7 skos:exactMatch DOID:0110260 cataract 7 semapv:UnspecifiedMatching MONDO:0007279 cataract 7 skos:exactMatch OMIM:115660 cataract 7 semapv:UnspecifiedMatching MONDO:0007280 cataract 8 multiple types skos:exactMatch DOID:0110228 cataract 8 multiple types semapv:UnspecifiedMatching MONDO:0007280 cataract 8 multiple types skos:exactMatch OMIM:115665 cataract 8, multiple types semapv:UnspecifiedMatching MONDO:0007280 cataract 8 multiple types skos:exactMatch UMLS:C1861833 semapv:UnspecifiedMatching MONDO:0007280 cataract 8 multiple types skos:exactMatch mesh:C538285 semapv:UnspecifiedMatching MONDO:0007281 cataract 4 multiple types skos:exactMatch DOID:0110234 cataract 4 multiple types semapv:UnspecifiedMatching MONDO:0007281 cataract 4 multiple types skos:exactMatch OMIM:115700 cataract 4, multiple types semapv:UnspecifiedMatching MONDO:0007282 cataract 29 skos:exactMatch DOID:0110232 cataract 29 semapv:UnspecifiedMatching MONDO:0007282 cataract 29 skos:exactMatch OMIM:115800 cataract 29 semapv:UnspecifiedMatching MONDO:0007282 cataract 29 skos:exactMatch UMLS:C3805409 semapv:UnspecifiedMatching MONDO:0007283 cataract 42 skos:exactMatch DOID:0110237 cataract 42 semapv:UnspecifiedMatching MONDO:0007283 cataract 42 skos:exactMatch OMIM:115900 cataract 42 semapv:UnspecifiedMatching MONDO:0007283 cataract 42 skos:exactMatch UMLS:C4011454 semapv:UnspecifiedMatching MONDO:0007284 cataract 20 multiple types skos:exactMatch DOID:0110240 cataract 20 multiple types semapv:UnspecifiedMatching MONDO:0007284 cataract 20 multiple types skos:exactMatch OMIM:116100 cataract 20, multiple types semapv:UnspecifiedMatching MONDO:0007285 cataract 1 multiple types skos:exactMatch DOID:0110231 cataract 1 multiple types semapv:UnspecifiedMatching MONDO:0007285 cataract 1 multiple types skos:exactMatch OMIM:116200 cataract 1, multiple types semapv:UnspecifiedMatching MONDO:0007285 cataract 1 multiple types skos:exactMatch UMLS:C1861828 semapv:UnspecifiedMatching MONDO:0007285 cataract 1 multiple types skos:exactMatch mesh:C566158 semapv:UnspecifiedMatching MONDO:0007286 cataract 30 skos:exactMatch DOID:0110248 cataract 30 semapv:UnspecifiedMatching MONDO:0007286 cataract 30 skos:exactMatch OMIM:116300 cataract 30, multiple types semapv:UnspecifiedMatching MONDO:0007286 cataract 30 skos:exactMatch UMLS:C3805411 semapv:UnspecifiedMatching MONDO:0007286 cataract 30 skos:exactMatch mesh:C566157 semapv:UnspecifiedMatching MONDO:0007287 cataract 41 skos:exactMatch DOID:0110241 cataract 41 semapv:UnspecifiedMatching MONDO:0007287 cataract 41 skos:exactMatch OMIM:116400 cataract 41 semapv:UnspecifiedMatching MONDO:0007287 cataract 41 skos:exactMatch UMLS:C3805412 semapv:UnspecifiedMatching MONDO:0007288 cataract 6 multiple types skos:exactMatch DOID:0110229 cataract 6 multiple types semapv:UnspecifiedMatching MONDO:0007288 cataract 6 multiple types skos:exactMatch OMIM:116600 cataract 6, multiple types semapv:UnspecifiedMatching MONDO:0007289 cataract 13 with adult I phenotype skos:exactMatch DOID:0110242 cataract 13 with adult i phenotype semapv:UnspecifiedMatching MONDO:0007289 cataract 13 with adult I phenotype skos:exactMatch OMIM:116700 cataract 13 with adult i phenotype semapv:UnspecifiedMatching MONDO:0007289 cataract 13 with adult I phenotype skos:exactMatch UMLS:C3805373 semapv:UnspecifiedMatching MONDO:0007290 cataract 5 multiple types skos:exactMatch DOID:0110255 cataract 5 multiple types semapv:UnspecifiedMatching MONDO:0007290 cataract 5 multiple types skos:exactMatch OMIM:116800 cataract 5, multiple types semapv:UnspecifiedMatching MONDO:0007290 cataract 5 multiple types skos:exactMatch mesh:C535342 semapv:UnspecifiedMatching MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch DOID:0110910 leukocyte adhesion deficiency 1 semapv:UnspecifiedMatching MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch NCIT:C4689 Leukocyte Adhesion Deficiency Type 1 semapv:UnspecifiedMatching MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch OMIM:116920 leukocyte adhesion deficiency, iia 1 semapv:UnspecifiedMatching MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:UnspecifiedMatching MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch SCTID:234582006 semapv:UnspecifiedMatching MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch UMLS:C0398738 semapv:UnspecifiedMatching MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch mesh:C535887 semapv:UnspecifiedMatching MONDO:0007294 central core myopathy skos:exactMatch DOID:3529 congenital myopathy 1A semapv:UnspecifiedMatching MONDO:0007294 central core myopathy skos:exactMatch NCIT:C83010 Central Core Disease semapv:UnspecifiedMatching MONDO:0007294 central core myopathy skos:exactMatch OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia semapv:UnspecifiedMatching MONDO:0007294 central core myopathy skos:exactMatch Orphanet:597 Central core disease semapv:UnspecifiedMatching MONDO:0007294 central core myopathy skos:exactMatch SCTID:43152001 semapv:UnspecifiedMatching MONDO:0007294 central core myopathy skos:exactMatch UMLS:C0751951 semapv:UnspecifiedMatching MONDO:0007294 central core myopathy skos:exactMatch mesh:D020512 semapv:UnspecifiedMatching MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch DOID:3329 benign epilepsy with centrotemporal spikes semapv:UnspecifiedMatching MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch NCIT:C116538 Benign Rolandic Epilepsy semapv:UnspecifiedMatching MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch OMIM:117100 centralopathic epilepsy semapv:UnspecifiedMatching MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch Orphanet:1945 Rolandic epilepsy semapv:UnspecifiedMatching MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch SCTID:44145005 semapv:UnspecifiedMatching MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch UMLS:C0376532 semapv:UnspecifiedMatching MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch DOID:0050980 spinocerebellar ataxia type 31 semapv:UnspecifiedMatching MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch NCIT:C176901 Spinocerebellar Ataxia Type 31 semapv:UnspecifiedMatching MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch OMIM:117210 spinocerebellar ataxia 31 semapv:UnspecifiedMatching MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:UnspecifiedMatching MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch SCTID:715826005 semapv:UnspecifiedMatching MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch UMLS:C1861736 semapv:UnspecifiedMatching MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch mesh:C566146 semapv:UnspecifiedMatching MONDO:0007297 ADan amyloidosis skos:exactMatch DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 semapv:UnspecifiedMatching MONDO:0007297 ADan amyloidosis skos:exactMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:UnspecifiedMatching MONDO:0007297 ADan amyloidosis skos:exactMatch Orphanet:97346 ADan amyloidosis semapv:UnspecifiedMatching MONDO:0007297 ADan amyloidosis skos:exactMatch UMLS:C1861735 semapv:UnspecifiedMatching MONDO:0007297 ADan amyloidosis skos:exactMatch mesh:C538209 semapv:UnspecifiedMatching MONDO:0007298 spinocerebellar ataxia type 29 skos:exactMatch DOID:0050978 spinocerebellar ataxia type 29 semapv:UnspecifiedMatching MONDO:0007298 spinocerebellar ataxia type 29 skos:exactMatch OMIM:117360 spinocerebellar ataxia 29 semapv:UnspecifiedMatching MONDO:0007298 spinocerebellar ataxia type 29 skos:exactMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:UnspecifiedMatching MONDO:0007298 spinocerebellar ataxia type 29 skos:exactMatch SCTID:715825009 semapv:UnspecifiedMatching MONDO:0007298 spinocerebellar ataxia type 29 skos:exactMatch UMLS:C1861732 semapv:UnspecifiedMatching MONDO:0007298 spinocerebellar ataxia type 29 skos:exactMatch mesh:C537206 semapv:UnspecifiedMatching MONDO:0007300 cerebral sarcoma skos:exactMatch OMIM:117600 cerebral sarcoma semapv:UnspecifiedMatching MONDO:0007300 cerebral sarcoma skos:exactMatch UMLS:C1861714 semapv:UnspecifiedMatching MONDO:0007300 cerebral sarcoma skos:exactMatch mesh:C537946 semapv:UnspecifiedMatching MONDO:0007301 cerebrocostomandibular syndrome skos:exactMatch DOID:0111248 cerebrocostomandibular syndrome semapv:UnspecifiedMatching MONDO:0007301 cerebrocostomandibular syndrome skos:exactMatch OMIM:117650 cerebrocostomandibular syndrome semapv:UnspecifiedMatching MONDO:0007301 cerebrocostomandibular syndrome skos:exactMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:UnspecifiedMatching MONDO:0007301 cerebrocostomandibular syndrome skos:exactMatch SCTID:51780007 semapv:UnspecifiedMatching MONDO:0007301 cerebrocostomandibular syndrome skos:exactMatch UMLS:C0265342 semapv:UnspecifiedMatching MONDO:0007301 cerebrocostomandibular syndrome skos:exactMatch mesh:C562538 semapv:UnspecifiedMatching MONDO:0007302 cervical hypertrichosis with underlying kyphoscoliosis skos:exactMatch OMIM:117850 cervical hypertrichosis with underlying kyphoscoliosis semapv:UnspecifiedMatching MONDO:0007302 cervical hypertrichosis with underlying kyphoscoliosis skos:exactMatch UMLS:C1861695 semapv:UnspecifiedMatching MONDO:0007302 cervical hypertrichosis with underlying kyphoscoliosis skos:exactMatch mesh:C566142 semapv:UnspecifiedMatching MONDO:0007303 cervical rib disease skos:exactMatch NCIT:C158329 Cervical Rib semapv:UnspecifiedMatching MONDO:0007303 cervical rib disease skos:exactMatch OMIM:117900 cervical rib semapv:UnspecifiedMatching MONDO:0007303 cervical rib disease skos:exactMatch SCTID:72535009 semapv:UnspecifiedMatching MONDO:0007303 cervical rib disease skos:exactMatch mesh:D002573 semapv:UnspecifiedMatching MONDO:0007304 cervical vertebral Bridge skos:exactMatch OMIM:118000 cervical vertebral bridge semapv:UnspecifiedMatching MONDO:0007305 cervical vertebral dysplasia skos:exactMatch OMIM:118005 cervical vertebral dysplasia semapv:UnspecifiedMatching MONDO:0007305 cervical vertebral dysplasia skos:exactMatch UMLS:C1861693 semapv:UnspecifiedMatching MONDO:0007305 cervical vertebral dysplasia skos:exactMatch mesh:C566140 semapv:UnspecifiedMatching MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:exactMatch DOID:0080589 Klippel-Feil syndrome 1 semapv:UnspecifiedMatching MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:exactMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:UnspecifiedMatching MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:exactMatch UMLS:C1861689 semapv:UnspecifiedMatching MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:exactMatch mesh:C536887 semapv:UnspecifiedMatching MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:exactMatch DOID:0110152 Charcot-Marie-Tooth disease type 1B semapv:UnspecifiedMatching MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:exactMatch NCIT:C118782 Charcot-Marie-Tooth Disease Type 1B semapv:UnspecifiedMatching MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:exactMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:UnspecifiedMatching MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:exactMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:UnspecifiedMatching MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:exactMatch UMLS:C0270912 semapv:UnspecifiedMatching MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch DOID:0110154 Charcot-Marie-Tooth disease type 2A1 semapv:UnspecifiedMatching MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch NCIT:C134952 Charcot-Marie-Tooth Disease Type 2A semapv:UnspecifiedMatching MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch NCIT:C150609 Charcot-Marie-Tooth Disease Type 2A1 semapv:UnspecifiedMatching MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch OMIM:118210 charcot-marie-tooth disease, axonal, iia 2a1 semapv:UnspecifiedMatching MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 semapv:UnspecifiedMatching MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch SCTID:717016001 semapv:UnspecifiedMatching MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch mesh:C566138 semapv:UnspecifiedMatching MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:exactMatch DOID:0110148 Charcot-Marie-Tooth disease type 1A semapv:UnspecifiedMatching MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:exactMatch NCIT:C75468 Charcot-Marie-Tooth Disease Type 1A semapv:UnspecifiedMatching MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:exactMatch OMIM:118220 charcot-marie-tooth disease, demyelinating, iia 1a semapv:UnspecifiedMatching MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:exactMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:UnspecifiedMatching MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:exactMatch UMLS:C0270911 semapv:UnspecifiedMatching MONDO:0007310 Charcot-Marie-Tooth disease, Guadalajara neuronal type skos:exactMatch OMIM:118230 charcot-marie-tooth disease, guadalajara neuronal iia semapv:UnspecifiedMatching MONDO:0007310 Charcot-Marie-Tooth disease, Guadalajara neuronal type skos:exactMatch UMLS:C1861673 semapv:UnspecifiedMatching MONDO:0007310 Charcot-Marie-Tooth disease, Guadalajara neuronal type skos:exactMatch mesh:C566137 semapv:UnspecifiedMatching MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch DOID:0110153 Charcot-Marie-Tooth disease type 1E semapv:UnspecifiedMatching MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch OMIM:118300 charcot-marie-tooth disease and deafness semapv:UnspecifiedMatching MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:UnspecifiedMatching MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch UMLS:C3495591 semapv:UnspecifiedMatching MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch mesh:C537986 semapv:UnspecifiedMatching MONDO:0007312 Charcot-Marie-Tooth disease with ptosis and parkinsonism skos:exactMatch OMIM:118301 charcot-marie-tooth disease with ptosis and parkinsonism semapv:UnspecifiedMatching MONDO:0007312 Charcot-Marie-Tooth disease with ptosis and parkinsonism skos:exactMatch UMLS:C1861668 semapv:UnspecifiedMatching MONDO:0007312 Charcot-Marie-Tooth disease with ptosis and parkinsonism skos:exactMatch mesh:C538079 semapv:UnspecifiedMatching MONDO:0007313 cheilitis glandularis skos:exactMatch OMIM:118330 cheilitis glandularis semapv:UnspecifiedMatching MONDO:0007313 cheilitis glandularis skos:exactMatch Orphanet:1221 Cheilitis glandularis semapv:UnspecifiedMatching MONDO:0007313 cheilitis glandularis skos:exactMatch SCTID:26374003 semapv:UnspecifiedMatching MONDO:0007313 cheilitis glandularis skos:exactMatch UMLS:C0267034 semapv:UnspecifiedMatching MONDO:0007313 cheilitis glandularis skos:exactMatch mesh:C535921 semapv:UnspecifiedMatching MONDO:0007314 chemodectoma, intraabdominal, with cutaneous angiolipomas skos:exactMatch OMIM:118350 chemodectoma, intraabdominal, with cutaneous angiolipomas semapv:UnspecifiedMatching MONDO:0007314 chemodectoma, intraabdominal, with cutaneous angiolipomas skos:exactMatch UMLS:C2930928 semapv:UnspecifiedMatching MONDO:0007314 chemodectoma, intraabdominal, with cutaneous angiolipomas skos:exactMatch mesh:C535552 semapv:UnspecifiedMatching MONDO:0007315 cherubism skos:exactMatch DOID:1856 cherubism semapv:UnspecifiedMatching MONDO:0007315 cherubism skos:exactMatch NCIT:C84630 Cherubism semapv:UnspecifiedMatching MONDO:0007315 cherubism skos:exactMatch OMIM:118400 cherubism semapv:UnspecifiedMatching MONDO:0007315 cherubism skos:exactMatch Orphanet:184 Cherubism semapv:UnspecifiedMatching MONDO:0007315 cherubism skos:exactMatch SCTID:76098004 semapv:UnspecifiedMatching MONDO:0007315 cherubism skos:exactMatch UMLS:C0008029 semapv:UnspecifiedMatching MONDO:0007315 cherubism skos:exactMatch mesh:D002636 semapv:UnspecifiedMatching MONDO:0007316 Chiari malformation type I skos:exactMatch OMIM:118420 chiari malformation iia 1 semapv:UnspecifiedMatching MONDO:0007316 Chiari malformation type I skos:exactMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:UnspecifiedMatching MONDO:0007316 Chiari malformation type I skos:exactMatch SCTID:253185002 semapv:UnspecifiedMatching MONDO:0007317 obsolete chlorpropamide-alcohol flushing skos:exactMatch OMIM:118430 chlorpropamide-alcohol flushing semapv:UnspecifiedMatching MONDO:0007317 obsolete chlorpropamide-alcohol flushing skos:exactMatch UMLS:C1861630 semapv:UnspecifiedMatching MONDO:0007318 Alagille syndrome skos:exactMatch DOID:9245 Alagille syndrome semapv:UnspecifiedMatching MONDO:0007318 Alagille syndrome skos:exactMatch NCIT:C35139 Alagille Syndrome semapv:UnspecifiedMatching MONDO:0007318 Alagille syndrome skos:exactMatch OMIMPS:118450 semapv:UnspecifiedMatching MONDO:0007318 Alagille syndrome skos:exactMatch Orphanet:52 Alagille syndrome semapv:UnspecifiedMatching MONDO:0007318 Alagille syndrome skos:exactMatch SCTID:31742004 semapv:UnspecifiedMatching MONDO:0007318 Alagille syndrome skos:exactMatch UMLS:C0085280 semapv:UnspecifiedMatching MONDO:0007318 Alagille syndrome skos:exactMatch mesh:D016738 semapv:UnspecifiedMatching MONDO:0007319 chondrocalcinosis 2 skos:exactMatch OMIM:118600 chondrocalcinosis 2 semapv:UnspecifiedMatching MONDO:0007319 chondrocalcinosis 2 skos:exactMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:UnspecifiedMatching MONDO:0007319 chondrocalcinosis 2 skos:exactMatch UMLS:C0856830 semapv:UnspecifiedMatching MONDO:0007319 chondrocalcinosis 2 skos:exactMatch mesh:C563162 semapv:UnspecifiedMatching MONDO:0007320 chondrocalcinosis due to apatite crystal deposition skos:exactMatch OMIM:118610 chondrocalcinosis due to apatite crystal deposition semapv:UnspecifiedMatching MONDO:0007320 chondrocalcinosis due to apatite crystal deposition skos:exactMatch UMLS:C1861580 semapv:UnspecifiedMatching MONDO:0007320 chondrocalcinosis due to apatite crystal deposition skos:exactMatch mesh:C535939 semapv:UnspecifiedMatching MONDO:0007321 autosomal dominant chondrodysplasia punctata skos:exactMatch DOID:0060293 autosomal dominant chondrodysplasia punctata semapv:UnspecifiedMatching MONDO:0007321 autosomal dominant chondrodysplasia punctata skos:exactMatch OMIM:118650 chondrodysplasia punctata, autosomal dominant semapv:UnspecifiedMatching MONDO:0007321 autosomal dominant chondrodysplasia punctata skos:exactMatch mesh:C563248 semapv:UnspecifiedMatching MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch OMIM:118651 chondrodysplasia punctata, tibia-metacarpal iia semapv:UnspecifiedMatching MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type semapv:UnspecifiedMatching MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch SCTID:254083002 semapv:UnspecifiedMatching MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch mesh:C562961 semapv:UnspecifiedMatching MONDO:0007323 Chondronectin skos:exactMatch OMIM:118670 chondronectin semapv:UnspecifiedMatching MONDO:0007325 choreoathetosis, familial inverted skos:exactMatch OMIM:118750 choreoathetosis, familial inverted semapv:UnspecifiedMatching MONDO:0007325 choreoathetosis, familial inverted skos:exactMatch UMLS:C1861569 semapv:UnspecifiedMatching MONDO:0007325 choreoathetosis, familial inverted skos:exactMatch mesh:C566127 semapv:UnspecifiedMatching MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase skos:exactMatch DOID:0111419 familial chylomicronemia due to inhibition of lipoprotein lipase activity semapv:UnspecifiedMatching MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase skos:exactMatch OMIM:118830 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase semapv:UnspecifiedMatching MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase skos:exactMatch UMLS:C1861560 semapv:UnspecifiedMatching MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase skos:exactMatch mesh:C566126 semapv:UnspecifiedMatching MONDO:0007328 choroidal osteoma, bilateral skos:exactMatch OMIM:118865 choroidal osteoma, bilateral semapv:UnspecifiedMatching MONDO:0007328 choroidal osteoma, bilateral skos:exactMatch UMLS:C1861558 semapv:UnspecifiedMatching MONDO:0007328 choroidal osteoma, bilateral skos:exactMatch mesh:C566124 semapv:UnspecifiedMatching MONDO:0007329 cirrhosis, familial skos:exactMatch NCIT:C84411 Cryptogenic Cirrhosis semapv:UnspecifiedMatching MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:215600 cirrhosis, familial semapv:UnspecifiedMatching MONDO:0007329 cirrhosis, familial skos:exactMatch SCTID:6183001 semapv:UnspecifiedMatching MONDO:0007329 cirrhosis, familial skos:exactMatch mesh:C566123 semapv:UnspecifiedMatching MONDO:0007330 congenital pseudoarthrosis of clavicle skos:exactMatch OMIM:118980 clavicle, pseudarthrosis of, congenital semapv:UnspecifiedMatching MONDO:0007330 congenital pseudoarthrosis of clavicle skos:exactMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:UnspecifiedMatching MONDO:0007330 congenital pseudoarthrosis of clavicle skos:exactMatch SCTID:70794004 semapv:UnspecifiedMatching MONDO:0007330 congenital pseudoarthrosis of clavicle skos:exactMatch mesh:C562548 semapv:UnspecifiedMatching MONDO:0007331 obsolete cleft chin skos:exactMatch OMIM:119000 cleft chin semapv:UnspecifiedMatching MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:exactMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:UnspecifiedMatching MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:exactMatch mesh:C536425 semapv:UnspecifiedMatching MONDO:0007333 van der Woude syndrome 1 skos:exactMatch OMIM:119300 van der woude syndrome 1 semapv:UnspecifiedMatching MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:exactMatch OMIM:119500 popliteal pterygium syndrome semapv:UnspecifiedMatching MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:exactMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:UnspecifiedMatching MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:exactMatch SCTID:718222000 semapv:UnspecifiedMatching MONDO:0007335 orofacial cleft 1 skos:exactMatch DOID:0080395 orofacial cleft 1 semapv:UnspecifiedMatching MONDO:0007335 orofacial cleft 1 skos:exactMatch NCIT:C124838 Orofacial Cleft 1 semapv:UnspecifiedMatching MONDO:0007335 orofacial cleft 1 skos:exactMatch OMIM:119530 orofacial cleft 1 semapv:UnspecifiedMatching MONDO:0007335 orofacial cleft 1 skos:exactMatch UMLS:C1861537 semapv:UnspecifiedMatching MONDO:0007335 orofacial cleft 1 skos:exactMatch mesh:C566121 semapv:UnspecifiedMatching MONDO:0007336 isolated cleft palate skos:exactMatch DOID:0110213 isolated cleft palate semapv:UnspecifiedMatching MONDO:0007336 isolated cleft palate skos:exactMatch OMIM:119540 cleft palate, isolated semapv:UnspecifiedMatching MONDO:0007336 isolated cleft palate skos:exactMatch UMLS:C1837218 semapv:UnspecifiedMatching MONDO:0007337 cleft palate-lateral synechia syndrome skos:exactMatch DOID:0080313 cleft palate-lateral synechia syndrome semapv:UnspecifiedMatching MONDO:0007337 cleft palate-lateral synechia syndrome skos:exactMatch OMIM:119550 syngnathia semapv:UnspecifiedMatching MONDO:0007337 cleft palate-lateral synechia syndrome skos:exactMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:UnspecifiedMatching MONDO:0007337 cleft palate-lateral synechia syndrome skos:exactMatch SCTID:403772000 semapv:UnspecifiedMatching MONDO:0007337 cleft palate-lateral synechia syndrome skos:exactMatch UMLS:C0795898 semapv:UnspecifiedMatching MONDO:0007337 cleft palate-lateral synechia syndrome skos:exactMatch mesh:C563047 semapv:UnspecifiedMatching MONDO:0007338 cleft soft palate skos:exactMatch DOID:0110214 cleft soft palate semapv:UnspecifiedMatching MONDO:0007338 cleft soft palate skos:exactMatch ICD10CM:Q35.3 Cleft soft palate semapv:UnspecifiedMatching MONDO:0007338 cleft soft palate skos:exactMatch OMIM:119570 cleft soft palate semapv:UnspecifiedMatching MONDO:0007338 cleft soft palate skos:exactMatch Orphanet:99772 Cleft velum semapv:UnspecifiedMatching MONDO:0007338 cleft soft palate skos:exactMatch SCTID:253997002 semapv:UnspecifiedMatching MONDO:0007338 cleft soft palate skos:exactMatch mesh:C562950 semapv:UnspecifiedMatching MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch DOID:0080344 blepharocheilodontic syndrome semapv:UnspecifiedMatching MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch OMIMPS:119580 semapv:UnspecifiedMatching MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:UnspecifiedMatching MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch SCTID:717911008 semapv:UnspecifiedMatching MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch UMLS:C1861536 semapv:UnspecifiedMatching MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch mesh:C536188 semapv:UnspecifiedMatching MONDO:0007340 cleidocranial dysplasia 1 skos:exactMatch DOID:13994 cleidocranial dysplasia semapv:UnspecifiedMatching MONDO:0007340 cleidocranial dysplasia 1 skos:exactMatch NCIT:C75020 Cleidocranial Dysplasia semapv:UnspecifiedMatching MONDO:0007340 cleidocranial dysplasia 1 skos:exactMatch OMIM:119600 cleidocranial dysplasia 1 semapv:UnspecifiedMatching MONDO:0007340 cleidocranial dysplasia 1 skos:exactMatch Orphanet:1452 Cleidocranial dysplasia semapv:UnspecifiedMatching MONDO:0007340 cleidocranial dysplasia 1 skos:exactMatch SCTID:65976001 semapv:UnspecifiedMatching MONDO:0007340 cleidocranial dysplasia 1 skos:exactMatch UMLS:C0008928 semapv:UnspecifiedMatching MONDO:0007340 cleidocranial dysplasia 1 skos:exactMatch mesh:D002973 semapv:UnspecifiedMatching MONDO:0007341 cleidorhizomelic syndrome skos:exactMatch OMIM:119650 cleidorhizomelic syndrome semapv:UnspecifiedMatching MONDO:0007341 cleidorhizomelic syndrome skos:exactMatch Orphanet:1453 Cleidorhizomelic syndrome semapv:UnspecifiedMatching MONDO:0007341 cleidorhizomelic syndrome skos:exactMatch SCTID:719471002 semapv:UnspecifiedMatching MONDO:0007341 cleidorhizomelic syndrome skos:exactMatch UMLS:C1861515 semapv:UnspecifiedMatching MONDO:0007341 cleidorhizomelic syndrome skos:exactMatch mesh:C536428 semapv:UnspecifiedMatching MONDO:0007342 clubfoot skos:exactMatch DOID:11836 clubfoot semapv:UnspecifiedMatching MONDO:0007342 clubfoot skos:exactMatch NCIT:C84641 Clubfoot semapv:UnspecifiedMatching MONDO:0007342 clubfoot skos:exactMatch OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly semapv:UnspecifiedMatching MONDO:0007342 clubfoot skos:exactMatch SCTID:397932003 semapv:UnspecifiedMatching MONDO:0007342 clubfoot skos:exactMatch mesh:D003025 semapv:UnspecifiedMatching MONDO:0007343 isolated congenital digital clubbing skos:exactMatch OMIM:119900 digital clubbing, isolated congenital semapv:UnspecifiedMatching MONDO:0007343 isolated congenital digital clubbing skos:exactMatch Orphanet:217059 Isolated congenital digital clubbing semapv:UnspecifiedMatching MONDO:0007344 cluster headache, familial skos:exactMatch OMIM:119915 cluster headache, familial semapv:UnspecifiedMatching MONDO:0007344 cluster headache, familial skos:exactMatch UMLS:C1861513 semapv:UnspecifiedMatching MONDO:0007344 cluster headache, familial skos:exactMatch mesh:C566117 semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation skos:exactMatch ICD10CM:Q25.1 Coarctation of aorta semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation skos:exactMatch NCIT:C84567 Aortic Coarctation semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation skos:exactMatch OMIM:120000 coarctation of aorta semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation skos:exactMatch Orphanet:1457 Aorta coarctation semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation skos:exactMatch SCTID:7305005 semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation skos:exactMatch UMLS:C0003492 semapv:UnspecifiedMatching MONDO:0007345 aorta coarctation skos:exactMatch mesh:D001017 semapv:UnspecifiedMatching MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:exactMatch OMIM:120040 cochleosaccular degeneration with progressive cataracts semapv:UnspecifiedMatching MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:exactMatch Orphanet:3233 Cochleosaccular degeneration-cataract syndrome semapv:UnspecifiedMatching MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:exactMatch SCTID:715528001 semapv:UnspecifiedMatching MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:exactMatch UMLS:C1861512 semapv:UnspecifiedMatching MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:exactMatch mesh:C536432 semapv:UnspecifiedMatching MONDO:0007347 obsolete Coxsackievirus B3 susceptibility skos:exactMatch OMIM:120050 coxsackievirus b3 susceptibility semapv:UnspecifiedMatching MONDO:0007347 obsolete Coxsackievirus B3 susceptibility skos:exactMatch UMLS:C1861511 semapv:UnspecifiedMatching MONDO:0007348 obsolete colchicine resistance skos:exactMatch OMIM:120080 colchicine resistance semapv:UnspecifiedMatching MONDO:0007348 obsolete colchicine resistance skos:exactMatch UMLS:C1861502 semapv:UnspecifiedMatching MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:exactMatch DOID:0090062 familial cold autoinflammatory syndrome 1 semapv:UnspecifiedMatching MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:exactMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:UnspecifiedMatching MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:exactMatch SCTID:238687000 semapv:UnspecifiedMatching MONDO:0007350 coloboma, ocular, autosomal dominant skos:exactMatch OMIM:120200 coloboma, ocular, autosomal dominant semapv:UnspecifiedMatching MONDO:0007351 coloboma of macula skos:exactMatch OMIM:120300 coloboma of macula semapv:UnspecifiedMatching MONDO:0007351 coloboma of macula skos:exactMatch Orphanet:98945 Coloboma of macula semapv:UnspecifiedMatching MONDO:0007352 renal coloboma syndrome skos:exactMatch DOID:0090006 renal coloboma syndrome semapv:UnspecifiedMatching MONDO:0007352 renal coloboma syndrome skos:exactMatch NCIT:C123230 Renal Coloboma Syndrome semapv:UnspecifiedMatching MONDO:0007352 renal coloboma syndrome skos:exactMatch OMIM:120330 papillorenal syndrome semapv:UnspecifiedMatching MONDO:0007352 renal coloboma syndrome skos:exactMatch Orphanet:1475 Renal coloboma syndrome semapv:UnspecifiedMatching MONDO:0007352 renal coloboma syndrome skos:exactMatch SCTID:446449009 semapv:UnspecifiedMatching MONDO:0007352 renal coloboma syndrome skos:exactMatch UMLS:C1852759 semapv:UnspecifiedMatching MONDO:0007352 renal coloboma syndrome skos:exactMatch mesh:C537168 semapv:UnspecifiedMatching MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:exactMatch OMIM:120400 coloboma of macula with iia B brachydactyly semapv:UnspecifiedMatching MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:exactMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:UnspecifiedMatching MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:exactMatch SCTID:717785002 semapv:UnspecifiedMatching MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:exactMatch UMLS:C1852752 semapv:UnspecifiedMatching MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:exactMatch mesh:C535969 semapv:UnspecifiedMatching MONDO:0007354 coloboma of optic nerve skos:exactMatch DOID:11975 coloboma of optic nerve semapv:UnspecifiedMatching MONDO:0007354 coloboma of optic nerve skos:exactMatch OMIM:120430 coloboma of optic nerve semapv:UnspecifiedMatching MONDO:0007354 coloboma of optic nerve skos:exactMatch Orphanet:98947 Coloboma of optic disc semapv:UnspecifiedMatching MONDO:0007354 coloboma of optic nerve skos:exactMatch SCTID:17541006 semapv:UnspecifiedMatching MONDO:0007354 coloboma of optic nerve skos:exactMatch mesh:C535970 semapv:UnspecifiedMatching MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:exactMatch DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability semapv:UnspecifiedMatching MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:exactMatch OMIM:120433 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development semapv:UnspecifiedMatching MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:exactMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:UnspecifiedMatching MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:exactMatch UMLS:C3805432 semapv:UnspecifiedMatching MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:exactMatch mesh:C535971 semapv:UnspecifiedMatching MONDO:0007356 Lynch syndrome 1 skos:exactMatch DOID:0070271 Lynch syndrome 1 semapv:UnspecifiedMatching MONDO:0007356 Lynch syndrome 1 skos:exactMatch NCIT:C6725 Lynch 1 Syndrome semapv:UnspecifiedMatching MONDO:0007356 Lynch syndrome 1 skos:exactMatch OMIM:120435 lynch syndrome 1 semapv:UnspecifiedMatching MONDO:0007356 Lynch syndrome 1 skos:exactMatch mesh:C537261 semapv:UnspecifiedMatching MONDO:0007357 colonic varices without portal hypertension skos:exactMatch OMIM:120440 colonic varices without portal hypertension semapv:UnspecifiedMatching MONDO:0007357 colonic varices without portal hypertension skos:exactMatch UMLS:C1852721 semapv:UnspecifiedMatching MONDO:0007357 colonic varices without portal hypertension skos:exactMatch mesh:C565172 semapv:UnspecifiedMatching MONDO:0007358 comedones, familial Dyskeratotic skos:exactMatch OMIM:120450 comedones, familial dyskeratotic semapv:UnspecifiedMatching MONDO:0007358 comedones, familial Dyskeratotic skos:exactMatch SCTID:254219004 semapv:UnspecifiedMatching MONDO:0007358 comedones, familial Dyskeratotic skos:exactMatch UMLS:C0345424 semapv:UnspecifiedMatching MONDO:0007358 comedones, familial Dyskeratotic skos:exactMatch mesh:C562838 semapv:UnspecifiedMatching MONDO:0007359 commissural lip pits skos:exactMatch OMIM:120500 commissural 51p pits semapv:UnspecifiedMatching MONDO:0007359 commissural lip pits skos:exactMatch SCTID:109550008 semapv:UnspecifiedMatching MONDO:0007360 branchiootic syndrome 2 skos:exactMatch OMIM:120502 branchiootic syndrome 2 semapv:UnspecifiedMatching MONDO:0007360 branchiootic syndrome 2 skos:exactMatch UMLS:C1852718 semapv:UnspecifiedMatching MONDO:0007360 branchiootic syndrome 2 skos:exactMatch mesh:C565171 semapv:UnspecifiedMatching MONDO:0007361 C1 inhibitor deficiency skos:exactMatch DOID:0060002 C1 inhibitor deficiency semapv:UnspecifiedMatching MONDO:0007361 C1 inhibitor deficiency skos:exactMatch OMIM:120790 complement component 4, partial deficiency of semapv:UnspecifiedMatching MONDO:0007361 C1 inhibitor deficiency skos:exactMatch UMLS:C1852700 semapv:UnspecifiedMatching MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch DOID:0111005 cone-rod dystrophy 2 semapv:UnspecifiedMatching MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch NCIT:C162399 Cone-Rod Dystrophy 2 semapv:UnspecifiedMatching MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch OMIM:120970 cone-rod dystrophy 2 semapv:UnspecifiedMatching MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch SCTID:80328002 semapv:UnspecifiedMatching MONDO:0007362 cone-rod dystrophy 2 skos:exactMatch UMLS:C3489532 semapv:UnspecifiedMatching MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch DOID:0111595 congenital contractural arachnodactyly semapv:UnspecifiedMatching MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch NCIT:C129865 Congenital Contractural Arachnodactyly semapv:UnspecifiedMatching MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch OMIM:121050 contractural arachnodactyly, congenital semapv:UnspecifiedMatching MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch Orphanet:115 Congenital contractural arachnodactyly semapv:UnspecifiedMatching MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch SCTID:205821003 semapv:UnspecifiedMatching MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch UMLS:C0220668 semapv:UnspecifiedMatching MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch mesh:C536211 semapv:UnspecifiedMatching MONDO:0007364 arthrogryposis, distal, type 2E skos:exactMatch OMIM:121070 arthrogryposis, distal, iia 2e semapv:UnspecifiedMatching MONDO:0007364 arthrogryposis, distal, type 2E skos:exactMatch UMLS:C1852597 semapv:UnspecifiedMatching MONDO:0007364 arthrogryposis, distal, type 2E skos:exactMatch mesh:C535384 semapv:UnspecifiedMatching MONDO:0007365 seizures, benign familial neonatal, 1 skos:exactMatch OMIM:121200 seizures, benign familial neonatal, 1 semapv:UnspecifiedMatching MONDO:0007365 seizures, benign familial neonatal, 1 skos:exactMatch UMLS:C3149074 semapv:UnspecifiedMatching MONDO:0007365 seizures, benign familial neonatal, 1 skos:exactMatch mesh:C567743 semapv:UnspecifiedMatching MONDO:0007366 seizures, benign familial neonatal, 2 skos:exactMatch OMIM:121201 seizures, benign familial neonatal, 2 semapv:UnspecifiedMatching MONDO:0007366 seizures, benign familial neonatal, 2 skos:exactMatch UMLS:C1852581 semapv:UnspecifiedMatching MONDO:0007367 febrile seizures, familial, 1 skos:exactMatch DOID:0111307 familial febrile seizures 1 semapv:UnspecifiedMatching MONDO:0007367 febrile seizures, familial, 1 skos:exactMatch OMIM:121210 febrile seizures, familial, 1 semapv:UnspecifiedMatching MONDO:0007367 febrile seizures, familial, 1 skos:exactMatch SCTID:230432008 semapv:UnspecifiedMatching MONDO:0007367 febrile seizures, familial, 1 skos:exactMatch UMLS:C1852577 semapv:UnspecifiedMatching MONDO:0007367 febrile seizures, familial, 1 skos:exactMatch mesh:C565162 semapv:UnspecifiedMatching MONDO:0007368 familial benign copper deficiency skos:exactMatch OMIM:121270 copper deficiency, familial benign semapv:UnspecifiedMatching MONDO:0007368 familial benign copper deficiency skos:exactMatch Orphanet:1551 Familial benign copper deficiency semapv:UnspecifiedMatching MONDO:0007368 familial benign copper deficiency skos:exactMatch SCTID:763531001 semapv:UnspecifiedMatching MONDO:0007368 familial benign copper deficiency skos:exactMatch UMLS:C1852576 semapv:UnspecifiedMatching MONDO:0007368 familial benign copper deficiency skos:exactMatch mesh:C535468 semapv:UnspecifiedMatching MONDO:0007369 hereditary coproporphyria skos:exactMatch DOID:13269 hereditary coproporphyria semapv:UnspecifiedMatching MONDO:0007369 hereditary coproporphyria skos:exactMatch NCIT:C84759 Hereditary Coproporphyria semapv:UnspecifiedMatching MONDO:0007369 hereditary coproporphyria skos:exactMatch OMIM:121300 coproporphyria, hereditary semapv:UnspecifiedMatching MONDO:0007369 hereditary coproporphyria skos:exactMatch Orphanet:79273 Hereditary coproporphyria semapv:UnspecifiedMatching MONDO:0007369 hereditary coproporphyria skos:exactMatch SCTID:7425008 semapv:UnspecifiedMatching MONDO:0007369 hereditary coproporphyria skos:exactMatch UMLS:C0162531 semapv:UnspecifiedMatching MONDO:0007369 hereditary coproporphyria skos:exactMatch mesh:D046349 semapv:UnspecifiedMatching MONDO:0007370 coracoclavicular joint, anomalous skos:exactMatch OMIM:121350 coracoclavicular joint, anomalous semapv:UnspecifiedMatching MONDO:0007370 coracoclavicular joint, anomalous skos:exactMatch mesh:C565161 semapv:UnspecifiedMatching MONDO:0007371 cornea guttata with anterior polar cataracts skos:exactMatch OMIM:121390 cornea guttata with anterior polar cataracts semapv:UnspecifiedMatching MONDO:0007371 cornea guttata with anterior polar cataracts skos:exactMatch UMLS:C1852558 semapv:UnspecifiedMatching MONDO:0007371 cornea guttata with anterior polar cataracts skos:exactMatch mesh:C535471 semapv:UnspecifiedMatching MONDO:0007372 cornea plana 1, autosomal dominant skos:exactMatch OMIM:121400 cornea plana 1, autosomal dominant semapv:UnspecifiedMatching MONDO:0007372 cornea plana 1, autosomal dominant skos:exactMatch UMLS:C1852557 semapv:UnspecifiedMatching MONDO:0007372 cornea plana 1, autosomal dominant skos:exactMatch mesh:C565158 semapv:UnspecifiedMatching MONDO:0007373 corneal degeneration, ribbonlike, with deafness skos:exactMatch OMIM:121450 corneal degeneration, ribbonlike, with deafness semapv:UnspecifiedMatching MONDO:0007373 corneal degeneration, ribbonlike, with deafness skos:exactMatch UMLS:C1852556 semapv:UnspecifiedMatching MONDO:0007373 corneal degeneration, ribbonlike, with deafness skos:exactMatch mesh:C565157 semapv:UnspecifiedMatching MONDO:0007374 Schnyder corneal dystrophy skos:exactMatch DOID:0060456 Schnyder corneal dystrophy semapv:UnspecifiedMatching MONDO:0007374 Schnyder corneal dystrophy skos:exactMatch OMIM:121800 schnyder corneal dystrophy semapv:UnspecifiedMatching MONDO:0007374 Schnyder corneal dystrophy skos:exactMatch Orphanet:98967 Schnyder corneal dystrophy semapv:UnspecifiedMatching MONDO:0007374 Schnyder corneal dystrophy skos:exactMatch SCTID:419395007 semapv:UnspecifiedMatching MONDO:0007374 Schnyder corneal dystrophy skos:exactMatch mesh:C535475 semapv:UnspecifiedMatching MONDO:0007375 epithelial basement membrane dystrophy skos:exactMatch DOID:0060447 epithelial basement membrane dystrophy semapv:UnspecifiedMatching MONDO:0007375 epithelial basement membrane dystrophy skos:exactMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:UnspecifiedMatching MONDO:0007375 epithelial basement membrane dystrophy skos:exactMatch Orphanet:98956 Epithelial basement membrane dystrophy semapv:UnspecifiedMatching MONDO:0007375 epithelial basement membrane dystrophy skos:exactMatch SCTID:373426005 semapv:UnspecifiedMatching MONDO:0007375 epithelial basement membrane dystrophy skos:exactMatch mesh:C535477 semapv:UnspecifiedMatching MONDO:0007376 fleck corneal dystrophy skos:exactMatch DOID:0060448 Fleck corneal dystrophy semapv:UnspecifiedMatching MONDO:0007376 fleck corneal dystrophy skos:exactMatch OMIM:121850 corneal dystrophy, fleck semapv:UnspecifiedMatching MONDO:0007376 fleck corneal dystrophy skos:exactMatch Orphanet:98970 Fleck corneal dystrophy semapv:UnspecifiedMatching MONDO:0007376 fleck corneal dystrophy skos:exactMatch SCTID:417183007 semapv:UnspecifiedMatching MONDO:0007376 fleck corneal dystrophy skos:exactMatch UMLS:C1562113 semapv:UnspecifiedMatching MONDO:0007376 fleck corneal dystrophy skos:exactMatch mesh:C563256 semapv:UnspecifiedMatching MONDO:0007377 granular corneal dystrophy type I skos:exactMatch DOID:0080530 granular corneal dystrophy 1 semapv:UnspecifiedMatching MONDO:0007377 granular corneal dystrophy type I skos:exactMatch OMIM:121900 corneal dystrophy, groenouw iia 1 semapv:UnspecifiedMatching MONDO:0007377 granular corneal dystrophy type I skos:exactMatch Orphanet:98962 Granular corneal dystrophy type I semapv:UnspecifiedMatching MONDO:0007377 granular corneal dystrophy type I skos:exactMatch SCTID:419039007 semapv:UnspecifiedMatching MONDO:0007377 granular corneal dystrophy type I skos:exactMatch UMLS:C1641846 semapv:UnspecifiedMatching MONDO:0007377 granular corneal dystrophy type I skos:exactMatch mesh:C537304 semapv:UnspecifiedMatching MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch DOID:0110855 posterior polymorphous corneal dystrophy 1 semapv:UnspecifiedMatching MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:UnspecifiedMatching MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch SCTID:29504002 semapv:UnspecifiedMatching MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch UMLS:C1852555 semapv:UnspecifiedMatching MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch DOID:0060451 Meesmann corneal dystrophy semapv:UnspecifiedMatching MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch NCIT:C84795 Meesmann Corneal Dystrophy semapv:UnspecifiedMatching MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch OMIMPS:122100 semapv:UnspecifiedMatching MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch Orphanet:98954 Meesmann corneal dystrophy semapv:UnspecifiedMatching MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch SCTID:1674008 semapv:UnspecifiedMatching MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch UMLS:C0339277 semapv:UnspecifiedMatching MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch mesh:D053559 semapv:UnspecifiedMatching MONDO:0007380 lattice corneal dystrophy type I skos:exactMatch OMIM:122200 corneal dystrophy, lattice iia 1 semapv:UnspecifiedMatching MONDO:0007380 lattice corneal dystrophy type I skos:exactMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:UnspecifiedMatching MONDO:0007380 lattice corneal dystrophy type I skos:exactMatch SCTID:419197009 semapv:UnspecifiedMatching MONDO:0007380 lattice corneal dystrophy type I skos:exactMatch UMLS:C1690006 semapv:UnspecifiedMatching MONDO:0007380 lattice corneal dystrophy type I skos:exactMatch mesh:C537881 semapv:UnspecifiedMatching MONDO:0007381 epithelial recurrent erosion dystrophy skos:exactMatch DOID:0070337 epithelial recurrent erosion dystrophy semapv:UnspecifiedMatching MONDO:0007381 epithelial recurrent erosion dystrophy skos:exactMatch OMIM:122400 epithelial recurrent erosion dystrophy semapv:UnspecifiedMatching MONDO:0007381 epithelial recurrent erosion dystrophy skos:exactMatch Orphanet:293381 Epithelial recurrent erosion dystrophy semapv:UnspecifiedMatching MONDO:0007381 epithelial recurrent erosion dystrophy skos:exactMatch SCTID:715908008 semapv:UnspecifiedMatching MONDO:0007381 epithelial recurrent erosion dystrophy skos:exactMatch UMLS:C1852551 semapv:UnspecifiedMatching MONDO:0007381 epithelial recurrent erosion dystrophy skos:exactMatch mesh:C565155 semapv:UnspecifiedMatching MONDO:0007382 Ramos-Arroyo syndrome skos:exactMatch OMIM:122430 corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation semapv:UnspecifiedMatching MONDO:0007382 Ramos-Arroyo syndrome skos:exactMatch Orphanet:1051 Ramos-Arroyo syndrome semapv:UnspecifiedMatching MONDO:0007382 Ramos-Arroyo syndrome skos:exactMatch UMLS:C2930866 semapv:UnspecifiedMatching MONDO:0007382 Ramos-Arroyo syndrome skos:exactMatch mesh:C535286 semapv:UnspecifiedMatching MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:exactMatch OMIM:122440 corneodermatoosseous syndrome semapv:UnspecifiedMatching MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:exactMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:UnspecifiedMatching MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:exactMatch SCTID:723584003 semapv:UnspecifiedMatching MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:exactMatch mesh:C537488 semapv:UnspecifiedMatching MONDO:0007384 congenital trigeminal anesthesia skos:exactMatch OMIM:122450 corneal hypesthesia, familial semapv:UnspecifiedMatching MONDO:0007384 congenital trigeminal anesthesia skos:exactMatch Orphanet:231013 Congenital trigeminal anesthesia semapv:UnspecifiedMatching MONDO:0007384 congenital trigeminal anesthesia skos:exactMatch SCTID:763218005 semapv:UnspecifiedMatching MONDO:0007384 congenital trigeminal anesthesia skos:exactMatch UMLS:C1852541 semapv:UnspecifiedMatching MONDO:0007384 congenital trigeminal anesthesia skos:exactMatch mesh:C536440 semapv:UnspecifiedMatching MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:exactMatch OMIM:122455 coronary artery dissection, spontaneous semapv:UnspecifiedMatching MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:exactMatch Orphanet:458718 Idiopathic spontaneous coronary artery dissection semapv:UnspecifiedMatching MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:exactMatch UMLS:C1852540 semapv:UnspecifiedMatching MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:exactMatch mesh:C565153 semapv:UnspecifiedMatching MONDO:0007386 obsolete human coronavirus sensitivity skos:exactMatch OMIM:122460 human coronavirus sensitivity semapv:UnspecifiedMatching MONDO:0007387 Cornelia de Lange syndrome 1 skos:exactMatch DOID:0080505 Cornelia de Lange syndrome 1 semapv:UnspecifiedMatching MONDO:0007387 Cornelia de Lange syndrome 1 skos:exactMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:UnspecifiedMatching MONDO:0007387 Cornelia de Lange syndrome 1 skos:exactMatch SCTID:40354009 semapv:UnspecifiedMatching MONDO:0007387 Cornelia de Lange syndrome 1 skos:exactMatch UMLS:C4551851 semapv:UnspecifiedMatching MONDO:0007388 congenitally short costocoracoid ligament skos:exactMatch OMIM:122580 costocoracoid ligament, congenitally short semapv:UnspecifiedMatching MONDO:0007388 congenitally short costocoracoid ligament skos:exactMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:UnspecifiedMatching MONDO:0007388 congenitally short costocoracoid ligament skos:exactMatch SCTID:725101002 semapv:UnspecifiedMatching MONDO:0007388 congenitally short costocoracoid ligament skos:exactMatch mesh:C536448 semapv:UnspecifiedMatching MONDO:0007389 spondylocostal dysostosis 5 skos:exactMatch DOID:0112363 spondylocostal dysostosis 5 semapv:UnspecifiedMatching MONDO:0007389 spondylocostal dysostosis 5 skos:exactMatch OMIM:122600 spondylocostal dysostosis 5 semapv:UnspecifiedMatching MONDO:0007389 spondylocostal dysostosis 5 skos:exactMatch UMLS:C4083048 semapv:UnspecifiedMatching MONDO:0007390 coumarin resistance skos:exactMatch DOID:0080665 warfarin resistance semapv:UnspecifiedMatching MONDO:0007390 coumarin resistance skos:exactMatch OMIM:122700 coumarin resistance semapv:UnspecifiedMatching MONDO:0007390 coumarin resistance skos:exactMatch SCTID:726543008 semapv:UnspecifiedMatching MONDO:0007390 coumarin resistance skos:exactMatch UMLS:C0750384 semapv:UnspecifiedMatching MONDO:0007390 coumarin resistance skos:exactMatch mesh:C563039 semapv:UnspecifiedMatching MONDO:0007391 coxa vara skos:exactMatch OMIM:122750 coxa vara semapv:UnspecifiedMatching MONDO:0007391 coxa vara skos:exactMatch mesh:D060905 semapv:UnspecifiedMatching MONDO:0007392 coxoauricular syndrome skos:exactMatch OMIM:122780 coxoauricular syndrome semapv:UnspecifiedMatching MONDO:0007392 coxoauricular syndrome skos:exactMatch Orphanet:1508 Coxoauricular syndrome semapv:UnspecifiedMatching MONDO:0007392 coxoauricular syndrome skos:exactMatch SCTID:732248005 semapv:UnspecifiedMatching MONDO:0007392 coxoauricular syndrome skos:exactMatch UMLS:C1852513 semapv:UnspecifiedMatching MONDO:0007392 coxoauricular syndrome skos:exactMatch mesh:C565148 semapv:UnspecifiedMatching MONDO:0007393 cranioacrofacial syndrome skos:exactMatch OMIM:122850 cranioacrofacial syndrome semapv:UnspecifiedMatching MONDO:0007393 cranioacrofacial syndrome skos:exactMatch UMLS:C1852512 semapv:UnspecifiedMatching MONDO:0007393 cranioacrofacial syndrome skos:exactMatch mesh:C565147 semapv:UnspecifiedMatching MONDO:0007395 craniofacial-deafness-hand syndrome skos:exactMatch DOID:0111336 craniofacial-deafness-hand syndrome semapv:UnspecifiedMatching MONDO:0007395 craniofacial-deafness-hand syndrome skos:exactMatch OMIM:122880 craniofacial-deafness-hand syndrome semapv:UnspecifiedMatching MONDO:0007395 craniofacial-deafness-hand syndrome skos:exactMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:UnspecifiedMatching MONDO:0007395 craniofacial-deafness-hand syndrome skos:exactMatch SCTID:702362004 semapv:UnspecifiedMatching MONDO:0007395 craniofacial-deafness-hand syndrome skos:exactMatch mesh:C536453 semapv:UnspecifiedMatching MONDO:0007396 dysostosis, Stanescu type skos:exactMatch OMIM:122900 craniofacial dysostosis with diaphyseal hyperplasia semapv:UnspecifiedMatching MONDO:0007396 dysostosis, Stanescu type skos:exactMatch Orphanet:1798 Dysostosis, Stanescu type semapv:UnspecifiedMatching MONDO:0007396 dysostosis, Stanescu type skos:exactMatch SCTID:254124008 semapv:UnspecifiedMatching MONDO:0007396 dysostosis, Stanescu type skos:exactMatch UMLS:C0432263 semapv:UnspecifiedMatching MONDO:0007396 dysostosis, Stanescu type skos:exactMatch mesh:C562974 semapv:UnspecifiedMatching MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch DOID:0080801 autosomal dominant craniometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch OMIM:123000 craniometaphyseal dysplasia, autosomal dominant semapv:UnspecifiedMatching MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch UMLS:C1852502 semapv:UnspecifiedMatching MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch mesh:C565145 semapv:UnspecifiedMatching MONDO:0007398 craniorhiny skos:exactMatch OMIM:123050 craniorhiny semapv:UnspecifiedMatching MONDO:0007398 craniorhiny skos:exactMatch Orphanet:157832 Craniorhiny semapv:UnspecifiedMatching MONDO:0007398 craniorhiny skos:exactMatch UMLS:C1852501 semapv:UnspecifiedMatching MONDO:0007398 craniorhiny skos:exactMatch mesh:C565144 semapv:UnspecifiedMatching MONDO:0007399 TWIST1-related craniosynostosis skos:exactMatch OMIM:123100 craniosynostosis 1 semapv:UnspecifiedMatching MONDO:0007399 TWIST1-related craniosynostosis skos:exactMatch SCTID:57219006 semapv:UnspecifiedMatching MONDO:0007399 TWIST1-related craniosynostosis skos:exactMatch UMLS:C4551902 semapv:UnspecifiedMatching MONDO:0007400 Jackson-Weiss syndrome skos:exactMatch DOID:0111337 Jackson-Weiss syndrome semapv:UnspecifiedMatching MONDO:0007400 Jackson-Weiss syndrome skos:exactMatch NCIT:C123814 Jackson-Weiss Syndrome semapv:UnspecifiedMatching MONDO:0007400 Jackson-Weiss syndrome skos:exactMatch OMIM:123150 jackson-weiss syndrome semapv:UnspecifiedMatching MONDO:0007400 Jackson-Weiss syndrome skos:exactMatch Orphanet:1540 Jackson-Weiss syndrome semapv:UnspecifiedMatching MONDO:0007400 Jackson-Weiss syndrome skos:exactMatch SCTID:709105005 semapv:UnspecifiedMatching MONDO:0007400 Jackson-Weiss syndrome skos:exactMatch UMLS:C0795998 semapv:UnspecifiedMatching MONDO:0007400 Jackson-Weiss syndrome skos:exactMatch mesh:C537559 semapv:UnspecifiedMatching MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:exactMatch OMIM:123155 hydrocephalus, autosomal dominant semapv:UnspecifiedMatching MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:exactMatch Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome semapv:UnspecifiedMatching MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:exactMatch SCTID:720813007 semapv:UnspecifiedMatching MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:exactMatch UMLS:C1838347 semapv:UnspecifiedMatching MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:exactMatch mesh:C563973 semapv:UnspecifiedMatching MONDO:0007402 creatine phosphokinase, elevated serum skos:exactMatch OMIM:123320 creatine phosphokinase, elevated serum semapv:UnspecifiedMatching MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:exactMatch OMIM:123400 creutzfeldt-jakob disease semapv:UnspecifiedMatching MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:exactMatch Orphanet:282166 Inherited Creutzfeldt-Jakob disease semapv:UnspecifiedMatching MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:exactMatch SCTID:715807002 semapv:UnspecifiedMatching MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:exactMatch UMLS:C0751254 semapv:UnspecifiedMatching MONDO:0007404 Cri-du-chat syndrome skos:exactMatch DOID:12580 Cri-Du-Chat syndrome semapv:UnspecifiedMatching MONDO:0007404 Cri-du-chat syndrome skos:exactMatch NCIT:C34518 Cri du Chat Syndrome semapv:UnspecifiedMatching MONDO:0007404 Cri-du-chat syndrome skos:exactMatch OMIM:123450 cri-du-chat syndrome semapv:UnspecifiedMatching MONDO:0007404 Cri-du-chat syndrome skos:exactMatch Orphanet:281 Monosomy 5p semapv:UnspecifiedMatching MONDO:0007404 Cri-du-chat syndrome skos:exactMatch SCTID:70173007 semapv:UnspecifiedMatching MONDO:0007404 Cri-du-chat syndrome skos:exactMatch UMLS:C0010314 semapv:UnspecifiedMatching MONDO:0007404 Cri-du-chat syndrome skos:exactMatch mesh:D003410 semapv:UnspecifiedMatching MONDO:0007405 Crouzon syndrome skos:exactMatch DOID:2339 Crouzon syndrome semapv:UnspecifiedMatching MONDO:0007405 Crouzon syndrome skos:exactMatch NCIT:C84653 Craniofacial Dysostosis semapv:UnspecifiedMatching MONDO:0007405 Crouzon syndrome skos:exactMatch OMIM:123500 crouzon syndrome semapv:UnspecifiedMatching MONDO:0007405 Crouzon syndrome skos:exactMatch Orphanet:207 Crouzon syndrome semapv:UnspecifiedMatching MONDO:0007405 Crouzon syndrome skos:exactMatch SCTID:28861008 semapv:UnspecifiedMatching MONDO:0007405 Crouzon syndrome skos:exactMatch UMLS:C0010273 semapv:UnspecifiedMatching MONDO:0007405 Crouzon syndrome skos:exactMatch mesh:D003394 semapv:UnspecifiedMatching MONDO:0007406 cryofibrinogenemia, familial primary skos:exactMatch OMIM:123540 cryofibrinogenemia, familial primary semapv:UnspecifiedMatching MONDO:0007406 cryofibrinogenemia, familial primary skos:exactMatch UMLS:C1852457 semapv:UnspecifiedMatching MONDO:0007406 cryofibrinogenemia, familial primary skos:exactMatch mesh:C565142 semapv:UnspecifiedMatching MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch OMIM:123550 cryoglobulinemia, familial mixed semapv:UnspecifiedMatching MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:UnspecifiedMatching MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch SCTID:190815001 semapv:UnspecifiedMatching MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch UMLS:C1852456 semapv:UnspecifiedMatching MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch mesh:C565141 semapv:UnspecifiedMatching MONDO:0007408 cryptotia, familial skos:exactMatch OMIM:123557 cryptotia, familial semapv:UnspecifiedMatching MONDO:0007408 cryptotia, familial skos:exactMatch UMLS:C1852455 semapv:UnspecifiedMatching MONDO:0007408 cryptotia, familial skos:exactMatch mesh:C565140 semapv:UnspecifiedMatching MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:exactMatch OMIM:123560 cryptomicrotia-brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:exactMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:UnspecifiedMatching MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:exactMatch SCTID:725096002 semapv:UnspecifiedMatching MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:exactMatch UMLS:C1852454 semapv:UnspecifiedMatching MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:exactMatch mesh:C536219 semapv:UnspecifiedMatching MONDO:0007410 isolated cryptophthalmia skos:exactMatch DOID:0111717 isolated cryptophthalmia semapv:UnspecifiedMatching MONDO:0007410 isolated cryptophthalmia skos:exactMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:UnspecifiedMatching MONDO:0007410 isolated cryptophthalmia skos:exactMatch Orphanet:91396 Isolated cryptophthalmia semapv:UnspecifiedMatching MONDO:0007410 isolated cryptophthalmia skos:exactMatch SCTID:718691008 semapv:UnspecifiedMatching MONDO:0007410 isolated cryptophthalmia skos:exactMatch UMLS:C1852453 semapv:UnspecifiedMatching MONDO:0007410 isolated cryptophthalmia skos:exactMatch mesh:C565138 semapv:UnspecifiedMatching MONDO:0007411 cutis laxa, autosomal dominant 1 skos:exactMatch DOID:0070130 autosomal dominant cutis laxa 1 semapv:UnspecifiedMatching MONDO:0007411 cutis laxa, autosomal dominant 1 skos:exactMatch OMIM:123700 cutis laxa, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0007411 cutis laxa, autosomal dominant 1 skos:exactMatch UMLS:C3276539 semapv:UnspecifiedMatching MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch DOID:0050660 Beare-Stevenson cutis gyrata syndrome semapv:UnspecifiedMatching MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch NCIT:C123813 Beare-Stevenson Cutis Gyrata Syndrome semapv:UnspecifiedMatching MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch OMIM:123790 beare-stevenson cutis gyrata syndrome semapv:UnspecifiedMatching MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:UnspecifiedMatching MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch SCTID:703528008 semapv:UnspecifiedMatching MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch UMLS:C1852406 semapv:UnspecifiedMatching MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch mesh:C565129 semapv:UnspecifiedMatching MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:exactMatch OMIM:123853 cyprus facial neuromusculoskeletal syndrome semapv:UnspecifiedMatching MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:exactMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:UnspecifiedMatching MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:exactMatch SCTID:732261005 semapv:UnspecifiedMatching MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:exactMatch UMLS:C1852396 semapv:UnspecifiedMatching MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:exactMatch mesh:C536229 semapv:UnspecifiedMatching MONDO:0007414 Gorham-Stout disease skos:exactMatch OMIM:123880 cystic angiomatosis of bone, diffuse semapv:UnspecifiedMatching MONDO:0007414 Gorham-Stout disease skos:exactMatch Orphanet:73 Gorham-Stout disease semapv:UnspecifiedMatching MONDO:0007414 Gorham-Stout disease skos:exactMatch SCTID:1515008 semapv:UnspecifiedMatching MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:exactMatch DOID:0080111 mitochondrial complex III deficiency nuclear type 1 semapv:UnspecifiedMatching MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:exactMatch OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 semapv:UnspecifiedMatching MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:exactMatch mesh:C565128 semapv:UnspecifiedMatching MONDO:0007416 Balkan nephropathy skos:exactMatch DOID:3052 Balkan nephropathy semapv:UnspecifiedMatching MONDO:0007416 Balkan nephropathy skos:exactMatch ICD10CM:N15.0 Balkan nephropathy semapv:UnspecifiedMatching MONDO:0007416 Balkan nephropathy skos:exactMatch NCIT:C123025 Aristolochic Acid Nephropathy semapv:UnspecifiedMatching MONDO:0007416 Balkan nephropathy skos:exactMatch OMIM:124100 danubian endemic familial nephropathy semapv:UnspecifiedMatching MONDO:0007416 Balkan nephropathy skos:exactMatch SCTID:26121002 semapv:UnspecifiedMatching MONDO:0007416 Balkan nephropathy skos:exactMatch UMLS:C0004698 semapv:UnspecifiedMatching MONDO:0007416 Balkan nephropathy skos:exactMatch mesh:D001449 semapv:UnspecifiedMatching MONDO:0007417 Darier disease skos:exactMatch DOID:2734 keratosis follicularis semapv:UnspecifiedMatching MONDO:0007417 Darier disease skos:exactMatch NCIT:C84665 Darier Disease semapv:UnspecifiedMatching MONDO:0007417 Darier disease skos:exactMatch OMIM:124200 darier-white disease semapv:UnspecifiedMatching MONDO:0007417 Darier disease skos:exactMatch Orphanet:218 Darier disease semapv:UnspecifiedMatching MONDO:0007417 Darier disease skos:exactMatch SCTID:48611009 semapv:UnspecifiedMatching MONDO:0007417 Darier disease skos:exactMatch UMLS:C0022595 semapv:UnspecifiedMatching MONDO:0007417 Darier disease skos:exactMatch mesh:D007644 semapv:UnspecifiedMatching MONDO:0007418 Darwinian tubercle of pinna skos:exactMatch OMIM:124300 darwinian tubercle of pinna semapv:UnspecifiedMatching MONDO:0007418 Darwinian tubercle of pinna skos:exactMatch UMLS:C1852294 semapv:UnspecifiedMatching MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:exactMatch DOID:0080720 autosomal dominant congenital deafness with onychodystrophy semapv:UnspecifiedMatching MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:exactMatch OMIM:124480 deafness, congenital, with onychodystrophy, autosomal dominant semapv:UnspecifiedMatching MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:exactMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:UnspecifiedMatching MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:exactMatch UMLS:C2675730 semapv:UnspecifiedMatching MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:exactMatch OMIM:124490 deafness, conductive stapedial, with ear malformation and facial palsy semapv:UnspecifiedMatching MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:exactMatch Orphanet:3232 Deafness-ear malformation-facial palsy syndrome semapv:UnspecifiedMatching MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:exactMatch SCTID:716243005 semapv:UnspecifiedMatching MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:exactMatch mesh:C565123 semapv:UnspecifiedMatching MONDO:0007422 keratoderma hereditarium mutilans skos:exactMatch DOID:0111339 Vohwinkel syndrome semapv:UnspecifiedMatching MONDO:0007422 keratoderma hereditarium mutilans skos:exactMatch OMIM:124500 vohwinkel syndrome semapv:UnspecifiedMatching MONDO:0007422 keratoderma hereditarium mutilans skos:exactMatch Orphanet:494 Keratoderma hereditarium mutilans semapv:UnspecifiedMatching MONDO:0007422 keratoderma hereditarium mutilans skos:exactMatch SCTID:24559001 semapv:UnspecifiedMatching MONDO:0007422 keratoderma hereditarium mutilans skos:exactMatch mesh:C536457 semapv:UnspecifiedMatching MONDO:0007423 deafness, mid-tone neural skos:exactMatch OMIM:124700 deafness, mid-tone neural semapv:UnspecifiedMatching MONDO:0007423 deafness, mid-tone neural skos:exactMatch UMLS:C1852283 semapv:UnspecifiedMatching MONDO:0007423 deafness, mid-tone neural skos:exactMatch mesh:C565122 semapv:UnspecifiedMatching MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:exactMatch DOID:0110541 autosomal dominant nonsyndromic deafness 1 semapv:UnspecifiedMatching MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:exactMatch OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia semapv:UnspecifiedMatching MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:exactMatch UMLS:C1852282 semapv:UnspecifiedMatching MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:exactMatch mesh:C565121 semapv:UnspecifiedMatching MONDO:0007425 deafness, sensorineural, with peripheral neuropathy and arterial disease skos:exactMatch OMIM:124950 deafness, sensorineural, with peripheral neuropathy and arterial disease semapv:UnspecifiedMatching MONDO:0007425 deafness, sensorineural, with peripheral neuropathy and arterial disease skos:exactMatch UMLS:C1852280 semapv:UnspecifiedMatching MONDO:0007425 deafness, sensorineural, with peripheral neuropathy and arterial disease skos:exactMatch mesh:C565120 semapv:UnspecifiedMatching MONDO:0007426 deafness, unilateral skos:exactMatch OMIM:125000 deafness, unilateral semapv:UnspecifiedMatching MONDO:0007426 deafness, unilateral skos:exactMatch UMLS:C2607947 semapv:UnspecifiedMatching MONDO:0007426 deafness, unilateral skos:exactMatch mesh:C567079 semapv:UnspecifiedMatching MONDO:0007427 deafness with anhidrotic ectodermal dysplasia skos:exactMatch OMIM:125050 deafness with anhidrotic ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0007427 deafness with anhidrotic ectodermal dysplasia skos:exactMatch UMLS:C1852279 semapv:UnspecifiedMatching MONDO:0007427 deafness with anhidrotic ectodermal dysplasia skos:exactMatch mesh:C565119 semapv:UnspecifiedMatching MONDO:0007428 deafness-craniofacial syndrome skos:exactMatch OMIM:125230 deafness-craniofacial syndrome semapv:UnspecifiedMatching MONDO:0007428 deafness-craniofacial syndrome skos:exactMatch Orphanet:3241 Deafness-craniofacial syndrome semapv:UnspecifiedMatching MONDO:0007428 deafness-craniofacial syndrome skos:exactMatch SCTID:716245003 semapv:UnspecifiedMatching MONDO:0007428 deafness-craniofacial syndrome skos:exactMatch UMLS:C1852278 semapv:UnspecifiedMatching MONDO:0007428 deafness-craniofacial syndrome skos:exactMatch mesh:C565118 semapv:UnspecifiedMatching MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy semapv:UnspecifiedMatching MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch UMLS:C3276549 semapv:UnspecifiedMatching MONDO:0007430 dens evaginatus skos:exactMatch OMIM:125280 dens evaginatus semapv:UnspecifiedMatching MONDO:0007430 dens evaginatus skos:exactMatch SCTID:63691004 semapv:UnspecifiedMatching MONDO:0007431 dens in dente and palatal invaginations skos:exactMatch OMIM:125300 dens 1n dente and palatal invaginations semapv:UnspecifiedMatching MONDO:0007431 dens in dente and palatal invaginations skos:exactMatch UMLS:C1852250 semapv:UnspecifiedMatching MONDO:0007431 dens in dente and palatal invaginations skos:exactMatch mesh:C538211 semapv:UnspecifiedMatching MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch DOID:13945 CADASIL semapv:UnspecifiedMatching MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch OMIMPS:125310 semapv:UnspecifiedMatching MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch UMLS:C0751587 semapv:UnspecifiedMatching MONDO:0007433 dementia/parkinsonism with non-Alzheimer amyloid plaques skos:exactMatch OMIM:125320 dementia/parkinsonism with non-alzheimer amyloid plaques semapv:UnspecifiedMatching MONDO:0007433 dementia/parkinsonism with non-Alzheimer amyloid plaques skos:exactMatch UMLS:C1852223 semapv:UnspecifiedMatching MONDO:0007433 dementia/parkinsonism with non-Alzheimer amyloid plaques skos:exactMatch mesh:C565115 semapv:UnspecifiedMatching MONDO:0007434 primary failure of tooth eruption skos:exactMatch DOID:0111341 primary failure of tooth eruption semapv:UnspecifiedMatching MONDO:0007434 primary failure of tooth eruption skos:exactMatch OMIM:125350 failure of tooth eruption, primary semapv:UnspecifiedMatching MONDO:0007434 primary failure of tooth eruption skos:exactMatch Orphanet:412206 Primary failure of tooth eruption semapv:UnspecifiedMatching MONDO:0007434 primary failure of tooth eruption skos:exactMatch UMLS:C1852222 semapv:UnspecifiedMatching MONDO:0007434 primary failure of tooth eruption skos:exactMatch mesh:C565114 semapv:UnspecifiedMatching MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch DOID:0060162 dentatorubral-pallidoluysian atrophy semapv:UnspecifiedMatching MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch NCIT:C122653 Dentatorubral-Pallidoluysian Atrophy semapv:UnspecifiedMatching MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch OMIM:125370 dentatorubral-pallidoluysian atrophy semapv:UnspecifiedMatching MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:UnspecifiedMatching MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch SCTID:68116008 semapv:UnspecifiedMatching MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch UMLS:C0751781 semapv:UnspecifiedMatching MONDO:0007436 dentin dysplasia type I skos:exactMatch OMIM:125400 dentin dysplasia, iia 1 semapv:UnspecifiedMatching MONDO:0007436 dentin dysplasia type I skos:exactMatch Orphanet:99789 Dentin dysplasia type I semapv:UnspecifiedMatching MONDO:0007436 dentin dysplasia type I skos:exactMatch SCTID:109493006 semapv:UnspecifiedMatching MONDO:0007436 dentin dysplasia type I skos:exactMatch UMLS:C0399379 semapv:UnspecifiedMatching MONDO:0007436 dentin dysplasia type I skos:exactMatch mesh:C531665 semapv:UnspecifiedMatching MONDO:0007436 dentin dysplasia type I skos:exactMatch mesh:C538215 semapv:UnspecifiedMatching MONDO:0007437 dentin dysplasia type II skos:exactMatch OMIM:125420 dentin dysplasia, iia 2 semapv:UnspecifiedMatching MONDO:0007437 dentin dysplasia type II skos:exactMatch Orphanet:99791 Dentin dysplasia type II semapv:UnspecifiedMatching MONDO:0007437 dentin dysplasia type II skos:exactMatch SCTID:109494000 semapv:UnspecifiedMatching MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:exactMatch OMIM:125440 dentin dysplasia with sclerotic bones semapv:UnspecifiedMatching MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:exactMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:UnspecifiedMatching MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:exactMatch UMLS:C1852201 semapv:UnspecifiedMatching MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:exactMatch mesh:C538213 semapv:UnspecifiedMatching MONDO:0007439 deoxyribose-5-phosphate aldolase deficiency skos:exactMatch OMIM:125460 deoxyribose-5-phosphate aldolase deficiency semapv:UnspecifiedMatching MONDO:0007439 deoxyribose-5-phosphate aldolase deficiency skos:exactMatch UMLS:C1852200 semapv:UnspecifiedMatching MONDO:0007439 deoxyribose-5-phosphate aldolase deficiency skos:exactMatch mesh:C565112 semapv:UnspecifiedMatching MONDO:0007440 major affective disorder 1 skos:exactMatch OMIM:125480 major affective disorder 1 semapv:UnspecifiedMatching MONDO:0007440 major affective disorder 1 skos:exactMatch mesh:C565111 semapv:UnspecifiedMatching MONDO:0007441 dentinogenesis imperfecta type 2 skos:exactMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:UnspecifiedMatching MONDO:0007441 dentinogenesis imperfecta type 2 skos:exactMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:UnspecifiedMatching MONDO:0007442 dentinogenesis imperfecta type 3 skos:exactMatch OMIM:125500 dentinogenesis imperfecta, shields iia 3 semapv:UnspecifiedMatching MONDO:0007442 dentinogenesis imperfecta type 3 skos:exactMatch Orphanet:166265 Dentinogenesis imperfecta type 3 semapv:UnspecifiedMatching MONDO:0007442 dentinogenesis imperfecta type 3 skos:exactMatch SCTID:234970006 semapv:UnspecifiedMatching MONDO:0007442 dentinogenesis imperfecta type 3 skos:exactMatch mesh:C538216 semapv:UnspecifiedMatching MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:exactMatch OMIM:125520 cayler cardiofacial syndrome semapv:UnspecifiedMatching MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:exactMatch Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris semapv:UnspecifiedMatching MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:exactMatch SCTID:51409009 semapv:UnspecifiedMatching MONDO:0007444 dermal Ridges, patternless skos:exactMatch OMIM:125540 dermal ridges, patternless semapv:UnspecifiedMatching MONDO:0007444 dermal Ridges, patternless skos:exactMatch UMLS:C1852160 semapv:UnspecifiedMatching MONDO:0007444 dermal Ridges, patternless skos:exactMatch mesh:C565109 semapv:UnspecifiedMatching MONDO:0007445 dermatopathia pigmentosa reticularis skos:exactMatch DOID:0111342 dermatopathia pigmentosa reticularis semapv:UnspecifiedMatching MONDO:0007445 dermatopathia pigmentosa reticularis skos:exactMatch OMIM:125595 dermatopathia pigmentosa reticularis semapv:UnspecifiedMatching MONDO:0007445 dermatopathia pigmentosa reticularis skos:exactMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:UnspecifiedMatching MONDO:0007445 dermatopathia pigmentosa reticularis skos:exactMatch SCTID:239088003 semapv:UnspecifiedMatching MONDO:0007445 dermatopathia pigmentosa reticularis skos:exactMatch mesh:C535374 semapv:UnspecifiedMatching MONDO:0007446 dermatosis papulosa nigra skos:exactMatch DOID:4400 dermatosis papulosa nigra semapv:UnspecifiedMatching MONDO:0007446 dermatosis papulosa nigra skos:exactMatch NCIT:C2984 Dermatosis Papulosa Nigra semapv:UnspecifiedMatching MONDO:0007446 dermatosis papulosa nigra skos:exactMatch OMIM:125600 dermatosis papulosa nigra semapv:UnspecifiedMatching MONDO:0007446 dermatosis papulosa nigra skos:exactMatch SCTID:254669003 semapv:UnspecifiedMatching MONDO:0007446 dermatosis papulosa nigra skos:exactMatch UMLS:C0011645 semapv:UnspecifiedMatching MONDO:0007446 dermatosis papulosa nigra skos:exactMatch mesh:C562379 semapv:UnspecifiedMatching MONDO:0007447 autosomal dominant vibratory urticaria skos:exactMatch OMIM:125630 vibratory urticaria semapv:UnspecifiedMatching MONDO:0007447 autosomal dominant vibratory urticaria skos:exactMatch Orphanet:493342 Vibratory urticaria semapv:UnspecifiedMatching MONDO:0007447 autosomal dominant vibratory urticaria skos:exactMatch SCTID:238694002 semapv:UnspecifiedMatching MONDO:0007447 autosomal dominant vibratory urticaria skos:exactMatch mesh:C536347 semapv:UnspecifiedMatching MONDO:0007448 familial dermatographia skos:exactMatch DOID:743 dermatographia semapv:UnspecifiedMatching MONDO:0007448 familial dermatographia skos:exactMatch ICD10CM:L50.3 Dermatographic urticaria semapv:UnspecifiedMatching MONDO:0007448 familial dermatographia skos:exactMatch OMIM:125635 dermographism, familial semapv:UnspecifiedMatching MONDO:0007448 familial dermatographia skos:exactMatch SCTID:7632005 semapv:UnspecifiedMatching MONDO:0007448 familial dermatographia skos:exactMatch mesh:C536612 semapv:UnspecifiedMatching MONDO:0007449 dermo-odonto dysplasia skos:exactMatch OMIM:125640 dermoodontodysplasia semapv:UnspecifiedMatching MONDO:0007449 dermo-odonto dysplasia skos:exactMatch Orphanet:1660 Dermoodontodysplasia semapv:UnspecifiedMatching MONDO:0007449 dermo-odonto dysplasia skos:exactMatch SCTID:721091003 semapv:UnspecifiedMatching MONDO:0007449 dermo-odonto dysplasia skos:exactMatch UMLS:C1852144 semapv:UnspecifiedMatching MONDO:0007449 dermo-odonto dysplasia skos:exactMatch mesh:C565103 semapv:UnspecifiedMatching MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch DOID:12388 neurohypophyseal diabetes insipidus semapv:UnspecifiedMatching MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch NCIT:C84933 Neurogenic Diabetes Insipidus semapv:UnspecifiedMatching MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch OMIM:125700 diabetes insipidus, neurohypophyseal semapv:UnspecifiedMatching MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:UnspecifiedMatching MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch SCTID:45369008 semapv:UnspecifiedMatching MONDO:0007451 diabetes insipidus, nephrogenic, autosomal skos:exactMatch DOID:0081061 nephrogenic diabetes insipidus type 2 semapv:UnspecifiedMatching MONDO:0007451 diabetes insipidus, nephrogenic, autosomal skos:exactMatch OMIM:125800 diabetes insipidus, nephrogenic, 2, autosomal semapv:UnspecifiedMatching MONDO:0007451 diabetes insipidus, nephrogenic, autosomal skos:exactMatch UMLS:C1563706 semapv:UnspecifiedMatching MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch DOID:0111099 maturity-onset diabetes of the young type 1 semapv:UnspecifiedMatching MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch NCIT:C129744 Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes semapv:UnspecifiedMatching MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch OMIM:125850 maturity-onset diabetes of the young, iia 1 semapv:UnspecifiedMatching MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch SCTID:609562003 semapv:UnspecifiedMatching MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch UMLS:C1852093 semapv:UnspecifiedMatching MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch mesh:C565101 semapv:UnspecifiedMatching MONDO:0007453 maturity-onset diabetes of the young type 2 skos:exactMatch DOID:0111100 maturity-onset diabetes of the young type 2 semapv:UnspecifiedMatching MONDO:0007453 maturity-onset diabetes of the young type 2 skos:exactMatch NCIT:C129741 Glucokinase-Associated Diabetes Mellitus semapv:UnspecifiedMatching MONDO:0007453 maturity-onset diabetes of the young type 2 skos:exactMatch OMIM:125851 maturity-onset diabetes of the young, iia 2 semapv:UnspecifiedMatching MONDO:0007453 maturity-onset diabetes of the young type 2 skos:exactMatch SCTID:237604008 semapv:UnspecifiedMatching MONDO:0007454 type 1 diabetes mellitus 2 skos:exactMatch DOID:0110741 type 1 diabetes mellitus 2 semapv:UnspecifiedMatching MONDO:0007454 type 1 diabetes mellitus 2 skos:exactMatch OMIM:125852 iia 1 diabetes mellitus 2 semapv:UnspecifiedMatching MONDO:0007454 type 1 diabetes mellitus 2 skos:exactMatch UMLS:C1852092 semapv:UnspecifiedMatching MONDO:0007454 type 1 diabetes mellitus 2 skos:exactMatch mesh:C565100 semapv:UnspecifiedMatching MONDO:0007456 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency skos:exactMatch OMIM:125890 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency semapv:UnspecifiedMatching MONDO:0007456 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency skos:exactMatch UMLS:C1852087 semapv:UnspecifiedMatching MONDO:0007456 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency skos:exactMatch mesh:C565099 semapv:UnspecifiedMatching MONDO:0007457 diastema, dental medial skos:exactMatch OMIM:125900 diastema, dental medial semapv:UnspecifiedMatching MONDO:0007457 diastema, dental medial skos:exactMatch mesh:C565098 semapv:UnspecifiedMatching MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:UnspecifiedMatching MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:exactMatch UMLS:C1852085 semapv:UnspecifiedMatching MONDO:0007459 dilution, pigmentary skos:exactMatch OMIM:126070 dilution, pigmentary semapv:UnspecifiedMatching MONDO:0007459 dilution, pigmentary skos:exactMatch SCTID:23006000 semapv:UnspecifiedMatching MONDO:0007459 dilution, pigmentary skos:exactMatch UMLS:C1876214 semapv:UnspecifiedMatching MONDO:0007459 dilution, pigmentary skos:exactMatch mesh:C566872 semapv:UnspecifiedMatching MONDO:0007460 discrimination, Two-point, reduction 1N skos:exactMatch OMIM:126180 discrimination, two-point, reduction 1n semapv:UnspecifiedMatching MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:exactMatch OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions semapv:UnspecifiedMatching MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:exactMatch Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome semapv:UnspecifiedMatching MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:exactMatch UMLS:C1852073 semapv:UnspecifiedMatching MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:exactMatch mesh:C565094 semapv:UnspecifiedMatching MONDO:0007462 multiple sclerosis, susceptibility to skos:exactMatch OMIMPS:126200 semapv:UnspecifiedMatching MONDO:0007463 distal osteosclerosis skos:exactMatch OMIM:126250 distal osteosclerosis semapv:UnspecifiedMatching MONDO:0007463 distal osteosclerosis skos:exactMatch UMLS:C1852063 semapv:UnspecifiedMatching MONDO:0007463 distal osteosclerosis skos:exactMatch mesh:C565093 semapv:UnspecifiedMatching MONDO:0007464 obsolete isolated distichiasis skos:exactMatch OMIM:126300 distichiasis semapv:UnspecifiedMatching MONDO:0007464 obsolete isolated distichiasis skos:exactMatch Orphanet:99177 Isolated distichiasis semapv:UnspecifiedMatching MONDO:0007464 obsolete isolated distichiasis skos:exactMatch SCTID:95339000 semapv:UnspecifiedMatching MONDO:0007465 distichiasis with congenital anomalies of the heart and peripheral vasculature skos:exactMatch OMIM:126320 distichiasis with congenital anomalies of the heart and peripheral vasculature semapv:UnspecifiedMatching MONDO:0007465 distichiasis with congenital anomalies of the heart and peripheral vasculature skos:exactMatch UMLS:C1852062 semapv:UnspecifiedMatching MONDO:0007465 distichiasis with congenital anomalies of the heart and peripheral vasculature skos:exactMatch mesh:C565092 semapv:UnspecifiedMatching MONDO:0007466 DNA, satellite, 3 skos:exactMatch OMIM:126370 dna, satellite, 3 semapv:UnspecifiedMatching MONDO:0007467 DNA, low-repetitive sequences of skos:exactMatch OMIM:126390 dna, low-repetitive sequences of semapv:UnspecifiedMatching MONDO:0007468 obsolete DNA, satellite, alpha type skos:exactMatch OMIM:126410 dna, satellite, alpha iia semapv:UnspecifiedMatching MONDO:0007469 double nail for fifth toe skos:exactMatch OMIM:126500 double nail for fifth toe semapv:UnspecifiedMatching MONDO:0007469 double nail for fifth toe skos:exactMatch mesh:C565090 semapv:UnspecifiedMatching MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:exactMatch DOID:0080721 calvarial doughnut lesions with bone fragility semapv:UnspecifiedMatching MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:exactMatch OMIM:126550 calvarial doughnut lesions with bone fragility semapv:UnspecifiedMatching MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:exactMatch Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome semapv:UnspecifiedMatching MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:exactMatch SCTID:720598005 semapv:UnspecifiedMatching MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:exactMatch UMLS:C1852022 semapv:UnspecifiedMatching MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:exactMatch mesh:C565089 semapv:UnspecifiedMatching MONDO:0007471 Doyne honeycomb retinal dystrophy skos:exactMatch DOID:0060745 Doyne honeycomb retinal dystrophy semapv:UnspecifiedMatching MONDO:0007471 Doyne honeycomb retinal dystrophy skos:exactMatch OMIM:126600 doyne honeycomb retinal dystrophy semapv:UnspecifiedMatching MONDO:0007471 Doyne honeycomb retinal dystrophy skos:exactMatch Orphanet:75376 Familial drusen semapv:UnspecifiedMatching MONDO:0007471 Doyne honeycomb retinal dystrophy skos:exactMatch SCTID:193411004 semapv:UnspecifiedMatching MONDO:0007471 Doyne honeycomb retinal dystrophy skos:exactMatch UMLS:C1832174 semapv:UnspecifiedMatching MONDO:0007472 basal laminar drusen skos:exactMatch DOID:0060746 basal laminar drusen semapv:UnspecifiedMatching MONDO:0007472 basal laminar drusen skos:exactMatch OMIM:126700 basal laminar drusen semapv:UnspecifiedMatching MONDO:0007472 basal laminar drusen skos:exactMatch UMLS:C0730295 semapv:UnspecifiedMatching MONDO:0007472 basal laminar drusen skos:exactMatch mesh:C563034 semapv:UnspecifiedMatching MONDO:0007473 Duane retraction syndrome skos:exactMatch DOID:12557 Duane retraction syndrome semapv:UnspecifiedMatching MONDO:0007473 Duane retraction syndrome skos:exactMatch NCIT:C84678 Duane Syndrome semapv:UnspecifiedMatching MONDO:0007473 Duane retraction syndrome skos:exactMatch OMIMPS:126800 semapv:UnspecifiedMatching MONDO:0007473 Duane retraction syndrome skos:exactMatch Orphanet:233 Duane retraction syndrome semapv:UnspecifiedMatching MONDO:0007473 Duane retraction syndrome skos:exactMatch SCTID:60318001 semapv:UnspecifiedMatching MONDO:0007473 Duane retraction syndrome skos:exactMatch UMLS:C0013261 semapv:UnspecifiedMatching MONDO:0007473 Duane retraction syndrome skos:exactMatch mesh:D004370 semapv:UnspecifiedMatching MONDO:0007474 duodenal ulcer due to antral G-cell hyperfunction skos:exactMatch OMIM:126840 duodenal ulcer due to antral g-cell hyperfunction semapv:UnspecifiedMatching MONDO:0007474 duodenal ulcer due to antral G-cell hyperfunction skos:exactMatch UMLS:C1852009 semapv:UnspecifiedMatching MONDO:0007474 duodenal ulcer due to antral G-cell hyperfunction skos:exactMatch mesh:C535721 semapv:UnspecifiedMatching MONDO:0007475 duodenal ulcer, hyperpepsinogenemic 1 skos:exactMatch OMIM:126850 duodenal ulcer, hyperpepsinogenemic 1 semapv:UnspecifiedMatching MONDO:0007475 duodenal ulcer, hyperpepsinogenemic 1 skos:exactMatch UMLS:C1852008 semapv:UnspecifiedMatching MONDO:0007475 duodenal ulcer, hyperpepsinogenemic 1 skos:exactMatch mesh:C565086 semapv:UnspecifiedMatching MONDO:0007476 familial Dupuytren contracture skos:exactMatch OMIM:126900 dupuytren contracture semapv:UnspecifiedMatching MONDO:0007476 familial Dupuytren contracture skos:exactMatch SCTID:274142002 semapv:UnspecifiedMatching MONDO:0007477 3-M syndrome skos:exactMatch DOID:0060241 3-M syndrome semapv:UnspecifiedMatching MONDO:0007477 3-M syndrome skos:exactMatch OMIMPS:273750 semapv:UnspecifiedMatching MONDO:0007477 3-M syndrome skos:exactMatch Orphanet:2616 3M syndrome semapv:UnspecifiedMatching MONDO:0007477 3-M syndrome skos:exactMatch SCTID:702342007 semapv:UnspecifiedMatching MONDO:0007477 3-M syndrome skos:exactMatch mesh:C535314 semapv:UnspecifiedMatching MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:exactMatch DOID:0080723 Kenny-Caffey syndrome type 2 semapv:UnspecifiedMatching MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:exactMatch NCIT:C130993 Kenny-Caffey Syndrome Type 2 semapv:UnspecifiedMatching MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:exactMatch OMIM:127000 kenny-caffey syndrome, iia 2 semapv:UnspecifiedMatching MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:exactMatch Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome semapv:UnspecifiedMatching MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:exactMatch UMLS:C4316787 semapv:UnspecifiedMatching MONDO:0007479 dwarfism, Levi type skos:exactMatch OMIM:127100 dwarfism, levi iia semapv:UnspecifiedMatching MONDO:0007479 dwarfism, Levi type skos:exactMatch UMLS:C1851994 semapv:UnspecifiedMatching MONDO:0007479 dwarfism, Levi type skos:exactMatch mesh:C565081 semapv:UnspecifiedMatching MONDO:0007480 dwarfism with stiff joints and ocular abnormalities skos:exactMatch OMIM:127200 dwarfism with stiff joints and ocular abnormalities semapv:UnspecifiedMatching MONDO:0007480 dwarfism with stiff joints and ocular abnormalities skos:exactMatch SCTID:72913007 semapv:UnspecifiedMatching MONDO:0007480 dwarfism with stiff joints and ocular abnormalities skos:exactMatch mesh:C535724 semapv:UnspecifiedMatching MONDO:0007481 Leri-Weill dyschondrosteosis skos:exactMatch DOID:0060847 Leri-Weill dyschondrosteosis semapv:UnspecifiedMatching MONDO:0007481 Leri-Weill dyschondrosteosis skos:exactMatch NCIT:C126560 Leri-Weill Dyschondrosteosis semapv:UnspecifiedMatching MONDO:0007481 Leri-Weill dyschondrosteosis skos:exactMatch OMIM:127300 leri-weill dyschondrosteosis semapv:UnspecifiedMatching MONDO:0007481 Leri-Weill dyschondrosteosis skos:exactMatch Orphanet:240 Léri-Weill dyschondrosteosis semapv:UnspecifiedMatching MONDO:0007481 Leri-Weill dyschondrosteosis skos:exactMatch SCTID:17818006 semapv:UnspecifiedMatching MONDO:0007481 Leri-Weill dyschondrosteosis skos:exactMatch UMLS:C0265309 semapv:UnspecifiedMatching MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:exactMatch OMIM:127350 dyschondrosteosis and nephritis semapv:UnspecifiedMatching MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:exactMatch Orphanet:1765 Dyschondrosteosis-nephritis syndrome semapv:UnspecifiedMatching MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:exactMatch UMLS:C1851986 semapv:UnspecifiedMatching MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:exactMatch mesh:C565080 semapv:UnspecifiedMatching MONDO:0007483 dyschromatosis symmetrica hereditaria skos:exactMatch DOID:0060257 dyschromatosis symmetrica hereditaria semapv:UnspecifiedMatching MONDO:0007483 dyschromatosis symmetrica hereditaria skos:exactMatch NCIT:C118435 Dyschromatosis Symmetrica Hereditaria semapv:UnspecifiedMatching MONDO:0007483 dyschromatosis symmetrica hereditaria skos:exactMatch OMIM:127400 dyschromatosis symmetrica hereditaria semapv:UnspecifiedMatching MONDO:0007483 dyschromatosis symmetrica hereditaria skos:exactMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:UnspecifiedMatching MONDO:0007483 dyschromatosis symmetrica hereditaria skos:exactMatch SCTID:239085000 semapv:UnspecifiedMatching MONDO:0007483 dyschromatosis symmetrica hereditaria skos:exactMatch UMLS:C0406775 semapv:UnspecifiedMatching MONDO:0007483 dyschromatosis symmetrica hereditaria skos:exactMatch mesh:C535729 semapv:UnspecifiedMatching MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch DOID:0070014 autosomal dominant dyskeratosis congenita 1 semapv:UnspecifiedMatching MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch NCIT:C176921 Dyskeratosis Congenita, Autosomal Dominant 1 semapv:UnspecifiedMatching MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch OMIM:127550 dyskeratosis congenita, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch SCTID:707273001 semapv:UnspecifiedMatching MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch mesh:C565079 semapv:UnspecifiedMatching MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:exactMatch NCIT:C3940 Hereditary Benign Intraepithelial Dyskeratosis semapv:UnspecifiedMatching MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:exactMatch OMIM:127600 dyskeratosis, hereditary benign intraepithelial semapv:UnspecifiedMatching MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:exactMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:UnspecifiedMatching MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:exactMatch SCTID:400014002 semapv:UnspecifiedMatching MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:exactMatch UMLS:C0265966 semapv:UnspecifiedMatching MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:exactMatch mesh:C562551 semapv:UnspecifiedMatching MONDO:0007487 dyslexia, susceptibility to, 1 skos:exactMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0007488 Lewy body dementia skos:exactMatch DOID:12217 Lewy body dementia semapv:UnspecifiedMatching MONDO:0007488 Lewy body dementia skos:exactMatch ICD10CM:G31.83 Dementia with Lewy bodies semapv:UnspecifiedMatching MONDO:0007488 Lewy body dementia skos:exactMatch NCIT:C84826 Lewy Body Dementia semapv:UnspecifiedMatching MONDO:0007488 Lewy body dementia skos:exactMatch OMIM:127750 dementia, lewy body semapv:UnspecifiedMatching MONDO:0007488 Lewy body dementia skos:exactMatch SCTID:312991009 semapv:UnspecifiedMatching MONDO:0007488 Lewy body dementia skos:exactMatch UMLS:C0752347 semapv:UnspecifiedMatching MONDO:0007489 dysplasia epiphysealis hemimelica skos:exactMatch OMIM:127800 dysplasia epiphysealis hemimelica semapv:UnspecifiedMatching MONDO:0007489 dysplasia epiphysealis hemimelica skos:exactMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:UnspecifiedMatching MONDO:0007489 dysplasia epiphysealis hemimelica skos:exactMatch SCTID:205480005 semapv:UnspecifiedMatching MONDO:0007489 dysplasia epiphysealis hemimelica skos:exactMatch UMLS:C0432282 semapv:UnspecifiedMatching MONDO:0007489 dysplasia epiphysealis hemimelica skos:exactMatch mesh:C537997 semapv:UnspecifiedMatching MONDO:0007490 carpotarsal osteochondromatosis skos:exactMatch OMIM:127820 dysplasia epiphysealis hemimelica with chondromas and osteochondromas semapv:UnspecifiedMatching MONDO:0007490 carpotarsal osteochondromatosis skos:exactMatch Orphanet:2767 Carpotarsal osteochondromatosis semapv:UnspecifiedMatching MONDO:0007490 carpotarsal osteochondromatosis skos:exactMatch SCTID:389272007 semapv:UnspecifiedMatching MONDO:0007490 carpotarsal osteochondromatosis skos:exactMatch UMLS:C1851956 semapv:UnspecifiedMatching MONDO:0007490 carpotarsal osteochondromatosis skos:exactMatch mesh:C565076 semapv:UnspecifiedMatching MONDO:0007491 dystelephalangy skos:exactMatch OMIM:128000 dystelephalangy semapv:UnspecifiedMatching MONDO:0007491 dystelephalangy skos:exactMatch UMLS:C1851955 semapv:UnspecifiedMatching MONDO:0007491 dystelephalangy skos:exactMatch mesh:C538000 semapv:UnspecifiedMatching MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch DOID:0060730 torsion dystonia 1 semapv:UnspecifiedMatching MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch NCIT:C116718 Early Onset Primary Dystonia semapv:UnspecifiedMatching MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:UnspecifiedMatching MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:UnspecifiedMatching MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch UMLS:C1851945 semapv:UnspecifiedMatching MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch mesh:C538005 semapv:UnspecifiedMatching MONDO:0007493 torsion dystonia 4 skos:exactMatch DOID:0090041 torsion dystonia 4 semapv:UnspecifiedMatching MONDO:0007493 torsion dystonia 4 skos:exactMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:UnspecifiedMatching MONDO:0007493 torsion dystonia 4 skos:exactMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:UnspecifiedMatching MONDO:0007493 torsion dystonia 4 skos:exactMatch SCTID:719276005 semapv:UnspecifiedMatching MONDO:0007493 torsion dystonia 4 skos:exactMatch UMLS:C1851943 semapv:UnspecifiedMatching MONDO:0007495 dystonia 5 skos:exactMatch DOID:0090043 dystonia 5 semapv:UnspecifiedMatching MONDO:0007495 dystonia 5 skos:exactMatch OMIM:128230 dystonia, dopa-responsive semapv:UnspecifiedMatching MONDO:0007495 dystonia 5 skos:exactMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:UnspecifiedMatching MONDO:0007495 dystonia 5 skos:exactMatch SCTID:715768000 semapv:UnspecifiedMatching MONDO:0007495 dystonia 5 skos:exactMatch UMLS:C1851920 semapv:UnspecifiedMatching MONDO:0007496 dystonia 12 skos:exactMatch DOID:0090056 dystonia 12 semapv:UnspecifiedMatching MONDO:0007496 dystonia 12 skos:exactMatch NCIT:C157577 Dystonia 12 semapv:UnspecifiedMatching MONDO:0007496 dystonia 12 skos:exactMatch OMIM:128235 dystonia 12 semapv:UnspecifiedMatching MONDO:0007496 dystonia 12 skos:exactMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:UnspecifiedMatching MONDO:0007496 dystonia 12 skos:exactMatch SCTID:702323008 semapv:UnspecifiedMatching MONDO:0007496 dystonia 12 skos:exactMatch UMLS:C1868681 semapv:UnspecifiedMatching MONDO:0007496 dystonia 12 skos:exactMatch mesh:C538001 semapv:UnspecifiedMatching MONDO:0007497 ear antitragus, tag at base of skos:exactMatch OMIM:128290 ear antitragus, tag at base of semapv:UnspecifiedMatching MONDO:0007498 ear exostoses skos:exactMatch OMIM:128300 ear exostoses semapv:UnspecifiedMatching MONDO:0007498 ear exostoses skos:exactMatch UMLS:C0155411 semapv:UnspecifiedMatching MONDO:0007499 ear folding skos:exactMatch OMIM:128500 ear folding semapv:UnspecifiedMatching MONDO:0007500 ear malformation skos:exactMatch OMIM:128600 ear malformation semapv:UnspecifiedMatching MONDO:0007500 ear malformation skos:exactMatch SCTID:275259005 semapv:UnspecifiedMatching MONDO:0007501 preauricular fistulae, congenital skos:exactMatch OMIM:128700 preauricular fistulae, congenital semapv:UnspecifiedMatching MONDO:0007501 preauricular fistulae, congenital skos:exactMatch mesh:C563015 semapv:UnspecifiedMatching MONDO:0007502 ear pits, posterior helical skos:exactMatch OMIM:128710 ear pits, posterior helical semapv:UnspecifiedMatching MONDO:0007503 ear without helix skos:exactMatch OMIM:128800 ear without helix semapv:UnspecifiedMatching MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:exactMatch OMIM:128980 earlobes, thickened, with conductive deafness from incudostapedial abnormalities semapv:UnspecifiedMatching MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:exactMatch Orphanet:2405 Thickened earlobes-conductive deafness syndrome semapv:UnspecifiedMatching MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:exactMatch SCTID:722476007 semapv:UnspecifiedMatching MONDO:0007505 earring holes, natural skos:exactMatch OMIM:129000 earring holes, natural semapv:UnspecifiedMatching MONDO:0007506 obsoleted echo virus 11 sensitivity skos:exactMatch OMIM:129150 echo virus 11 sensitivity semapv:UnspecifiedMatching MONDO:0007506 obsoleted echo virus 11 sensitivity skos:exactMatch UMLS:C1851888 semapv:UnspecifiedMatching MONDO:0007506 obsoleted echo virus 11 sensitivity skos:exactMatch mesh:C565071 semapv:UnspecifiedMatching MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:exactMatch DOID:0080725 BASAN syndrome semapv:UnspecifiedMatching MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:exactMatch OMIM:129200 basan syndrome semapv:UnspecifiedMatching MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:exactMatch Orphanet:1658 Absence of fingerprints-congenital milia syndrome semapv:UnspecifiedMatching MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:exactMatch SCTID:239011004 semapv:UnspecifiedMatching MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:exactMatch mesh:C537659 semapv:UnspecifiedMatching MONDO:0007508 Rapp-Hodgkin syndrome skos:exactMatch DOID:0060330 Rapp-Hodgkin syndrome semapv:UnspecifiedMatching MONDO:0007508 Rapp-Hodgkin syndrome skos:exactMatch OMIM:129400 rapp-hodgkin syndrome semapv:UnspecifiedMatching MONDO:0007508 Rapp-Hodgkin syndrome skos:exactMatch SCTID:7731005 semapv:UnspecifiedMatching MONDO:0007508 Rapp-Hodgkin syndrome skos:exactMatch UMLS:C1785148 semapv:UnspecifiedMatching MONDO:0007508 Rapp-Hodgkin syndrome skos:exactMatch mesh:C535289 semapv:UnspecifiedMatching MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:exactMatch DOID:0111663 ectodermal dysplasia 10A semapv:UnspecifiedMatching MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:exactMatch OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant semapv:UnspecifiedMatching MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:exactMatch UMLS:C3888065 semapv:UnspecifiedMatching MONDO:0007510 Clouston syndrome skos:exactMatch DOID:14693 Clouston syndrome semapv:UnspecifiedMatching MONDO:0007510 Clouston syndrome skos:exactMatch OMIM:129500 clouston syndrome semapv:UnspecifiedMatching MONDO:0007510 Clouston syndrome skos:exactMatch Orphanet:189 Hidrotic ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0007510 Clouston syndrome skos:exactMatch SCTID:54209007 semapv:UnspecifiedMatching MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:exactMatch OMIM:129510 ectodermal dysplasia, trichoodontoonychial iia semapv:UnspecifiedMatching MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:exactMatch Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type semapv:UnspecifiedMatching MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:exactMatch SCTID:734018003 semapv:UnspecifiedMatching MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:exactMatch UMLS:C1851858 semapv:UnspecifiedMatching MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:exactMatch mesh:C565068 semapv:UnspecifiedMatching MONDO:0007512 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet skos:exactMatch OMIM:129540 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet semapv:UnspecifiedMatching MONDO:0007512 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet skos:exactMatch UMLS:C1851851 semapv:UnspecifiedMatching MONDO:0007512 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet skos:exactMatch mesh:C565067 semapv:UnspecifiedMatching MONDO:0007513 ectodermal dysplasia with adrenal cyst skos:exactMatch OMIM:129550 ectodermal dysplasia with adrenal cyst semapv:UnspecifiedMatching MONDO:0007513 ectodermal dysplasia with adrenal cyst skos:exactMatch UMLS:C1851850 semapv:UnspecifiedMatching MONDO:0007513 ectodermal dysplasia with adrenal cyst skos:exactMatch mesh:C538015 semapv:UnspecifiedMatching MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant skos:exactMatch DOID:0111150 autosomal dominant isolated ectopia lentis 1 semapv:UnspecifiedMatching MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant skos:exactMatch OMIM:129600 ectopia lentis 1, isolated, autosomal dominant semapv:UnspecifiedMatching MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant skos:exactMatch UMLS:C3541518 semapv:UnspecifiedMatching MONDO:0007515 ectopia pupillae skos:exactMatch OMIM:129750 ectopia pupillae semapv:UnspecifiedMatching MONDO:0007515 ectopia pupillae skos:exactMatch SCTID:193523008 semapv:UnspecifiedMatching MONDO:0007515 ectopia pupillae skos:exactMatch mesh:C536185 semapv:UnspecifiedMatching MONDO:0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate skos:exactMatch OMIM:129810 ectrodactyly and ectodermal dysplasia without cleft lip/palate semapv:UnspecifiedMatching MONDO:0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate skos:exactMatch UMLS:C1851849 semapv:UnspecifiedMatching MONDO:0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate skos:exactMatch mesh:C565065 semapv:UnspecifiedMatching MONDO:0007517 ectrodactyly-cleft palate syndrome skos:exactMatch OMIM:129830 ectrodactyly-cleft palate syndrome semapv:UnspecifiedMatching MONDO:0007517 ectrodactyly-cleft palate syndrome skos:exactMatch UMLS:C1851848 semapv:UnspecifiedMatching MONDO:0007517 ectrodactyly-cleft palate syndrome skos:exactMatch mesh:C565064 semapv:UnspecifiedMatching MONDO:0007518 edema, familial idiopathic, prepubertal skos:exactMatch OMIM:129840 edema, familial idiopathic, prepubertal semapv:UnspecifiedMatching MONDO:0007518 edema, familial idiopathic, prepubertal skos:exactMatch UMLS:C1851847 semapv:UnspecifiedMatching MONDO:0007518 edema, familial idiopathic, prepubertal skos:exactMatch mesh:C565063 semapv:UnspecifiedMatching MONDO:0007519 Edinburgh malformation syndrome skos:exactMatch OMIM:129850 edinburgh malformation syndrome semapv:UnspecifiedMatching MONDO:0007519 Edinburgh malformation syndrome skos:exactMatch Orphanet:1895 Edinburgh malformation syndrome semapv:UnspecifiedMatching MONDO:0007519 Edinburgh malformation syndrome skos:exactMatch UMLS:C0795933 semapv:UnspecifiedMatching MONDO:0007519 Edinburgh malformation syndrome skos:exactMatch mesh:C563051 semapv:UnspecifiedMatching MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:exactMatch DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 semapv:UnspecifiedMatching MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:exactMatch OMIM:129900 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 semapv:UnspecifiedMatching MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:exactMatch mesh:C565062 semapv:UnspecifiedMatching MONDO:0007521 obsolete egasyn skos:exactMatch OMIM:129905 egasyn semapv:UnspecifiedMatching MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:exactMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:exactMatch SCTID:715318006 semapv:UnspecifiedMatching MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:exactMatch UMLS:C4225429 semapv:UnspecifiedMatching MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch DOID:14757 Ehlers-Danlos syndrome hypermobility type semapv:UnspecifiedMatching MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch NCIT:C125698 Ehlers-Danlos Syndrome, Type III semapv:UnspecifiedMatching MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch OMIM:130020 ehlers-danlos syndrome, hypermobility iia semapv:UnspecifiedMatching MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch SCTID:30652003 semapv:UnspecifiedMatching MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch UMLS:C0268337 semapv:UnspecifiedMatching MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch mesh:C536196 semapv:UnspecifiedMatching MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type skos:exactMatch DOID:14756 vascular type Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type skos:exactMatch OMIM:130050 ehlers-danlos syndrome, vascular iia semapv:UnspecifiedMatching MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 semapv:UnspecifiedMatching MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch NCIT:C125701 Ehlers-Danlos Syndrome, Type VII semapv:UnspecifiedMatching MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:UnspecifiedMatching MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch SCTID:4170004 semapv:UnspecifiedMatching MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch UMLS:C4551623 semapv:UnspecifiedMatching MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch mesh:C562625 semapv:UnspecifiedMatching MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:exactMatch DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 semapv:UnspecifiedMatching MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:exactMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:exactMatch SCTID:720861000 semapv:UnspecifiedMatching MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:exactMatch UMLS:C1869122 semapv:UnspecifiedMatching MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:exactMatch mesh:C536201 semapv:UnspecifiedMatching MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:exactMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:exactMatch SCTID:50869007 semapv:UnspecifiedMatching MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:exactMatch mesh:C562626 semapv:UnspecifiedMatching MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified skos:exactMatch OMIM:130090 ehlers-danlos syndrome, autosomal dominant, iia unspecified semapv:UnspecifiedMatching MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified skos:exactMatch UMLS:C0220679 semapv:UnspecifiedMatching MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified skos:exactMatch mesh:C562424 semapv:UnspecifiedMatching MONDO:0007529 elastosis perforans serpiginosa skos:exactMatch ICD10CM:L87.2 Elastosis perforans serpiginosa semapv:UnspecifiedMatching MONDO:0007529 elastosis perforans serpiginosa skos:exactMatch OMIM:130100 elastosis perforans serpiginosa semapv:UnspecifiedMatching MONDO:0007529 elastosis perforans serpiginosa skos:exactMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:UnspecifiedMatching MONDO:0007529 elastosis perforans serpiginosa skos:exactMatch SCTID:49428008 semapv:UnspecifiedMatching MONDO:0007529 elastosis perforans serpiginosa skos:exactMatch UMLS:C0221271 semapv:UnspecifiedMatching MONDO:0007529 elastosis perforans serpiginosa skos:exactMatch mesh:C536202 semapv:UnspecifiedMatching MONDO:0007530 electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon skos:exactMatch OMIM:130200 electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon semapv:UnspecifiedMatching MONDO:0007531 electroencephalographic peculiarity: fronto-precentral beta wave groups skos:exactMatch OMIM:130300 electroencephalographic peculiarity: fronto-precentral beta wave groups semapv:UnspecifiedMatching MONDO:0007532 obsolete Electroencephalographic peculiarity: occipital slow beta waves skos:exactMatch OMIM:130400 electroencephalographic peculiarity: occipital slow beta waves semapv:UnspecifiedMatching MONDO:0007533 elliptocytosis 2 skos:exactMatch OMIM:130600 elliptocytosis 2 semapv:UnspecifiedMatching MONDO:0007533 elliptocytosis 2 skos:exactMatch UMLS:C1851741 semapv:UnspecifiedMatching MONDO:0007533 elliptocytosis 2 skos:exactMatch mesh:C565058 semapv:UnspecifiedMatching MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch DOID:5572 Beckwith-Wiedemann syndrome semapv:UnspecifiedMatching MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch NCIT:C34415 Beckwith-Wiedemann Syndrome semapv:UnspecifiedMatching MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch OMIM:130650 beckwith-wiedemann syndrome semapv:UnspecifiedMatching MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:UnspecifiedMatching MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch SCTID:81780002 semapv:UnspecifiedMatching MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch UMLS:C0004903 semapv:UnspecifiedMatching MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch mesh:D001506 semapv:UnspecifiedMatching MONDO:0007535 emphysema, hereditary pulmonary skos:exactMatch OMIM:130700 emphysema, hereditary pulmonary semapv:UnspecifiedMatching MONDO:0007535 emphysema, hereditary pulmonary skos:exactMatch UMLS:C1851718 semapv:UnspecifiedMatching MONDO:0007535 emphysema, hereditary pulmonary skos:exactMatch mesh:C565057 semapv:UnspecifiedMatching MONDO:0007536 congenital lobar emphysema skos:exactMatch NCIT:C98895 Congenital Lobar Emphysema semapv:UnspecifiedMatching MONDO:0007536 congenital lobar emphysema skos:exactMatch OMIM:130710 emphysema, congenital lobar semapv:UnspecifiedMatching MONDO:0007536 congenital lobar emphysema skos:exactMatch Orphanet:1928 Congenital lobar emphysema semapv:UnspecifiedMatching MONDO:0007536 congenital lobar emphysema skos:exactMatch SCTID:66987001 semapv:UnspecifiedMatching MONDO:0007536 congenital lobar emphysema skos:exactMatch UMLS:C0265797 semapv:UnspecifiedMatching MONDO:0007536 congenital lobar emphysema skos:exactMatch mesh:C535735 semapv:UnspecifiedMatching MONDO:0007537 lateral meningocele syndrome skos:exactMatch DOID:0111343 lateral meningocele syndrome semapv:UnspecifiedMatching MONDO:0007537 lateral meningocele syndrome skos:exactMatch OMIM:130720 lateral meningocele syndrome semapv:UnspecifiedMatching MONDO:0007537 lateral meningocele syndrome skos:exactMatch Orphanet:2789 Lateral meningocele syndrome semapv:UnspecifiedMatching MONDO:0007537 lateral meningocele syndrome skos:exactMatch UMLS:C1851710 semapv:UnspecifiedMatching MONDO:0007537 lateral meningocele syndrome skos:exactMatch mesh:C537878 semapv:UnspecifiedMatching MONDO:0007538 amelogenesis imperfecta, type 3A skos:broadMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:UnspecifiedMatching MONDO:0007538 amelogenesis imperfecta, type 3A skos:exactMatch DOID:0110055 amelogenesis imperfecta type 3A semapv:UnspecifiedMatching MONDO:0007538 amelogenesis imperfecta, type 3A skos:exactMatch OMIM:130900 amelogenesis imperfecta, iia 3a semapv:UnspecifiedMatching MONDO:0007538 amelogenesis imperfecta, type 3A skos:exactMatch SCTID:109471001 semapv:UnspecifiedMatching MONDO:0007538 amelogenesis imperfecta, type 3A skos:exactMatch mesh:C562880 semapv:UnspecifiedMatching MONDO:0007539 encephalopathy, recurrent, of childhood skos:exactMatch OMIM:130950 encephalopathy, recurrent, of childhood semapv:UnspecifiedMatching MONDO:0007539 encephalopathy, recurrent, of childhood skos:exactMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:UnspecifiedMatching MONDO:0007539 encephalopathy, recurrent, of childhood skos:exactMatch mesh:C536407 semapv:UnspecifiedMatching MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch DOID:10017 multiple endocrine neoplasia type 1 semapv:UnspecifiedMatching MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch NCIT:C3225 Multiple Endocrine Neoplasia Type 1 semapv:UnspecifiedMatching MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch OMIM:131100 multiple endocrine neoplasia, iia 1 semapv:UnspecifiedMatching MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:UnspecifiedMatching MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch SCTID:30664006 semapv:UnspecifiedMatching MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch UMLS:C0025267 semapv:UnspecifiedMatching MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch mesh:D018761 semapv:UnspecifiedMatching MONDO:0007541 endometriosis, susceptibility to, 1 skos:exactMatch OMIM:131200 endometriosis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0007542 Camurati-Engelmann disease skos:exactMatch DOID:4997 Camurati-Engelmann disease semapv:UnspecifiedMatching MONDO:0007542 Camurati-Engelmann disease skos:exactMatch NCIT:C84610 Camurati-Engelmann Syndrome semapv:UnspecifiedMatching MONDO:0007542 Camurati-Engelmann disease skos:exactMatch OMIM:131300 camurati-engelmann disease semapv:UnspecifiedMatching MONDO:0007542 Camurati-Engelmann disease skos:exactMatch Orphanet:1328 Camurati-Engelmann disease semapv:UnspecifiedMatching MONDO:0007542 Camurati-Engelmann disease skos:exactMatch SCTID:318761000119105 semapv:UnspecifiedMatching MONDO:0007542 Camurati-Engelmann disease skos:exactMatch UMLS:C0011989 semapv:UnspecifiedMatching MONDO:0007543 obsolete enolase, sperm specific skos:exactMatch OMIM:131375 ENO4 semapv:UnspecifiedMatching MONDO:0007544 eosinophilia, familial skos:exactMatch OMIM:131400 eosinophilia, familial semapv:UnspecifiedMatching MONDO:0007544 eosinophilia, familial skos:exactMatch SCTID:79336007 semapv:UnspecifiedMatching MONDO:0007544 eosinophilia, familial skos:exactMatch mesh:C562722 semapv:UnspecifiedMatching MONDO:0007545 Eosinophilopenia skos:exactMatch OMIM:131430 eosinophilopenia semapv:UnspecifiedMatching MONDO:0007545 Eosinophilopenia skos:exactMatch UMLS:C1851586 semapv:UnspecifiedMatching MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:exactMatch DOID:0111344 myeloproliferative disorder with eosinophilia semapv:UnspecifiedMatching MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:exactMatch OMIM:131440 myeloproliferative disorder, chronic, with eosinophilia semapv:UnspecifiedMatching MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:exactMatch UMLS:C1851585 semapv:UnspecifiedMatching MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:exactMatch mesh:C565054 semapv:UnspecifiedMatching MONDO:0007547 epidermoid cysts skos:exactMatch NCIT:C3134 Epidermal Inclusion Cyst semapv:UnspecifiedMatching MONDO:0007547 epidermoid cysts skos:exactMatch OMIM:131600 epidermoid cysts semapv:UnspecifiedMatching MONDO:0007547 epidermoid cysts skos:exactMatch SCTID:419893006 semapv:UnspecifiedMatching MONDO:0007547 epidermoid cysts skos:exactMatch mesh:D004814 semapv:UnspecifiedMatching MONDO:0007548 transient bullous dermolysis of the newborn skos:exactMatch DOID:0111345 transient bullous dermolysis of the newborn semapv:UnspecifiedMatching MONDO:0007548 transient bullous dermolysis of the newborn skos:exactMatch OMIM:131705 transient bullous dermolysis of the newborn semapv:UnspecifiedMatching MONDO:0007548 transient bullous dermolysis of the newborn skos:exactMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0007548 transient bullous dermolysis of the newborn skos:exactMatch UMLS:C1851573 semapv:UnspecifiedMatching MONDO:0007548 transient bullous dermolysis of the newborn skos:exactMatch mesh:C536979 semapv:UnspecifiedMatching MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:exactMatch DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:exactMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:UnspecifiedMatching MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:exactMatch Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:exactMatch SCTID:75875004 semapv:UnspecifiedMatching MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:exactMatch DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type semapv:UnspecifiedMatching MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:exactMatch OMIM:131760 epidermolysis bullosa simplex 1a, generalized severe semapv:UnspecifiedMatching MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:exactMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:UnspecifiedMatching MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:exactMatch SCTID:254179000 semapv:UnspecifiedMatching MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:exactMatch DOID:0080510 epidermolysis bullosa simplex localized type semapv:UnspecifiedMatching MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:exactMatch OMIM:131800 epidermolysis bullosa simplex 1c, localized semapv:UnspecifiedMatching MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:exactMatch Orphanet:79400 Localized epidermolysis bullosa simplex semapv:UnspecifiedMatching MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:exactMatch SCTID:294705005 semapv:UnspecifiedMatching MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:exactMatch DOID:0080988 pretibial dystrophic epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:exactMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:UnspecifiedMatching MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:exactMatch Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form semapv:UnspecifiedMatching MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:exactMatch SCTID:67653003 semapv:UnspecifiedMatching MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:exactMatch mesh:C535494 semapv:UnspecifiedMatching MONDO:0007553 epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase skos:exactMatch OMIM:131880 epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase semapv:UnspecifiedMatching MONDO:0007553 epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase skos:exactMatch UMLS:C1851570 semapv:UnspecifiedMatching MONDO:0007553 epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase skos:exactMatch mesh:C565049 semapv:UnspecifiedMatching MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:exactMatch DOID:0080511 epidermolysis bullosa simplex generalized type semapv:UnspecifiedMatching MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:exactMatch OMIM:131900 epidermolysis bullosa simplex 1b, generalized intermediate semapv:UnspecifiedMatching MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:exactMatch Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form semapv:UnspecifiedMatching MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:exactMatch SCTID:90496008 semapv:UnspecifiedMatching MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:exactMatch DOID:0060736 epidermolysis bullosa simplex Ogna type semapv:UnspecifiedMatching MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:exactMatch OMIM:131950 epidermolysis bullosa simplex 5a, ogna iia semapv:UnspecifiedMatching MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:exactMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:UnspecifiedMatching MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:exactMatch SCTID:398071000 semapv:UnspecifiedMatching MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:exactMatch mesh:C535962 semapv:UnspecifiedMatching MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:exactMatch DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation semapv:UnspecifiedMatching MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:exactMatch OMIM:131960 epidermolysis bullosa simplex 2f, with mottled pigmentation semapv:UnspecifiedMatching MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:exactMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:UnspecifiedMatching MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:exactMatch SCTID:254180002 semapv:UnspecifiedMatching MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:exactMatch mesh:C535959 semapv:UnspecifiedMatching MONDO:0007557 epidermolysis bullosa with congenital localized absence of skin and deformity of nails skos:exactMatch DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails semapv:UnspecifiedMatching MONDO:0007557 epidermolysis bullosa with congenital localized absence of skin and deformity of nails skos:exactMatch OMIM:132000 epidermolysis bullosa with congenital localized absence of skin and deformity of nails semapv:UnspecifiedMatching MONDO:0007557 epidermolysis bullosa with congenital localized absence of skin and deformity of nails skos:exactMatch SCTID:2689001 semapv:UnspecifiedMatching MONDO:0007557 epidermolysis bullosa with congenital localized absence of skin and deformity of nails skos:exactMatch mesh:C562638 semapv:UnspecifiedMatching MONDO:0007558 benign occipital epilepsy skos:exactMatch OMIM:132090 epilepsy, benign occipital semapv:UnspecifiedMatching MONDO:0007558 benign occipital epilepsy skos:exactMatch Orphanet:25968 Benign occipital epilepsy semapv:UnspecifiedMatching MONDO:0007558 benign occipital epilepsy skos:exactMatch UMLS:C1851549 semapv:UnspecifiedMatching MONDO:0007559 photoparoxysmal response 1 skos:exactMatch OMIM:132100 photoparoxysmal response 1 semapv:UnspecifiedMatching MONDO:0007559 photoparoxysmal response 1 skos:exactMatch UMLS:C1868677 semapv:UnspecifiedMatching MONDO:0007560 reading seizures skos:exactMatch OMIM:132300 epilepsy, reading semapv:UnspecifiedMatching MONDO:0007560 reading seizures skos:exactMatch Orphanet:166433 Reading seizures semapv:UnspecifiedMatching MONDO:0007560 reading seizures skos:exactMatch UMLS:C0278193 semapv:UnspecifiedMatching MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:exactMatch DOID:0070303 multiple epiphyseal dysplasia 1 semapv:UnspecifiedMatching MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:exactMatch OMIM:132400 epiphyseal dysplasia, multiple, 1 semapv:UnspecifiedMatching MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:exactMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:UnspecifiedMatching MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:exactMatch SCTID:715673002 semapv:UnspecifiedMatching MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:exactMatch UMLS:C1838280 semapv:UnspecifiedMatching MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:exactMatch DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness semapv:UnspecifiedMatching MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:exactMatch OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness semapv:UnspecifiedMatching MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:exactMatch Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type semapv:UnspecifiedMatching MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:exactMatch SCTID:719689005 semapv:UnspecifiedMatching MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:exactMatch mesh:C565046 semapv:UnspecifiedMatching MONDO:0007564 pilomatrixoma skos:exactMatch DOID:5374 pilomatrixoma semapv:UnspecifiedMatching MONDO:0007564 pilomatrixoma skos:exactMatch NCIT:C7368 Pilomatricoma semapv:UnspecifiedMatching MONDO:0007564 pilomatrixoma skos:exactMatch OMIM:132600 pilomatrixoma semapv:UnspecifiedMatching MONDO:0007564 pilomatrixoma skos:exactMatch Orphanet:91414 Pilomatrixoma semapv:UnspecifiedMatching MONDO:0007564 pilomatrixoma skos:exactMatch SCTID:274901004 semapv:UnspecifiedMatching MONDO:0007564 pilomatrixoma skos:exactMatch UMLS:C0206711 semapv:UnspecifiedMatching MONDO:0007564 pilomatrixoma skos:exactMatch mesh:D018296 semapv:UnspecifiedMatching MONDO:0007565 familial cylindromatosis skos:exactMatch NCIT:C43352 Turban Tumor semapv:UnspecifiedMatching MONDO:0007565 familial cylindromatosis skos:exactMatch OMIM:132700 cylindromatosis, familial semapv:UnspecifiedMatching MONDO:0007565 familial cylindromatosis skos:exactMatch Orphanet:211 Familial cylindromatosis semapv:UnspecifiedMatching MONDO:0007565 familial cylindromatosis skos:exactMatch mesh:C536611 semapv:UnspecifiedMatching MONDO:0007566 multiple self-healing squamous epithelioma skos:exactMatch DOID:5585 Ferguson-Smith tumor semapv:UnspecifiedMatching MONDO:0007566 multiple self-healing squamous epithelioma skos:exactMatch NCIT:C4461 Multiple Self Healing Epithelioma of Ferguson-Smith semapv:UnspecifiedMatching MONDO:0007566 multiple self-healing squamous epithelioma skos:exactMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:UnspecifiedMatching MONDO:0007566 multiple self-healing squamous epithelioma skos:exactMatch Orphanet:65748 Multiple self-healing squamous epithelioma semapv:UnspecifiedMatching MONDO:0007566 multiple self-healing squamous epithelioma skos:exactMatch SCTID:254659009 semapv:UnspecifiedMatching MONDO:0007566 multiple self-healing squamous epithelioma skos:exactMatch UMLS:C0546476 semapv:UnspecifiedMatching MONDO:0007566 multiple self-healing squamous epithelioma skos:exactMatch mesh:C536150 semapv:UnspecifiedMatching MONDO:0007567 obsolete Epstein-Barr virus insertion site 1 skos:exactMatch OMIM:132850 epstein-barr virus insertion site 1 semapv:UnspecifiedMatching MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:exactMatch OMIM:132900 aortic aneurysm, familial thoracic 4 semapv:UnspecifiedMatching MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:exactMatch UMLS:C1851504 semapv:UnspecifiedMatching MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:exactMatch mesh:C537784 semapv:UnspecifiedMatching MONDO:0007569 erythema nodosum, familial skos:exactMatch OMIM:132990 erythema nodosum, familial semapv:UnspecifiedMatching MONDO:0007569 erythema nodosum, familial skos:exactMatch UMLS:C1851503 semapv:UnspecifiedMatching MONDO:0007569 erythema nodosum, familial skos:exactMatch mesh:C535510 semapv:UnspecifiedMatching MONDO:0007570 erythema palmare hereditarium skos:exactMatch OMIM:133000 erythema palmare hereditarium semapv:UnspecifiedMatching MONDO:0007570 erythema palmare hereditarium skos:exactMatch Orphanet:231031 Erythema palmare hereditarium semapv:UnspecifiedMatching MONDO:0007570 erythema palmare hereditarium skos:exactMatch SCTID:763767006 semapv:UnspecifiedMatching MONDO:0007570 erythema palmare hereditarium skos:exactMatch UMLS:C1851502 semapv:UnspecifiedMatching MONDO:0007570 erythema palmare hereditarium skos:exactMatch mesh:C565041 semapv:UnspecifiedMatching MONDO:0007571 primary erythermalgia skos:exactMatch NCIT:C125383 Primary Erythromelalgia semapv:UnspecifiedMatching MONDO:0007571 primary erythermalgia skos:exactMatch OMIM:133020 erythermalgia, primary semapv:UnspecifiedMatching MONDO:0007571 primary erythermalgia skos:exactMatch Orphanet:90026 Primary erythromelalgia semapv:UnspecifiedMatching MONDO:0007571 primary erythermalgia skos:exactMatch SCTID:709489006 semapv:UnspecifiedMatching MONDO:0007571 primary erythermalgia skos:exactMatch UMLS:C0014805 semapv:UnspecifiedMatching MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch DOID:0060652 familial erythrocytosis 1 semapv:UnspecifiedMatching MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch OMIM:133100 erythrocytosis, familial, 1 semapv:UnspecifiedMatching MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch Orphanet:90042 Primary familial polycythemia semapv:UnspecifiedMatching MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch SCTID:17342003 semapv:UnspecifiedMatching MONDO:0007573 erythroleukemia, familial, susceptibility to skos:exactMatch OMIM:133180 erythroleukemia, familial, susceptibility to semapv:UnspecifiedMatching MONDO:0007573 erythroleukemia, familial, susceptibility to skos:exactMatch mesh:C565039 semapv:UnspecifiedMatching MONDO:0007574 spinocerebellar ataxia type 34 skos:exactMatch DOID:0050981 spinocerebellar ataxia type 34 semapv:UnspecifiedMatching MONDO:0007574 spinocerebellar ataxia type 34 skos:exactMatch OMIM:133190 spinocerebellar ataxia 34 semapv:UnspecifiedMatching MONDO:0007574 spinocerebellar ataxia type 34 skos:exactMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:UnspecifiedMatching MONDO:0007574 spinocerebellar ataxia type 34 skos:exactMatch SCTID:719255000 semapv:UnspecifiedMatching MONDO:0007574 spinocerebellar ataxia type 34 skos:exactMatch UMLS:C1851481 semapv:UnspecifiedMatching MONDO:0007574 spinocerebellar ataxia type 34 skos:exactMatch mesh:C535738 semapv:UnspecifiedMatching MONDO:0007576 esophageal cancer skos:exactMatch DOID:5041 esophageal cancer semapv:UnspecifiedMatching MONDO:0007576 esophageal cancer skos:exactMatch NCIT:C7478 Malignant Esophageal Neoplasm semapv:UnspecifiedMatching MONDO:0007576 esophageal cancer skos:exactMatch OMIM:133239 esophageal cancer semapv:UnspecifiedMatching MONDO:0007576 esophageal cancer skos:exactMatch SCTID:363402007 semapv:UnspecifiedMatching MONDO:0007576 esophageal cancer skos:exactMatch UMLS:C0546837 semapv:UnspecifiedMatching MONDO:0007577 esophageal ring, lower skos:exactMatch OMIM:133240 esophageal ring, lower semapv:UnspecifiedMatching MONDO:0007577 esophageal ring, lower skos:exactMatch SCTID:235623002 semapv:UnspecifiedMatching MONDO:0007577 esophageal ring, lower skos:exactMatch UMLS:C0341137 semapv:UnspecifiedMatching MONDO:0007577 esophageal ring, lower skos:exactMatch mesh:C562765 semapv:UnspecifiedMatching MONDO:0007578 obsolete esterase B skos:exactMatch OMIM:133260 esterase B semapv:UnspecifiedMatching MONDO:0007578 obsolete esterase B skos:exactMatch mesh:C049262 semapv:UnspecifiedMatching MONDO:0007579 obsolete esterase C skos:exactMatch OMIM:133270 esterase c semapv:UnspecifiedMatching MONDO:0007580 obsolete esterase ES-2, regulator for skos:exactMatch OMIM:133300 esterase es-2, regulator for semapv:UnspecifiedMatching MONDO:0007581 exchondrosis of pinna, posterior skos:exactMatch OMIM:133500 exchondrosis of pinna, posterior semapv:UnspecifiedMatching MONDO:0007581 exchondrosis of pinna, posterior skos:exactMatch UMLS:C1851463 semapv:UnspecifiedMatching MONDO:0007581 exchondrosis of pinna, posterior skos:exactMatch mesh:C565036 semapv:UnspecifiedMatching MONDO:0007583 obsolete exostoses of heel skos:exactMatch OMIM:133600 exostoses of heel semapv:UnspecifiedMatching MONDO:0007583 obsolete exostoses of heel skos:exactMatch UMLS:C0877431 semapv:UnspecifiedMatching MONDO:0007583 obsolete exostoses of heel skos:exactMatch mesh:C563167 semapv:UnspecifiedMatching MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:exactMatch OMIM:133690 exostoses with anetodermia and brachydactyly, iia e semapv:UnspecifiedMatching MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:exactMatch Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome semapv:UnspecifiedMatching MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:exactMatch UMLS:C1851428 semapv:UnspecifiedMatching MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:exactMatch mesh:C565034 semapv:UnspecifiedMatching MONDO:0007585 exostoses, multiple, type 1 skos:exactMatch OMIM:133700 exostoses, multiple, iia 1 semapv:UnspecifiedMatching MONDO:0007586 exostoses, multiple, type 2 skos:exactMatch NCIT:C18252 EXT2 Gene semapv:UnspecifiedMatching MONDO:0007586 exostoses, multiple, type 2 skos:exactMatch OMIM:133701 exostoses, multiple, iia 2 semapv:UnspecifiedMatching MONDO:0007586 exostoses, multiple, type 2 skos:exactMatch UMLS:C1851413 semapv:UnspecifiedMatching MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:exactMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:UnspecifiedMatching MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:exactMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:UnspecifiedMatching MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:exactMatch UMLS:C1876181 semapv:UnspecifiedMatching MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:exactMatch OMIM:133750 extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly semapv:UnspecifiedMatching MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:exactMatch Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:UnspecifiedMatching MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:exactMatch UMLS:C1851412 semapv:UnspecifiedMatching MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:exactMatch mesh:C565032 semapv:UnspecifiedMatching MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch DOID:0111412 exudative vitreoretinopathy 1 semapv:UnspecifiedMatching MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch NCIT:C175048 Exudative Vitreoretinopathy 1 semapv:UnspecifiedMatching MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:UnspecifiedMatching MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch UMLS:C1851402 semapv:UnspecifiedMatching MONDO:0007589 exudative vitreoretinopathy 1 skos:exactMatch mesh:C536382 semapv:UnspecifiedMatching MONDO:0007590 hemifacial hypertrophy skos:exactMatch OMIM:133900 hemifacial hyperplasia semapv:UnspecifiedMatching MONDO:0007590 hemifacial hypertrophy skos:exactMatch Orphanet:141145 Hemifacial hyperplasia semapv:UnspecifiedMatching MONDO:0007590 hemifacial hypertrophy skos:exactMatch UMLS:C1399354 semapv:UnspecifiedMatching MONDO:0007591 obsolete facial hypertrichosis skos:exactMatch OMIM:134000 facial hypertrichosis semapv:UnspecifiedMatching MONDO:0007591 obsolete facial hypertrichosis skos:exactMatch mesh:C565029 semapv:UnspecifiedMatching MONDO:0007592 familial recurrent peripheral facial palsy skos:exactMatch OMIM:134200 facial palsy, familial recurrent peripheral semapv:UnspecifiedMatching MONDO:0007592 familial recurrent peripheral facial palsy skos:exactMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:UnspecifiedMatching MONDO:0007592 familial recurrent peripheral facial palsy skos:exactMatch UMLS:C1851399 semapv:UnspecifiedMatching MONDO:0007592 familial recurrent peripheral facial palsy skos:exactMatch mesh:C565028 semapv:UnspecifiedMatching MONDO:0007593 facial spasm skos:exactMatch OMIM:134300 facial spasm semapv:UnspecifiedMatching MONDO:0007594 factor 5 excess with spontaneous thrombosis skos:exactMatch OMIM:134400 factor 5 excess with spontaneous thrombosis semapv:UnspecifiedMatching MONDO:0007594 factor 5 excess with spontaneous thrombosis skos:exactMatch UMLS:C1851378 semapv:UnspecifiedMatching MONDO:0007594 factor 5 excess with spontaneous thrombosis skos:exactMatch mesh:C565026 semapv:UnspecifiedMatching MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:exactMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:UnspecifiedMatching MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:exactMatch UMLS:C1851377 semapv:UnspecifiedMatching MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:exactMatch mesh:C565025 semapv:UnspecifiedMatching MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:exactMatch OMIM:134510 factor 8 and factor ix, combined deficiency of semapv:UnspecifiedMatching MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:exactMatch UMLS:C1851376 semapv:UnspecifiedMatching MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:exactMatch mesh:C565024 semapv:UnspecifiedMatching MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:exactMatch OMIM:134520 factors viii, 9 and xi, combined deficiency of semapv:UnspecifiedMatching MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:exactMatch UMLS:C1851375 semapv:UnspecifiedMatching MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:exactMatch mesh:C565023 semapv:UnspecifiedMatching MONDO:0007599 factor 9 and Factor XI, combined deficiency of skos:exactMatch OMIM:134540 factor 9 and factor xi, combined deficiency of semapv:UnspecifiedMatching MONDO:0007599 factor 9 and Factor XI, combined deficiency of skos:exactMatch UMLS:C1851374 semapv:UnspecifiedMatching MONDO:0007599 factor 9 and Factor XI, combined deficiency of skos:exactMatch mesh:C565022 semapv:UnspecifiedMatching MONDO:0007600 primary Fanconi syndrome skos:exactMatch NCIT:C123229 Primary Fanconi Syndrome semapv:UnspecifiedMatching MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:exactMatch OMIM:134610 familial mediterranean fever, autosomal dominant semapv:UnspecifiedMatching MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:exactMatch UMLS:C1851347 semapv:UnspecifiedMatching MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:exactMatch mesh:C565021 semapv:UnspecifiedMatching MONDO:0007602 obsolete favism, susceptibility to skos:exactMatch OMIM:134700 semapv:UnspecifiedMatching MONDO:0007603 Felty syndrome skos:exactMatch DOID:11042 Felty's syndrome semapv:UnspecifiedMatching MONDO:0007603 Felty syndrome skos:exactMatch NCIT:C84712 Felty Syndrome semapv:UnspecifiedMatching MONDO:0007603 Felty syndrome skos:exactMatch OMIM:134750 felty syndrome semapv:UnspecifiedMatching MONDO:0007603 Felty syndrome skos:exactMatch Orphanet:47612 Felty syndrome semapv:UnspecifiedMatching MONDO:0007603 Felty syndrome skos:exactMatch SCTID:57160007 semapv:UnspecifiedMatching MONDO:0007603 Felty syndrome skos:exactMatch UMLS:C0015773 semapv:UnspecifiedMatching MONDO:0007603 Felty syndrome skos:exactMatch mesh:D005258 semapv:UnspecifiedMatching MONDO:0007604 femoral-facial syndrome skos:exactMatch OMIM:134780 femoral-facial syndrome semapv:UnspecifiedMatching MONDO:0007604 femoral-facial syndrome skos:exactMatch Orphanet:1988 Femoral-facial syndrome semapv:UnspecifiedMatching MONDO:0007604 femoral-facial syndrome skos:exactMatch SCTID:13280000 semapv:UnspecifiedMatching MONDO:0007604 femoral-facial syndrome skos:exactMatch mesh:C537916 semapv:UnspecifiedMatching MONDO:0007605 fibrinolytic defect skos:exactMatch OMIM:134900 fibrinolytic defect semapv:UnspecifiedMatching MONDO:0007605 fibrinolytic defect skos:exactMatch UMLS:C1851184 semapv:UnspecifiedMatching MONDO:0007605 fibrinolytic defect skos:exactMatch mesh:C565017 semapv:UnspecifiedMatching MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch DOID:13374 fibrodysplasia ossificans progressiva semapv:UnspecifiedMatching MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch NCIT:C3040 Fibrodysplasia Ossificans Progressiva semapv:UnspecifiedMatching MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch OMIM:135100 fibrodysplasia ossificans progressiva semapv:UnspecifiedMatching MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:UnspecifiedMatching MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch SCTID:82725007 semapv:UnspecifiedMatching MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch UMLS:C0016037 semapv:UnspecifiedMatching MONDO:0007608 desmoid tumor skos:exactMatch DOID:0080366 desmoid tumor semapv:UnspecifiedMatching MONDO:0007608 desmoid tumor skos:exactMatch NCIT:C9182 Desmoid Fibromatosis semapv:UnspecifiedMatching MONDO:0007608 desmoid tumor skos:exactMatch OMIM:135290 desmoid disease, hereditary semapv:UnspecifiedMatching MONDO:0007608 desmoid tumor skos:exactMatch Orphanet:873 Desmoid tumor semapv:UnspecifiedMatching MONDO:0007608 desmoid tumor skos:exactMatch UMLS:C0079218 semapv:UnspecifiedMatching MONDO:0007609 fibromatosis, gingival, 1 skos:exactMatch OMIM:135300 fibromatosis, gingival, 1 semapv:UnspecifiedMatching MONDO:0007609 fibromatosis, gingival, 1 skos:exactMatch UMLS:C4551558 semapv:UnspecifiedMatching MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:exactMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:UnspecifiedMatching MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:exactMatch Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome semapv:UnspecifiedMatching MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:exactMatch SCTID:716008002 semapv:UnspecifiedMatching MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:exactMatch mesh:C565016 semapv:UnspecifiedMatching MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:exactMatch OMIM:135550 fibromatosis, gingival, with progressive deafness semapv:UnspecifiedMatching MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:exactMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:UnspecifiedMatching MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:exactMatch SCTID:722449007 semapv:UnspecifiedMatching MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:exactMatch UMLS:C1851112 semapv:UnspecifiedMatching MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:exactMatch mesh:C535886 semapv:UnspecifiedMatching MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch DOID:0080143 congenital fibrosis of the extraocular muscles semapv:UnspecifiedMatching MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch OMIMPS:135700 semapv:UnspecifiedMatching MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:UnspecifiedMatching MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch SCTID:400946004 semapv:UnspecifiedMatching MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch UMLS:C1302995 semapv:UnspecifiedMatching MONDO:0007615 laurin-Sandrow syndrome skos:exactMatch DOID:0111350 Laurin-Sandrow syndrome semapv:UnspecifiedMatching MONDO:0007615 laurin-Sandrow syndrome skos:exactMatch OMIM:135750 laurin-sandrow syndrome semapv:UnspecifiedMatching MONDO:0007615 laurin-Sandrow syndrome skos:exactMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:UnspecifiedMatching MONDO:0007615 laurin-Sandrow syndrome skos:exactMatch SCTID:715440003 semapv:UnspecifiedMatching MONDO:0007615 laurin-Sandrow syndrome skos:exactMatch mesh:C535689 semapv:UnspecifiedMatching MONDO:0007616 fibula, recurrent dislocation of head of skos:exactMatch OMIM:135800 fibula, recurrent dislocation of head of semapv:UnspecifiedMatching MONDO:0007616 fibula, recurrent dislocation of head of skos:exactMatch UMLS:C1851099 semapv:UnspecifiedMatching MONDO:0007616 fibula, recurrent dislocation of head of skos:exactMatch mesh:C565011 semapv:UnspecifiedMatching MONDO:0007617 Coffin-Siris syndrome 1 skos:exactMatch DOID:0070042 Coffin-Siris syndrome 1 semapv:UnspecifiedMatching MONDO:0007617 Coffin-Siris syndrome 1 skos:exactMatch OMIM:135900 coffin-siris syndrome 1 semapv:UnspecifiedMatching MONDO:0007617 Coffin-Siris syndrome 1 skos:exactMatch UMLS:C3281201 semapv:UnspecifiedMatching MONDO:0007617 Coffin-Siris syndrome 1 skos:exactMatch mesh:C538391 semapv:UnspecifiedMatching MONDO:0007618 Eng-Strom syndrome skos:exactMatch OMIM:135950 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature semapv:UnspecifiedMatching MONDO:0007618 Eng-Strom syndrome skos:exactMatch Orphanet:1937 Eng-Strom syndrome semapv:UnspecifiedMatching MONDO:0007618 Eng-Strom syndrome skos:exactMatch UMLS:C1851081 semapv:UnspecifiedMatching MONDO:0007619 isolated congenital adermatoglyphia skos:exactMatch DOID:0111357 adermatoglyphia semapv:UnspecifiedMatching MONDO:0007619 isolated congenital adermatoglyphia skos:exactMatch OMIM:136000 adermatoglyphia semapv:UnspecifiedMatching MONDO:0007619 isolated congenital adermatoglyphia skos:exactMatch Orphanet:289465 Isolated congenital adermatoglyphia semapv:UnspecifiedMatching MONDO:0007619 isolated congenital adermatoglyphia skos:exactMatch SCTID:763748007 semapv:UnspecifiedMatching MONDO:0007619 isolated congenital adermatoglyphia skos:exactMatch mesh:C565010 semapv:UnspecifiedMatching MONDO:0007620 fish eye disease skos:exactMatch OMIM:136120 fish-eye disease semapv:UnspecifiedMatching MONDO:0007620 fish eye disease skos:exactMatch Orphanet:79292 Fish-eye disease semapv:UnspecifiedMatching MONDO:0007620 fish eye disease skos:exactMatch SCTID:238092004 semapv:UnspecifiedMatching MONDO:0007620 fish eye disease skos:exactMatch UMLS:C0342895 semapv:UnspecifiedMatching MONDO:0007621 Floating-Harbor syndrome skos:exactMatch DOID:0111358 Floating-Harbor syndrome semapv:UnspecifiedMatching MONDO:0007621 Floating-Harbor syndrome skos:exactMatch NCIT:C175241 Floating-Harbor Syndrome semapv:UnspecifiedMatching MONDO:0007621 Floating-Harbor syndrome skos:exactMatch OMIM:136140 floating-harbor syndrome semapv:UnspecifiedMatching MONDO:0007621 Floating-Harbor syndrome skos:exactMatch Orphanet:2044 Floating-Harbor syndrome semapv:UnspecifiedMatching MONDO:0007621 Floating-Harbor syndrome skos:exactMatch SCTID:312214005 semapv:UnspecifiedMatching MONDO:0007621 Floating-Harbor syndrome skos:exactMatch UMLS:C0729582 semapv:UnspecifiedMatching MONDO:0007621 Floating-Harbor syndrome skos:exactMatch mesh:C537062 semapv:UnspecifiedMatching MONDO:0007622 obsolete flood factor deficiency skos:exactMatch OMIM:136150 flood factor deficiency semapv:UnspecifiedMatching MONDO:0007622 obsolete flood factor deficiency skos:exactMatch UMLS:C1851056 semapv:UnspecifiedMatching MONDO:0007622 obsolete flood factor deficiency skos:exactMatch mesh:C565009 semapv:UnspecifiedMatching MONDO:0007623 flushing of ears and somnolence skos:exactMatch OMIM:136200 flushing of ears and somnolence semapv:UnspecifiedMatching MONDO:0007623 flushing of ears and somnolence skos:exactMatch UMLS:C1851055 semapv:UnspecifiedMatching MONDO:0007624 Flynn-Aird syndrome skos:exactMatch OMIM:136300 flynn-aird syndrome semapv:UnspecifiedMatching MONDO:0007624 Flynn-Aird syndrome skos:exactMatch Orphanet:2047 Flynn-Aird syndrome semapv:UnspecifiedMatching MONDO:0007624 Flynn-Aird syndrome skos:exactMatch SCTID:239056006 semapv:UnspecifiedMatching MONDO:0007624 Flynn-Aird syndrome skos:exactMatch UMLS:C0343108 semapv:UnspecifiedMatching MONDO:0007624 Flynn-Aird syndrome skos:exactMatch mesh:C537066 semapv:UnspecifiedMatching MONDO:0007625 focal epithelial hyperplasia of the oral mucosa skos:exactMatch OMIM:136400 focal epithelial hyperplasia of the oral mucosa semapv:UnspecifiedMatching MONDO:0007625 focal epithelial hyperplasia of the oral mucosa skos:exactMatch UMLS:C1851009 semapv:UnspecifiedMatching MONDO:0007625 focal epithelial hyperplasia of the oral mucosa skos:exactMatch mesh:C565008 semapv:UnspecifiedMatching MONDO:0007626 familial congenital palsy of trochlear nerve skos:exactMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:UnspecifiedMatching MONDO:0007626 familial congenital palsy of trochlear nerve skos:exactMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:UnspecifiedMatching MONDO:0007626 familial congenital palsy of trochlear nerve skos:exactMatch UMLS:C1850996 semapv:UnspecifiedMatching MONDO:0007626 familial congenital palsy of trochlear nerve skos:exactMatch mesh:C565007 semapv:UnspecifiedMatching MONDO:0007627 focal facial dermal dysplasia type I skos:exactMatch OMIM:136500 focal facial dermal dysplasia 1, brauer iia semapv:UnspecifiedMatching MONDO:0007627 focal facial dermal dysplasia type I skos:exactMatch Orphanet:79133 Focal facial dermal dysplasia type I semapv:UnspecifiedMatching MONDO:0007627 focal facial dermal dysplasia type I skos:exactMatch UMLS:C5235196 semapv:UnspecifiedMatching MONDO:0007628 foveal hypoplasia 1 skos:exactMatch OMIM:136520 foveal hypoplasia 1 semapv:UnspecifiedMatching MONDO:0007628 foveal hypoplasia 1 skos:exactMatch UMLS:C3805604 semapv:UnspecifiedMatching MONDO:0007629 fragile site 10Q23 skos:exactMatch OMIM:136540 fragile site 10q23 semapv:UnspecifiedMatching MONDO:0007629 fragile site 10Q23 skos:exactMatch UMLS:C1850987 semapv:UnspecifiedMatching MONDO:0007630 North Carolina macular dystrophy skos:exactMatch OMIM:136550 macular dystrophy, retinal, 1, north carolina iia semapv:UnspecifiedMatching MONDO:0007630 North Carolina macular dystrophy skos:exactMatch Orphanet:75327 North Carolina macular dystrophy semapv:UnspecifiedMatching MONDO:0007630 North Carolina macular dystrophy skos:exactMatch SCTID:312925009 semapv:UnspecifiedMatching MONDO:0007630 North Carolina macular dystrophy skos:exactMatch UMLS:C0730294 semapv:UnspecifiedMatching MONDO:0007630 North Carolina macular dystrophy skos:exactMatch mesh:C537835 semapv:UnspecifiedMatching MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:exactMatch DOID:0060399 chromosome 16p12.1 deletion syndrome semapv:UnspecifiedMatching MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:exactMatch NCIT:C129875 Chromosome 16p12.1 Deletion Syndrome semapv:UnspecifiedMatching MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:exactMatch OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb semapv:UnspecifiedMatching MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:exactMatch mesh:C565001 semapv:UnspecifiedMatching MONDO:0007632 obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) skos:exactMatch OMIM:136580 fragile site, distamycin a type, rare, fra(16)(q22.1) semapv:UnspecifiedMatching MONDO:0007633 Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness skos:exactMatch OMIM:136600 friedreich ataxia, so-called, with optic atrophy and sensorineural deafness semapv:UnspecifiedMatching MONDO:0007633 Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness skos:exactMatch UMLS:C1850982 semapv:UnspecifiedMatching MONDO:0007633 Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness skos:exactMatch mesh:C564999 semapv:UnspecifiedMatching MONDO:0007634 intellectual disability, FRA12A type skos:exactMatch OMIM:136630 intellectual developmental disorder, fra12a iia semapv:UnspecifiedMatching MONDO:0007634 intellectual disability, FRA12A type skos:exactMatch UMLS:C1969893 semapv:UnspecifiedMatching MONDO:0007634 intellectual disability, FRA12A type skos:exactMatch mesh:C566980 semapv:UnspecifiedMatching MONDO:0007635 Frasier syndrome skos:exactMatch DOID:0050438 Frasier syndrome semapv:UnspecifiedMatching MONDO:0007635 Frasier syndrome skos:exactMatch NCIT:C122805 Frasier Syndrome semapv:UnspecifiedMatching MONDO:0007635 Frasier syndrome skos:exactMatch OMIM:136680 frasier syndrome semapv:UnspecifiedMatching MONDO:0007635 Frasier syndrome skos:exactMatch Orphanet:347 Frasier syndrome semapv:UnspecifiedMatching MONDO:0007635 Frasier syndrome skos:exactMatch SCTID:445431000 semapv:UnspecifiedMatching MONDO:0007635 Frasier syndrome skos:exactMatch UMLS:C0950122 semapv:UnspecifiedMatching MONDO:0007635 Frasier syndrome skos:exactMatch mesh:D052159 semapv:UnspecifiedMatching MONDO:0007636 frontorhiny skos:exactMatch DOID:0081045 frontonasal dysplasia 1 semapv:UnspecifiedMatching MONDO:0007636 frontorhiny skos:exactMatch NCIT:C129028 Frontonasal Dysplasia semapv:UnspecifiedMatching MONDO:0007636 frontorhiny skos:exactMatch OMIM:136760 frontonasal dysplasia 1 semapv:UnspecifiedMatching MONDO:0007636 frontorhiny skos:exactMatch Orphanet:391474 Frontorhiny semapv:UnspecifiedMatching MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 skos:exactMatch OMIM:136800 corneal dystrophy, fuchs endothelial, 1 semapv:UnspecifiedMatching MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 skos:exactMatch UMLS:C1850959 semapv:UnspecifiedMatching MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 skos:exactMatch mesh:C535478 semapv:UnspecifiedMatching MONDO:0007638 fucosidase regulator skos:exactMatch OMIM:136830 fucosidase regulator semapv:UnspecifiedMatching MONDO:0007639 fundus albipunctatus skos:exactMatch DOID:11105 fundus albipunctatus semapv:UnspecifiedMatching MONDO:0007639 fundus albipunctatus skos:exactMatch OMIM:136880 fundus albipunctatus semapv:UnspecifiedMatching MONDO:0007639 fundus albipunctatus skos:exactMatch Orphanet:227796 Fundus albipunctatus semapv:UnspecifiedMatching MONDO:0007639 fundus albipunctatus skos:exactMatch SCTID:68222009 semapv:UnspecifiedMatching MONDO:0007639 fundus albipunctatus skos:exactMatch mesh:C562733 semapv:UnspecifiedMatching MONDO:0007640 Sorsby fundus dystrophy skos:exactMatch DOID:0090114 Sorsby's fundus dystrophy semapv:UnspecifiedMatching MONDO:0007640 Sorsby fundus dystrophy skos:exactMatch OMIM:136900 sorsby fundus dystrophy semapv:UnspecifiedMatching MONDO:0007640 Sorsby fundus dystrophy skos:exactMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:UnspecifiedMatching MONDO:0007640 Sorsby fundus dystrophy skos:exactMatch SCTID:193410003 semapv:UnspecifiedMatching MONDO:0007640 Sorsby fundus dystrophy skos:exactMatch mesh:C564992 semapv:UnspecifiedMatching MONDO:0007641 obsolete Futcher line skos:exactMatch OMIM:137000 futcher line semapv:UnspecifiedMatching MONDO:0007642 isolated agenesis of gallbladder skos:exactMatch OMIM:137040 gallbladder, agenesis of semapv:UnspecifiedMatching MONDO:0007642 isolated agenesis of gallbladder skos:exactMatch Orphanet:440987 Isolated agenesis of gallbladder semapv:UnspecifiedMatching MONDO:0007642 isolated agenesis of gallbladder skos:exactMatch mesh:C562564 semapv:UnspecifiedMatching MONDO:0007643 gamma-A-globulin, defect in assembly of skos:exactMatch OMIM:137050 gamma-a-globulin, defect 1n assembly of semapv:UnspecifiedMatching MONDO:0007643 gamma-A-globulin, defect in assembly of skos:exactMatch UMLS:C1850934 semapv:UnspecifiedMatching MONDO:0007643 gamma-A-globulin, defect in assembly of skos:exactMatch mesh:C564991 semapv:UnspecifiedMatching MONDO:0007644 IgAD1 skos:exactMatch NCIT:C123434 Immunoglobulin A Deficiency 1 semapv:UnspecifiedMatching MONDO:0007644 IgAD1 skos:exactMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:UnspecifiedMatching MONDO:0007644 IgAD1 skos:exactMatch mesh:C536290 semapv:UnspecifiedMatching MONDO:0007645 obsolete gastric sneezing skos:exactMatch OMIM:137130 gastric sneezing semapv:UnspecifiedMatching MONDO:0007645 obsolete gastric sneezing skos:exactMatch UMLS:C1850930 semapv:UnspecifiedMatching MONDO:0007645 obsolete gastric sneezing skos:exactMatch mesh:C564990 semapv:UnspecifiedMatching MONDO:0007646 Gamstorp-Wohlfart syndrome skos:exactMatch DOID:0050526 Gamstorp-Wohlfart syndrome semapv:UnspecifiedMatching MONDO:0007646 Gamstorp-Wohlfart syndrome skos:exactMatch OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive semapv:UnspecifiedMatching MONDO:0007646 Gamstorp-Wohlfart syndrome skos:exactMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:UnspecifiedMatching MONDO:0007646 Gamstorp-Wohlfart syndrome skos:exactMatch SCTID:711406009 semapv:UnspecifiedMatching MONDO:0007646 Gamstorp-Wohlfart syndrome skos:exactMatch UMLS:C5700127 semapv:UnspecifiedMatching MONDO:0007647 gastric volvulus, intrathoracic skos:exactMatch OMIM:137210 gastric volvulus, intrathoracic semapv:UnspecifiedMatching MONDO:0007647 gastric volvulus, intrathoracic skos:exactMatch UMLS:C1850902 semapv:UnspecifiedMatching MONDO:0007647 gastric volvulus, intrathoracic skos:exactMatch mesh:C564989 semapv:UnspecifiedMatching MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch DOID:0080764 hereditary diffuse gastric cancer semapv:UnspecifiedMatching MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch NCIT:C43295 Hereditary Gastric Diffuse Adenocarcinoma semapv:UnspecifiedMatching MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:UnspecifiedMatching MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch SCTID:716859000 semapv:UnspecifiedMatching MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch UMLS:C1708349 semapv:UnspecifiedMatching MONDO:0007649 obsolete gastric juice peptides skos:exactMatch OMIM:137220 gastric juice peptides semapv:UnspecifiedMatching MONDO:0007650 MALT lymphoma skos:exactMatch DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue semapv:UnspecifiedMatching MONDO:0007650 MALT lymphoma skos:exactMatch NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue semapv:UnspecifiedMatching MONDO:0007650 MALT lymphoma skos:exactMatch OMIM:137245 lymphoma, mucosa-associated lymphoid iia semapv:UnspecifiedMatching MONDO:0007650 MALT lymphoma skos:exactMatch Orphanet:52417 MALT lymphoma semapv:UnspecifiedMatching MONDO:0007650 MALT lymphoma skos:exactMatch SCTID:277622004 semapv:UnspecifiedMatching MONDO:0007650 MALT lymphoma skos:exactMatch UMLS:C0242647 semapv:UnspecifiedMatching MONDO:0007651 gastrocutaneous syndrome skos:exactMatch OMIM:137270 gastrocutaneous syndrome semapv:UnspecifiedMatching MONDO:0007651 gastrocutaneous syndrome skos:exactMatch Orphanet:2069 Gastrocutaneous syndrome semapv:UnspecifiedMatching MONDO:0007651 gastrocutaneous syndrome skos:exactMatch UMLS:C1850899 semapv:UnspecifiedMatching MONDO:0007651 gastrocutaneous syndrome skos:exactMatch mesh:C535651 semapv:UnspecifiedMatching MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch DOID:8757 gastric mucosal hypertrophy semapv:UnspecifiedMatching MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch NCIT:C67277 Giant Hypertrophic Gastritis semapv:UnspecifiedMatching MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch OMIM:137280 gastritis, familial giant hypertrophic semapv:UnspecifiedMatching MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch Orphanet:2494 Ménétrier disease semapv:UnspecifiedMatching MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch SCTID:60002000 semapv:UnspecifiedMatching MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch UMLS:C0017155 semapv:UnspecifiedMatching MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch mesh:D005758 semapv:UnspecifiedMatching MONDO:0007653 genochondromatosis skos:exactMatch OMIM:137360 genochondromatosis semapv:UnspecifiedMatching MONDO:0007653 genochondromatosis skos:exactMatch SCTID:389264005 semapv:UnspecifiedMatching MONDO:0007653 genochondromatosis skos:exactMatch UMLS:C1300229 semapv:UnspecifiedMatching MONDO:0007653 genochondromatosis skos:exactMatch mesh:C563215 semapv:UnspecifiedMatching MONDO:0007654 genu valgum, st. Helena familial skos:exactMatch OMIM:137370 genu valgum, st. helena familial semapv:UnspecifiedMatching MONDO:0007654 genu valgum, st. Helena familial skos:exactMatch UMLS:C1842052 semapv:UnspecifiedMatching MONDO:0007654 genu valgum, st. Helena familial skos:exactMatch mesh:C537685 semapv:UnspecifiedMatching MONDO:0007655 fissured tongue skos:exactMatch DOID:11514 fissured tongue semapv:UnspecifiedMatching MONDO:0007655 fissured tongue skos:exactMatch ICD10CM:K14.5 Plicated tongue semapv:UnspecifiedMatching MONDO:0007655 fissured tongue skos:exactMatch OMIM:137400 geographic and fissured tongue semapv:UnspecifiedMatching MONDO:0007655 fissured tongue skos:exactMatch SCTID:52368004 semapv:UnspecifiedMatching MONDO:0007655 fissured tongue skos:exactMatch UMLS:C4540616 semapv:UnspecifiedMatching MONDO:0007655 fissured tongue skos:exactMatch mesh:D014063 semapv:UnspecifiedMatching MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch DOID:4249 Gerstmann-Straussler-Scheinker syndrome semapv:UnspecifiedMatching MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch ICD10CM:A81.82 Gerstmann-Sträussler-Scheinker syndrome semapv:UnspecifiedMatching MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch NCIT:C84727 Gerstmann-Straussler-Scheinker Disease semapv:UnspecifiedMatching MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch OMIM:137440 gerstmann-straussler disease semapv:UnspecifiedMatching MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:UnspecifiedMatching MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch SCTID:67155006 semapv:UnspecifiedMatching MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch UMLS:C0017495 semapv:UnspecifiedMatching MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch mesh:C535800 semapv:UnspecifiedMatching MONDO:0007657 giant neutrophil leukocytes skos:exactMatch OMIM:137500 giant neutrophil leukocytes semapv:UnspecifiedMatching MONDO:0007657 giant neutrophil leukocytes skos:exactMatch UMLS:C1842039 semapv:UnspecifiedMatching MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia skos:exactMatch OMIM:137560 semapv:UnspecifiedMatching MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia skos:exactMatch UMLS:C1842035 semapv:UnspecifiedMatching MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia skos:exactMatch mesh:C564237 semapv:UnspecifiedMatching MONDO:0007660 familial ossifying fibroma skos:exactMatch OMIM:137575 gigantiform cementoma, familial semapv:UnspecifiedMatching MONDO:0007660 familial ossifying fibroma skos:exactMatch Orphanet:435329 Familial ossifying fibroma semapv:UnspecifiedMatching MONDO:0007660 familial ossifying fibroma skos:exactMatch UMLS:C3495361 semapv:UnspecifiedMatching MONDO:0007660 familial ossifying fibroma skos:exactMatch mesh:C563017 semapv:UnspecifiedMatching MONDO:0007661 Tourette syndrome skos:exactMatch DOID:11119 Gilles de la Tourette syndrome semapv:UnspecifiedMatching MONDO:0007661 Tourette syndrome skos:exactMatch NCIT:C35078 Tourette Syndrome semapv:UnspecifiedMatching MONDO:0007661 Tourette syndrome skos:exactMatch OMIM:137580 gilles lange 50a tourette syndrome semapv:UnspecifiedMatching MONDO:0007661 Tourette syndrome skos:exactMatch SCTID:5158005 semapv:UnspecifiedMatching MONDO:0007661 Tourette syndrome skos:exactMatch mesh:D005879 semapv:UnspecifiedMatching MONDO:0007662 anterior segment dysgenesis 4 skos:exactMatch DOID:0080609 anterior segment dysgenesis 4 semapv:UnspecifiedMatching MONDO:0007662 anterior segment dysgenesis 4 skos:exactMatch OMIM:137600 anterior segment dysgenesis 4 semapv:UnspecifiedMatching MONDO:0007662 anterior segment dysgenesis 4 skos:exactMatch UMLS:C1842031 semapv:UnspecifiedMatching MONDO:0007663 glaucoma with elevated episcleral venous pressure skos:exactMatch OMIM:137700 glaucoma with elevated episcleral venous pressure semapv:UnspecifiedMatching MONDO:0007663 glaucoma with elevated episcleral venous pressure skos:exactMatch UMLS:C1842030 semapv:UnspecifiedMatching MONDO:0007663 glaucoma with elevated episcleral venous pressure skos:exactMatch mesh:C564235 semapv:UnspecifiedMatching MONDO:0007664 glaucoma 1, open angle, A skos:exactMatch OMIM:137750 glaucoma 1, open angle, a semapv:UnspecifiedMatching MONDO:0007664 glaucoma 1, open angle, A skos:exactMatch UMLS:C1842028 semapv:UnspecifiedMatching MONDO:0007664 glaucoma 1, open angle, A skos:exactMatch mesh:C564234 semapv:UnspecifiedMatching MONDO:0007665 obsolete glaucoma 1, open angle, E skos:exactMatch DOID:1070 primary open angle glaucoma semapv:UnspecifiedMatching MONDO:0007665 obsolete glaucoma 1, open angle, E skos:exactMatch NCIT:C35394 Primary Open Angle Glaucoma semapv:UnspecifiedMatching MONDO:0007665 obsolete glaucoma 1, open angle, E skos:exactMatch OMIM:137760 glaucoma, primary open angle semapv:UnspecifiedMatching MONDO:0007665 obsolete glaucoma 1, open angle, E skos:exactMatch SCTID:77075001 semapv:UnspecifiedMatching MONDO:0007665 obsolete glaucoma 1, open angle, E skos:exactMatch mesh:C562750 semapv:UnspecifiedMatching MONDO:0007666 glaucoma-sleep apnea syndrome skos:exactMatch OMIM:137763 glaucoma and sleep apnea semapv:UnspecifiedMatching MONDO:0007666 glaucoma-sleep apnea syndrome skos:exactMatch Orphanet:2085 Glaucoma-sleep apnea syndrome semapv:UnspecifiedMatching MONDO:0007666 glaucoma-sleep apnea syndrome skos:exactMatch UMLS:C1842025 semapv:UnspecifiedMatching MONDO:0007666 glaucoma-sleep apnea syndrome skos:exactMatch mesh:C564232 semapv:UnspecifiedMatching MONDO:0007667 subependymoma skos:exactMatch DOID:4843 subependymal glioma semapv:UnspecifiedMatching MONDO:0007667 subependymoma skos:exactMatch NCIT:C3795 Subependymoma semapv:UnspecifiedMatching MONDO:0007667 subependymoma skos:exactMatch Orphanet:251639 Subependymoma semapv:UnspecifiedMatching MONDO:0007667 subependymoma skos:exactMatch UMLS:C0206725 semapv:UnspecifiedMatching MONDO:0007667 subependymoma skos:exactMatch mesh:D018315 semapv:UnspecifiedMatching MONDO:0007668 globulin anomaly involving beta (2A)-globulin skos:exactMatch OMIM:137900 globulin anomaly involving beta (2a)-globulin semapv:UnspecifiedMatching MONDO:0007668 globulin anomaly involving beta (2A)-globulin skos:exactMatch UMLS:C1842009 semapv:UnspecifiedMatching MONDO:0007668 globulin anomaly involving beta (2A)-globulin skos:exactMatch mesh:C564229 semapv:UnspecifiedMatching MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch DOID:0111101 maturity-onset diabetes of the young type 5 semapv:UnspecifiedMatching MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch NCIT:C123018 Renal Cysts and Diabetes Syndrome semapv:UnspecifiedMatching MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch OMIM:137920 renal cysts and diabetes syndrome semapv:UnspecifiedMatching MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:UnspecifiedMatching MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch SCTID:446641003 semapv:UnspecifiedMatching MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch UMLS:C0431693 semapv:UnspecifiedMatching MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch mesh:C535520 semapv:UnspecifiedMatching MONDO:0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) skos:exactMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:UnspecifiedMatching MONDO:0007671 fibronectin glomerulopathy skos:exactMatch OMIMPS:137950 semapv:UnspecifiedMatching MONDO:0007671 fibronectin glomerulopathy skos:exactMatch Orphanet:84090 Fibronectin glomerulopathy semapv:UnspecifiedMatching MONDO:0007671 fibronectin glomerulopathy skos:exactMatch SCTID:236535001 semapv:UnspecifiedMatching MONDO:0007671 fibronectin glomerulopathy skos:exactMatch mesh:C536826 semapv:UnspecifiedMatching MONDO:0007671 fibronectin glomerulopathy skos:exactMatch mesh:C562900 semapv:UnspecifiedMatching MONDO:0007672 glomuvenous malformation skos:exactMatch DOID:7996 familial glomangioma semapv:UnspecifiedMatching MONDO:0007672 glomuvenous malformation skos:exactMatch NCIT:C5350 Hereditary Glomangioma semapv:UnspecifiedMatching MONDO:0007672 glomuvenous malformation skos:exactMatch OMIM:138000 glomuvenous malformations semapv:UnspecifiedMatching MONDO:0007672 glomuvenous malformation skos:exactMatch Orphanet:83454 Glomuvenous malformation semapv:UnspecifiedMatching MONDO:0007672 glomuvenous malformation skos:exactMatch SCTID:715644000 semapv:UnspecifiedMatching MONDO:0007672 glomuvenous malformation skos:exactMatch UMLS:C1841984 semapv:UnspecifiedMatching MONDO:0007672 glomuvenous malformation skos:exactMatch mesh:C536827 semapv:UnspecifiedMatching MONDO:0007673 Glucoglycinuria skos:exactMatch OMIM:138070 glucoglycinuria semapv:UnspecifiedMatching MONDO:0007673 Glucoglycinuria skos:exactMatch UMLS:C0268536 semapv:UnspecifiedMatching MONDO:0007673 Glucoglycinuria skos:exactMatch mesh:C562670 semapv:UnspecifiedMatching MONDO:0007674 glucose-6-phosphate dehydrogenase-like skos:exactMatch OMIM:138110 glucose-6-phosphate dehydrogenase-like semapv:UnspecifiedMatching MONDO:0007675 glutamic acid decarboxylase, brain, membrane form skos:exactMatch OMIM:138277 glutamic acid decarboxylase, brain, membrane form semapv:UnspecifiedMatching MONDO:0007676 glutathione transferase activity toward trans-stilbene oxide skos:exactMatch OMIM:138340 glutathione transferase activity toward trans-stilbene oxide semapv:UnspecifiedMatching MONDO:0007677 hyperglycinuria skos:exactMatch OMIM:138500 hyperglycinuria semapv:UnspecifiedMatching MONDO:0007677 hyperglycinuria skos:exactMatch UMLS:C0543541 semapv:UnspecifiedMatching MONDO:0007677 hyperglycinuria skos:exactMatch mesh:C563009 semapv:UnspecifiedMatching MONDO:0007678 obsolete glycoprotein, renal skos:exactMatch OMIM:138710 glycoprotein, renal semapv:UnspecifiedMatching MONDO:0007679 GMS syndrome skos:exactMatch OMIM:138770 gms syndrome semapv:UnspecifiedMatching MONDO:0007679 GMS syndrome skos:exactMatch Orphanet:2090 GMS syndrome semapv:UnspecifiedMatching MONDO:0007679 GMS syndrome skos:exactMatch SCTID:716024001 semapv:UnspecifiedMatching MONDO:0007679 GMS syndrome skos:exactMatch UMLS:C1841854 semapv:UnspecifiedMatching MONDO:0007679 GMS syndrome skos:exactMatch mesh:C564214 semapv:UnspecifiedMatching MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:exactMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:UnspecifiedMatching MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:exactMatch Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome semapv:UnspecifiedMatching MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:exactMatch SCTID:723409007 semapv:UnspecifiedMatching MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:exactMatch UMLS:C1841853 semapv:UnspecifiedMatching MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:exactMatch mesh:C535986 semapv:UnspecifiedMatching MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:exactMatch OMIM:138800 goiter, multinodular 1, with or without sertoli-leydig cell tumors semapv:UnspecifiedMatching MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:exactMatch Orphanet:276399 Familial multinodular goiter semapv:UnspecifiedMatching MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:exactMatch SCTID:267369002 semapv:UnspecifiedMatching MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:exactMatch UMLS:C0302859 semapv:UnspecifiedMatching MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:exactMatch mesh:C562732 semapv:UnspecifiedMatching MONDO:0007682 granddad syndrome skos:exactMatch OMIM:138920 granddad syndrome semapv:UnspecifiedMatching MONDO:0007682 granddad syndrome skos:exactMatch UMLS:C1841836 semapv:UnspecifiedMatching MONDO:0007682 granddad syndrome skos:exactMatch mesh:C564211 semapv:UnspecifiedMatching MONDO:0007683 Grant syndrome skos:exactMatch OMIM:138930 grant syndrome semapv:UnspecifiedMatching MONDO:0007683 Grant syndrome skos:exactMatch Orphanet:2097 Grant syndrome semapv:UnspecifiedMatching MONDO:0007683 Grant syndrome skos:exactMatch SCTID:723827003 semapv:UnspecifiedMatching MONDO:0007683 Grant syndrome skos:exactMatch UMLS:C1841835 semapv:UnspecifiedMatching MONDO:0007683 Grant syndrome skos:exactMatch mesh:C537293 semapv:UnspecifiedMatching MONDO:0007685 granulosis rubra nasi skos:exactMatch OMIM:139000 granulosis rubra nasi semapv:UnspecifiedMatching MONDO:0007685 granulosis rubra nasi skos:exactMatch SCTID:22818000 semapv:UnspecifiedMatching MONDO:0007685 granulosis rubra nasi skos:exactMatch UMLS:C0263471 semapv:UnspecifiedMatching MONDO:0007685 granulosis rubra nasi skos:exactMatch mesh:C562483 semapv:UnspecifiedMatching MONDO:0007686 gray platelet syndrome skos:exactMatch DOID:0111044 gray platelet syndrome semapv:UnspecifiedMatching MONDO:0007686 gray platelet syndrome skos:exactMatch NCIT:C84741 Gray Platelet Syndrome semapv:UnspecifiedMatching MONDO:0007686 gray platelet syndrome skos:exactMatch OMIM:139090 gray platelet syndrome semapv:UnspecifiedMatching MONDO:0007686 gray platelet syndrome skos:exactMatch Orphanet:721 Gray platelet syndrome semapv:UnspecifiedMatching MONDO:0007686 gray platelet syndrome skos:exactMatch SCTID:51720005 semapv:UnspecifiedMatching MONDO:0007686 gray platelet syndrome skos:exactMatch UMLS:C0272302 semapv:UnspecifiedMatching MONDO:0007686 gray platelet syndrome skos:exactMatch mesh:D055652 semapv:UnspecifiedMatching MONDO:0007687 graying of hair, precocious skos:exactMatch OMIM:139100 graying of hair, precocious semapv:UnspecifiedMatching MONDO:0007687 graying of hair, precocious skos:exactMatch UMLS:C1841809 semapv:UnspecifiedMatching MONDO:0007687 graying of hair, precocious skos:exactMatch mesh:C564209 semapv:UnspecifiedMatching MONDO:0007688 Myhre syndrome skos:exactMatch NCIT:C123815 Myhre Syndrome semapv:UnspecifiedMatching MONDO:0007688 Myhre syndrome skos:exactMatch OMIM:139210 myhre syndrome semapv:UnspecifiedMatching MONDO:0007688 Myhre syndrome skos:exactMatch Orphanet:2588 Myhre syndrome semapv:UnspecifiedMatching MONDO:0007688 Myhre syndrome skos:exactMatch SCTID:699316006 semapv:UnspecifiedMatching MONDO:0007688 Myhre syndrome skos:exactMatch UMLS:C0796081 semapv:UnspecifiedMatching MONDO:0007688 Myhre syndrome skos:exactMatch mesh:C537620 semapv:UnspecifiedMatching MONDO:0007689 guanylate kinase 3 skos:exactMatch OMIM:139290 guanylate kinase 3 semapv:UnspecifiedMatching MONDO:0007690 aromatase excess syndrome skos:exactMatch DOID:0090122 aromatase excess syndrome semapv:UnspecifiedMatching MONDO:0007690 aromatase excess syndrome skos:exactMatch OMIM:139300 aromatase excess syndrome semapv:UnspecifiedMatching MONDO:0007690 aromatase excess syndrome skos:exactMatch Orphanet:178345 Aromatase excess syndrome semapv:UnspecifiedMatching MONDO:0007690 aromatase excess syndrome skos:exactMatch SCTID:709075008 semapv:UnspecifiedMatching MONDO:0007690 aromatase excess syndrome skos:exactMatch UMLS:C1970109 semapv:UnspecifiedMatching MONDO:0007690 aromatase excess syndrome skos:exactMatch mesh:C000591739 semapv:UnspecifiedMatching MONDO:0007691 Guillain-Barre syndrome, familial skos:exactMatch OMIM:139393 guillain-barre syndrome, familial semapv:UnspecifiedMatching MONDO:0007691 Guillain-Barre syndrome, familial skos:exactMatch SCTID:716723000 semapv:UnspecifiedMatching MONDO:0007692 obsolete hairy ears skos:exactMatch OMIM:139500 hairy ears semapv:UnspecifiedMatching MONDO:0007692 obsolete hairy ears skos:exactMatch SCTID:89000008 semapv:UnspecifiedMatching MONDO:0007692 obsolete hairy ears skos:exactMatch mesh:C562484 semapv:UnspecifiedMatching MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:exactMatch OMIM:139600 hairy elbows semapv:UnspecifiedMatching MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:exactMatch Orphanet:2220 Hypertrichosis cubiti semapv:UnspecifiedMatching MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:exactMatch UMLS:C4025295 semapv:UnspecifiedMatching MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:exactMatch mesh:C535618 semapv:UnspecifiedMatching MONDO:0007694 hairy nose tip skos:exactMatch OMIM:139630 hairy nose tip semapv:UnspecifiedMatching MONDO:0007694 hairy nose tip skos:exactMatch mesh:C535619 semapv:UnspecifiedMatching MONDO:0007695 hairy palms and soles skos:exactMatch OMIM:139650 hairy palms and soles semapv:UnspecifiedMatching MONDO:0007695 hairy palms and soles skos:exactMatch mesh:C535620 semapv:UnspecifiedMatching MONDO:0007696 Emery-Nelson syndrome skos:exactMatch OMIM:139750 hand and foot deformity with flat facies semapv:UnspecifiedMatching MONDO:0007696 Emery-Nelson syndrome skos:exactMatch Orphanet:1927 Emery-Nelson syndrome semapv:UnspecifiedMatching MONDO:0007696 Emery-Nelson syndrome skos:exactMatch UMLS:C1841693 semapv:UnspecifiedMatching MONDO:0007696 Emery-Nelson syndrome skos:exactMatch mesh:C535626 semapv:UnspecifiedMatching MONDO:0007697 hand clasping pattern skos:exactMatch OMIM:139800 hand clasping pattern semapv:UnspecifiedMatching MONDO:0007698 hand-foot-genital syndrome skos:exactMatch DOID:0060739 hand-foot-genital syndrome semapv:UnspecifiedMatching MONDO:0007698 hand-foot-genital syndrome skos:exactMatch OMIM:140000 hand-foot-genital syndrome semapv:UnspecifiedMatching MONDO:0007698 hand-foot-genital syndrome skos:exactMatch Orphanet:2438 Hand-foot-genital syndrome semapv:UnspecifiedMatching MONDO:0007698 hand-foot-genital syndrome skos:exactMatch SCTID:702425002 semapv:UnspecifiedMatching MONDO:0007698 hand-foot-genital syndrome skos:exactMatch UMLS:C1841679 semapv:UnspecifiedMatching MONDO:0007698 hand-foot-genital syndrome skos:exactMatch mesh:C535627 semapv:UnspecifiedMatching MONDO:0007699 Hashimoto thyroiditis skos:exactMatch DOID:7188 autoimmune thyroiditis semapv:UnspecifiedMatching MONDO:0007699 Hashimoto thyroiditis skos:exactMatch ICD10CM:E06.3 Autoimmune thyroiditis semapv:UnspecifiedMatching MONDO:0007699 Hashimoto thyroiditis skos:exactMatch NCIT:C27191 Hashimoto Thyroiditis semapv:UnspecifiedMatching MONDO:0007699 Hashimoto thyroiditis skos:exactMatch OMIM:140300 hashimoto thyroiditis semapv:UnspecifiedMatching MONDO:0007699 Hashimoto thyroiditis skos:exactMatch UMLS:C0677607 semapv:UnspecifiedMatching MONDO:0007699 Hashimoto thyroiditis skos:exactMatch mesh:D050031 semapv:UnspecifiedMatching MONDO:0007700 hawkinsinuria skos:exactMatch DOID:0111362 hawkinsinuria semapv:UnspecifiedMatching MONDO:0007700 hawkinsinuria skos:exactMatch OMIM:140350 hawkinsinuria semapv:UnspecifiedMatching MONDO:0007700 hawkinsinuria skos:exactMatch Orphanet:2118 Hawkinsinuria semapv:UnspecifiedMatching MONDO:0007700 hawkinsinuria skos:exactMatch SCTID:414380008 semapv:UnspecifiedMatching MONDO:0007700 hawkinsinuria skos:exactMatch UMLS:C2931042 semapv:UnspecifiedMatching MONDO:0007700 hawkinsinuria skos:exactMatch mesh:C535845 semapv:UnspecifiedMatching MONDO:0007701 progressive familial heart block type II skos:exactMatch DOID:0111075 progressive familial heart block type II semapv:UnspecifiedMatching MONDO:0007701 progressive familial heart block type II skos:exactMatch OMIM:140400 progressive familial heart block, iia 2 semapv:UnspecifiedMatching MONDO:0007701 progressive familial heart block type II skos:exactMatch SCTID:698251009 semapv:UnspecifiedMatching MONDO:0007701 progressive familial heart block type II skos:exactMatch mesh:C564202 semapv:UnspecifiedMatching MONDO:0007702 heart-hand syndrome type 3 skos:exactMatch OMIM:140450 heart-hand syndrome, spanish iia semapv:UnspecifiedMatching MONDO:0007702 heart-hand syndrome type 3 skos:exactMatch Orphanet:1342 Heart-hand syndrome type 3 semapv:UnspecifiedMatching MONDO:0007702 heart-hand syndrome type 3 skos:exactMatch SCTID:721013001 semapv:UnspecifiedMatching MONDO:0007702 heart-hand syndrome type 3 skos:exactMatch UMLS:C1841657 semapv:UnspecifiedMatching MONDO:0007702 heart-hand syndrome type 3 skos:exactMatch mesh:C535853 semapv:UnspecifiedMatching MONDO:0007704 osteoarthritis susceptibility 2 skos:exactMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:UnspecifiedMatching MONDO:0007705 Heinz body anemia skos:exactMatch DOID:0111363 Heinz body anemia semapv:UnspecifiedMatching MONDO:0007705 Heinz body anemia skos:exactMatch OMIM:140700 heinz body anemias semapv:UnspecifiedMatching MONDO:0007705 Heinz body anemia skos:exactMatch UMLS:C0700299 semapv:UnspecifiedMatching MONDO:0007705 Heinz body anemia skos:exactMatch mesh:C563030 semapv:UnspecifiedMatching MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:exactMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:UnspecifiedMatching MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:exactMatch SCTID:234140000 semapv:UnspecifiedMatching MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:exactMatch UMLS:C0472694 semapv:UnspecifiedMatching MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:exactMatch mesh:C538144 semapv:UnspecifiedMatching MONDO:0007707 hemangiomas of small intestine skos:exactMatch OMIM:140900 hemangiomas of small intestine semapv:UnspecifiedMatching MONDO:0007707 hemangiomas of small intestine skos:exactMatch UMLS:C1841654 semapv:UnspecifiedMatching MONDO:0007707 hemangiomas of small intestine skos:exactMatch mesh:C564201 semapv:UnspecifiedMatching MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch NCIT:C3821 Hemangiomatosis with Thrombocytopenia semapv:UnspecifiedMatching MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch OMIM:141000 hemangioma-thrombocytopenia syndrome semapv:UnspecifiedMatching MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch Orphanet:2330 Kasabach-Merritt phenomenon semapv:UnspecifiedMatching MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch SCTID:86635005 semapv:UnspecifiedMatching MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch UMLS:C0221025 semapv:UnspecifiedMatching MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch mesh:D059885 semapv:UnspecifiedMatching MONDO:0007709 hematuria, benign familial, 1 skos:exactMatch OMIM:141200 hematuria, benign familial, 1 semapv:UnspecifiedMatching MONDO:0007710 facial hemiatrophy skos:exactMatch DOID:1757 facial hemiatrophy semapv:UnspecifiedMatching MONDO:0007710 facial hemiatrophy skos:exactMatch NCIT:C116916 Progressive Hemifacial Atrophy semapv:UnspecifiedMatching MONDO:0007710 facial hemiatrophy skos:exactMatch OMIM:141300 hemifacial atrophy, progressive semapv:UnspecifiedMatching MONDO:0007710 facial hemiatrophy skos:exactMatch Orphanet:1214 Progressive hemifacial atrophy semapv:UnspecifiedMatching MONDO:0007710 facial hemiatrophy skos:exactMatch SCTID:718224004 semapv:UnspecifiedMatching MONDO:0007710 facial hemiatrophy skos:exactMatch UMLS:C0015458 semapv:UnspecifiedMatching MONDO:0007710 facial hemiatrophy skos:exactMatch mesh:D005150 semapv:UnspecifiedMatching MONDO:0007711 Bencze syndrome skos:exactMatch OMIM:141350 hemifacial hyperplasia with strabismus semapv:UnspecifiedMatching MONDO:0007711 Bencze syndrome skos:exactMatch Orphanet:1241 Bencze syndrome semapv:UnspecifiedMatching MONDO:0007711 Bencze syndrome skos:exactMatch SCTID:733046006 semapv:UnspecifiedMatching MONDO:0007711 Bencze syndrome skos:exactMatch UMLS:C1841640 semapv:UnspecifiedMatching MONDO:0007711 Bencze syndrome skos:exactMatch mesh:C564199 semapv:UnspecifiedMatching MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:exactMatch OMIM:141400 hemifacial microsomia with radial defects semapv:UnspecifiedMatching MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:exactMatch Orphanet:2549 Oculoauriculovertebral spectrum with radial defects semapv:UnspecifiedMatching MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:exactMatch SCTID:726722009 semapv:UnspecifiedMatching MONDO:0007713 clonic hemifacial spasm skos:exactMatch ICD10CM:G51.3 Clonic hemifacial spasm semapv:UnspecifiedMatching MONDO:0007713 clonic hemifacial spasm skos:exactMatch OMIM:141405 hemifacial spasm, familial semapv:UnspecifiedMatching MONDO:0007713 clonic hemifacial spasm skos:exactMatch Orphanet:221083 Hemifacial spasm semapv:UnspecifiedMatching MONDO:0007713 clonic hemifacial spasm skos:exactMatch UMLS:C1841639 semapv:UnspecifiedMatching MONDO:0007713 clonic hemifacial spasm skos:exactMatch mesh:C564198 semapv:UnspecifiedMatching MONDO:0007715 hemolytic poikilocytic anemia due to reduced ankyrin binding sites skos:exactMatch OMIM:141700 hemolytic poikilocytic anemia due to reduced ankyrin binding sites semapv:UnspecifiedMatching MONDO:0007715 hemolytic poikilocytic anemia due to reduced ankyrin binding sites skos:exactMatch UMLS:C1841622 semapv:UnspecifiedMatching MONDO:0007715 hemolytic poikilocytic anemia due to reduced ankyrin binding sites skos:exactMatch mesh:C564197 semapv:UnspecifiedMatching MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch DOID:0110029 alpha thalassemia-intellectual disability syndrome type 1 semapv:UnspecifiedMatching MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:UnspecifiedMatching MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:UnspecifiedMatching MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch SCTID:277918006 semapv:UnspecifiedMatching MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch UMLS:C0795917 semapv:UnspecifiedMatching MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch mesh:C563050 semapv:UnspecifiedMatching MONDO:0007717 hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain skos:exactMatch OMIM:142309 hemoglobin--variants for which the chain carrying the mutation 1s unknown or uncertain semapv:UnspecifiedMatching MONDO:0007717 hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain skos:exactMatch UMLS:C1840647 semapv:UnspecifiedMatching MONDO:0007718 hepatic adenomas, familial skos:exactMatch DOID:0111366 familial hepatic adenoma semapv:UnspecifiedMatching MONDO:0007718 hepatic adenomas, familial skos:exactMatch OMIM:142330 hepatic adenomas, familial semapv:UnspecifiedMatching MONDO:0007718 hepatic adenomas, familial skos:exactMatch UMLS:C1840646 semapv:UnspecifiedMatching MONDO:0007718 hepatic adenomas, familial skos:exactMatch mesh:C564190 semapv:UnspecifiedMatching MONDO:0007719 diaphragmatic hernia 1 skos:exactMatch OMIM:142340 diaphragmatic hernia, congenital semapv:UnspecifiedMatching MONDO:0007720 hernia, double inguinal skos:exactMatch OMIM:142350 hernia, double inguinal semapv:UnspecifiedMatching MONDO:0007720 hernia, double inguinal skos:exactMatch UMLS:C0860251 semapv:UnspecifiedMatching MONDO:0007720 hernia, double inguinal skos:exactMatch mesh:C563164 semapv:UnspecifiedMatching MONDO:0007721 hiatus hernia skos:exactMatch DOID:12642 hiatus hernia semapv:UnspecifiedMatching MONDO:0007721 hiatus hernia skos:exactMatch NCIT:C98945 Hiatal Hernia semapv:UnspecifiedMatching MONDO:0007721 hiatus hernia skos:exactMatch OMIM:142400 hernia, hiatus semapv:UnspecifiedMatching MONDO:0007721 hiatus hernia skos:exactMatch SCTID:84089009 semapv:UnspecifiedMatching MONDO:0007721 hiatus hernia skos:exactMatch mesh:D006551 semapv:UnspecifiedMatching MONDO:0007722 heterochromia iridis skos:exactMatch OMIM:142500 heterochromia iridis semapv:UnspecifiedMatching MONDO:0007722 heterochromia iridis skos:exactMatch mesh:C538115 semapv:UnspecifiedMatching MONDO:0007723 Hirschsprung disease, susceptibility to, 1 skos:exactMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0007723 Hirschsprung disease, susceptibility to, 1 skos:exactMatch UMLS:C3888239 semapv:UnspecifiedMatching MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome skos:exactMatch OMIM:142625 hirsutism, skeletal dysplasia, and mental retardation semapv:UnspecifiedMatching MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome skos:exactMatch UMLS:C0795976 semapv:UnspecifiedMatching MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome skos:exactMatch mesh:C536705 semapv:UnspecifiedMatching MONDO:0007725 hereditary progressive mucinous histiocytosis skos:exactMatch OMIM:142630 histiocytosis, progressive mucinous semapv:UnspecifiedMatching MONDO:0007725 hereditary progressive mucinous histiocytosis skos:exactMatch Orphanet:158025 Hereditary progressive mucinous histiocytosis semapv:UnspecifiedMatching MONDO:0007725 hereditary progressive mucinous histiocytosis skos:exactMatch UMLS:C1840586 semapv:UnspecifiedMatching MONDO:0007725 hereditary progressive mucinous histiocytosis skos:exactMatch mesh:C564186 semapv:UnspecifiedMatching MONDO:0007726 hip dysplasia, Beukes type skos:exactMatch DOID:0111367 Beukes hip dysplasia semapv:UnspecifiedMatching MONDO:0007726 hip dysplasia, Beukes type skos:exactMatch OMIM:142669 beukes hip dysplasia semapv:UnspecifiedMatching MONDO:0007726 hip dysplasia, Beukes type skos:exactMatch Orphanet:2114 Hip dysplasia, Beukes type semapv:UnspecifiedMatching MONDO:0007726 hip dysplasia, Beukes type skos:exactMatch SCTID:721148005 semapv:UnspecifiedMatching MONDO:0007726 hip dysplasia, Beukes type skos:exactMatch mesh:C564185 semapv:UnspecifiedMatching MONDO:0007727 autosomal dominant familial periodic fever skos:exactMatch DOID:0090018 autosomal dominant familial periodic fever semapv:UnspecifiedMatching MONDO:0007727 autosomal dominant familial periodic fever skos:exactMatch NCIT:C119051 Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome semapv:UnspecifiedMatching MONDO:0007727 autosomal dominant familial periodic fever skos:exactMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:UnspecifiedMatching MONDO:0007727 autosomal dominant familial periodic fever skos:exactMatch Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome semapv:UnspecifiedMatching MONDO:0007727 autosomal dominant familial periodic fever skos:exactMatch SCTID:403833009 semapv:UnspecifiedMatching MONDO:0007727 autosomal dominant familial periodic fever skos:exactMatch mesh:C536657 semapv:UnspecifiedMatching MONDO:0007728 acne inversa, familial, 1 skos:exactMatch OMIM:142690 acne inversa, familial, 1 semapv:UnspecifiedMatching MONDO:0007728 acne inversa, familial, 1 skos:exactMatch UMLS:C4551962 semapv:UnspecifiedMatching MONDO:0007729 developmental dysplasia of the hip 1 skos:exactMatch OMIM:142700 developmental dysplasia of the hip 1 semapv:UnspecifiedMatching MONDO:0007730 histiocytic dermatoarthritis skos:exactMatch OMIM:142730 histiocytic dermatoarthritis semapv:UnspecifiedMatching MONDO:0007730 histiocytic dermatoarthritis skos:exactMatch UMLS:C1840551 semapv:UnspecifiedMatching MONDO:0007730 histiocytic dermatoarthritis skos:exactMatch mesh:C564183 semapv:UnspecifiedMatching MONDO:0007731 obsolete HLA modifier skos:exactMatch OMIM:142770 hla modifier semapv:UnspecifiedMatching MONDO:0007732 Holt-Oram syndrome skos:exactMatch DOID:0060468 Holt-Oram syndrome semapv:UnspecifiedMatching MONDO:0007732 Holt-Oram syndrome skos:exactMatch NCIT:C125592 Holt-Oram Syndrome semapv:UnspecifiedMatching MONDO:0007732 Holt-Oram syndrome skos:exactMatch OMIM:142900 holt-oram syndrome semapv:UnspecifiedMatching MONDO:0007732 Holt-Oram syndrome skos:exactMatch Orphanet:392 Holt-Oram syndrome semapv:UnspecifiedMatching MONDO:0007732 Holt-Oram syndrome skos:exactMatch SCTID:19092004 semapv:UnspecifiedMatching MONDO:0007732 Holt-Oram syndrome skos:exactMatch UMLS:C0265264 semapv:UnspecifiedMatching MONDO:0007732 Holt-Oram syndrome skos:exactMatch mesh:C535326 semapv:UnspecifiedMatching MONDO:0007733 holoprosencephaly 3 skos:exactMatch DOID:0110875 holoprosencephaly 3 semapv:UnspecifiedMatching MONDO:0007733 holoprosencephaly 3 skos:exactMatch OMIM:142945 holoprosencephaly 3 semapv:UnspecifiedMatching MONDO:0007733 holoprosencephaly 3 skos:exactMatch UMLS:C1840529 semapv:UnspecifiedMatching MONDO:0007733 holoprosencephaly 3 skos:exactMatch mesh:C564181 semapv:UnspecifiedMatching MONDO:0007734 holoprosencephaly 4 skos:exactMatch DOID:0110880 holoprosencephaly 4 semapv:UnspecifiedMatching MONDO:0007734 holoprosencephaly 4 skos:exactMatch NCIT:C75475 Holoprosencephaly Type 4 semapv:UnspecifiedMatching MONDO:0007734 holoprosencephaly 4 skos:exactMatch OMIM:142946 holoprosencephaly 4 semapv:UnspecifiedMatching MONDO:0007734 holoprosencephaly 4 skos:exactMatch UMLS:C1840528 semapv:UnspecifiedMatching MONDO:0007734 holoprosencephaly 4 skos:exactMatch mesh:C564180 semapv:UnspecifiedMatching MONDO:0007735 congenital Horner syndrome skos:exactMatch OMIM:143000 horner syndrome, congenital semapv:UnspecifiedMatching MONDO:0007735 congenital Horner syndrome skos:exactMatch Orphanet:91413 Congenital Horner syndrome semapv:UnspecifiedMatching MONDO:0007735 congenital Horner syndrome skos:exactMatch UMLS:C1840475 semapv:UnspecifiedMatching MONDO:0007735 congenital Horner syndrome skos:exactMatch mesh:C564178 semapv:UnspecifiedMatching MONDO:0007736 HPA 1 Recognition polymorphism, beta-globin-related skos:exactMatch OMIM:143020 hpa 1 recognition polymorphism, beta-globin-related semapv:UnspecifiedMatching MONDO:0007737 humeroradial synostosis skos:exactMatch DOID:0060467 humeroradial synostosis semapv:UnspecifiedMatching MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:143050 humeroradial synostosis semapv:UnspecifiedMatching MONDO:0007737 humeroradial synostosis skos:exactMatch Orphanet:3265 Humero-radial synostosis semapv:UnspecifiedMatching MONDO:0007737 humeroradial synostosis skos:exactMatch SCTID:205329008 semapv:UnspecifiedMatching MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations semapv:UnspecifiedMatching MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations semapv:UnspecifiedMatching MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch Orphanet:263463 CHST3-related skeletal dysplasia semapv:UnspecifiedMatching MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch SCTID:702400006 semapv:UnspecifiedMatching MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch mesh:C537283 semapv:UnspecifiedMatching MONDO:0007739 Huntington disease skos:exactMatch DOID:12858 Huntington's disease semapv:UnspecifiedMatching MONDO:0007739 Huntington disease skos:exactMatch NCIT:C82342 Huntington's Disease semapv:UnspecifiedMatching MONDO:0007739 Huntington disease skos:exactMatch OMIM:143100 huntington disease semapv:UnspecifiedMatching MONDO:0007739 Huntington disease skos:exactMatch Orphanet:399 Huntington disease semapv:UnspecifiedMatching MONDO:0007739 Huntington disease skos:exactMatch SCTID:58756001 semapv:UnspecifiedMatching MONDO:0007739 Huntington disease skos:exactMatch UMLS:C0020179 semapv:UnspecifiedMatching MONDO:0007739 Huntington disease skos:exactMatch mesh:D006816 semapv:UnspecifiedMatching MONDO:0007740 Wagner disease skos:exactMatch OMIM:143200 wagner vitreoretinopathy semapv:UnspecifiedMatching MONDO:0007740 Wagner disease skos:exactMatch Orphanet:898 Wagner disease semapv:UnspecifiedMatching MONDO:0007740 Wagner disease skos:exactMatch SCTID:232064001 semapv:UnspecifiedMatching MONDO:0007740 Wagner disease skos:exactMatch UMLS:C1840452 semapv:UnspecifiedMatching MONDO:0007740 Wagner disease skos:exactMatch mesh:C536075 semapv:UnspecifiedMatching MONDO:0007741 congenital hydronephrosis skos:exactMatch ICD10CM:Q62.0 Congenital hydronephrosis semapv:UnspecifiedMatching MONDO:0007741 congenital hydronephrosis skos:exactMatch NCIT:C102979 Congenital Hydronephrosis semapv:UnspecifiedMatching MONDO:0007741 congenital hydronephrosis skos:exactMatch SCTID:16297002 semapv:UnspecifiedMatching MONDO:0007741 congenital hydronephrosis skos:exactMatch UMLS:C0266316 semapv:UnspecifiedMatching MONDO:0007742 5-hydroxytryptamine oxygenase regulator skos:exactMatch OMIM:143460 5-hydroxytryptamine oxygenase regulator semapv:UnspecifiedMatching MONDO:0007743 attention deficit-hyperactivity disorder skos:exactMatch NCIT:C97160 Attention Deficit Hyperactivity Disorder semapv:UnspecifiedMatching MONDO:0007744 cholesterol-ester transfer protein deficiency skos:broadMatch DOID:0111368 cholesterol-ester transfer protein deficiency semapv:UnspecifiedMatching MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch DOID:0111369 hyperalphalipoproteinemia 1 semapv:UnspecifiedMatching MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:UnspecifiedMatching MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:UnspecifiedMatching MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch SCTID:15771000119109 semapv:UnspecifiedMatching MONDO:0007745 Gilbert syndrome skos:exactMatch DOID:2739 Gilbert syndrome semapv:UnspecifiedMatching MONDO:0007745 Gilbert syndrome skos:exactMatch ICD10CM:E80.4 Gilbert syndrome semapv:UnspecifiedMatching MONDO:0007745 Gilbert syndrome skos:exactMatch NCIT:C84729 Gilbert Syndrome semapv:UnspecifiedMatching MONDO:0007745 Gilbert syndrome skos:exactMatch OMIM:143500 gilbert syndrome semapv:UnspecifiedMatching MONDO:0007745 Gilbert syndrome skos:exactMatch SCTID:27503000 semapv:UnspecifiedMatching MONDO:0007745 Gilbert syndrome skos:exactMatch mesh:D005878 semapv:UnspecifiedMatching MONDO:0007746 orthostatic hypotensive disorder, Streeten type skos:exactMatch OMIM:143850 orthostatic hypotensive disorder, streeten iia semapv:UnspecifiedMatching MONDO:0007746 orthostatic hypotensive disorder, Streeten type skos:exactMatch UMLS:C1840438 semapv:UnspecifiedMatching MONDO:0007746 orthostatic hypotensive disorder, Streeten type skos:exactMatch mesh:C564174 semapv:UnspecifiedMatching MONDO:0007747 isolated hyperchlorhidrosis skos:exactMatch DOID:0111371 isolated hyperchlorhidrosis semapv:UnspecifiedMatching MONDO:0007747 isolated hyperchlorhidrosis skos:exactMatch OMIM:143860 hyperchlorhidrosis, isolated semapv:UnspecifiedMatching MONDO:0007747 isolated hyperchlorhidrosis skos:exactMatch Orphanet:542657 Isolated hyperchlorhidrosis semapv:UnspecifiedMatching MONDO:0007747 isolated hyperchlorhidrosis skos:exactMatch SCTID:709413001 semapv:UnspecifiedMatching MONDO:0007748 hypercalciuria, absorptive, 2 skos:exactMatch OMIM:143870 hypercalciuria, absorptive, 2 semapv:UnspecifiedMatching MONDO:0007748 hypercalciuria, absorptive, 2 skos:exactMatch SCTID:237886009 semapv:UnspecifiedMatching MONDO:0007748 hypercalciuria, absorptive, 2 skos:exactMatch mesh:C562790 semapv:UnspecifiedMatching MONDO:0007750 hypercholesterolemia, familial, 1 skos:exactMatch OMIM:143890 hypercholesterolemia, familial, 1 semapv:UnspecifiedMatching MONDO:0007750 hypercholesterolemia, familial, 1 skos:exactMatch SCTID:398036000 semapv:UnspecifiedMatching MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:exactMatch OMIM:144010 hypercholesterolemia, familial, 2 semapv:UnspecifiedMatching MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:exactMatch SCTID:238081000 semapv:UnspecifiedMatching MONDO:0007752 hyperheparinemia skos:exactMatch OMIM:144050 hyperheparinemia semapv:UnspecifiedMatching MONDO:0007752 hyperheparinemia skos:exactMatch SCTID:79674009 semapv:UnspecifiedMatching MONDO:0007752 hyperheparinemia skos:exactMatch UMLS:C3203346 semapv:UnspecifiedMatching MONDO:0007752 hyperheparinemia skos:exactMatch mesh:C562723 semapv:UnspecifiedMatching MONDO:0007753 Frey syndrome skos:exactMatch DOID:11599 Frey syndrome semapv:UnspecifiedMatching MONDO:0007753 Frey syndrome skos:exactMatch OMIM:144100 hyperhidrosis, gustatory semapv:UnspecifiedMatching MONDO:0007753 Frey syndrome skos:exactMatch SCTID:238758008 semapv:UnspecifiedMatching MONDO:0007753 Frey syndrome skos:exactMatch mesh:D013547 semapv:UnspecifiedMatching MONDO:0007754 hyperhidrosis palmaris ET plantaris skos:exactMatch OMIM:144110 hyperhidrosis palmaris et plantaris semapv:UnspecifiedMatching MONDO:0007754 hyperhidrosis palmaris ET plantaris skos:exactMatch UMLS:C1274743 semapv:UnspecifiedMatching MONDO:0007754 hyperhidrosis palmaris ET plantaris skos:exactMatch mesh:C563185 semapv:UnspecifiedMatching MONDO:0007755 hyperimmunoglobulin G1(A1) syndrome skos:exactMatch OMIM:144120 hyperimmunoglobulin g1(a1) syndrome semapv:UnspecifiedMatching MONDO:0007755 hyperimmunoglobulin G1(A1) syndrome skos:exactMatch UMLS:C1840429 semapv:UnspecifiedMatching MONDO:0007755 hyperimmunoglobulin G1(A1) syndrome skos:exactMatch mesh:C564173 semapv:UnspecifiedMatching MONDO:0007756 hyperkeratosis lenticularis perstans skos:exactMatch OMIM:144150 hyperkeratosis lenticularis perstans semapv:UnspecifiedMatching MONDO:0007756 hyperkeratosis lenticularis perstans skos:exactMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:UnspecifiedMatching MONDO:0007756 hyperkeratosis lenticularis perstans skos:exactMatch SCTID:28488007 semapv:UnspecifiedMatching MONDO:0007756 hyperkeratosis lenticularis perstans skos:exactMatch UMLS:C0263420 semapv:UnspecifiedMatching MONDO:0007756 hyperkeratosis lenticularis perstans skos:exactMatch mesh:C538377 semapv:UnspecifiedMatching MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:exactMatch OMIM:144190 hyperkeratosis-hyperpigmentation syndrome semapv:UnspecifiedMatching MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:exactMatch Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome semapv:UnspecifiedMatching MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:exactMatch UMLS:C1840428 semapv:UnspecifiedMatching MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:exactMatch mesh:C564172 semapv:UnspecifiedMatching MONDO:0007758 epidermolytic palmoplantar keratoderma skos:exactMatch DOID:0080223 epidermolytic palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0007758 epidermolytic palmoplantar keratoderma skos:exactMatch NCIT:C84693 Epidermolytic Palmoplantar Keratoderma semapv:UnspecifiedMatching MONDO:0007758 epidermolytic palmoplantar keratoderma skos:exactMatch OMIM:144200 palmoplantar keratoderma, epidermolytic, 1 semapv:UnspecifiedMatching MONDO:0007758 epidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0007758 epidermolytic palmoplantar keratoderma skos:exactMatch SCTID:399955009 semapv:UnspecifiedMatching MONDO:0007758 epidermolytic palmoplantar keratoderma skos:exactMatch UMLS:C1721006 semapv:UnspecifiedMatching MONDO:0007759 hyperlipidemia, familial combined, LPL related skos:exactMatch OMIM:144250 hyperlipidemia, familial combined, 3 semapv:UnspecifiedMatching MONDO:0007760 hyperlipoproteinemia, type II, and deafness skos:exactMatch OMIM:144300 hyperlipoproteinemia, iia ii, and deafness semapv:UnspecifiedMatching MONDO:0007760 hyperlipoproteinemia, type II, and deafness skos:exactMatch UMLS:C1840425 semapv:UnspecifiedMatching MONDO:0007760 hyperlipoproteinemia, type II, and deafness skos:exactMatch mesh:C564170 semapv:UnspecifiedMatching MONDO:0007761 obsolete hyperlipoproteinemia type IV skos:exactMatch DOID:1172 hyperlipoproteinemia type IV semapv:UnspecifiedMatching MONDO:0007761 obsolete hyperlipoproteinemia type IV skos:exactMatch OMIM:144600 hyperlipoproteinemia, iia 4 semapv:UnspecifiedMatching MONDO:0007761 obsolete hyperlipoproteinemia type IV skos:exactMatch Orphanet:413 NON RARE IN EUROPE: Hyperlipoproteinemia type 4 semapv:UnspecifiedMatching MONDO:0007761 obsolete hyperlipoproteinemia type IV skos:exactMatch SCTID:238085009 semapv:UnspecifiedMatching MONDO:0007761 obsolete hyperlipoproteinemia type IV skos:exactMatch UMLS:C0020480 semapv:UnspecifiedMatching MONDO:0007761 obsolete hyperlipoproteinemia type IV skos:exactMatch mesh:D006953 semapv:UnspecifiedMatching MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch DOID:0111421 familial apolipoprotein A5 deficiency semapv:UnspecifiedMatching MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch DOID:1171 hyperlipoproteinemia type V semapv:UnspecifiedMatching MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch OMIM:144650 hyperlipoproteinemia, iia 5 semapv:UnspecifiedMatching MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch Orphanet:530849 Familial apolipoprotein A5 deficiency semapv:UnspecifiedMatching MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch SCTID:34349009 semapv:UnspecifiedMatching MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch mesh:D006954 semapv:UnspecifiedMatching MONDO:0007763 nonpapillary renal cell carcinoma skos:exactMatch DOID:0050387 nonpapillary renal cell carcinoma semapv:UnspecifiedMatching MONDO:0007763 nonpapillary renal cell carcinoma skos:exactMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:UnspecifiedMatching MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:exactMatch DOID:0080037 Worth syndrome semapv:UnspecifiedMatching MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:exactMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:UnspecifiedMatching MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:exactMatch Orphanet:2790 Endosteal hyperostosis, Worth type semapv:UnspecifiedMatching MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:exactMatch SCTID:254131007 semapv:UnspecifiedMatching MONDO:0007765 hyperostosis cranialis interna skos:exactMatch OMIM:144755 hyperostosis cranialis interna semapv:UnspecifiedMatching MONDO:0007765 hyperostosis cranialis interna skos:exactMatch Orphanet:443098 Hyperostosis cranialis interna semapv:UnspecifiedMatching MONDO:0007765 hyperostosis cranialis interna skos:exactMatch mesh:C564168 semapv:UnspecifiedMatching MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:exactMatch NCIT:C84772 Hyperostosis Frontalis Interna semapv:UnspecifiedMatching MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:exactMatch OMIM:144800 hyperostosis frontalis interna semapv:UnspecifiedMatching MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:exactMatch Orphanet:77296 Morgagni-Stewart-Morel syndrome semapv:UnspecifiedMatching MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:exactMatch SCTID:82054006 semapv:UnspecifiedMatching MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:exactMatch mesh:D006957 semapv:UnspecifiedMatching MONDO:0007767 hyperparathyroidism 1 skos:exactMatch OMIM:145000 hyperparathyroidism 1 semapv:UnspecifiedMatching MONDO:0007767 hyperparathyroidism 1 skos:exactMatch UMLS:C1840402 semapv:UnspecifiedMatching MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:exactMatch NCIT:C48287 Hyperparathyroidism-Jaw Tumor Syndrome semapv:UnspecifiedMatching MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:exactMatch OMIM:145001 hyperparathyroidism 2 with jaw tumors semapv:UnspecifiedMatching MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:exactMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:UnspecifiedMatching MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:exactMatch SCTID:702378002 semapv:UnspecifiedMatching MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:exactMatch UMLS:C1704981 semapv:UnspecifiedMatching MONDO:0007769 hyperpigmentation of eyelid skos:exactMatch DOID:10122 hyperpigmentation of eyelid semapv:UnspecifiedMatching MONDO:0007769 hyperpigmentation of eyelid skos:exactMatch OMIM:145100 hyperpigmentation of eyelids semapv:UnspecifiedMatching MONDO:0007769 hyperpigmentation of eyelid skos:exactMatch SCTID:41115008 semapv:UnspecifiedMatching MONDO:0007769 hyperpigmentation of eyelid skos:exactMatch UMLS:C0155211 semapv:UnspecifiedMatching MONDO:0007769 hyperpigmentation of eyelid skos:exactMatch mesh:C562400 semapv:UnspecifiedMatching MONDO:0007770 hyperpigmentation of Fuldauer and Kuijpers skos:exactMatch OMIM:145200 hyperpigmentation of fuldauer and kuijpers semapv:UnspecifiedMatching MONDO:0007770 hyperpigmentation of Fuldauer and Kuijpers skos:exactMatch UMLS:C1840393 semapv:UnspecifiedMatching MONDO:0007770 hyperpigmentation of Fuldauer and Kuijpers skos:exactMatch mesh:C564164 semapv:UnspecifiedMatching MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:exactMatch DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation semapv:UnspecifiedMatching MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:exactMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:UnspecifiedMatching MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:exactMatch UMLS:C1840392 semapv:UnspecifiedMatching MONDO:0007772 pseudohypoaldosteronism type 2A skos:exactMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:UnspecifiedMatching MONDO:0007772 pseudohypoaldosteronism type 2A skos:exactMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:UnspecifiedMatching MONDO:0007772 pseudohypoaldosteronism type 2A skos:exactMatch SCTID:703254001 semapv:UnspecifiedMatching MONDO:0007772 pseudohypoaldosteronism type 2A skos:exactMatch UMLS:C1840389 semapv:UnspecifiedMatching MONDO:0007773 hyperproglucagonemia skos:exactMatch OMIM:145270 hyperproglucagonemia semapv:UnspecifiedMatching MONDO:0007773 hyperproglucagonemia skos:exactMatch UMLS:C1840388 semapv:UnspecifiedMatching MONDO:0007773 hyperproglucagonemia skos:exactMatch mesh:C564159 semapv:UnspecifiedMatching MONDO:0007774 hyperreflexia skos:exactMatch OMIM:145290 hyperreflexia semapv:UnspecifiedMatching MONDO:0007774 hyperreflexia skos:exactMatch mesh:D012021 semapv:UnspecifiedMatching MONDO:0007775 hypersecretion of adrenal androgens, familial skos:exactMatch OMIM:145295 hypersecretion of adrenal androgens, familial semapv:UnspecifiedMatching MONDO:0007775 hypersecretion of adrenal androgens, familial skos:exactMatch UMLS:C1840387 semapv:UnspecifiedMatching MONDO:0007775 hypersecretion of adrenal androgens, familial skos:exactMatch mesh:C536845 semapv:UnspecifiedMatching MONDO:0007776 hypersensitivity pneumonitis, familial skos:exactMatch OMIM:145300 hypersensitivity pneumonitis, familial semapv:UnspecifiedMatching MONDO:0007776 hypersensitivity pneumonitis, familial skos:exactMatch UMLS:C1840386 semapv:UnspecifiedMatching MONDO:0007776 hypersensitivity pneumonitis, familial skos:exactMatch mesh:C536846 semapv:UnspecifiedMatching MONDO:0007777 hypotaurinemic retinal degeneration and cardiomyopathy skos:exactMatch OMIM:145350 hypotaurinemic retinal degeneration and cardiomyopathy semapv:UnspecifiedMatching MONDO:0007777 hypotaurinemic retinal degeneration and cardiomyopathy skos:exactMatch UMLS:C5542181 semapv:UnspecifiedMatching MONDO:0007777 hypotaurinemic retinal degeneration and cardiomyopathy skos:exactMatch mesh:C564157 semapv:UnspecifiedMatching MONDO:0007778 obsolete hypertelorism skos:exactMatch NCIT:C34715 Hypertelorism semapv:UnspecifiedMatching MONDO:0007778 obsolete hypertelorism skos:exactMatch OMIM:145400 hypertelorism semapv:UnspecifiedMatching MONDO:0007778 obsolete hypertelorism skos:exactMatch SCTID:22006008 semapv:UnspecifiedMatching MONDO:0007778 obsolete hypertelorism skos:exactMatch mesh:D006972 semapv:UnspecifiedMatching MONDO:0007779 obsolete autosomal dominant Opitz G/BBB syndrome skos:exactMatch OMIM:145410 semapv:UnspecifiedMatching MONDO:0007779 obsolete autosomal dominant Opitz G/BBB syndrome skos:exactMatch Orphanet:306588 OBSOLETE: Autosomal dominant Opitz G/BBB syndrome semapv:UnspecifiedMatching MONDO:0007781 essential hypertension, genetic skos:exactMatch OMIM:145500 hypertension, essential semapv:UnspecifiedMatching MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea skos:exactMatch OMIM:145590 hyperthermia, cutaneous, with headaches and nausea semapv:UnspecifiedMatching MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea skos:exactMatch UMLS:C1840373 semapv:UnspecifiedMatching MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea skos:exactMatch mesh:C564156 semapv:UnspecifiedMatching MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:exactMatch DOID:0080990 King Denborough syndrome semapv:UnspecifiedMatching MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:exactMatch OMIM:145600 malignant hyperthermia, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:exactMatch UMLS:C2930980 semapv:UnspecifiedMatching MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:exactMatch mesh:C535694 semapv:UnspecifiedMatching MONDO:0007784 selective pituitary resistance to thyroid hormone skos:exactMatch DOID:0111374 selective pituitary thyroid hormone resistance semapv:UnspecifiedMatching MONDO:0007784 selective pituitary resistance to thyroid hormone skos:exactMatch OMIM:145650 thyroid hormone resistance, selective pituitary semapv:UnspecifiedMatching MONDO:0007784 selective pituitary resistance to thyroid hormone skos:exactMatch UMLS:C1840364 semapv:UnspecifiedMatching MONDO:0007784 selective pituitary resistance to thyroid hormone skos:exactMatch mesh:C564154 semapv:UnspecifiedMatching MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:exactMatch DOID:0080219 dystransthyretinemic hyperthyroxinemia semapv:UnspecifiedMatching MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:exactMatch OMIM:145680 hyperthyroxinemia, dystransthyretinemic semapv:UnspecifiedMatching MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:exactMatch UMLS:C2750824 semapv:UnspecifiedMatching MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:exactMatch mesh:C567719 semapv:UnspecifiedMatching MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:exactMatch DOID:0111060 Ambras type hypertrichosis universalis congenita semapv:UnspecifiedMatching MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:exactMatch OMIM:145701 hypertrichosis universalis congenita, ambras iia semapv:UnspecifiedMatching MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:exactMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:UnspecifiedMatching MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:exactMatch UMLS:C1840362 semapv:UnspecifiedMatching MONDO:0007788 hypertriglyceridemia 1 skos:exactMatch OMIM:145750 hypertriglyceridemia 1 semapv:UnspecifiedMatching MONDO:0007788 hypertriglyceridemia 1 skos:exactMatch SCTID:34528009 semapv:UnspecifiedMatching MONDO:0007789 hypertrophia musculorum vera skos:exactMatch OMIM:145800 hypertrophia musculorum vera semapv:UnspecifiedMatching MONDO:0007789 hypertrophia musculorum vera skos:exactMatch UMLS:C1840361 semapv:UnspecifiedMatching MONDO:0007789 hypertrophia musculorum vera skos:exactMatch mesh:C564152 semapv:UnspecifiedMatching MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch DOID:0050540 Charcot-Marie-Tooth disease type 3 semapv:UnspecifiedMatching MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch NCIT:C133087 Dejerine-Sottas Neuropathy semapv:UnspecifiedMatching MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch OMIM:145900 hypertrophic neuropathy of dejerine-sottas semapv:UnspecifiedMatching MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:UnspecifiedMatching MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch SCTID:111499002 semapv:UnspecifiedMatching MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch UMLS:C0011195 semapv:UnspecifiedMatching MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:exactMatch DOID:0060700 familial hypocalciuric hypercalcemia 1 semapv:UnspecifiedMatching MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:exactMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:UnspecifiedMatching MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:exactMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:UnspecifiedMatching MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:exactMatch SCTID:704166007 semapv:UnspecifiedMatching MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:exactMatch UMLS:C0342637 semapv:UnspecifiedMatching MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:exactMatch mesh:C537145 semapv:UnspecifiedMatching MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:exactMatch DOID:0060701 familial hypocalciuric hypercalcemia 2 semapv:UnspecifiedMatching MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:exactMatch OMIM:145981 hypocalciuric hypercalcemia, familial, iia 2 semapv:UnspecifiedMatching MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:exactMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:UnspecifiedMatching MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:exactMatch UMLS:C1840347 semapv:UnspecifiedMatching MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:exactMatch mesh:C537146 semapv:UnspecifiedMatching MONDO:0007793 hypochondroplasia skos:exactMatch DOID:0080041 hypochondroplasia semapv:UnspecifiedMatching MONDO:0007793 hypochondroplasia skos:exactMatch NCIT:C118697 Hypochondroplasia semapv:UnspecifiedMatching MONDO:0007793 hypochondroplasia skos:exactMatch OMIM:146000 hypochondroplasia semapv:UnspecifiedMatching MONDO:0007793 hypochondroplasia skos:exactMatch Orphanet:429 Hypochondroplasia semapv:UnspecifiedMatching MONDO:0007793 hypochondroplasia skos:exactMatch SCTID:205468002 semapv:UnspecifiedMatching MONDO:0007793 hypochondroplasia skos:exactMatch UMLS:C0410529 semapv:UnspecifiedMatching MONDO:0007793 hypochondroplasia skos:exactMatch mesh:C562937 semapv:UnspecifiedMatching MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:exactMatch DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia semapv:UnspecifiedMatching MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:exactMatch OMIM:146110 hypogonadotropic hypogonadism 7 with or without anosmia semapv:UnspecifiedMatching MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:exactMatch SCTID:123953004 semapv:UnspecifiedMatching MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:exactMatch OMIM:146160 hypomelia with mullerian duct anomalies semapv:UnspecifiedMatching MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:exactMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:UnspecifiedMatching MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:exactMatch UMLS:C1840335 semapv:UnspecifiedMatching MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:exactMatch mesh:C537155 semapv:UnspecifiedMatching MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:exactMatch OMIM:146200 hypoparathyroidism, familial isolated, 1 semapv:UnspecifiedMatching MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:exactMatch SCTID:237657009 semapv:UnspecifiedMatching MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome semapv:UnspecifiedMatching MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch NCIT:C130983 Barakat Syndrome semapv:UnspecifiedMatching MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:UnspecifiedMatching MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch SCTID:724282009 semapv:UnspecifiedMatching MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch UMLS:C1840333 semapv:UnspecifiedMatching MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch mesh:C537907 semapv:UnspecifiedMatching MONDO:0007798 obsolete adult hypophosphatasia skos:exactMatch DOID:0110913 adult hypophosphatasia semapv:UnspecifiedMatching MONDO:0007798 obsolete adult hypophosphatasia skos:exactMatch OMIM:146300 hypophosphatasia, adult semapv:UnspecifiedMatching MONDO:0007798 obsolete adult hypophosphatasia skos:exactMatch Orphanet:247676 Adult hypophosphatasia semapv:UnspecifiedMatching MONDO:0007798 obsolete adult hypophosphatasia skos:exactMatch SCTID:20756002 semapv:UnspecifiedMatching MONDO:0007798 obsolete adult hypophosphatasia skos:exactMatch UMLS:C0268413 semapv:UnspecifiedMatching MONDO:0007799 hypophosphatemic bone disease skos:exactMatch OMIM:146350 hypophosphatemic bone disease semapv:UnspecifiedMatching MONDO:0007799 hypophosphatemic bone disease skos:exactMatch UMLS:C1840321 semapv:UnspecifiedMatching MONDO:0007799 hypophosphatemic bone disease skos:exactMatch mesh:C564145 semapv:UnspecifiedMatching MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch DOID:0060406 chromosome 18p deletion syndrome semapv:UnspecifiedMatching MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch NCIT:C84521 Deletion 18p Syndrome semapv:UnspecifiedMatching MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch OMIM:146390 chromosome 18p deletion syndrome semapv:UnspecifiedMatching MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch Orphanet:1598 Monosomy 18p semapv:UnspecifiedMatching MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch Orphanet:261974 Partial deletion of the short arm of chromosome 18 semapv:UnspecifiedMatching MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch SCTID:270890001 semapv:UnspecifiedMatching MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch UMLS:C0432442 semapv:UnspecifiedMatching MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch mesh:C538309 semapv:UnspecifiedMatching MONDO:0007801 obsolete hypoplasia of teeth roots skos:exactMatch OMIM:146400 semapv:UnspecifiedMatching MONDO:0007801 obsolete hypoplasia of teeth roots skos:exactMatch mesh:C564144 semapv:UnspecifiedMatching MONDO:0007802 hypospadias 3, autosomal skos:exactMatch OMIM:146450 hypospadias 3, autosomal semapv:UnspecifiedMatching MONDO:0007802 hypospadias 3, autosomal skos:exactMatch UMLS:C2675154 semapv:UnspecifiedMatching MONDO:0007802 hypospadias 3, autosomal skos:exactMatch mesh:C567191 semapv:UnspecifiedMatching MONDO:0007803 multiple system atrophy skos:exactMatch DOID:4752 multiple system atrophy semapv:UnspecifiedMatching MONDO:0007803 multiple system atrophy skos:exactMatch NCIT:C84909 Multiple System Atrophy semapv:UnspecifiedMatching MONDO:0007803 multiple system atrophy skos:exactMatch Orphanet:102 Multiple system atrophy semapv:UnspecifiedMatching MONDO:0007803 multiple system atrophy skos:exactMatch UMLS:C0393571 semapv:UnspecifiedMatching MONDO:0007803 multiple system atrophy skos:exactMatch mesh:D019578 semapv:UnspecifiedMatching MONDO:0007804 Pallister-Hall syndrome skos:exactMatch DOID:9248 Pallister-Hall syndrome semapv:UnspecifiedMatching MONDO:0007804 Pallister-Hall syndrome skos:exactMatch NCIT:C84987 Pallister-Hall Syndrome semapv:UnspecifiedMatching MONDO:0007804 Pallister-Hall syndrome skos:exactMatch OMIM:146510 pallister-hall syndrome semapv:UnspecifiedMatching MONDO:0007804 Pallister-Hall syndrome skos:exactMatch Orphanet:672 Pallister-Hall syndrome semapv:UnspecifiedMatching MONDO:0007804 Pallister-Hall syndrome skos:exactMatch SCTID:56677004 semapv:UnspecifiedMatching MONDO:0007804 Pallister-Hall syndrome skos:exactMatch UMLS:C0265220 semapv:UnspecifiedMatching MONDO:0007804 Pallister-Hall syndrome skos:exactMatch mesh:D054975 semapv:UnspecifiedMatching MONDO:0007805 hypotrichosis 2 skos:exactMatch DOID:0110699 hypotrichosis 2 semapv:UnspecifiedMatching MONDO:0007805 hypotrichosis 2 skos:exactMatch OMIM:146520 hypotrichosis 2 semapv:UnspecifiedMatching MONDO:0007805 hypotrichosis 2 skos:exactMatch mesh:C564143 semapv:UnspecifiedMatching MONDO:0007807 hypoxanthine guanine phosphoribosyltransferase suppressor skos:exactMatch OMIM:146580 hypoxanthine guanine phosphoribosyltransferase suppressor semapv:UnspecifiedMatching MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:exactMatch OMIM:146590 ichthyosis hystrix, curth-macklin iia semapv:UnspecifiedMatching MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:exactMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:UnspecifiedMatching MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:exactMatch SCTID:254170001 semapv:UnspecifiedMatching MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:exactMatch UMLS:C1840296 semapv:UnspecifiedMatching MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:exactMatch mesh:C536088 semapv:UnspecifiedMatching MONDO:0007809 ichthyosis histrix, Lambert type skos:exactMatch OMIM:146600 ichthyosis hystrix, lambert iia semapv:UnspecifiedMatching MONDO:0007809 ichthyosis histrix, Lambert type skos:exactMatch SCTID:254174005 semapv:UnspecifiedMatching MONDO:0007809 ichthyosis histrix, Lambert type skos:exactMatch mesh:C536087 semapv:UnspecifiedMatching MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:exactMatch DOID:1702 ichthyosis vulgaris semapv:UnspecifiedMatching MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:exactMatch ICD10CM:Q80.0 Ichthyosis vulgaris semapv:UnspecifiedMatching MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:UnspecifiedMatching MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:exactMatch SCTID:254157005 semapv:UnspecifiedMatching MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:exactMatch UMLS:C0432300 semapv:UnspecifiedMatching MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:exactMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:UnspecifiedMatching MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:exactMatch SCTID:716097001 semapv:UnspecifiedMatching MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:exactMatch mesh:C536084 semapv:UnspecifiedMatching MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:exactMatch OMIM:146750 ichthyosis, lamellar, autosomal dominant semapv:UnspecifiedMatching MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:exactMatch SCTID:254164007 semapv:UnspecifiedMatching MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:exactMatch mesh:C537263 semapv:UnspecifiedMatching MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch DOID:0060877 bullous congenital ichthyosiform erythroderma semapv:UnspecifiedMatching MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch NCIT:C84777 Ichthyosis Bullosa of Siemens semapv:UnspecifiedMatching MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch OMIM:146800 ichthyosis bullosa of siemens semapv:UnspecifiedMatching MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:UnspecifiedMatching MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch SCTID:254169002 semapv:UnspecifiedMatching MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch UMLS:C0432306 semapv:UnspecifiedMatching MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch mesh:D053560 semapv:UnspecifiedMatching MONDO:0007814 immune deficiency, familial variable skos:exactMatch OMIM:146830 immune deficiency, familial variable semapv:UnspecifiedMatching MONDO:0007814 immune deficiency, familial variable skos:exactMatch UMLS:C1840266 semapv:UnspecifiedMatching MONDO:0007814 immune deficiency, familial variable skos:exactMatch mesh:C564136 semapv:UnspecifiedMatching MONDO:0007816 obsolete immune suppression skos:exactMatch OMIM:146850 immune suppression semapv:UnspecifiedMatching MONDO:0007816 obsolete immune suppression skos:exactMatch UMLS:C1840264 semapv:UnspecifiedMatching MONDO:0007817 IgE responsiveness, atopic skos:exactMatch NCIT:C3116 Type I Hypersensitivity semapv:UnspecifiedMatching MONDO:0007817 IgE responsiveness, atopic skos:exactMatch OMIM:147050 ige responsiveness, atopic semapv:UnspecifiedMatching MONDO:0007817 IgE responsiveness, atopic skos:exactMatch UMLS:C1840253 semapv:UnspecifiedMatching MONDO:0007817 IgE responsiveness, atopic skos:exactMatch mesh:C564133 semapv:UnspecifiedMatching MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch DOID:3261 hyper IgE recurrent infection syndrome 1 semapv:UnspecifiedMatching MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch NCIT:C126342 STAT3 Deficiency semapv:UnspecifiedMatching MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections semapv:UnspecifiedMatching MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency semapv:UnspecifiedMatching MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch SCTID:50926003 semapv:UnspecifiedMatching MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch UMLS:C4721531 semapv:UnspecifiedMatching MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch mesh:C564135 semapv:UnspecifiedMatching MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch mesh:C567925 semapv:UnspecifiedMatching MONDO:0007819 solitary median maxillary central incisor syndrome skos:exactMatch OMIM:147250 solitary median maxillary central incisor semapv:UnspecifiedMatching MONDO:0007819 solitary median maxillary central incisor syndrome skos:exactMatch SCTID:707609006 semapv:UnspecifiedMatching MONDO:0007819 solitary median maxillary central incisor syndrome skos:exactMatch mesh:C537342 semapv:UnspecifiedMatching MONDO:0007820 fused mandibular incisors skos:exactMatch OMIM:147251 incisors, fused mandibular semapv:UnspecifiedMatching MONDO:0007820 fused mandibular incisors skos:exactMatch Orphanet:2287 Fused mandibular incisors semapv:UnspecifiedMatching MONDO:0007820 fused mandibular incisors skos:exactMatch SCTID:707796002 semapv:UnspecifiedMatching MONDO:0007820 fused mandibular incisors skos:exactMatch UMLS:C3494175 semapv:UnspecifiedMatching MONDO:0007821 obsolete immunoglobulin switch sequences skos:exactMatch OMIM:147260 immunoglobulin switch sequences semapv:UnspecifiedMatching MONDO:0007821 obsolete immunoglobulin switch sequences skos:exactMatch UMLS:C1840234 semapv:UnspecifiedMatching MONDO:0007822 obsolete incisors, long upper central skos:exactMatch OMIM:147300 incisors, long upper central semapv:UnspecifiedMatching MONDO:0007823 obsolete insulin receptors, familial increase 1N skos:exactMatch OMIM:147320 insulin receptors, familial increase 1n semapv:UnspecifiedMatching MONDO:0007824 incisors, lower central, absence of skos:exactMatch OMIM:147330 incisors, lower central, absence of semapv:UnspecifiedMatching MONDO:0007825 incisors, rotation of upper central skos:exactMatch OMIM:147350 incisors, rotation of upper central semapv:UnspecifiedMatching MONDO:0007826 incisors, shovel-shaped skos:exactMatch OMIM:147400 incisors, shovel-shaped semapv:UnspecifiedMatching MONDO:0007827 inclusion body myositis skos:exactMatch DOID:3429 inclusion body myositis semapv:UnspecifiedMatching MONDO:0007827 inclusion body myositis skos:exactMatch NCIT:C84786 Inclusion Body Myositis semapv:UnspecifiedMatching MONDO:0007827 inclusion body myositis skos:exactMatch OMIM:147421 inclusion body myositis semapv:UnspecifiedMatching MONDO:0007827 inclusion body myositis skos:exactMatch Orphanet:611 Inclusion body myositis semapv:UnspecifiedMatching MONDO:0007827 inclusion body myositis skos:exactMatch SCTID:72315009 semapv:UnspecifiedMatching MONDO:0007827 inclusion body myositis skos:exactMatch UMLS:C0238190 semapv:UnspecifiedMatching MONDO:0007827 inclusion body myositis skos:exactMatch mesh:D018979 semapv:UnspecifiedMatching MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:exactMatch DOID:0081075 Marsili syndrome semapv:UnspecifiedMatching MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:exactMatch OMIM:147430 marsili syndrome semapv:UnspecifiedMatching MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:exactMatch UMLS:C4538468 semapv:UnspecifiedMatching MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:exactMatch mesh:C564128 semapv:UnspecifiedMatching MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 skos:exactMatch DOID:0070228 intrahepatic cholestasis of pregnancy 1 semapv:UnspecifiedMatching MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 skos:exactMatch OMIM:147480 cholestasis, intrahepatic, of pregnancy, 1 semapv:UnspecifiedMatching MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 skos:exactMatch UMLS:C3549845 semapv:UnspecifiedMatching MONDO:0007830 insensitivity to pain with hyperplastic Myelinopathy skos:exactMatch OMIM:147530 insensitivity to pain with hyperplastic myelinopathy semapv:UnspecifiedMatching MONDO:0007831 insect Stings, hypersensitivity to skos:exactMatch OMIM:147540 insect stings, hypersensitivity to semapv:UnspecifiedMatching MONDO:0007832 interferon antiviral depressor skos:exactMatch OMIM:147560 interferon antiviral depressor semapv:UnspecifiedMatching MONDO:0007833 iris pigment layer, cleavage of skos:exactMatch OMIM:147610 iris pigment layer, cleavage of semapv:UnspecifiedMatching MONDO:0007834 islet cell adenomatosis skos:exactMatch NCIT:C4375 Nesidioblastosis semapv:UnspecifiedMatching MONDO:0007834 islet cell adenomatosis skos:exactMatch OMIM:147630 insulinomatosis and diabetes mellitus semapv:UnspecifiedMatching MONDO:0007834 islet cell adenomatosis skos:exactMatch SCTID:274944000 semapv:UnspecifiedMatching MONDO:0007834 islet cell adenomatosis skos:exactMatch UMLS:C1578917 semapv:UnspecifiedMatching MONDO:0007834 islet cell adenomatosis skos:exactMatch mesh:C563258 semapv:UnspecifiedMatching MONDO:0007835 intussusception skos:exactMatch DOID:8446 intussusception semapv:UnspecifiedMatching MONDO:0007835 intussusception skos:exactMatch ICD10CM:K56.1 Intussusception semapv:UnspecifiedMatching MONDO:0007835 intussusception skos:exactMatch OMIM:147710 intussusception semapv:UnspecifiedMatching MONDO:0007835 intussusception skos:exactMatch SCTID:49723003 semapv:UnspecifiedMatching MONDO:0007835 intussusception skos:exactMatch UMLS:C0021933 semapv:UnspecifiedMatching MONDO:0007835 intussusception skos:exactMatch mesh:D007443 semapv:UnspecifiedMatching MONDO:0007836 IVIC syndrome skos:exactMatch DOID:0111381 IVIC syndrome semapv:UnspecifiedMatching MONDO:0007836 IVIC syndrome skos:exactMatch OMIM:147750 ivic syndrome semapv:UnspecifiedMatching MONDO:0007836 IVIC syndrome skos:exactMatch Orphanet:2307 IVIC syndrome semapv:UnspecifiedMatching MONDO:0007836 IVIC syndrome skos:exactMatch SCTID:722019000 semapv:UnspecifiedMatching MONDO:0007836 IVIC syndrome skos:exactMatch UMLS:C1327918 semapv:UnspecifiedMatching MONDO:0007836 IVIC syndrome skos:exactMatch mesh:C535544 semapv:UnspecifiedMatching MONDO:0007837 Johnson neuroectodermal syndrome skos:exactMatch OMIM:147770 johnson neuroectodermal syndrome semapv:UnspecifiedMatching MONDO:0007837 Johnson neuroectodermal syndrome skos:exactMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:UnspecifiedMatching MONDO:0007837 Johnson neuroectodermal syndrome skos:exactMatch SCTID:721584005 semapv:UnspecifiedMatching MONDO:0007837 Johnson neuroectodermal syndrome skos:exactMatch UMLS:C0796002 semapv:UnspecifiedMatching MONDO:0007837 Johnson neuroectodermal syndrome skos:exactMatch mesh:C535882 semapv:UnspecifiedMatching MONDO:0007838 Jacobsen syndrome skos:exactMatch DOID:0111723 Jacobsen Syndrome semapv:UnspecifiedMatching MONDO:0007838 Jacobsen syndrome skos:exactMatch NCIT:C75457 Jacobsen Syndrome semapv:UnspecifiedMatching MONDO:0007838 Jacobsen syndrome skos:exactMatch OMIM:147791 jacobsen syndrome semapv:UnspecifiedMatching MONDO:0007838 Jacobsen syndrome skos:exactMatch Orphanet:2308 Jacobsen syndrome semapv:UnspecifiedMatching MONDO:0007838 Jacobsen syndrome skos:exactMatch SCTID:715438008 semapv:UnspecifiedMatching MONDO:0007838 Jacobsen syndrome skos:exactMatch UMLS:C0795841 semapv:UnspecifiedMatching MONDO:0007839 Aase-Smith syndrome skos:exactMatch OMIM:147800 aase-smith syndrome 1 semapv:UnspecifiedMatching MONDO:0007839 Aase-Smith syndrome skos:exactMatch Orphanet:916 Aase-Smith syndrome semapv:UnspecifiedMatching MONDO:0007839 Aase-Smith syndrome skos:exactMatch SCTID:718576001 semapv:UnspecifiedMatching MONDO:0007839 Aase-Smith syndrome skos:exactMatch UMLS:C0220686 semapv:UnspecifiedMatching MONDO:0007839 Aase-Smith syndrome skos:exactMatch mesh:C535332 semapv:UnspecifiedMatching MONDO:0007840 internal carotid artery, spontaneous dissection of skos:exactMatch OMIM:147820 internal carotid artery, spontaneous dissection of semapv:UnspecifiedMatching MONDO:0007840 internal carotid artery, spontaneous dissection of skos:exactMatch UMLS:C1840073 semapv:UnspecifiedMatching MONDO:0007840 internal carotid artery, spontaneous dissection of skos:exactMatch mesh:C564125 semapv:UnspecifiedMatching MONDO:0007841 coxopodopatellar syndrome skos:exactMatch DOID:0111382 ischiocoxopodopatellar syndrome semapv:UnspecifiedMatching MONDO:0007841 coxopodopatellar syndrome skos:exactMatch OMIM:147891 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension semapv:UnspecifiedMatching MONDO:0007841 coxopodopatellar syndrome skos:exactMatch Orphanet:1509 Coxopodopatellar syndrome semapv:UnspecifiedMatching MONDO:0007841 coxopodopatellar syndrome skos:exactMatch SCTID:720752007 semapv:UnspecifiedMatching MONDO:0007841 coxopodopatellar syndrome skos:exactMatch UMLS:C1840061 semapv:UnspecifiedMatching MONDO:0007841 coxopodopatellar syndrome skos:exactMatch mesh:C535540 semapv:UnspecifiedMatching MONDO:0007842 joint laxity, familial skos:exactMatch OMIM:147900 joint laxity, familial semapv:UnspecifiedMatching MONDO:0007842 joint laxity, familial skos:exactMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:UnspecifiedMatching MONDO:0007842 joint laxity, familial skos:exactMatch SCTID:71322004 semapv:UnspecifiedMatching MONDO:0007842 joint laxity, familial skos:exactMatch UMLS:C0268349 semapv:UnspecifiedMatching MONDO:0007842 joint laxity, familial skos:exactMatch mesh:C535884 semapv:UnspecifiedMatching MONDO:0007843 Kabuki syndrome 1 skos:exactMatch OMIM:147920 kabuki syndrome 1 semapv:UnspecifiedMatching MONDO:0007843 Kabuki syndrome 1 skos:exactMatch UMLS:CN030661 semapv:UnspecifiedMatching MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia semapv:UnspecifiedMatching MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia semapv:UnspecifiedMatching MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch UMLS:C1563720 semapv:UnspecifiedMatching MONDO:0007845 Kaposi sarcoma, susceptibility to skos:exactMatch OMIM:148000 kaposi sarcoma, susceptibility to semapv:UnspecifiedMatching MONDO:0007846 KBG syndrome skos:exactMatch DOID:14780 KBG syndrome semapv:UnspecifiedMatching MONDO:0007846 KBG syndrome skos:exactMatch OMIM:148050 kbg syndrome semapv:UnspecifiedMatching MONDO:0007846 KBG syndrome skos:exactMatch Orphanet:2332 KBG syndrome semapv:UnspecifiedMatching MONDO:0007846 KBG syndrome skos:exactMatch SCTID:711156009 semapv:UnspecifiedMatching MONDO:0007846 KBG syndrome skos:exactMatch UMLS:C0220687 semapv:UnspecifiedMatching MONDO:0007846 KBG syndrome skos:exactMatch mesh:C537015 semapv:UnspecifiedMatching MONDO:0007847 keloid formation skos:exactMatch OMIM:148100 keloid formation semapv:UnspecifiedMatching MONDO:0007848 autosomal dominant keratitis skos:exactMatch DOID:0111383 autosomal dominant keratitis semapv:UnspecifiedMatching MONDO:0007848 autosomal dominant keratitis skos:exactMatch OMIM:148190 keratitis, hereditary semapv:UnspecifiedMatching MONDO:0007848 autosomal dominant keratitis skos:exactMatch Orphanet:2334 Autosomal dominant keratitis semapv:UnspecifiedMatching MONDO:0007848 autosomal dominant keratitis skos:exactMatch SCTID:715339004 semapv:UnspecifiedMatching MONDO:0007848 autosomal dominant keratitis skos:exactMatch UMLS:C1835698 semapv:UnspecifiedMatching MONDO:0007848 autosomal dominant keratitis skos:exactMatch mesh:C537022 semapv:UnspecifiedMatching MONDO:0007849 keratitis fugax hereditaria skos:exactMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:UnspecifiedMatching MONDO:0007849 keratitis fugax hereditaria skos:exactMatch UMLS:C1835697 semapv:UnspecifiedMatching MONDO:0007849 keratitis fugax hereditaria skos:exactMatch mesh:C563650 semapv:UnspecifiedMatching MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:exactMatch DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome semapv:UnspecifiedMatching MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:exactMatch OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant semapv:UnspecifiedMatching MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:exactMatch UMLS:C0265336 semapv:UnspecifiedMatching MONDO:0007851 keratoconus 1 skos:exactMatch OMIM:148300 keratoconus 1 semapv:UnspecifiedMatching MONDO:0007851 keratoconus 1 skos:exactMatch UMLS:C1835677 semapv:UnspecifiedMatching MONDO:0007851 keratoconus 1 skos:exactMatch mesh:C563649 semapv:UnspecifiedMatching MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:exactMatch DOID:0111505 palmoplantar keratoderma-deafness syndrome semapv:UnspecifiedMatching MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:exactMatch OMIM:148350 keratoderma, palmoplantar, with deafness semapv:UnspecifiedMatching MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:exactMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:UnspecifiedMatching MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:exactMatch UMLS:C1835672 semapv:UnspecifiedMatching MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:exactMatch mesh:C536152 semapv:UnspecifiedMatching MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:exactMatch OMIM:148360 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy semapv:UnspecifiedMatching MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:exactMatch Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome semapv:UnspecifiedMatching MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:exactMatch mesh:C536153 semapv:UnspecifiedMatching MONDO:0007854 keratolytic winter erythema skos:exactMatch OMIM:148370 keratolytic winter erythema semapv:UnspecifiedMatching MONDO:0007854 keratolytic winter erythema skos:exactMatch Orphanet:50943 Keratolytic winter erythema semapv:UnspecifiedMatching MONDO:0007854 keratolytic winter erythema skos:exactMatch SCTID:239064000 semapv:UnspecifiedMatching MONDO:0007854 keratolytic winter erythema skos:exactMatch UMLS:C0406756 semapv:UnspecifiedMatching MONDO:0007854 keratolytic winter erythema skos:exactMatch mesh:C536155 semapv:UnspecifiedMatching MONDO:0007855 keratosis, familial actinic skos:exactMatch OMIM:148390 keratosis, familial actinic semapv:UnspecifiedMatching MONDO:0007855 keratosis, familial actinic skos:exactMatch UMLS:C2675099 semapv:UnspecifiedMatching MONDO:0007855 keratosis, familial actinic skos:exactMatch mesh:C567190 semapv:UnspecifiedMatching MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome semapv:UnspecifiedMatching MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch OMIM:148500 tylosis with esophageal cancer semapv:UnspecifiedMatching MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome semapv:UnspecifiedMatching MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch SCTID:111030006 semapv:UnspecifiedMatching MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch mesh:C536164 semapv:UnspecifiedMatching MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:exactMatch OMIM:148520 keratosis palmaris et plantaris with clinodactyly semapv:UnspecifiedMatching MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:exactMatch Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome semapv:UnspecifiedMatching MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:exactMatch UMLS:C1835663 semapv:UnspecifiedMatching MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:exactMatch mesh:C563646 semapv:UnspecifiedMatching MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:exactMatch DOID:0080214 punctate palmoplantar keratoderma type I semapv:UnspecifiedMatching MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:exactMatch OMIM:148600 palmoplantar keratoderma, punctate iia 1a semapv:UnspecifiedMatching MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:exactMatch DOID:0081108 keratosis palmoplantaris striata 1 semapv:UnspecifiedMatching MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:exactMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:UnspecifiedMatching MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:exactMatch mesh:C536162 semapv:UnspecifiedMatching MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch OMIM:148730 keratosis, focal palmoplantar and gingival semapv:UnspecifiedMatching MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch Orphanet:2200 Focal palmoplantar and gingival keratoderma semapv:UnspecifiedMatching MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch SCTID:764963007 semapv:UnspecifiedMatching MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch UMLS:C1835650 semapv:UnspecifiedMatching MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch mesh:C536157 semapv:UnspecifiedMatching MONDO:0007861 isolated cloverleaf skull syndrome skos:exactMatch OMIM:148800 kleeblattschaedel semapv:UnspecifiedMatching MONDO:0007861 isolated cloverleaf skull syndrome skos:exactMatch SCTID:254022009 semapv:UnspecifiedMatching MONDO:0007861 isolated cloverleaf skull syndrome skos:exactMatch UMLS:C0432126 semapv:UnspecifiedMatching MONDO:0007861 isolated cloverleaf skull syndrome skos:exactMatch mesh:C536884 semapv:UnspecifiedMatching MONDO:0007862 Waardenburg syndrome type 3 skos:exactMatch DOID:0110949 Waardenburg syndrome type 3 semapv:UnspecifiedMatching MONDO:0007862 Waardenburg syndrome type 3 skos:exactMatch OMIM:148820 waardenburg syndrome, iia 3 semapv:UnspecifiedMatching MONDO:0007862 Waardenburg syndrome type 3 skos:exactMatch Orphanet:896 Waardenburg syndrome type 3 semapv:UnspecifiedMatching MONDO:0007863 Kleine-Levin syndrome skos:exactMatch DOID:0060165 Kleine-Levin syndrome semapv:UnspecifiedMatching MONDO:0007863 Kleine-Levin syndrome skos:exactMatch NCIT:C84800 Kleine-Levin Syndrome semapv:UnspecifiedMatching MONDO:0007863 Kleine-Levin syndrome skos:exactMatch OMIM:148840 kleine-levin hibernation syndrome semapv:UnspecifiedMatching MONDO:0007863 Kleine-Levin syndrome skos:exactMatch Orphanet:33543 Kleine-Levin syndrome semapv:UnspecifiedMatching MONDO:0007863 Kleine-Levin syndrome skos:exactMatch SCTID:111488004 semapv:UnspecifiedMatching MONDO:0007863 Kleine-Levin syndrome skos:exactMatch UMLS:C0206085 semapv:UnspecifiedMatching MONDO:0007863 Kleine-Levin syndrome skos:exactMatch mesh:D017593 semapv:UnspecifiedMatching MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch DOID:2926 Klippel-Trenaunay syndrome semapv:UnspecifiedMatching MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch NCIT:C84801 Klippel-Trenaunay-Weber Syndrome semapv:UnspecifiedMatching MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch OMIM:149000 klippel-trenaunay-weber syndrome semapv:UnspecifiedMatching MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:UnspecifiedMatching MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch Orphanet:90308 Klippel-Trénaunay syndrome semapv:UnspecifiedMatching MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch SCTID:721105004 semapv:UnspecifiedMatching MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch UMLS:C0022739 semapv:UnspecifiedMatching MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch mesh:D007715 semapv:UnspecifiedMatching MONDO:0007865 knuckle pads skos:exactMatch ICD10CM:M72.1 Knuckle pads semapv:UnspecifiedMatching MONDO:0007865 knuckle pads skos:exactMatch OMIM:149100 knuckle pads semapv:UnspecifiedMatching MONDO:0007865 knuckle pads skos:exactMatch SCTID:16687001 semapv:UnspecifiedMatching MONDO:0007865 knuckle pads skos:exactMatch UMLS:C0264000 semapv:UnspecifiedMatching MONDO:0007866 Bart-Pumphrey syndrome skos:exactMatch DOID:0050658 Bart-Pumphrey syndrome semapv:UnspecifiedMatching MONDO:0007866 Bart-Pumphrey syndrome skos:exactMatch OMIM:149200 bart-pumphrey syndrome semapv:UnspecifiedMatching MONDO:0007866 Bart-Pumphrey syndrome skos:exactMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:UnspecifiedMatching MONDO:0007866 Bart-Pumphrey syndrome skos:exactMatch SCTID:1271009 semapv:UnspecifiedMatching MONDO:0007866 Bart-Pumphrey syndrome skos:exactMatch mesh:C537210 semapv:UnspecifiedMatching MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:exactMatch DOID:0080080 nonsyndromic congenital nail disorder 2 semapv:UnspecifiedMatching MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:exactMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:UnspecifiedMatching MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:exactMatch SCTID:66270006 semapv:UnspecifiedMatching MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:exactMatch mesh:C537260 semapv:UnspecifiedMatching MONDO:0007868 hyperekplexia 1 skos:exactMatch DOID:0060696 hyperekplexia 1 semapv:UnspecifiedMatching MONDO:0007868 hyperekplexia 1 skos:exactMatch OMIM:149400 hyperekplexia 1 semapv:UnspecifiedMatching MONDO:0007869 Kyrle disease skos:exactMatch OMIM:149500 kyrle disease semapv:UnspecifiedMatching MONDO:0007869 Kyrle disease skos:exactMatch SCTID:34042008 semapv:UnspecifiedMatching MONDO:0007869 Kyrle disease skos:exactMatch UMLS:C0263382 semapv:UnspecifiedMatching MONDO:0007869 Kyrle disease skos:exactMatch mesh:C538130 semapv:UnspecifiedMatching MONDO:0007870 labia minora, incomplete adhesion of skos:exactMatch OMIM:149600 labia minora, incomplete adhesion of semapv:UnspecifiedMatching MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:exactMatch OMIM:149700 lacrimal duct defect semapv:UnspecifiedMatching MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:exactMatch Orphanet:451612 Familial congenital nasolacrimal duct obstruction semapv:UnspecifiedMatching MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:exactMatch mesh:C566703 semapv:UnspecifiedMatching MONDO:0007872 LADD syndrome skos:exactMatch DOID:0050331 lacrimoauriculodentodigital syndrome 1 semapv:UnspecifiedMatching MONDO:0007872 LADD syndrome skos:exactMatch OMIMPS:149730 semapv:UnspecifiedMatching MONDO:0007872 LADD syndrome skos:exactMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:UnspecifiedMatching MONDO:0007872 LADD syndrome skos:exactMatch SCTID:23817003 semapv:UnspecifiedMatching MONDO:0007872 LADD syndrome skos:exactMatch UMLS:C0265269 semapv:UnspecifiedMatching MONDO:0007872 LADD syndrome skos:exactMatch mesh:C538132 semapv:UnspecifiedMatching MONDO:0007873 lactic acidosis, chronic adult form skos:exactMatch OMIM:150170 lactic acidosis, chronic adult form semapv:UnspecifiedMatching MONDO:0007873 lactic acidosis, chronic adult form skos:exactMatch UMLS:C1835591 semapv:UnspecifiedMatching MONDO:0007873 lactic acidosis, chronic adult form skos:exactMatch mesh:C563640 semapv:UnspecifiedMatching MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch DOID:4998 trichorhinophalangeal syndrome type II semapv:UnspecifiedMatching MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch NCIT:C75118 Trichorhinophalangeal Syndrome Type II semapv:UnspecifiedMatching MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch OMIM:150230 trichorhinophalangeal syndrome, iia 2 semapv:UnspecifiedMatching MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:UnspecifiedMatching MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch SCTID:41069008 semapv:UnspecifiedMatching MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch UMLS:C0023003 semapv:UnspecifiedMatching MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch mesh:D015826 semapv:UnspecifiedMatching MONDO:0007875 Larsen syndrome skos:exactMatch DOID:14764 Larsen syndrome semapv:UnspecifiedMatching MONDO:0007875 Larsen syndrome skos:exactMatch OMIM:150250 larsen syndrome semapv:UnspecifiedMatching MONDO:0007875 Larsen syndrome skos:exactMatch Orphanet:503 Larsen syndrome semapv:UnspecifiedMatching MONDO:0007875 Larsen syndrome skos:exactMatch SCTID:63387002 semapv:UnspecifiedMatching MONDO:0007875 Larsen syndrome skos:exactMatch UMLS:C0175778 semapv:UnspecifiedMatching MONDO:0007875 Larsen syndrome skos:exactMatch mesh:C580241 semapv:UnspecifiedMatching MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:150260 laryngeal abductor paralysis semapv:UnspecifiedMatching MONDO:0007876 laryngeal abductor paralysis skos:exactMatch Orphanet:2808 Laryngeal abductor paralysis semapv:UnspecifiedMatching MONDO:0007876 laryngeal abductor paralysis skos:exactMatch SCTID:232442001 semapv:UnspecifiedMatching MONDO:0007876 laryngeal abductor paralysis skos:exactMatch UMLS:C0396059 semapv:UnspecifiedMatching MONDO:0007877 laryngeal adductor paralysis skos:exactMatch OMIM:150270 laryngeal adductor paralysis semapv:UnspecifiedMatching MONDO:0007877 laryngeal adductor paralysis skos:exactMatch mesh:C562861 semapv:UnspecifiedMatching MONDO:0007878 congenital laryngomalacia skos:exactMatch DOID:0080833 laryngomalacia semapv:UnspecifiedMatching MONDO:0007878 congenital laryngomalacia skos:exactMatch ICD10CM:Q31.5 Congenital laryngomalacia semapv:UnspecifiedMatching MONDO:0007878 congenital laryngomalacia skos:exactMatch NCIT:C98971 Laryngomalacia semapv:UnspecifiedMatching MONDO:0007878 congenital laryngomalacia skos:exactMatch OMIM:150280 laryngomalacia semapv:UnspecifiedMatching MONDO:0007878 congenital laryngomalacia skos:exactMatch Orphanet:2373 Congenital laryngomalacia semapv:UnspecifiedMatching MONDO:0007878 congenital laryngomalacia skos:exactMatch SCTID:253737007 semapv:UnspecifiedMatching MONDO:0007878 congenital laryngomalacia skos:exactMatch mesh:D055092 semapv:UnspecifiedMatching MONDO:0007879 larynx atresia skos:exactMatch NCIT:C98972 Laryngeal Atresia semapv:UnspecifiedMatching MONDO:0007879 larynx atresia skos:exactMatch OMIM:150300 larynx, congenital partial atresia of semapv:UnspecifiedMatching MONDO:0007879 larynx atresia skos:exactMatch Orphanet:1202 Larynx atresia semapv:UnspecifiedMatching MONDO:0007879 larynx atresia skos:exactMatch SCTID:64981002 semapv:UnspecifiedMatching MONDO:0007879 larynx atresia skos:exactMatch UMLS:C0265756 semapv:UnspecifiedMatching MONDO:0007879 larynx atresia skos:exactMatch mesh:C563637 semapv:UnspecifiedMatching MONDO:0007880 congenital laryngeal web skos:exactMatch NCIT:C98970 Laryngeal Web semapv:UnspecifiedMatching MONDO:0007880 congenital laryngeal web skos:exactMatch OMIM:150360 laryngeal web, familial semapv:UnspecifiedMatching MONDO:0007880 congenital laryngeal web skos:exactMatch Orphanet:2374 Congenital laryngeal web semapv:UnspecifiedMatching MONDO:0007880 congenital laryngeal web skos:exactMatch SCTID:444921008 semapv:UnspecifiedMatching MONDO:0007880 congenital laryngeal web skos:exactMatch mesh:C537676 semapv:UnspecifiedMatching MONDO:0007880 congenital laryngeal web skos:exactMatch mesh:C563636 semapv:UnspecifiedMatching MONDO:0007881 tooth agenesis, selective, 4 skos:exactMatch OMIM:150400 tooth agenesis, selective, 4 semapv:UnspecifiedMatching MONDO:0007881 tooth agenesis, selective, 4 skos:exactMatch mesh:C563634 semapv:UnspecifiedMatching MONDO:0007882 lattice degeneration of retina leading to retinal detachment skos:exactMatch OMIM:150500 lattice degeneration of retina leading to retinal detachment semapv:UnspecifiedMatching MONDO:0007882 lattice degeneration of retina leading to retinal detachment skos:exactMatch UMLS:C1835491 semapv:UnspecifiedMatching MONDO:0007882 lattice degeneration of retina leading to retinal detachment skos:exactMatch mesh:C563633 semapv:UnspecifiedMatching MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:exactMatch OMIM:150550 periodic fever, immunodeficiency, and thrombocytopenia syndrome semapv:UnspecifiedMatching MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:exactMatch SCTID:71436005 semapv:UnspecifiedMatching MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:exactMatch UMLS:C0272174 semapv:UnspecifiedMatching MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:exactMatch mesh:C562721 semapv:UnspecifiedMatching MONDO:0007884 leg ulcers, familial, of juvenile onset skos:exactMatch OMIM:150590 leg ulcers, familial, of juvenile onset semapv:UnspecifiedMatching MONDO:0007884 leg ulcers, familial, of juvenile onset skos:exactMatch UMLS:C1835489 semapv:UnspecifiedMatching MONDO:0007884 leg ulcers, familial, of juvenile onset skos:exactMatch mesh:C563632 semapv:UnspecifiedMatching MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch DOID:14415 Legg-Calve-Perthes disease semapv:UnspecifiedMatching MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch NCIT:C34766 Perthes Disease semapv:UnspecifiedMatching MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch OMIM:150600 legg-calve-perthes disease semapv:UnspecifiedMatching MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:UnspecifiedMatching MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch SCTID:15739006 semapv:UnspecifiedMatching MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch UMLS:C0023234 semapv:UnspecifiedMatching MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch mesh:D007873 semapv:UnspecifiedMatching MONDO:0007886 uterine corpus leiomyoma skos:exactMatch DOID:13223 uterine fibroid semapv:UnspecifiedMatching MONDO:0007886 uterine corpus leiomyoma skos:exactMatch NCIT:C3434 Uterine Corpus Leiomyoma semapv:UnspecifiedMatching MONDO:0007886 uterine corpus leiomyoma skos:exactMatch OMIM:150699 leiomyoma, uterine semapv:UnspecifiedMatching MONDO:0007886 uterine corpus leiomyoma skos:exactMatch SCTID:95315005 semapv:UnspecifiedMatching MONDO:0007886 uterine corpus leiomyoma skos:exactMatch UMLS:C0042133 semapv:UnspecifiedMatching MONDO:0007887 leiomyoma of vulva and esophagus skos:exactMatch OMIM:150700 leiomyoma of vulva and esophagus semapv:UnspecifiedMatching MONDO:0007887 leiomyoma of vulva and esophagus skos:exactMatch UMLS:C1835488 semapv:UnspecifiedMatching MONDO:0007887 leiomyoma of vulva and esophagus skos:exactMatch mesh:C537006 semapv:UnspecifiedMatching MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:exactMatch NCIT:C51302 Hereditary Leiomyomatosis and Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:exactMatch OMIM:150800 hereditary leiomyomatosis and renal cell cancer semapv:UnspecifiedMatching MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:exactMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:UnspecifiedMatching MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:exactMatch UMLS:C1708350 semapv:UnspecifiedMatching MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:exactMatch mesh:C535516 semapv:UnspecifiedMatching MONDO:0007890 lentiginosis, centrofacial neurodysraphic skos:exactMatch OMIM:151000 lentiginosis, centrofacial neurodysraphic semapv:UnspecifiedMatching MONDO:0007890 lentiginosis, centrofacial neurodysraphic skos:exactMatch UMLS:C1835484 semapv:UnspecifiedMatching MONDO:0007890 lentiginosis, centrofacial neurodysraphic skos:exactMatch mesh:C563630 semapv:UnspecifiedMatching MONDO:0007891 familial generalized lentiginosis skos:exactMatch OMIM:151001 lentiginosis, inherited patterned semapv:UnspecifiedMatching MONDO:0007891 familial generalized lentiginosis skos:exactMatch Orphanet:231040 Familial generalized lentiginosis semapv:UnspecifiedMatching MONDO:0007891 familial generalized lentiginosis skos:exactMatch SCTID:765195000 semapv:UnspecifiedMatching MONDO:0007891 familial generalized lentiginosis skos:exactMatch UMLS:C3492944 semapv:UnspecifiedMatching MONDO:0007891 familial generalized lentiginosis skos:exactMatch mesh:C573023 semapv:UnspecifiedMatching MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:exactMatch DOID:0111507 Lenz-Majewski hyperostotic dwarfism semapv:UnspecifiedMatching MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:exactMatch OMIM:151050 lenz-majewski hyperostotic dwarfism semapv:UnspecifiedMatching MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:exactMatch Orphanet:2658 Lenz-Majewski hyperostotic dwarfism semapv:UnspecifiedMatching MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:exactMatch mesh:C537115 semapv:UnspecifiedMatching MONDO:0007893 Noonan syndrome with multiple lentigines skos:exactMatch DOID:14291 Noonan syndrome with multiple lentigines semapv:UnspecifiedMatching MONDO:0007893 Noonan syndrome with multiple lentigines skos:exactMatch NCIT:C84820 LEOPARD Syndrome semapv:UnspecifiedMatching MONDO:0007893 Noonan syndrome with multiple lentigines skos:exactMatch OMIMPS:151100 semapv:UnspecifiedMatching MONDO:0007893 Noonan syndrome with multiple lentigines skos:exactMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:UnspecifiedMatching MONDO:0007893 Noonan syndrome with multiple lentigines skos:exactMatch SCTID:111306001 semapv:UnspecifiedMatching MONDO:0007893 Noonan syndrome with multiple lentigines skos:exactMatch UMLS:C0175704 semapv:UnspecifiedMatching MONDO:0007893 Noonan syndrome with multiple lentigines skos:exactMatch mesh:D044542 semapv:UnspecifiedMatching MONDO:0007894 Leri pleonosteosis skos:exactMatch OMIM:151200 chromosome 8q22.1 duplication syndrome semapv:UnspecifiedMatching MONDO:0007894 Leri pleonosteosis skos:exactMatch Orphanet:2900 Leri pleonosteosis semapv:UnspecifiedMatching MONDO:0007894 Leri pleonosteosis skos:exactMatch UMLS:C1835450 semapv:UnspecifiedMatching MONDO:0007894 Leri pleonosteosis skos:exactMatch mesh:C537118 semapv:UnspecifiedMatching MONDO:0007895 platyspondylic dysplasia, Torrance type skos:exactMatch DOID:0111508 Torrance type platyspondylic dysplasia semapv:UnspecifiedMatching MONDO:0007895 platyspondylic dysplasia, Torrance type skos:exactMatch OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia semapv:UnspecifiedMatching MONDO:0007895 platyspondylic dysplasia, Torrance type skos:exactMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:UnspecifiedMatching MONDO:0007895 platyspondylic dysplasia, Torrance type skos:exactMatch UMLS:C1835437 semapv:UnspecifiedMatching MONDO:0007895 platyspondylic dysplasia, Torrance type skos:exactMatch mesh:C563627 semapv:UnspecifiedMatching MONDO:0007896 acute monocytic leukemia skos:exactMatch DOID:8864 acute monocytic leukemia semapv:UnspecifiedMatching MONDO:0007896 acute monocytic leukemia skos:exactMatch NCIT:C4861 Acute Monocytic Leukemia semapv:UnspecifiedMatching MONDO:0007896 acute monocytic leukemia skos:exactMatch OMIM:151380 leukemia, acute monocytic semapv:UnspecifiedMatching MONDO:0007896 acute monocytic leukemia skos:exactMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:UnspecifiedMatching MONDO:0007896 acute monocytic leukemia skos:exactMatch SCTID:413441006 semapv:UnspecifiedMatching MONDO:0007896 acute monocytic leukemia skos:exactMatch UMLS:C0023465 semapv:UnspecifiedMatching MONDO:0007896 acute monocytic leukemia skos:exactMatch mesh:D007948 semapv:UnspecifiedMatching MONDO:0007898 leukocyte nuclear appendages, hereditary prevalence of skos:exactMatch OMIM:151500 leukocyte nuclear appendages, hereditary prevalence of semapv:UnspecifiedMatching MONDO:0007898 leukocyte nuclear appendages, hereditary prevalence of skos:exactMatch UMLS:C1835405 semapv:UnspecifiedMatching MONDO:0007898 leukocyte nuclear appendages, hereditary prevalence of skos:exactMatch mesh:C563626 semapv:UnspecifiedMatching MONDO:0007899 lichen sclerosus et atrophicus skos:exactMatch ICD10CM:L90.0 Lichen sclerosus et atrophicus semapv:UnspecifiedMatching MONDO:0007899 lichen sclerosus et atrophicus skos:exactMatch NCIT:C26817 Lichen Sclerosus et Atrophicus semapv:UnspecifiedMatching MONDO:0007899 lichen sclerosus et atrophicus skos:exactMatch OMIM:151590 lichen sclerosus et atrophicus semapv:UnspecifiedMatching MONDO:0007899 lichen sclerosus et atrophicus skos:exactMatch SCTID:25674000 semapv:UnspecifiedMatching MONDO:0007899 lichen sclerosus et atrophicus skos:exactMatch UMLS:C0023652 semapv:UnspecifiedMatching MONDO:0007899 lichen sclerosus et atrophicus skos:exactMatch mesh:D018459 semapv:UnspecifiedMatching MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:exactMatch DOID:0080081 nonsyndromic congenital nail disorder 3 semapv:UnspecifiedMatching MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:exactMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:UnspecifiedMatching MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:exactMatch SCTID:74102009 semapv:UnspecifiedMatching MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:exactMatch mesh:C537289 semapv:UnspecifiedMatching MONDO:0007901 levator-medial rectus synkinesis skos:exactMatch OMIM:151610 oculomotor-levator synkinesis semapv:UnspecifiedMatching MONDO:0007901 levator-medial rectus synkinesis skos:exactMatch UMLS:C1835403 semapv:UnspecifiedMatching MONDO:0007901 levator-medial rectus synkinesis skos:exactMatch mesh:C563625 semapv:UnspecifiedMatching MONDO:0007902 lichen planus, familial skos:exactMatch OMIM:151620 lichen planus, familial semapv:UnspecifiedMatching MONDO:0007902 lichen planus, familial skos:exactMatch UMLS:C1835402 semapv:UnspecifiedMatching MONDO:0007902 lichen planus, familial skos:exactMatch mesh:C563624 semapv:UnspecifiedMatching MONDO:0007903 obsolete Li-Fraumeni syndrome 1 skos:exactMatch UMLS:C1835398 semapv:UnspecifiedMatching MONDO:0007904 median nodule of the upper lip skos:exactMatch OMIM:151630 lip, median nodule of upper semapv:UnspecifiedMatching MONDO:0007904 median nodule of the upper lip skos:exactMatch Orphanet:2699 Median nodule of the upper lip semapv:UnspecifiedMatching MONDO:0007904 median nodule of the upper lip skos:exactMatch SCTID:722034006 semapv:UnspecifiedMatching MONDO:0007904 median nodule of the upper lip skos:exactMatch UMLS:C1835396 semapv:UnspecifiedMatching MONDO:0007905 lip, hamartomatous skos:exactMatch OMIM:151640 lip, hamartomatous semapv:UnspecifiedMatching MONDO:0007905 lip, hamartomatous skos:exactMatch UMLS:C1835395 semapv:UnspecifiedMatching MONDO:0007905 lip, hamartomatous skos:exactMatch mesh:C563621 semapv:UnspecifiedMatching MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:exactMatch DOID:0070202 familial partial lipodystrophy type 2 semapv:UnspecifiedMatching MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:exactMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:UnspecifiedMatching MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:exactMatch Orphanet:2348 Familial partial lipodystrophy, Dunnigan type semapv:UnspecifiedMatching MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:exactMatch SCTID:715439000 semapv:UnspecifiedMatching MONDO:0007907 lipoma of the conjunctiva skos:exactMatch OMIM:151700 lipoma of the conjunctiva semapv:UnspecifiedMatching MONDO:0007907 lipoma of the conjunctiva skos:exactMatch UMLS:C1835373 semapv:UnspecifiedMatching MONDO:0007907 lipoma of the conjunctiva skos:exactMatch mesh:C563620 semapv:UnspecifiedMatching MONDO:0007908 multiple symmetric lipomatosis skos:exactMatch DOID:14116 multiple symmetric lipomatosis semapv:UnspecifiedMatching MONDO:0007908 multiple symmetric lipomatosis skos:exactMatch NCIT:C4392 Cervical Symmetrical Lipomatosis semapv:UnspecifiedMatching MONDO:0007908 multiple symmetric lipomatosis skos:exactMatch OMIM:151800 lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy semapv:UnspecifiedMatching MONDO:0007908 multiple symmetric lipomatosis skos:exactMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:UnspecifiedMatching MONDO:0007908 multiple symmetric lipomatosis skos:exactMatch SCTID:238902007 semapv:UnspecifiedMatching MONDO:0007908 multiple symmetric lipomatosis skos:exactMatch UMLS:C0023804 semapv:UnspecifiedMatching MONDO:0007909 familial multiple lipomatosis skos:exactMatch OMIM:151900 lipomatosis, familial multiple semapv:UnspecifiedMatching MONDO:0007909 familial multiple lipomatosis skos:exactMatch Orphanet:199276 Familial multiple lipomatosis semapv:UnspecifiedMatching MONDO:0007909 familial multiple lipomatosis skos:exactMatch SCTID:766888002 semapv:UnspecifiedMatching MONDO:0007909 familial multiple lipomatosis skos:exactMatch mesh:D000071070 semapv:UnspecifiedMatching MONDO:0007910 lipoprotein types--Lt system skos:exactMatch OMIM:152300 lipoprotein types--lt system semapv:UnspecifiedMatching MONDO:0007910 lipoprotein types--Lt system skos:exactMatch UMLS:C1835359 semapv:UnspecifiedMatching MONDO:0007911 lipoprotein, variant of beta skos:exactMatch OMIM:152400 lipoprotein, variant of beta semapv:UnspecifiedMatching MONDO:0007912 lithium transport skos:exactMatch OMIM:152420 lithium transport semapv:UnspecifiedMatching MONDO:0007913 low density lipoprotein, variation in molecular weight of skos:exactMatch OMIM:152450 low density lipoprotein, variation 1n molecular weight of semapv:UnspecifiedMatching MONDO:0007914 lumbar stenosis, familial skos:exactMatch OMIM:152550 lumbar stenosis, familial semapv:UnspecifiedMatching MONDO:0007914 lumbar stenosis, familial skos:exactMatch UMLS:C1835320 semapv:UnspecifiedMatching MONDO:0007914 lumbar stenosis, familial skos:exactMatch mesh:C563613 semapv:UnspecifiedMatching MONDO:0007915 systemic lupus erythematosus skos:exactMatch DOID:9074 systemic lupus erythematosus semapv:UnspecifiedMatching MONDO:0007915 systemic lupus erythematosus skos:exactMatch NCIT:C3201 Systemic Lupus Erythematosus semapv:UnspecifiedMatching MONDO:0007915 systemic lupus erythematosus skos:exactMatch OMIM:152700 systemic lupus erythematosus semapv:UnspecifiedMatching MONDO:0007915 systemic lupus erythematosus skos:exactMatch Orphanet:536 Systemic lupus erythematosus semapv:UnspecifiedMatching MONDO:0007915 systemic lupus erythematosus skos:exactMatch SCTID:55464009 semapv:UnspecifiedMatching MONDO:0007915 systemic lupus erythematosus skos:exactMatch mesh:D008180 semapv:UnspecifiedMatching MONDO:0007916 primary intestinal lymphangiectasia skos:exactMatch OMIM:152800 lymphangiectasia, intestinal semapv:UnspecifiedMatching MONDO:0007916 primary intestinal lymphangiectasia skos:exactMatch Orphanet:90362 Primary intestinal lymphangiectasia semapv:UnspecifiedMatching MONDO:0007916 primary intestinal lymphangiectasia skos:exactMatch SCTID:6124009 semapv:UnspecifiedMatching MONDO:0007916 primary intestinal lymphangiectasia skos:exactMatch UMLS:C2931241 semapv:UnspecifiedMatching MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:exactMatch OMIM:152900 lymphedema and cerebral arteriovenous anomaly semapv:UnspecifiedMatching MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:exactMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:UnspecifiedMatching MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:exactMatch UMLS:C1835272 semapv:UnspecifiedMatching MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:exactMatch mesh:C563612 semapv:UnspecifiedMatching MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:exactMatch DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation semapv:UnspecifiedMatching MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:exactMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:UnspecifiedMatching MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:exactMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:UnspecifiedMatching MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:exactMatch UMLS:C1835265 semapv:UnspecifiedMatching MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:exactMatch mesh:C537711 semapv:UnspecifiedMatching MONDO:0007919 lymphatic malformation 1 skos:exactMatch DOID:0070210 hereditary lymphedema IA semapv:UnspecifiedMatching MONDO:0007919 lymphatic malformation 1 skos:exactMatch DOID:0070212 hereditary lymphedema I semapv:UnspecifiedMatching MONDO:0007919 lymphatic malformation 1 skos:exactMatch OMIM:153100 lymphatic malformation 1 semapv:UnspecifiedMatching MONDO:0007919 lymphatic malformation 1 skos:exactMatch Orphanet:79452 Milroy disease semapv:UnspecifiedMatching MONDO:0007919 lymphatic malformation 1 skos:exactMatch SCTID:399889006 semapv:UnspecifiedMatching MONDO:0007920 lymphatic malformation 5 skos:exactMatch DOID:0070213 hereditary lymphedema II semapv:UnspecifiedMatching MONDO:0007920 lymphatic malformation 5 skos:exactMatch OMIM:153200 lymphatic malformation 5 semapv:UnspecifiedMatching MONDO:0007920 lymphatic malformation 5 skos:exactMatch Orphanet:90186 Meige disease semapv:UnspecifiedMatching MONDO:0007920 lymphatic malformation 5 skos:exactMatch SCTID:400040008 semapv:UnspecifiedMatching MONDO:0007920 lymphatic malformation 5 skos:exactMatch mesh:C562467 semapv:UnspecifiedMatching MONDO:0007921 yellow nail syndrome skos:exactMatch DOID:0050468 yellow nail syndrome semapv:UnspecifiedMatching MONDO:0007921 yellow nail syndrome skos:exactMatch ICD10CM:L60.5 Yellow nail syndrome semapv:UnspecifiedMatching MONDO:0007921 yellow nail syndrome skos:exactMatch NCIT:C85238 Yellow Nail Syndrome semapv:UnspecifiedMatching MONDO:0007921 yellow nail syndrome skos:exactMatch OMIM:153300 yellow nail syndrome semapv:UnspecifiedMatching MONDO:0007921 yellow nail syndrome skos:exactMatch Orphanet:662 Yellow nail syndrome semapv:UnspecifiedMatching MONDO:0007921 yellow nail syndrome skos:exactMatch SCTID:400211001 semapv:UnspecifiedMatching MONDO:0007921 yellow nail syndrome skos:exactMatch UMLS:C0221348 semapv:UnspecifiedMatching MONDO:0007921 yellow nail syndrome skos:exactMatch mesh:D056684 semapv:UnspecifiedMatching MONDO:0007922 lymphedema-distichiasis syndrome skos:exactMatch DOID:0111509 lymphedema-distichiasis syndrome semapv:UnspecifiedMatching MONDO:0007922 lymphedema-distichiasis syndrome skos:exactMatch NCIT:C128191 Lymphedema-Distichiasis Syndrome semapv:UnspecifiedMatching MONDO:0007922 lymphedema-distichiasis syndrome skos:exactMatch OMIM:153400 lymphedema-distichiasis syndrome semapv:UnspecifiedMatching MONDO:0007922 lymphedema-distichiasis syndrome skos:exactMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:UnspecifiedMatching MONDO:0007922 lymphedema-distichiasis syndrome skos:exactMatch SCTID:8634009 semapv:UnspecifiedMatching MONDO:0007922 lymphedema-distichiasis syndrome skos:exactMatch UMLS:C0265345 semapv:UnspecifiedMatching MONDO:0007922 lymphedema-distichiasis syndrome skos:exactMatch mesh:C537710 semapv:UnspecifiedMatching MONDO:0007923 macrocephaly, benign familial skos:exactMatch OMIM:153470 macrocephaly, benign familial semapv:UnspecifiedMatching MONDO:0007923 macrocephaly, benign familial skos:exactMatch mesh:C537717 semapv:UnspecifiedMatching MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome semapv:UnspecifiedMatching MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch NCIT:C3939 Bannayan-Riley-Ruvalcaba Syndrome semapv:UnspecifiedMatching MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:UnspecifiedMatching MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch SCTID:21984008 semapv:UnspecifiedMatching MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch UMLS:C0265326 semapv:UnspecifiedMatching MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch DOID:0090016 chromosome 5q deletion syndrome semapv:UnspecifiedMatching MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch NCIT:C6867 Myelodysplastic Syndrome with del(5q) semapv:UnspecifiedMatching MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch OMIM:153550 chromosome 5q deletion syndrome semapv:UnspecifiedMatching MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality semapv:UnspecifiedMatching MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch SCTID:277597005 semapv:UnspecifiedMatching MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch UMLS:C0740302 semapv:UnspecifiedMatching MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch mesh:C535323 semapv:UnspecifiedMatching MONDO:0007927 congenital macroglossia skos:exactMatch OMIM:153630 macroglossia semapv:UnspecifiedMatching MONDO:0007927 congenital macroglossia skos:exactMatch Orphanet:2430 Congenital macroglossia semapv:UnspecifiedMatching MONDO:0007927 congenital macroglossia skos:exactMatch SCTID:270516002 semapv:UnspecifiedMatching MONDO:0007927 congenital macroglossia skos:exactMatch mesh:C531735 semapv:UnspecifiedMatching MONDO:0007928 obsolete Fechtner syndrome skos:exactMatch NCIT:C131642 Fechtner Syndrome semapv:UnspecifiedMatching MONDO:0007928 obsolete Fechtner syndrome skos:exactMatch UMLS:C0403445 semapv:UnspecifiedMatching MONDO:0007929 obsolete Epstein syndrome skos:exactMatch NCIT:C131639 Epstein Syndrome semapv:UnspecifiedMatching MONDO:0007929 obsolete Epstein syndrome skos:exactMatch UMLS:C0398641 semapv:UnspecifiedMatching MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant skos:exactMatch DOID:0111059 Bernard-Soulier syndrome type A2 semapv:UnspecifiedMatching MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant skos:exactMatch OMIM:153670 bernard-soulier syndrome, iia a2, autosomal dominant semapv:UnspecifiedMatching MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant skos:exactMatch UMLS:C3277076 semapv:UnspecifiedMatching MONDO:0007931 vitelliform macular dystrophy 2 skos:exactMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:UnspecifiedMatching MONDO:0007931 vitelliform macular dystrophy 2 skos:exactMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:UnspecifiedMatching MONDO:0007931 vitelliform macular dystrophy 2 skos:exactMatch SCTID:763387005 semapv:UnspecifiedMatching MONDO:0007932 age related macular degeneration 2 skos:exactMatch DOID:0110015 age related macular degeneration 2 semapv:UnspecifiedMatching MONDO:0007932 age related macular degeneration 2 skos:exactMatch OMIM:153800 macular degeneration, age-related, 2 semapv:UnspecifiedMatching MONDO:0007932 age related macular degeneration 2 skos:exactMatch UMLS:C3495438 semapv:UnspecifiedMatching MONDO:0007932 age related macular degeneration 2 skos:exactMatch mesh:C562479 semapv:UnspecifiedMatching MONDO:0007933 vitelliform macular dystrophy 1 skos:exactMatch OMIM:153840 macular dystrophy, vitelliform, 1 semapv:UnspecifiedMatching MONDO:0007933 vitelliform macular dystrophy 1 skos:exactMatch mesh:C537832 semapv:UnspecifiedMatching MONDO:0007934 benign concentric annular macular dystrophy skos:exactMatch OMIM:153870 retinitis pigmentosa 91 semapv:UnspecifiedMatching MONDO:0007934 benign concentric annular macular dystrophy skos:exactMatch Orphanet:251287 Benign concentric annular macular dystrophy semapv:UnspecifiedMatching MONDO:0007934 benign concentric annular macular dystrophy skos:exactMatch SCTID:719520001 semapv:UnspecifiedMatching MONDO:0007934 benign concentric annular macular dystrophy skos:exactMatch UMLS:C5561925 semapv:UnspecifiedMatching MONDO:0007934 benign concentric annular macular dystrophy skos:exactMatch mesh:C537833 semapv:UnspecifiedMatching MONDO:0007935 cystoid macular edema skos:exactMatch DOID:4447 cystoid macular edema semapv:UnspecifiedMatching MONDO:0007935 cystoid macular edema skos:exactMatch NCIT:C34794 Cystoid Macular Edema semapv:UnspecifiedMatching MONDO:0007935 cystoid macular edema skos:exactMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:UnspecifiedMatching MONDO:0007935 cystoid macular edema skos:exactMatch Orphanet:75381 Cystoid macular dystrophy semapv:UnspecifiedMatching MONDO:0007935 cystoid macular edema skos:exactMatch SCTID:312921000 semapv:UnspecifiedMatching MONDO:0007935 cystoid macular edema skos:exactMatch UMLS:C0024440 semapv:UnspecifiedMatching MONDO:0007936 macular dystrophy, fenestrated sheen type skos:exactMatch OMIM:153890 macular dystrophy, fenestrated sheen iia semapv:UnspecifiedMatching MONDO:0007936 macular dystrophy, fenestrated sheen type skos:exactMatch UMLS:C1835173 semapv:UnspecifiedMatching MONDO:0007936 macular dystrophy, fenestrated sheen type skos:exactMatch mesh:C563607 semapv:UnspecifiedMatching MONDO:0007937 renal hypomagnesemia 2 skos:exactMatch DOID:0060885 renal hypomagnesemia 2 semapv:UnspecifiedMatching MONDO:0007937 renal hypomagnesemia 2 skos:exactMatch OMIM:154020 hypomagnesemia 2, renal semapv:UnspecifiedMatching MONDO:0007937 renal hypomagnesemia 2 skos:exactMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:UnspecifiedMatching MONDO:0007937 renal hypomagnesemia 2 skos:exactMatch SCTID:725393000 semapv:UnspecifiedMatching MONDO:0007937 renal hypomagnesemia 2 skos:exactMatch UMLS:C1835171 semapv:UnspecifiedMatching MONDO:0007937 renal hypomagnesemia 2 skos:exactMatch mesh:C537152 semapv:UnspecifiedMatching MONDO:0007938 46,XY sex reversal 4 skos:exactMatch DOID:0111771 46,XY sex reversal 4 semapv:UnspecifiedMatching MONDO:0007938 46,XY sex reversal 4 skos:exactMatch NCIT:C132270 46,XY Sex Reversal 4 semapv:UnspecifiedMatching MONDO:0007938 46,XY sex reversal 4 skos:exactMatch OMIM:154230 46,xy sex reversal 4 semapv:UnspecifiedMatching MONDO:0007938 46,XY sex reversal 4 skos:exactMatch mesh:C567887 semapv:UnspecifiedMatching MONDO:0007939 malignant hyperthermia, susceptibility to, 2 skos:exactMatch OMIM:154275 malignant hyperthermia, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0007939 malignant hyperthermia, susceptibility to, 2 skos:exactMatch mesh:C535695 semapv:UnspecifiedMatching MONDO:0007940 malignant hyperthermia, susceptibility to, 3 skos:exactMatch OMIM:154276 malignant hyperthermia, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0007940 malignant hyperthermia, susceptibility to, 3 skos:exactMatch mesh:C535696 semapv:UnspecifiedMatching MONDO:0007941 malocclusion due to protuberant upper front teeth skos:exactMatch OMIM:154300 malocclusion due to protuberant upper front teeth semapv:UnspecifiedMatching MONDO:0007942 Mammastatin skos:exactMatch OMIM:154370 mammastatin semapv:UnspecifiedMatching MONDO:0007942 Mammastatin skos:exactMatch mesh:C060120 semapv:UnspecifiedMatching MONDO:0007943 Nager acrofacial dysostosis skos:exactMatch DOID:5768 Nager acrofacial dysostosis semapv:UnspecifiedMatching MONDO:0007943 Nager acrofacial dysostosis skos:exactMatch OMIM:154400 acrofacial dysostosis 1, nager iia semapv:UnspecifiedMatching MONDO:0007943 Nager acrofacial dysostosis skos:exactMatch Orphanet:245 Nager syndrome semapv:UnspecifiedMatching MONDO:0007943 Nager acrofacial dysostosis skos:exactMatch SCTID:35520007 semapv:UnspecifiedMatching MONDO:0007943 Nager acrofacial dysostosis skos:exactMatch UMLS:C0265245 semapv:UnspecifiedMatching MONDO:0007943 Nager acrofacial dysostosis skos:exactMatch mesh:C538184 semapv:UnspecifiedMatching MONDO:0007944 Treacher Collins syndrome 1 skos:exactMatch DOID:0080789 Treacher Collins syndrome 1 semapv:UnspecifiedMatching MONDO:0007944 Treacher Collins syndrome 1 skos:exactMatch OMIM:154500 treacher collins syndrome 1 semapv:UnspecifiedMatching MONDO:0007944 Treacher Collins syndrome 1 skos:exactMatch UMLS:C5574871 semapv:UnspecifiedMatching MONDO:0007945 mannose 6-phosphate receptor recognition defect, Lebanese type skos:exactMatch OMIM:154570 mannose 6-phosphate receptor recognition defect, lebanese iia semapv:UnspecifiedMatching MONDO:0007945 mannose 6-phosphate receptor recognition defect, Lebanese type skos:exactMatch UMLS:C1835134 semapv:UnspecifiedMatching MONDO:0007945 mannose 6-phosphate receptor recognition defect, Lebanese type skos:exactMatch mesh:C563601 semapv:UnspecifiedMatching MONDO:0007946 jaw-winking syndrome skos:exactMatch DOID:560 jaw-winking syndrome semapv:UnspecifiedMatching MONDO:0007946 jaw-winking syndrome skos:exactMatch OMIM:154600 marcus gunn phenomenon semapv:UnspecifiedMatching MONDO:0007946 jaw-winking syndrome skos:exactMatch Orphanet:91412 Marcus-Gunn syndrome semapv:UnspecifiedMatching MONDO:0007946 jaw-winking syndrome skos:exactMatch SCTID:5127009 semapv:UnspecifiedMatching MONDO:0007946 jaw-winking syndrome skos:exactMatch UMLS:C0266521 semapv:UnspecifiedMatching MONDO:0007946 jaw-winking syndrome skos:exactMatch mesh:C535908 semapv:UnspecifiedMatching MONDO:0007947 Marfan syndrome skos:exactMatch DOID:14323 Marfan syndrome semapv:UnspecifiedMatching MONDO:0007947 Marfan syndrome skos:exactMatch NCIT:C34807 Marfan Syndrome semapv:UnspecifiedMatching MONDO:0007947 Marfan syndrome skos:exactMatch OMIM:154700 marfan syndrome semapv:UnspecifiedMatching MONDO:0007947 Marfan syndrome skos:exactMatch Orphanet:284963 Marfan syndrome type 1 semapv:UnspecifiedMatching MONDO:0007947 Marfan syndrome skos:exactMatch Orphanet:558 Marfan syndrome semapv:UnspecifiedMatching MONDO:0007947 Marfan syndrome skos:exactMatch SCTID:19346006 semapv:UnspecifiedMatching MONDO:0007947 Marfan syndrome skos:exactMatch UMLS:C0024796 semapv:UnspecifiedMatching MONDO:0007947 Marfan syndrome skos:exactMatch mesh:D008382 semapv:UnspecifiedMatching MONDO:0007948 marfanoid hypermobility syndrome skos:exactMatch OMIM:154750 marfanoid hypermobility syndrome semapv:UnspecifiedMatching MONDO:0007948 marfanoid hypermobility syndrome skos:exactMatch UMLS:C0268365 semapv:UnspecifiedMatching MONDO:0007948 marfanoid hypermobility syndrome skos:exactMatch mesh:C531742 semapv:UnspecifiedMatching MONDO:0007949 Marshall syndrome skos:exactMatch DOID:0111510 Marshall syndrome semapv:UnspecifiedMatching MONDO:0007949 Marshall syndrome skos:exactMatch NCIT:C128115 Marshall Syndrome semapv:UnspecifiedMatching MONDO:0007949 Marshall syndrome skos:exactMatch OMIM:154780 marshall syndrome semapv:UnspecifiedMatching MONDO:0007949 Marshall syndrome skos:exactMatch Orphanet:560 Marshall syndrome semapv:UnspecifiedMatching MONDO:0007949 Marshall syndrome skos:exactMatch SCTID:33410002 semapv:UnspecifiedMatching MONDO:0007949 Marshall syndrome skos:exactMatch UMLS:C0265235 semapv:UnspecifiedMatching MONDO:0007949 Marshall syndrome skos:exactMatch mesh:C536025 semapv:UnspecifiedMatching MONDO:0007950 mastocytosis skos:exactMatch DOID:350 mastocytosis semapv:UnspecifiedMatching MONDO:0007950 mastocytosis skos:exactMatch ICD10WHO:Q82.2 Mastocytosis semapv:UnspecifiedMatching MONDO:0007950 mastocytosis skos:exactMatch NCIT:C84269 Mastocytosis semapv:UnspecifiedMatching MONDO:0007950 mastocytosis skos:exactMatch Orphanet:98292 Mastocytosis semapv:UnspecifiedMatching MONDO:0007950 mastocytosis skos:exactMatch UMLS:C0024899 semapv:UnspecifiedMatching MONDO:0007950 mastocytosis skos:exactMatch mesh:D008415 semapv:UnspecifiedMatching MONDO:0007951 masticatory muscles, hypertrophy of skos:exactMatch OMIM:154850 masticatory muscles, hypertrophy of semapv:UnspecifiedMatching MONDO:0007951 masticatory muscles, hypertrophy of skos:exactMatch SCTID:699649006 semapv:UnspecifiedMatching MONDO:0007951 masticatory muscles, hypertrophy of skos:exactMatch mesh:C563600 semapv:UnspecifiedMatching MONDO:0007952 maxillofacial dysostosis skos:exactMatch OMIM:155000 maxillofacial dysostosis semapv:UnspecifiedMatching MONDO:0007952 maxillofacial dysostosis skos:exactMatch UMLS:C1835088 semapv:UnspecifiedMatching MONDO:0007952 maxillofacial dysostosis skos:exactMatch mesh:C563599 semapv:UnspecifiedMatching MONDO:0007953 Binder syndrome skos:exactMatch DOID:14683 Binder syndrome semapv:UnspecifiedMatching MONDO:0007953 Binder syndrome skos:exactMatch OMIM:155050 maxillonasal dysplasia, binder iia semapv:UnspecifiedMatching MONDO:0007953 Binder syndrome skos:exactMatch Orphanet:1248 Maxillonasal dysplasia semapv:UnspecifiedMatching MONDO:0007953 Binder syndrome skos:exactMatch SCTID:715985008 semapv:UnspecifiedMatching MONDO:0007953 Binder syndrome skos:exactMatch UMLS:C0220692 semapv:UnspecifiedMatching MONDO:0007953 Binder syndrome skos:exactMatch mesh:C536036 semapv:UnspecifiedMatching MONDO:0007955 Meckel diverticulum skos:exactMatch DOID:9487 Meckel's diverticulum semapv:UnspecifiedMatching MONDO:0007955 Meckel diverticulum skos:exactMatch NCIT:C12264 Meckel Diverticulum semapv:UnspecifiedMatching MONDO:0007955 Meckel diverticulum skos:exactMatch OMIM:155140 meckel diverticulum semapv:UnspecifiedMatching MONDO:0007955 Meckel diverticulum skos:exactMatch SCTID:37373007 semapv:UnspecifiedMatching MONDO:0007955 Meckel diverticulum skos:exactMatch mesh:D008467 semapv:UnspecifiedMatching MONDO:0007956 Pai syndrome skos:exactMatch OMIM:155145 cleft, median, of upper 51p with polyps of facial skin and nasal mucosa semapv:UnspecifiedMatching MONDO:0007956 Pai syndrome skos:exactMatch Orphanet:1993 Pai syndrome semapv:UnspecifiedMatching MONDO:0007956 Pai syndrome skos:exactMatch SCTID:722201004 semapv:UnspecifiedMatching MONDO:0007956 Pai syndrome skos:exactMatch UMLS:C1835087 semapv:UnspecifiedMatching MONDO:0007956 Pai syndrome skos:exactMatch mesh:C536135 semapv:UnspecifiedMatching MONDO:0007957 mediosternal depigmentation line skos:exactMatch OMIM:155200 mediosternal depigmentation line semapv:UnspecifiedMatching MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch DOID:0050547 familial medullary thyroid carcinoma semapv:UnspecifiedMatching MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:UnspecifiedMatching MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:UnspecifiedMatching MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch UMLS:C1833921 semapv:UnspecifiedMatching MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch mesh:C536911 semapv:UnspecifiedMatching MONDO:0007959 medulloblastoma skos:exactMatch DOID:0050902 medulloblastoma semapv:UnspecifiedMatching MONDO:0007959 medulloblastoma skos:exactMatch DOID:0060104 cerebellar medulloblastoma semapv:UnspecifiedMatching MONDO:0007959 medulloblastoma skos:exactMatch NCIT:C3222 Medulloblastoma semapv:UnspecifiedMatching MONDO:0007959 medulloblastoma skos:exactMatch OMIM:155255 medulloblastoma semapv:UnspecifiedMatching MONDO:0007959 medulloblastoma skos:exactMatch Orphanet:616 Medulloblastoma semapv:UnspecifiedMatching MONDO:0007959 medulloblastoma skos:exactMatch SCTID:443333004 semapv:UnspecifiedMatching MONDO:0007959 medulloblastoma skos:exactMatch UMLS:C0025149 semapv:UnspecifiedMatching MONDO:0007959 medulloblastoma skos:exactMatch mesh:D008527 semapv:UnspecifiedMatching MONDO:0007961 megalencephaly, autosomal dominant skos:exactMatch OMIM:155350 megalencephaly, autosomal dominant semapv:UnspecifiedMatching MONDO:0007961 megalencephaly, autosomal dominant skos:exactMatch UMLS:C3805727 semapv:UnspecifiedMatching MONDO:0007962 megalodactyly skos:exactMatch NCIT:C48900 Macrodactyly semapv:UnspecifiedMatching MONDO:0007962 megalodactyly skos:exactMatch OMIM:155500 macrodactyly semapv:UnspecifiedMatching MONDO:0007962 megalodactyly skos:exactMatch SCTID:48449000 semapv:UnspecifiedMatching MONDO:0007962 megalodactyly skos:exactMatch mesh:C562546 semapv:UnspecifiedMatching MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:exactMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:exactMatch SCTID:254819008 semapv:UnspecifiedMatching MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch DOID:10041 dysplastic nevus syndrome semapv:UnspecifiedMatching MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch NCIT:C7584 Dysplastic Nevus Syndrome semapv:UnspecifiedMatching MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch OMIM:155601 melanoma, cutaneous malignant, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch mesh:D004416 semapv:UnspecifiedMatching MONDO:0007965 melanoma, malignant familial intraocular skos:exactMatch OMIM:155700 melanoma, malignant familial intraocular semapv:UnspecifiedMatching MONDO:0007965 melanoma, malignant familial intraocular skos:exactMatch UMLS:C1835043 semapv:UnspecifiedMatching MONDO:0007965 melanoma, malignant familial intraocular skos:exactMatch mesh:C563596 semapv:UnspecifiedMatching MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch DOID:0111511 melanoma and neural system tumor syndrome semapv:UnspecifiedMatching MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch OMIM:155755 melanoma-astrocytoma syndrome semapv:UnspecifiedMatching MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:UnspecifiedMatching MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch SCTID:717968005 semapv:UnspecifiedMatching MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch UMLS:C1835042 semapv:UnspecifiedMatching MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch mesh:C536149 semapv:UnspecifiedMatching MONDO:0007968 melanoma tumor antigen Gp90 skos:exactMatch OMIM:155770 melanoma tumor antigen gp90 semapv:UnspecifiedMatching MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch DOID:1761 Melkersson-Rosenthal syndrome semapv:UnspecifiedMatching MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch NCIT:C84886 Melkersson-Rosenthal Syndrome semapv:UnspecifiedMatching MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch OMIM:155900 melkersson-rosenthal syndrome semapv:UnspecifiedMatching MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:UnspecifiedMatching MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch UMLS:C0025235 semapv:UnspecifiedMatching MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch mesh:D008556 semapv:UnspecifiedMatching MONDO:0007970 melorheostosis skos:exactMatch DOID:4253 melorheostosis semapv:UnspecifiedMatching MONDO:0007970 melorheostosis skos:exactMatch NCIT:C84887 Melorheostosis semapv:UnspecifiedMatching MONDO:0007970 melorheostosis skos:exactMatch OMIM:155950 melorheostosis, isolated semapv:UnspecifiedMatching MONDO:0007970 melorheostosis skos:exactMatch Orphanet:2485 Melorheostosis semapv:UnspecifiedMatching MONDO:0007970 melorheostosis skos:exactMatch SCTID:44697002 semapv:UnspecifiedMatching MONDO:0007970 melorheostosis skos:exactMatch UMLS:C3149631 semapv:UnspecifiedMatching MONDO:0007970 melorheostosis skos:exactMatch mesh:D008557 semapv:UnspecifiedMatching MONDO:0007971 delayed membranous cranial ossification skos:exactMatch OMIM:155980 membranous cranial ossification, delayed semapv:UnspecifiedMatching MONDO:0007971 delayed membranous cranial ossification skos:exactMatch Orphanet:3034 Delayed membranous cranial ossification semapv:UnspecifiedMatching MONDO:0007971 delayed membranous cranial ossification skos:exactMatch SCTID:715524004 semapv:UnspecifiedMatching MONDO:0007971 delayed membranous cranial ossification skos:exactMatch UMLS:C1835030 semapv:UnspecifiedMatching MONDO:0007971 delayed membranous cranial ossification skos:exactMatch mesh:C563592 semapv:UnspecifiedMatching MONDO:0007972 Meniere disease skos:exactMatch DOID:9849 Meniere's disease semapv:UnspecifiedMatching MONDO:0007972 Meniere disease skos:exactMatch NCIT:C185243 Meniere Disease semapv:UnspecifiedMatching MONDO:0007972 Meniere disease skos:exactMatch OMIM:156000 meniere disease semapv:UnspecifiedMatching MONDO:0007972 Meniere disease skos:exactMatch SCTID:13445001 semapv:UnspecifiedMatching MONDO:0007972 Meniere disease skos:exactMatch UMLS:C0025281 semapv:UnspecifiedMatching MONDO:0007972 Meniere disease skos:exactMatch mesh:D008575 semapv:UnspecifiedMatching MONDO:0007973 mental and growth retardation with amblyopia skos:exactMatch OMIM:156190 mental and growth retardation with amblyopia semapv:UnspecifiedMatching MONDO:0007973 mental and growth retardation with amblyopia skos:exactMatch UMLS:C1835028 semapv:UnspecifiedMatching MONDO:0007973 mental and growth retardation with amblyopia skos:exactMatch mesh:C563591 semapv:UnspecifiedMatching MONDO:0007974 intellectual disability, autosomal dominant 1 skos:exactMatch DOID:0070031 autosomal dominant intellectual developmental disorder 1 semapv:UnspecifiedMatching MONDO:0007974 intellectual disability, autosomal dominant 1 skos:exactMatch NCIT:C141424 Mental Retardation, Autosomal Dominant 1 semapv:UnspecifiedMatching MONDO:0007974 intellectual disability, autosomal dominant 1 skos:exactMatch OMIM:156200 intellectual developmental disorder, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0007974 intellectual disability, autosomal dominant 1 skos:exactMatch mesh:C566947 semapv:UnspecifiedMatching MONDO:0007975 meralgia paraesthetica, familial skos:exactMatch OMIM:156220 meralgia paraesthetica, familial semapv:UnspecifiedMatching MONDO:0007975 meralgia paraesthetica, familial skos:exactMatch UMLS:C1835026 semapv:UnspecifiedMatching MONDO:0007975 meralgia paraesthetica, familial skos:exactMatch mesh:C563590 semapv:UnspecifiedMatching MONDO:0007976 mesomelic dwarfism of hypoplastic tibia and radius type skos:exactMatch OMIM:156230 mesomelic dwarfism of hypoplastic tibia and radius iia semapv:UnspecifiedMatching MONDO:0007976 mesomelic dwarfism of hypoplastic tibia and radius type skos:exactMatch UMLS:C1835010 semapv:UnspecifiedMatching MONDO:0007976 mesomelic dwarfism of hypoplastic tibia and radius type skos:exactMatch mesh:C563589 semapv:UnspecifiedMatching MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:exactMatch OMIM:156232 mesomelic dysplasia, kantaputra iia semapv:UnspecifiedMatching MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:exactMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:UnspecifiedMatching MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:exactMatch SCTID:719397009 semapv:UnspecifiedMatching MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:exactMatch mesh:C535547 semapv:UnspecifiedMatching MONDO:0007979 metachondromatosis skos:exactMatch DOID:0111512 metachondromatosis semapv:UnspecifiedMatching MONDO:0007979 metachondromatosis skos:exactMatch OMIM:156250 metachondromatosis semapv:UnspecifiedMatching MONDO:0007979 metachondromatosis skos:exactMatch Orphanet:2499 Metachondromatosis semapv:UnspecifiedMatching MONDO:0007979 metachondromatosis skos:exactMatch SCTID:205481009 semapv:UnspecifiedMatching MONDO:0007979 metachondromatosis skos:exactMatch UMLS:C0410530 semapv:UnspecifiedMatching MONDO:0007979 metachondromatosis skos:exactMatch mesh:C562938 semapv:UnspecifiedMatching MONDO:0007980 metachromasia of fibroblasts skos:exactMatch OMIM:156300 metachromasia of fibroblasts semapv:UnspecifiedMatching MONDO:0007981 obsolete metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A skos:exactMatch OMIM:156310 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a semapv:UnspecifiedMatching MONDO:0007981 obsolete metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A skos:exactMatch UMLS:C1835007 semapv:UnspecifiedMatching MONDO:0007981 obsolete metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A skos:exactMatch mesh:C563587 semapv:UnspecifiedMatching MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch DOID:0080020 Jansen's metaphyseal chondrodysplasia semapv:UnspecifiedMatching MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch NCIT:C131868 Metaphyseal Chondrodysplasia, Jansen Type semapv:UnspecifiedMatching MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch OMIM:156400 metaphyseal chondrodysplasia, jansen iia semapv:UnspecifiedMatching MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:UnspecifiedMatching MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch SCTID:24629003 semapv:UnspecifiedMatching MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch UMLS:C0265295 semapv:UnspecifiedMatching MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch mesh:C537564 semapv:UnspecifiedMatching MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:exactMatch DOID:0080021 Schmid metaphyseal chondrodysplasia semapv:UnspecifiedMatching MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:exactMatch OMIM:156500 metaphyseal chondrodysplasia, schmid iia semapv:UnspecifiedMatching MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:exactMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:UnspecifiedMatching MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:exactMatch SCTID:29248006 semapv:UnspecifiedMatching MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:exactMatch mesh:C537352 semapv:UnspecifiedMatching MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:exactMatch DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:exactMatch OMIM:156510 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly semapv:UnspecifiedMatching MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:exactMatch Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome semapv:UnspecifiedMatching MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:exactMatch UMLS:C3549874 semapv:UnspecifiedMatching MONDO:0007985 metatarsus varus, type 1 skos:exactMatch OMIM:156520 metatarsus varus, iia 1 semapv:UnspecifiedMatching MONDO:0007985 metatarsus varus, type 1 skos:exactMatch UMLS:C1834968 semapv:UnspecifiedMatching MONDO:0007985 metatarsus varus, type 1 skos:exactMatch mesh:C563585 semapv:UnspecifiedMatching MONDO:0007986 metatropic dysplasia skos:exactMatch DOID:0111514 metatropic dysplasia semapv:UnspecifiedMatching MONDO:0007986 metatropic dysplasia skos:exactMatch NCIT:C175209 Metatropic Dysplasia semapv:UnspecifiedMatching MONDO:0007986 metatropic dysplasia skos:exactMatch OMIM:156530 metatropic dysplasia semapv:UnspecifiedMatching MONDO:0007986 metatropic dysplasia skos:exactMatch Orphanet:2635 Metatropic dysplasia semapv:UnspecifiedMatching MONDO:0007986 metatropic dysplasia skos:exactMatch SCTID:22764001 semapv:UnspecifiedMatching MONDO:0007986 metatropic dysplasia skos:exactMatch mesh:C537356 semapv:UnspecifiedMatching MONDO:0007987 Kniest dysplasia skos:exactMatch DOID:0080045 Kniest dysplasia semapv:UnspecifiedMatching MONDO:0007987 Kniest dysplasia skos:exactMatch NCIT:C125594 Kniest Dysplasia semapv:UnspecifiedMatching MONDO:0007987 Kniest dysplasia skos:exactMatch OMIM:156550 kniest dysplasia semapv:UnspecifiedMatching MONDO:0007987 Kniest dysplasia skos:exactMatch Orphanet:485 Kniest dysplasia semapv:UnspecifiedMatching MONDO:0007987 Kniest dysplasia skos:exactMatch SCTID:53974002 semapv:UnspecifiedMatching MONDO:0007987 Kniest dysplasia skos:exactMatch UMLS:C0265279 semapv:UnspecifiedMatching MONDO:0007987 Kniest dysplasia skos:exactMatch mesh:C537207 semapv:UnspecifiedMatching MONDO:0007988 autosomal dominant primary microcephaly skos:exactMatch DOID:14725 autosomal dominant microcephaly semapv:UnspecifiedMatching MONDO:0007988 autosomal dominant primary microcephaly skos:exactMatch OMIM:156580 microcephaly, autosomal dominant semapv:UnspecifiedMatching MONDO:0007988 autosomal dominant primary microcephaly skos:exactMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:UnspecifiedMatching MONDO:0007988 autosomal dominant primary microcephaly skos:exactMatch UMLS:C0220693 semapv:UnspecifiedMatching MONDO:0007988 autosomal dominant primary microcephaly skos:exactMatch mesh:C537323 semapv:UnspecifiedMatching MONDO:0007989 congenital microcoria skos:exactMatch OMIM:156600 microcoria, congenital semapv:UnspecifiedMatching MONDO:0007989 congenital microcoria skos:exactMatch Orphanet:566 Congenital microcoria semapv:UnspecifiedMatching MONDO:0007989 congenital microcoria skos:exactMatch SCTID:400962005 semapv:UnspecifiedMatching MONDO:0007989 congenital microcoria skos:exactMatch mesh:C537550 semapv:UnspecifiedMatching MONDO:0007990 multiple benign circumferential skin creases on limbs skos:exactMatch DOID:0112241 multiple benign circumferential skin creases on limbs semapv:UnspecifiedMatching MONDO:0007990 multiple benign circumferential skin creases on limbs skos:exactMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:UnspecifiedMatching MONDO:0007990 multiple benign circumferential skin creases on limbs skos:exactMatch UMLS:C0473586 semapv:UnspecifiedMatching MONDO:0007990 multiple benign circumferential skin creases on limbs skos:exactMatch mesh:C537575 semapv:UnspecifiedMatching MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:exactMatch OMIM:156620 microcephaly-deafness syndrome semapv:UnspecifiedMatching MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:exactMatch Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:exactMatch SCTID:716112005 semapv:UnspecifiedMatching MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:exactMatch UMLS:C0796062 semapv:UnspecifiedMatching MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:exactMatch mesh:C537326 semapv:UnspecifiedMatching MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:exactMatch OMIM:156700 microcornea, glaucoma, and absent frontal sinuses semapv:UnspecifiedMatching MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:exactMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:UnspecifiedMatching MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:exactMatch UMLS:C1834935 semapv:UnspecifiedMatching MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:exactMatch mesh:C537552 semapv:UnspecifiedMatching MONDO:0007993 microgastria-limb reduction defect syndrome skos:exactMatch OMIM:156810 microgastria-limb reduction defects association semapv:UnspecifiedMatching MONDO:0007993 microgastria-limb reduction defect syndrome skos:exactMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:UnspecifiedMatching MONDO:0007993 microgastria-limb reduction defect syndrome skos:exactMatch UMLS:C1834929 semapv:UnspecifiedMatching MONDO:0007993 microgastria-limb reduction defect syndrome skos:exactMatch mesh:C537554 semapv:UnspecifiedMatching MONDO:0007994 micromelic bone dysplasia with cloverleaf skull skos:exactMatch OMIM:156830 micromelic bone dysplasia with cloverleaf skull semapv:UnspecifiedMatching MONDO:0007994 micromelic bone dysplasia with cloverleaf skull skos:exactMatch mesh:C536429 semapv:UnspecifiedMatching MONDO:0007995 microphthalmia, isolated, with cataract 1 skos:exactMatch OMIM:156850 microphthalmia, isolated, with cataract 1 semapv:UnspecifiedMatching MONDO:0007995 microphthalmia, isolated, with cataract 1 skos:exactMatch UMLS:C1834919 semapv:UnspecifiedMatching MONDO:0007995 microphthalmia, isolated, with cataract 1 skos:exactMatch mesh:C563582 semapv:UnspecifiedMatching MONDO:0007996 microphthalmia, isolated, with corectopia skos:exactMatch OMIM:156900 microphthalmia, isolated, with corectopia semapv:UnspecifiedMatching MONDO:0007996 microphthalmia, isolated, with corectopia skos:exactMatch UMLS:C1834918 semapv:UnspecifiedMatching MONDO:0007996 microphthalmia, isolated, with corectopia skos:exactMatch mesh:C563581 semapv:UnspecifiedMatching MONDO:0007997 microspherophakia with hernia skos:exactMatch OMIM:157150 microspherophakia with hernia semapv:UnspecifiedMatching MONDO:0007997 microspherophakia with hernia skos:exactMatch UMLS:C1834881 semapv:UnspecifiedMatching MONDO:0007997 microspherophakia with hernia skos:exactMatch mesh:C537468 semapv:UnspecifiedMatching MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:exactMatch OMIM:157151 microspherophakia-metaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:exactMatch Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:exactMatch UMLS:C1834880 semapv:UnspecifiedMatching MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:exactMatch mesh:C536540 semapv:UnspecifiedMatching MONDO:0007999 holoprosencephaly 2 skos:exactMatch DOID:0110872 holoprosencephaly 2 semapv:UnspecifiedMatching MONDO:0007999 holoprosencephaly 2 skos:exactMatch NCIT:C74995 Holoprosencephaly Type 2 semapv:UnspecifiedMatching MONDO:0007999 holoprosencephaly 2 skos:exactMatch OMIM:157170 holoprosencephaly 2 semapv:UnspecifiedMatching MONDO:0007999 holoprosencephaly 2 skos:exactMatch UMLS:C1834877 semapv:UnspecifiedMatching MONDO:0007999 holoprosencephaly 2 skos:exactMatch mesh:C563579 semapv:UnspecifiedMatching MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:exactMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:exactMatch SCTID:37796009 semapv:UnspecifiedMatching MONDO:0008001 milia, multiple eruptive skos:exactMatch OMIM:157400 milia, multiple eruptive semapv:UnspecifiedMatching MONDO:0008001 milia, multiple eruptive skos:exactMatch SCTID:238749001 semapv:UnspecifiedMatching MONDO:0008001 milia, multiple eruptive skos:exactMatch UMLS:C0343079 semapv:UnspecifiedMatching MONDO:0008001 milia, multiple eruptive skos:exactMatch mesh:C562823 semapv:UnspecifiedMatching MONDO:0008002 mirror movements 1 skos:exactMatch OMIM:157600 mirror movements 1 semapv:UnspecifiedMatching MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:exactMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:UnspecifiedMatching MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:exactMatch UMLS:C5231255 semapv:UnspecifiedMatching MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:exactMatch mesh:C563575 semapv:UnspecifiedMatching MONDO:0008004 familial mitral valve prolapse skos:exactMatch OMIMPS:157700 semapv:UnspecifiedMatching MONDO:0008004 familial mitral valve prolapse skos:exactMatch Orphanet:741 Familial mitral valve prolapse semapv:UnspecifiedMatching MONDO:0008004 familial mitral valve prolapse skos:exactMatch SCTID:233858000 semapv:UnspecifiedMatching MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch NCIT:C188216 Cardiospondylocarpofacial Syndrome semapv:UnspecifiedMatching MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch OMIM:157800 cardiospondylocarpofacial syndrome semapv:UnspecifiedMatching MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch Orphanet:3238 Cardiospondylocarpofacial syndrome semapv:UnspecifiedMatching MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch SCTID:720612000 semapv:UnspecifiedMatching MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch UMLS:C2931461 semapv:UnspecifiedMatching MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch mesh:C563572 semapv:UnspecifiedMatching MONDO:0008006 Mobius syndrome skos:exactMatch DOID:13501 Moebius syndrome semapv:UnspecifiedMatching MONDO:0008006 Mobius syndrome skos:exactMatch NCIT:C84893 Mobius Syndrome semapv:UnspecifiedMatching MONDO:0008006 Mobius syndrome skos:exactMatch OMIM:157900 moebius syndrome semapv:UnspecifiedMatching MONDO:0008006 Mobius syndrome skos:exactMatch Orphanet:570 Moebius syndrome semapv:UnspecifiedMatching MONDO:0008006 Mobius syndrome skos:exactMatch SCTID:89444000 semapv:UnspecifiedMatching MONDO:0008006 Mobius syndrome skos:exactMatch UMLS:C0221060 semapv:UnspecifiedMatching MONDO:0008006 Mobius syndrome skos:exactMatch mesh:D020331 semapv:UnspecifiedMatching MONDO:0008007 tooth ankylosis skos:exactMatch DOID:12661 tooth ankylosis semapv:UnspecifiedMatching MONDO:0008007 tooth ankylosis skos:exactMatch OMIM:157950 permanent molars, secondary retention of semapv:UnspecifiedMatching MONDO:0008007 tooth ankylosis skos:exactMatch Orphanet:1077 Dental ankylosis semapv:UnspecifiedMatching MONDO:0008007 tooth ankylosis skos:exactMatch SCTID:14901003 semapv:UnspecifiedMatching MONDO:0008007 tooth ankylosis skos:exactMatch UMLS:C0155930 semapv:UnspecifiedMatching MONDO:0008007 tooth ankylosis skos:exactMatch mesh:D020254 semapv:UnspecifiedMatching MONDO:0008008 MOMO syndrome skos:exactMatch OMIM:157980 momo syndrome semapv:UnspecifiedMatching MONDO:0008008 MOMO syndrome skos:exactMatch Orphanet:2563 MOMO syndrome semapv:UnspecifiedMatching MONDO:0008008 MOMO syndrome skos:exactMatch SCTID:724137002 semapv:UnspecifiedMatching MONDO:0008008 MOMO syndrome skos:exactMatch UMLS:C1834759 semapv:UnspecifiedMatching MONDO:0008008 MOMO syndrome skos:exactMatch mesh:C535812 semapv:UnspecifiedMatching MONDO:0008009 monilethrix skos:exactMatch DOID:0050472 monilethrix semapv:UnspecifiedMatching MONDO:0008009 monilethrix skos:exactMatch NCIT:C84894 Monilethrix semapv:UnspecifiedMatching MONDO:0008009 monilethrix skos:exactMatch OMIM:158000 monilethrix semapv:UnspecifiedMatching MONDO:0008009 monilethrix skos:exactMatch Orphanet:573 Monilethrix semapv:UnspecifiedMatching MONDO:0008009 monilethrix skos:exactMatch SCTID:69488000 semapv:UnspecifiedMatching MONDO:0008009 monilethrix skos:exactMatch UMLS:C0546966 semapv:UnspecifiedMatching MONDO:0008009 monilethrix skos:exactMatch mesh:D056734 semapv:UnspecifiedMatching MONDO:0008010 antigen defined by monoclonal antibody Aj9 skos:exactMatch OMIM:158030 antigen defined by monoclonal antibody aj9 semapv:UnspecifiedMatching MONDO:0008011 antigen defined by monoclonal antibody T87 skos:exactMatch OMIM:158040 antigen defined by monoclonal antibody t87 semapv:UnspecifiedMatching MONDO:0008012 Monophalangy of great toe skos:exactMatch OMIM:158100 monophalangy of great toe semapv:UnspecifiedMatching MONDO:0008012 Monophalangy of great toe skos:exactMatch UMLS:C1834753 semapv:UnspecifiedMatching MONDO:0008012 Monophalangy of great toe skos:exactMatch mesh:C563570 semapv:UnspecifiedMatching MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch DOID:0060732 chromosome 9p deletion syndrome semapv:UnspecifiedMatching MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch OMIM:158170 chromosome 9p deletion syndrome semapv:UnspecifiedMatching MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261112 Monosomy 9p semapv:UnspecifiedMatching MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch SCTID:62599000 semapv:UnspecifiedMatching MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch mesh:C538024 semapv:UnspecifiedMatching MONDO:0008014 nondisjunction skos:exactMatch OMIM:158250 nondisjunction semapv:UnspecifiedMatching MONDO:0008014 nondisjunction skos:exactMatch UMLS:C1834741 semapv:UnspecifiedMatching MONDO:0008015 motion sickness skos:exactMatch DOID:2951 motion sickness semapv:UnspecifiedMatching MONDO:0008015 motion sickness skos:exactMatch ICD10CM:T75.3 Motion sickness semapv:UnspecifiedMatching MONDO:0008015 motion sickness skos:exactMatch OMIM:158280 motion sickness semapv:UnspecifiedMatching MONDO:0008015 motion sickness skos:exactMatch UMLS:C0026603 semapv:UnspecifiedMatching MONDO:0008015 motion sickness skos:exactMatch mesh:D009041 semapv:UnspecifiedMatching MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch DOID:0111603 distal arthrogryposis type 7 semapv:UnspecifiedMatching MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch OMIM:158300 arthrogryposis, distal, iia 7 semapv:UnspecifiedMatching MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch Orphanet:3377 Trismus-pseudocamptodactyly syndrome semapv:UnspecifiedMatching MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch SCTID:8757006 semapv:UnspecifiedMatching MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch UMLS:C0265226 semapv:UnspecifiedMatching MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch mesh:C535857 semapv:UnspecifiedMatching MONDO:0008017 hereditary mucoepithelial dysplasia skos:exactMatch OMIM:158310 mucoepithelial dysplasia, hereditary semapv:UnspecifiedMatching MONDO:0008017 hereditary mucoepithelial dysplasia skos:exactMatch Orphanet:1839 Hereditary mucoepithelial dysplasia semapv:UnspecifiedMatching MONDO:0008017 hereditary mucoepithelial dysplasia skos:exactMatch SCTID:403442005 semapv:UnspecifiedMatching MONDO:0008017 hereditary mucoepithelial dysplasia skos:exactMatch mesh:C536476 semapv:UnspecifiedMatching MONDO:0008018 Muir-Torre syndrome skos:exactMatch DOID:0050465 Muir-Torre syndrome semapv:UnspecifiedMatching MONDO:0008018 Muir-Torre syndrome skos:exactMatch NCIT:C84905 Muir-Torre Syndrome semapv:UnspecifiedMatching MONDO:0008018 Muir-Torre syndrome skos:exactMatch OMIM:158320 muir-torre syndrome semapv:UnspecifiedMatching MONDO:0008018 Muir-Torre syndrome skos:exactMatch Orphanet:587 Muir-Torre syndrome semapv:UnspecifiedMatching MONDO:0008018 Muir-Torre syndrome skos:exactMatch SCTID:403824007 semapv:UnspecifiedMatching MONDO:0008018 Muir-Torre syndrome skos:exactMatch UMLS:C1321489 semapv:UnspecifiedMatching MONDO:0008018 Muir-Torre syndrome skos:exactMatch mesh:D055653 semapv:UnspecifiedMatching MONDO:0008019 mullerian aplasia and hyperandrogenism skos:exactMatch DOID:0111526 Mullerian aplasia and hyperandrogenism semapv:UnspecifiedMatching MONDO:0008019 mullerian aplasia and hyperandrogenism skos:exactMatch NCIT:C120376 Mullerian Aplasia and Hyperandrogenism semapv:UnspecifiedMatching MONDO:0008019 mullerian aplasia and hyperandrogenism skos:exactMatch OMIM:158330 mullerian aplasia and hyperandrogenism semapv:UnspecifiedMatching MONDO:0008019 mullerian aplasia and hyperandrogenism skos:exactMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:UnspecifiedMatching MONDO:0008019 mullerian aplasia and hyperandrogenism skos:exactMatch UMLS:C2675014 semapv:UnspecifiedMatching MONDO:0008019 mullerian aplasia and hyperandrogenism skos:exactMatch mesh:C567186 semapv:UnspecifiedMatching MONDO:0008020 multiple exostoses with spastic tetraparesis skos:exactMatch OMIM:158345 multiple exostoses with spastic tetraparesis semapv:UnspecifiedMatching MONDO:0008020 multiple exostoses with spastic tetraparesis skos:exactMatch UMLS:C1834724 semapv:UnspecifiedMatching MONDO:0008020 multiple exostoses with spastic tetraparesis skos:exactMatch mesh:C563566 semapv:UnspecifiedMatching MONDO:0008021 Cowden syndrome 1 skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:UnspecifiedMatching MONDO:0008021 Cowden syndrome 1 skos:exactMatch UMLS:CN072330 semapv:UnspecifiedMatching MONDO:0008022 muscle cramps, familial skos:exactMatch OMIM:158400 muscle cramps, familial semapv:UnspecifiedMatching MONDO:0008022 muscle cramps, familial skos:exactMatch UMLS:C1834708 semapv:UnspecifiedMatching MONDO:0008022 muscle cramps, familial skos:exactMatch mesh:C563563 semapv:UnspecifiedMatching MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:exactMatch OMIM:158500 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus semapv:UnspecifiedMatching MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:exactMatch Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome semapv:UnspecifiedMatching MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:exactMatch SCTID:237611007 semapv:UnspecifiedMatching MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:exactMatch DOID:0111201 distal hereditary motor neuronopathy type 7A semapv:UnspecifiedMatching MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:exactMatch OMIM:158580 neuronopathy, distal hereditary motor, autosomal dominant 7 semapv:UnspecifiedMatching MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:exactMatch UMLS:C1834703 semapv:UnspecifiedMatching MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:exactMatch mesh:C563562 semapv:UnspecifiedMatching MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:exactMatch DOID:0111208 distal hereditary motor neuronopathy type 2A semapv:UnspecifiedMatching MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:exactMatch OMIM:158590 neuronopathy, distal hereditary motor, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:exactMatch UMLS:C1834692 semapv:UnspecifiedMatching MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:exactMatch mesh:C563561 semapv:UnspecifiedMatching MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:exactMatch DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 semapv:UnspecifiedMatching MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:exactMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:UnspecifiedMatching MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:exactMatch Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:exactMatch UMLS:C1834690 semapv:UnspecifiedMatching MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:exactMatch mesh:C563560 semapv:UnspecifiedMatching MONDO:0008027 muscular atrophy, malignant neurogenic skos:exactMatch OMIM:158650 muscular atrophy, malignant neurogenic semapv:UnspecifiedMatching MONDO:0008027 muscular atrophy, malignant neurogenic skos:exactMatch UMLS:C1834689 semapv:UnspecifiedMatching MONDO:0008027 muscular atrophy, malignant neurogenic skos:exactMatch mesh:C563559 semapv:UnspecifiedMatching MONDO:0008028 muscular dystrophy, Barnes type skos:exactMatch OMIM:158800 muscular dystrophy, barnes iia semapv:UnspecifiedMatching MONDO:0008028 muscular dystrophy, Barnes type skos:exactMatch UMLS:C1834688 semapv:UnspecifiedMatching MONDO:0008028 muscular dystrophy, Barnes type skos:exactMatch mesh:C563558 semapv:UnspecifiedMatching MONDO:0008029 Bethlem myopathy skos:exactMatch DOID:0050663 Bethlem myopathy semapv:UnspecifiedMatching MONDO:0008029 Bethlem myopathy skos:exactMatch NCIT:C126688 Bethlem Myopathy 1 semapv:UnspecifiedMatching MONDO:0008029 Bethlem myopathy skos:exactMatch OMIMPS:158810 semapv:UnspecifiedMatching MONDO:0008029 Bethlem myopathy skos:exactMatch Orphanet:610 Bethlem muscular dystrophy semapv:UnspecifiedMatching MONDO:0008029 Bethlem myopathy skos:exactMatch SCTID:718572004 semapv:UnspecifiedMatching MONDO:0008029 Bethlem myopathy skos:exactMatch UMLS:C1834674 semapv:UnspecifiedMatching MONDO:0008029 Bethlem myopathy skos:exactMatch mesh:C535436 semapv:UnspecifiedMatching MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:exactMatch DOID:0111192 facioscapulohumeral muscular dystrophy 1 semapv:UnspecifiedMatching MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:exactMatch NCIT:C172704 Facioscapulohumeral Muscular Dystrophy 1 semapv:UnspecifiedMatching MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:exactMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:UnspecifiedMatching MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:exactMatch mesh:C536391 semapv:UnspecifiedMatching MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:exactMatch DOID:0111193 facioscapulohumeral muscular dystrophy 2 semapv:UnspecifiedMatching MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:exactMatch NCIT:C172705 Facioscapulohumeral Muscular Dystrophy 2 semapv:UnspecifiedMatching MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:exactMatch OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic semapv:UnspecifiedMatching MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:exactMatch UMLS:C1834671 semapv:UnspecifiedMatching MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:exactMatch mesh:C563557 semapv:UnspecifiedMatching MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries skos:exactMatch OMIM:159050 muscular dystrophy, pseudohypertrophic, with internalized capillaries semapv:UnspecifiedMatching MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries skos:exactMatch UMLS:C1834652 semapv:UnspecifiedMatching MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries skos:exactMatch mesh:C563554 semapv:UnspecifiedMatching MONDO:0008035 muscular hypoplasia, congenital universal, of Krabbe skos:exactMatch OMIM:159100 muscular hypoplasia, congenital universal, of krabbe semapv:UnspecifiedMatching MONDO:0008035 muscular hypoplasia, congenital universal, of Krabbe skos:exactMatch UMLS:C1834651 semapv:UnspecifiedMatching MONDO:0008035 muscular hypoplasia, congenital universal, of Krabbe skos:exactMatch mesh:C563553 semapv:UnspecifiedMatching MONDO:0008036 myasthenia, limb-girdle, autoimmune skos:exactMatch OMIM:159400 myasthenia, limb-girdle, autoimmune semapv:UnspecifiedMatching MONDO:0008036 myasthenia, limb-girdle, autoimmune skos:exactMatch UMLS:C1834635 semapv:UnspecifiedMatching MONDO:0008036 myasthenia, limb-girdle, autoimmune skos:exactMatch mesh:C563552 semapv:UnspecifiedMatching MONDO:0008037 myelinated optic nerve fibers skos:exactMatch OMIM:159500 myelinated optic nerve fibers semapv:UnspecifiedMatching MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch NCIT:C176909 Ataxia-Pancytopenia Syndrome semapv:UnspecifiedMatching MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch OMIM:159550 ataxia-pancytopenia syndrome semapv:UnspecifiedMatching MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:UnspecifiedMatching MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch SCTID:768556005 semapv:UnspecifiedMatching MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch UMLS:C1327919 semapv:UnspecifiedMatching MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch mesh:C563233 semapv:UnspecifiedMatching MONDO:0008039 tropical spastic paraparesis skos:exactMatch DOID:321 tropical spastic paraparesis semapv:UnspecifiedMatching MONDO:0008039 tropical spastic paraparesis skos:exactMatch OMIM:159580 myelopathy, htlv-1-associated semapv:UnspecifiedMatching MONDO:0008039 tropical spastic paraparesis skos:exactMatch Orphanet:289326 Tropical spastic paraparesis semapv:UnspecifiedMatching MONDO:0008039 tropical spastic paraparesis skos:exactMatch SCTID:714279000 semapv:UnspecifiedMatching MONDO:0008039 tropical spastic paraparesis skos:exactMatch UMLS:C0030481 semapv:UnspecifiedMatching MONDO:0008039 tropical spastic paraparesis skos:exactMatch mesh:D015493 semapv:UnspecifiedMatching MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch DOID:0060888 transient myeloproliferative syndrome semapv:UnspecifiedMatching MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch NCIT:C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome semapv:UnspecifiedMatching MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch OMIM:159595 myeloproliferative syndrome, transient semapv:UnspecifiedMatching MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:UnspecifiedMatching MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch SCTID:721307000 semapv:UnspecifiedMatching MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch UMLS:C1834582 semapv:UnspecifiedMatching MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch mesh:C563551 semapv:UnspecifiedMatching MONDO:0008041 myoclonic epilepsy, Hartung type skos:exactMatch OMIM:159600 myoclonic epilepsy, hartung iia semapv:UnspecifiedMatching MONDO:0008041 myoclonic epilepsy, Hartung type skos:exactMatch UMLS:C1834581 semapv:UnspecifiedMatching MONDO:0008041 myoclonic epilepsy, Hartung type skos:exactMatch mesh:C563550 semapv:UnspecifiedMatching MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:exactMatch OMIM:159800 myoclonus, cerebellar ataxia, and deafness semapv:UnspecifiedMatching MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:exactMatch Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome semapv:UnspecifiedMatching MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:exactMatch UMLS:C1834579 semapv:UnspecifiedMatching MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:exactMatch mesh:C563549 semapv:UnspecifiedMatching MONDO:0008044 myoclonic dystonia 11 skos:exactMatch DOID:0090034 myoclonic dystonia 11 semapv:UnspecifiedMatching MONDO:0008044 myoclonic dystonia 11 skos:exactMatch OMIM:159900 dystonia 11, myoclonic semapv:UnspecifiedMatching MONDO:0008044 myoclonic dystonia 11 skos:exactMatch UMLS:C1834570 semapv:UnspecifiedMatching MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:UnspecifiedMatching MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch SCTID:703524005 semapv:UnspecifiedMatching MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch UMLS:C1834569 semapv:UnspecifiedMatching MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch mesh:C537563 semapv:UnspecifiedMatching MONDO:0008046 autosomal dominant myoglobinuria skos:exactMatch OMIM:160010 myoglobinuria, autosomal dominant semapv:UnspecifiedMatching MONDO:0008046 autosomal dominant myoglobinuria skos:exactMatch Orphanet:99846 Autosomal dominant myoglobinuria semapv:UnspecifiedMatching MONDO:0008046 autosomal dominant myoglobinuria skos:exactMatch SCTID:725903003 semapv:UnspecifiedMatching MONDO:0008046 autosomal dominant myoglobinuria skos:exactMatch UMLS:C1834567 semapv:UnspecifiedMatching MONDO:0008046 autosomal dominant myoglobinuria skos:exactMatch mesh:C563546 semapv:UnspecifiedMatching MONDO:0008047 episodic ataxia type 1 skos:exactMatch DOID:0050989 episodic ataxia type 1 semapv:UnspecifiedMatching MONDO:0008047 episodic ataxia type 1 skos:exactMatch OMIM:160120 episodic ataxia, iia 1 semapv:UnspecifiedMatching MONDO:0008047 episodic ataxia type 1 skos:exactMatch Orphanet:37612 Episodic ataxia type 1 semapv:UnspecifiedMatching MONDO:0008047 episodic ataxia type 1 skos:exactMatch SCTID:421182009 semapv:UnspecifiedMatching MONDO:0008047 episodic ataxia type 1 skos:exactMatch UMLS:C1719788 semapv:UnspecifiedMatching MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch DOID:0111217 autosomal dominant centronuclear myopathy semapv:UnspecifiedMatching MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch DOID:0111223 centronuclear myopathy 1 semapv:UnspecifiedMatching MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch NCIT:C126689 Centronuclear Myopathy 1 semapv:UnspecifiedMatching MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch OMIM:160150 myopathy, centronuclear, 1 semapv:UnspecifiedMatching MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:UnspecifiedMatching MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch SCTID:716696006 semapv:UnspecifiedMatching MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch UMLS:C4551952 semapv:UnspecifiedMatching MONDO:0008049 myopathy, distal, infantile-onset skos:exactMatch DOID:0070196 infantile-onset distal myopathy semapv:UnspecifiedMatching MONDO:0008049 myopathy, distal, infantile-onset skos:exactMatch OMIM:160300 myopathy, distal, infantile-onset semapv:UnspecifiedMatching MONDO:0008049 myopathy, distal, infantile-onset skos:exactMatch UMLS:C4011725 semapv:UnspecifiedMatching MONDO:0008050 MYH7-related skeletal myopathy skos:exactMatch DOID:0070197 distal myopathy 1 semapv:UnspecifiedMatching MONDO:0008050 MYH7-related skeletal myopathy skos:exactMatch OMIM:160500 myopathy, distal, 1 semapv:UnspecifiedMatching MONDO:0008050 MYH7-related skeletal myopathy skos:exactMatch Orphanet:59135 Laing early-onset distal myopathy semapv:UnspecifiedMatching MONDO:0008050 MYH7-related skeletal myopathy skos:exactMatch SCTID:764859001 semapv:UnspecifiedMatching MONDO:0008050 MYH7-related skeletal myopathy skos:exactMatch UMLS:C4552004 semapv:UnspecifiedMatching MONDO:0008051 tubular aggregate myopathy skos:exactMatch DOID:0080089 tubular aggregate myopathy 1 semapv:UnspecifiedMatching MONDO:0008051 tubular aggregate myopathy skos:exactMatch OMIMPS:160565 semapv:UnspecifiedMatching MONDO:0008051 tubular aggregate myopathy skos:exactMatch Orphanet:2593 Tubular aggregate myopathy semapv:UnspecifiedMatching MONDO:0008052 myopathy with storage of glycoproteins and Glycosaminoglycans skos:exactMatch OMIM:160570 myopathy with storage of glycoproteins and glycosaminoglycans semapv:UnspecifiedMatching MONDO:0008052 myopathy with storage of glycoproteins and Glycosaminoglycans skos:exactMatch UMLS:C1834532 semapv:UnspecifiedMatching MONDO:0008052 myopathy with storage of glycoproteins and Glycosaminoglycans skos:exactMatch mesh:C563542 semapv:UnspecifiedMatching MONDO:0008053 myopia 2, autosomal dominant skos:exactMatch OMIM:160700 myopia 2, autosomal dominant semapv:UnspecifiedMatching MONDO:0008053 myopia 2, autosomal dominant skos:exactMatch UMLS:C1834531 semapv:UnspecifiedMatching MONDO:0008053 myopia 2, autosomal dominant skos:exactMatch mesh:C563541 semapv:UnspecifiedMatching MONDO:0008054 juvenile dermatomyositis skos:exactMatch DOID:14203 childhood type dermatomyositis semapv:UnspecifiedMatching MONDO:0008054 juvenile dermatomyositis skos:exactMatch NCIT:C27576 Childhood Dermatomyositis semapv:UnspecifiedMatching MONDO:0008054 juvenile dermatomyositis skos:exactMatch Orphanet:93672 Juvenile dermatomyositis semapv:UnspecifiedMatching MONDO:0008054 juvenile dermatomyositis skos:exactMatch SCTID:1212005 semapv:UnspecifiedMatching MONDO:0008055 myotonia congenita, autosomal dominant skos:exactMatch DOID:0081336 Thomsen disease semapv:UnspecifiedMatching MONDO:0008055 myotonia congenita, autosomal dominant skos:exactMatch OMIM:160800 myotonia congenita, autosomal dominant semapv:UnspecifiedMatching MONDO:0008055 myotonia congenita, autosomal dominant skos:exactMatch SCTID:57938005 semapv:UnspecifiedMatching MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch DOID:11722 myotonic dystrophy type 1 semapv:UnspecifiedMatching MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch NCIT:C84679 Dystrophia Myotonica 1 semapv:UnspecifiedMatching MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch OMIM:160900 myotonic dystrophy 1 semapv:UnspecifiedMatching MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch Orphanet:273 Steinert myotonic dystrophy semapv:UnspecifiedMatching MONDO:0008057 Carney complex, type 1 skos:exactMatch OMIM:160980 carney complex, iia 1 semapv:UnspecifiedMatching MONDO:0008058 cylindrical spirals myopathy skos:exactMatch DOID:0080103 cylindrical spirals myopathy semapv:UnspecifiedMatching MONDO:0008058 cylindrical spirals myopathy skos:exactMatch OMIM:160990 myotonic myopathy with cylindrical spirals semapv:UnspecifiedMatching MONDO:0008058 cylindrical spirals myopathy skos:exactMatch Orphanet:171886 Cylindrical spirals myopathy semapv:UnspecifiedMatching MONDO:0008058 cylindrical spirals myopathy skos:exactMatch SCTID:764525006 semapv:UnspecifiedMatching MONDO:0008058 cylindrical spirals myopathy skos:exactMatch UMLS:C1834418 semapv:UnspecifiedMatching MONDO:0008058 cylindrical spirals myopathy skos:exactMatch mesh:C563535 semapv:UnspecifiedMatching MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome semapv:UnspecifiedMatching MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:UnspecifiedMatching MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:UnspecifiedMatching MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch SCTID:239084001 semapv:UnspecifiedMatching MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch UMLS:C0343111 semapv:UnspecifiedMatching MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch mesh:C538331 semapv:UnspecifiedMatching MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:exactMatch DOID:0080079 nonsyndromic congenital nail disorder 1 semapv:UnspecifiedMatching MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:exactMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:UnspecifiedMatching MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:exactMatch Orphanet:79153 Idiopathic trachyonychia semapv:UnspecifiedMatching MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:exactMatch SCTID:238719003 semapv:UnspecifiedMatching MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:exactMatch UMLS:C0406443 semapv:UnspecifiedMatching MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:exactMatch mesh:C562907 semapv:UnspecifiedMatching MONDO:0008061 nail-patella syndrome skos:exactMatch DOID:9467 nail-patella syndrome semapv:UnspecifiedMatching MONDO:0008061 nail-patella syndrome skos:exactMatch NCIT:C75120 Nail-Patella Syndrome semapv:UnspecifiedMatching MONDO:0008061 nail-patella syndrome skos:exactMatch OMIM:161200 nail-patella syndrome semapv:UnspecifiedMatching MONDO:0008061 nail-patella syndrome skos:exactMatch Orphanet:2614 Nail-patella syndrome semapv:UnspecifiedMatching MONDO:0008061 nail-patella syndrome skos:exactMatch SCTID:22199006 semapv:UnspecifiedMatching MONDO:0008061 nail-patella syndrome skos:exactMatch UMLS:C0027341 semapv:UnspecifiedMatching MONDO:0008061 nail-patella syndrome skos:exactMatch mesh:D009261 semapv:UnspecifiedMatching MONDO:0008062 narcolepsy 1 skos:exactMatch NCIT:C84618 Cataplexy semapv:UnspecifiedMatching MONDO:0008062 narcolepsy 1 skos:exactMatch OMIM:161400 narcolepsy 1 semapv:UnspecifiedMatching MONDO:0008062 narcolepsy 1 skos:exactMatch SCTID:46263000 semapv:UnspecifiedMatching MONDO:0008062 narcolepsy 1 skos:exactMatch UMLS:C1834372 semapv:UnspecifiedMatching MONDO:0008062 narcolepsy 1 skos:exactMatch mesh:C563534 semapv:UnspecifiedMatching MONDO:0008063 nasal alar collapse, bilateral skos:exactMatch OMIM:161470 nasal alar collapse, bilateral semapv:UnspecifiedMatching MONDO:0008063 nasal alar collapse, bilateral skos:exactMatch UMLS:C1834371 semapv:UnspecifiedMatching MONDO:0008063 nasal alar collapse, bilateral skos:exactMatch mesh:C563533 semapv:UnspecifiedMatching MONDO:0008064 nasal bones, absence of skos:exactMatch OMIM:161480 nasal bones, absence of semapv:UnspecifiedMatching MONDO:0008064 nasal bones, absence of skos:exactMatch UMLS:C0339851 semapv:UnspecifiedMatching MONDO:0008064 nasal bones, absence of skos:exactMatch mesh:C562753 semapv:UnspecifiedMatching MONDO:0008065 nasal groove, familial transverse skos:exactMatch OMIM:161500 nasal groove, familial transverse semapv:UnspecifiedMatching MONDO:0008065 nasal groove, familial transverse skos:exactMatch UMLS:C1834370 semapv:UnspecifiedMatching MONDO:0008066 nasal hyperpigmentation, familial transverse skos:exactMatch OMIM:161530 nasal hyperpigmentation, familial transverse semapv:UnspecifiedMatching MONDO:0008066 nasal hyperpigmentation, familial transverse skos:exactMatch UMLS:C1834369 semapv:UnspecifiedMatching MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 skos:exactMatch OMIM:161550 nasopharyngeal carcinoma, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 skos:exactMatch UMLS:C2750548 semapv:UnspecifiedMatching MONDO:0008068 obsolete navicular bone, accessory skos:exactMatch OMIM:161600 navicular bone, accessory semapv:UnspecifiedMatching MONDO:0008068 obsolete navicular bone, accessory skos:exactMatch mesh:C536002 semapv:UnspecifiedMatching MONDO:0008069 necrotizing encephalomyelopathy, subacute, of Leigh, adult skos:exactMatch OMIM:161700 necrotizing encephalomyelopathy, subacute, of leigh, adult semapv:UnspecifiedMatching MONDO:0008069 necrotizing encephalomyelopathy, subacute, of Leigh, adult skos:exactMatch UMLS:C1834340 semapv:UnspecifiedMatching MONDO:0008069 necrotizing encephalomyelopathy, subacute, of Leigh, adult skos:exactMatch mesh:C563530 semapv:UnspecifiedMatching MONDO:0008070 nemaline myopathy 3 skos:exactMatch DOID:0110927 nemaline myopathy 3 semapv:UnspecifiedMatching MONDO:0008070 nemaline myopathy 3 skos:exactMatch NCIT:C129870 Nemaline Myopathy 3 semapv:UnspecifiedMatching MONDO:0008070 nemaline myopathy 3 skos:exactMatch OMIM:161800 congenital myopathy 2a, typical, autosomal dominant semapv:UnspecifiedMatching MONDO:0008070 nemaline myopathy 3 skos:exactMatch Orphanet:98904 Congenital myopathy with excess of thin filaments semapv:UnspecifiedMatching MONDO:0008070 nemaline myopathy 3 skos:exactMatch SCTID:702349003 semapv:UnspecifiedMatching MONDO:0008070 nemaline myopathy 3 skos:exactMatch UMLS:C3711389 semapv:UnspecifiedMatching MONDO:0008070 nemaline myopathy 3 skos:exactMatch mesh:C579880 semapv:UnspecifiedMatching MONDO:0008070 nemaline myopathy 3 skos:exactMatch mesh:C580202 semapv:UnspecifiedMatching MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:exactMatch OMIM:161900 renal failure, progressive, with hypertension semapv:UnspecifiedMatching MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:exactMatch Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension semapv:UnspecifiedMatching MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:exactMatch SCTID:703310005 semapv:UnspecifiedMatching MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:exactMatch UMLS:C0403443 semapv:UnspecifiedMatching MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:exactMatch mesh:C562889 semapv:UnspecifiedMatching MONDO:0008072 IgA nephropathy, susceptibility to, 1 skos:exactMatch OMIM:161950 iga nephropathy, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch NCIT:C123172 Medullary Cystic Kidney Disease Type II semapv:UnspecifiedMatching MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:UnspecifiedMatching MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:UnspecifiedMatching MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch SCTID:445503007 semapv:UnspecifiedMatching MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch UMLS:C4551496 semapv:UnspecifiedMatching MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch mesh:C563693 semapv:UnspecifiedMatching MONDO:0008074 obsolete nerve growth factor, alpha subunit skos:exactMatch OMIM:162020 semapv:UnspecifiedMatching MONDO:0008075 schwannomatosis skos:exactMatch DOID:3204 schwannomatosis semapv:UnspecifiedMatching MONDO:0008075 schwannomatosis skos:exactMatch NCIT:C6557 Schwannomatosis semapv:UnspecifiedMatching MONDO:0008075 schwannomatosis skos:exactMatch OMIMPS:162091 semapv:UnspecifiedMatching MONDO:0008075 schwannomatosis skos:exactMatch Orphanet:93921 Full schwannomatosis semapv:UnspecifiedMatching MONDO:0008075 schwannomatosis skos:exactMatch UMLS:C1335929 semapv:UnspecifiedMatching MONDO:0008076 amyotrophic neuralgia skos:exactMatch DOID:10383 amyotrophic neuralgia semapv:UnspecifiedMatching MONDO:0008076 amyotrophic neuralgia skos:exactMatch OMIM:162100 amyotrophy, hereditary neuralgic semapv:UnspecifiedMatching MONDO:0008076 amyotrophic neuralgia skos:exactMatch SCTID:26609002 semapv:UnspecifiedMatching MONDO:0008078 neurofibromatosis, familial spinal skos:exactMatch OMIM:162210 neurofibromatosis, familial spinal semapv:UnspecifiedMatching MONDO:0008078 neurofibromatosis, familial spinal skos:exactMatch UMLS:C1834235 semapv:UnspecifiedMatching MONDO:0008078 neurofibromatosis, familial spinal skos:exactMatch mesh:C563523 semapv:UnspecifiedMatching MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome skos:exactMatch OMIM:162240 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome semapv:UnspecifiedMatching MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome skos:exactMatch UMLS:C1834232 semapv:UnspecifiedMatching MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome skos:exactMatch mesh:C563522 semapv:UnspecifiedMatching MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:exactMatch OMIM:162260 neurofibromatosis, iia iii, mixed central and peripheral semapv:UnspecifiedMatching MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:exactMatch SCTID:254240003 semapv:UnspecifiedMatching MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:exactMatch mesh:C537389 semapv:UnspecifiedMatching MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:exactMatch OMIM:162270 neurofibromatosis, iia iv, of riccardi semapv:UnspecifiedMatching MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:exactMatch mesh:C537392 semapv:UnspecifiedMatching MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch DOID:10016 multiple endocrine neoplasia type 2B semapv:UnspecifiedMatching MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch NCIT:C3227 Multiple Endocrine Neoplasia Type 2B semapv:UnspecifiedMatching MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch OMIM:162300 multiple endocrine neoplasia, iia 2b semapv:UnspecifiedMatching MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:UnspecifiedMatching MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch SCTID:61530001 semapv:UnspecifiedMatching MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch UMLS:C0025269 semapv:UnspecifiedMatching MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch mesh:D018814 semapv:UnspecifiedMatching MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:exactMatch DOID:0110720 neuronal ceroid lipofuscinosis 4 semapv:UnspecifiedMatching MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:exactMatch NCIT:C128116 Neuronal Ceroid Lipofuscinosis Type 4B semapv:UnspecifiedMatching MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:exactMatch OMIM:162350 ceroid lipofuscinosis, neuronal, 4 (kufs type) semapv:UnspecifiedMatching MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:exactMatch Orphanet:228343 OBSOLETE: CLN4B disease semapv:UnspecifiedMatching MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:exactMatch UMLS:C1834207 semapv:UnspecifiedMatching MONDO:0008084 neuropathy, congenital, with arthrogryposis multiplex skos:exactMatch OMIM:162370 neuropathy, congenital, with arthrogryposis multiplex semapv:UnspecifiedMatching MONDO:0008084 neuropathy, congenital, with arthrogryposis multiplex skos:exactMatch UMLS:C1834206 semapv:UnspecifiedMatching MONDO:0008084 neuropathy, congenital, with arthrogryposis multiplex skos:exactMatch mesh:C535714 semapv:UnspecifiedMatching MONDO:0008085 obsolete neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance skos:exactMatch OMIM:162380 neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance semapv:UnspecifiedMatching MONDO:0008085 obsolete neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance skos:exactMatch UMLS:C1834205 semapv:UnspecifiedMatching MONDO:0008085 obsolete neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance skos:exactMatch mesh:C563517 semapv:UnspecifiedMatching MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:exactMatch DOID:0070152 hereditary sensory and autonomic neuropathy type 1A semapv:UnspecifiedMatching MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:exactMatch OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a semapv:UnspecifiedMatching MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch DOID:0060843 hereditary neuropathy with liability to pressure palsies semapv:UnspecifiedMatching MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch OMIM:162500 neuropathy, hereditary, with liability to pressure palsies semapv:UnspecifiedMatching MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch Orphanet:640 Hereditary neuropathy with liability to pressure palsies semapv:UnspecifiedMatching MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch SCTID:230558006 semapv:UnspecifiedMatching MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch mesh:C536965 semapv:UnspecifiedMatching MONDO:0008088 neuropathy, with paraprotein in serum, cerebrospinal fluid and urine skos:exactMatch OMIM:162600 neuropathy, with paraprotein 1n serum, cerebrospinal fluid and urine semapv:UnspecifiedMatching MONDO:0008088 neuropathy, with paraprotein in serum, cerebrospinal fluid and urine skos:exactMatch UMLS:C1834180 semapv:UnspecifiedMatching MONDO:0008088 neuropathy, with paraprotein in serum, cerebrospinal fluid and urine skos:exactMatch mesh:C563516 semapv:UnspecifiedMatching MONDO:0008089 neutropenia, chronic familial skos:exactMatch OMIM:162700 neutropenia, chronic familial semapv:UnspecifiedMatching MONDO:0008089 neutropenia, chronic familial skos:exactMatch SCTID:234576008 semapv:UnspecifiedMatching MONDO:0008089 neutropenia, chronic familial skos:exactMatch UMLS:C3665676 semapv:UnspecifiedMatching MONDO:0008089 neutropenia, chronic familial skos:exactMatch mesh:C535815 semapv:UnspecifiedMatching MONDO:0008090 cyclic hematopoiesis skos:exactMatch DOID:5339 cyclic hematopoiesis semapv:UnspecifiedMatching MONDO:0008090 cyclic hematopoiesis skos:exactMatch NCIT:C3820 Cyclic Neutropenia semapv:UnspecifiedMatching MONDO:0008090 cyclic hematopoiesis skos:exactMatch OMIM:162800 cyclic neutropenia semapv:UnspecifiedMatching MONDO:0008090 cyclic hematopoiesis skos:exactMatch Orphanet:2686 Cyclic neutropenia semapv:UnspecifiedMatching MONDO:0008090 cyclic hematopoiesis skos:exactMatch SCTID:191347008 semapv:UnspecifiedMatching MONDO:0008090 cyclic hematopoiesis skos:exactMatch mesh:C536227 semapv:UnspecifiedMatching MONDO:0008091 obsolete abnormal neutrophil chemotactic response skos:exactMatch OMIM:162820 semapv:UnspecifiedMatching MONDO:0008092 hereditary neutrophilia skos:exactMatch DOID:0090120 hereditary neutrophilia semapv:UnspecifiedMatching MONDO:0008092 hereditary neutrophilia skos:exactMatch OMIM:162830 neutrophilia, hereditary semapv:UnspecifiedMatching MONDO:0008092 hereditary neutrophilia skos:exactMatch Orphanet:279943 Hereditary neutrophilia semapv:UnspecifiedMatching MONDO:0008092 hereditary neutrophilia skos:exactMatch SCTID:129639005 semapv:UnspecifiedMatching MONDO:0008092 hereditary neutrophilia skos:exactMatch UMLS:C0543669 semapv:UnspecifiedMatching MONDO:0008092 hereditary neutrophilia skos:exactMatch mesh:C563010 semapv:UnspecifiedMatching MONDO:0008093 nevus, epidermal skos:exactMatch DOID:0111162 epidermal nevus semapv:UnspecifiedMatching MONDO:0008093 nevus, epidermal skos:exactMatch NCIT:C4088 Epidermal Nevus semapv:UnspecifiedMatching MONDO:0008093 nevus, epidermal skos:exactMatch OMIM:162900 nevus, epidermal semapv:UnspecifiedMatching MONDO:0008093 nevus, epidermal skos:exactMatch mesh:C580062 semapv:UnspecifiedMatching MONDO:0008094 familial multiple nevi flammei skos:exactMatch DOID:0111529 familial multiple nevi flammei semapv:UnspecifiedMatching MONDO:0008094 familial multiple nevi flammei skos:exactMatch NCIT:C3840 Port Wine Stain semapv:UnspecifiedMatching MONDO:0008094 familial multiple nevi flammei skos:exactMatch OMIM:163000 capillary malformations, congenital semapv:UnspecifiedMatching MONDO:0008094 familial multiple nevi flammei skos:exactMatch Orphanet:624 Familial multiple nevi flammei semapv:UnspecifiedMatching MONDO:0008094 familial multiple nevi flammei skos:exactMatch SCTID:416377005 semapv:UnspecifiedMatching MONDO:0008094 familial multiple nevi flammei skos:exactMatch UMLS:C2931029 semapv:UnspecifiedMatching MONDO:0008095 nevus anemicus skos:exactMatch NCIT:C3943 Nevus Anemicus semapv:UnspecifiedMatching MONDO:0008095 nevus anemicus skos:exactMatch OMIM:163050 nevus anemicus semapv:UnspecifiedMatching MONDO:0008095 nevus anemicus skos:exactMatch SCTID:40929003 semapv:UnspecifiedMatching MONDO:0008096 nevus flammeus of nape of neck skos:exactMatch OMIM:163100 nevus flammeus of nape of neck semapv:UnspecifiedMatching MONDO:0008096 nevus flammeus of nape of neck skos:exactMatch mesh:C567524 semapv:UnspecifiedMatching MONDO:0008097 linear nevus sebaceous syndrome skos:exactMatch DOID:0111530 linear nevus sebaceous syndrome semapv:UnspecifiedMatching MONDO:0008097 linear nevus sebaceous syndrome skos:exactMatch NCIT:C4678 Organoid Nevus semapv:UnspecifiedMatching MONDO:0008097 linear nevus sebaceous syndrome skos:exactMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:UnspecifiedMatching MONDO:0008097 linear nevus sebaceous syndrome skos:exactMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:UnspecifiedMatching MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:exactMatch OMIM:163400 nievergelt syndrome semapv:UnspecifiedMatching MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:exactMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:UnspecifiedMatching MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:exactMatch SCTID:33979003 semapv:UnspecifiedMatching MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:exactMatch UMLS:C0432231 semapv:UnspecifiedMatching MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:exactMatch mesh:C536120 semapv:UnspecifiedMatching MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:exactMatch DOID:0110863 congenital stationary night blindness autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:exactMatch OMIM:163500 night blindness, congenital stationary, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:exactMatch UMLS:C1876182 semapv:UnspecifiedMatching MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:exactMatch mesh:C566869 semapv:UnspecifiedMatching MONDO:0008100 nipples inverted skos:exactMatch OMIM:163600 nipples inverted semapv:UnspecifiedMatching MONDO:0008101 familial supernumerary nipples skos:exactMatch OMIM:163700 nipples, supernumerary semapv:UnspecifiedMatching MONDO:0008101 familial supernumerary nipples skos:exactMatch Orphanet:2456 Familial supernumerary nipples semapv:UnspecifiedMatching MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:exactMatch OMIM:163800 sick sinus syndrome 2 semapv:UnspecifiedMatching MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:exactMatch UMLS:C1834144 semapv:UnspecifiedMatching MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:exactMatch mesh:C563513 semapv:UnspecifiedMatching MONDO:0008103 noduli Cutanei, multiple, with urinary tract abnormalities skos:exactMatch OMIM:163850 noduli cutanei, multiple, with urinary tract abnormalities semapv:UnspecifiedMatching MONDO:0008103 noduli Cutanei, multiple, with urinary tract abnormalities skos:exactMatch UMLS:C1834143 semapv:UnspecifiedMatching MONDO:0008103 noduli Cutanei, multiple, with urinary tract abnormalities skos:exactMatch mesh:C563512 semapv:UnspecifiedMatching MONDO:0008104 Noonan syndrome 1 skos:exactMatch DOID:0060578 Noonan syndrome 1 semapv:UnspecifiedMatching MONDO:0008104 Noonan syndrome 1 skos:exactMatch NCIT:C75459 Noonan Syndrome 1 semapv:UnspecifiedMatching MONDO:0008104 Noonan syndrome 1 skos:exactMatch OMIM:163950 noonan syndrome 1 semapv:UnspecifiedMatching MONDO:0008104 Noonan syndrome 1 skos:exactMatch UMLS:C4551602 semapv:UnspecifiedMatching MONDO:0008105 nose, anomalous shape of skos:exactMatch OMIM:164000 nose, anomalous shape of semapv:UnspecifiedMatching MONDO:0008105 nose, anomalous shape of skos:exactMatch mesh:C538354 semapv:UnspecifiedMatching MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:exactMatch DOID:0111792 congenital nystagmus 2 semapv:UnspecifiedMatching MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:exactMatch OMIM:164100 nystagmus 2, congenital, autosomal dominant semapv:UnspecifiedMatching MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:exactMatch mesh:C537854 semapv:UnspecifiedMatching MONDO:0008107 nystagmus, hereditary vertical skos:exactMatch OMIM:164150 nystagmus, hereditary vertical semapv:UnspecifiedMatching MONDO:0008107 nystagmus, hereditary vertical skos:exactMatch UMLS:C1834078 semapv:UnspecifiedMatching MONDO:0008107 nystagmus, hereditary vertical skos:exactMatch mesh:C537857 semapv:UnspecifiedMatching MONDO:0008108 oculocerebrocutaneous syndrome skos:exactMatch OMIM:164180 oculocerebrocutaneous syndrome semapv:UnspecifiedMatching MONDO:0008108 oculocerebrocutaneous syndrome skos:exactMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:UnspecifiedMatching MONDO:0008108 oculocerebrocutaneous syndrome skos:exactMatch SCTID:403554008 semapv:UnspecifiedMatching MONDO:0008108 oculocerebrocutaneous syndrome skos:exactMatch UMLS:C0796092 semapv:UnspecifiedMatching MONDO:0008108 oculocerebrocutaneous syndrome skos:exactMatch mesh:C538088 semapv:UnspecifiedMatching MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch NCIT:C84939 Ocular Cicatricial Pemphigoid semapv:UnspecifiedMatching MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch OMIM:164185 ocular cicatricial pemphigoid semapv:UnspecifiedMatching MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch SCTID:314757003 semapv:UnspecifiedMatching MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch UMLS:C1282359 semapv:UnspecifiedMatching MONDO:0008110 obsolete ocular dominance skos:exactMatch OMIM:164190 ocular dominance semapv:UnspecifiedMatching MONDO:0008111 oculodentodigital dysplasia skos:exactMatch DOID:0060291 oculodentodigital dysplasia semapv:UnspecifiedMatching MONDO:0008111 oculodentodigital dysplasia skos:exactMatch OMIM:164200 oculodentodigital dysplasia semapv:UnspecifiedMatching MONDO:0008111 oculodentodigital dysplasia skos:exactMatch Orphanet:2710 Oculodentodigital dysplasia semapv:UnspecifiedMatching MONDO:0008111 oculodentodigital dysplasia skos:exactMatch SCTID:38215007 semapv:UnspecifiedMatching MONDO:0008111 oculodentodigital dysplasia skos:exactMatch mesh:C563160 semapv:UnspecifiedMatching MONDO:0008113 Schilbach-Rott syndrome skos:exactMatch OMIM:164220 schilbach-rott syndrome semapv:UnspecifiedMatching MONDO:0008113 Schilbach-Rott syndrome skos:exactMatch Orphanet:2353 Schilbach-Rott syndrome semapv:UnspecifiedMatching MONDO:0008113 Schilbach-Rott syndrome skos:exactMatch SCTID:721902002 semapv:UnspecifiedMatching MONDO:0008113 Schilbach-Rott syndrome skos:exactMatch mesh:C563509 semapv:UnspecifiedMatching MONDO:0008114 obsessive-compulsive disorder skos:exactMatch DOID:10933 obsessive-compulsive disorder semapv:UnspecifiedMatching MONDO:0008114 obsessive-compulsive disorder skos:exactMatch ICD10CM:F42 Obsessive-compulsive disorder semapv:UnspecifiedMatching MONDO:0008114 obsessive-compulsive disorder skos:exactMatch NCIT:C88411 Obsessive Compulsive Disorder semapv:UnspecifiedMatching MONDO:0008114 obsessive-compulsive disorder skos:exactMatch OMIM:164230 obsessive-compulsive disorder semapv:UnspecifiedMatching MONDO:0008114 obsessive-compulsive disorder skos:exactMatch SCTID:191736004 semapv:UnspecifiedMatching MONDO:0008114 obsessive-compulsive disorder skos:exactMatch mesh:D009771 semapv:UnspecifiedMatching MONDO:0008115 Feingold syndrome type 1 skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:UnspecifiedMatching MONDO:0008115 Feingold syndrome type 1 skos:exactMatch Orphanet:391641 Feingold syndrome type 1 semapv:UnspecifiedMatching MONDO:0008115 Feingold syndrome type 1 skos:exactMatch SCTID:702431004 semapv:UnspecifiedMatching MONDO:0008115 Feingold syndrome type 1 skos:exactMatch UMLS:C4551774 semapv:UnspecifiedMatching MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch DOID:11719 oculopharyngeal muscular dystrophy semapv:UnspecifiedMatching MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch OMIMPS:164300 semapv:UnspecifiedMatching MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:UnspecifiedMatching MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch SCTID:77097004 semapv:UnspecifiedMatching MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch UMLS:C0270952 semapv:UnspecifiedMatching MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch mesh:D039141 semapv:UnspecifiedMatching MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:exactMatch OMIM:164330 odontoma-dysphagia syndrome semapv:UnspecifiedMatching MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:exactMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:UnspecifiedMatching MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:exactMatch SCTID:716180009 semapv:UnspecifiedMatching MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:exactMatch UMLS:C1834013 semapv:UnspecifiedMatching MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:exactMatch mesh:C537740 semapv:UnspecifiedMatching MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch DOID:0050954 spinocerebellar ataxia type 1 semapv:UnspecifiedMatching MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch NCIT:C129982 Spinocerebellar Ataxia Type 1 semapv:UnspecifiedMatching MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch OMIM:164400 spinocerebellar ataxia 1 semapv:UnspecifiedMatching MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:UnspecifiedMatching MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch SCTID:715748006 semapv:UnspecifiedMatching MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch UMLS:C0752120 semapv:UnspecifiedMatching MONDO:0008121 onychogryposis, pedal, with keratosis plantaris and coarse hair skos:exactMatch OMIM:164680 onychogryposis, pedal, with keratosis plantaris and coarse hair semapv:UnspecifiedMatching MONDO:0008121 onychogryposis, pedal, with keratosis plantaris and coarse hair skos:exactMatch UMLS:C1833997 semapv:UnspecifiedMatching MONDO:0008121 onychogryposis, pedal, with keratosis plantaris and coarse hair skos:exactMatch mesh:C563506 semapv:UnspecifiedMatching MONDO:0008123 autosomal dominant omodysplasia skos:exactMatch DOID:0080845 omodysplasia 2 semapv:UnspecifiedMatching MONDO:0008123 autosomal dominant omodysplasia skos:exactMatch OMIM:164745 omodysplasia 2 semapv:UnspecifiedMatching MONDO:0008123 autosomal dominant omodysplasia skos:exactMatch Orphanet:93328 Autosomal dominant omodysplasia semapv:UnspecifiedMatching MONDO:0008123 autosomal dominant omodysplasia skos:exactMatch SCTID:725165009 semapv:UnspecifiedMatching MONDO:0008123 autosomal dominant omodysplasia skos:exactMatch mesh:C567664 semapv:UnspecifiedMatching MONDO:0008124 omphalocele, autosomal skos:exactMatch OMIM:164750 omphalocele, autosomal semapv:UnspecifiedMatching MONDO:0008124 omphalocele, autosomal skos:exactMatch UMLS:C3277235 semapv:UnspecifiedMatching MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:exactMatch DOID:0080083 nonsyndromic congenital nail disorder 5 semapv:UnspecifiedMatching MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:exactMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:UnspecifiedMatching MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:exactMatch UMLS:C1833909 semapv:UnspecifiedMatching MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:exactMatch mesh:C563503 semapv:UnspecifiedMatching MONDO:0008126 obsolete oncogene Yuasa skos:exactMatch OMIM:164891 semapv:UnspecifiedMatching MONDO:0008127 ophthalmomandibulomelic dysplasia skos:exactMatch OMIM:164900 ophthalmomandibulomelic dysplasia semapv:UnspecifiedMatching MONDO:0008127 ophthalmomandibulomelic dysplasia skos:exactMatch Orphanet:2741 Ophthalmomandibulomelic dysplasia semapv:UnspecifiedMatching MONDO:0008127 ophthalmomandibulomelic dysplasia skos:exactMatch SCTID:715484003 semapv:UnspecifiedMatching MONDO:0008127 ophthalmomandibulomelic dysplasia skos:exactMatch UMLS:C1833872 semapv:UnspecifiedMatching MONDO:0008127 ophthalmomandibulomelic dysplasia skos:exactMatch mesh:C563501 semapv:UnspecifiedMatching MONDO:0008128 ophthalmoplegia, familial static skos:exactMatch OMIM:165000 ophthalmoplegia, familial static semapv:UnspecifiedMatching MONDO:0008128 ophthalmoplegia, familial static skos:exactMatch UMLS:C1833839 semapv:UnspecifiedMatching MONDO:0008128 ophthalmoplegia, familial static skos:exactMatch mesh:C563500 semapv:UnspecifiedMatching MONDO:0008129 ophthalmoplegia, familial total, with iris transillumination skos:exactMatch OMIM:165098 ophthalmoplegia, familial total, with iris transillumination semapv:UnspecifiedMatching MONDO:0008129 ophthalmoplegia, familial total, with iris transillumination skos:exactMatch UMLS:C1833836 semapv:UnspecifiedMatching MONDO:0008129 ophthalmoplegia, familial total, with iris transillumination skos:exactMatch mesh:C563499 semapv:UnspecifiedMatching MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:exactMatch OMIM:165150 ophthalmoplegia, progressive, with scrotal tongue and mental deficiency semapv:UnspecifiedMatching MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:exactMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:UnspecifiedMatching MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:exactMatch UMLS:C1833835 semapv:UnspecifiedMatching MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:exactMatch mesh:C563498 semapv:UnspecifiedMatching MONDO:0008131 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant skos:exactMatch OMIM:165199 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant semapv:UnspecifiedMatching MONDO:0008131 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant skos:exactMatch UMLS:C1833831 semapv:UnspecifiedMatching MONDO:0008131 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant skos:exactMatch mesh:C563497 semapv:UnspecifiedMatching MONDO:0008132 optic atrophy with demyelinating disease of CNS skos:exactMatch DOID:0111756 Leber hereditary optic neuropathy with demyelinating disease of CNS semapv:UnspecifiedMatching MONDO:0008132 optic atrophy with demyelinating disease of CNS skos:exactMatch OMIM:165200 optic atrophy with demyelinating disease of cns semapv:UnspecifiedMatching MONDO:0008132 optic atrophy with demyelinating disease of CNS skos:exactMatch UMLS:C1833830 semapv:UnspecifiedMatching MONDO:0008132 optic atrophy with demyelinating disease of CNS skos:exactMatch mesh:C563496 semapv:UnspecifiedMatching MONDO:0008133 optic atrophy 3 skos:exactMatch DOID:0111433 optic atrophy 3 semapv:UnspecifiedMatching MONDO:0008133 optic atrophy 3 skos:exactMatch OMIM:165300 optic atrophy 3, autosomal dominant semapv:UnspecifiedMatching MONDO:0008133 optic atrophy 3 skos:exactMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:UnspecifiedMatching MONDO:0008133 optic atrophy 3 skos:exactMatch SCTID:719517009 semapv:UnspecifiedMatching MONDO:0008133 optic atrophy 3 skos:exactMatch UMLS:C1833809 semapv:UnspecifiedMatching MONDO:0008133 optic atrophy 3 skos:exactMatch mesh:C537128 semapv:UnspecifiedMatching MONDO:0008134 autosomal dominant optic atrophy, classic form skos:exactMatch DOID:0111441 optic atrophy 1 semapv:UnspecifiedMatching MONDO:0008134 autosomal dominant optic atrophy, classic form skos:exactMatch OMIM:165500 optic atrophy 1 semapv:UnspecifiedMatching MONDO:0008134 autosomal dominant optic atrophy, classic form skos:exactMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:UnspecifiedMatching MONDO:0008134 autosomal dominant optic atrophy, classic form skos:exactMatch SCTID:717336005 semapv:UnspecifiedMatching MONDO:0008134 autosomal dominant optic atrophy, classic form skos:exactMatch UMLS:C0338508 semapv:UnspecifiedMatching MONDO:0008135 optic atrophy 13 with retinal and foveal abnormalities skos:exactMatch OMIM:165510 optic atrophy 13 with retinal and foveal abnormalities semapv:UnspecifiedMatching MONDO:0008135 optic atrophy 13 with retinal and foveal abnormalities skos:exactMatch UMLS:C5435585 semapv:UnspecifiedMatching MONDO:0008135 optic atrophy 13 with retinal and foveal abnormalities skos:exactMatch mesh:C563494 semapv:UnspecifiedMatching MONDO:0008136 isolated optic nerve hypoplasia skos:exactMatch DOID:0111531 bilateral optic nerve hypoplasia semapv:UnspecifiedMatching MONDO:0008136 isolated optic nerve hypoplasia skos:exactMatch OMIM:165550 optic nerve hypoplasia, bilateral semapv:UnspecifiedMatching MONDO:0008136 isolated optic nerve hypoplasia skos:exactMatch Orphanet:137902 OBSOLETE: Isolated optic nerve hypoplasia/aplasia semapv:UnspecifiedMatching MONDO:0008136 isolated optic nerve hypoplasia skos:exactMatch SCTID:724999003 semapv:UnspecifiedMatching MONDO:0008136 isolated optic nerve hypoplasia skos:exactMatch UMLS:C1833797 semapv:UnspecifiedMatching MONDO:0008137 orofaciodigital syndrome X skos:exactMatch DOID:0060380 orofaciodigital syndrome X semapv:UnspecifiedMatching MONDO:0008137 orofaciodigital syndrome X skos:exactMatch OMIM:165590 orofaciodigital syndrome 10 semapv:UnspecifiedMatching MONDO:0008137 orofaciodigital syndrome X skos:exactMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:UnspecifiedMatching MONDO:0008137 orofaciodigital syndrome X skos:exactMatch SCTID:722075004 semapv:UnspecifiedMatching MONDO:0008137 orofaciodigital syndrome X skos:exactMatch UMLS:C1833796 semapv:UnspecifiedMatching MONDO:0008137 orofaciodigital syndrome X skos:exactMatch mesh:C563491 semapv:UnspecifiedMatching MONDO:0008138 syndromic orbital border hypoplasia skos:exactMatch OMIM:165600 orbital margin, hypoplasia of semapv:UnspecifiedMatching MONDO:0008138 syndromic orbital border hypoplasia skos:exactMatch Orphanet:98606 Syndromic orbital border hypoplasia semapv:UnspecifiedMatching MONDO:0008138 syndromic orbital border hypoplasia skos:exactMatch SCTID:717337001 semapv:UnspecifiedMatching MONDO:0008138 syndromic orbital border hypoplasia skos:exactMatch UMLS:C1833795 semapv:UnspecifiedMatching MONDO:0008138 syndromic orbital border hypoplasia skos:exactMatch mesh:C563490 semapv:UnspecifiedMatching MONDO:0008139 OSLAM syndrome skos:exactMatch OMIM:165660 oslam syndrome semapv:UnspecifiedMatching MONDO:0008139 OSLAM syndrome skos:exactMatch Orphanet:2760 OSLAM syndrome semapv:UnspecifiedMatching MONDO:0008139 OSLAM syndrome skos:exactMatch SCTID:733064004 semapv:UnspecifiedMatching MONDO:0008139 OSLAM syndrome skos:exactMatch UMLS:C1833792 semapv:UnspecifiedMatching MONDO:0008139 OSLAM syndrome skos:exactMatch mesh:C537138 semapv:UnspecifiedMatching MONDO:0008140 ossified ear cartilages skos:exactMatch OMIM:165670 ossified ear cartilages semapv:UnspecifiedMatching MONDO:0008140 ossified ear cartilages skos:exactMatch UMLS:C1833791 semapv:UnspecifiedMatching MONDO:0008140 ossified ear cartilages skos:exactMatch mesh:C563488 semapv:UnspecifiedMatching MONDO:0008141 ossicular malformations, familial skos:exactMatch OMIM:165680 ossicular malformations, familial semapv:UnspecifiedMatching MONDO:0008141 ossicular malformations, familial skos:exactMatch UMLS:C1833790 semapv:UnspecifiedMatching MONDO:0008141 ossicular malformations, familial skos:exactMatch mesh:C537142 semapv:UnspecifiedMatching MONDO:0008142 Thiemann disease, familial form skos:exactMatch OMIM:165700 thiemann disease semapv:UnspecifiedMatching MONDO:0008142 Thiemann disease, familial form skos:exactMatch Orphanet:3314 Thiemann disease, familial form semapv:UnspecifiedMatching MONDO:0008142 Thiemann disease, familial form skos:exactMatch SCTID:55166000 semapv:UnspecifiedMatching MONDO:0008142 Thiemann disease, familial form skos:exactMatch UMLS:C0264081 semapv:UnspecifiedMatching MONDO:0008142 Thiemann disease, familial form skos:exactMatch mesh:C537144 semapv:UnspecifiedMatching MONDO:0008143 osteoarthritis susceptibility 1 skos:exactMatch OMIM:165720 osteoarthritis susceptibility 1 semapv:UnspecifiedMatching MONDO:0008145 Ollier disease skos:exactMatch DOID:4624 Ollier disease semapv:UnspecifiedMatching MONDO:0008145 Ollier disease skos:exactMatch NCIT:C3008 Enchondromatosis semapv:UnspecifiedMatching MONDO:0008145 Ollier disease skos:exactMatch OMIM:166000 enchondromatosis, multiple, ollier iia semapv:UnspecifiedMatching MONDO:0008145 Ollier disease skos:exactMatch Orphanet:296 Ollier disease semapv:UnspecifiedMatching MONDO:0008145 Ollier disease skos:exactMatch SCTID:268274005 semapv:UnspecifiedMatching MONDO:0008145 Ollier disease skos:exactMatch UMLS:C0014084 semapv:UnspecifiedMatching MONDO:0008146 osteogenesis imperfecta type 1 skos:exactMatch DOID:0110334 osteogenesis imperfecta type 1 semapv:UnspecifiedMatching MONDO:0008146 osteogenesis imperfecta type 1 skos:exactMatch NCIT:C99003 Osteogenesis Imperfecta Type I semapv:UnspecifiedMatching MONDO:0008146 osteogenesis imperfecta type 1 skos:exactMatch OMIM:166200 osteogenesis imperfecta, iia 1 semapv:UnspecifiedMatching MONDO:0008146 osteogenesis imperfecta type 1 skos:exactMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:UnspecifiedMatching MONDO:0008146 osteogenesis imperfecta type 1 skos:exactMatch SCTID:385482004 semapv:UnspecifiedMatching MONDO:0008146 osteogenesis imperfecta type 1 skos:exactMatch UMLS:C0023931 semapv:UnspecifiedMatching MONDO:0008147 osteogenesis imperfecta type 2 skos:exactMatch DOID:0110341 osteogenesis imperfecta type 2 semapv:UnspecifiedMatching MONDO:0008147 osteogenesis imperfecta type 2 skos:exactMatch NCIT:C99001 Osteogenesis Imperfecta Type II semapv:UnspecifiedMatching MONDO:0008147 osteogenesis imperfecta type 2 skos:exactMatch OMIM:166210 osteogenesis imperfecta, iia 2 semapv:UnspecifiedMatching MONDO:0008147 osteogenesis imperfecta type 2 skos:exactMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:UnspecifiedMatching MONDO:0008147 osteogenesis imperfecta type 2 skos:exactMatch SCTID:86470003 semapv:UnspecifiedMatching MONDO:0008147 osteogenesis imperfecta type 2 skos:exactMatch UMLS:C0268358 semapv:UnspecifiedMatching MONDO:0008147 osteogenesis imperfecta type 2 skos:exactMatch mesh:C536042 semapv:UnspecifiedMatching MONDO:0008148 osteogenesis imperfecta type 4 skos:exactMatch DOID:0110340 osteogenesis imperfecta type 4 semapv:UnspecifiedMatching MONDO:0008148 osteogenesis imperfecta type 4 skos:exactMatch NCIT:C98576 Osteogenesis Imperfecta Type IV semapv:UnspecifiedMatching MONDO:0008148 osteogenesis imperfecta type 4 skos:exactMatch OMIM:166220 osteogenesis imperfecta, iia 4 semapv:UnspecifiedMatching MONDO:0008148 osteogenesis imperfecta type 4 skos:exactMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:UnspecifiedMatching MONDO:0008148 osteogenesis imperfecta type 4 skos:exactMatch SCTID:205497004 semapv:UnspecifiedMatching MONDO:0008148 osteogenesis imperfecta type 4 skos:exactMatch UMLS:C0268363 semapv:UnspecifiedMatching MONDO:0008148 osteogenesis imperfecta type 4 skos:exactMatch mesh:C536045 semapv:UnspecifiedMatching MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:exactMatch DOID:0110335 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures semapv:UnspecifiedMatching MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:exactMatch OMIM:166230 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures semapv:UnspecifiedMatching MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:exactMatch UMLS:C1833748 semapv:UnspecifiedMatching MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:exactMatch mesh:C563487 semapv:UnspecifiedMatching MONDO:0008150 osteoglophonic dwarfism skos:exactMatch DOID:0111532 osteoglophonic dysplasia semapv:UnspecifiedMatching MONDO:0008150 osteoglophonic dwarfism skos:exactMatch OMIM:166250 osteoglophonic dysplasia semapv:UnspecifiedMatching MONDO:0008150 osteoglophonic dwarfism skos:exactMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:UnspecifiedMatching MONDO:0008150 osteoglophonic dwarfism skos:exactMatch SCTID:254144002 semapv:UnspecifiedMatching MONDO:0008150 osteoglophonic dwarfism skos:exactMatch mesh:C536050 semapv:UnspecifiedMatching MONDO:0008151 gnathodiaphyseal dysplasia skos:exactMatch DOID:0111533 gnathodiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0008151 gnathodiaphyseal dysplasia skos:exactMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0008151 gnathodiaphyseal dysplasia skos:exactMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0008151 gnathodiaphyseal dysplasia skos:exactMatch SCTID:715568002 semapv:UnspecifiedMatching MONDO:0008151 gnathodiaphyseal dysplasia skos:exactMatch UMLS:C1833736 semapv:UnspecifiedMatching MONDO:0008151 gnathodiaphyseal dysplasia skos:exactMatch mesh:C536039 semapv:UnspecifiedMatching MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:exactMatch DOID:0111534 multicentric carpotarsal osteolysis syndrome semapv:UnspecifiedMatching MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:exactMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:UnspecifiedMatching MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:exactMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:UnspecifiedMatching MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:exactMatch SCTID:766992008 semapv:UnspecifiedMatching MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:exactMatch UMLS:C2674705 semapv:UnspecifiedMatching MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:exactMatch mesh:C567171 semapv:UnspecifiedMatching MONDO:0008153 progressive osseous heteroplasia skos:exactMatch DOID:0111535 progressive osseous heteroplasia semapv:UnspecifiedMatching MONDO:0008153 progressive osseous heteroplasia skos:exactMatch OMIM:166350 osseous heteroplasia, progressive semapv:UnspecifiedMatching MONDO:0008153 progressive osseous heteroplasia skos:exactMatch Orphanet:2762 Progressive osseous heteroplasia semapv:UnspecifiedMatching MONDO:0008153 progressive osseous heteroplasia skos:exactMatch SCTID:719271000 semapv:UnspecifiedMatching MONDO:0008153 progressive osseous heteroplasia skos:exactMatch UMLS:C0334041 semapv:UnspecifiedMatching MONDO:0008153 progressive osseous heteroplasia skos:exactMatch mesh:C562735 semapv:UnspecifiedMatching MONDO:0008154 osteomas of mandible skos:exactMatch OMIM:166400 osteomas of mandible semapv:UnspecifiedMatching MONDO:0008154 osteomas of mandible skos:exactMatch UMLS:C1833733 semapv:UnspecifiedMatching MONDO:0008154 osteomas of mandible skos:exactMatch mesh:C563485 semapv:UnspecifiedMatching MONDO:0008155 osteomesopyknosis skos:exactMatch OMIM:166450 osteomesopyknosis semapv:UnspecifiedMatching MONDO:0008155 osteomesopyknosis skos:exactMatch Orphanet:2777 Osteomesopyknosis semapv:UnspecifiedMatching MONDO:0008155 osteomesopyknosis skos:exactMatch SCTID:254125009 semapv:UnspecifiedMatching MONDO:0008155 osteomesopyknosis skos:exactMatch UMLS:C0432264 semapv:UnspecifiedMatching MONDO:0008155 osteomesopyknosis skos:exactMatch mesh:C537792 semapv:UnspecifiedMatching MONDO:0008156 autosomal dominant osteopetrosis 2 skos:exactMatch DOID:0110938 autosomal dominant osteopetrosis 2 semapv:UnspecifiedMatching MONDO:0008156 autosomal dominant osteopetrosis 2 skos:exactMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0008156 autosomal dominant osteopetrosis 2 skos:exactMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:UnspecifiedMatching MONDO:0008156 autosomal dominant osteopetrosis 2 skos:exactMatch SCTID:725050005 semapv:UnspecifiedMatching MONDO:0008156 autosomal dominant osteopetrosis 2 skos:exactMatch UMLS:C3179239 semapv:UnspecifiedMatching MONDO:0008157 Buschke-Ollendorff syndrome skos:exactMatch DOID:0111536 Buschke-Ollendorff syndrome semapv:UnspecifiedMatching MONDO:0008157 Buschke-Ollendorff syndrome skos:exactMatch OMIM:166700 buschke-ollendorff syndrome semapv:UnspecifiedMatching MONDO:0008157 Buschke-Ollendorff syndrome skos:exactMatch Orphanet:1306 NON RARE IN EUROPE: Buschke-Ollendorff syndrome semapv:UnspecifiedMatching MONDO:0008157 Buschke-Ollendorff syndrome skos:exactMatch mesh:C537415 semapv:UnspecifiedMatching MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:exactMatch OMIM:166705 osteopoikilosis and dacryocystitis semapv:UnspecifiedMatching MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:exactMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:UnspecifiedMatching MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:exactMatch SCTID:721082002 semapv:UnspecifiedMatching MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:exactMatch UMLS:C1833698 semapv:UnspecifiedMatching MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:exactMatch mesh:C536061 semapv:UnspecifiedMatching MONDO:0008159 postmenopausal osteoporosis skos:exactMatch SCTID:102447009 semapv:UnspecifiedMatching MONDO:0008159 postmenopausal osteoporosis skos:exactMatch UMLS:C0029458 semapv:UnspecifiedMatching MONDO:0008159 postmenopausal osteoporosis skos:exactMatch mesh:D015663 semapv:UnspecifiedMatching MONDO:0008160 osteosclerosis with ichthyosis and fractures skos:exactMatch OMIM:166740 osteosclerosis with ichthyosis and fractures semapv:UnspecifiedMatching MONDO:0008160 osteosclerosis with ichthyosis and fractures skos:exactMatch UMLS:C1833697 semapv:UnspecifiedMatching MONDO:0008160 osteosclerosis with ichthyosis and fractures skos:exactMatch mesh:C563483 semapv:UnspecifiedMatching MONDO:0008161 otodental syndrome skos:exactMatch OMIM:166750 otodental dysplasia semapv:UnspecifiedMatching MONDO:0008161 otodental syndrome skos:exactMatch Orphanet:2791 Otodental syndrome semapv:UnspecifiedMatching MONDO:0008161 otodental syndrome skos:exactMatch SCTID:707310009 semapv:UnspecifiedMatching MONDO:0008161 otodental syndrome skos:exactMatch UMLS:C1833693 semapv:UnspecifiedMatching MONDO:0008162 otitis media, susceptibility to skos:exactMatch OMIM:166760 otitis media, susceptibility to semapv:UnspecifiedMatching MONDO:0008163 otofaciocervical syndrome skos:exactMatch OMIMPS:166780 semapv:UnspecifiedMatching MONDO:0008163 otofaciocervical syndrome skos:exactMatch Orphanet:2792 Otofaciocervical syndrome semapv:UnspecifiedMatching MONDO:0008163 otofaciocervical syndrome skos:exactMatch UMLS:C1833691 semapv:UnspecifiedMatching MONDO:0008163 otofaciocervical syndrome skos:exactMatch mesh:C563481 semapv:UnspecifiedMatching MONDO:0008164 otosclerosis 1 skos:exactMatch OMIM:166800 otosclerosis 1 semapv:UnspecifiedMatching MONDO:0008164 otosclerosis 1 skos:exactMatch UMLS:C4551901 semapv:UnspecifiedMatching MONDO:0008165 southeast Asian ovalocytosis skos:exactMatch OMIM:166900 ovalocytosis, southeast asian semapv:UnspecifiedMatching MONDO:0008165 southeast Asian ovalocytosis skos:exactMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:UnspecifiedMatching MONDO:0008165 southeast Asian ovalocytosis skos:exactMatch SCTID:191169008 semapv:UnspecifiedMatching MONDO:0008165 southeast Asian ovalocytosis skos:exactMatch UMLS:C1862322 semapv:UnspecifiedMatching MONDO:0008166 ovalocytosis, hereditary hemolytic, with defective erythropoiesis skos:exactMatch OMIM:166910 ovalocytosis, hereditary hemolytic, with defective erythropoiesis semapv:UnspecifiedMatching MONDO:0008166 ovalocytosis, hereditary hemolytic, with defective erythropoiesis skos:exactMatch UMLS:C1833689 semapv:UnspecifiedMatching MONDO:0008166 ovalocytosis, hereditary hemolytic, with defective erythropoiesis skos:exactMatch mesh:C563479 semapv:UnspecifiedMatching MONDO:0008167 dermoid cyst of ovary skos:exactMatch DOID:5117 dermoid cyst of ovary semapv:UnspecifiedMatching MONDO:0008167 dermoid cyst of ovary skos:exactMatch NCIT:C3856 Ovarian Dermoid Cyst semapv:UnspecifiedMatching MONDO:0008167 dermoid cyst of ovary skos:exactMatch OMIM:166950 teratoma, ovarian semapv:UnspecifiedMatching MONDO:0008167 dermoid cyst of ovary skos:exactMatch UMLS:C0237020 semapv:UnspecifiedMatching MONDO:0008167 dermoid cyst of ovary skos:exactMatch mesh:C562731 semapv:UnspecifiedMatching MONDO:0008168 ovarian fibroma skos:exactMatch NCIT:C3498 Ovarian Fibroma semapv:UnspecifiedMatching MONDO:0008168 ovarian fibroma skos:exactMatch OMIM:166970 ovarian fibromata semapv:UnspecifiedMatching MONDO:0008168 ovarian fibroma skos:exactMatch Orphanet:314473 Ovarian fibroma semapv:UnspecifiedMatching MONDO:0008168 ovarian fibroma skos:exactMatch SCTID:254865006 semapv:UnspecifiedMatching MONDO:0008168 ovarian fibroma skos:exactMatch UMLS:C0149951 semapv:UnspecifiedMatching MONDO:0008168 ovarian fibroma skos:exactMatch mesh:C562391 semapv:UnspecifiedMatching MONDO:0008169 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension skos:exactMatch OMIM:166990 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension semapv:UnspecifiedMatching MONDO:0008169 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension skos:exactMatch UMLS:C1833688 semapv:UnspecifiedMatching MONDO:0008169 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension skos:exactMatch mesh:C563478 semapv:UnspecifiedMatching MONDO:0008170 ovarian cancer skos:exactMatch DOID:2394 ovarian cancer semapv:UnspecifiedMatching MONDO:0008170 ovarian cancer skos:exactMatch NCIT:C7431 Malignant Ovarian Neoplasm semapv:UnspecifiedMatching MONDO:0008170 ovarian cancer skos:exactMatch OMIM:167000 ovarian cancer semapv:UnspecifiedMatching MONDO:0008170 ovarian cancer skos:exactMatch Orphanet:213500 Ovarian cancer semapv:UnspecifiedMatching MONDO:0008170 ovarian cancer skos:exactMatch SCTID:363443007 semapv:UnspecifiedMatching MONDO:0008170 ovarian cancer skos:exactMatch mesh:D010051 semapv:UnspecifiedMatching MONDO:0008171 nephrolithiasis skos:exactMatch DOID:585 nephrolithiasis semapv:UnspecifiedMatching MONDO:0008171 nephrolithiasis skos:exactMatch NCIT:C114667 Nephrolithiasis semapv:UnspecifiedMatching MONDO:0008171 nephrolithiasis skos:exactMatch SCTID:266556005 semapv:UnspecifiedMatching MONDO:0008171 nephrolithiasis skos:exactMatch UMLS:C0392525 semapv:UnspecifiedMatching MONDO:0008171 nephrolithiasis skos:exactMatch mesh:D053040 semapv:UnspecifiedMatching MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:exactMatch OMIM:167100 hypertrophic osteoarthropathy, primary, autosomal dominant semapv:UnspecifiedMatching MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:exactMatch UMLS:C2674695 semapv:UnspecifiedMatching MONDO:0008173 pachyonychia congenita 1 skos:exactMatch OMIM:167200 pachyonychia congenita 1 semapv:UnspecifiedMatching MONDO:0008173 pachyonychia congenita 1 skos:exactMatch SCTID:39427000 semapv:UnspecifiedMatching MONDO:0008174 pachyonychia congenita 2 skos:exactMatch OMIM:167210 pachyonychia congenita 2 semapv:UnspecifiedMatching MONDO:0008175 pacman dysplasia skos:exactMatch OMIM:167220 pacman dysplasia semapv:UnspecifiedMatching MONDO:0008175 pacman dysplasia skos:exactMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:UnspecifiedMatching MONDO:0008175 pacman dysplasia skos:exactMatch SCTID:722127006 semapv:UnspecifiedMatching MONDO:0008175 pacman dysplasia skos:exactMatch UMLS:C1833676 semapv:UnspecifiedMatching MONDO:0008175 pacman dysplasia skos:exactMatch mesh:C538095 semapv:UnspecifiedMatching MONDO:0008176 Paget disease of bone 3 skos:exactMatch DOID:0081366 Paget's disease of bone 3 semapv:UnspecifiedMatching MONDO:0008176 Paget disease of bone 3 skos:exactMatch OMIM:167250 paget disease of bone 3 semapv:UnspecifiedMatching MONDO:0008176 Paget disease of bone 3 skos:exactMatch UMLS:C4085252 semapv:UnspecifiedMatching MONDO:0008177 extramammary Paget disease skos:exactMatch NCIT:C3302 Extramammary Paget Disease semapv:UnspecifiedMatching MONDO:0008177 extramammary Paget disease skos:exactMatch OMIM:167300 paget disease, extramammary semapv:UnspecifiedMatching MONDO:0008177 extramammary Paget disease skos:exactMatch Orphanet:2800 Extramammary Paget disease semapv:UnspecifiedMatching MONDO:0008177 extramammary Paget disease skos:exactMatch UMLS:C0030186 semapv:UnspecifiedMatching MONDO:0008177 extramammary Paget disease skos:exactMatch mesh:D010145 semapv:UnspecifiedMatching MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:exactMatch DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 semapv:UnspecifiedMatching MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:exactMatch NCIT:C122663 Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 semapv:UnspecifiedMatching MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:exactMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:UnspecifiedMatching MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:exactMatch mesh:C563476 semapv:UnspecifiedMatching MONDO:0008179 paroxysmal extreme pain disorder skos:exactMatch DOID:0111537 paroxysmal extreme pain disorder semapv:UnspecifiedMatching MONDO:0008179 paroxysmal extreme pain disorder skos:exactMatch NCIT:C125385 Paroxysmal Extreme Pain Disorder semapv:UnspecifiedMatching MONDO:0008179 paroxysmal extreme pain disorder skos:exactMatch OMIM:167400 paroxysmal extreme pain disorder semapv:UnspecifiedMatching MONDO:0008179 paroxysmal extreme pain disorder skos:exactMatch Orphanet:46348 Paroxysmal extreme pain disorder semapv:UnspecifiedMatching MONDO:0008179 paroxysmal extreme pain disorder skos:exactMatch SCTID:699190008 semapv:UnspecifiedMatching MONDO:0008179 paroxysmal extreme pain disorder skos:exactMatch UMLS:C1833661 semapv:UnspecifiedMatching MONDO:0008179 paroxysmal extreme pain disorder skos:exactMatch mesh:C563475 semapv:UnspecifiedMatching MONDO:0008180 congenital velopharyngeal incompetence skos:exactMatch OMIM:167500 palatopharyngeal incompetence semapv:UnspecifiedMatching MONDO:0008180 congenital velopharyngeal incompetence skos:exactMatch Orphanet:2291 Congenital velopharyngeal incompetence semapv:UnspecifiedMatching MONDO:0008180 congenital velopharyngeal incompetence skos:exactMatch UMLS:C0042454 semapv:UnspecifiedMatching MONDO:0008180 congenital velopharyngeal incompetence skos:exactMatch mesh:D014681 semapv:UnspecifiedMatching MONDO:0008181 palmaris longus muscle, absence of skos:exactMatch OMIM:167600 palmaris longus muscle, absence of semapv:UnspecifiedMatching MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:exactMatch OMIM:167730 nasopalpebral lipoma-coloboma syndrome semapv:UnspecifiedMatching MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:exactMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:UnspecifiedMatching MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:exactMatch SCTID:723411003 semapv:UnspecifiedMatching MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:exactMatch UMLS:C1868660 semapv:UnspecifiedMatching MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:exactMatch mesh:C538338 semapv:UnspecifiedMatching MONDO:0008183 annular pancreas skos:exactMatch DOID:0060850 annular pancreas semapv:UnspecifiedMatching MONDO:0008183 annular pancreas skos:exactMatch ICD10CM:Q45.1 Annular pancreas semapv:UnspecifiedMatching MONDO:0008183 annular pancreas skos:exactMatch NCIT:C98813 Annular Pancreas semapv:UnspecifiedMatching MONDO:0008183 annular pancreas skos:exactMatch OMIM:167750 pancreas, annular semapv:UnspecifiedMatching MONDO:0008183 annular pancreas skos:exactMatch Orphanet:675 Annular pancreas semapv:UnspecifiedMatching MONDO:0008183 annular pancreas skos:exactMatch SCTID:40315008 semapv:UnspecifiedMatching MONDO:0008183 annular pancreas skos:exactMatch UMLS:C0149955 semapv:UnspecifiedMatching MONDO:0008183 annular pancreas skos:exactMatch mesh:C536376 semapv:UnspecifiedMatching MONDO:0008184 pancreas, dorsal, agenesis of skos:exactMatch OMIM:167755 pancreas, dorsal, agenesis of semapv:UnspecifiedMatching MONDO:0008184 pancreas, dorsal, agenesis of skos:exactMatch UMLS:C1868659 semapv:UnspecifiedMatching MONDO:0008184 pancreas, dorsal, agenesis of skos:exactMatch mesh:C538109 semapv:UnspecifiedMatching MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch NCIT:C95436 Hereditary Pancreatitis semapv:UnspecifiedMatching MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch OMIM:167800 pancreatitis, hereditary semapv:UnspecifiedMatching MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch Orphanet:676 Hereditary chronic pancreatitis semapv:UnspecifiedMatching MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch SCTID:68072000 semapv:UnspecifiedMatching MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch mesh:C537262 semapv:UnspecifiedMatching MONDO:0008186 pancytopenia and occlusive vascular disease skos:exactMatch OMIM:167850 pancytopenia and occlusive vascular disease semapv:UnspecifiedMatching MONDO:0008186 pancytopenia and occlusive vascular disease skos:exactMatch UMLS:C1868652 semapv:UnspecifiedMatching MONDO:0008186 pancytopenia and occlusive vascular disease skos:exactMatch mesh:C566836 semapv:UnspecifiedMatching MONDO:0008187 panic disorder 1 skos:exactMatch OMIM:167870 panic disorder 1 semapv:UnspecifiedMatching MONDO:0008188 papillomatosis, confluent and reticulated skos:exactMatch OMIM:167900 papillomatosis, confluent and reticulated semapv:UnspecifiedMatching MONDO:0008188 papillomatosis, confluent and reticulated skos:exactMatch UMLS:C0263385 semapv:UnspecifiedMatching MONDO:0008188 papillomatosis, confluent and reticulated skos:exactMatch mesh:C566832 semapv:UnspecifiedMatching MONDO:0008189 papillomatosis, florid, of nipple skos:exactMatch OMIM:167950 papillomatosis, florid, of nipple semapv:UnspecifiedMatching MONDO:0008189 papillomatosis, florid, of nipple skos:exactMatch SCTID:237467005 semapv:UnspecifiedMatching MONDO:0008189 papillomatosis, florid, of nipple skos:exactMatch UMLS:C1868647 semapv:UnspecifiedMatching MONDO:0008189 papillomatosis, florid, of nipple skos:exactMatch mesh:C537167 semapv:UnspecifiedMatching MONDO:0008190 obsolete human papillomavirus type 18 integration site 1 skos:exactMatch OMIM:167959 human papillomavirus iia 18 integration site 1 semapv:UnspecifiedMatching MONDO:0008191 obsolete human papillomavirus type 18 integration site 2 skos:exactMatch OMIM:167960 human papillomavirus iia 18 integration site 2 semapv:UnspecifiedMatching MONDO:0008192 paragangliomas 1 skos:exactMatch OMIM:168000 pheochromocytoma/paraganglioma syndrome 1 semapv:UnspecifiedMatching MONDO:0008193 paralysis agitans, juvenile, of Hunt skos:exactMatch OMIM:168100 paralysis agitans, juvenile, of hunt semapv:UnspecifiedMatching MONDO:0008193 paralysis agitans, juvenile, of Hunt skos:exactMatch SCTID:43647007 semapv:UnspecifiedMatching MONDO:0008193 paralysis agitans, juvenile, of Hunt skos:exactMatch mesh:C562469 semapv:UnspecifiedMatching MONDO:0008194 Paramolar tubercle of bolk skos:exactMatch OMIM:168200 paramolar tubercle of bolk semapv:UnspecifiedMatching MONDO:0008194 Paramolar tubercle of bolk skos:exactMatch SCTID:78305006 semapv:UnspecifiedMatching MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch DOID:0111538 paramyotonia congenita of Von Eulenburg semapv:UnspecifiedMatching MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch NCIT:C122790 Paramyotonia Congenita semapv:UnspecifiedMatching MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch OMIM:168300 paramyotonia congenita semapv:UnspecifiedMatching MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:UnspecifiedMatching MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch SCTID:41574007 semapv:UnspecifiedMatching MONDO:0008196 parastremmatic dwarfism skos:exactMatch DOID:0111539 parastremmatic dwarfism semapv:UnspecifiedMatching MONDO:0008196 parastremmatic dwarfism skos:exactMatch OMIM:168400 parastremmatic dwarfism semapv:UnspecifiedMatching MONDO:0008196 parastremmatic dwarfism skos:exactMatch Orphanet:2646 Parastremmatic dwarfism semapv:UnspecifiedMatching MONDO:0008196 parastremmatic dwarfism skos:exactMatch SCTID:722210007 semapv:UnspecifiedMatching MONDO:0008196 parastremmatic dwarfism skos:exactMatch mesh:C537172 semapv:UnspecifiedMatching MONDO:0008197 parietal foramina 1 skos:exactMatch OMIM:168500 parietal foramina 1 semapv:UnspecifiedMatching MONDO:0008197 parietal foramina 1 skos:exactMatch mesh:C566827 semapv:UnspecifiedMatching MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:exactMatch OMIM:168550 parietal foramina with cleidocranial dysplasia semapv:UnspecifiedMatching MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:exactMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:UnspecifiedMatching MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:exactMatch UMLS:C1868597 semapv:UnspecifiedMatching MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:exactMatch mesh:C566825 semapv:UnspecifiedMatching MONDO:0008199 late-onset Parkinson disease skos:exactMatch DOID:0060892 late onset Parkinson's disease semapv:UnspecifiedMatching MONDO:0008199 late-onset Parkinson disease skos:exactMatch OMIM:168600 parkinson disease, late-onset semapv:UnspecifiedMatching MONDO:0008199 late-onset Parkinson disease skos:exactMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:UnspecifiedMatching MONDO:0008199 late-onset Parkinson disease skos:exactMatch SCTID:716662004 semapv:UnspecifiedMatching MONDO:0008199 late-onset Parkinson disease skos:exactMatch UMLS:C3160718 semapv:UnspecifiedMatching MONDO:0008200 autosomal dominant Parkinson disease 1 skos:exactMatch DOID:0060367 Parkinson's disease 1 semapv:UnspecifiedMatching MONDO:0008200 autosomal dominant Parkinson disease 1 skos:exactMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:UnspecifiedMatching MONDO:0008200 autosomal dominant Parkinson disease 1 skos:exactMatch mesh:C566823 semapv:UnspecifiedMatching MONDO:0008201 Perry syndrome skos:exactMatch DOID:0060486 Perry syndrome semapv:UnspecifiedMatching MONDO:0008201 Perry syndrome skos:exactMatch OMIM:168605 perry syndrome semapv:UnspecifiedMatching MONDO:0008201 Perry syndrome skos:exactMatch Orphanet:178509 Perry syndrome semapv:UnspecifiedMatching MONDO:0008201 Perry syndrome skos:exactMatch SCTID:699184009 semapv:UnspecifiedMatching MONDO:0008201 Perry syndrome skos:exactMatch UMLS:C1868594 semapv:UnspecifiedMatching MONDO:0008201 Perry syndrome skos:exactMatch mesh:C566822 semapv:UnspecifiedMatching MONDO:0008202 Parotidomegaly, hereditary bilateral skos:exactMatch OMIM:168800 parotidomegaly, hereditary bilateral semapv:UnspecifiedMatching MONDO:0008202 Parotidomegaly, hereditary bilateral skos:exactMatch UMLS:C1868590 semapv:UnspecifiedMatching MONDO:0008202 Parotidomegaly, hereditary bilateral skos:exactMatch mesh:C566821 semapv:UnspecifiedMatching MONDO:0008203 Passovoy factor defect skos:exactMatch OMIM:168830 passovoy factor defect semapv:UnspecifiedMatching MONDO:0008203 Passovoy factor defect skos:exactMatch UMLS:C3149707 semapv:UnspecifiedMatching MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis skos:exactMatch OMIM:168850 semapv:UnspecifiedMatching MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis skos:exactMatch mesh:C536307 semapv:UnspecifiedMatching MONDO:0008205 patella aplasia/hypoplasia skos:exactMatch OMIM:168860 patella aplasia-hypoplasia semapv:UnspecifiedMatching MONDO:0008205 patella aplasia/hypoplasia skos:exactMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:UnspecifiedMatching MONDO:0008205 patella aplasia/hypoplasia skos:exactMatch mesh:C535568 semapv:UnspecifiedMatching MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:exactMatch OMIM:168885 paroxysmal tonic upgaze, benign childhood, with ataxia semapv:UnspecifiedMatching MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:exactMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:UnspecifiedMatching MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:exactMatch SCTID:763127004 semapv:UnspecifiedMatching MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:exactMatch UMLS:C1868576 semapv:UnspecifiedMatching MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:exactMatch mesh:C566817 semapv:UnspecifiedMatching MONDO:0008207 chondromalacia patellae skos:exactMatch DOID:13357 chondromalacia patellae semapv:UnspecifiedMatching MONDO:0008207 chondromalacia patellae skos:exactMatch ICD10CM:M22.4 Chondromalacia patellae semapv:UnspecifiedMatching MONDO:0008207 chondromalacia patellae skos:exactMatch OMIM:168900 patella, chondromalacia of semapv:UnspecifiedMatching MONDO:0008207 chondromalacia patellae skos:exactMatch SCTID:36071006 semapv:UnspecifiedMatching MONDO:0008207 chondromalacia patellae skos:exactMatch UMLS:C0008475 semapv:UnspecifiedMatching MONDO:0008207 chondromalacia patellae skos:exactMatch mesh:D046789 semapv:UnspecifiedMatching MONDO:0008208 patella, familial recurrent dislocation of skos:exactMatch OMIM:169000 patella, familial recurrent dislocation of semapv:UnspecifiedMatching MONDO:0008208 patella, familial recurrent dislocation of skos:exactMatch UMLS:C1868575 semapv:UnspecifiedMatching MONDO:0008208 patella, familial recurrent dislocation of skos:exactMatch mesh:C566816 semapv:UnspecifiedMatching MONDO:0008209 Char syndrome skos:exactMatch DOID:0060563 Char syndrome semapv:UnspecifiedMatching MONDO:0008209 Char syndrome skos:exactMatch OMIM:169100 char syndrome semapv:UnspecifiedMatching MONDO:0008209 Char syndrome skos:exactMatch Orphanet:46627 Char syndrome semapv:UnspecifiedMatching MONDO:0008209 Char syndrome skos:exactMatch SCTID:703534001 semapv:UnspecifiedMatching MONDO:0008209 Char syndrome skos:exactMatch UMLS:C1868570 semapv:UnspecifiedMatching MONDO:0008209 Char syndrome skos:exactMatch mesh:C566815 semapv:UnspecifiedMatching MONDO:0008210 patterned macular dystrophy 1 skos:exactMatch DOID:0060866 patterned macular dystrophy 1 semapv:UnspecifiedMatching MONDO:0008210 patterned macular dystrophy 1 skos:exactMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:UnspecifiedMatching MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:exactMatch OMIM:169170 patterson pseudoleprechaunism syndrome semapv:UnspecifiedMatching MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:exactMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:UnspecifiedMatching MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:exactMatch UMLS:C1868546 semapv:UnspecifiedMatching MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:exactMatch mesh:C536310 semapv:UnspecifiedMatching MONDO:0008212 Pechet factor deficiency skos:exactMatch OMIM:169200 pechet factor deficiency semapv:UnspecifiedMatching MONDO:0008212 Pechet factor deficiency skos:exactMatch UMLS:C1868545 semapv:UnspecifiedMatching MONDO:0008212 Pechet factor deficiency skos:exactMatch mesh:C566814 semapv:UnspecifiedMatching MONDO:0008213 pectus excavatum skos:exactMatch OMIM:169300 pectus excavatum semapv:UnspecifiedMatching MONDO:0008213 pectus excavatum skos:exactMatch SCTID:391987005 semapv:UnspecifiedMatching MONDO:0008213 pectus excavatum skos:exactMatch mesh:D005660 semapv:UnspecifiedMatching MONDO:0008214 Pelger-Huet anomaly skos:exactMatch DOID:9631 Pelger-Huet anomaly semapv:UnspecifiedMatching MONDO:0008214 Pelger-Huet anomaly skos:exactMatch NCIT:C85002 Pelger-Huet Anomaly semapv:UnspecifiedMatching MONDO:0008214 Pelger-Huet anomaly skos:exactMatch OMIM:169400 pelger-huet anomaly semapv:UnspecifiedMatching MONDO:0008214 Pelger-Huet anomaly skos:exactMatch SCTID:85559002 semapv:UnspecifiedMatching MONDO:0008214 Pelger-Huet anomaly skos:exactMatch UMLS:C0030779 semapv:UnspecifiedMatching MONDO:0008214 Pelger-Huet anomaly skos:exactMatch mesh:D010381 semapv:UnspecifiedMatching MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:exactMatch DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy semapv:UnspecifiedMatching MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:exactMatch OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant semapv:UnspecifiedMatching MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:exactMatch Orphanet:99027 Adult-onset autosomal dominant leukodystrophy semapv:UnspecifiedMatching MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:exactMatch SCTID:448054001 semapv:UnspecifiedMatching MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:exactMatch mesh:C566813 semapv:UnspecifiedMatching MONDO:0008216 pelvic lipomatosis with crossed renal ectopia skos:exactMatch OMIM:169545 pelvic lipomatosis with crossed renal ectopia semapv:UnspecifiedMatching MONDO:0008216 pelvic lipomatosis with crossed renal ectopia skos:exactMatch UMLS:C1868511 semapv:UnspecifiedMatching MONDO:0008216 pelvic lipomatosis with crossed renal ectopia skos:exactMatch mesh:C566812 semapv:UnspecifiedMatching MONDO:0008217 pelvis-shoulder dysplasia skos:exactMatch OMIM:169550 pelvis-shoulder dysplasia semapv:UnspecifiedMatching MONDO:0008217 pelvis-shoulder dysplasia skos:exactMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:UnspecifiedMatching MONDO:0008217 pelvis-shoulder dysplasia skos:exactMatch SCTID:719298001 semapv:UnspecifiedMatching MONDO:0008217 pelvis-shoulder dysplasia skos:exactMatch UMLS:C1868508 semapv:UnspecifiedMatching MONDO:0008217 pelvis-shoulder dysplasia skos:exactMatch mesh:C566811 semapv:UnspecifiedMatching MONDO:0008218 Hailey-Hailey disease skos:exactMatch DOID:0050429 Hailey-Hailey disease semapv:UnspecifiedMatching MONDO:0008218 Hailey-Hailey disease skos:exactMatch NCIT:C82865 Familial Benign Pemphigus semapv:UnspecifiedMatching MONDO:0008218 Hailey-Hailey disease skos:exactMatch OMIM:169600 benign chronic pemphigus semapv:UnspecifiedMatching MONDO:0008218 Hailey-Hailey disease skos:exactMatch Orphanet:2841 Familial benign chronic pemphigus semapv:UnspecifiedMatching MONDO:0008218 Hailey-Hailey disease skos:exactMatch SCTID:79468000 semapv:UnspecifiedMatching MONDO:0008218 Hailey-Hailey disease skos:exactMatch UMLS:C0085106 semapv:UnspecifiedMatching MONDO:0008218 Hailey-Hailey disease skos:exactMatch mesh:D016506 semapv:UnspecifiedMatching MONDO:0008219 pemphigus vulgaris skos:exactMatch DOID:0060851 pemphigus vulgaris semapv:UnspecifiedMatching MONDO:0008219 pemphigus vulgaris skos:exactMatch ICD10CM:L10.0 Pemphigus vulgaris semapv:UnspecifiedMatching MONDO:0008219 pemphigus vulgaris skos:exactMatch NCIT:C34910 Pemphigus Vulgaris semapv:UnspecifiedMatching MONDO:0008219 pemphigus vulgaris skos:exactMatch OMIM:169610 pemphigus vulgaris, familial semapv:UnspecifiedMatching MONDO:0008219 pemphigus vulgaris skos:exactMatch Orphanet:704 Pemphigus vulgaris semapv:UnspecifiedMatching MONDO:0008219 pemphigus vulgaris skos:exactMatch SCTID:49420001 semapv:UnspecifiedMatching MONDO:0008219 pemphigus vulgaris skos:exactMatch UMLS:C0030809 semapv:UnspecifiedMatching MONDO:0008219 pemphigus vulgaris skos:exactMatch mesh:C536645 semapv:UnspecifiedMatching MONDO:0008220 obsolete pepsinogen 3, group 1 skos:exactMatch OMIM:169710 pepsinogen 3, group 1 semapv:UnspecifiedMatching MONDO:0008221 prolidase deficiency skos:exactMatch DOID:0111540 prolidase deficiency semapv:UnspecifiedMatching MONDO:0008221 prolidase deficiency skos:exactMatch NCIT:C85029 Prolidase Deficiency semapv:UnspecifiedMatching MONDO:0008221 prolidase deficiency skos:exactMatch OMIM:170100 prolidase deficiency semapv:UnspecifiedMatching MONDO:0008221 prolidase deficiency skos:exactMatch Orphanet:742 Prolidase deficiency semapv:UnspecifiedMatching MONDO:0008221 prolidase deficiency skos:exactMatch SCTID:410055005 semapv:UnspecifiedMatching MONDO:0008221 prolidase deficiency skos:exactMatch UMLS:C0268532 semapv:UnspecifiedMatching MONDO:0008221 prolidase deficiency skos:exactMatch mesh:D056732 semapv:UnspecifiedMatching MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch DOID:0050434 Andersen-Tawil syndrome semapv:UnspecifiedMatching MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch NCIT:C84559 Long QT Syndrome 7 semapv:UnspecifiedMatching MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch OMIM:170390 andersen cardiodysrhythmic periodic paralysis semapv:UnspecifiedMatching MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch Orphanet:37553 Andersen-Tawil syndrome semapv:UnspecifiedMatching MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch SCTID:422348008 semapv:UnspecifiedMatching MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch UMLS:C1563715 semapv:UnspecifiedMatching MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch mesh:D050030 semapv:UnspecifiedMatching MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch DOID:14452 hypokalemic periodic paralysis semapv:UnspecifiedMatching MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch NCIT:C84775 Hypokalemic Periodic Paralysis semapv:UnspecifiedMatching MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch Orphanet:681 Hypokalemic periodic paralysis semapv:UnspecifiedMatching MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch SCTID:82732003 semapv:UnspecifiedMatching MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch UMLS:C0238358 semapv:UnspecifiedMatching MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch mesh:D020514 semapv:UnspecifiedMatching MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch DOID:14451 hyperkalemic periodic paralysis semapv:UnspecifiedMatching MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch NCIT:C123429 Hyperkalemic Periodic Paralysis semapv:UnspecifiedMatching MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch OMIM:170500 hyperkalemic periodic paralysis semapv:UnspecifiedMatching MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:UnspecifiedMatching MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch SCTID:304737009 semapv:UnspecifiedMatching MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch UMLS:C0238357 semapv:UnspecifiedMatching MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch mesh:D020513 semapv:UnspecifiedMatching MONDO:0008225 normokalemic periodic paralysis skos:exactMatch NCIT:C122791 Normokalemic Periodic Paralysis semapv:UnspecifiedMatching MONDO:0008225 normokalemic periodic paralysis skos:exactMatch OMIM:170600 normokalemic periodic paralysis semapv:UnspecifiedMatching MONDO:0008225 normokalemic periodic paralysis skos:exactMatch SCTID:40381009 semapv:UnspecifiedMatching MONDO:0008225 normokalemic periodic paralysis skos:exactMatch UMLS:C0268445 semapv:UnspecifiedMatching MONDO:0008226 periodontitis, aggressive 1 skos:exactMatch DOID:1474 aggressive periodontitis semapv:UnspecifiedMatching MONDO:0008226 periodontitis, aggressive 1 skos:exactMatch OMIM:170650 periodontitis, aggressive, 1 semapv:UnspecifiedMatching MONDO:0008226 periodontitis, aggressive 1 skos:exactMatch UMLS:C4551681 semapv:UnspecifiedMatching MONDO:0008226 periodontitis, aggressive 1 skos:exactMatch mesh:D010520 semapv:UnspecifiedMatching MONDO:0008227 peripheral dysostosis skos:exactMatch OMIM:170700 peripheral dysostosis semapv:UnspecifiedMatching MONDO:0008227 peripheral dysostosis skos:exactMatch Orphanet:1795 OBSOLETE: Peripheral dysostosis semapv:UnspecifiedMatching MONDO:0008227 peripheral dysostosis skos:exactMatch UMLS:C4721502 semapv:UnspecifiedMatching MONDO:0008228 pernicious anemia skos:exactMatch DOID:13381 pernicious anemia semapv:UnspecifiedMatching MONDO:0008228 pernicious anemia skos:exactMatch NCIT:C2871 Pernicious Anemia semapv:UnspecifiedMatching MONDO:0008228 pernicious anemia skos:exactMatch OMIM:170900 pernicious anemia semapv:UnspecifiedMatching MONDO:0008228 pernicious anemia skos:exactMatch SCTID:84027009 semapv:UnspecifiedMatching MONDO:0008228 pernicious anemia skos:exactMatch UMLS:C0002892 semapv:UnspecifiedMatching MONDO:0008228 pernicious anemia skos:exactMatch mesh:D000752 semapv:UnspecifiedMatching MONDO:0008229 peroneal nerve, accessory deep skos:exactMatch OMIM:170980 peroneal nerve, accessory deep semapv:UnspecifiedMatching MONDO:0008229 peroneal nerve, accessory deep skos:exactMatch UMLS:C1868426 semapv:UnspecifiedMatching MONDO:0008229 peroneal nerve, accessory deep skos:exactMatch mesh:C536001 semapv:UnspecifiedMatching MONDO:0008230 peroxidase, salivary skos:exactMatch OMIM:170990 peroxidase, salivary semapv:UnspecifiedMatching MONDO:0008231 Peyronie disease skos:exactMatch DOID:8616 Peyronie's disease semapv:UnspecifiedMatching MONDO:0008231 Peyronie disease skos:exactMatch OMIM:171000 peyronie disease semapv:UnspecifiedMatching MONDO:0008231 Peyronie disease skos:exactMatch UMLS:C0030848 semapv:UnspecifiedMatching MONDO:0008232 phagocytosis, plasma-related defect 1N skos:exactMatch OMIM:171100 phagocytosis, plasma-related defect 1n semapv:UnspecifiedMatching MONDO:0008232 phagocytosis, plasma-related defect 1N skos:exactMatch UMLS:C1868402 semapv:UnspecifiedMatching MONDO:0008232 phagocytosis, plasma-related defect 1N skos:exactMatch mesh:C566808 semapv:UnspecifiedMatching MONDO:0008233 pheochromocytoma skos:exactMatch DOID:0050771 pheochromocytoma semapv:UnspecifiedMatching MONDO:0008233 pheochromocytoma skos:exactMatch OMIM:171300 pheochromocytoma semapv:UnspecifiedMatching MONDO:0008233 pheochromocytoma skos:exactMatch mesh:D010673 semapv:UnspecifiedMatching MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch DOID:0050430 multiple endocrine neoplasia type 2A semapv:UnspecifiedMatching MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch NCIT:C3226 Multiple Endocrine Neoplasia Type 2A semapv:UnspecifiedMatching MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch OMIM:171400 multiple endocrine neoplasia, iia 2a semapv:UnspecifiedMatching MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:UnspecifiedMatching MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch SCTID:721188000 semapv:UnspecifiedMatching MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch UMLS:C0025268 semapv:UnspecifiedMatching MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch mesh:D018813 semapv:UnspecifiedMatching MONDO:0008235 pheochromocytoma-islet cell tumor syndrome skos:exactMatch OMIM:171420 pheochromocytoma--islet cell tumor syndrome semapv:UnspecifiedMatching MONDO:0008235 pheochromocytoma-islet cell tumor syndrome skos:exactMatch UMLS:C1868392 semapv:UnspecifiedMatching MONDO:0008235 pheochromocytoma-islet cell tumor syndrome skos:exactMatch mesh:C566807 semapv:UnspecifiedMatching MONDO:0008236 phlebectasia of lips skos:exactMatch OMIM:171450 phlebectasia of lips semapv:UnspecifiedMatching MONDO:0008236 phlebectasia of lips skos:exactMatch UMLS:C1868391 semapv:UnspecifiedMatching MONDO:0008236 phlebectasia of lips skos:exactMatch mesh:C566806 semapv:UnspecifiedMatching MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:exactMatch OMIM:171480 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia semapv:UnspecifiedMatching MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:exactMatch Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome semapv:UnspecifiedMatching MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:exactMatch UMLS:C1868390 semapv:UnspecifiedMatching MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:exactMatch mesh:C537498 semapv:UnspecifiedMatching MONDO:0008238 phosphatase, acid, of tissues skos:exactMatch OMIM:171660 phosphatase, acid, of tissues semapv:UnspecifiedMatching MONDO:0008239 phosphoglucomutase 4 skos:exactMatch OMIM:172110 phosphoglucomutase 4 semapv:UnspecifiedMatching MONDO:0008240 6-phosphogluconolactonase deficiency skos:exactMatch OMIM:172150 6-phosphogluconolactonase deficiency semapv:UnspecifiedMatching MONDO:0008240 6-phosphogluconolactonase deficiency skos:exactMatch UMLS:C1868355 semapv:UnspecifiedMatching MONDO:0008240 6-phosphogluconolactonase deficiency skos:exactMatch mesh:C566803 semapv:UnspecifiedMatching MONDO:0008241 phosphoglycoprotein 1 skos:exactMatch OMIM:172290 phosphoglycoprotein 1 semapv:UnspecifiedMatching MONDO:0008242 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction skos:exactMatch OMIM:172500 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction semapv:UnspecifiedMatching MONDO:0008242 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction skos:exactMatch SCTID:237612000 semapv:UnspecifiedMatching MONDO:0008242 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction skos:exactMatch UMLS:C1809475 semapv:UnspecifiedMatching MONDO:0008242 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction skos:exactMatch mesh:C538113 semapv:UnspecifiedMatching MONDO:0008243 Pick disease skos:exactMatch DOID:11870 Pick's disease semapv:UnspecifiedMatching MONDO:0008243 Pick disease skos:exactMatch ICD10CM:G31.01 Pick's disease semapv:UnspecifiedMatching MONDO:0008243 Pick disease skos:exactMatch NCIT:C85008 Pick's Disease semapv:UnspecifiedMatching MONDO:0008243 Pick disease skos:exactMatch OMIM:172700 pick disease of brain semapv:UnspecifiedMatching MONDO:0008243 Pick disease skos:exactMatch SCTID:13092008 semapv:UnspecifiedMatching MONDO:0008243 Pick disease skos:exactMatch UMLS:C0236642 semapv:UnspecifiedMatching MONDO:0008243 Pick disease skos:exactMatch mesh:D020774 semapv:UnspecifiedMatching MONDO:0008244 piebaldism skos:exactMatch DOID:3263 piebaldism semapv:UnspecifiedMatching MONDO:0008244 piebaldism skos:exactMatch NCIT:C85009 Piebaldism semapv:UnspecifiedMatching MONDO:0008244 piebaldism skos:exactMatch OMIM:172800 piebald trait semapv:UnspecifiedMatching MONDO:0008244 piebaldism skos:exactMatch Orphanet:2884 Piebaldism semapv:UnspecifiedMatching MONDO:0008244 piebaldism skos:exactMatch SCTID:6479008 semapv:UnspecifiedMatching MONDO:0008244 piebaldism skos:exactMatch UMLS:C0080024 semapv:UnspecifiedMatching MONDO:0008244 piebaldism skos:exactMatch mesh:D016116 semapv:UnspecifiedMatching MONDO:0008245 piebald trait-neurologic defects syndrome skos:exactMatch OMIM:172850 piebald trait with neurologic defects semapv:UnspecifiedMatching MONDO:0008245 piebald trait-neurologic defects syndrome skos:exactMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:UnspecifiedMatching MONDO:0008245 piebald trait-neurologic defects syndrome skos:exactMatch UMLS:C1868311 semapv:UnspecifiedMatching MONDO:0008245 piebald trait-neurologic defects syndrome skos:exactMatch mesh:C536955 semapv:UnspecifiedMatching MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:exactMatch DOID:0111541 pigmented paravenous chorioretinal atrophy semapv:UnspecifiedMatching MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:exactMatch OMIM:172870 pigmented paravenous chorioretinal atrophy semapv:UnspecifiedMatching MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:exactMatch Orphanet:251295 Pigmented paravenous retinochoroidal atrophy semapv:UnspecifiedMatching MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:exactMatch SCTID:723450004 semapv:UnspecifiedMatching MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:exactMatch UMLS:C1868310 semapv:UnspecifiedMatching MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:exactMatch mesh:C566801 semapv:UnspecifiedMatching MONDO:0008247 Robin sequence-oligodactyly syndrome skos:exactMatch OMIM:172880 pierre robin syndrome and oligodactyly semapv:UnspecifiedMatching MONDO:0008247 Robin sequence-oligodactyly syndrome skos:exactMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:UnspecifiedMatching MONDO:0008247 Robin sequence-oligodactyly syndrome skos:exactMatch UMLS:C1868309 semapv:UnspecifiedMatching MONDO:0008247 Robin sequence-oligodactyly syndrome skos:exactMatch mesh:C535688 semapv:UnspecifiedMatching MONDO:0008248 pigmented purpuric eruption skos:exactMatch OMIM:172900 pigmented purpuric eruption semapv:UnspecifiedMatching MONDO:0008248 pigmented purpuric eruption skos:exactMatch SCTID:20343006 semapv:UnspecifiedMatching MONDO:0008248 pigmented purpuric eruption skos:exactMatch UMLS:C0406515 semapv:UnspecifiedMatching MONDO:0008248 pigmented purpuric eruption skos:exactMatch mesh:C537186 semapv:UnspecifiedMatching MONDO:0008249 pilonidal sinus skos:exactMatch OMIM:173000 pilonidal sinus semapv:UnspecifiedMatching MONDO:0008249 pilonidal sinus skos:exactMatch SCTID:47639008 semapv:UnspecifiedMatching MONDO:0008249 pilonidal sinus skos:exactMatch mesh:D010864 semapv:UnspecifiedMatching MONDO:0008250 isolated growth hormone deficiency type II skos:exactMatch DOID:0060872 isolated growth hormone deficiency type II semapv:UnspecifiedMatching MONDO:0008250 isolated growth hormone deficiency type II skos:exactMatch OMIM:173100 isolated growth hormone deficiency, iia 2 semapv:UnspecifiedMatching MONDO:0008250 isolated growth hormone deficiency type II skos:exactMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:UnspecifiedMatching MONDO:0008250 isolated growth hormone deficiency type II skos:exactMatch SCTID:237687003 semapv:UnspecifiedMatching MONDO:0008250 isolated growth hormone deficiency type II skos:exactMatch UMLS:C0271567 semapv:UnspecifiedMatching MONDO:0008250 isolated growth hormone deficiency type II skos:exactMatch mesh:C562704 semapv:UnspecifiedMatching MONDO:0008251 familial pityriasis rubra pilaris skos:exactMatch OMIM:173200 pityriasis rubra pilaris semapv:UnspecifiedMatching MONDO:0008251 familial pityriasis rubra pilaris skos:exactMatch Orphanet:2897 Pityriasis rubra pilaris semapv:UnspecifiedMatching MONDO:0008251 familial pityriasis rubra pilaris skos:exactMatch UMLS:C2930842 semapv:UnspecifiedMatching MONDO:0008251 familial pityriasis rubra pilaris skos:exactMatch mesh:C531784 semapv:UnspecifiedMatching MONDO:0008252 platelet adenylate cyclase activity skos:exactMatch OMIM:173395 platelet adenylate cyclase activity semapv:UnspecifiedMatching MONDO:0008253 platelet aggregation, spontaneous skos:exactMatch OMIM:173400 platelet aggregation, spontaneous semapv:UnspecifiedMatching MONDO:0008253 platelet aggregation, spontaneous skos:exactMatch UMLS:C1868263 semapv:UnspecifiedMatching MONDO:0008253 platelet aggregation, spontaneous skos:exactMatch mesh:C566800 semapv:UnspecifiedMatching MONDO:0008254 platelet disorder, undefined skos:exactMatch OMIM:173420 platelet disorder, undefined semapv:UnspecifiedMatching MONDO:0008254 platelet disorder, undefined skos:exactMatch UMLS:C1868258 semapv:UnspecifiedMatching MONDO:0008254 platelet disorder, undefined skos:exactMatch mesh:C566799 semapv:UnspecifiedMatching MONDO:0008255 platelet factor 3 deficiency skos:exactMatch OMIM:173450 platelet factor 3 deficiency semapv:UnspecifiedMatching MONDO:0008255 platelet factor 3 deficiency skos:exactMatch UMLS:C1868256 semapv:UnspecifiedMatching MONDO:0008255 platelet factor 3 deficiency skos:exactMatch mesh:C566798 semapv:UnspecifiedMatching MONDO:0008256 platelet membrane fluidity skos:exactMatch OMIM:173560 platelet membrane fluidity semapv:UnspecifiedMatching MONDO:0008257 platelet responsiveness to adrenaline, depressed skos:exactMatch OMIM:173580 platelet responsiveness to adrenaline, depressed semapv:UnspecifiedMatching MONDO:0008258 platelet signal processing defect skos:exactMatch OMIM:173590 platelet signal processing defect semapv:UnspecifiedMatching MONDO:0008258 platelet signal processing defect skos:exactMatch UMLS:C1868199 semapv:UnspecifiedMatching MONDO:0008258 platelet signal processing defect skos:exactMatch mesh:C566796 semapv:UnspecifiedMatching MONDO:0008259 familial spontaneous pneumothorax skos:exactMatch DOID:0080218 primary spontaneous pneumothorax semapv:UnspecifiedMatching MONDO:0008259 familial spontaneous pneumothorax skos:exactMatch OMIM:173600 pneumothorax, primary spontaneous semapv:UnspecifiedMatching MONDO:0008259 familial spontaneous pneumothorax skos:exactMatch Orphanet:2903 Familial spontaneous pneumothorax semapv:UnspecifiedMatching MONDO:0008259 familial spontaneous pneumothorax skos:exactMatch SCTID:715219001 semapv:UnspecifiedMatching MONDO:0008259 familial spontaneous pneumothorax skos:exactMatch UMLS:C1868193 semapv:UnspecifiedMatching MONDO:0008259 familial spontaneous pneumothorax skos:exactMatch mesh:C566795 semapv:UnspecifiedMatching MONDO:0008260 Kindler syndrome skos:exactMatch DOID:0060472 Kindler syndrome semapv:UnspecifiedMatching MONDO:0008260 Kindler syndrome skos:exactMatch OMIM:173650 kindler syndrome semapv:UnspecifiedMatching MONDO:0008260 Kindler syndrome skos:exactMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0008260 Kindler syndrome skos:exactMatch SCTID:238836000 semapv:UnspecifiedMatching MONDO:0008260 Kindler syndrome skos:exactMatch mesh:C536321 semapv:UnspecifiedMatching MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:exactMatch OMIM:173700 poikiloderma, hereditary sclerosing semapv:UnspecifiedMatching MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:exactMatch Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type semapv:UnspecifiedMatching MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:exactMatch mesh:C562824 semapv:UnspecifiedMatching MONDO:0008262 Poland syndrome skos:exactMatch DOID:12961 Poland syndrome semapv:UnspecifiedMatching MONDO:0008262 Poland syndrome skos:exactMatch NCIT:C85017 Poland Syndrome semapv:UnspecifiedMatching MONDO:0008262 Poland syndrome skos:exactMatch OMIM:173800 poland syndrome semapv:UnspecifiedMatching MONDO:0008262 Poland syndrome skos:exactMatch Orphanet:2911 Poland syndrome semapv:UnspecifiedMatching MONDO:0008262 Poland syndrome skos:exactMatch SCTID:38371006 semapv:UnspecifiedMatching MONDO:0008262 Poland syndrome skos:exactMatch UMLS:C0032357 semapv:UnspecifiedMatching MONDO:0008262 Poland syndrome skos:exactMatch mesh:D011045 semapv:UnspecifiedMatching MONDO:0008263 polycystic kidney disease 1 skos:exactMatch DOID:0110858 polycystic kidney disease 1 semapv:UnspecifiedMatching MONDO:0008263 polycystic kidney disease 1 skos:exactMatch OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease semapv:UnspecifiedMatching MONDO:0008263 polycystic kidney disease 1 skos:exactMatch SCTID:253878003 semapv:UnspecifiedMatching MONDO:0008263 polycystic kidney disease 1 skos:exactMatch UMLS:C3149841 semapv:UnspecifiedMatching MONDO:0008263 polycystic kidney disease 1 skos:exactMatch mesh:C536326 semapv:UnspecifiedMatching MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:exactMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:UnspecifiedMatching MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:exactMatch SCTID:444699000 semapv:UnspecifiedMatching MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:exactMatch UMLS:C4511620 semapv:UnspecifiedMatching MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:exactMatch mesh:C536137 semapv:UnspecifiedMatching MONDO:0008265 polycystic liver disease 1 skos:exactMatch OMIM:174050 polycystic liver disease 1 with or without kidney cysts semapv:UnspecifiedMatching MONDO:0008265 polycystic liver disease 1 skos:exactMatch SCTID:716196007 semapv:UnspecifiedMatching MONDO:0008266 polydactyly, postaxial, type A1 skos:exactMatch OMIM:174200 polydactyly, postaxial, iia a1 semapv:UnspecifiedMatching MONDO:0008267 orofaciodigital syndrome V skos:exactMatch DOID:0060375 orofaciodigital syndrome V semapv:UnspecifiedMatching MONDO:0008267 orofaciodigital syndrome V skos:exactMatch OMIM:174300 orofaciodigital syndrome 5 semapv:UnspecifiedMatching MONDO:0008267 orofaciodigital syndrome V skos:exactMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:UnspecifiedMatching MONDO:0008267 orofaciodigital syndrome V skos:exactMatch SCTID:722105002 semapv:UnspecifiedMatching MONDO:0008267 orofaciodigital syndrome V skos:exactMatch UMLS:C1868118 semapv:UnspecifiedMatching MONDO:0008267 orofaciodigital syndrome V skos:exactMatch mesh:C557819 semapv:UnspecifiedMatching MONDO:0008268 polydactyly-myopia syndrome skos:exactMatch OMIM:174310 polydactyly, postaxial, with progressive myopia semapv:UnspecifiedMatching MONDO:0008268 polydactyly-myopia syndrome skos:exactMatch Orphanet:2917 Polydactyly-myopia syndrome semapv:UnspecifiedMatching MONDO:0008268 polydactyly-myopia syndrome skos:exactMatch SCTID:82639001 semapv:UnspecifiedMatching MONDO:0008268 polydactyly-myopia syndrome skos:exactMatch mesh:C536331 semapv:UnspecifiedMatching MONDO:0008269 polydactyly of a biphalangeal thumb skos:exactMatch OMIM:174400 polydactyly, preaxial 1 semapv:UnspecifiedMatching MONDO:0008269 polydactyly of a biphalangeal thumb skos:exactMatch Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux semapv:UnspecifiedMatching MONDO:0008269 polydactyly of a biphalangeal thumb skos:exactMatch SCTID:445216006 semapv:UnspecifiedMatching MONDO:0008269 polydactyly of a biphalangeal thumb skos:exactMatch mesh:C536332 semapv:UnspecifiedMatching MONDO:0008270 polydactyly of a triphalangeal thumb skos:exactMatch OMIM:174500 polydactyly, preaxial 2 semapv:UnspecifiedMatching MONDO:0008270 polydactyly of a triphalangeal thumb skos:exactMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:UnspecifiedMatching MONDO:0008270 polydactyly of a triphalangeal thumb skos:exactMatch SCTID:715710001 semapv:UnspecifiedMatching MONDO:0008270 polydactyly of a triphalangeal thumb skos:exactMatch UMLS:C1868114 semapv:UnspecifiedMatching MONDO:0008271 polydactyly of an index finger skos:exactMatch OMIM:174600 polydactyly, preaxial 3 semapv:UnspecifiedMatching MONDO:0008271 polydactyly of an index finger skos:exactMatch Orphanet:93337 Polydactyly of an index finger semapv:UnspecifiedMatching MONDO:0008271 polydactyly of an index finger skos:exactMatch SCTID:723446006 semapv:UnspecifiedMatching MONDO:0008271 polydactyly of an index finger skos:exactMatch UMLS:C1868113 semapv:UnspecifiedMatching MONDO:0008271 polydactyly of an index finger skos:exactMatch mesh:C566784 semapv:UnspecifiedMatching MONDO:0008272 polysyndactyly 4 skos:exactMatch OMIM:174700 polydactyly, preaxial 4 semapv:UnspecifiedMatching MONDO:0008272 polysyndactyly 4 skos:exactMatch Orphanet:93338 Polysyndactyly semapv:UnspecifiedMatching MONDO:0008272 polysyndactyly 4 skos:exactMatch UMLS:C1868111 semapv:UnspecifiedMatching MONDO:0008273 actinic prurigo skos:exactMatch OMIM:174770 actinic prurigo semapv:UnspecifiedMatching MONDO:0008273 actinic prurigo skos:exactMatch Orphanet:330061 Actinic prurigo semapv:UnspecifiedMatching MONDO:0008273 actinic prurigo skos:exactMatch SCTID:201015007 semapv:UnspecifiedMatching MONDO:0008273 actinic prurigo skos:exactMatch UMLS:C0406217 semapv:UnspecifiedMatching MONDO:0008273 actinic prurigo skos:exactMatch mesh:C566780 semapv:UnspecifiedMatching MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch ICD10CM:Q78.1 Polyostotic fibrous dysplasia semapv:UnspecifiedMatching MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch NCIT:C34610 Polyostotic Fibrous Dysplasia semapv:UnspecifiedMatching MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:UnspecifiedMatching MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch SCTID:36517007 semapv:UnspecifiedMatching MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch UMLS:C0016065 semapv:UnspecifiedMatching MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch mesh:D005359 semapv:UnspecifiedMatching MONDO:0008275 familial expansile osteolysis skos:exactMatch DOID:0111542 familial expansile osteolysis semapv:UnspecifiedMatching MONDO:0008275 familial expansile osteolysis skos:exactMatch OMIM:174810 familial expansile osteolysis semapv:UnspecifiedMatching MONDO:0008275 familial expansile osteolysis skos:exactMatch Orphanet:85195 Familial expansile osteolysis semapv:UnspecifiedMatching MONDO:0008275 familial expansile osteolysis skos:exactMatch SCTID:254153009 semapv:UnspecifiedMatching MONDO:0008275 familial expansile osteolysis skos:exactMatch mesh:C536335 semapv:UnspecifiedMatching MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:exactMatch DOID:0050787 juvenile polyposis syndrome semapv:UnspecifiedMatching MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:exactMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:UnspecifiedMatching MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:exactMatch UMLS:C1868081 semapv:UnspecifiedMatching MONDO:0008277 stomach polyp skos:exactMatch NCIT:C3954 Gastric Polyp semapv:UnspecifiedMatching MONDO:0008277 stomach polyp skos:exactMatch SCTID:87252009 semapv:UnspecifiedMatching MONDO:0008277 stomach polyp skos:exactMatch mesh:C562464 semapv:UnspecifiedMatching MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:exactMatch DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome semapv:UnspecifiedMatching MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:exactMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:UnspecifiedMatching MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:exactMatch UMLS:C1832942 semapv:UnspecifiedMatching MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:exactMatch mesh:C563412 semapv:UnspecifiedMatching MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch DOID:3852 Peutz-Jeghers syndrome semapv:UnspecifiedMatching MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch NCIT:C3324 Peutz-Jeghers Syndrome semapv:UnspecifiedMatching MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch OMIM:175200 peutz-jeghers syndrome semapv:UnspecifiedMatching MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:UnspecifiedMatching MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch SCTID:54411001 semapv:UnspecifiedMatching MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch UMLS:C0031269 semapv:UnspecifiedMatching MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch mesh:D010580 semapv:UnspecifiedMatching MONDO:0008281 polyposis, intestinal, scattered and discrete skos:exactMatch OMIM:175400 polyposis, intestinal, scattered and discrete semapv:UnspecifiedMatching MONDO:0008281 polyposis, intestinal, scattered and discrete skos:exactMatch UMLS:C1868006 semapv:UnspecifiedMatching MONDO:0008282 polyposis, intestinal, with multiple exostoses skos:exactMatch OMIM:175450 polyposis, intestinal, with multiple exostoses semapv:UnspecifiedMatching MONDO:0008282 polyposis, intestinal, with multiple exostoses skos:exactMatch UMLS:C1868005 semapv:UnspecifiedMatching MONDO:0008282 polyposis, intestinal, with multiple exostoses skos:exactMatch mesh:C566776 semapv:UnspecifiedMatching MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch DOID:6225 Cronkhite-Canada syndrome semapv:UnspecifiedMatching MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch NCIT:C7035 Gastric Cronkhite Canada Polyposis semapv:UnspecifiedMatching MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch OMIM:175500 polyposis, skin pigmentation, alopecia, and fingernail changes semapv:UnspecifiedMatching MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:UnspecifiedMatching MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch SCTID:76304001 semapv:UnspecifiedMatching MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch UMLS:C0282207 semapv:UnspecifiedMatching MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch mesh:D044483 semapv:UnspecifiedMatching MONDO:0008284 polyposis of gastric fundus without polyposis coli skos:exactMatch UMLS:C1868001 semapv:UnspecifiedMatching MONDO:0008284 polyposis of gastric fundus without polyposis coli skos:exactMatch mesh:C566775 semapv:UnspecifiedMatching MONDO:0008285 polyps, multiple and recurrent inflammatory fibroid, gastrointestinal skos:exactMatch OMIM:175510 gist-plus syndrome semapv:UnspecifiedMatching MONDO:0008285 polyps, multiple and recurrent inflammatory fibroid, gastrointestinal skos:exactMatch UMLS:C5193005 semapv:UnspecifiedMatching MONDO:0008285 polyps, multiple and recurrent inflammatory fibroid, gastrointestinal skos:exactMatch mesh:C566774 semapv:UnspecifiedMatching MONDO:0008286 crossed polysyndactyly skos:exactMatch OMIM:175690 polysyndactyly, crossed semapv:UnspecifiedMatching MONDO:0008286 crossed polysyndactyly skos:exactMatch Orphanet:2935 Crossed polysyndactyly semapv:UnspecifiedMatching MONDO:0008286 crossed polysyndactyly skos:exactMatch UMLS:C1867999 semapv:UnspecifiedMatching MONDO:0008286 crossed polysyndactyly skos:exactMatch mesh:C566773 semapv:UnspecifiedMatching MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:exactMatch DOID:14761 Greig cephalopolysyndactyly syndrome semapv:UnspecifiedMatching MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:exactMatch NCIT:C35255 Greig Syndrome semapv:UnspecifiedMatching MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:exactMatch OMIM:175700 greig cephalopolysyndactyly syndrome semapv:UnspecifiedMatching MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:exactMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:UnspecifiedMatching MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:exactMatch SCTID:32985001 semapv:UnspecifiedMatching MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:exactMatch UMLS:C0265306 semapv:UnspecifiedMatching MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:exactMatch mesh:C537300 semapv:UnspecifiedMatching MONDO:0008288 popliteal cyst skos:exactMatch OMIM:175750 popliteal cyst semapv:UnspecifiedMatching MONDO:0008288 popliteal cyst skos:exactMatch SCTID:82675004 semapv:UnspecifiedMatching MONDO:0008288 popliteal cyst skos:exactMatch mesh:D011151 semapv:UnspecifiedMatching MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch DOID:0090125 brain small vessel disease 1 semapv:UnspecifiedMatching MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch OMIM:175780 brain small vessel disease 1 with or without ocular anomalies semapv:UnspecifiedMatching MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy semapv:UnspecifiedMatching MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch UMLS:C4551998 semapv:UnspecifiedMatching MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch mesh:C531642 semapv:UnspecifiedMatching MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch mesh:C564372 semapv:UnspecifiedMatching MONDO:0008290 porokeratosis 1, Mibelli type skos:exactMatch OMIM:175800 porokeratosis 1, multiple types semapv:UnspecifiedMatching MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:exactMatch OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated iia semapv:UnspecifiedMatching MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:exactMatch Orphanet:737 Porokeratosis plantaris palmaris et disseminata semapv:UnspecifiedMatching MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:exactMatch SCTID:718218005 semapv:UnspecifiedMatching MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:exactMatch DOID:0080213 punctate palmoplantar keratoderma type II semapv:UnspecifiedMatching MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:exactMatch OMIM:175860 palmoplantar keratoderma, punctate iia 2 semapv:UnspecifiedMatching MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:exactMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:UnspecifiedMatching MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:exactMatch SCTID:765096001 semapv:UnspecifiedMatching MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:exactMatch UMLS:C1867982 semapv:UnspecifiedMatching MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:exactMatch OMIM:175900 porokeratosis 3, multiple types semapv:UnspecifiedMatching MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:exactMatch mesh:C536339 semapv:UnspecifiedMatching MONDO:0008294 acute intermittent porphyria skos:exactMatch DOID:3890 acute intermittent porphyria semapv:UnspecifiedMatching MONDO:0008294 acute intermittent porphyria skos:exactMatch NCIT:C84536 Acute Intermittent Porphyria semapv:UnspecifiedMatching MONDO:0008294 acute intermittent porphyria skos:exactMatch OMIM:176000 porphyria, acute intermittent semapv:UnspecifiedMatching MONDO:0008294 acute intermittent porphyria skos:exactMatch Orphanet:79276 Acute intermittent porphyria semapv:UnspecifiedMatching MONDO:0008294 acute intermittent porphyria skos:exactMatch SCTID:234422006 semapv:UnspecifiedMatching MONDO:0008294 acute intermittent porphyria skos:exactMatch UMLS:C0162565 semapv:UnspecifiedMatching MONDO:0008294 acute intermittent porphyria skos:exactMatch mesh:D017118 semapv:UnspecifiedMatching MONDO:0008295 sporadic porphyria cutanea tarda skos:exactMatch OMIM:176090 porphyria cutanea tarda, iia 1 semapv:UnspecifiedMatching MONDO:0008295 sporadic porphyria cutanea tarda skos:exactMatch Orphanet:443057 Sporadic porphyria cutanea tarda semapv:UnspecifiedMatching MONDO:0008295 sporadic porphyria cutanea tarda skos:exactMatch SCTID:402479002 semapv:UnspecifiedMatching MONDO:0008295 sporadic porphyria cutanea tarda skos:exactMatch UMLS:C1867968 semapv:UnspecifiedMatching MONDO:0008295 sporadic porphyria cutanea tarda skos:exactMatch mesh:C566768 semapv:UnspecifiedMatching MONDO:0008296 familial porphyria cutanea tarda skos:exactMatch OMIM:176100 porphyria cutanea tarda semapv:UnspecifiedMatching MONDO:0008296 familial porphyria cutanea tarda skos:exactMatch Orphanet:443062 Familial porphyria cutanea tarda semapv:UnspecifiedMatching MONDO:0008296 familial porphyria cutanea tarda skos:exactMatch SCTID:59229005 semapv:UnspecifiedMatching MONDO:0008296 familial porphyria cutanea tarda skos:exactMatch UMLS:C0268323 semapv:UnspecifiedMatching MONDO:0008297 variegate porphyria skos:exactMatch DOID:4346 variegate porphyria semapv:UnspecifiedMatching MONDO:0008297 variegate porphyria skos:exactMatch NCIT:C85219 Variegate Porphyria semapv:UnspecifiedMatching MONDO:0008297 variegate porphyria skos:exactMatch OMIM:176200 variegate porphyria semapv:UnspecifiedMatching MONDO:0008297 variegate porphyria skos:exactMatch Orphanet:79473 Porphyria variegata semapv:UnspecifiedMatching MONDO:0008297 variegate porphyria skos:exactMatch SCTID:58275005 semapv:UnspecifiedMatching MONDO:0008297 variegate porphyria skos:exactMatch UMLS:C0162532 semapv:UnspecifiedMatching MONDO:0008297 variegate porphyria skos:exactMatch mesh:D046350 semapv:UnspecifiedMatching MONDO:0008298 postaxial tetramelic oligodactyly skos:exactMatch OMIM:176240 postaxial oligodactyly, tetramelic semapv:UnspecifiedMatching MONDO:0008298 postaxial tetramelic oligodactyly skos:exactMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:UnspecifiedMatching MONDO:0008298 postaxial tetramelic oligodactyly skos:exactMatch UMLS:C1867924 semapv:UnspecifiedMatching MONDO:0008298 postaxial tetramelic oligodactyly skos:exactMatch mesh:C566767 semapv:UnspecifiedMatching MONDO:0008299 posterior column ataxia skos:exactMatch OMIM:176250 posterior column ataxia semapv:UnspecifiedMatching MONDO:0008299 posterior column ataxia skos:exactMatch UMLS:C1867923 semapv:UnspecifiedMatching MONDO:0008299 posterior column ataxia skos:exactMatch mesh:C536342 semapv:UnspecifiedMatching MONDO:0008300 Prader-Willi syndrome skos:exactMatch DOID:11983 Prader-Willi syndrome semapv:UnspecifiedMatching MONDO:0008300 Prader-Willi syndrome skos:exactMatch NCIT:C75463 Prader-Willi Syndrome semapv:UnspecifiedMatching MONDO:0008300 Prader-Willi syndrome skos:exactMatch OMIM:176270 prader-willi syndrome semapv:UnspecifiedMatching MONDO:0008300 Prader-Willi syndrome skos:exactMatch Orphanet:739 Prader-Willi syndrome semapv:UnspecifiedMatching MONDO:0008300 Prader-Willi syndrome skos:exactMatch SCTID:89392001 semapv:UnspecifiedMatching MONDO:0008300 Prader-Willi syndrome skos:exactMatch UMLS:C0032897 semapv:UnspecifiedMatching MONDO:0008300 Prader-Willi syndrome skos:exactMatch mesh:D011218 semapv:UnspecifiedMatching MONDO:0008301 Guttmacher syndrome skos:exactMatch DOID:0111544 Guttmacher syndrome semapv:UnspecifiedMatching MONDO:0008301 Guttmacher syndrome skos:exactMatch OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias semapv:UnspecifiedMatching MONDO:0008301 Guttmacher syndrome skos:exactMatch Orphanet:2957 Guttmacher syndrome semapv:UnspecifiedMatching MONDO:0008301 Guttmacher syndrome skos:exactMatch SCTID:722452004 semapv:UnspecifiedMatching MONDO:0008301 Guttmacher syndrome skos:exactMatch UMLS:C1867801 semapv:UnspecifiedMatching MONDO:0008301 Guttmacher syndrome skos:exactMatch mesh:C538278 semapv:UnspecifiedMatching MONDO:0008302 centra precocious puberty 1 skos:exactMatch DOID:0112310 central precocious puberty 1 semapv:UnspecifiedMatching MONDO:0008302 centra precocious puberty 1 skos:exactMatch OMIM:176400 precocious puberty, central, 1 semapv:UnspecifiedMatching MONDO:0008302 centra precocious puberty 1 skos:exactMatch UMLS:C3805879 semapv:UnspecifiedMatching MONDO:0008303 familial male-limited precocious puberty skos:exactMatch DOID:0111545 familial male-limited precocious puberty semapv:UnspecifiedMatching MONDO:0008303 familial male-limited precocious puberty skos:exactMatch OMIM:176410 precocious puberty, male-limited semapv:UnspecifiedMatching MONDO:0008303 familial male-limited precocious puberty skos:exactMatch Orphanet:3000 Familial peripheral male-limited precocious puberty semapv:UnspecifiedMatching MONDO:0008303 familial male-limited precocious puberty skos:exactMatch SCTID:237818003 semapv:UnspecifiedMatching MONDO:0008303 familial male-limited precocious puberty skos:exactMatch UMLS:C0342549 semapv:UnspecifiedMatching MONDO:0008304 premature chromatid separation trait skos:exactMatch OMIM:176430 premature chromatid separation trait semapv:UnspecifiedMatching MONDO:0008304 premature chromatid separation trait skos:exactMatch UMLS:C1864389 semapv:UnspecifiedMatching MONDO:0008305 Currarino triad skos:exactMatch DOID:0111546 Currarino syndrome semapv:UnspecifiedMatching MONDO:0008305 Currarino triad skos:exactMatch OMIM:176450 currarino syndrome semapv:UnspecifiedMatching MONDO:0008305 Currarino triad skos:exactMatch Orphanet:1552 Currarino syndrome semapv:UnspecifiedMatching MONDO:0008305 Currarino triad skos:exactMatch SCTID:413936007 semapv:UnspecifiedMatching MONDO:0008305 Currarino triad skos:exactMatch UMLS:C1531773 semapv:UnspecifiedMatching MONDO:0008305 Currarino triad skos:exactMatch mesh:C536221 semapv:UnspecifiedMatching MONDO:0008306 ABri amyloidosis skos:exactMatch DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 semapv:UnspecifiedMatching MONDO:0008306 ABri amyloidosis skos:exactMatch OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 semapv:UnspecifiedMatching MONDO:0008306 ABri amyloidosis skos:exactMatch Orphanet:97345 ABri amyloidosis semapv:UnspecifiedMatching MONDO:0008306 ABri amyloidosis skos:exactMatch UMLS:C5190835 semapv:UnspecifiedMatching MONDO:0008306 ABri amyloidosis skos:exactMatch mesh:C538208 semapv:UnspecifiedMatching MONDO:0008307 presenile dementia, Kraepelin type skos:exactMatch OMIM:176600 presenile dementia, kraepelin iia semapv:UnspecifiedMatching MONDO:0008307 presenile dementia, Kraepelin type skos:exactMatch UMLS:C1867772 semapv:UnspecifiedMatching MONDO:0008307 presenile dementia, Kraepelin type skos:exactMatch mesh:C535273 semapv:UnspecifiedMatching MONDO:0008308 priapism, familial idiopathic skos:exactMatch OMIM:176620 priapism, familial idiopathic semapv:UnspecifiedMatching MONDO:0008308 priapism, familial idiopathic skos:exactMatch UMLS:C1867771 semapv:UnspecifiedMatching MONDO:0008308 priapism, familial idiopathic skos:exactMatch mesh:C531791 semapv:UnspecifiedMatching MONDO:0008309 primary release disorder of platelets skos:exactMatch OMIM:176630 primary release disorder of platelets semapv:UnspecifiedMatching MONDO:0008309 primary release disorder of platelets skos:exactMatch UMLS:C1867770 semapv:UnspecifiedMatching MONDO:0008309 primary release disorder of platelets skos:exactMatch mesh:C566759 semapv:UnspecifiedMatching MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch DOID:3911 progeria semapv:UnspecifiedMatching MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch NCIT:C34951 Progeria semapv:UnspecifiedMatching MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch OMIM:176670 hutchinson-gilford progeria syndrome semapv:UnspecifiedMatching MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:UnspecifiedMatching MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch SCTID:238870004 semapv:UnspecifiedMatching MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch UMLS:C0033300 semapv:UnspecifiedMatching MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:exactMatch OMIM:176690 progeroid short stature with pigmented nevi semapv:UnspecifiedMatching MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:exactMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:UnspecifiedMatching MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:exactMatch SCTID:399947002 semapv:UnspecifiedMatching MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:exactMatch UMLS:C1261128 semapv:UnspecifiedMatching MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:exactMatch mesh:C536422 semapv:UnspecifiedMatching MONDO:0008312 autosomal dominant prognathism skos:exactMatch OMIM:176700 prognathism, mandibular semapv:UnspecifiedMatching MONDO:0008312 autosomal dominant prognathism skos:exactMatch Orphanet:2964 Autosomal dominant prognathism semapv:UnspecifiedMatching MONDO:0008312 autosomal dominant prognathism skos:exactMatch UMLS:C0399526 semapv:UnspecifiedMatching MONDO:0008312 autosomal dominant prognathism skos:exactMatch mesh:D008313 semapv:UnspecifiedMatching MONDO:0008313 pelvic organ prolapse, susceptibility to skos:exactMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:UnspecifiedMatching MONDO:0008314 pronation-supination of the forearm, impairment of skos:exactMatch OMIM:176800 pronation-supination of the forearm, impairment of semapv:UnspecifiedMatching MONDO:0008314 pronation-supination of the forearm, impairment of skos:exactMatch UMLS:C1867726 semapv:UnspecifiedMatching MONDO:0008314 pronation-supination of the forearm, impairment of skos:exactMatch mesh:C566757 semapv:UnspecifiedMatching MONDO:0008315 prostate cancer skos:exactMatch DOID:10283 prostate cancer semapv:UnspecifiedMatching MONDO:0008315 prostate cancer skos:exactMatch NCIT:C7378 Malignant Prostate Neoplasm semapv:UnspecifiedMatching MONDO:0008315 prostate cancer skos:exactMatch SCTID:399068003 semapv:UnspecifiedMatching MONDO:0008315 prostate cancer skos:exactMatch UMLS:C0376358 semapv:UnspecifiedMatching MONDO:0008315 prostate cancer skos:exactMatch mesh:D011471 semapv:UnspecifiedMatching MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:exactMatch DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency semapv:UnspecifiedMatching MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:exactMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:UnspecifiedMatching MONDO:0008317 proteolytic capacity of plasma skos:exactMatch OMIM:176900 proteolytic capacity of plasma semapv:UnspecifiedMatching MONDO:0008318 Proteus syndrome skos:exactMatch DOID:13482 Proteus syndrome semapv:UnspecifiedMatching MONDO:0008318 Proteus syndrome skos:exactMatch NCIT:C85032 Proteus Syndrome semapv:UnspecifiedMatching MONDO:0008318 Proteus syndrome skos:exactMatch OMIM:176920 proteus syndrome semapv:UnspecifiedMatching MONDO:0008318 Proteus syndrome skos:exactMatch Orphanet:744 Proteus syndrome semapv:UnspecifiedMatching MONDO:0008318 Proteus syndrome skos:exactMatch SCTID:23150001 semapv:UnspecifiedMatching MONDO:0008318 Proteus syndrome skos:exactMatch UMLS:C0085261 semapv:UnspecifiedMatching MONDO:0008318 Proteus syndrome skos:exactMatch mesh:D016715 semapv:UnspecifiedMatching MONDO:0008319 protoporphyria, erythropoietic, 1 skos:exactMatch NCIT:C84698 Erythropoietic Protoporphyria semapv:UnspecifiedMatching MONDO:0008319 protoporphyria, erythropoietic, 1 skos:exactMatch OMIM:177000 protoporphyria, erythropoietic, 1 semapv:UnspecifiedMatching MONDO:0008320 Protrusio acetabuli skos:exactMatch OMIM:177050 protrusio acetabuli semapv:UnspecifiedMatching MONDO:0008320 Protrusio acetabuli skos:exactMatch SCTID:59606006 semapv:UnspecifiedMatching MONDO:0008321 pruritus, hereditary localized skos:exactMatch OMIM:177100 pruritus, hereditary localized semapv:UnspecifiedMatching MONDO:0008321 pruritus, hereditary localized skos:exactMatch UMLS:C1867499 semapv:UnspecifiedMatching MONDO:0008321 pruritus, hereditary localized skos:exactMatch mesh:C566754 semapv:UnspecifiedMatching MONDO:0008322 pseudoachondroplasia skos:exactMatch DOID:0080047 pseudoachondroplasia semapv:UnspecifiedMatching MONDO:0008322 pseudoachondroplasia skos:exactMatch NCIT:C118635 Pseudoachondroplasia semapv:UnspecifiedMatching MONDO:0008322 pseudoachondroplasia skos:exactMatch OMIM:177170 pseudoachondroplasia semapv:UnspecifiedMatching MONDO:0008322 pseudoachondroplasia skos:exactMatch Orphanet:750 Pseudoachondroplasia semapv:UnspecifiedMatching MONDO:0008322 pseudoachondroplasia skos:exactMatch SCTID:22567005 semapv:UnspecifiedMatching MONDO:0008322 pseudoachondroplasia skos:exactMatch UMLS:C0410538 semapv:UnspecifiedMatching MONDO:0008322 pseudoachondroplasia skos:exactMatch mesh:C535819 semapv:UnspecifiedMatching MONDO:0008323 Liddle syndrome skos:exactMatch DOID:0050477 Liddle syndrome semapv:UnspecifiedMatching MONDO:0008323 Liddle syndrome skos:exactMatch NCIT:C84827 Liddle Syndrome semapv:UnspecifiedMatching MONDO:0008323 Liddle syndrome skos:exactMatch OMIMPS:177200 semapv:UnspecifiedMatching MONDO:0008323 Liddle syndrome skos:exactMatch Orphanet:526 Liddle syndrome semapv:UnspecifiedMatching MONDO:0008323 Liddle syndrome skos:exactMatch SCTID:707747007 semapv:UnspecifiedMatching MONDO:0008323 Liddle syndrome skos:exactMatch UMLS:C0221043 semapv:UnspecifiedMatching MONDO:0008323 Liddle syndrome skos:exactMatch mesh:D056929 semapv:UnspecifiedMatching MONDO:0008324 pseudoarthrogryposis skos:exactMatch OMIM:177300 pseudoarthrogryposis semapv:UnspecifiedMatching MONDO:0008324 pseudoarthrogryposis skos:exactMatch UMLS:C1867485 semapv:UnspecifiedMatching MONDO:0008324 pseudoarthrogryposis skos:exactMatch mesh:C566753 semapv:UnspecifiedMatching MONDO:0008325 Pseudoatrophoderma colli skos:exactMatch OMIM:177350 pseudoatrophoderma colli semapv:UnspecifiedMatching MONDO:0008325 Pseudoatrophoderma colli skos:exactMatch SCTID:238840009 semapv:UnspecifiedMatching MONDO:0008325 Pseudoatrophoderma colli skos:exactMatch UMLS:C0406561 semapv:UnspecifiedMatching MONDO:0008325 Pseudoatrophoderma colli skos:exactMatch mesh:C562909 semapv:UnspecifiedMatching MONDO:0008326 obsolete pseudocholinesterase, increase in plasma level of skos:exactMatch OMIM:177600 pseudocholinesterase, increase 1n plasma level of semapv:UnspecifiedMatching MONDO:0008327 exfoliation syndrome skos:exactMatch DOID:13641 exfoliation syndrome semapv:UnspecifiedMatching MONDO:0008327 exfoliation syndrome skos:exactMatch NCIT:C129025 Exfoliation Syndrome semapv:UnspecifiedMatching MONDO:0008327 exfoliation syndrome skos:exactMatch SCTID:111514006 semapv:UnspecifiedMatching MONDO:0008327 exfoliation syndrome skos:exactMatch UMLS:C0206368 semapv:UnspecifiedMatching MONDO:0008327 exfoliation syndrome skos:exactMatch mesh:D017889 semapv:UnspecifiedMatching MONDO:0008328 glaucoma 1, open angle, P skos:exactMatch OMIM:177700 glaucoma 1, open angle, p semapv:UnspecifiedMatching MONDO:0008328 glaucoma 1, open angle, P skos:exactMatch UMLS:C3888338 semapv:UnspecifiedMatching MONDO:0008328 glaucoma 1, open angle, P skos:exactMatch mesh:C566748 semapv:UnspecifiedMatching MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:exactMatch DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 semapv:UnspecifiedMatching MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:exactMatch NCIT:C126810 Hyponatremic Mineralocorticoid Resistance due to Mineralocorticoid Receptor Defect semapv:UnspecifiedMatching MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:exactMatch OMIM:177735 pseudohypoaldosteronism, iia i, autosomal dominant semapv:UnspecifiedMatching MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:exactMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:UnspecifiedMatching MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:exactMatch UMLS:C1449842 semapv:UnspecifiedMatching MONDO:0008330 pseudomonilethrix skos:exactMatch OMIM:177750 pseudomonilethrix semapv:UnspecifiedMatching MONDO:0008330 pseudomonilethrix skos:exactMatch SCTID:254229006 semapv:UnspecifiedMatching MONDO:0008330 pseudomonilethrix skos:exactMatch UMLS:C0432346 semapv:UnspecifiedMatching MONDO:0008330 pseudomonilethrix skos:exactMatch mesh:C562988 semapv:UnspecifiedMatching MONDO:0008331 obsolete pseudopapilledema skos:exactMatch DOID:1392 pseudopapilledema semapv:UnspecifiedMatching MONDO:0008331 obsolete pseudopapilledema skos:exactMatch OMIM:177800 pseudopapilledema semapv:UnspecifiedMatching MONDO:0008331 obsolete pseudopapilledema skos:exactMatch Orphanet:519339 Pseudopapilledema semapv:UnspecifiedMatching MONDO:0008331 obsolete pseudopapilledema skos:exactMatch SCTID:57138009 semapv:UnspecifiedMatching MONDO:0008331 obsolete pseudopapilledema skos:exactMatch UMLS:C0155300 semapv:UnspecifiedMatching MONDO:0008331 obsolete pseudopapilledema skos:exactMatch mesh:C562401 semapv:UnspecifiedMatching MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch DOID:0111056 platelet-type bleeding disorder 3 semapv:UnspecifiedMatching MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch NCIT:C131681 Platelet-Type von Willebrand Disease semapv:UnspecifiedMatching MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch OMIM:177820 von willebrand disease, platelet-type semapv:UnspecifiedMatching MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:UnspecifiedMatching MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch mesh:C536458 semapv:UnspecifiedMatching MONDO:0008333 pseudoxanthoma elasticum, forme fruste skos:exactMatch OMIM:177850 pseudoxanthoma elasticum, forme fruste semapv:UnspecifiedMatching MONDO:0008334 psoriasis 1, susceptibility to skos:exactMatch DOID:0111286 psoriasis 1 semapv:UnspecifiedMatching MONDO:0008334 psoriasis 1, susceptibility to skos:exactMatch OMIM:177900 psoriasis 1, susceptibility to semapv:UnspecifiedMatching MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:exactMatch OMIM:177980 pterygia, impaired intellectual development, and distinctive craniofacial features semapv:UnspecifiedMatching MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:exactMatch Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:UnspecifiedMatching MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:exactMatch SCTID:716090004 semapv:UnspecifiedMatching MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:exactMatch UMLS:C1867443 semapv:UnspecifiedMatching MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:exactMatch mesh:C535844 semapv:UnspecifiedMatching MONDO:0008336 pterygium colli, isolated skos:exactMatch OMIM:177990 pterygium colli, isolated semapv:UnspecifiedMatching MONDO:0008336 pterygium colli, isolated skos:exactMatch UMLS:C1867442 semapv:UnspecifiedMatching MONDO:0008336 pterygium colli, isolated skos:exactMatch mesh:C566741 semapv:UnspecifiedMatching MONDO:0008337 familial pterygium of the conjunctiva skos:exactMatch OMIM:178000 pterygium of conjunctiva and cornea semapv:UnspecifiedMatching MONDO:0008337 familial pterygium of the conjunctiva skos:exactMatch Orphanet:2989 Familial pterygium of the conjunctiva semapv:UnspecifiedMatching MONDO:0008337 familial pterygium of the conjunctiva skos:exactMatch UMLS:C1867441 semapv:UnspecifiedMatching MONDO:0008337 familial pterygium of the conjunctiva skos:exactMatch mesh:C566740 semapv:UnspecifiedMatching MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:exactMatch DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A semapv:UnspecifiedMatching MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:exactMatch OMIM:178110 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a semapv:UnspecifiedMatching MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:exactMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:UnspecifiedMatching MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:exactMatch UMLS:C1867440 semapv:UnspecifiedMatching MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:exactMatch mesh:C566739 semapv:UnspecifiedMatching MONDO:0008339 antecubital pterygium syndrome skos:exactMatch OMIM:178200 pterygium, antecubital semapv:UnspecifiedMatching MONDO:0008339 antecubital pterygium syndrome skos:exactMatch Orphanet:2987 Antecubital pterygium syndrome semapv:UnspecifiedMatching MONDO:0008339 antecubital pterygium syndrome skos:exactMatch UMLS:C1867439 semapv:UnspecifiedMatching MONDO:0008339 antecubital pterygium syndrome skos:exactMatch mesh:C566738 semapv:UnspecifiedMatching MONDO:0008340 ptosis, hereditary congenital, 1 skos:exactMatch DOID:0060261 congenital ptosis semapv:UnspecifiedMatching MONDO:0008340 ptosis, hereditary congenital, 1 skos:exactMatch NCIT:C27049 Congenital Eyelid Ptosis semapv:UnspecifiedMatching MONDO:0008340 ptosis, hereditary congenital, 1 skos:exactMatch OMIM:178300 ptosis, hereditary congenital 1 semapv:UnspecifiedMatching MONDO:0008340 ptosis, hereditary congenital, 1 skos:exactMatch Orphanet:91411 Congenital ptosis semapv:UnspecifiedMatching MONDO:0008340 ptosis, hereditary congenital, 1 skos:exactMatch SCTID:268163008 semapv:UnspecifiedMatching MONDO:0008340 ptosis, hereditary congenital, 1 skos:exactMatch mesh:C566737 semapv:UnspecifiedMatching MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:exactMatch OMIM:178330 ptosis, strabismus, and ectopic pupils semapv:UnspecifiedMatching MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:exactMatch Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome semapv:UnspecifiedMatching MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:exactMatch UMLS:C1867437 semapv:UnspecifiedMatching MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:exactMatch mesh:C566736 semapv:UnspecifiedMatching MONDO:0008342 pubic bone dysplasia skos:exactMatch OMIM:178350 pubic bone dysplasia semapv:UnspecifiedMatching MONDO:0008342 pubic bone dysplasia skos:exactMatch UMLS:C1867436 semapv:UnspecifiedMatching MONDO:0008342 pubic bone dysplasia skos:exactMatch mesh:C566735 semapv:UnspecifiedMatching MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch NCIT:C99033 Pulmonary Valve Atresia with Ventricular Septal Defect semapv:UnspecifiedMatching MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch OMIM:178370 pulmonary atresia with ventricular septal defect semapv:UnspecifiedMatching MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch Orphanet:1207 Pulmonary atresia with ventricular septal defect semapv:UnspecifiedMatching MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch SCTID:253591008 semapv:UnspecifiedMatching MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch UMLS:C0344976 semapv:UnspecifiedMatching MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch mesh:C562833 semapv:UnspecifiedMatching MONDO:0008344 pulmonary edema of mountaineers, susceptibility to skos:exactMatch OMIM:178400 pulmonary edema of mountaineers, susceptibility to semapv:UnspecifiedMatching MONDO:0008344 pulmonary edema of mountaineers, susceptibility to skos:exactMatch SCTID:233954004 semapv:UnspecifiedMatching MONDO:0008344 pulmonary edema of mountaineers, susceptibility to skos:exactMatch mesh:C535833 semapv:UnspecifiedMatching MONDO:0008346 pulmonary hemosiderosis skos:exactMatch DOID:10328 siderosis semapv:UnspecifiedMatching MONDO:0008346 pulmonary hemosiderosis skos:exactMatch DOID:12118 pulmonary hemosiderosis semapv:UnspecifiedMatching MONDO:0008346 pulmonary hemosiderosis skos:exactMatch OMIM:178550 pulmonary hemosiderosis semapv:UnspecifiedMatching MONDO:0008346 pulmonary hemosiderosis skos:exactMatch Orphanet:99931 Idiopathic pulmonary hemosiderosis semapv:UnspecifiedMatching MONDO:0008346 pulmonary hemosiderosis skos:exactMatch SCTID:40527005 semapv:UnspecifiedMatching MONDO:0008346 pulmonary hemosiderosis skos:exactMatch mesh:D012806 semapv:UnspecifiedMatching MONDO:0008347 obsolete idiopathic and/or familial pulmonary arterial hypertension skos:exactMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:UnspecifiedMatching MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:exactMatch OMIM:178610 pulmonary nodular lymphoid hyperplasia, familial semapv:UnspecifiedMatching MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:exactMatch Orphanet:60026 Pulmonary nodular lymphoid hyperplasia semapv:UnspecifiedMatching MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:exactMatch SCTID:718097008 semapv:UnspecifiedMatching MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:exactMatch UMLS:C1867419 semapv:UnspecifiedMatching MONDO:0008349 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities skos:exactMatch OMIM:178650 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities semapv:UnspecifiedMatching MONDO:0008349 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities skos:exactMatch UMLS:C1867407 semapv:UnspecifiedMatching MONDO:0008349 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities skos:exactMatch mesh:C566733 semapv:UnspecifiedMatching MONDO:0008350 pulmonic stenosis and deafness skos:exactMatch OMIM:178651 pulmonic stenosis and deafness semapv:UnspecifiedMatching MONDO:0008350 pulmonic stenosis and deafness skos:exactMatch UMLS:C1867406 semapv:UnspecifiedMatching MONDO:0008351 obsolete pupil, egg-shaped skos:exactMatch OMIM:178800 pupil, egg-shaped semapv:UnspecifiedMatching MONDO:0008351 obsolete pupil, egg-shaped skos:exactMatch mesh:C566731 semapv:UnspecifiedMatching MONDO:0008352 pupillary membrane, persistence of skos:exactMatch OMIM:178900 pupillary membrane, persistence of semapv:UnspecifiedMatching MONDO:0008352 pupillary membrane, persistence of skos:exactMatch mesh:C562700 semapv:UnspecifiedMatching MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch OMIM:178995 pruritic urticarial papules and plaques of pregnancy semapv:UnspecifiedMatching MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:UnspecifiedMatching MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch SCTID:88697005 semapv:UnspecifiedMatching MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch mesh:C535817 semapv:UnspecifiedMatching MONDO:0008354 purpura simplex skos:exactMatch OMIM:179000 purpura simplex semapv:UnspecifiedMatching MONDO:0008354 purpura simplex skos:exactMatch SCTID:277791008 semapv:UnspecifiedMatching MONDO:0008354 purpura simplex skos:exactMatch UMLS:C0272309 semapv:UnspecifiedMatching MONDO:0008354 purpura simplex skos:exactMatch mesh:C536249 semapv:UnspecifiedMatching MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 skos:exactMatch OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 semapv:UnspecifiedMatching MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 skos:exactMatch UMLS:C1867403 semapv:UnspecifiedMatching MONDO:0008356 radial heads, posterior dislocation of skos:exactMatch OMIM:179200 radial heads, posterior dislocation of semapv:UnspecifiedMatching MONDO:0008356 radial heads, posterior dislocation of skos:exactMatch UMLS:C1867398 semapv:UnspecifiedMatching MONDO:0008356 radial heads, posterior dislocation of skos:exactMatch mesh:C566728 semapv:UnspecifiedMatching MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:exactMatch OMIM:179250 radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema semapv:UnspecifiedMatching MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:exactMatch Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome semapv:UnspecifiedMatching MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:exactMatch SCTID:716092007 semapv:UnspecifiedMatching MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:exactMatch mesh:C536262 semapv:UnspecifiedMatching MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:exactMatch OMIM:179270 radial ray hypoplasia with choanal atresia semapv:UnspecifiedMatching MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:exactMatch Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome semapv:UnspecifiedMatching MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:exactMatch SCTID:232373003 semapv:UnspecifiedMatching MONDO:0008359 radio-renal syndrome skos:exactMatch OMIM:179280 radial-renal syndrome semapv:UnspecifiedMatching MONDO:0008359 radio-renal syndrome skos:exactMatch Orphanet:3015 Radio-renal syndrome semapv:UnspecifiedMatching MONDO:0008359 radio-renal syndrome skos:exactMatch SCTID:766765009 semapv:UnspecifiedMatching MONDO:0008359 radio-renal syndrome skos:exactMatch UMLS:C2931146 semapv:UnspecifiedMatching MONDO:0008359 radio-renal syndrome skos:exactMatch mesh:C536267 semapv:UnspecifiedMatching MONDO:0008361 radius, aplasia of, with cleft lip/palate skos:exactMatch OMIM:179400 radius, aplasia of, with cleft lip/palate semapv:UnspecifiedMatching MONDO:0008361 radius, aplasia of, with cleft lip/palate skos:exactMatch UMLS:C1867395 semapv:UnspecifiedMatching MONDO:0008362 ragweed sensitivity skos:exactMatch OMIM:179450 ragweed sensitivity semapv:UnspecifiedMatching MONDO:0008362 ragweed sensitivity skos:exactMatch mesh:C566725 semapv:UnspecifiedMatching MONDO:0008363 raindrop hypopigmentation skos:exactMatch OMIM:179500 raindrop hypopigmentation semapv:UnspecifiedMatching MONDO:0008363 raindrop hypopigmentation skos:exactMatch mesh:C566724 semapv:UnspecifiedMatching MONDO:0008364 Raynaud disease skos:exactMatch DOID:10300 Raynaud disease semapv:UnspecifiedMatching MONDO:0008364 Raynaud disease skos:exactMatch ICD10CM:I73.0 Raynaud's syndrome semapv:UnspecifiedMatching MONDO:0008364 Raynaud disease skos:exactMatch NCIT:C116359 Secondary Raynaud Phenomenon semapv:UnspecifiedMatching MONDO:0008364 Raynaud disease skos:exactMatch OMIM:179600 raynaud disease semapv:UnspecifiedMatching MONDO:0008364 Raynaud disease skos:exactMatch SCTID:195295006 semapv:UnspecifiedMatching MONDO:0008364 Raynaud disease skos:exactMatch UMLS:C0034734 semapv:UnspecifiedMatching MONDO:0008364 Raynaud disease skos:exactMatch mesh:D011928 semapv:UnspecifiedMatching MONDO:0008365 recombinant 8 syndrome skos:exactMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:UnspecifiedMatching MONDO:0008365 recombinant 8 syndrome skos:exactMatch Orphanet:96167 Recombinant 8 syndrome semapv:UnspecifiedMatching MONDO:0008365 recombinant 8 syndrome skos:exactMatch SCTID:718189004 semapv:UnspecifiedMatching MONDO:0008365 recombinant 8 syndrome skos:exactMatch UMLS:C0795822 semapv:UnspecifiedMatching MONDO:0008365 recombinant 8 syndrome skos:exactMatch mesh:C535296 semapv:UnspecifiedMatching MONDO:0008366 red cell permeability defect skos:exactMatch OMIM:179650 red cell permeability defect semapv:UnspecifiedMatching MONDO:0008366 red cell permeability defect skos:exactMatch UMLS:C1867340 semapv:UnspecifiedMatching MONDO:0008367 red cell phospholipid defect with hemolysis skos:exactMatch OMIM:179700 red cell phospholipid defect with hemolysis semapv:UnspecifiedMatching MONDO:0008367 red cell phospholipid defect with hemolysis skos:exactMatch UMLS:C1867339 semapv:UnspecifiedMatching MONDO:0008367 red cell phospholipid defect with hemolysis skos:exactMatch mesh:C535298 semapv:UnspecifiedMatching MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:exactMatch OMIM:179800 renal tubular acidosis, distal, 1 semapv:UnspecifiedMatching MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:exactMatch Orphanet:93608 Autosomal dominant distal renal tubular acidosis semapv:UnspecifiedMatching MONDO:0008369 proximal renal tubular acidosis skos:exactMatch OMIM:179830 renal tubular acidosis, proximal semapv:UnspecifiedMatching MONDO:0008369 proximal renal tubular acidosis skos:exactMatch Orphanet:47159 Proximal renal tubular acidosis semapv:UnspecifiedMatching MONDO:0008369 proximal renal tubular acidosis skos:exactMatch SCTID:24790002 semapv:UnspecifiedMatching MONDO:0008371 Dowling-Degos disease skos:exactMatch DOID:0060256 Dowling-Degos disease semapv:UnspecifiedMatching MONDO:0008371 Dowling-Degos disease skos:exactMatch Orphanet:79145 Dowling-Degos disease semapv:UnspecifiedMatching MONDO:0008371 Dowling-Degos disease skos:exactMatch UMLS:C3714534 semapv:UnspecifiedMatching MONDO:0008371 Dowling-Degos disease skos:exactMatch mesh:C562924 semapv:UnspecifiedMatching MONDO:0008372 retinal aplasia skos:exactMatch OMIM:179900 retinal aplasia semapv:UnspecifiedMatching MONDO:0008372 retinal aplasia skos:exactMatch UMLS:C1867331 semapv:UnspecifiedMatching MONDO:0008372 retinal aplasia skos:exactMatch mesh:C566720 semapv:UnspecifiedMatching MONDO:0008373 retinal arterial tortuosity skos:exactMatch DOID:0111547 retinal arterial tortuosity semapv:UnspecifiedMatching MONDO:0008373 retinal arterial tortuosity skos:exactMatch OMIM:180000 retinal arteries, tortuosity of semapv:UnspecifiedMatching MONDO:0008373 retinal arterial tortuosity skos:exactMatch Orphanet:75326 Retinal arterial tortuosity semapv:UnspecifiedMatching MONDO:0008374 retinal cone dystrophy type 1 skos:exactMatch DOID:0081024 retinal cone dystrophy 1 semapv:UnspecifiedMatching MONDO:0008374 retinal cone dystrophy type 1 skos:exactMatch OMIM:180020 retinal cone dystrophy 1 semapv:UnspecifiedMatching MONDO:0008374 retinal cone dystrophy type 1 skos:exactMatch mesh:C566719 semapv:UnspecifiedMatching MONDO:0008375 retinal detachment skos:exactMatch DOID:5327 retinal detachment semapv:UnspecifiedMatching MONDO:0008375 retinal detachment skos:exactMatch NCIT:C26874 Retinal Detachment semapv:UnspecifiedMatching MONDO:0008375 retinal detachment skos:exactMatch OMIM:180050 retinal detachment semapv:UnspecifiedMatching MONDO:0008375 retinal detachment skos:exactMatch SCTID:42059000 semapv:UnspecifiedMatching MONDO:0008375 retinal detachment skos:exactMatch UMLS:C0035305 semapv:UnspecifiedMatching MONDO:0008375 retinal detachment skos:exactMatch mesh:D012163 semapv:UnspecifiedMatching MONDO:0008376 retinal venous beading skos:exactMatch OMIM:180080 retinal venous beading semapv:UnspecifiedMatching MONDO:0008377 retinitis pigmentosa 1 skos:exactMatch DOID:0110390 retinitis pigmentosa 1 semapv:UnspecifiedMatching MONDO:0008377 retinitis pigmentosa 1 skos:exactMatch OMIM:180100 retinitis pigmentosa 1 semapv:UnspecifiedMatching MONDO:0008377 retinitis pigmentosa 1 skos:exactMatch UMLS:C0220701 semapv:UnspecifiedMatching MONDO:0008377 retinitis pigmentosa 1 skos:exactMatch mesh:C538365 semapv:UnspecifiedMatching MONDO:0008378 retinitis pigmentosa 9 skos:exactMatch DOID:0110387 retinitis pigmentosa 9 semapv:UnspecifiedMatching MONDO:0008378 retinitis pigmentosa 9 skos:exactMatch OMIM:180104 retinitis pigmentosa 9 semapv:UnspecifiedMatching MONDO:0008378 retinitis pigmentosa 9 skos:exactMatch UMLS:C1867300 semapv:UnspecifiedMatching MONDO:0008378 retinitis pigmentosa 9 skos:exactMatch mesh:C566716 semapv:UnspecifiedMatching MONDO:0008379 retinitis pigmentosa 10 skos:exactMatch DOID:0110388 retinitis pigmentosa 10 semapv:UnspecifiedMatching MONDO:0008379 retinitis pigmentosa 10 skos:exactMatch OMIM:180105 retinitis pigmentosa 10 semapv:UnspecifiedMatching MONDO:0008379 retinitis pigmentosa 10 skos:exactMatch UMLS:C1867299 semapv:UnspecifiedMatching MONDO:0008379 retinitis pigmentosa 10 skos:exactMatch mesh:C566715 semapv:UnspecifiedMatching MONDO:0008380 retinoblastoma skos:exactMatch DOID:768 retinoblastoma semapv:UnspecifiedMatching MONDO:0008380 retinoblastoma skos:exactMatch NCIT:C7541 Retinoblastoma semapv:UnspecifiedMatching MONDO:0008380 retinoblastoma skos:exactMatch Orphanet:790 Retinoblastoma semapv:UnspecifiedMatching MONDO:0008380 retinoblastoma skos:exactMatch SCTID:370967009 semapv:UnspecifiedMatching MONDO:0008380 retinoblastoma skos:exactMatch UMLS:C0035335 semapv:UnspecifiedMatching MONDO:0008380 retinoblastoma skos:exactMatch mesh:D012175 semapv:UnspecifiedMatching MONDO:0008381 dominant pericentral pigmentary retinopathy skos:exactMatch DOID:0110420 dominant pericentral pigmentary retinopathy semapv:UnspecifiedMatching MONDO:0008381 dominant pericentral pigmentary retinopathy skos:exactMatch OMIM:180210 retinopathy, pericentral pigmentary, dominant semapv:UnspecifiedMatching MONDO:0008381 dominant pericentral pigmentary retinopathy skos:exactMatch UMLS:C1867261 semapv:UnspecifiedMatching MONDO:0008381 dominant pericentral pigmentary retinopathy skos:exactMatch mesh:C566713 semapv:UnspecifiedMatching MONDO:0008382 retinoschisis, autosomal dominant skos:exactMatch OMIM:180270 retinoschisis, autosomal dominant semapv:UnspecifiedMatching MONDO:0008382 retinoschisis, autosomal dominant skos:exactMatch UMLS:C1867235 semapv:UnspecifiedMatching MONDO:0008382 retinoschisis, autosomal dominant skos:exactMatch mesh:C000598640 semapv:UnspecifiedMatching MONDO:0008383 rheumatoid arthritis skos:exactMatch DOID:7148 rheumatoid arthritis semapv:UnspecifiedMatching MONDO:0008383 rheumatoid arthritis skos:exactMatch NCIT:C2884 Rheumatoid Arthritis semapv:UnspecifiedMatching MONDO:0008383 rheumatoid arthritis skos:exactMatch OMIM:180300 rheumatoid arthritis semapv:UnspecifiedMatching MONDO:0008383 rheumatoid arthritis skos:exactMatch SCTID:69896004 semapv:UnspecifiedMatching MONDO:0008383 rheumatoid arthritis skos:exactMatch UMLS:C0003873 semapv:UnspecifiedMatching MONDO:0008383 rheumatoid arthritis skos:exactMatch mesh:D001172 semapv:UnspecifiedMatching MONDO:0008384 rheumatoid nodulosis skos:exactMatch OMIM:180350 rheumatoid nodulosis semapv:UnspecifiedMatching MONDO:0008384 rheumatoid nodulosis skos:exactMatch SCTID:402426007 semapv:UnspecifiedMatching MONDO:0008384 rheumatoid nodulosis skos:exactMatch SCTID:402427003 semapv:UnspecifiedMatching MONDO:0008384 rheumatoid nodulosis skos:exactMatch UMLS:C0035450 semapv:UnspecifiedMatching MONDO:0008384 rheumatoid nodulosis skos:exactMatch mesh:D012218 semapv:UnspecifiedMatching MONDO:0008385 rhiny skos:exactMatch OMIM:180360 rhiny semapv:UnspecifiedMatching MONDO:0008385 rhiny skos:exactMatch mesh:C566708 semapv:UnspecifiedMatching MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:exactMatch DOID:0110120 Axenfeld-Rieger syndrome type 1 semapv:UnspecifiedMatching MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:exactMatch NCIT:C75015 Rieger Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:exactMatch OMIM:180500 axenfeld-rieger syndrome, iia 1 semapv:UnspecifiedMatching MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:exactMatch UMLS:C3714873 semapv:UnspecifiedMatching MONDO:0008387 ring dermoid of cornea skos:exactMatch DOID:0111548 ring dermoid of cornea semapv:UnspecifiedMatching MONDO:0008387 ring dermoid of cornea skos:exactMatch OMIM:180550 ring dermoid of cornea semapv:UnspecifiedMatching MONDO:0008387 ring dermoid of cornea skos:exactMatch Orphanet:91481 Ring dermoid of cornea semapv:UnspecifiedMatching MONDO:0008387 ring dermoid of cornea skos:exactMatch SCTID:723499000 semapv:UnspecifiedMatching MONDO:0008387 ring dermoid of cornea skos:exactMatch UMLS:C1867155 semapv:UnspecifiedMatching MONDO:0008387 ring dermoid of cornea skos:exactMatch mesh:C535684 semapv:UnspecifiedMatching MONDO:0008388 ringed hair disease skos:exactMatch OMIM:180600 ringed hair semapv:UnspecifiedMatching MONDO:0008388 ringed hair disease skos:exactMatch Orphanet:169 Ringed hair disease semapv:UnspecifiedMatching MONDO:0008388 ringed hair disease skos:exactMatch SCTID:21926007 semapv:UnspecifiedMatching MONDO:0008388 ringed hair disease skos:exactMatch UMLS:C0263489 semapv:UnspecifiedMatching MONDO:0008388 ringed hair disease skos:exactMatch mesh:C537187 semapv:UnspecifiedMatching MONDO:0008389 autosomal dominant Robinow syndrome skos:exactMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:UnspecifiedMatching MONDO:0008389 autosomal dominant Robinow syndrome skos:exactMatch SCTID:76520005 semapv:UnspecifiedMatching MONDO:0008389 autosomal dominant Robinow syndrome skos:exactMatch UMLS:C5200540 semapv:UnspecifiedMatching MONDO:0008390 Rombo syndrome skos:exactMatch OMIM:180730 rombo syndrome semapv:UnspecifiedMatching MONDO:0008390 Rombo syndrome skos:exactMatch Orphanet:3110 Rombo syndrome semapv:UnspecifiedMatching MONDO:0008390 Rombo syndrome skos:exactMatch SCTID:721904001 semapv:UnspecifiedMatching MONDO:0008390 Rombo syndrome skos:exactMatch UMLS:C1867147 semapv:UnspecifiedMatching MONDO:0008390 Rombo syndrome skos:exactMatch mesh:C535870 semapv:UnspecifiedMatching MONDO:0008391 Robinow-Sorauf syndrome skos:exactMatch OMIM:180750 robinow-sorauf syndrome semapv:UnspecifiedMatching MONDO:0008391 Robinow-Sorauf syndrome skos:exactMatch UMLS:C1867146 semapv:UnspecifiedMatching MONDO:0008391 Robinow-Sorauf syndrome skos:exactMatch mesh:C537183 semapv:UnspecifiedMatching MONDO:0008392 Roussy-Levy syndrome skos:exactMatch OMIM:180800 roussy-levy hereditary areflexic dystasia semapv:UnspecifiedMatching MONDO:0008392 Roussy-Levy syndrome skos:exactMatch Orphanet:3115 Roussy-Lévy syndrome semapv:UnspecifiedMatching MONDO:0008392 Roussy-Levy syndrome skos:exactMatch SCTID:45853006 semapv:UnspecifiedMatching MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:exactMatch NCIT:C153290 Rubinstein-Taybi Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:exactMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:UnspecifiedMatching MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:exactMatch Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations semapv:UnspecifiedMatching MONDO:0008394 Silver-Russell syndrome skos:exactMatch DOID:14681 Silver-Russell syndrome semapv:UnspecifiedMatching MONDO:0008394 Silver-Russell syndrome skos:exactMatch NCIT:C85068 Russell-Silver Syndrome semapv:UnspecifiedMatching MONDO:0008394 Silver-Russell syndrome skos:exactMatch OMIMPS:180860 semapv:UnspecifiedMatching MONDO:0008394 Silver-Russell syndrome skos:exactMatch Orphanet:813 Silver-Russell syndrome semapv:UnspecifiedMatching MONDO:0008394 Silver-Russell syndrome skos:exactMatch SCTID:15069006 semapv:UnspecifiedMatching MONDO:0008394 Silver-Russell syndrome skos:exactMatch UMLS:C0175693 semapv:UnspecifiedMatching MONDO:0008394 Silver-Russell syndrome skos:exactMatch mesh:D056730 semapv:UnspecifiedMatching MONDO:0008395 Ruvalcaba syndrome skos:exactMatch OMIM:180870 ruvalcaba syndrome semapv:UnspecifiedMatching MONDO:0008395 Ruvalcaba syndrome skos:exactMatch Orphanet:3121 Ruvalcaba syndrome semapv:UnspecifiedMatching MONDO:0008395 Ruvalcaba syndrome skos:exactMatch SCTID:3073006 semapv:UnspecifiedMatching MONDO:0008395 Ruvalcaba syndrome skos:exactMatch UMLS:C0265248 semapv:UnspecifiedMatching MONDO:0008395 Ruvalcaba syndrome skos:exactMatch mesh:C579395 semapv:UnspecifiedMatching MONDO:0008396 oculodental syndrome, Rutherfurd type skos:exactMatch OMIM:180900 rutherfurd syndrome semapv:UnspecifiedMatching MONDO:0008396 oculodental syndrome, Rutherfurd type skos:exactMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:UnspecifiedMatching MONDO:0008396 oculodental syndrome, Rutherfurd type skos:exactMatch SCTID:699754008 semapv:UnspecifiedMatching MONDO:0008396 oculodental syndrome, Rutherfurd type skos:exactMatch UMLS:C0796140 semapv:UnspecifiedMatching MONDO:0008396 oculodental syndrome, Rutherfurd type skos:exactMatch mesh:C537732 semapv:UnspecifiedMatching MONDO:0008397 aplasia of lacrimal and salivary glands skos:exactMatch DOID:0111549 aplasia of lacrimal and salivary glands semapv:UnspecifiedMatching MONDO:0008397 aplasia of lacrimal and salivary glands skos:exactMatch OMIM:180920 aplasia of lacrimal and salivary glands semapv:UnspecifiedMatching MONDO:0008397 aplasia of lacrimal and salivary glands skos:exactMatch Orphanet:86815 Aplasia of lacrimal and salivary glands semapv:UnspecifiedMatching MONDO:0008397 aplasia of lacrimal and salivary glands skos:exactMatch SCTID:715656004 semapv:UnspecifiedMatching MONDO:0008398 salivary substance, Clostridium botulinum type skos:exactMatch OMIM:180950 salivary substance, clostridium botulinum iia semapv:UnspecifiedMatching MONDO:0008398 salivary substance, Clostridium botulinum type skos:exactMatch UMLS:C1867056 semapv:UnspecifiedMatching MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:exactMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0008400 salivary duct calculi skos:exactMatch OMIM:181010 salivary duct calculi semapv:UnspecifiedMatching MONDO:0008400 salivary duct calculi skos:exactMatch mesh:D012465 semapv:UnspecifiedMatching MONDO:0008401 pleomorphic adenoma skos:exactMatch DOID:452 pleomorphic adenoma semapv:UnspecifiedMatching MONDO:0008401 pleomorphic adenoma skos:exactMatch NCIT:C8602 Pleomorphic Adenoma semapv:UnspecifiedMatching MONDO:0008401 pleomorphic adenoma skos:exactMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:UnspecifiedMatching MONDO:0008401 pleomorphic adenoma skos:exactMatch Orphanet:454821 Pleomorphic salivary gland adenoma semapv:UnspecifiedMatching MONDO:0008401 pleomorphic adenoma skos:exactMatch SCTID:447888006 semapv:UnspecifiedMatching MONDO:0008401 pleomorphic adenoma skos:exactMatch mesh:D008949 semapv:UnspecifiedMatching MONDO:0008402 cleft palate-large ears-small head syndrome skos:exactMatch OMIM:181180 say syndrome semapv:UnspecifiedMatching MONDO:0008402 cleft palate-large ears-small head syndrome skos:exactMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:UnspecifiedMatching MONDO:0008402 cleft palate-large ears-small head syndrome skos:exactMatch SCTID:763130006 semapv:UnspecifiedMatching MONDO:0008402 cleft palate-large ears-small head syndrome skos:exactMatch UMLS:C1867023 semapv:UnspecifiedMatching MONDO:0008402 cleft palate-large ears-small head syndrome skos:exactMatch mesh:C536621 semapv:UnspecifiedMatching MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:exactMatch OMIM:181250 scalp defects and postaxial polydactyly semapv:UnspecifiedMatching MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:exactMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:UnspecifiedMatching MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:exactMatch UMLS:C1867021 semapv:UnspecifiedMatching MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:exactMatch mesh:C536622 semapv:UnspecifiedMatching MONDO:0008404 scalp-ear-nipple syndrome skos:exactMatch DOID:0111550 scalp-ear-nipple syndrome semapv:UnspecifiedMatching MONDO:0008404 scalp-ear-nipple syndrome skos:exactMatch OMIM:181270 scalp-ear-nipple syndrome semapv:UnspecifiedMatching MONDO:0008404 scalp-ear-nipple syndrome skos:exactMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:UnspecifiedMatching MONDO:0008404 scalp-ear-nipple syndrome skos:exactMatch SCTID:721888002 semapv:UnspecifiedMatching MONDO:0008404 scalp-ear-nipple syndrome skos:exactMatch mesh:C536623 semapv:UnspecifiedMatching MONDO:0008405 obsolete scapula, contour of vertebral border of skos:exactMatch OMIM:181300 scapula, contour of vertebral border of semapv:UnspecifiedMatching MONDO:0008406 obsolete autosomal recessive Emery-Dreifuss muscular dystrophy skos:exactMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:UnspecifiedMatching MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:exactMatch DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type semapv:UnspecifiedMatching MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:exactMatch OMIM:181400 scapuloperoneal syndrome, neurogenic, kaeser iia semapv:UnspecifiedMatching MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:exactMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:UnspecifiedMatching MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:exactMatch UMLS:C1867005 semapv:UnspecifiedMatching MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:exactMatch mesh:C566695 semapv:UnspecifiedMatching MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:exactMatch DOID:0111552 scapuloperoneal spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:exactMatch OMIM:181405 scapuloperoneal spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:exactMatch Orphanet:431255 Scapuloperoneal spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:exactMatch SCTID:230248006 semapv:UnspecifiedMatching MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:exactMatch DOID:0111269 autosomal dominant hyaline body myopathy semapv:UnspecifiedMatching MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:exactMatch OMIM:608358 congenital myopathy 7a, myosin storage, autosomal dominant semapv:UnspecifiedMatching MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:exactMatch Orphanet:636965 Autosomal dominant myosin storage myopathy semapv:UnspecifiedMatching MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:exactMatch UMLS:C4759774 semapv:UnspecifiedMatching MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:exactMatch mesh:C564253 semapv:UnspecifiedMatching MONDO:0008410 Scheuermann disease skos:exactMatch DOID:13300 Scheuermann's disease semapv:UnspecifiedMatching MONDO:0008410 Scheuermann disease skos:exactMatch NCIT:C34999 Juvenile Osteochondrosis of Spine semapv:UnspecifiedMatching MONDO:0008410 Scheuermann disease skos:exactMatch OMIM:181440 scheuermann disease semapv:UnspecifiedMatching MONDO:0008410 Scheuermann disease skos:exactMatch SCTID:53406005 semapv:UnspecifiedMatching MONDO:0008410 Scheuermann disease skos:exactMatch UMLS:C0036310 semapv:UnspecifiedMatching MONDO:0008410 Scheuermann disease skos:exactMatch mesh:D012544 semapv:UnspecifiedMatching MONDO:0008411 ulnar-mammary syndrome skos:exactMatch DOID:0060614 ulnar-mammary syndrome semapv:UnspecifiedMatching MONDO:0008411 ulnar-mammary syndrome skos:exactMatch OMIM:181450 ulnar-mammary syndrome semapv:UnspecifiedMatching MONDO:0008411 ulnar-mammary syndrome skos:exactMatch Orphanet:3138 Ulnar-mammary syndrome semapv:UnspecifiedMatching MONDO:0008411 ulnar-mammary syndrome skos:exactMatch SCTID:700211007 semapv:UnspecifiedMatching MONDO:0008411 ulnar-mammary syndrome skos:exactMatch UMLS:C1866994 semapv:UnspecifiedMatching MONDO:0008411 ulnar-mammary syndrome skos:exactMatch mesh:C536937 semapv:UnspecifiedMatching MONDO:0008412 intestinal schistosomiasis skos:exactMatch DOID:0050597 intestinal schistosomiasis semapv:UnspecifiedMatching MONDO:0008412 intestinal schistosomiasis skos:exactMatch SCTID:240796008 semapv:UnspecifiedMatching MONDO:0008414 schizophrenia 1 skos:exactMatch DOID:0070077 schizophrenia 1 semapv:UnspecifiedMatching MONDO:0008414 schizophrenia 1 skos:exactMatch OMIM:181510 schizophrenia 1 semapv:UnspecifiedMatching MONDO:0008415 obsolete Scholte syndrome skos:exactMatch OMIM:181515 semapv:UnspecifiedMatching MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:exactMatch OMIM:181600 huriez syndrome semapv:UnspecifiedMatching MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:exactMatch Orphanet:384 Huriez syndrome semapv:UnspecifiedMatching MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:exactMatch SCTID:239076000 semapv:UnspecifiedMatching MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:exactMatch mesh:C537526 semapv:UnspecifiedMatching MONDO:0008417 sclerocornea, autosomal dominant skos:exactMatch OMIM:181700 sclerocornea, autosomal dominant semapv:UnspecifiedMatching MONDO:0008417 sclerocornea, autosomal dominant skos:exactMatch mesh:C566692 semapv:UnspecifiedMatching MONDO:0008418 scleroderma, familial progressive skos:exactMatch OMIM:181750 scleroderma, familial progressive semapv:UnspecifiedMatching MONDO:0008418 scleroderma, familial progressive skos:exactMatch UMLS:C1866983 semapv:UnspecifiedMatching MONDO:0008419 scoliosis, isolated, susceptibility to, 1 skos:exactMatch OMIM:181800 scoliosis, isolated, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0008420 seborrheic keratosis skos:exactMatch DOID:6498 seborrheic keratosis semapv:UnspecifiedMatching MONDO:0008420 seborrheic keratosis skos:exactMatch ICD10CM:L82 Seborrheic keratosis semapv:UnspecifiedMatching MONDO:0008420 seborrheic keratosis skos:exactMatch NCIT:C9006 Seborrheic Keratosis semapv:UnspecifiedMatching MONDO:0008420 seborrheic keratosis skos:exactMatch OMIM:182000 keratosis, seborrheic semapv:UnspecifiedMatching MONDO:0008420 seborrheic keratosis skos:exactMatch UMLS:C0022603 semapv:UnspecifiedMatching MONDO:0008420 seborrheic keratosis skos:exactMatch mesh:D017492 semapv:UnspecifiedMatching MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:exactMatch OMIM:182150 simosa craniofacial syndrome semapv:UnspecifiedMatching MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:exactMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:UnspecifiedMatching MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:exactMatch UMLS:C1866962 semapv:UnspecifiedMatching MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:exactMatch mesh:C537339 semapv:UnspecifiedMatching MONDO:0008422 autosomal dominant sideroblastic anemia skos:exactMatch DOID:0060335 autosomal dominant sideroblastic anemia 4 semapv:UnspecifiedMatching MONDO:0008422 autosomal dominant sideroblastic anemia skos:exactMatch OMIM:182170 anemia, sideroblastic, 4 semapv:UnspecifiedMatching MONDO:0008422 autosomal dominant sideroblastic anemia skos:exactMatch UMLS:C4225428 semapv:UnspecifiedMatching MONDO:0008422 autosomal dominant sideroblastic anemia skos:exactMatch mesh:C567160 semapv:UnspecifiedMatching MONDO:0008423 sinus node disease and myopia skos:exactMatch OMIM:182190 sinus node disease and myopia semapv:UnspecifiedMatching MONDO:0008423 sinus node disease and myopia skos:exactMatch UMLS:C1866960 semapv:UnspecifiedMatching MONDO:0008423 sinus node disease and myopia skos:exactMatch mesh:C566690 semapv:UnspecifiedMatching MONDO:0008424 sella turcica, bridged skos:exactMatch OMIM:182200 sella turcica, bridged semapv:UnspecifiedMatching MONDO:0008424 sella turcica, bridged skos:exactMatch mesh:C566689 semapv:UnspecifiedMatching MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:exactMatch OMIM:182210 shprintzen omphalocele syndrome semapv:UnspecifiedMatching MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:exactMatch Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type semapv:UnspecifiedMatching MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:exactMatch SCTID:716230005 semapv:UnspecifiedMatching MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:exactMatch UMLS:C1866958 semapv:UnspecifiedMatching MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:exactMatch mesh:C537329 semapv:UnspecifiedMatching MONDO:0008426 Shprintzen-Goldberg syndrome skos:exactMatch NCIT:C124840 Shprintzen-Goldberg Craniosynostosis Syndrome semapv:UnspecifiedMatching MONDO:0008426 Shprintzen-Goldberg syndrome skos:exactMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:UnspecifiedMatching MONDO:0008426 Shprintzen-Goldberg syndrome skos:exactMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:UnspecifiedMatching MONDO:0008426 Shprintzen-Goldberg syndrome skos:exactMatch SCTID:719069008 semapv:UnspecifiedMatching MONDO:0008426 Shprintzen-Goldberg syndrome skos:exactMatch UMLS:C1321551 semapv:UnspecifiedMatching MONDO:0008427 sister chromatid exchange, frequency of skos:exactMatch OMIM:182220 sister chromatid exchange, frequency of semapv:UnspecifiedMatching MONDO:0008428 septooptic dysplasia skos:exactMatch DOID:0060857 septooptic dysplasia semapv:UnspecifiedMatching MONDO:0008428 septooptic dysplasia skos:exactMatch NCIT:C85063 Septo-Optic Dysplasia semapv:UnspecifiedMatching MONDO:0008428 septooptic dysplasia skos:exactMatch OMIM:182230 septooptic dysplasia semapv:UnspecifiedMatching MONDO:0008428 septooptic dysplasia skos:exactMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:UnspecifiedMatching MONDO:0008428 septooptic dysplasia skos:exactMatch SCTID:7611002 semapv:UnspecifiedMatching MONDO:0008428 septooptic dysplasia skos:exactMatch UMLS:C0338503 semapv:UnspecifiedMatching MONDO:0008428 septooptic dysplasia skos:exactMatch mesh:D025962 semapv:UnspecifiedMatching MONDO:0008429 Singleton-Merten dysplasia skos:exactMatch OMIMPS:182250 semapv:UnspecifiedMatching MONDO:0008429 Singleton-Merten dysplasia skos:exactMatch Orphanet:85191 Singleton-Merten dysplasia semapv:UnspecifiedMatching MONDO:0008429 Singleton-Merten dysplasia skos:exactMatch SCTID:254114000 semapv:UnspecifiedMatching MONDO:0008429 Singleton-Merten dysplasia skos:exactMatch UMLS:C0432254 semapv:UnspecifiedMatching MONDO:0008429 Singleton-Merten dysplasia skos:exactMatch mesh:C537343 semapv:UnspecifiedMatching MONDO:0008430 skeletal dysplasia with delayed epiphyseal and carpal bone ossification skos:exactMatch OMIM:182255 skeletal dysplasia with delayed epiphyseal and carpal bone ossification semapv:UnspecifiedMatching MONDO:0008430 skeletal dysplasia with delayed epiphyseal and carpal bone ossification skos:exactMatch UMLS:C1866939 semapv:UnspecifiedMatching MONDO:0008430 skeletal dysplasia with delayed epiphyseal and carpal bone ossification skos:exactMatch mesh:C566687 semapv:UnspecifiedMatching MONDO:0008431 slipped femoral capital epiphyses skos:exactMatch OMIM:182260 slipped femoral capital epiphyses semapv:UnspecifiedMatching MONDO:0008431 slipped femoral capital epiphyses skos:exactMatch UMLS:C0149887 semapv:UnspecifiedMatching MONDO:0008431 slipped femoral capital epiphyses skos:exactMatch mesh:D060048 semapv:UnspecifiedMatching MONDO:0008432 obsolete ketone compounds, ability to smell skos:exactMatch OMIM:182270 ketone compounds, ability to smell semapv:UnspecifiedMatching MONDO:0008433 small cell lung carcinoma skos:exactMatch DOID:5409 lung small cell carcinoma semapv:UnspecifiedMatching MONDO:0008433 small cell lung carcinoma skos:exactMatch DOID:5411 lung oat cell carcinoma semapv:UnspecifiedMatching MONDO:0008433 small cell lung carcinoma skos:exactMatch NCIT:C4917 Lung Small Cell Carcinoma semapv:UnspecifiedMatching MONDO:0008433 small cell lung carcinoma skos:exactMatch OMIM:182280 small cell cancer of the lung semapv:UnspecifiedMatching MONDO:0008433 small cell lung carcinoma skos:exactMatch Orphanet:70573 Small cell lung cancer semapv:UnspecifiedMatching MONDO:0008433 small cell lung carcinoma skos:exactMatch SCTID:254632001 semapv:UnspecifiedMatching MONDO:0008433 small cell lung carcinoma skos:exactMatch UMLS:C0149925 semapv:UnspecifiedMatching MONDO:0008433 small cell lung carcinoma skos:exactMatch mesh:D055752 semapv:UnspecifiedMatching MONDO:0008434 Smith-Magenis syndrome skos:exactMatch DOID:0060768 Smith-Magenis syndrome semapv:UnspecifiedMatching MONDO:0008434 Smith-Magenis syndrome skos:exactMatch NCIT:C75469 Smith-Magenis Syndrome semapv:UnspecifiedMatching MONDO:0008434 Smith-Magenis syndrome skos:exactMatch OMIM:182290 smith-magenis syndrome semapv:UnspecifiedMatching MONDO:0008434 Smith-Magenis syndrome skos:exactMatch Orphanet:819 Smith-Magenis syndrome semapv:UnspecifiedMatching MONDO:0008434 Smith-Magenis syndrome skos:exactMatch SCTID:401315004 semapv:UnspecifiedMatching MONDO:0008434 Smith-Magenis syndrome skos:exactMatch UMLS:C0795864 semapv:UnspecifiedMatching MONDO:0008434 Smith-Magenis syndrome skos:exactMatch mesh:D058496 semapv:UnspecifiedMatching MONDO:0008435 Somatomedin, embryonic skos:exactMatch OMIM:182400 somatomedin, embryonic semapv:UnspecifiedMatching MONDO:0008436 Sneddon syndrome skos:exactMatch DOID:13096 Sneddon syndrome semapv:UnspecifiedMatching MONDO:0008436 Sneddon syndrome skos:exactMatch OMIM:182410 sneddon syndrome semapv:UnspecifiedMatching MONDO:0008436 Sneddon syndrome skos:exactMatch Orphanet:820 Sneddon syndrome semapv:UnspecifiedMatching MONDO:0008436 Sneddon syndrome skos:exactMatch SCTID:238776001 semapv:UnspecifiedMatching MONDO:0008436 Sneddon syndrome skos:exactMatch UMLS:C0282492 semapv:UnspecifiedMatching MONDO:0008436 Sneddon syndrome skos:exactMatch mesh:D018860 semapv:UnspecifiedMatching MONDO:0008437 hereditary spastic paraplegia 3A skos:exactMatch DOID:0110791 hereditary spastic paraplegia 3A semapv:UnspecifiedMatching MONDO:0008437 hereditary spastic paraplegia 3A skos:exactMatch NCIT:C142893 Spastic Paraplegia 3A semapv:UnspecifiedMatching MONDO:0008437 hereditary spastic paraplegia 3A skos:exactMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:UnspecifiedMatching MONDO:0008437 hereditary spastic paraplegia 3A skos:exactMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:UnspecifiedMatching MONDO:0008437 hereditary spastic paraplegia 3A skos:exactMatch UMLS:C2931355 semapv:UnspecifiedMatching MONDO:0008437 hereditary spastic paraplegia 3A skos:exactMatch mesh:C536864 semapv:UnspecifiedMatching MONDO:0008438 hereditary spastic paraplegia 4 skos:exactMatch DOID:0110792 hereditary spastic paraplegia 4 semapv:UnspecifiedMatching MONDO:0008438 hereditary spastic paraplegia 4 skos:exactMatch NCIT:C129981 Spastic Paraplegia 4 semapv:UnspecifiedMatching MONDO:0008438 hereditary spastic paraplegia 4 skos:exactMatch OMIM:182601 spastic paraplegia 4, autosomal dominant semapv:UnspecifiedMatching MONDO:0008438 hereditary spastic paraplegia 4 skos:exactMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:UnspecifiedMatching MONDO:0008438 hereditary spastic paraplegia 4 skos:exactMatch SCTID:723820001 semapv:UnspecifiedMatching MONDO:0008438 hereditary spastic paraplegia 4 skos:exactMatch UMLS:C1866855 semapv:UnspecifiedMatching MONDO:0008438 hereditary spastic paraplegia 4 skos:exactMatch mesh:C536865 semapv:UnspecifiedMatching MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:exactMatch OMIM:182610 spastic paraplegia, epilepsy, and mental retardation semapv:UnspecifiedMatching MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:exactMatch UMLS:C1866854 semapv:UnspecifiedMatching MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:exactMatch mesh:C536869 semapv:UnspecifiedMatching MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:exactMatch OMIM:182690 spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy semapv:UnspecifiedMatching MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:exactMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:UnspecifiedMatching MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:exactMatch UMLS:C1866853 semapv:UnspecifiedMatching MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:exactMatch mesh:C537937 semapv:UnspecifiedMatching MONDO:0008441 spastic paraplegia with associated extrapyramidal signs skos:exactMatch OMIM:182800 spastic paraplegia with associated extrapyramidal signs semapv:UnspecifiedMatching MONDO:0008441 spastic paraplegia with associated extrapyramidal signs skos:exactMatch UMLS:C1866852 semapv:UnspecifiedMatching MONDO:0008441 spastic paraplegia with associated extrapyramidal signs skos:exactMatch mesh:C566681 semapv:UnspecifiedMatching MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:exactMatch OMIM:182815 spastic paraplegia with neuropathy and poikiloderma semapv:UnspecifiedMatching MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:exactMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:UnspecifiedMatching MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:exactMatch UMLS:C1866851 semapv:UnspecifiedMatching MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:exactMatch mesh:C536870 semapv:UnspecifiedMatching MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:exactMatch OMIM:182820 spastic paraplegia with precocious puberty semapv:UnspecifiedMatching MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:exactMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:UnspecifiedMatching MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:exactMatch UMLS:C1866850 semapv:UnspecifiedMatching MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:exactMatch mesh:C536874 semapv:UnspecifiedMatching MONDO:0008444 spastic paraplegia, optic atrophy, and dementia skos:exactMatch OMIM:182830 spastic paraplegia, optic atrophy, and dementia semapv:UnspecifiedMatching MONDO:0008444 spastic paraplegia, optic atrophy, and dementia skos:exactMatch UMLS:C1866849 semapv:UnspecifiedMatching MONDO:0008444 spastic paraplegia, optic atrophy, and dementia skos:exactMatch mesh:C566679 semapv:UnspecifiedMatching MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:exactMatch OMIM:182875 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease semapv:UnspecifiedMatching MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:exactMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:UnspecifiedMatching MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:exactMatch SCTID:716199000 semapv:UnspecifiedMatching MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:exactMatch UMLS:C1866802 semapv:UnspecifiedMatching MONDO:0008446 sperm protamine P4 skos:exactMatch OMIM:182882 sperm protamine p4 semapv:UnspecifiedMatching MONDO:0008447 hereditary spherocytosis type 1 skos:exactMatch DOID:0110916 hereditary spherocytosis type 1 semapv:UnspecifiedMatching MONDO:0008447 hereditary spherocytosis type 1 skos:exactMatch OMIM:182900 spherocytosis, iia 1 semapv:UnspecifiedMatching MONDO:0008447 hereditary spherocytosis type 1 skos:exactMatch UMLS:C2674218 semapv:UnspecifiedMatching MONDO:0008449 spina bifida skos:exactMatch DOID:0080016 spina bifida semapv:UnspecifiedMatching MONDO:0008449 spina bifida skos:exactMatch NCIT:C101214 Spina Bifida semapv:UnspecifiedMatching MONDO:0008449 spina bifida skos:exactMatch SCTID:67531005 semapv:UnspecifiedMatching MONDO:0008449 spina bifida skos:exactMatch mesh:D016135 semapv:UnspecifiedMatching MONDO:0008450 spinal arachnoiditis skos:exactMatch NCIT:C50749 Spinal Arachnoiditis semapv:UnspecifiedMatching MONDO:0008450 spinal arachnoiditis skos:exactMatch OMIM:182950 spinal arachnoiditis semapv:UnspecifiedMatching MONDO:0008450 spinal arachnoiditis skos:exactMatch SCTID:426055002 semapv:UnspecifiedMatching MONDO:0008450 spinal arachnoiditis skos:exactMatch UMLS:C1710146 semapv:UnspecifiedMatching MONDO:0008450 spinal arachnoiditis skos:exactMatch mesh:C531624 semapv:UnspecifiedMatching MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch DOID:0111200 distal hereditary motor neuronopathy type 1 semapv:UnspecifiedMatching MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch NCIT:C132826 Distal Hereditary Motor Neuronopathy Type I semapv:UnspecifiedMatching MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch OMIM:182960 neuronopathy, distal hereditary motor, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:UnspecifiedMatching MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch UMLS:C1866784 semapv:UnspecifiedMatching MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch mesh:C566675 semapv:UnspecifiedMatching MONDO:0008452 spinal muscular atrophy, facioscapulohumeral type skos:exactMatch OMIM:182970 spinal muscular atrophy, facioscapulohumeral iia semapv:UnspecifiedMatching MONDO:0008452 spinal muscular atrophy, facioscapulohumeral type skos:exactMatch UMLS:C1866783 semapv:UnspecifiedMatching MONDO:0008452 spinal muscular atrophy, facioscapulohumeral type skos:exactMatch mesh:C566674 semapv:UnspecifiedMatching MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:exactMatch DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:exactMatch OMIM:182980 spinal muscular atrophy, late-onset, finkel iia semapv:UnspecifiedMatching MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:exactMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:exactMatch UMLS:C1854058 semapv:UnspecifiedMatching MONDO:0008454 spinal intradural arachnoid cysts skos:exactMatch OMIM:182990 spinal intradural arachnoid cysts semapv:UnspecifiedMatching MONDO:0008454 spinal intradural arachnoid cysts skos:exactMatch mesh:C536878 semapv:UnspecifiedMatching MONDO:0008455 spinal muscular atrophy, segmental skos:exactMatch OMIM:183020 spinal muscular atrophy, segmental semapv:UnspecifiedMatching MONDO:0008455 spinal muscular atrophy, segmental skos:exactMatch UMLS:C1866774 semapv:UnspecifiedMatching MONDO:0008455 spinal muscular atrophy, segmental skos:exactMatch mesh:C566670 semapv:UnspecifiedMatching MONDO:0008456 spinocerebellar ataxia with rigidity and peripheral neuropathy skos:exactMatch OMIM:183050 spinocerebellar ataxia with rigidity and peripheral neuropathy semapv:UnspecifiedMatching MONDO:0008456 spinocerebellar ataxia with rigidity and peripheral neuropathy skos:exactMatch UMLS:C1866770 semapv:UnspecifiedMatching MONDO:0008456 spinocerebellar ataxia with rigidity and peripheral neuropathy skos:exactMatch mesh:C566669 semapv:UnspecifiedMatching MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch DOID:0050956 spinocerebellar ataxia type 6 semapv:UnspecifiedMatching MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch NCIT:C142838 Spinocerebellar Ataxia Type 6 semapv:UnspecifiedMatching MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch OMIM:183086 spinocerebellar ataxia 6 semapv:UnspecifiedMatching MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:UnspecifiedMatching MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch SCTID:715752006 semapv:UnspecifiedMatching MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch UMLS:C0752124 semapv:UnspecifiedMatching MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch DOID:0050955 spinocerebellar ataxia type 2 semapv:UnspecifiedMatching MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch DOID:0060204 amyotrophic lateral sclerosis type 13 semapv:UnspecifiedMatching MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch NCIT:C148315 Spinocerebellar Ataxia Type 2 semapv:UnspecifiedMatching MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch OMIM:183090 spinocerebellar ataxia 2 semapv:UnspecifiedMatching MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:UnspecifiedMatching MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch SCTID:715751004 semapv:UnspecifiedMatching MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch UMLS:C0752121 semapv:UnspecifiedMatching MONDO:0008459 spinocerebellar atrophy with pupillary paralysis skos:exactMatch OMIM:183100 spinocerebellar atrophy with pupillary paralysis semapv:UnspecifiedMatching MONDO:0008459 spinocerebellar atrophy with pupillary paralysis skos:exactMatch UMLS:C1866746 semapv:UnspecifiedMatching MONDO:0008459 spinocerebellar atrophy with pupillary paralysis skos:exactMatch mesh:C566668 semapv:UnspecifiedMatching MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:exactMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:UnspecifiedMatching MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:exactMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:UnspecifiedMatching MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:exactMatch SCTID:726724005 semapv:UnspecifiedMatching MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:exactMatch UMLS:C1866745 semapv:UnspecifiedMatching MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:exactMatch mesh:C537318 semapv:UnspecifiedMatching MONDO:0008461 splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells skos:exactMatch OMIM:183350 splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t helper cells semapv:UnspecifiedMatching MONDO:0008461 splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells skos:exactMatch UMLS:C1866744 semapv:UnspecifiedMatching MONDO:0008461 splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells skos:exactMatch mesh:C566666 semapv:UnspecifiedMatching MONDO:0008462 split lower lip skos:exactMatch OMIM:183400 split lower 51p semapv:UnspecifiedMatching MONDO:0008463 split-hand and split-foot with hypodontia skos:exactMatch OMIM:183500 split-hand and split-foot with hypodontia semapv:UnspecifiedMatching MONDO:0008463 split-hand and split-foot with hypodontia skos:exactMatch UMLS:C1866742 semapv:UnspecifiedMatching MONDO:0008463 split-hand and split-foot with hypodontia skos:exactMatch mesh:C566665 semapv:UnspecifiedMatching MONDO:0008464 split hand-foot malformation 1 skos:exactMatch DOID:0090021 split hand-foot malformation 1 semapv:UnspecifiedMatching MONDO:0008464 split hand-foot malformation 1 skos:exactMatch NCIT:C75045 Split-Hand/Foot Malformation Type 1 semapv:UnspecifiedMatching MONDO:0008464 split hand-foot malformation 1 skos:exactMatch OMIM:183600 split-hand/foot malformation 1 semapv:UnspecifiedMatching MONDO:0008464 split hand-foot malformation 1 skos:exactMatch UMLS:C2931019 semapv:UnspecifiedMatching MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:exactMatch OMIM:183700 split-foot deformity with mandibulofacial dysostosis semapv:UnspecifiedMatching MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:exactMatch Orphanet:2439 Patterson-Stevenson-Fontaine syndrome semapv:UnspecifiedMatching MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:exactMatch SCTID:724069009 semapv:UnspecifiedMatching MONDO:0008466 Karsch-Neugebauer syndrome skos:exactMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:UnspecifiedMatching MONDO:0008466 Karsch-Neugebauer syndrome skos:exactMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:UnspecifiedMatching MONDO:0008466 Karsch-Neugebauer syndrome skos:exactMatch SCTID:722032005 semapv:UnspecifiedMatching MONDO:0008466 Karsch-Neugebauer syndrome skos:exactMatch UMLS:C1866740 semapv:UnspecifiedMatching MONDO:0008466 Karsch-Neugebauer syndrome skos:exactMatch mesh:C537319 semapv:UnspecifiedMatching MONDO:0008467 Czeizel-Losonci syndrome skos:exactMatch OMIM:183802 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects semapv:UnspecifiedMatching MONDO:0008467 Czeizel-Losonci syndrome skos:exactMatch Orphanet:2437 Czeizel-Losonci syndrome semapv:UnspecifiedMatching MONDO:0008467 Czeizel-Losonci syndrome skos:exactMatch UMLS:C1866739 semapv:UnspecifiedMatching MONDO:0008467 Czeizel-Losonci syndrome skos:exactMatch mesh:C566662 semapv:UnspecifiedMatching MONDO:0008468 spondyloarthropathy, susceptibility to, 2 skos:exactMatch DOID:0080604 ankylosing spondylitis 2 semapv:UnspecifiedMatching MONDO:0008468 spondyloarthropathy, susceptibility to, 2 skos:exactMatch OMIM:183840 spondyloarthropathy, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0008468 spondyloarthropathy, susceptibility to, 2 skos:exactMatch UMLS:C1866738 semapv:UnspecifiedMatching MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:exactMatch OMIM:183849 spondyloepimetaphyseal dysplasia with hypotrichosis semapv:UnspecifiedMatching MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:exactMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:UnspecifiedMatching MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:exactMatch UMLS:C1866728 semapv:UnspecifiedMatching MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:exactMatch mesh:C535783 semapv:UnspecifiedMatching MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy skos:exactMatch DOID:0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy semapv:UnspecifiedMatching MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy skos:exactMatch OMIM:183850 spondyloepiphyseal dysplasia with punctate corneal dystrophy semapv:UnspecifiedMatching MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy skos:exactMatch UMLS:C1866727 semapv:UnspecifiedMatching MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy skos:exactMatch mesh:C566660 semapv:UnspecifiedMatching MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:broadMatch ICD10CM:Q77.7 Spondyloepiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:exactMatch DOID:14789 spondyloepiphyseal dysplasia congenita semapv:UnspecifiedMatching MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:exactMatch OMIM:183900 spondyloepiphyseal dysplasia congenita semapv:UnspecifiedMatching MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:exactMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:UnspecifiedMatching MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:exactMatch SCTID:278713008 semapv:UnspecifiedMatching MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:exactMatch mesh:C535788 semapv:UnspecifiedMatching MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:exactMatch OMIM:184000 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness semapv:UnspecifiedMatching MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:exactMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:UnspecifiedMatching MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:exactMatch UMLS:C1866719 semapv:UnspecifiedMatching MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:exactMatch mesh:C566659 semapv:UnspecifiedMatching MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:exactMatch DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type semapv:UnspecifiedMatching MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:exactMatch OMIM:184095 spondyloepiphyseal dysplasia, maroteaux iia semapv:UnspecifiedMatching MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:exactMatch Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type semapv:UnspecifiedMatching MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:exactMatch SCTID:719204007 semapv:UnspecifiedMatching MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:exactMatch UMLS:C3159322 semapv:UnspecifiedMatching MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda semapv:UnspecifiedMatching MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch OMIM:184100 spondyloepiphyseal dysplasia tarda, autosomal dominant semapv:UnspecifiedMatching MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch UMLS:C1866717 semapv:UnspecifiedMatching MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch mesh:C566658 semapv:UnspecifiedMatching MONDO:0008475 spondylolisthesis skos:exactMatch DOID:6682 spondylolisthesis semapv:UnspecifiedMatching MONDO:0008475 spondylolisthesis skos:exactMatch NCIT:C35033 Spondylolisthesis semapv:UnspecifiedMatching MONDO:0008475 spondylolisthesis skos:exactMatch OMIM:184200 spondylolisthesis semapv:UnspecifiedMatching MONDO:0008475 spondylolisthesis skos:exactMatch SCTID:274152003 semapv:UnspecifiedMatching MONDO:0008475 spondylolisthesis skos:exactMatch UMLS:C0038016 semapv:UnspecifiedMatching MONDO:0008475 spondylolisthesis skos:exactMatch mesh:D013168 semapv:UnspecifiedMatching MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type semapv:UnspecifiedMatching MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:UnspecifiedMatching MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:UnspecifiedMatching MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch SCTID:702350003 semapv:UnspecifiedMatching MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch DOID:0111554 spondylometaphyseal dysplasia Kozlowski type semapv:UnspecifiedMatching MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch OMIM:184252 spondylometaphyseal dysplasia, kozlowski iia semapv:UnspecifiedMatching MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:UnspecifiedMatching MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch mesh:C535797 semapv:UnspecifiedMatching MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:UnspecifiedMatching MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch OMIM:184253 spondylometaphyseal dysplasia, algerian iia semapv:UnspecifiedMatching MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type semapv:UnspecifiedMatching MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch SCTID:719304005 semapv:UnspecifiedMatching MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch mesh:C535794 semapv:UnspecifiedMatching MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:UnspecifiedMatching MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch OMIM:184255 spondylometaphyseal dysplasia, corner fracture iia semapv:UnspecifiedMatching MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:UnspecifiedMatching MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch SCTID:254078005 semapv:UnspecifiedMatching MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch UMLS:C0432221 semapv:UnspecifiedMatching MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch mesh:C535793 semapv:UnspecifiedMatching MONDO:0008481 spondylosis, cervical skos:exactMatch OMIM:184300 spondylosis, cervical semapv:UnspecifiedMatching MONDO:0008481 spondylosis, cervical skos:exactMatch SCTID:387800004 semapv:UnspecifiedMatching MONDO:0008481 spondylosis, cervical skos:exactMatch UMLS:C1384641 semapv:UnspecifiedMatching MONDO:0008482 Sprengel deformity skos:exactMatch OMIM:184400 sprengel deformity semapv:UnspecifiedMatching MONDO:0008482 Sprengel deformity skos:exactMatch Orphanet:3181 Sprengel deformity semapv:UnspecifiedMatching MONDO:0008482 Sprengel deformity skos:exactMatch SCTID:79120002 semapv:UnspecifiedMatching MONDO:0008482 Sprengel deformity skos:exactMatch mesh:C535802 semapv:UnspecifiedMatching MONDO:0008483 stuttering, familial persistent, 1 skos:exactMatch OMIM:184450 stuttering, familial persistent, 1 semapv:UnspecifiedMatching MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:exactMatch OMIM:184460 stapes ankylosis with broad thumbs and toes semapv:UnspecifiedMatching MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:exactMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:UnspecifiedMatching MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:exactMatch SCTID:719305006 semapv:UnspecifiedMatching MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:exactMatch UMLS:C1866656 semapv:UnspecifiedMatching MONDO:0008485 sebocystomatosis skos:exactMatch DOID:0111556 steatocystoma multiplex semapv:UnspecifiedMatching MONDO:0008485 sebocystomatosis skos:exactMatch OMIM:184500 steatocystoma multiplex semapv:UnspecifiedMatching MONDO:0008485 sebocystomatosis skos:exactMatch Orphanet:841 Sebocystomatosis semapv:UnspecifiedMatching MONDO:0008485 sebocystomatosis skos:exactMatch SCTID:109433009 semapv:UnspecifiedMatching MONDO:0008485 sebocystomatosis skos:exactMatch UMLS:C0259771 semapv:UnspecifiedMatching MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:exactMatch OMIM:184510 steatocystoma multiplex with natal teeth semapv:UnspecifiedMatching MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:exactMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:UnspecifiedMatching MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:exactMatch UMLS:C1866650 semapv:UnspecifiedMatching MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:exactMatch mesh:C537487 semapv:UnspecifiedMatching MONDO:0008487 polycystic ovary syndrome skos:exactMatch DOID:11612 polycystic ovary syndrome semapv:UnspecifiedMatching MONDO:0008487 polycystic ovary syndrome skos:exactMatch NCIT:C26862 Polycystic Ovary Syndrome semapv:UnspecifiedMatching MONDO:0008487 polycystic ovary syndrome skos:exactMatch OMIM:184700 polycystic ovary syndrome 1 semapv:UnspecifiedMatching MONDO:0008487 polycystic ovary syndrome skos:exactMatch SCTID:69878008 semapv:UnspecifiedMatching MONDO:0008487 polycystic ovary syndrome skos:exactMatch UMLS:C0032460 semapv:UnspecifiedMatching MONDO:0008487 polycystic ovary syndrome skos:exactMatch mesh:D011085 semapv:UnspecifiedMatching MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:exactMatch OMIM:184705 steinfeld syndrome semapv:UnspecifiedMatching MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:exactMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:UnspecifiedMatching MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:exactMatch SCTID:716233007 semapv:UnspecifiedMatching MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:exactMatch UMLS:C1866649 semapv:UnspecifiedMatching MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:exactMatch mesh:C566655 semapv:UnspecifiedMatching MONDO:0008489 sternum, premature obliteration of sutures of skos:exactMatch OMIM:184800 sternum, premature obliteration of sutures of semapv:UnspecifiedMatching MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant semapv:UnspecifiedMatching MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch DOID:4258 Weissenbacher-Zweymuller syndrome semapv:UnspecifiedMatching MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch OMIM:184840 otospondylomegaepiphyseal dysplasia, autosomal dominant semapv:UnspecifiedMatching MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch SCTID:699313003 semapv:UnspecifiedMatching MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch mesh:C535776 semapv:UnspecifiedMatching MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch mesh:C537494 semapv:UnspecifiedMatching MONDO:0008491 stiff-person syndrome skos:exactMatch DOID:13366 Stiff-Person syndrome semapv:UnspecifiedMatching MONDO:0008491 stiff-person syndrome skos:exactMatch NCIT:C85170 Stiff Person Syndrome semapv:UnspecifiedMatching MONDO:0008491 stiff-person syndrome skos:exactMatch OMIM:184850 stiff-person syndrome semapv:UnspecifiedMatching MONDO:0008491 stiff-person syndrome skos:exactMatch Orphanet:3198 Stiff person spectrum disorder semapv:UnspecifiedMatching MONDO:0008491 stiff-person syndrome skos:exactMatch SCTID:5217008 semapv:UnspecifiedMatching MONDO:0008491 stiff-person syndrome skos:exactMatch UMLS:C0085292 semapv:UnspecifiedMatching MONDO:0008491 stiff-person syndrome skos:exactMatch mesh:D016750 semapv:UnspecifiedMatching MONDO:0008492 stiff skin syndrome skos:exactMatch DOID:0111561 stiff skin syndrome semapv:UnspecifiedMatching MONDO:0008492 stiff skin syndrome skos:exactMatch NCIT:C118636 Stiff Skin Syndrome semapv:UnspecifiedMatching MONDO:0008492 stiff skin syndrome skos:exactMatch OMIM:184900 stiff skin syndrome semapv:UnspecifiedMatching MONDO:0008492 stiff skin syndrome skos:exactMatch Orphanet:2833 Stiff skin syndrome semapv:UnspecifiedMatching MONDO:0008492 stiff skin syndrome skos:exactMatch SCTID:765187004 semapv:UnspecifiedMatching MONDO:0008492 stiff skin syndrome skos:exactMatch UMLS:C1861456 semapv:UnspecifiedMatching MONDO:0008492 stiff skin syndrome skos:exactMatch mesh:C566112 semapv:UnspecifiedMatching MONDO:0008493 overhydrated hereditary stomatocytosis skos:exactMatch DOID:0111562 overhydrated hereditary stomatocytosis semapv:UnspecifiedMatching MONDO:0008493 overhydrated hereditary stomatocytosis skos:exactMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:UnspecifiedMatching MONDO:0008493 overhydrated hereditary stomatocytosis skos:exactMatch Orphanet:3203 Overhydrated hereditary stomatocytosis semapv:UnspecifiedMatching MONDO:0008493 overhydrated hereditary stomatocytosis skos:exactMatch SCTID:722125003 semapv:UnspecifiedMatching MONDO:0008493 overhydrated hereditary stomatocytosis skos:exactMatch UMLS:C1861455 semapv:UnspecifiedMatching MONDO:0008493 overhydrated hereditary stomatocytosis skos:exactMatch mesh:C566111 semapv:UnspecifiedMatching MONDO:0008494 cryohydrocytosis skos:exactMatch OMIM:185020 cryohydrocytosis semapv:UnspecifiedMatching MONDO:0008494 cryohydrocytosis skos:exactMatch Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin semapv:UnspecifiedMatching MONDO:0008494 cryohydrocytosis skos:exactMatch UMLS:C1861453 semapv:UnspecifiedMatching MONDO:0008494 cryohydrocytosis skos:exactMatch mesh:C535827 semapv:UnspecifiedMatching MONDO:0008495 platelet storage pool deficiency skos:exactMatch DOID:2223 platelet storage pool deficiency semapv:UnspecifiedMatching MONDO:0008495 platelet storage pool deficiency skos:exactMatch OMIM:185050 storage pool platelet disease semapv:UnspecifiedMatching MONDO:0008495 platelet storage pool deficiency skos:exactMatch Orphanet:734 Alpha delta granule deficiency semapv:UnspecifiedMatching MONDO:0008495 platelet storage pool deficiency skos:exactMatch SCTID:234474009 semapv:UnspecifiedMatching MONDO:0008495 platelet storage pool deficiency skos:exactMatch mesh:D010981 semapv:UnspecifiedMatching MONDO:0008496 storm syndrome skos:exactMatch OMIM:185069 storm syndrome semapv:UnspecifiedMatching MONDO:0008496 storm syndrome skos:exactMatch UMLS:C1861452 semapv:UnspecifiedMatching MONDO:0008496 storm syndrome skos:exactMatch mesh:C566109 semapv:UnspecifiedMatching MONDO:0008497 Stormorken syndrome skos:exactMatch DOID:0060354 Stormorken syndrome semapv:UnspecifiedMatching MONDO:0008497 Stormorken syndrome skos:exactMatch OMIM:185070 stormorken syndrome semapv:UnspecifiedMatching MONDO:0008497 Stormorken syndrome skos:exactMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:UnspecifiedMatching MONDO:0008497 Stormorken syndrome skos:exactMatch SCTID:711407000 semapv:UnspecifiedMatching MONDO:0008497 Stormorken syndrome skos:exactMatch UMLS:C1861451 semapv:UnspecifiedMatching MONDO:0008497 Stormorken syndrome skos:exactMatch mesh:C566108 semapv:UnspecifiedMatching MONDO:0008498 strabismus, susceptibility to skos:exactMatch OMIM:185100 strabismus, susceptibility to semapv:UnspecifiedMatching MONDO:0008498 strabismus, susceptibility to skos:exactMatch UMLS:C1861449 semapv:UnspecifiedMatching MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:exactMatch OMIM:185120 stratton-parker syndrome semapv:UnspecifiedMatching MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:exactMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:UnspecifiedMatching MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:exactMatch SCTID:763631006 semapv:UnspecifiedMatching MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:exactMatch UMLS:C1861448 semapv:UnspecifiedMatching MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:exactMatch mesh:C566105 semapv:UnspecifiedMatching MONDO:0008500 striae distensae, familial skos:exactMatch OMIM:185200 striae distensae, familial semapv:UnspecifiedMatching MONDO:0008500 striae distensae, familial skos:exactMatch UMLS:C1861447 semapv:UnspecifiedMatching MONDO:0008500 striae distensae, familial skos:exactMatch mesh:C566104 semapv:UnspecifiedMatching MONDO:0008501 Sturge-Weber syndrome skos:exactMatch DOID:0111563 Sturge-Weber syndrome semapv:UnspecifiedMatching MONDO:0008501 Sturge-Weber syndrome skos:exactMatch NCIT:C3391 Sturge-Weber Syndrome semapv:UnspecifiedMatching MONDO:0008501 Sturge-Weber syndrome skos:exactMatch OMIM:185300 sturge-weber syndrome semapv:UnspecifiedMatching MONDO:0008501 Sturge-Weber syndrome skos:exactMatch Orphanet:3205 Sturge-Weber syndrome semapv:UnspecifiedMatching MONDO:0008501 Sturge-Weber syndrome skos:exactMatch SCTID:19886006 semapv:UnspecifiedMatching MONDO:0008501 Sturge-Weber syndrome skos:exactMatch UMLS:C0038505 semapv:UnspecifiedMatching MONDO:0008501 Sturge-Weber syndrome skos:exactMatch mesh:D013341 semapv:UnspecifiedMatching MONDO:0008502 sulfhemoglobinemia, congenital skos:exactMatch OMIM:185460 sulfhemoglobinemia, congenital semapv:UnspecifiedMatching MONDO:0008502 sulfhemoglobinemia, congenital skos:exactMatch UMLS:C1861437 semapv:UnspecifiedMatching MONDO:0008502 sulfhemoglobinemia, congenital skos:exactMatch mesh:C566102 semapv:UnspecifiedMatching MONDO:0008503 Worster-Drought syndrome skos:exactMatch OMIM:185480 suprabulbar paresis, congenital semapv:UnspecifiedMatching MONDO:0008503 Worster-Drought syndrome skos:exactMatch Orphanet:3465 Worster-Drought syndrome semapv:UnspecifiedMatching MONDO:0008503 Worster-Drought syndrome skos:exactMatch SCTID:716335003 semapv:UnspecifiedMatching MONDO:0008503 Worster-Drought syndrome skos:exactMatch UMLS:C0796204 semapv:UnspecifiedMatching MONDO:0008503 Worster-Drought syndrome skos:exactMatch mesh:C536747 semapv:UnspecifiedMatching MONDO:0008504 supravalvular aortic stenosis skos:exactMatch DOID:1929 supravalvular aortic stenosis semapv:UnspecifiedMatching MONDO:0008504 supravalvular aortic stenosis skos:exactMatch NCIT:C85176 Supravalvular Aortic Stenosis semapv:UnspecifiedMatching MONDO:0008504 supravalvular aortic stenosis skos:exactMatch OMIM:185500 supravalvular aortic stenosis semapv:UnspecifiedMatching MONDO:0008504 supravalvular aortic stenosis skos:exactMatch Orphanet:3193 Supravalvular aortic stenosis semapv:UnspecifiedMatching MONDO:0008504 supravalvular aortic stenosis skos:exactMatch SCTID:268185002 semapv:UnspecifiedMatching MONDO:0008504 supravalvular aortic stenosis skos:exactMatch UMLS:C0003499 semapv:UnspecifiedMatching MONDO:0008505 surface antigen, glycoprotein 75 skos:exactMatch OMIM:185540 surface antigen, glycoprotein 75 semapv:UnspecifiedMatching MONDO:0008506 symphalangism of toes skos:exactMatch OMIM:185600 symphalangism of toes semapv:UnspecifiedMatching MONDO:0008506 symphalangism of toes skos:exactMatch UMLS:C1861418 semapv:UnspecifiedMatching MONDO:0008506 symphalangism of toes skos:exactMatch mesh:C566101 semapv:UnspecifiedMatching MONDO:0008507 surface polypeptides, anonymous skos:exactMatch OMIM:185610 surface polypeptides, anonymous semapv:UnspecifiedMatching MONDO:0008508 symphalangism, C. S. Lewis type skos:exactMatch OMIM:185650 symphalangism, c. s. lewis iia semapv:UnspecifiedMatching MONDO:0008508 symphalangism, C. S. Lewis type skos:exactMatch UMLS:C1861404 semapv:UnspecifiedMatching MONDO:0008508 symphalangism, C. S. Lewis type skos:exactMatch mesh:C566100 semapv:UnspecifiedMatching MONDO:0008509 distal symphalangism skos:exactMatch OMIM:185700 symphalangism, distal semapv:UnspecifiedMatching MONDO:0008509 distal symphalangism skos:exactMatch Orphanet:3248 Distal symphalangism semapv:UnspecifiedMatching MONDO:0008509 distal symphalangism skos:exactMatch UMLS:C1861401 semapv:UnspecifiedMatching MONDO:0008509 distal symphalangism skos:exactMatch mesh:C566099 semapv:UnspecifiedMatching MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:exactMatch OMIM:185750 symphalangism with multiple anomalies of hands and feet semapv:UnspecifiedMatching MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:exactMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:UnspecifiedMatching MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:exactMatch SCTID:732955001 semapv:UnspecifiedMatching MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:exactMatch UMLS:C1861391 semapv:UnspecifiedMatching MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:exactMatch mesh:C566098 semapv:UnspecifiedMatching MONDO:0008511 proximal symphalangism skos:exactMatch DOID:0050788 proximal symphalangism semapv:UnspecifiedMatching MONDO:0008511 proximal symphalangism skos:exactMatch OMIMPS:185800 semapv:UnspecifiedMatching MONDO:0008511 proximal symphalangism skos:exactMatch Orphanet:3250 Proximal symphalangism semapv:UnspecifiedMatching MONDO:0008511 proximal symphalangism skos:exactMatch UMLS:C1861385 semapv:UnspecifiedMatching MONDO:0008511 proximal symphalangism skos:exactMatch mesh:C536223 semapv:UnspecifiedMatching MONDO:0008512 syndactyly type 1 skos:exactMatch DOID:0111816 syndactyly type 1 semapv:UnspecifiedMatching MONDO:0008512 syndactyly type 1 skos:exactMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:UnspecifiedMatching MONDO:0008512 syndactyly type 1 skos:exactMatch Orphanet:93402 Syndactyly type 1 semapv:UnspecifiedMatching MONDO:0008512 syndactyly type 1 skos:exactMatch SCTID:715723008 semapv:UnspecifiedMatching MONDO:0008512 syndactyly type 1 skos:exactMatch UMLS:C1861380 semapv:UnspecifiedMatching MONDO:0008513 synpolydactyly type 1 skos:exactMatch OMIM:186000 synpolydactyly 1 semapv:UnspecifiedMatching MONDO:0008513 synpolydactyly type 1 skos:exactMatch Orphanet:295195 Synpolydactyly type 1 semapv:UnspecifiedMatching MONDO:0008513 synpolydactyly type 1 skos:exactMatch UMLS:C5574994 semapv:UnspecifiedMatching MONDO:0008514 syndactyly type 3 skos:exactMatch DOID:0111817 syndactyly type 3 semapv:UnspecifiedMatching MONDO:0008514 syndactyly type 3 skos:exactMatch OMIM:186100 syndactyly, iia 3 semapv:UnspecifiedMatching MONDO:0008514 syndactyly type 3 skos:exactMatch Orphanet:93404 Syndactyly type 3 semapv:UnspecifiedMatching MONDO:0008514 syndactyly type 3 skos:exactMatch SCTID:715725001 semapv:UnspecifiedMatching MONDO:0008514 syndactyly type 3 skos:exactMatch UMLS:C1861366 semapv:UnspecifiedMatching MONDO:0008514 syndactyly type 3 skos:exactMatch mesh:C538154 semapv:UnspecifiedMatching MONDO:0008515 syndactyly type 4 skos:exactMatch DOID:0111818 syndactyly type 4 semapv:UnspecifiedMatching MONDO:0008515 syndactyly type 4 skos:exactMatch OMIM:186200 syndactyly, iia 4 semapv:UnspecifiedMatching MONDO:0008515 syndactyly type 4 skos:exactMatch Orphanet:93405 Syndactyly type 4 semapv:UnspecifiedMatching MONDO:0008515 syndactyly type 4 skos:exactMatch SCTID:719158007 semapv:UnspecifiedMatching MONDO:0008515 syndactyly type 4 skos:exactMatch UMLS:C1861355 semapv:UnspecifiedMatching MONDO:0008515 syndactyly type 4 skos:exactMatch mesh:C566092 semapv:UnspecifiedMatching MONDO:0008516 syndactyly type 5 skos:exactMatch DOID:0111819 syndactyly type 5 semapv:UnspecifiedMatching MONDO:0008516 syndactyly type 5 skos:exactMatch OMIM:186300 syndactyly, iia 5 semapv:UnspecifiedMatching MONDO:0008516 syndactyly type 5 skos:exactMatch Orphanet:93406 Syndactyly type 5 semapv:UnspecifiedMatching MONDO:0008516 syndactyly type 5 skos:exactMatch SCTID:719159004 semapv:UnspecifiedMatching MONDO:0008516 syndactyly type 5 skos:exactMatch mesh:C538155 semapv:UnspecifiedMatching MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:exactMatch OMIM:186350 syndactyly-polydactyly-earlobe syndrome semapv:UnspecifiedMatching MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:exactMatch Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome semapv:UnspecifiedMatching MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:exactMatch UMLS:C1861347 semapv:UnspecifiedMatching MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:exactMatch mesh:C566091 semapv:UnspecifiedMatching MONDO:0008518 calcaneonavicular coalition skos:exactMatch DOID:14762 calcaneonavicular coalition semapv:UnspecifiedMatching MONDO:0008518 calcaneonavicular coalition skos:exactMatch OMIM:186400 synostoses, tarsal, carpal, and digital semapv:UnspecifiedMatching MONDO:0008518 calcaneonavicular coalition skos:exactMatch SCTID:62628008 semapv:UnspecifiedMatching MONDO:0008518 calcaneonavicular coalition skos:exactMatch UMLS:C1876184 semapv:UnspecifiedMatching MONDO:0008518 calcaneonavicular coalition skos:exactMatch mesh:C538156 semapv:UnspecifiedMatching MONDO:0008519 multiple synostoses syndrome 1 skos:exactMatch DOID:0081317 multiple synostoses syndrome 1 semapv:UnspecifiedMatching MONDO:0008519 multiple synostoses syndrome 1 skos:exactMatch OMIM:186500 multiple synostoses syndrome 1 semapv:UnspecifiedMatching MONDO:0008519 multiple synostoses syndrome 1 skos:exactMatch UMLS:C0342282 semapv:UnspecifiedMatching MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:exactMatch OMIM:186550 liebenberg syndrome semapv:UnspecifiedMatching MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:exactMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:UnspecifiedMatching MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:exactMatch SCTID:764437006 semapv:UnspecifiedMatching MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:exactMatch UMLS:C1861313 semapv:UnspecifiedMatching MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:exactMatch mesh:C566090 semapv:UnspecifiedMatching MONDO:0008521 tarsal-carpal coalition syndrome skos:exactMatch DOID:0050789 tarsal-carpal coalition syndrome semapv:UnspecifiedMatching MONDO:0008521 tarsal-carpal coalition syndrome skos:exactMatch OMIM:186570 tarsal-carpal coalition syndrome semapv:UnspecifiedMatching MONDO:0008521 tarsal-carpal coalition syndrome skos:exactMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:UnspecifiedMatching MONDO:0008521 tarsal-carpal coalition syndrome skos:exactMatch SCTID:702312009 semapv:UnspecifiedMatching MONDO:0008521 tarsal-carpal coalition syndrome skos:exactMatch UMLS:C1861305 semapv:UnspecifiedMatching MONDO:0008522 synovial chondromatosis, familial, with dwarfism skos:exactMatch OMIM:186575 synovial chondromatosis, familial, with dwarfism semapv:UnspecifiedMatching MONDO:0008522 synovial chondromatosis, familial, with dwarfism skos:exactMatch UMLS:C1861304 semapv:UnspecifiedMatching MONDO:0008522 synovial chondromatosis, familial, with dwarfism skos:exactMatch mesh:C566087 semapv:UnspecifiedMatching MONDO:0008523 Blau syndrome skos:exactMatch DOID:0050678 Blau syndrome semapv:UnspecifiedMatching MONDO:0008523 Blau syndrome skos:exactMatch NCIT:C116794 Blau Syndrome semapv:UnspecifiedMatching MONDO:0008523 Blau syndrome skos:exactMatch OMIM:186580 blau syndrome semapv:UnspecifiedMatching MONDO:0008523 Blau syndrome skos:exactMatch Orphanet:90340 Blau syndrome semapv:UnspecifiedMatching MONDO:0008523 Blau syndrome skos:exactMatch SCTID:699861000 semapv:UnspecifiedMatching MONDO:0008523 Blau syndrome skos:exactMatch UMLS:C5201146 semapv:UnspecifiedMatching MONDO:0008523 Blau syndrome skos:exactMatch mesh:C538157 semapv:UnspecifiedMatching MONDO:0008524 syringomas, multiple skos:exactMatch OMIM:186600 syringomas, multiple semapv:UnspecifiedMatching MONDO:0008524 syringomas, multiple skos:exactMatch UMLS:C1861302 semapv:UnspecifiedMatching MONDO:0008524 syringomas, multiple skos:exactMatch mesh:C566085 semapv:UnspecifiedMatching MONDO:0008525 syringomyelia, isolated skos:exactMatch OMIM:186700 syringomyelia, noncommunicating isolated semapv:UnspecifiedMatching MONDO:0008525 syringomyelia, isolated skos:exactMatch mesh:C566084 semapv:UnspecifiedMatching MONDO:0008526 talonavicular coalition skos:exactMatch OMIM:186750 talonavicular coalition semapv:UnspecifiedMatching MONDO:0008526 talonavicular coalition skos:exactMatch mesh:C536895 semapv:UnspecifiedMatching MONDO:0008527 tarsal coalition skos:exactMatch OMIM:186850 tarsal coalition semapv:UnspecifiedMatching MONDO:0008527 tarsal coalition skos:exactMatch SCTID:27173008 semapv:UnspecifiedMatching MONDO:0008527 tarsal coalition skos:exactMatch mesh:D000070604 semapv:UnspecifiedMatching MONDO:0008528 tear protein, anodal skos:exactMatch OMIM:186890 tear protein, anodal semapv:UnspecifiedMatching MONDO:0008528 tear protein, anodal skos:exactMatch UMLS:C1861283 semapv:UnspecifiedMatching MONDO:0008529 T-cell Subgroups, non-HLA-linked skos:exactMatch OMIM:186950 t-cell subgroups, non-hla-linked semapv:UnspecifiedMatching MONDO:0008530 teeth, odd shapes of skos:exactMatch OMIM:187000 teeth, odd shapes of semapv:UnspecifiedMatching MONDO:0008530 teeth, odd shapes of skos:exactMatch UMLS:C1861274 semapv:UnspecifiedMatching MONDO:0008530 teeth, odd shapes of skos:exactMatch mesh:C566076 semapv:UnspecifiedMatching MONDO:0008531 obsolete T-complex locus TCP10B skos:exactMatch OMIM:187030 t-complex locus tcp10b semapv:UnspecifiedMatching MONDO:0008532 teeth present at birth skos:exactMatch OMIM:187050 teeth present at birth semapv:UnspecifiedMatching MONDO:0008532 teeth present at birth skos:exactMatch SCTID:21995002 semapv:UnspecifiedMatching MONDO:0008533 teeth, supernumerary skos:exactMatch ICD10CM:K00.1 Supernumerary teeth semapv:UnspecifiedMatching MONDO:0008533 teeth, supernumerary skos:exactMatch OMIM:187100 teeth, supernumerary semapv:UnspecifiedMatching MONDO:0008533 teeth, supernumerary skos:exactMatch SCTID:8666004 semapv:UnspecifiedMatching MONDO:0008533 teeth, supernumerary skos:exactMatch mesh:D014096 semapv:UnspecifiedMatching MONDO:0008534 generalized essential telangiectasia skos:exactMatch OMIM:187260 telangiectasia, hereditary benign semapv:UnspecifiedMatching MONDO:0008534 generalized essential telangiectasia skos:exactMatch Orphanet:280774 Generalized essential telangiectasia semapv:UnspecifiedMatching MONDO:0008534 generalized essential telangiectasia skos:exactMatch SCTID:238763007 semapv:UnspecifiedMatching MONDO:0008534 generalized essential telangiectasia skos:exactMatch UMLS:C0406502 semapv:UnspecifiedMatching MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:exactMatch OMIM:187300 telangiectasia, hereditary hemorrhagic, iia 1 semapv:UnspecifiedMatching MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:exactMatch UMLS:C4551861 semapv:UnspecifiedMatching MONDO:0008536 temperature-sensitive lethal mutation skos:exactMatch OMIM:187340 temperature-sensitive lethal mutation semapv:UnspecifiedMatching MONDO:0008537 telecanthus skos:exactMatch OMIM:187350 telecanthus semapv:UnspecifiedMatching MONDO:0008537 telecanthus skos:exactMatch Orphanet:98575 Syndromic telecanthus semapv:UnspecifiedMatching MONDO:0008537 telecanthus skos:exactMatch mesh:C562941 semapv:UnspecifiedMatching MONDO:0008538 temporal arteritis skos:exactMatch DOID:13375 temporal arteritis semapv:UnspecifiedMatching MONDO:0008538 temporal arteritis skos:exactMatch NCIT:C35065 Temporal Arteritis semapv:UnspecifiedMatching MONDO:0008538 temporal arteritis skos:exactMatch OMIM:187360 temporal arteritis semapv:UnspecifiedMatching MONDO:0008538 temporal arteritis skos:exactMatch Orphanet:397 Giant cell arteritis semapv:UnspecifiedMatching MONDO:0008538 temporal arteritis skos:exactMatch SCTID:400130008 semapv:UnspecifiedMatching MONDO:0008538 temporal arteritis skos:exactMatch UMLS:C1956391 semapv:UnspecifiedMatching MONDO:0008540 extensor tendons of finger anomalies skos:exactMatch OMIM:187390 tendons, extensor, of fingers, anomalous insertion of semapv:UnspecifiedMatching MONDO:0008540 extensor tendons of finger anomalies skos:exactMatch Orphanet:3294 Extensor tendons of finger anomalies semapv:UnspecifiedMatching MONDO:0008540 extensor tendons of finger anomalies skos:exactMatch UMLS:C1861237 semapv:UnspecifiedMatching MONDO:0008540 extensor tendons of finger anomalies skos:exactMatch mesh:C566068 semapv:UnspecifiedMatching MONDO:0008541 spermatic cord torsion skos:exactMatch DOID:11996 spermatic cord torsion semapv:UnspecifiedMatching MONDO:0008541 spermatic cord torsion skos:exactMatch NCIT:C26885 Testicular Torsion semapv:UnspecifiedMatching MONDO:0008541 spermatic cord torsion skos:exactMatch OMIM:187400 testicular torsion semapv:UnspecifiedMatching MONDO:0008541 spermatic cord torsion skos:exactMatch SCTID:81996005 semapv:UnspecifiedMatching MONDO:0008541 spermatic cord torsion skos:exactMatch UMLS:C0037856 semapv:UnspecifiedMatching MONDO:0008541 spermatic cord torsion skos:exactMatch mesh:D013086 semapv:UnspecifiedMatching MONDO:0008542 tetralogy of fallot skos:exactMatch DOID:6419 tetralogy of Fallot semapv:UnspecifiedMatching MONDO:0008542 tetralogy of fallot skos:exactMatch ICD10CM:Q21.3 Tetralogy of Fallot semapv:UnspecifiedMatching MONDO:0008542 tetralogy of fallot skos:exactMatch NCIT:C84505 Tetralogy of Fallot semapv:UnspecifiedMatching MONDO:0008542 tetralogy of fallot skos:exactMatch OMIM:187500 tetralogy of fallot semapv:UnspecifiedMatching MONDO:0008542 tetralogy of fallot skos:exactMatch Orphanet:3303 Tetralogy of Fallot semapv:UnspecifiedMatching MONDO:0008542 tetralogy of fallot skos:exactMatch SCTID:86299006 semapv:UnspecifiedMatching MONDO:0008542 tetralogy of fallot skos:exactMatch UMLS:C0039685 semapv:UnspecifiedMatching MONDO:0008542 tetralogy of fallot skos:exactMatch mesh:D013771 semapv:UnspecifiedMatching MONDO:0008543 tetralogy of fallot and glaucoma skos:exactMatch OMIM:187501 tetralogy of fallot and glaucoma semapv:UnspecifiedMatching MONDO:0008543 tetralogy of fallot and glaucoma skos:exactMatch UMLS:C1861234 semapv:UnspecifiedMatching MONDO:0008543 tetralogy of fallot and glaucoma skos:exactMatch mesh:C536501 semapv:UnspecifiedMatching MONDO:0008544 tetramelic monodactyly skos:exactMatch OMIM:187510 tetramelic monodactyly semapv:UnspecifiedMatching MONDO:0008544 tetramelic monodactyly skos:exactMatch Orphanet:2564 Tetramelic monodactyly semapv:UnspecifiedMatching MONDO:0008544 tetramelic monodactyly skos:exactMatch UMLS:C1861233 semapv:UnspecifiedMatching MONDO:0008544 tetramelic monodactyly skos:exactMatch mesh:C566066 semapv:UnspecifiedMatching MONDO:0008545 thalassemia, beta+, silent allele skos:exactMatch OMIM:187550 thalassemia, beta+, silent allele semapv:UnspecifiedMatching MONDO:0008545 thalassemia, beta+, silent allele skos:exactMatch UMLS:C1861232 semapv:UnspecifiedMatching MONDO:0008545 thalassemia, beta+, silent allele skos:exactMatch mesh:C566065 semapv:UnspecifiedMatching MONDO:0008546 thanatophoric dysplasia type 1 skos:exactMatch NCIT:C98583 Type 1 Thanatophoric Dysplasia semapv:UnspecifiedMatching MONDO:0008546 thanatophoric dysplasia type 1 skos:exactMatch OMIM:187600 thanatophoric dysplasia, iia 1 semapv:UnspecifiedMatching MONDO:0008546 thanatophoric dysplasia type 1 skos:exactMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:UnspecifiedMatching MONDO:0008546 thanatophoric dysplasia type 1 skos:exactMatch UMLS:C1868678 semapv:UnspecifiedMatching MONDO:0008547 thanatophoric dysplasia type 2 skos:exactMatch NCIT:C98584 Type 2 Thanatophoric Dysplasia semapv:UnspecifiedMatching MONDO:0008547 thanatophoric dysplasia type 2 skos:exactMatch OMIM:187601 thanatophoric dysplasia, iia 2 semapv:UnspecifiedMatching MONDO:0008547 thanatophoric dysplasia type 2 skos:exactMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:UnspecifiedMatching MONDO:0008547 thanatophoric dysplasia type 2 skos:exactMatch SCTID:389158007 semapv:UnspecifiedMatching MONDO:0008547 thanatophoric dysplasia type 2 skos:exactMatch UMLS:C1300257 semapv:UnspecifiedMatching MONDO:0008547 thanatophoric dysplasia type 2 skos:exactMatch mesh:C536508 semapv:UnspecifiedMatching MONDO:0008548 obsolete theophylline Biotransformation skos:exactMatch OMIM:187650 theophylline biotransformation semapv:UnspecifiedMatching MONDO:0008548 obsolete theophylline Biotransformation skos:exactMatch UMLS:C1861211 semapv:UnspecifiedMatching MONDO:0008549 thoracic dysostosis, isolated skos:exactMatch OMIM:187750 thoracic dysostosis, isolated semapv:UnspecifiedMatching MONDO:0008549 thoracic dysostosis, isolated skos:exactMatch UMLS:C1861204 semapv:UnspecifiedMatching MONDO:0008549 thoracic dysostosis, isolated skos:exactMatch mesh:C566063 semapv:UnspecifiedMatching MONDO:0008551 thoracolaryngopelvic dysplasia skos:exactMatch OMIM:187760 thoracolaryngopelvic dysplasia semapv:UnspecifiedMatching MONDO:0008551 thoracolaryngopelvic dysplasia skos:exactMatch OMIM:187770 thoracopelvic dysostosis semapv:UnspecifiedMatching MONDO:0008551 thoracolaryngopelvic dysplasia skos:exactMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:UnspecifiedMatching MONDO:0008551 thoracolaryngopelvic dysplasia skos:exactMatch SCTID:723556008 semapv:UnspecifiedMatching MONDO:0008551 thoracolaryngopelvic dysplasia skos:exactMatch UMLS:C1861197 semapv:UnspecifiedMatching MONDO:0008551 thoracolaryngopelvic dysplasia skos:exactMatch mesh:C536517 semapv:UnspecifiedMatching MONDO:0008552 platelet-type bleeding disorder 16 skos:exactMatch DOID:0060691 platelet-type bleeding disorder 16 semapv:UnspecifiedMatching MONDO:0008552 platelet-type bleeding disorder 16 skos:exactMatch OMIM:187800 bleeding disorder, platelet-type, 16 semapv:UnspecifiedMatching MONDO:0008552 platelet-type bleeding disorder 16 skos:exactMatch UMLS:C5442010 semapv:UnspecifiedMatching MONDO:0008552 platelet-type bleeding disorder 16 skos:exactMatch mesh:C566061 semapv:UnspecifiedMatching MONDO:0008553 platelet-type bleeding disorder 17 skos:exactMatch DOID:0111049 platelet-type bleeding disorder 17 semapv:UnspecifiedMatching MONDO:0008553 platelet-type bleeding disorder 17 skos:exactMatch NCIT:C142084 Bleeding Disorder, Platelet-Type 17 semapv:UnspecifiedMatching MONDO:0008553 platelet-type bleeding disorder 17 skos:exactMatch OMIM:187900 bleeding disorder, platelet-type, 17 semapv:UnspecifiedMatching MONDO:0008553 platelet-type bleeding disorder 17 skos:exactMatch mesh:C566060 semapv:UnspecifiedMatching MONDO:0008554 thrombocythemia 1 skos:exactMatch OMIM:187950 thrombocythemia 1 semapv:UnspecifiedMatching MONDO:0008554 thrombocythemia 1 skos:exactMatch UMLS:C3277671 semapv:UnspecifiedMatching MONDO:0008555 thrombocytopenia 2 skos:exactMatch NCIT:C129035 Thrombocytopenia 2 semapv:UnspecifiedMatching MONDO:0008555 thrombocytopenia 2 skos:exactMatch OMIM:188000 thrombocytopenia 2 semapv:UnspecifiedMatching MONDO:0008555 thrombocytopenia 2 skos:exactMatch mesh:C536519 semapv:UnspecifiedMatching MONDO:0008556 thrombocytopenia, cyclic skos:exactMatch OMIM:188020 thrombocytopenia, cyclic semapv:UnspecifiedMatching MONDO:0008556 thrombocytopenia, cyclic skos:exactMatch SCTID:48788004 semapv:UnspecifiedMatching MONDO:0008556 thrombocytopenia, cyclic skos:exactMatch UMLS:C0272282 semapv:UnspecifiedMatching MONDO:0008556 thrombocytopenia, cyclic skos:exactMatch mesh:C536899 semapv:UnspecifiedMatching MONDO:0008557 Paris-Trousseau thrombocytopenia skos:exactMatch OMIM:188025 thrombocytopenia, paris-trousseau iia semapv:UnspecifiedMatching MONDO:0008557 Paris-Trousseau thrombocytopenia skos:exactMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:UnspecifiedMatching MONDO:0008557 Paris-Trousseau thrombocytopenia skos:exactMatch UMLS:C1956093 semapv:UnspecifiedMatching MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch DOID:8924 autoimmune thrombocytopenic purpura semapv:UnspecifiedMatching MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch NCIT:C3446 Primary Immune Thrombocytopenia semapv:UnspecifiedMatching MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch OMIM:188030 immune thrombocytopenia semapv:UnspecifiedMatching MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch Orphanet:3002 Immune thrombocytopenia semapv:UnspecifiedMatching MONDO:0008559 thrombophilia due to thrombin defect skos:exactMatch DOID:0080701 prothrombin thrombophilia semapv:UnspecifiedMatching MONDO:0008559 thrombophilia due to thrombin defect skos:exactMatch DOID:0111907 thrombophilia due to thrombin defect semapv:UnspecifiedMatching MONDO:0008559 thrombophilia due to thrombin defect skos:exactMatch OMIM:188050 thrombophilia due to thrombin defect semapv:UnspecifiedMatching MONDO:0008559 thrombophilia due to thrombin defect skos:exactMatch SCTID:111293003 semapv:UnspecifiedMatching MONDO:0008560 thrombophilia due to activated protein C resistance skos:exactMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:UnspecifiedMatching MONDO:0008560 thrombophilia due to activated protein C resistance skos:exactMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:UnspecifiedMatching MONDO:0008560 thrombophilia due to activated protein C resistance skos:exactMatch SCTID:421527008 semapv:UnspecifiedMatching MONDO:0008560 thrombophilia due to activated protein C resistance skos:exactMatch UMLS:C1861171 semapv:UnspecifiedMatching MONDO:0008560 thrombophilia due to activated protein C resistance skos:exactMatch mesh:D020016 semapv:UnspecifiedMatching MONDO:0008561 thumb deformity skos:exactMatch OMIM:188100 thumb deformity semapv:UnspecifiedMatching MONDO:0008561 thumb deformity skos:exactMatch mesh:C536903 semapv:UnspecifiedMatching MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:exactMatch OMIM:188150 thumb deformity and alopecia semapv:UnspecifiedMatching MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:exactMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:UnspecifiedMatching MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:exactMatch UMLS:C1861168 semapv:UnspecifiedMatching MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:exactMatch mesh:C566054 semapv:UnspecifiedMatching MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome skos:exactMatch OMIM:188201 thumbs, stiff, with brachydactyly iia a1 and developmental delay semapv:UnspecifiedMatching MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome skos:exactMatch Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0008564 DiGeorge syndrome skos:exactMatch DOID:11198 DiGeorge syndrome semapv:UnspecifiedMatching MONDO:0008564 DiGeorge syndrome skos:exactMatch NCIT:C2989 22q11.2 Deletion Syndrome semapv:UnspecifiedMatching MONDO:0008564 DiGeorge syndrome skos:exactMatch OMIM:188400 digeorge syndrome semapv:UnspecifiedMatching MONDO:0008564 DiGeorge syndrome skos:exactMatch SCTID:77128003 semapv:UnspecifiedMatching MONDO:0008564 DiGeorge syndrome skos:exactMatch UMLS:C0012236 semapv:UnspecifiedMatching MONDO:0008564 DiGeorge syndrome skos:exactMatch mesh:D004062 semapv:UnspecifiedMatching MONDO:0008565 familial thyroglossal duct cyst skos:exactMatch OMIM:188455 thyroglossal duct cyst, familial semapv:UnspecifiedMatching MONDO:0008565 familial thyroglossal duct cyst skos:exactMatch Orphanet:93953 Familial thyroglossal duct cyst semapv:UnspecifiedMatching MONDO:0008565 familial thyroglossal duct cyst skos:exactMatch SCTID:717331000 semapv:UnspecifiedMatching MONDO:0008565 familial thyroglossal duct cyst skos:exactMatch UMLS:C3495590 semapv:UnspecifiedMatching MONDO:0008565 familial thyroglossal duct cyst skos:exactMatch mesh:C536909 semapv:UnspecifiedMatching MONDO:0008566 thyroid cancer, nonmedullary, 2 skos:exactMatch OMIM:188470 thyroid cancer, nonmedullary, 2 semapv:UnspecifiedMatching MONDO:0008566 thyroid cancer, nonmedullary, 2 skos:exactMatch mesh:C572845 semapv:UnspecifiedMatching MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:exactMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:UnspecifiedMatching MONDO:0008568 thyroid hormone plasma membrane transport defect skos:exactMatch OMIM:188560 thyroid hormone plasma membrane transport defect semapv:UnspecifiedMatching MONDO:0008568 thyroid hormone plasma membrane transport defect skos:exactMatch UMLS:C1861101 semapv:UnspecifiedMatching MONDO:0008568 thyroid hormone plasma membrane transport defect skos:exactMatch mesh:C536916 semapv:UnspecifiedMatching MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:exactMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:UnspecifiedMatching MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:exactMatch UMLS:C2937288 semapv:UnspecifiedMatching MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:exactMatch mesh:C567934 semapv:UnspecifiedMatching MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 skos:exactMatch OMIM:188580 thyrotoxic periodic paralysis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0008571 Blount disease, infantile skos:exactMatch OMIM:188700 blount disease, infantile semapv:UnspecifiedMatching MONDO:0008571 Blount disease, infantile skos:exactMatch UMLS:C0220757 semapv:UnspecifiedMatching MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch DOID:0111564 hypoplastic or aplastic tibia with polydactyly semapv:UnspecifiedMatching MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch OMIM:188740 tibia, hypoplasia or aplasia of, with polydactyly semapv:UnspecifiedMatching MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:UnspecifiedMatching MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch SCTID:716741008 semapv:UnspecifiedMatching MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch UMLS:C1861098 semapv:UnspecifiedMatching MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch mesh:C535564 semapv:UnspecifiedMatching MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch mesh:C566046 semapv:UnspecifiedMatching MONDO:0008573 tibial torsion, bilateral medial skos:exactMatch OMIM:188800 tibial torsion, bilateral medial semapv:UnspecifiedMatching MONDO:0008573 tibial torsion, bilateral medial skos:exactMatch UMLS:C1861097 semapv:UnspecifiedMatching MONDO:0008573 tibial torsion, bilateral medial skos:exactMatch mesh:C566045 semapv:UnspecifiedMatching MONDO:0008574 obsolete Tl antigen skos:exactMatch OMIM:188850 tl antigen semapv:UnspecifiedMatching MONDO:0008575 nicotine dependence skos:exactMatch DOID:0050742 nicotine dependence semapv:UnspecifiedMatching MONDO:0008575 nicotine dependence skos:exactMatch ICD10CM:F17 Nicotine dependence semapv:UnspecifiedMatching MONDO:0008575 nicotine dependence skos:exactMatch NCIT:C54203 Nicotine Dependence semapv:UnspecifiedMatching MONDO:0008575 nicotine dependence skos:exactMatch SCTID:56294008 semapv:UnspecifiedMatching MONDO:0008575 nicotine dependence skos:exactMatch mesh:D014029 semapv:UnspecifiedMatching MONDO:0008576 toe, fifth, number of phalanges 1N skos:exactMatch OMIM:189000 toe, fifth, number of phalanges 1n semapv:UnspecifiedMatching MONDO:0008577 toe, misshapen skos:exactMatch OMIM:189100 toe, misshapen semapv:UnspecifiedMatching MONDO:0008578 toe, rotated fifth skos:exactMatch OMIM:189150 toe, rotated fifth semapv:UnspecifiedMatching MONDO:0008579 toes, relative length of first and second skos:exactMatch OMIM:189200 toes, relative length of first and second semapv:UnspecifiedMatching MONDO:0008580 toes, space between first and second skos:exactMatch OMIM:189230 toes, space between first and second semapv:UnspecifiedMatching MONDO:0008581 malposition of teeth with or without hypodontia/oligodontia skos:exactMatch OMIM:189490 malposition of teeth with or without hypodontia/oligodontia semapv:UnspecifiedMatching MONDO:0008582 tooth and nail syndrome skos:exactMatch DOID:6678 tooth and nail syndrome semapv:UnspecifiedMatching MONDO:0008582 tooth and nail syndrome skos:exactMatch NCIT:C40553 Tooth and Nail Syndrome semapv:UnspecifiedMatching MONDO:0008582 tooth and nail syndrome skos:exactMatch OMIM:189500 witkop syndrome semapv:UnspecifiedMatching MONDO:0008582 tooth and nail syndrome skos:exactMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:UnspecifiedMatching MONDO:0008582 tooth and nail syndrome skos:exactMatch SCTID:400036004 semapv:UnspecifiedMatching MONDO:0008582 tooth and nail syndrome skos:exactMatch UMLS:C0406735 semapv:UnspecifiedMatching MONDO:0008582 tooth and nail syndrome skos:exactMatch mesh:C536736 semapv:UnspecifiedMatching MONDO:0008583 inherited torticollis skos:exactMatch NCIT:C4811 Fibromatosis Colli semapv:UnspecifiedMatching MONDO:0008583 inherited torticollis skos:exactMatch OMIM:189600 torticollis semapv:UnspecifiedMatching MONDO:0008583 inherited torticollis skos:exactMatch SCTID:268240006 semapv:UnspecifiedMatching MONDO:0008583 inherited torticollis skos:exactMatch SCTID:70070008 semapv:UnspecifiedMatching MONDO:0008583 inherited torticollis skos:exactMatch mesh:C535425 semapv:UnspecifiedMatching MONDO:0008584 torus palatinus and torus mandibularis skos:exactMatch OMIM:189700 torus palatinus and torus mandibularis semapv:UnspecifiedMatching MONDO:0008584 torus palatinus and torus mandibularis skos:exactMatch UMLS:C1861044 semapv:UnspecifiedMatching MONDO:0008584 torus palatinus and torus mandibularis skos:exactMatch mesh:C566043 semapv:UnspecifiedMatching MONDO:0008585 HELLP syndrome skos:exactMatch DOID:13133 HELLP syndrome semapv:UnspecifiedMatching MONDO:0008585 HELLP syndrome skos:exactMatch NCIT:C84750 HELLP Syndrome semapv:UnspecifiedMatching MONDO:0008585 HELLP syndrome skos:exactMatch Orphanet:244242 HELLP syndrome semapv:UnspecifiedMatching MONDO:0008585 HELLP syndrome skos:exactMatch UMLS:C0162739 semapv:UnspecifiedMatching MONDO:0008585 HELLP syndrome skos:exactMatch mesh:D017359 semapv:UnspecifiedMatching MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:exactMatch DOID:0080171 esophageal atresia/tracheoesophageal fistula semapv:UnspecifiedMatching MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:exactMatch OMIM:189960 tracheoesophageal fistula with or without esophageal atresia semapv:UnspecifiedMatching MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:exactMatch Orphanet:1199 Esophageal atresia semapv:UnspecifiedMatching MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:exactMatch SCTID:95435007 semapv:UnspecifiedMatching MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:exactMatch mesh:C531835 semapv:UnspecifiedMatching MONDO:0008587 tracheobronchopathia osteochondroplastica skos:exactMatch OMIM:189961 tracheopathia osteoplastica semapv:UnspecifiedMatching MONDO:0008587 tracheobronchopathia osteochondroplastica skos:exactMatch Orphanet:3348 Tracheobronchopathia osteochondroplastica semapv:UnspecifiedMatching MONDO:0008587 tracheobronchopathia osteochondroplastica skos:exactMatch SCTID:54675009 semapv:UnspecifiedMatching MONDO:0008587 tracheobronchopathia osteochondroplastica skos:exactMatch UMLS:C3887588 semapv:UnspecifiedMatching MONDO:0008587 tracheobronchopathia osteochondroplastica skos:exactMatch mesh:C536977 semapv:UnspecifiedMatching MONDO:0008588 hereditary geniospasm skos:exactMatch OMIM:190100 geniospasm 1 semapv:UnspecifiedMatching MONDO:0008588 hereditary geniospasm skos:exactMatch Orphanet:53372 Hereditary geniospasm semapv:UnspecifiedMatching MONDO:0008588 hereditary geniospasm skos:exactMatch SCTID:718103001 semapv:UnspecifiedMatching MONDO:0008588 hereditary geniospasm skos:exactMatch UMLS:C1860972 semapv:UnspecifiedMatching MONDO:0008588 hereditary geniospasm skos:exactMatch mesh:C537682 semapv:UnspecifiedMatching MONDO:0008589 tremor of intention, ataxia, and lipofuscinosis skos:exactMatch OMIM:190200 tremor of intention, ataxia, and lipofuscinosis semapv:UnspecifiedMatching MONDO:0008589 tremor of intention, ataxia, and lipofuscinosis skos:exactMatch UMLS:C1860872 semapv:UnspecifiedMatching MONDO:0008589 tremor of intention, ataxia, and lipofuscinosis skos:exactMatch mesh:C566038 semapv:UnspecifiedMatching MONDO:0008590 tremor, hereditary essential, 1 skos:exactMatch DOID:0111428 essential tremor 1 semapv:UnspecifiedMatching MONDO:0008590 tremor, hereditary essential, 1 skos:exactMatch OMIM:190300 tremor, hereditary essential, 1 semapv:UnspecifiedMatching MONDO:0008590 tremor, hereditary essential, 1 skos:exactMatch UMLS:C1860861 semapv:UnspecifiedMatching MONDO:0008590 tremor, hereditary essential, 1 skos:exactMatch mesh:C536545 semapv:UnspecifiedMatching MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:exactMatch OMIM:190310 tremor, nystagmus, and duodenal ulcer semapv:UnspecifiedMatching MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:exactMatch Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome semapv:UnspecifiedMatching MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:exactMatch UMLS:C1860860 semapv:UnspecifiedMatching MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:exactMatch mesh:C536406 semapv:UnspecifiedMatching MONDO:0008592 tricho-dento-osseous syndrome skos:exactMatch DOID:0111565 trichodontoosseous syndrome semapv:UnspecifiedMatching MONDO:0008592 tricho-dento-osseous syndrome skos:exactMatch OMIM:190320 trichodentoosseous syndrome semapv:UnspecifiedMatching MONDO:0008592 tricho-dento-osseous syndrome skos:exactMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:UnspecifiedMatching MONDO:0008592 tricho-dento-osseous syndrome skos:exactMatch SCTID:38993008 semapv:UnspecifiedMatching MONDO:0008592 tricho-dento-osseous syndrome skos:exactMatch mesh:C536549 semapv:UnspecifiedMatching MONDO:0008593 trichomegaly skos:exactMatch OMIM:190330 trichomegaly semapv:UnspecifiedMatching MONDO:0008594 familial multiple discoid fibromas skos:exactMatch OMIM:190340 discoid fibromas, familial multiple semapv:UnspecifiedMatching MONDO:0008594 familial multiple discoid fibromas skos:exactMatch Orphanet:538756 Familial multiple discoid fibromas semapv:UnspecifiedMatching MONDO:0008594 familial multiple discoid fibromas skos:exactMatch UMLS:C1860850 semapv:UnspecifiedMatching MONDO:0008594 familial multiple discoid fibromas skos:exactMatch mesh:C536847 semapv:UnspecifiedMatching MONDO:0008595 trichoepitheliomas, multiple desmoplastic skos:exactMatch OMIM:190345 trichoepitheliomas, multiple desmoplastic semapv:UnspecifiedMatching MONDO:0008595 trichoepitheliomas, multiple desmoplastic skos:exactMatch UMLS:C1860849 semapv:UnspecifiedMatching MONDO:0008595 trichoepitheliomas, multiple desmoplastic skos:exactMatch mesh:C566034 semapv:UnspecifiedMatching MONDO:0008596 trichorhinophalangeal syndrome type I skos:exactMatch DOID:14743 trichorhinophalangeal syndrome type I semapv:UnspecifiedMatching MONDO:0008596 trichorhinophalangeal syndrome type I skos:exactMatch NCIT:C75109 Trichorhinophalangeal Syndrome Type I semapv:UnspecifiedMatching MONDO:0008596 trichorhinophalangeal syndrome type I skos:exactMatch OMIM:190350 trichorhinophalangeal syndrome, iia 1 semapv:UnspecifiedMatching MONDO:0008596 trichorhinophalangeal syndrome type I skos:exactMatch SCTID:254091006 semapv:UnspecifiedMatching MONDO:0008596 trichorhinophalangeal syndrome type I skos:exactMatch mesh:C536820 semapv:UnspecifiedMatching MONDO:0008597 trichorhinophalangeal syndrome, type III skos:exactMatch DOID:0080376 trichorhinophalangeal syndrome type III semapv:UnspecifiedMatching MONDO:0008597 trichorhinophalangeal syndrome, type III skos:exactMatch OMIM:190351 trichorhinophalangeal syndrome, iia 3 semapv:UnspecifiedMatching MONDO:0008597 trichorhinophalangeal syndrome, type III skos:exactMatch UMLS:C1860823 semapv:UnspecifiedMatching MONDO:0008597 trichorhinophalangeal syndrome, type III skos:exactMatch mesh:C566033 semapv:UnspecifiedMatching MONDO:0008598 trichodysplasia-xeroderma syndrome skos:exactMatch OMIM:190360 trichodysplasia-xeroderma semapv:UnspecifiedMatching MONDO:0008598 trichodysplasia-xeroderma syndrome skos:exactMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:UnspecifiedMatching MONDO:0008598 trichodysplasia-xeroderma syndrome skos:exactMatch UMLS:C1860822 semapv:UnspecifiedMatching MONDO:0008598 trichodysplasia-xeroderma syndrome skos:exactMatch mesh:C566032 semapv:UnspecifiedMatching MONDO:0008599 trigeminal neuralgia skos:exactMatch DOID:12098 trigeminal neuralgia semapv:UnspecifiedMatching MONDO:0008599 trigeminal neuralgia skos:exactMatch ICD10CM:G50.0 Trigeminal neuralgia semapv:UnspecifiedMatching MONDO:0008599 trigeminal neuralgia skos:exactMatch OMIM:190400 trigeminal neuralgia semapv:UnspecifiedMatching MONDO:0008599 trigeminal neuralgia skos:exactMatch Orphanet:221091 Trigeminal neuralgia semapv:UnspecifiedMatching MONDO:0008599 trigeminal neuralgia skos:exactMatch SCTID:31681005 semapv:UnspecifiedMatching MONDO:0008599 trigeminal neuralgia skos:exactMatch UMLS:C0040997 semapv:UnspecifiedMatching MONDO:0008599 trigeminal neuralgia skos:exactMatch mesh:D014277 semapv:UnspecifiedMatching MONDO:0008600 trigger thumb skos:exactMatch OMIM:190410 trigger thumb semapv:UnspecifiedMatching MONDO:0008600 trigger thumb skos:exactMatch SCTID:42786005 semapv:UnspecifiedMatching MONDO:0008600 trigger thumb skos:exactMatch UMLS:C0410060 semapv:UnspecifiedMatching MONDO:0008600 trigger thumb skos:exactMatch mesh:D052582 semapv:UnspecifiedMatching MONDO:0008601 triglyceride storage disease, type 1 skos:exactMatch OMIM:190420 triglyceride storage disease, iia 1 semapv:UnspecifiedMatching MONDO:0008601 triglyceride storage disease, type 1 skos:exactMatch UMLS:C1860821 semapv:UnspecifiedMatching MONDO:0008601 triglyceride storage disease, type 1 skos:exactMatch mesh:C566031 semapv:UnspecifiedMatching MONDO:0008602 triglyceride storage disease, type 2 skos:exactMatch OMIM:190430 triglyceride storage disease, iia 2 semapv:UnspecifiedMatching MONDO:0008602 triglyceride storage disease, type 2 skos:exactMatch UMLS:C1860820 semapv:UnspecifiedMatching MONDO:0008602 triglyceride storage disease, type 2 skos:exactMatch mesh:C566030 semapv:UnspecifiedMatching MONDO:0008603 trigonocephaly 1 skos:exactMatch OMIM:190440 trigonocephaly 1 semapv:UnspecifiedMatching MONDO:0008604 triphalangeal thumb with double phalanges skos:exactMatch OMIM:190500 triphalangeal thumb with double phalanges semapv:UnspecifiedMatching MONDO:0008604 triphalangeal thumb with double phalanges skos:exactMatch UMLS:C1860807 semapv:UnspecifiedMatching MONDO:0008604 triphalangeal thumb with double phalanges skos:exactMatch mesh:C566028 semapv:UnspecifiedMatching MONDO:0008605 triphalangeal thumb, Nonopposable skos:exactMatch OMIM:190600 triphalangeal thumb, nonopposable semapv:UnspecifiedMatching MONDO:0008605 triphalangeal thumb, Nonopposable skos:exactMatch UMLS:C2931238 semapv:UnspecifiedMatching MONDO:0008605 triphalangeal thumb, Nonopposable skos:exactMatch mesh:C536562 semapv:UnspecifiedMatching MONDO:0008606 Say-field-Coldwell syndrome skos:exactMatch OMIM:190650 triphalangeal thumbs and dislocation of patella semapv:UnspecifiedMatching MONDO:0008606 Say-field-Coldwell syndrome skos:exactMatch UMLS:C1860805 semapv:UnspecifiedMatching MONDO:0008606 Say-field-Coldwell syndrome skos:exactMatch mesh:C536619 semapv:UnspecifiedMatching MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:exactMatch OMIM:190680 triphalangeal thumbs with brachyectrodactyly semapv:UnspecifiedMatching MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:exactMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:UnspecifiedMatching MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:exactMatch UMLS:C1860804 semapv:UnspecifiedMatching MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:exactMatch mesh:C536564 semapv:UnspecifiedMatching MONDO:0008608 Down syndrome skos:exactMatch DOID:14250 Down syndrome semapv:UnspecifiedMatching MONDO:0008608 Down syndrome skos:exactMatch NCIT:C2993 Down Syndrome semapv:UnspecifiedMatching MONDO:0008608 Down syndrome skos:exactMatch OMIM:190685 down syndrome semapv:UnspecifiedMatching MONDO:0008608 Down syndrome skos:exactMatch Orphanet:870 Down syndrome semapv:UnspecifiedMatching MONDO:0008608 Down syndrome skos:exactMatch SCTID:41040004 semapv:UnspecifiedMatching MONDO:0008608 Down syndrome skos:exactMatch UMLS:C0013080 semapv:UnspecifiedMatching MONDO:0008608 Down syndrome skos:exactMatch mesh:D004314 semapv:UnspecifiedMatching MONDO:0008609 Tristichiasis skos:exactMatch OMIM:190800 tristichiasis semapv:UnspecifiedMatching MONDO:0008610 blue color blindness skos:exactMatch DOID:11661 blue color blindness semapv:UnspecifiedMatching MONDO:0008610 blue color blindness skos:exactMatch OMIM:190900 tritanopia semapv:UnspecifiedMatching MONDO:0008610 blue color blindness skos:exactMatch Orphanet:88629 Tritanopia semapv:UnspecifiedMatching MONDO:0008610 blue color blindness skos:exactMatch SCTID:51886007 semapv:UnspecifiedMatching MONDO:0008610 blue color blindness skos:exactMatch UMLS:C0155017 semapv:UnspecifiedMatching MONDO:0008611 humerus trochlea aplasia skos:exactMatch OMIM:191000 trochlea of the humerus, aplasia of semapv:UnspecifiedMatching MONDO:0008611 humerus trochlea aplasia skos:exactMatch Orphanet:3383 Humerus trochlea aplasia semapv:UnspecifiedMatching MONDO:0008611 humerus trochlea aplasia skos:exactMatch SCTID:732928005 semapv:UnspecifiedMatching MONDO:0008611 humerus trochlea aplasia skos:exactMatch UMLS:C1860773 semapv:UnspecifiedMatching MONDO:0008611 humerus trochlea aplasia skos:exactMatch mesh:C566022 semapv:UnspecifiedMatching MONDO:0008612 tuberous sclerosis 1 skos:exactMatch DOID:0080324 tuberous sclerosis 1 semapv:UnspecifiedMatching MONDO:0008612 tuberous sclerosis 1 skos:exactMatch NCIT:C75122 Tuberous Sclerosis 1 semapv:UnspecifiedMatching MONDO:0008612 tuberous sclerosis 1 skos:exactMatch OMIM:191100 tuberous sclerosis 1 semapv:UnspecifiedMatching MONDO:0008612 tuberous sclerosis 1 skos:exactMatch mesh:C565346 semapv:UnspecifiedMatching MONDO:0008613 Tuftsin deficiency skos:exactMatch OMIM:191150 tuftsin deficiency semapv:UnspecifiedMatching MONDO:0008613 Tuftsin deficiency skos:exactMatch SCTID:234584007 semapv:UnspecifiedMatching MONDO:0008613 Tuftsin deficiency skos:exactMatch UMLS:C0398741 semapv:UnspecifiedMatching MONDO:0008613 Tuftsin deficiency skos:exactMatch mesh:C562872 semapv:UnspecifiedMatching MONDO:0008614 suppressor of tumorigenicity 3 skos:exactMatch OMIM:191181 suppressor of tumorigenicity 3 semapv:UnspecifiedMatching MONDO:0008614 suppressor of tumorigenicity 3 skos:exactMatch UMLS:C1860658 semapv:UnspecifiedMatching MONDO:0008615 tune deafness skos:exactMatch OMIM:191200 tune deafness semapv:UnspecifiedMatching MONDO:0008615 tune deafness skos:exactMatch SCTID:55647004 semapv:UnspecifiedMatching MONDO:0008615 tune deafness skos:exactMatch UMLS:C1860646 semapv:UnspecifiedMatching MONDO:0008615 tune deafness skos:exactMatch mesh:C566019 semapv:UnspecifiedMatching MONDO:0008616 obsolete twinning due to superfetation skos:exactMatch OMIM:191250 twinning due to superfetation semapv:UnspecifiedMatching MONDO:0008616 obsolete twinning due to superfetation skos:exactMatch mesh:C566018 semapv:UnspecifiedMatching MONDO:0008617 inflammatory bowel disease 11 skos:exactMatch DOID:0110894 inflammatory bowel disease 11 semapv:UnspecifiedMatching MONDO:0008617 inflammatory bowel disease 11 skos:exactMatch OMIM:191390 inflammatory bowel disease 11 semapv:UnspecifiedMatching MONDO:0008617 inflammatory bowel disease 11 skos:exactMatch UMLS:C2674051 semapv:UnspecifiedMatching MONDO:0008617 inflammatory bowel disease 11 skos:exactMatch mesh:C567154 semapv:UnspecifiedMatching MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:exactMatch OMIM:191400 ulna and fibula, hypoplasia of semapv:UnspecifiedMatching MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:exactMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:UnspecifiedMatching MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:exactMatch SCTID:715472000 semapv:UnspecifiedMatching MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:exactMatch UMLS:C1860616 semapv:UnspecifiedMatching MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:exactMatch mesh:C537349 semapv:UnspecifiedMatching MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:exactMatch OMIM:191420 ulna metaphyseal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:exactMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:exactMatch SCTID:715242008 semapv:UnspecifiedMatching MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:exactMatch UMLS:C1860615 semapv:UnspecifiedMatching MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:exactMatch mesh:C536935 semapv:UnspecifiedMatching MONDO:0008620 upper limb mesomelic dysplasia skos:exactMatch OMIM:191440 ulnar hypoplasia semapv:UnspecifiedMatching MONDO:0008620 upper limb mesomelic dysplasia skos:exactMatch Orphanet:2497 Upper limb mesomelic dysplasia semapv:UnspecifiedMatching MONDO:0008620 upper limb mesomelic dysplasia skos:exactMatch mesh:C538069 semapv:UnspecifiedMatching MONDO:0008621 uncombable hair syndrome skos:exactMatch Orphanet:1410 Uncombable hair syndrome semapv:UnspecifiedMatching MONDO:0008621 uncombable hair syndrome skos:exactMatch SCTID:254230001 semapv:UnspecifiedMatching MONDO:0008621 uncombable hair syndrome skos:exactMatch UMLS:C0432347 semapv:UnspecifiedMatching MONDO:0008621 uncombable hair syndrome skos:exactMatch mesh:C536939 semapv:UnspecifiedMatching MONDO:0008622 tricho-retino-dento-digital syndrome skos:exactMatch OMIM:191482 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly semapv:UnspecifiedMatching MONDO:0008622 tricho-retino-dento-digital syndrome skos:exactMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:UnspecifiedMatching MONDO:0008622 tricho-retino-dento-digital syndrome skos:exactMatch SCTID:719910004 semapv:UnspecifiedMatching MONDO:0008622 tricho-retino-dento-digital syndrome skos:exactMatch UMLS:C1860605 semapv:UnspecifiedMatching MONDO:0008622 tricho-retino-dento-digital syndrome skos:exactMatch mesh:C536576 semapv:UnspecifiedMatching MONDO:0008623 Undritz anomaly skos:exactMatch OMIM:191500 undritz anomaly semapv:UnspecifiedMatching MONDO:0008623 Undritz anomaly skos:exactMatch UMLS:C1860604 semapv:UnspecifiedMatching MONDO:0008623 Undritz anomaly skos:exactMatch mesh:C566014 semapv:UnspecifiedMatching MONDO:0008624 Upington disease skos:exactMatch OMIM:191520 upington disease semapv:UnspecifiedMatching MONDO:0008624 Upington disease skos:exactMatch Orphanet:3408 Upington disease semapv:UnspecifiedMatching MONDO:0008624 Upington disease skos:exactMatch SCTID:719041000 semapv:UnspecifiedMatching MONDO:0008624 Upington disease skos:exactMatch UMLS:C1860596 semapv:UnspecifiedMatching MONDO:0008624 Upington disease skos:exactMatch mesh:C536472 semapv:UnspecifiedMatching MONDO:0008625 obsolete urate-binding globulin, decrease 1N skos:exactMatch OMIM:191530 urate-binding globulin, decrease 1n semapv:UnspecifiedMatching MONDO:0008625 obsolete urate-binding globulin, decrease 1N skos:exactMatch UMLS:C1860587 semapv:UnspecifiedMatching MONDO:0008625 obsolete urate-binding globulin, decrease 1N skos:exactMatch mesh:C566013 semapv:UnspecifiedMatching MONDO:0008626 ureter, bifid or double skos:exactMatch OMIM:191550 ureter, bifid or double semapv:UnspecifiedMatching MONDO:0008626 ureter, bifid or double skos:exactMatch UMLS:C1860586 semapv:UnspecifiedMatching MONDO:0008626 ureter, bifid or double skos:exactMatch mesh:C566012 semapv:UnspecifiedMatching MONDO:0008627 ureter cancer skos:exactMatch DOID:11819 ureter cancer semapv:UnspecifiedMatching MONDO:0008627 ureter cancer skos:exactMatch ICD10CM:C66 Malignant neoplasm of ureter semapv:UnspecifiedMatching MONDO:0008627 ureter cancer skos:exactMatch NCIT:C7543 Malignant Ureter Neoplasm semapv:UnspecifiedMatching MONDO:0008627 ureter cancer skos:exactMatch OMIM:191600 ureter, cancer of semapv:UnspecifiedMatching MONDO:0008627 ureter cancer skos:exactMatch SCTID:363458004 semapv:UnspecifiedMatching MONDO:0008627 ureter cancer skos:exactMatch UMLS:C0153619 semapv:UnspecifiedMatching MONDO:0008627 ureter cancer skos:exactMatch mesh:D014516 semapv:UnspecifiedMatching MONDO:0008628 ureterocele skos:exactMatch DOID:4022 ureterocele semapv:UnspecifiedMatching MONDO:0008628 ureterocele skos:exactMatch NCIT:C123159 Ureterocele semapv:UnspecifiedMatching MONDO:0008628 ureterocele skos:exactMatch OMIM:191650 ureterocele semapv:UnspecifiedMatching MONDO:0008628 ureterocele skos:exactMatch SCTID:12818004 semapv:UnspecifiedMatching MONDO:0008628 ureterocele skos:exactMatch mesh:D014518 semapv:UnspecifiedMatching MONDO:0008629 urolithiasis, uric acid, autosomal dominant skos:exactMatch DOID:0080654 uric acid urolithiasis semapv:UnspecifiedMatching MONDO:0008629 urolithiasis, uric acid, autosomal dominant skos:exactMatch OMIM:191700 urolithiasis, uric acid, autosomal dominant semapv:UnspecifiedMatching MONDO:0008630 urinary bladder, atony of skos:exactMatch OMIM:191800 bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut semapv:UnspecifiedMatching MONDO:0008632 urticaria, aquagenic skos:exactMatch OMIM:191850 urticaria, aquagenic semapv:UnspecifiedMatching MONDO:0008632 urticaria, aquagenic skos:exactMatch SCTID:89870006 semapv:UnspecifiedMatching MONDO:0008632 urticaria, aquagenic skos:exactMatch UMLS:C0263334 semapv:UnspecifiedMatching MONDO:0008632 urticaria, aquagenic skos:exactMatch mesh:C562481 semapv:UnspecifiedMatching MONDO:0008633 Muckle-Wells syndrome skos:exactMatch DOID:0050854 Muckle-Wells syndrome semapv:UnspecifiedMatching MONDO:0008633 Muckle-Wells syndrome skos:exactMatch NCIT:C119054 Muckle-Wells Syndrome semapv:UnspecifiedMatching MONDO:0008633 Muckle-Wells syndrome skos:exactMatch OMIM:191900 muckle-wells syndrome semapv:UnspecifiedMatching MONDO:0008633 Muckle-Wells syndrome skos:exactMatch Orphanet:575 Muckle-Wells syndrome semapv:UnspecifiedMatching MONDO:0008633 Muckle-Wells syndrome skos:exactMatch SCTID:402417009 semapv:UnspecifiedMatching MONDO:0008633 Muckle-Wells syndrome skos:exactMatch UMLS:C0268390 semapv:UnspecifiedMatching MONDO:0008634 urticaria, familial localized heat skos:exactMatch OMIM:191950 urticaria, familial localized heat semapv:UnspecifiedMatching MONDO:0008634 urticaria, familial localized heat skos:exactMatch UMLS:C1860551 semapv:UnspecifiedMatching MONDO:0008634 urticaria, familial localized heat skos:exactMatch mesh:C566011 semapv:UnspecifiedMatching MONDO:0008635 uterine anomalies skos:exactMatch OMIM:192000 uterine anomalies semapv:UnspecifiedMatching MONDO:0008635 uterine anomalies skos:exactMatch mesh:C562565 semapv:UnspecifiedMatching MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:exactMatch OMIM:192050 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis semapv:UnspecifiedMatching MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:exactMatch Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome semapv:UnspecifiedMatching MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:exactMatch SCTID:722431007 semapv:UnspecifiedMatching MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:exactMatch mesh:C566010 semapv:UnspecifiedMatching MONDO:0008637 bifid uvula skos:exactMatch OMIM:192100 uvula, bifid semapv:UnspecifiedMatching MONDO:0008637 bifid uvula skos:exactMatch Orphanet:99771 Bifid uvula semapv:UnspecifiedMatching MONDO:0008637 bifid uvula skos:exactMatch SCTID:18910001 semapv:UnspecifiedMatching MONDO:0008638 varicose disease skos:exactMatch DOID:799 varicose veins semapv:UnspecifiedMatching MONDO:0008638 varicose disease skos:exactMatch NCIT:C35114 Varicose Vein semapv:UnspecifiedMatching MONDO:0008638 varicose disease skos:exactMatch OMIM:192200 varicose veins semapv:UnspecifiedMatching MONDO:0008638 varicose disease skos:exactMatch SCTID:128060009 semapv:UnspecifiedMatching MONDO:0008638 varicose disease skos:exactMatch UMLS:C0042345 semapv:UnspecifiedMatching MONDO:0008638 varicose disease skos:exactMatch mesh:D014648 semapv:UnspecifiedMatching MONDO:0008639 vascular helix of umbilical cord skos:exactMatch OMIM:192300 vascular helix of umbilical cord semapv:UnspecifiedMatching MONDO:0008640 vasculitis, lymphocytic, nodular skos:exactMatch OMIM:192310 vasculitis, lymphocytic, nodular semapv:UnspecifiedMatching MONDO:0008640 vasculitis, lymphocytic, nodular skos:exactMatch UMLS:C1860519 semapv:UnspecifiedMatching MONDO:0008640 vasculitis, lymphocytic, nodular skos:exactMatch mesh:C566008 semapv:UnspecifiedMatching MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch DOID:0111567 retinal vasculopathy with cerebral leukodystrophy semapv:UnspecifiedMatching MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch OMIM:192315 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations semapv:UnspecifiedMatching MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations semapv:UnspecifiedMatching MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch SCTID:720854004 semapv:UnspecifiedMatching MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch UMLS:C1860518 semapv:UnspecifiedMatching MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch mesh:C566007 semapv:UnspecifiedMatching MONDO:0008642 VACTERL/vater association skos:exactMatch DOID:14679 VACTERL association semapv:UnspecifiedMatching MONDO:0008642 VACTERL/vater association skos:exactMatch NCIT:C99105 VACTERL Association semapv:UnspecifiedMatching MONDO:0008642 VACTERL/vater association skos:exactMatch OMIM:192350 vater/vacterl association semapv:UnspecifiedMatching MONDO:0008642 VACTERL/vater association skos:exactMatch Orphanet:887 VACTERL/VATER association semapv:UnspecifiedMatching MONDO:0008642 VACTERL/vater association skos:exactMatch SCTID:27742002 semapv:UnspecifiedMatching MONDO:0008642 VACTERL/vater association skos:exactMatch UMLS:C4225671 semapv:UnspecifiedMatching MONDO:0008643 veins, pattern of, on anterior thorax skos:exactMatch OMIM:192400 veins, pattern of, on anterior thorax semapv:UnspecifiedMatching MONDO:0008644 velocardiofacial syndrome skos:exactMatch DOID:12583 velocardiofacial syndrome semapv:UnspecifiedMatching MONDO:0008644 velocardiofacial syndrome skos:exactMatch OMIM:192430 velocardiofacial syndrome semapv:UnspecifiedMatching MONDO:0008644 velocardiofacial syndrome skos:exactMatch UMLS:C0220704 semapv:UnspecifiedMatching MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:exactMatch OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence semapv:UnspecifiedMatching MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:exactMatch Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome semapv:UnspecifiedMatching MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:exactMatch SCTID:719823007 semapv:UnspecifiedMatching MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:exactMatch mesh:C537497 semapv:UnspecifiedMatching MONDO:0008647 hypertrophic cardiomyopathy 1 skos:exactMatch DOID:0110307 hypertrophic cardiomyopathy 1 semapv:UnspecifiedMatching MONDO:0008647 hypertrophic cardiomyopathy 1 skos:exactMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:UnspecifiedMatching MONDO:0008648 ventricular tachycardia, familial skos:exactMatch OMIM:192605 ventricular tachycardia, familial semapv:UnspecifiedMatching MONDO:0008648 ventricular tachycardia, familial skos:exactMatch SCTID:233906007 semapv:UnspecifiedMatching MONDO:0008649 venular insufficiency, systemic skos:exactMatch OMIM:192700 venular insufficiency, systemic semapv:UnspecifiedMatching MONDO:0008649 venular insufficiency, systemic skos:exactMatch UMLS:C1860465 semapv:UnspecifiedMatching MONDO:0008649 venular insufficiency, systemic skos:exactMatch mesh:C566004 semapv:UnspecifiedMatching MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:exactMatch OMIM:192800 vertebral fusion, posterior lumbosacral, with blepharoptosis semapv:UnspecifiedMatching MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:exactMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:UnspecifiedMatching MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:exactMatch SCTID:724064004 semapv:UnspecifiedMatching MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:exactMatch UMLS:C1860464 semapv:UnspecifiedMatching MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:exactMatch mesh:C536344 semapv:UnspecifiedMatching MONDO:0008651 vertebral hypoplasia with lumbar kyphosis skos:exactMatch OMIM:192900 vertebral hypoplasia with lumbar kyphosis semapv:UnspecifiedMatching MONDO:0008651 vertebral hypoplasia with lumbar kyphosis skos:exactMatch UMLS:C1860463 semapv:UnspecifiedMatching MONDO:0008651 vertebral hypoplasia with lumbar kyphosis skos:exactMatch mesh:C566002 semapv:UnspecifiedMatching MONDO:0008652 congenital vertical talus skos:exactMatch DOID:0111568 congenital vertical talus semapv:UnspecifiedMatching MONDO:0008652 congenital vertical talus skos:exactMatch OMIM:192950 vertical talus, congenital semapv:UnspecifiedMatching MONDO:0008652 congenital vertical talus skos:exactMatch Orphanet:178382 Congenital vertical talus semapv:UnspecifiedMatching MONDO:0008652 congenital vertical talus skos:exactMatch SCTID:205082007 semapv:UnspecifiedMatching MONDO:0008652 congenital vertical talus skos:exactMatch mesh:C536345 semapv:UnspecifiedMatching MONDO:0008653 vesicoureteral reflux 1 skos:exactMatch OMIM:193000 vesicoureteral reflux 1 semapv:UnspecifiedMatching MONDO:0008653 vesicoureteral reflux 1 skos:exactMatch UMLS:C4551858 semapv:UnspecifiedMatching MONDO:0008654 spinocerebellar ataxia 27A skos:exactMatch OMIM:193003 spinocerebellar ataxia 27a semapv:UnspecifiedMatching MONDO:0008654 spinocerebellar ataxia 27A skos:exactMatch mesh:C537856 semapv:UnspecifiedMatching MONDO:0008655 vestibulocochlear dysfunction, progressive skos:exactMatch OMIM:193005 vestibulocochlear dysfunction, progressive semapv:UnspecifiedMatching MONDO:0008655 vestibulocochlear dysfunction, progressive skos:exactMatch UMLS:C2931176 semapv:UnspecifiedMatching MONDO:0008655 vestibulocochlear dysfunction, progressive skos:exactMatch mesh:C536346 semapv:UnspecifiedMatching MONDO:0008658 obsolete virus Rd114 RNA Complementarity skos:exactMatch OMIM:193070 virus rd114 RNA complementarity semapv:UnspecifiedMatching MONDO:0008659 transcobalamin I deficiency skos:exactMatch OMIM:193090 transcobalamin 1 deficiency semapv:UnspecifiedMatching MONDO:0008659 transcobalamin I deficiency skos:exactMatch Orphanet:2967 Transcobalamin I deficiency semapv:UnspecifiedMatching MONDO:0008659 transcobalamin I deficiency skos:exactMatch SCTID:237933007 semapv:UnspecifiedMatching MONDO:0008659 transcobalamin I deficiency skos:exactMatch UMLS:C0342700 semapv:UnspecifiedMatching MONDO:0008659 transcobalamin I deficiency skos:exactMatch mesh:C562798 semapv:UnspecifiedMatching MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:exactMatch DOID:0050948 autosomal dominant hypophosphatemic rickets semapv:UnspecifiedMatching MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:exactMatch OMIM:193100 hypophosphatemic rickets, autosomal dominant semapv:UnspecifiedMatching MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:exactMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:UnspecifiedMatching MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:exactMatch SCTID:237889002 semapv:UnspecifiedMatching MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:exactMatch UMLS:C0342642 semapv:UnspecifiedMatching MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:exactMatch mesh:C562791 semapv:UnspecifiedMatching MONDO:0008661 vitiligo skos:exactMatch DOID:12306 vitiligo semapv:UnspecifiedMatching MONDO:0008661 vitiligo skos:exactMatch ICD10CM:L80 Vitiligo semapv:UnspecifiedMatching MONDO:0008661 vitiligo skos:exactMatch NCIT:C26915 Vitiligo semapv:UnspecifiedMatching MONDO:0008661 vitiligo skos:exactMatch UMLS:C0042900 semapv:UnspecifiedMatching MONDO:0008661 vitiligo skos:exactMatch mesh:D014820 semapv:UnspecifiedMatching MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:exactMatch DOID:0111569 autosomal dominant vitreoretinochoroidopathy semapv:UnspecifiedMatching MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:exactMatch OMIM:193220 vitreoretinochoroidopathy semapv:UnspecifiedMatching MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:exactMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:UnspecifiedMatching MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:exactMatch SCTID:711162004 semapv:UnspecifiedMatching MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:exactMatch UMLS:C3888099 semapv:UnspecifiedMatching MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:exactMatch mesh:C536352 semapv:UnspecifiedMatching MONDO:0008663 snowflake vitreoretinal degeneration skos:exactMatch DOID:0111570 snowflake vitreoretinal degeneration semapv:UnspecifiedMatching MONDO:0008663 snowflake vitreoretinal degeneration skos:exactMatch OMIM:193230 vitreoretinal degeneration, snowflake iia semapv:UnspecifiedMatching MONDO:0008663 snowflake vitreoretinal degeneration skos:exactMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:UnspecifiedMatching MONDO:0008663 snowflake vitreoretinal degeneration skos:exactMatch UMLS:C1860405 semapv:UnspecifiedMatching MONDO:0008663 snowflake vitreoretinal degeneration skos:exactMatch mesh:C536677 semapv:UnspecifiedMatching MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:exactMatch OMIM:193240 vocal cord paralysis and ptosis semapv:UnspecifiedMatching MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:exactMatch Orphanet:2997 Ptosis-vocal cord paralysis syndrome semapv:UnspecifiedMatching MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:exactMatch UMLS:C1860403 semapv:UnspecifiedMatching MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:exactMatch mesh:C536923 semapv:UnspecifiedMatching MONDO:0008666 volvulus of midgut skos:exactMatch NCIT:C98961 Intestinal Malrotation semapv:UnspecifiedMatching MONDO:0008666 volvulus of midgut skos:exactMatch OMIM:193250 volvulus of midgut semapv:UnspecifiedMatching MONDO:0008666 volvulus of midgut skos:exactMatch SCTID:458422009 semapv:UnspecifiedMatching MONDO:0008666 volvulus of midgut skos:exactMatch mesh:C562456 semapv:UnspecifiedMatching MONDO:0008667 von Hippel-Lindau disease skos:exactMatch DOID:14175 von Hippel-Lindau disease semapv:UnspecifiedMatching MONDO:0008667 von Hippel-Lindau disease skos:exactMatch NCIT:C3105 Von Hippel Lindau Syndrome semapv:UnspecifiedMatching MONDO:0008667 von Hippel-Lindau disease skos:exactMatch OMIM:193300 von hippel-lindau syndrome semapv:UnspecifiedMatching MONDO:0008667 von Hippel-Lindau disease skos:exactMatch Orphanet:892 Von Hippel-Lindau disease semapv:UnspecifiedMatching MONDO:0008667 von Hippel-Lindau disease skos:exactMatch SCTID:46659004 semapv:UnspecifiedMatching MONDO:0008667 von Hippel-Lindau disease skos:exactMatch UMLS:C0019562 semapv:UnspecifiedMatching MONDO:0008667 von Hippel-Lindau disease skos:exactMatch mesh:D006623 semapv:UnspecifiedMatching MONDO:0008668 von Willebrand disease 1 skos:exactMatch DOID:0060573 von Willebrand's disease 1 semapv:UnspecifiedMatching MONDO:0008668 von Willebrand disease 1 skos:exactMatch NCIT:C131685 von Willebrand Disease, Type 1 semapv:UnspecifiedMatching MONDO:0008668 von Willebrand disease 1 skos:exactMatch OMIM:193400 von willebrand disease, iia 1 semapv:UnspecifiedMatching MONDO:0008668 von Willebrand disease 1 skos:exactMatch Orphanet:166078 Von Willebrand disease type 1 semapv:UnspecifiedMatching MONDO:0008668 von Willebrand disease 1 skos:exactMatch SCTID:128106003 semapv:UnspecifiedMatching MONDO:0008668 von Willebrand disease 1 skos:exactMatch UMLS:C1264039 semapv:UnspecifiedMatching MONDO:0008668 von Willebrand disease 1 skos:exactMatch mesh:D056725 semapv:UnspecifiedMatching MONDO:0008669 vulvovaginitis, allergic seminal skos:exactMatch OMIM:193450 vulvovaginitis, allergic seminal semapv:UnspecifiedMatching MONDO:0008669 vulvovaginitis, allergic seminal skos:exactMatch UMLS:C1860357 semapv:UnspecifiedMatching MONDO:0008669 vulvovaginitis, allergic seminal skos:exactMatch mesh:C565993 semapv:UnspecifiedMatching MONDO:0008670 Waardenburg syndrome type 1 skos:exactMatch DOID:0110948 Waardenburg syndrome type 1 semapv:UnspecifiedMatching MONDO:0008670 Waardenburg syndrome type 1 skos:exactMatch NCIT:C75008 Waardenburg Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0008670 Waardenburg syndrome type 1 skos:exactMatch OMIM:193500 waardenburg syndrome, iia 1 semapv:UnspecifiedMatching MONDO:0008670 Waardenburg syndrome type 1 skos:exactMatch Orphanet:894 Waardenburg syndrome type 1 semapv:UnspecifiedMatching MONDO:0008670 Waardenburg syndrome type 1 skos:exactMatch UMLS:C1847800 semapv:UnspecifiedMatching MONDO:0008671 Waardenburg syndrome type 2A skos:exactMatch DOID:0110950 Waardenburg syndrome type 2A semapv:UnspecifiedMatching MONDO:0008671 Waardenburg syndrome type 2A skos:exactMatch NCIT:C75011 Waardenburg Syndrome Type 2A semapv:UnspecifiedMatching MONDO:0008671 Waardenburg syndrome type 2A skos:exactMatch OMIM:193510 waardenburg syndrome, iia 2a semapv:UnspecifiedMatching MONDO:0008671 Waardenburg syndrome type 2A skos:exactMatch mesh:C536464 semapv:UnspecifiedMatching MONDO:0008672 Watson syndrome skos:exactMatch OMIM:193520 watson syndrome semapv:UnspecifiedMatching MONDO:0008672 Watson syndrome skos:exactMatch SCTID:403820003 semapv:UnspecifiedMatching MONDO:0008672 Watson syndrome skos:exactMatch UMLS:C0553586 semapv:UnspecifiedMatching MONDO:0008673 acrofacial dysostosis, Weyers type skos:exactMatch DOID:0111571 Weyers acrofacial dysostosis semapv:UnspecifiedMatching MONDO:0008673 acrofacial dysostosis, Weyers type skos:exactMatch OMIM:193530 weyers acrofacial dysostosis semapv:UnspecifiedMatching MONDO:0008673 acrofacial dysostosis, Weyers type skos:exactMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:UnspecifiedMatching MONDO:0008673 acrofacial dysostosis, Weyers type skos:exactMatch SCTID:277807007 semapv:UnspecifiedMatching MONDO:0008673 acrofacial dysostosis, Weyers type skos:exactMatch UMLS:C0457013 semapv:UnspecifiedMatching MONDO:0008673 acrofacial dysostosis, Weyers type skos:exactMatch mesh:C536695 semapv:UnspecifiedMatching MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch DOID:0111604 Freeman-Sheldon syndrome semapv:UnspecifiedMatching MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch DOID:0111605 distal arthrogryposis type 2A semapv:UnspecifiedMatching MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch NCIT:C98931 Freeman-Sheldon Syndrome semapv:UnspecifiedMatching MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch OMIM:193700 arthrogryposis, distal, iia 2a semapv:UnspecifiedMatching MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:UnspecifiedMatching MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch SCTID:52616002 semapv:UnspecifiedMatching MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch UMLS:C0265224 semapv:UnspecifiedMatching MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch mesh:C535483 semapv:UnspecifiedMatching MONDO:0008676 white sponge nevus 1 skos:exactMatch DOID:0081287 white sponge nevus 1 semapv:UnspecifiedMatching MONDO:0008676 white sponge nevus 1 skos:exactMatch OMIM:193900 white sponge nevus 1 semapv:UnspecifiedMatching MONDO:0008676 white sponge nevus 1 skos:exactMatch UMLS:C4011926 semapv:UnspecifiedMatching MONDO:0008677 obsolete widow's peak skos:exactMatch OMIM:194000 widow's peak semapv:UnspecifiedMatching MONDO:0008678 Williams syndrome skos:exactMatch DOID:1928 Williams-Beuren syndrome semapv:UnspecifiedMatching MONDO:0008678 Williams syndrome skos:exactMatch NCIT:C85232 Williams Syndrome semapv:UnspecifiedMatching MONDO:0008678 Williams syndrome skos:exactMatch OMIM:194050 williams-beuren syndrome semapv:UnspecifiedMatching MONDO:0008678 Williams syndrome skos:exactMatch Orphanet:904 Williams syndrome semapv:UnspecifiedMatching MONDO:0008678 Williams syndrome skos:exactMatch SCTID:63247009 semapv:UnspecifiedMatching MONDO:0008678 Williams syndrome skos:exactMatch UMLS:C0175702 semapv:UnspecifiedMatching MONDO:0008678 Williams syndrome skos:exactMatch mesh:D018980 semapv:UnspecifiedMatching MONDO:0008679 Wilms tumor 1 skos:exactMatch OMIM:194070 wilms tumor 1 semapv:UnspecifiedMatching MONDO:0008679 Wilms tumor 1 skos:exactMatch UMLS:CN033288 semapv:UnspecifiedMatching MONDO:0008680 Wilms tumor 2 skos:exactMatch OMIM:194071 wilms tumor 2 semapv:UnspecifiedMatching MONDO:0008680 Wilms tumor 2 skos:exactMatch mesh:C536853 semapv:UnspecifiedMatching MONDO:0008681 WAGR syndrome skos:exactMatch DOID:14515 WAGR syndrome semapv:UnspecifiedMatching MONDO:0008681 WAGR syndrome skos:exactMatch NCIT:C3718 WAGR Syndrome semapv:UnspecifiedMatching MONDO:0008681 WAGR syndrome skos:exactMatch OMIM:194072 wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome semapv:UnspecifiedMatching MONDO:0008681 WAGR syndrome skos:exactMatch Orphanet:893 WAGR syndrome semapv:UnspecifiedMatching MONDO:0008681 WAGR syndrome skos:exactMatch SCTID:715215007 semapv:UnspecifiedMatching MONDO:0008681 WAGR syndrome skos:exactMatch UMLS:C0206115 semapv:UnspecifiedMatching MONDO:0008681 WAGR syndrome skos:exactMatch mesh:D017624 semapv:UnspecifiedMatching MONDO:0008682 Denys-Drash syndrome skos:exactMatch DOID:3764 Denys-Drash syndrome semapv:UnspecifiedMatching MONDO:0008682 Denys-Drash syndrome skos:exactMatch NCIT:C84668 Denys-Drash Syndrome semapv:UnspecifiedMatching MONDO:0008682 Denys-Drash syndrome skos:exactMatch OMIM:194080 denys-drash syndrome semapv:UnspecifiedMatching MONDO:0008682 Denys-Drash syndrome skos:exactMatch Orphanet:220 Denys-Drash syndrome semapv:UnspecifiedMatching MONDO:0008682 Denys-Drash syndrome skos:exactMatch SCTID:236385009 semapv:UnspecifiedMatching MONDO:0008682 Denys-Drash syndrome skos:exactMatch UMLS:C0950121 semapv:UnspecifiedMatching MONDO:0008682 Denys-Drash syndrome skos:exactMatch mesh:D030321 semapv:UnspecifiedMatching MONDO:0008683 Wilms tumor 3 skos:exactMatch OMIM:194090 wilms tumor 3 semapv:UnspecifiedMatching MONDO:0008683 Wilms tumor 3 skos:exactMatch UMLS:C1860265 semapv:UnspecifiedMatching MONDO:0008683 Wilms tumor 3 skos:exactMatch mesh:C565991 semapv:UnspecifiedMatching MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch DOID:0050460 Wolf-Hirschhorn syndrome semapv:UnspecifiedMatching MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch NCIT:C35528 Wolf-Hirschhorn Syndrome semapv:UnspecifiedMatching MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch OMIM:194190 wolf-hirschhorn syndrome semapv:UnspecifiedMatching MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:UnspecifiedMatching MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch SCTID:718226002 semapv:UnspecifiedMatching MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch UMLS:C1956097 semapv:UnspecifiedMatching MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch mesh:D054877 semapv:UnspecifiedMatching MONDO:0008685 Wolff-Parkinson-White syndrome skos:exactMatch DOID:384 Wolff-Parkinson-White syndrome semapv:UnspecifiedMatching MONDO:0008685 Wolff-Parkinson-White syndrome skos:exactMatch NCIT:C35132 Wolff-Parkinson-White Syndrome semapv:UnspecifiedMatching MONDO:0008685 Wolff-Parkinson-White syndrome skos:exactMatch OMIM:194200 wolff-parkinson-white syndrome semapv:UnspecifiedMatching MONDO:0008685 Wolff-Parkinson-White syndrome skos:exactMatch SCTID:17869006 semapv:UnspecifiedMatching MONDO:0008685 Wolff-Parkinson-White syndrome skos:exactMatch mesh:D014927 semapv:UnspecifiedMatching MONDO:0008686 isolated familial wooly hair disorder skos:exactMatch DOID:0111572 familial woolly hair syndrome semapv:UnspecifiedMatching MONDO:0008686 isolated familial wooly hair disorder skos:exactMatch Orphanet:170 Woolly hair semapv:UnspecifiedMatching MONDO:0008686 isolated familial wooly hair disorder skos:exactMatch SCTID:52564001 semapv:UnspecifiedMatching MONDO:0008686 isolated familial wooly hair disorder skos:exactMatch UMLS:C0343073 semapv:UnspecifiedMatching MONDO:0008686 isolated familial wooly hair disorder skos:exactMatch mesh:C536745 semapv:UnspecifiedMatching MONDO:0008687 Woronets trait skos:exactMatch OMIM:194320 woronets trait semapv:UnspecifiedMatching MONDO:0008688 WT limb-blood syndrome skos:exactMatch OMIM:194350 wt limb-blood syndrome semapv:UnspecifiedMatching MONDO:0008688 WT limb-blood syndrome skos:exactMatch Orphanet:3466 WT limb-blood syndrome semapv:UnspecifiedMatching MONDO:0008688 WT limb-blood syndrome skos:exactMatch SCTID:719019000 semapv:UnspecifiedMatching MONDO:0008688 WT limb-blood syndrome skos:exactMatch UMLS:C1327917 semapv:UnspecifiedMatching MONDO:0008688 WT limb-blood syndrome skos:exactMatch mesh:C536751 semapv:UnspecifiedMatching MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:exactMatch DOID:0111576 dehydrated hereditary stomatocytosis 1 semapv:UnspecifiedMatching MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:exactMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:UnspecifiedMatching MONDO:0008690 xeroderma pigmentosum, autosomal dominant, mild skos:exactMatch OMIM:194400 xeroderma pigmentosum, autosomal dominant, mild semapv:UnspecifiedMatching MONDO:0008690 xeroderma pigmentosum, autosomal dominant, mild skos:exactMatch UMLS:C1860231 semapv:UnspecifiedMatching MONDO:0008690 xeroderma pigmentosum, autosomal dominant, mild skos:exactMatch mesh:C565989 semapv:UnspecifiedMatching MONDO:0008691 zinc, elevated plasma skos:exactMatch OMIM:194470 zinc, elevated plasma semapv:UnspecifiedMatching MONDO:0008692 abetalipoproteinemia skos:exactMatch DOID:1386 abetalipoproteinemia semapv:UnspecifiedMatching MONDO:0008692 abetalipoproteinemia skos:exactMatch NCIT:C84525 Abetalipoproteinemia semapv:UnspecifiedMatching MONDO:0008692 abetalipoproteinemia skos:exactMatch OMIM:200100 abetalipoproteinemia semapv:UnspecifiedMatching MONDO:0008692 abetalipoproteinemia skos:exactMatch Orphanet:14 Abetalipoproteinemia semapv:UnspecifiedMatching MONDO:0008692 abetalipoproteinemia skos:exactMatch SCTID:190787008 semapv:UnspecifiedMatching MONDO:0008692 abetalipoproteinemia skos:exactMatch UMLS:C0000744 semapv:UnspecifiedMatching MONDO:0008692 abetalipoproteinemia skos:exactMatch mesh:D000012 semapv:UnspecifiedMatching MONDO:0008693 ablepharon macrostomia syndrome skos:exactMatch DOID:0060550 ablepharon macrostomia syndrome semapv:UnspecifiedMatching MONDO:0008693 ablepharon macrostomia syndrome skos:exactMatch OMIM:200110 ablepharon-macrostomia syndrome semapv:UnspecifiedMatching MONDO:0008693 ablepharon macrostomia syndrome skos:exactMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:UnspecifiedMatching MONDO:0008693 ablepharon macrostomia syndrome skos:exactMatch SCTID:718575002 semapv:UnspecifiedMatching MONDO:0008693 ablepharon macrostomia syndrome skos:exactMatch UMLS:C1860224 semapv:UnspecifiedMatching MONDO:0008693 ablepharon macrostomia syndrome skos:exactMatch mesh:C535557 semapv:UnspecifiedMatching MONDO:0008694 pseudoprogeria syndrome skos:exactMatch OMIM:200130 absent eyebrows and eyelashes with mental retardation semapv:UnspecifiedMatching MONDO:0008694 pseudoprogeria syndrome skos:exactMatch Orphanet:2985 Pseudoprogeria syndrome semapv:UnspecifiedMatching MONDO:0008694 pseudoprogeria syndrome skos:exactMatch SCTID:733086003 semapv:UnspecifiedMatching MONDO:0008694 pseudoprogeria syndrome skos:exactMatch UMLS:C0796125 semapv:UnspecifiedMatching MONDO:0008694 pseudoprogeria syndrome skos:exactMatch mesh:C563111 semapv:UnspecifiedMatching MONDO:0008695 chorea-acanthocytosis skos:exactMatch DOID:0050766 choreaacanthocytosis semapv:UnspecifiedMatching MONDO:0008695 chorea-acanthocytosis skos:exactMatch OMIM:200150 choreoacanthocytosis semapv:UnspecifiedMatching MONDO:0008695 chorea-acanthocytosis skos:exactMatch Orphanet:2388 Choreoacanthocytosis semapv:UnspecifiedMatching MONDO:0008695 chorea-acanthocytosis skos:exactMatch SCTID:66881004 semapv:UnspecifiedMatching MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:exactMatch OMIM:200170 acanthosis nigricans with muscle cramps and acral enlargement semapv:UnspecifiedMatching MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:exactMatch Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome semapv:UnspecifiedMatching MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:exactMatch UMLS:C1860215 semapv:UnspecifiedMatching MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:exactMatch mesh:C536000 semapv:UnspecifiedMatching MONDO:0008697 obsolete acetophenetidin sensitivity skos:exactMatch OMIM:200300 acetophenetidin sensitivity semapv:UnspecifiedMatching MONDO:0008698 achalasia skos:exactMatch DOID:9164 achalasia semapv:UnspecifiedMatching MONDO:0008698 achalasia skos:exactMatch SCTID:235630008 semapv:UnspecifiedMatching MONDO:0008698 achalasia skos:exactMatch UMLS:C0014848 semapv:UnspecifiedMatching MONDO:0008699 achalasia microcephaly syndrome skos:exactMatch DOID:0050796 achalasia microcephaly syndrome semapv:UnspecifiedMatching MONDO:0008699 achalasia microcephaly syndrome skos:exactMatch OMIM:200450 achalasia-microcephaly syndrome semapv:UnspecifiedMatching MONDO:0008699 achalasia microcephaly syndrome skos:exactMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:UnspecifiedMatching MONDO:0008699 achalasia microcephaly syndrome skos:exactMatch SCTID:718573009 semapv:UnspecifiedMatching MONDO:0008699 achalasia microcephaly syndrome skos:exactMatch UMLS:C1860212 semapv:UnspecifiedMatching MONDO:0008699 achalasia microcephaly syndrome skos:exactMatch mesh:C536010 semapv:UnspecifiedMatching MONDO:0008700 acheiropody skos:exactMatch DOID:0050603 acheiropody semapv:UnspecifiedMatching MONDO:0008700 acheiropody skos:exactMatch OMIM:200500 acheiropody semapv:UnspecifiedMatching MONDO:0008700 acheiropody skos:exactMatch Orphanet:931 Acheiropodia semapv:UnspecifiedMatching MONDO:0008700 acheiropody skos:exactMatch SCTID:177504007 semapv:UnspecifiedMatching MONDO:0008700 acheiropody skos:exactMatch mesh:C536014 semapv:UnspecifiedMatching MONDO:0008701 achondrogenesis type IA skos:exactMatch DOID:0080054 achondrogenesis type IA semapv:UnspecifiedMatching MONDO:0008701 achondrogenesis type IA skos:exactMatch OMIM:200600 achondrogenesis, iia 1a semapv:UnspecifiedMatching MONDO:0008701 achondrogenesis type IA skos:exactMatch Orphanet:93299 Achondrogenesis type 1A semapv:UnspecifiedMatching MONDO:0008701 achondrogenesis type IA skos:exactMatch SCTID:42725006 semapv:UnspecifiedMatching MONDO:0008701 achondrogenesis type IA skos:exactMatch mesh:C536015 semapv:UnspecifiedMatching MONDO:0008702 achondrogenesis type II skos:exactMatch DOID:0080056 achondrogenesis type II semapv:UnspecifiedMatching MONDO:0008702 achondrogenesis type II skos:exactMatch OMIM:200610 achondrogenesis, iia 2 semapv:UnspecifiedMatching MONDO:0008702 achondrogenesis type II skos:exactMatch Orphanet:93296 Achondrogenesis type 2 semapv:UnspecifiedMatching MONDO:0008702 achondrogenesis type II skos:exactMatch mesh:C536017 semapv:UnspecifiedMatching MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch DOID:0080052 acromesomelic dysplasia, Grebe type semapv:UnspecifiedMatching MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch NCIT:C3816 Type II Achondrogenesis semapv:UnspecifiedMatching MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch OMIM:200700 acromesomelic dysplasia 2a semapv:UnspecifiedMatching MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:UnspecifiedMatching MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch UMLS:C0265260 semapv:UnspecifiedMatching MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch OMIM:200900 short-limb skeletal dysplasia with severe combined immunodeficiency semapv:UnspecifiedMatching MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:UnspecifiedMatching MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch UMLS:C1860168 semapv:UnspecifiedMatching MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch mesh:C565984 semapv:UnspecifiedMatching MONDO:0008705 lysosomal acid phosphatase deficiency skos:exactMatch OMIM:200950 acid phosphatase deficiency semapv:UnspecifiedMatching MONDO:0008705 lysosomal acid phosphatase deficiency skos:exactMatch Orphanet:35121 Lysosomal acid phosphatase deficiency semapv:UnspecifiedMatching MONDO:0008705 lysosomal acid phosphatase deficiency skos:exactMatch SCTID:57863006 semapv:UnspecifiedMatching MONDO:0008705 lysosomal acid phosphatase deficiency skos:exactMatch UMLS:C0268410 semapv:UnspecifiedMatching MONDO:0008705 lysosomal acid phosphatase deficiency skos:exactMatch mesh:C562645 semapv:UnspecifiedMatching MONDO:0008706 Ackerman syndrome skos:exactMatch OMIM:200970 ackerman syndrome semapv:UnspecifiedMatching MONDO:0008706 Ackerman syndrome skos:exactMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:UnspecifiedMatching MONDO:0008706 Ackerman syndrome skos:exactMatch SCTID:722280000 semapv:UnspecifiedMatching MONDO:0008706 Ackerman syndrome skos:exactMatch UMLS:C1860167 semapv:UnspecifiedMatching MONDO:0008706 Ackerman syndrome skos:exactMatch mesh:C538170 semapv:UnspecifiedMatching MONDO:0008707 acro-renal-mandibular syndrome skos:exactMatch OMIM:200980 acrorenal-mandibular syndrome semapv:UnspecifiedMatching MONDO:0008707 acro-renal-mandibular syndrome skos:exactMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:UnspecifiedMatching MONDO:0008707 acro-renal-mandibular syndrome skos:exactMatch SCTID:720414005 semapv:UnspecifiedMatching MONDO:0008707 acro-renal-mandibular syndrome skos:exactMatch UMLS:C1860166 semapv:UnspecifiedMatching MONDO:0008707 acro-renal-mandibular syndrome skos:exactMatch mesh:C535665 semapv:UnspecifiedMatching MONDO:0008708 acrocallosal syndrome skos:exactMatch DOID:9250 acrocallosal syndrome semapv:UnspecifiedMatching MONDO:0008708 acrocallosal syndrome skos:exactMatch NCIT:C84531 Acrocallosal Syndrome semapv:UnspecifiedMatching MONDO:0008708 acrocallosal syndrome skos:exactMatch OMIM:200990 acrocallosal syndrome semapv:UnspecifiedMatching MONDO:0008708 acrocallosal syndrome skos:exactMatch Orphanet:36 Acrocallosal syndrome semapv:UnspecifiedMatching MONDO:0008708 acrocallosal syndrome skos:exactMatch SCTID:715951007 semapv:UnspecifiedMatching MONDO:0008708 acrocallosal syndrome skos:exactMatch UMLS:C0796147 semapv:UnspecifiedMatching MONDO:0008708 acrocallosal syndrome skos:exactMatch mesh:D055673 semapv:UnspecifiedMatching MONDO:0008709 acrocephalopolydactyly skos:exactMatch OMIM:200995 acrocephalopolydactylous dysplasia semapv:UnspecifiedMatching MONDO:0008709 acrocephalopolydactyly skos:exactMatch Orphanet:221054 Acrocephalopolydactyly semapv:UnspecifiedMatching MONDO:0008709 acrocephalopolydactyly skos:exactMatch SCTID:720417003 semapv:UnspecifiedMatching MONDO:0008709 acrocephalopolydactyly skos:exactMatch UMLS:C3495588 semapv:UnspecifiedMatching MONDO:0008709 acrocephalopolydactyly skos:exactMatch mesh:C573722 semapv:UnspecifiedMatching MONDO:0008710 RAB23-related Carpenter syndrome skos:exactMatch OMIM:201000 carpenter syndrome 1 semapv:UnspecifiedMatching MONDO:0008710 RAB23-related Carpenter syndrome skos:exactMatch SCTID:205813009 semapv:UnspecifiedMatching MONDO:0008711 Goodman syndrome skos:exactMatch OMIM:201020 acrocephalopolysyndactyly iia 4 semapv:UnspecifiedMatching MONDO:0008711 Goodman syndrome skos:exactMatch Orphanet:65798 Goodman syndrome semapv:UnspecifiedMatching MONDO:0008711 Goodman syndrome skos:exactMatch SCTID:720600004 semapv:UnspecifiedMatching MONDO:0008711 Goodman syndrome skos:exactMatch mesh:C537287 semapv:UnspecifiedMatching MONDO:0008712 acrocraniofacial dysostosis skos:exactMatch OMIM:201050 acrocraniofacial dysostosis semapv:UnspecifiedMatching MONDO:0008712 acrocraniofacial dysostosis skos:exactMatch Orphanet:949 Acrocraniofacial dysostosis semapv:UnspecifiedMatching MONDO:0008712 acrocraniofacial dysostosis skos:exactMatch SCTID:720418008 semapv:UnspecifiedMatching MONDO:0008712 acrocraniofacial dysostosis skos:exactMatch UMLS:C1860145 semapv:UnspecifiedMatching MONDO:0008712 acrocraniofacial dysostosis skos:exactMatch mesh:C536892 semapv:UnspecifiedMatching MONDO:0008713 acrodermatitis enteropathica skos:exactMatch DOID:0050605 acrodermatitis enteropathica semapv:UnspecifiedMatching MONDO:0008713 acrodermatitis enteropathica skos:exactMatch NCIT:C128802 Acrodermatitis Enteropathica semapv:UnspecifiedMatching MONDO:0008713 acrodermatitis enteropathica skos:exactMatch OMIM:201100 acrodermatitis enteropathica, zinc-deficiency iia semapv:UnspecifiedMatching MONDO:0008713 acrodermatitis enteropathica skos:exactMatch Orphanet:37 Acrodermatitis enteropathica semapv:UnspecifiedMatching MONDO:0008713 acrodermatitis enteropathica skos:exactMatch SCTID:37702000 semapv:UnspecifiedMatching MONDO:0008713 acrodermatitis enteropathica skos:exactMatch UMLS:C0221036 semapv:UnspecifiedMatching MONDO:0008713 acrodermatitis enteropathica skos:exactMatch mesh:C538178 semapv:UnspecifiedMatching MONDO:0008714 acrofacial dysostosis Rodriguez type skos:exactMatch DOID:0060383 acrofacial dysostosis Rodriguez type semapv:UnspecifiedMatching MONDO:0008714 acrofacial dysostosis Rodriguez type skos:exactMatch OMIM:201170 acrofacial dysostosis syndrome of rodriguez semapv:UnspecifiedMatching MONDO:0008714 acrofacial dysostosis Rodriguez type skos:exactMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:UnspecifiedMatching MONDO:0008714 acrofacial dysostosis Rodriguez type skos:exactMatch SCTID:720430002 semapv:UnspecifiedMatching MONDO:0008714 acrofacial dysostosis Rodriguez type skos:exactMatch UMLS:C1860119 semapv:UnspecifiedMatching MONDO:0008714 acrofacial dysostosis Rodriguez type skos:exactMatch mesh:C538183 semapv:UnspecifiedMatching MONDO:0008715 acrofrontofacionasal dysostosis skos:exactMatch DOID:0060226 acrofrontofacionasal dysostosis semapv:UnspecifiedMatching MONDO:0008715 acrofrontofacionasal dysostosis skos:exactMatch Orphanet:1784 Acrofrontofacionasal dysostosis semapv:UnspecifiedMatching MONDO:0008715 acrofrontofacionasal dysostosis skos:exactMatch SCTID:720408003 semapv:UnspecifiedMatching MONDO:0008715 acrofrontofacionasal dysostosis skos:exactMatch UMLS:C1860118 semapv:UnspecifiedMatching MONDO:0008716 acrogeria skos:exactMatch OMIM:201200 acrogeria, gottron iia semapv:UnspecifiedMatching MONDO:0008716 acrogeria skos:exactMatch Orphanet:2500 Acrogeria semapv:UnspecifiedMatching MONDO:0008716 acrogeria skos:exactMatch SCTID:238872007 semapv:UnspecifiedMatching MONDO:0008716 acrogeria skos:exactMatch UMLS:C0406584 semapv:UnspecifiedMatching MONDO:0008716 acrogeria skos:exactMatch mesh:C538187 semapv:UnspecifiedMatching MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:exactMatch DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type semapv:UnspecifiedMatching MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:exactMatch OMIM:201250 acromesomelic dysplasia 2c semapv:UnspecifiedMatching MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:exactMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:UnspecifiedMatching MONDO:0008718 Morvan syndrome skos:exactMatch Orphanet:83467 Morvan syndrome semapv:UnspecifiedMatching MONDO:0008718 Morvan syndrome skos:exactMatch SCTID:763803004 semapv:UnspecifiedMatching MONDO:0008718 Morvan syndrome skos:exactMatch UMLS:C3854373 semapv:UnspecifiedMatching MONDO:0008719 acrorenal syndrome, autosomal recessive skos:exactMatch OMIM:201310 acrorenal syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO:0008719 acrorenal syndrome, autosomal recessive skos:exactMatch UMLS:C0796290 semapv:UnspecifiedMatching MONDO:0008719 acrorenal syndrome, autosomal recessive skos:exactMatch mesh:C535666 semapv:UnspecifiedMatching MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch DOID:0080150 adrenocorticotropic hormone deficiency semapv:UnspecifiedMatching MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch OMIM:201400 acth deficiency, isolated semapv:UnspecifiedMatching MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch Orphanet:199296 Congenital isolated ACTH deficiency semapv:UnspecifiedMatching MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch SCTID:237692001 semapv:UnspecifiedMatching MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch UMLS:C0342388 semapv:UnspecifiedMatching MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch mesh:C535668 semapv:UnspecifiedMatching MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch ICD10CM:E71.311 Medium chain acyl CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C84538 Medium-Chain Acyl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:UnspecifiedMatching MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch SCTID:128596003 semapv:UnspecifiedMatching MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C0220710 semapv:UnspecifiedMatching MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch mesh:C536038 semapv:UnspecifiedMatching MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch DOID:0080154 short chain acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch ICD10CM:E71.312 Short chain acyl CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C84539 Acyl-CoA Dehydrogenase, Short-Chain Deficiency semapv:UnspecifiedMatching MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:UnspecifiedMatching MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch mesh:C537596 semapv:UnspecifiedMatching MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch ICD10CM:E71.310 Long chain/very long chain acyl CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C98647 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:201475 acyl-coa dehydrogenase, very long-chain, deficiency of semapv:UnspecifiedMatching MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch SCTID:237997005 semapv:UnspecifiedMatching MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C3887523 semapv:UnspecifiedMatching MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:exactMatch OMIM:201550 adducted thumbs syndrome semapv:UnspecifiedMatching MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:exactMatch Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type semapv:UnspecifiedMatching MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:UnspecifiedMatching MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:UnspecifiedMatching MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch SCTID:44231009 semapv:UnspecifiedMatching MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch UMLS:C0342474 semapv:UnspecifiedMatching MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:exactMatch NCIT:C178415 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis semapv:UnspecifiedMatching MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:exactMatch OMIM:201750 antley-bixler syndrome with genital anomalies and disordered steroidogenesis semapv:UnspecifiedMatching MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:exactMatch Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis semapv:UnspecifiedMatching MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:exactMatch UMLS:C3150099 semapv:UnspecifiedMatching MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch NCIT:C131088 3-Beta-Hydroxysteroid Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:UnspecifiedMatching MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch SCTID:54470008 semapv:UnspecifiedMatching MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch mesh:C538236 semapv:UnspecifiedMatching MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch NCIT:C131087 21-Hydroxylase Deficiency semapv:UnspecifiedMatching MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch SCTID:124221007 semapv:UnspecifiedMatching MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch SCTID:717261006 semapv:UnspecifiedMatching MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch UMLS:C2936858 semapv:UnspecifiedMatching MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch mesh:C535979 semapv:UnspecifiedMatching MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch NCIT:C131085 11-Beta-Hydroxylase Deficiency semapv:UnspecifiedMatching MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch SCTID:124214007 semapv:UnspecifiedMatching MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch UMLS:C0268292 semapv:UnspecifiedMatching MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch mesh:C535978 semapv:UnspecifiedMatching MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch SCTID:124220008 semapv:UnspecifiedMatching MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:exactMatch OMIM:202150 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone semapv:UnspecifiedMatching MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:exactMatch Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:UnspecifiedMatching MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:exactMatch UMLS:C1859978 semapv:UnspecifiedMatching MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:exactMatch mesh:C565976 semapv:UnspecifiedMatching MONDO:0008732 adrenal hypoplasia, cytomegalic type skos:exactMatch OMIM:202155 adrenal hypoplasia, cytomegalic iia semapv:UnspecifiedMatching MONDO:0008732 adrenal hypoplasia, cytomegalic type skos:exactMatch UMLS:C1859977 semapv:UnspecifiedMatching MONDO:0008733 familial glucocorticoid deficiency skos:exactMatch DOID:0080620 familial glucocorticoid deficiency semapv:UnspecifiedMatching MONDO:0008733 familial glucocorticoid deficiency skos:exactMatch NCIT:C120446 Isolated Glucocorticoid Deficiency semapv:UnspecifiedMatching MONDO:0008733 familial glucocorticoid deficiency skos:exactMatch OMIMPS:202200 semapv:UnspecifiedMatching MONDO:0008733 familial glucocorticoid deficiency skos:exactMatch Orphanet:361 Familial glucocorticoid deficiency semapv:UnspecifiedMatching MONDO:0008733 familial glucocorticoid deficiency skos:exactMatch SCTID:765326001 semapv:UnspecifiedMatching MONDO:0008733 familial glucocorticoid deficiency skos:exactMatch UMLS:C4054695 semapv:UnspecifiedMatching MONDO:0008733 familial glucocorticoid deficiency skos:exactMatch mesh:C565974 semapv:UnspecifiedMatching MONDO:0008734 adrenocortical carcinoma, hereditary skos:exactMatch OMIM:202300 adrenocortical carcinoma, hereditary semapv:UnspecifiedMatching MONDO:0008734 adrenocortical carcinoma, hereditary skos:exactMatch UMLS:C1859972 semapv:UnspecifiedMatching MONDO:0008734 adrenocortical carcinoma, hereditary skos:exactMatch mesh:C565972 semapv:UnspecifiedMatching MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect skos:exactMatch OMIM:202355 adrenocortical unresponsiveness to acth with postreceptor defect semapv:UnspecifiedMatching MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect skos:exactMatch UMLS:C1859971 semapv:UnspecifiedMatching MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect skos:exactMatch mesh:C565971 semapv:UnspecifiedMatching MONDO:0008736 peroxisome biogenesis disorder 2B skos:exactMatch DOID:0080622 peroxisome biogenesis disorder 2B semapv:UnspecifiedMatching MONDO:0008736 peroxisome biogenesis disorder 2B skos:exactMatch NCIT:C155751 Peroxisome Biogenesis Disorder 2B semapv:UnspecifiedMatching MONDO:0008736 peroxisome biogenesis disorder 2B skos:exactMatch OMIM:202370 peroxisome biogenesis disorder 2b semapv:UnspecifiedMatching MONDO:0008736 peroxisome biogenesis disorder 2B skos:exactMatch UMLS:C3550234 semapv:UnspecifiedMatching MONDO:0008737 congenital afibrinogenemia skos:exactMatch DOID:2236 congenital afibrinogenemia semapv:UnspecifiedMatching MONDO:0008737 congenital afibrinogenemia skos:exactMatch NCIT:C98130 Afibrinogenemia semapv:UnspecifiedMatching MONDO:0008737 congenital afibrinogenemia skos:exactMatch OMIM:202400 afibrinogenemia, congenital semapv:UnspecifiedMatching MONDO:0008737 congenital afibrinogenemia skos:exactMatch Orphanet:98880 Familial afibrinogenemia semapv:UnspecifiedMatching MONDO:0008737 congenital afibrinogenemia skos:exactMatch SCTID:154818001 semapv:UnspecifiedMatching MONDO:0008737 congenital afibrinogenemia skos:exactMatch mesh:D000347 semapv:UnspecifiedMatching MONDO:0008738 aganglionosis, total intestinal skos:exactMatch NCIT:C101074 Total Intestinal Aganglionosis semapv:UnspecifiedMatching MONDO:0008738 aganglionosis, total intestinal skos:exactMatch OMIM:202550 aganglionosis, total intestinal semapv:UnspecifiedMatching MONDO:0008738 aganglionosis, total intestinal skos:exactMatch mesh:C538058 semapv:UnspecifiedMatching MONDO:0008739 agenesis of cerebral white matter skos:exactMatch OMIM:202600 agenesis of cerebral white matter semapv:UnspecifiedMatching MONDO:0008740 agnathia-otocephaly complex skos:exactMatch DOID:0060341 agnathia-otocephaly complex semapv:UnspecifiedMatching MONDO:0008740 agnathia-otocephaly complex skos:exactMatch NCIT:C124568 Otocephaly semapv:UnspecifiedMatching MONDO:0008740 agnathia-otocephaly complex skos:exactMatch OMIM:202650 agnathia-otocephaly complex semapv:UnspecifiedMatching MONDO:0008740 agnathia-otocephaly complex skos:exactMatch Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome semapv:UnspecifiedMatching MONDO:0008740 agnathia-otocephaly complex skos:exactMatch SCTID:48180002 semapv:UnspecifiedMatching MONDO:0008740 agnathia-otocephaly complex skos:exactMatch UMLS:C0265242 semapv:UnspecifiedMatching MONDO:0008741 PAGOD syndrome skos:exactMatch OMIM:202660 pagod syndrome semapv:UnspecifiedMatching MONDO:0008741 PAGOD syndrome skos:exactMatch Orphanet:991 PAGOD syndrome semapv:UnspecifiedMatching MONDO:0008741 PAGOD syndrome skos:exactMatch SCTID:722132007 semapv:UnspecifiedMatching MONDO:0008741 PAGOD syndrome skos:exactMatch UMLS:C1859967 semapv:UnspecifiedMatching MONDO:0008741 PAGOD syndrome skos:exactMatch mesh:C537018 semapv:UnspecifiedMatching MONDO:0008742 autosomal dominant severe congenital neutropenia skos:exactMatch DOID:0112130 autosomal dominant severe congenital neutropenia semapv:UnspecifiedMatching MONDO:0008742 autosomal dominant severe congenital neutropenia skos:exactMatch NCIT:C166155 Autosomal Dominant Severe Congenital Neutropenia semapv:UnspecifiedMatching MONDO:0008742 autosomal dominant severe congenital neutropenia skos:exactMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:UnspecifiedMatching MONDO:0008742 autosomal dominant severe congenital neutropenia skos:exactMatch UMLS:C4749612 semapv:UnspecifiedMatching MONDO:0008743 Stimmler syndrome skos:exactMatch OMIM:202900 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus semapv:UnspecifiedMatching MONDO:0008743 Stimmler syndrome skos:exactMatch Orphanet:3199 Stimmler syndrome semapv:UnspecifiedMatching MONDO:0008743 Stimmler syndrome skos:exactMatch SCTID:733072002 semapv:UnspecifiedMatching MONDO:0008743 Stimmler syndrome skos:exactMatch UMLS:C1859965 semapv:UnspecifiedMatching MONDO:0008743 Stimmler syndrome skos:exactMatch mesh:C565968 semapv:UnspecifiedMatching MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:exactMatch OMIM:203000 frontonasal dysplasia with alar clefts semapv:UnspecifiedMatching MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:exactMatch Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:UnspecifiedMatching MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:exactMatch UMLS:C1859964 semapv:UnspecifiedMatching MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:exactMatch mesh:C535967 semapv:UnspecifiedMatching MONDO:0008745 oculocutaneous albinism type 1A skos:exactMatch DOID:0070094 oculocutaneous albinism type IA semapv:UnspecifiedMatching MONDO:0008745 oculocutaneous albinism type 1A skos:exactMatch NCIT:C168731 Oculocutaneous Albinism Type 1A semapv:UnspecifiedMatching MONDO:0008745 oculocutaneous albinism type 1A skos:exactMatch OMIM:203100 albinism, oculocutaneous, iia 1a semapv:UnspecifiedMatching MONDO:0008745 oculocutaneous albinism type 1A skos:exactMatch Orphanet:79431 Oculocutaneous albinism type 1A semapv:UnspecifiedMatching MONDO:0008745 oculocutaneous albinism type 1A skos:exactMatch SCTID:6483008 semapv:UnspecifiedMatching MONDO:0008746 oculocutaneous albinism type 2 skos:exactMatch DOID:0070096 oculocutaneous albinism type II semapv:UnspecifiedMatching MONDO:0008746 oculocutaneous albinism type 2 skos:exactMatch OMIM:203200 albinism, oculocutaneous, iia 2 semapv:UnspecifiedMatching MONDO:0008746 oculocutaneous albinism type 2 skos:exactMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:UnspecifiedMatching MONDO:0008746 oculocutaneous albinism type 2 skos:exactMatch UMLS:C0268495 semapv:UnspecifiedMatching MONDO:0008746 oculocutaneous albinism type 2 skos:exactMatch mesh:C537730 semapv:UnspecifiedMatching MONDO:0008747 oculocutaneous albinism type 3 skos:exactMatch DOID:0070097 oculocutaneous albinism type III semapv:UnspecifiedMatching MONDO:0008747 oculocutaneous albinism type 3 skos:exactMatch OMIM:203290 albinism, oculocutaneous, iia 3 semapv:UnspecifiedMatching MONDO:0008747 oculocutaneous albinism type 3 skos:exactMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:UnspecifiedMatching MONDO:0008747 oculocutaneous albinism type 3 skos:exactMatch SCTID:63450009 semapv:UnspecifiedMatching MONDO:0008747 oculocutaneous albinism type 3 skos:exactMatch mesh:C537731 semapv:UnspecifiedMatching MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:exactMatch DOID:0060539 Hermansky-Pudlak syndrome 1 semapv:UnspecifiedMatching MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:exactMatch NCIT:C150367 Hermansky-Pudlak Syndrome 1 semapv:UnspecifiedMatching MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:exactMatch OMIM:203300 hermansky-pudlak syndrome 1 semapv:UnspecifiedMatching MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:exactMatch UMLS:C2931875 semapv:UnspecifiedMatching MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:exactMatch mesh:C538539 semapv:UnspecifiedMatching MONDO:0008749 pseudohypoparathyroidism type 2 skos:exactMatch OMIM:203330 pseudohypoparathyroidism, iia 2 semapv:UnspecifiedMatching MONDO:0008749 pseudohypoparathyroidism type 2 skos:exactMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:UnspecifiedMatching MONDO:0008749 pseudohypoparathyroidism type 2 skos:exactMatch SCTID:42183005 semapv:UnspecifiedMatching MONDO:0008749 pseudohypoparathyroidism type 2 skos:exactMatch UMLS:C2932717 semapv:UnspecifiedMatching MONDO:0008749 pseudohypoparathyroidism type 2 skos:exactMatch mesh:C548077 semapv:UnspecifiedMatching MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:exactMatch OMIM:203340 albinism-microcephaly-digital anomalies syndrome semapv:UnspecifiedMatching MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:exactMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:UnspecifiedMatching MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:exactMatch SCTID:719377004 semapv:UnspecifiedMatching MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:exactMatch UMLS:C1859910 semapv:UnspecifiedMatching MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:exactMatch mesh:C537322 semapv:UnspecifiedMatching MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:exactMatch DOID:0080626 corticosterone methyloxidase deficiency 1 semapv:UnspecifiedMatching MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:exactMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:UnspecifiedMatching MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:exactMatch SCTID:47757001 semapv:UnspecifiedMatching MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:exactMatch UMLS:C0268293 semapv:UnspecifiedMatching MONDO:0008752 Alexander disease skos:exactMatch DOID:4252 Alexander disease semapv:UnspecifiedMatching MONDO:0008752 Alexander disease skos:exactMatch NCIT:C84545 Alexander Disease semapv:UnspecifiedMatching MONDO:0008752 Alexander disease skos:exactMatch OMIM:203450 alexander disease semapv:UnspecifiedMatching MONDO:0008752 Alexander disease skos:exactMatch Orphanet:58 Alexander disease semapv:UnspecifiedMatching MONDO:0008752 Alexander disease skos:exactMatch SCTID:81854007 semapv:UnspecifiedMatching MONDO:0008752 Alexander disease skos:exactMatch UMLS:C0270726 semapv:UnspecifiedMatching MONDO:0008752 Alexander disease skos:exactMatch mesh:D038261 semapv:UnspecifiedMatching MONDO:0008753 alkaptonuria skos:exactMatch DOID:9270 alkaptonuria semapv:UnspecifiedMatching MONDO:0008753 alkaptonuria skos:exactMatch NCIT:C84546 Alkaptonuria semapv:UnspecifiedMatching MONDO:0008753 alkaptonuria skos:exactMatch OMIM:203500 alkaptonuria semapv:UnspecifiedMatching MONDO:0008753 alkaptonuria skos:exactMatch Orphanet:56 Alkaptonuria semapv:UnspecifiedMatching MONDO:0008753 alkaptonuria skos:exactMatch SCTID:360378009 semapv:UnspecifiedMatching MONDO:0008753 alkaptonuria skos:exactMatch UMLS:C0002066 semapv:UnspecifiedMatching MONDO:0008753 alkaptonuria skos:exactMatch mesh:D000474 semapv:UnspecifiedMatching MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:exactMatch OMIM:203550 alopecia-contractures-dwarfism mental retardation syndrome semapv:UnspecifiedMatching MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:exactMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:exactMatch UMLS:C0795895 semapv:UnspecifiedMatching MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:exactMatch mesh:C537051 semapv:UnspecifiedMatching MONDO:0008755 Moynahan syndrome skos:exactMatch OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan semapv:UnspecifiedMatching MONDO:0008755 Moynahan syndrome skos:exactMatch Orphanet:2574 Moynahan syndrome semapv:UnspecifiedMatching MONDO:0008755 Moynahan syndrome skos:exactMatch mesh:C537052 semapv:UnspecifiedMatching MONDO:0008756 alopecia - intellectual disability syndrome skos:exactMatch DOID:0080627 alopecia-mental retardation syndrome semapv:UnspecifiedMatching MONDO:0008756 alopecia - intellectual disability syndrome skos:exactMatch OMIMPS:203650 semapv:UnspecifiedMatching MONDO:0008756 alopecia - intellectual disability syndrome skos:exactMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0008756 alopecia - intellectual disability syndrome skos:exactMatch SCTID:716191002 semapv:UnspecifiedMatching MONDO:0008757 alopecia universalis congenita skos:exactMatch DOID:0050634 alopecia universalis semapv:UnspecifiedMatching MONDO:0008757 alopecia universalis congenita skos:exactMatch OMIM:203655 alopecia universalis congenita semapv:UnspecifiedMatching MONDO:0008757 alopecia universalis congenita skos:exactMatch Orphanet:701 Alopecia universalis semapv:UnspecifiedMatching MONDO:0008757 alopecia universalis congenita skos:exactMatch SCTID:86166000 semapv:UnspecifiedMatching MONDO:0008757 alopecia universalis congenita skos:exactMatch UMLS:C1859877 semapv:UnspecifiedMatching MONDO:0008757 alopecia universalis congenita skos:exactMatch mesh:C537055 semapv:UnspecifiedMatching MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch DOID:0080122 Alpers-Huttenlocher syndrome semapv:UnspecifiedMatching MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch NCIT:C35257 Alper Syndrome semapv:UnspecifiedMatching MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:UnspecifiedMatching MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:UnspecifiedMatching MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch SCTID:20415001 semapv:UnspecifiedMatching MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch UMLS:C0205710 semapv:UnspecifiedMatching MONDO:0008759 oxoglutaricaciduria skos:exactMatch DOID:0081326 oxoglutarate dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008759 oxoglutaricaciduria skos:exactMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0008759 oxoglutaricaciduria skos:exactMatch Orphanet:31 Oxoglutaric aciduria semapv:UnspecifiedMatching MONDO:0008759 oxoglutaricaciduria skos:exactMatch SCTID:733630004 semapv:UnspecifiedMatching MONDO:0008759 oxoglutaricaciduria skos:exactMatch UMLS:C2752074 semapv:UnspecifiedMatching MONDO:0008759 oxoglutaricaciduria skos:exactMatch mesh:C536582 semapv:UnspecifiedMatching MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch DOID:14723 beta-ketothiolase deficiency semapv:UnspecifiedMatching MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch NCIT:C98841 Alpha-Methylacetoacetic Aciduria semapv:UnspecifiedMatching MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:UnspecifiedMatching MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch Orphanet:134 Beta-ketothiolase deficiency semapv:UnspecifiedMatching MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch mesh:C535434 semapv:UnspecifiedMatching MONDO:0008761 obsolete alpha-2-deficient collagen disease skos:exactMatch OMIM:203760 alpha-2-deficient collagen disease semapv:UnspecifiedMatching MONDO:0008761 obsolete alpha-2-deficient collagen disease skos:exactMatch UMLS:C1859850 semapv:UnspecifiedMatching MONDO:0008761 obsolete alpha-2-deficient collagen disease skos:exactMatch mesh:C565963 semapv:UnspecifiedMatching MONDO:0008762 autosomal recessive Alport syndrome skos:exactMatch DOID:0110033 autosomal recessive Alport syndrome semapv:UnspecifiedMatching MONDO:0008762 autosomal recessive Alport syndrome skos:exactMatch OMIM:203780 alport syndrome 2, autosomal recessive semapv:UnspecifiedMatching MONDO:0008762 autosomal recessive Alport syndrome skos:exactMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:UnspecifiedMatching MONDO:0008762 autosomal recessive Alport syndrome skos:exactMatch SCTID:717767009 semapv:UnspecifiedMatching MONDO:0008763 Alstrom syndrome skos:exactMatch DOID:0050473 Alstrom syndrome semapv:UnspecifiedMatching MONDO:0008763 Alstrom syndrome skos:exactMatch NCIT:C84549 Alstrom Syndrome semapv:UnspecifiedMatching MONDO:0008763 Alstrom syndrome skos:exactMatch OMIM:203800 alstrom syndrome semapv:UnspecifiedMatching MONDO:0008763 Alstrom syndrome skos:exactMatch Orphanet:64 Alström syndrome semapv:UnspecifiedMatching MONDO:0008763 Alstrom syndrome skos:exactMatch SCTID:63702009 semapv:UnspecifiedMatching MONDO:0008763 Alstrom syndrome skos:exactMatch UMLS:C0268425 semapv:UnspecifiedMatching MONDO:0008763 Alstrom syndrome skos:exactMatch mesh:D056769 semapv:UnspecifiedMatching MONDO:0008764 Leber congenital amaurosis 1 skos:exactMatch DOID:0110078 Leber congenital amaurosis 1 semapv:UnspecifiedMatching MONDO:0008764 Leber congenital amaurosis 1 skos:exactMatch OMIM:204000 leber congenital amaurosis 1 semapv:UnspecifiedMatching MONDO:0008765 Leber congenital amaurosis 2 skos:exactMatch DOID:0110016 Leber congenital amaurosis 2 semapv:UnspecifiedMatching MONDO:0008765 Leber congenital amaurosis 2 skos:exactMatch OMIM:204100 leber congenital amaurosis 2 semapv:UnspecifiedMatching MONDO:0008765 Leber congenital amaurosis 2 skos:exactMatch UMLS:C1859844 semapv:UnspecifiedMatching MONDO:0008765 Leber congenital amaurosis 2 skos:exactMatch mesh:C536601 semapv:UnspecifiedMatching MONDO:0008766 amaurosis-hypertrichosis syndrome skos:exactMatch OMIM:204110 amaurosis congenita, cone-rod type, with congenital hypertrichosis semapv:UnspecifiedMatching MONDO:0008766 amaurosis-hypertrichosis syndrome skos:exactMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:UnspecifiedMatching MONDO:0008766 amaurosis-hypertrichosis syndrome skos:exactMatch SCTID:720983002 semapv:UnspecifiedMatching MONDO:0008766 amaurosis-hypertrichosis syndrome skos:exactMatch mesh:C536604 semapv:UnspecifiedMatching MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:exactMatch DOID:0110731 neuronal ceroid lipofuscinosis 3 semapv:UnspecifiedMatching MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:exactMatch NCIT:C61258 Neuronal Ceroid Lipofuscinosis Type 3 semapv:UnspecifiedMatching MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:exactMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:UnspecifiedMatching MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:exactMatch Orphanet:228346 OBSOLETE: CLN3 disease semapv:UnspecifiedMatching MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:exactMatch DOID:0110730 neuronal ceroid lipofuscinosis 6B semapv:UnspecifiedMatching MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:exactMatch OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) semapv:UnspecifiedMatching MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:exactMatch Orphanet:228340 OBSOLETE: CLN4A disease semapv:UnspecifiedMatching MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:exactMatch DOID:0110726 neuronal ceroid lipofuscinosis 2 semapv:UnspecifiedMatching MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:exactMatch NCIT:C85864 Neuronal Ceroid Lipofuscinosis Type 2 semapv:UnspecifiedMatching MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:exactMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:UnspecifiedMatching MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:exactMatch Orphanet:228349 OBSOLETE: CLN2 disease semapv:UnspecifiedMatching MONDO:0008770 amelogenesis imperfecta type 1C skos:exactMatch DOID:0110056 amelogenesis imperfecta type 1C semapv:UnspecifiedMatching MONDO:0008770 amelogenesis imperfecta type 1C skos:exactMatch OMIM:204650 amelogenesis imperfecta, iia 1c semapv:UnspecifiedMatching MONDO:0008770 amelogenesis imperfecta type 1C skos:exactMatch UMLS:C2673923 semapv:UnspecifiedMatching MONDO:0008770 amelogenesis imperfecta type 1C skos:exactMatch mesh:C567147 semapv:UnspecifiedMatching MONDO:0008771 amelogenesis imperfecta type 1G skos:exactMatch DOID:0110066 amelogenesis imperfecta type 1G semapv:UnspecifiedMatching MONDO:0008771 amelogenesis imperfecta type 1G skos:exactMatch OMIM:204690 amelogenesis imperfecta, iia 1g semapv:UnspecifiedMatching MONDO:0008771 amelogenesis imperfecta type 1G skos:exactMatch Orphanet:1031 Enamel-renal syndrome semapv:UnspecifiedMatching MONDO:0008771 amelogenesis imperfecta type 1G skos:exactMatch SCTID:109477002 semapv:UnspecifiedMatching MONDO:0008771 amelogenesis imperfecta type 1G skos:exactMatch UMLS:C2931783 semapv:UnspecifiedMatching MONDO:0008771 amelogenesis imperfecta type 1G skos:exactMatch mesh:C538241 semapv:UnspecifiedMatching MONDO:0008772 amelogenesis imperfecta type 2A1 skos:exactMatch DOID:0110057 amelogenesis imperfecta type 2A1 semapv:UnspecifiedMatching MONDO:0008772 amelogenesis imperfecta type 2A1 skos:exactMatch OMIM:204700 amelogenesis imperfecta, hypomaturation type, iia1 semapv:UnspecifiedMatching MONDO:0008772 amelogenesis imperfecta type 2A1 skos:exactMatch mesh:C538242 semapv:UnspecifiedMatching MONDO:0008772 amelogenesis imperfecta type 2A1 skos:exactMatch mesh:C567146 semapv:UnspecifiedMatching MONDO:0008773 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis skos:exactMatch OMIM:204730 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis semapv:UnspecifiedMatching MONDO:0008773 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis skos:exactMatch UMLS:C1859818 semapv:UnspecifiedMatching MONDO:0008773 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis skos:exactMatch mesh:C565960 semapv:UnspecifiedMatching MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch DOID:0111453 2-aminoadipic 2-oxoadipic aciduria semapv:UnspecifiedMatching MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch OMIM:204750 alpha-aminoadipic and alpha-ketoadipic aciduria semapv:UnspecifiedMatching MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria semapv:UnspecifiedMatching MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch UMLS:C1859817 semapv:UnspecifiedMatching MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch mesh:C565453 semapv:UnspecifiedMatching MONDO:0008775 Amobarbital, deficient N-hydroxylation of skos:exactMatch OMIM:204800 amobarbital, deficient n-hydroxylation of semapv:UnspecifiedMatching MONDO:0008775 Amobarbital, deficient N-hydroxylation of skos:exactMatch UMLS:C1859816 semapv:UnspecifiedMatching MONDO:0008775 Amobarbital, deficient N-hydroxylation of skos:exactMatch mesh:C565959 semapv:UnspecifiedMatching MONDO:0008776 amyloidosis of gingiva and conjunctiva, with intellectual disability skos:exactMatch OMIM:204850 amyloidosis of gingiva and conjunctiva with impaired intellectual development semapv:UnspecifiedMatching MONDO:0008776 amyloidosis of gingiva and conjunctiva, with intellectual disability skos:exactMatch UMLS:C1859815 semapv:UnspecifiedMatching MONDO:0008776 amyloidosis of gingiva and conjunctiva, with intellectual disability skos:exactMatch mesh:C565958 semapv:UnspecifiedMatching MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch DOID:0060449 gelatinous drop-like corneal dystrophy semapv:UnspecifiedMatching MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch NCIT:C142805 Gelatinous Drop-Like Corneal Dystrophy semapv:UnspecifiedMatching MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:UnspecifiedMatching MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:UnspecifiedMatching MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch UMLS:C0339273 semapv:UnspecifiedMatching MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch mesh:C535480 semapv:UnspecifiedMatching MONDO:0008778 amyloidosis, cutaneous bullous skos:exactMatch OMIM:204900 amyloidosis, cutaneous bullous semapv:UnspecifiedMatching MONDO:0008778 amyloidosis, cutaneous bullous skos:exactMatch SCTID:38606009 semapv:UnspecifiedMatching MONDO:0008778 amyloidosis, cutaneous bullous skos:exactMatch UMLS:C0268399 semapv:UnspecifiedMatching MONDO:0008778 amyloidosis, cutaneous bullous skos:exactMatch mesh:C562644 semapv:UnspecifiedMatching MONDO:0008779 arthrogryposis skos:exactMatch NCIT:C84572 Arthrogryposis semapv:UnspecifiedMatching MONDO:0008779 arthrogryposis skos:exactMatch mesh:D001176 semapv:UnspecifiedMatching MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:exactMatch DOID:0060194 amyotrophic lateral sclerosis type 2 semapv:UnspecifiedMatching MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:exactMatch OMIM:205100 amyotrophic lateral sclerosis 2, juvenile semapv:UnspecifiedMatching MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:exactMatch mesh:C565957 semapv:UnspecifiedMatching MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:exactMatch DOID:0110067 juvenile amyotrophic lateral sclerosis with dementia semapv:UnspecifiedMatching MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:exactMatch OMIM:205200 amyotrophic lateral sclerosis, juvenile, with dementia semapv:UnspecifiedMatching MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:exactMatch UMLS:C1859806 semapv:UnspecifiedMatching MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:exactMatch mesh:C565956 semapv:UnspecifiedMatching MONDO:0008782 amyotrophic lateral sclerosis with polyglucosan bodies skos:exactMatch OMIM:205250 amyotrophic lateral sclerosis with polyglucosan bodies semapv:UnspecifiedMatching MONDO:0008782 amyotrophic lateral sclerosis with polyglucosan bodies skos:exactMatch UMLS:C1859805 semapv:UnspecifiedMatching MONDO:0008782 amyotrophic lateral sclerosis with polyglucosan bodies skos:exactMatch mesh:C565955 semapv:UnspecifiedMatching MONDO:0008783 Tangier disease skos:exactMatch DOID:1388 Tangier disease semapv:UnspecifiedMatching MONDO:0008783 Tangier disease skos:exactMatch NCIT:C85182 Tangier Disease semapv:UnspecifiedMatching MONDO:0008783 Tangier disease skos:exactMatch OMIM:205400 tangier disease semapv:UnspecifiedMatching MONDO:0008783 Tangier disease skos:exactMatch Orphanet:31150 Tangier disease semapv:UnspecifiedMatching MONDO:0008783 Tangier disease skos:exactMatch SCTID:723579009 semapv:UnspecifiedMatching MONDO:0008783 Tangier disease skos:exactMatch UMLS:C0039292 semapv:UnspecifiedMatching MONDO:0008783 Tangier disease skos:exactMatch mesh:D013631 semapv:UnspecifiedMatching MONDO:0008785 sideroblastic anemia 2 skos:exactMatch DOID:0060065 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 semapv:UnspecifiedMatching MONDO:0008785 sideroblastic anemia 2 skos:exactMatch OMIM:205950 anemia, sideroblastic, 2, pyridoxine-refractory semapv:UnspecifiedMatching MONDO:0008785 sideroblastic anemia 2 skos:exactMatch mesh:C567145 semapv:UnspecifiedMatching MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:exactMatch DOID:0060066 pyridoxine-responsive sideroblastic anemia semapv:UnspecifiedMatching MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:exactMatch OMIM:206000 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive semapv:UnspecifiedMatching MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:exactMatch SCTID:191260004 semapv:UnspecifiedMatching MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:exactMatch UMLS:C1859787 semapv:UnspecifiedMatching MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:exactMatch mesh:C565954 semapv:UnspecifiedMatching MONDO:0008787 microcytic anemia with liver iron overload skos:exactMatch OMIM:206100 anemia, hypochromic microcytic, with iron overload 1 semapv:UnspecifiedMatching MONDO:0008787 microcytic anemia with liver iron overload skos:exactMatch Orphanet:83642 Microcytic anemia with liver iron overload semapv:UnspecifiedMatching MONDO:0008787 microcytic anemia with liver iron overload skos:exactMatch SCTID:711161006 semapv:UnspecifiedMatching MONDO:0008788 IRIDA syndrome skos:exactMatch OMIM:206200 iron-refractory iron deficiency anemia semapv:UnspecifiedMatching MONDO:0008788 IRIDA syndrome skos:exactMatch Orphanet:209981 IRIDA syndrome semapv:UnspecifiedMatching MONDO:0008788 IRIDA syndrome skos:exactMatch SCTID:722005000 semapv:UnspecifiedMatching MONDO:0008788 IRIDA syndrome skos:exactMatch mesh:C562385 semapv:UnspecifiedMatching MONDO:0008789 anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane skos:exactMatch OMIM:206300 anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane semapv:UnspecifiedMatching MONDO:0008789 anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane skos:exactMatch UMLS:C1859786 semapv:UnspecifiedMatching MONDO:0008789 anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane skos:exactMatch mesh:C565953 semapv:UnspecifiedMatching MONDO:0008790 anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism skos:exactMatch OMIM:206400 anemia, nonspherocytic hemolytic, possibly due to defect 1n porphyrin metabolism semapv:UnspecifiedMatching MONDO:0008790 anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism skos:exactMatch UMLS:C1859785 semapv:UnspecifiedMatching MONDO:0008790 anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism skos:exactMatch mesh:C565952 semapv:UnspecifiedMatching MONDO:0008791 anencephaly 1 skos:exactMatch OMIM:206500 anencephaly 1 semapv:UnspecifiedMatching MONDO:0008791 anencephaly 1 skos:exactMatch Orphanet:1048 Isolated anencephaly/exencephaly semapv:UnspecifiedMatching MONDO:0008791 anencephaly 1 skos:exactMatch SCTID:89369001 semapv:UnspecifiedMatching MONDO:0008792 familial angiolipomatosis skos:exactMatch OMIM:206550 angiolipomatosis, familial semapv:UnspecifiedMatching MONDO:0008792 familial angiolipomatosis skos:exactMatch Orphanet:199279 Familial angiolipomatosis semapv:UnspecifiedMatching MONDO:0008792 familial angiolipomatosis skos:exactMatch UMLS:C1859784 semapv:UnspecifiedMatching MONDO:0008792 familial angiolipomatosis skos:exactMatch mesh:C565951 semapv:UnspecifiedMatching MONDO:0008793 angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert skos:exactMatch OMIM:206570 angiomatosis, diffuse corticomeningeal, of divry and van bogaert semapv:UnspecifiedMatching MONDO:0008793 angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert skos:exactMatch UMLS:C1859783 semapv:UnspecifiedMatching MONDO:0008793 angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert skos:exactMatch mesh:C536367 semapv:UnspecifiedMatching MONDO:0008794 anhidrosis, familial generalized, with abnormal or absent sweat glands skos:exactMatch OMIM:206600 anhidrosis, familial generalized, with abnormal or absent sweat glands semapv:UnspecifiedMatching MONDO:0008794 anhidrosis, familial generalized, with abnormal or absent sweat glands skos:exactMatch UMLS:C4225670 semapv:UnspecifiedMatching MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:exactMatch DOID:0111578 Gillespie syndrome semapv:UnspecifiedMatching MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:exactMatch OMIM:206700 gillespie syndrome semapv:UnspecifiedMatching MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:exactMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:exactMatch SCTID:253176002 semapv:UnspecifiedMatching MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:exactMatch UMLS:C0431401 semapv:UnspecifiedMatching MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:exactMatch mesh:C536370 semapv:UnspecifiedMatching MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:exactMatch OMIM:206750 aniridia, partial, with unilateral renal agenesis and psychomotor retardation semapv:UnspecifiedMatching MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:exactMatch Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome semapv:UnspecifiedMatching MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:exactMatch SCTID:733116005 semapv:UnspecifiedMatching MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:exactMatch UMLS:C1859782 semapv:UnspecifiedMatching MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:exactMatch mesh:C000598722 semapv:UnspecifiedMatching MONDO:0008797 anodontia skos:exactMatch DOID:13714 anodontia semapv:UnspecifiedMatching MONDO:0008797 anodontia skos:exactMatch ICD10CM:K00.0 Anodontia semapv:UnspecifiedMatching MONDO:0008797 anodontia skos:exactMatch OMIM:206780 anodontia of permanent dentition semapv:UnspecifiedMatching MONDO:0008797 anodontia skos:exactMatch Orphanet:99797 Anodontia semapv:UnspecifiedMatching MONDO:0008797 anodontia skos:exactMatch SCTID:16958000 semapv:UnspecifiedMatching MONDO:0008797 anodontia skos:exactMatch mesh:D000848 semapv:UnspecifiedMatching MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:exactMatch DOID:0080082 nonsyndromic congenital nail disorder 4 semapv:UnspecifiedMatching MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:exactMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:UnspecifiedMatching MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:exactMatch Orphanet:94150 Anonychia congenita totalis semapv:UnspecifiedMatching MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:exactMatch mesh:C536377 semapv:UnspecifiedMatching MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch DOID:0111801 syndromic microphthalmia 3 semapv:UnspecifiedMatching MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch OMIM:206900 microphthalmia, syndromic 3 semapv:UnspecifiedMatching MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome semapv:UnspecifiedMatching MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch SCTID:698851003 semapv:UnspecifiedMatching MONDO:0008800 microphthalmia with limb anomalies skos:exactMatch DOID:0060861 microphthalmia with limb anomalies semapv:UnspecifiedMatching MONDO:0008800 microphthalmia with limb anomalies skos:exactMatch OMIM:206920 microphthalmia with limb anomalies semapv:UnspecifiedMatching MONDO:0008800 microphthalmia with limb anomalies skos:exactMatch Orphanet:1106 Microphthalmia with limb anomalies semapv:UnspecifiedMatching MONDO:0008800 microphthalmia with limb anomalies skos:exactMatch SCTID:703403003 semapv:UnspecifiedMatching MONDO:0008800 microphthalmia with limb anomalies skos:exactMatch mesh:C537769 semapv:UnspecifiedMatching MONDO:0008801 anosmia for isobutyric acid skos:exactMatch OMIM:207000 anosmia for isobutyric acid semapv:UnspecifiedMatching MONDO:0008802 antithrombin, familial hemorrhagic diathesis due to skos:exactMatch OMIM:207300 antithrombin, familial hemorrhagic diathesis due to semapv:UnspecifiedMatching MONDO:0008802 antithrombin, familial hemorrhagic diathesis due to skos:exactMatch UMLS:C1859761 semapv:UnspecifiedMatching MONDO:0008802 antithrombin, familial hemorrhagic diathesis due to skos:exactMatch mesh:C565947 semapv:UnspecifiedMatching MONDO:0008803 Antley-Bixler syndrome skos:exactMatch DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis semapv:UnspecifiedMatching MONDO:0008803 Antley-Bixler syndrome skos:exactMatch DOID:0081289 Antley-Bixler syndrome semapv:UnspecifiedMatching MONDO:0008803 Antley-Bixler syndrome skos:exactMatch Orphanet:83 Antley-Bixler syndrome semapv:UnspecifiedMatching MONDO:0008803 Antley-Bixler syndrome skos:exactMatch SCTID:62964007 semapv:UnspecifiedMatching MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:exactMatch OMIM:207620 aphalangy with hemivertebrae semapv:UnspecifiedMatching MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:exactMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:UnspecifiedMatching MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:exactMatch SCTID:733118006 semapv:UnspecifiedMatching MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:exactMatch UMLS:C1859754 semapv:UnspecifiedMatching MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:exactMatch mesh:C535881 semapv:UnspecifiedMatching MONDO:0008807 obsolete apnea, central sleep skos:exactMatch OMIM:107640 apnea, central sleep semapv:UnspecifiedMatching MONDO:0008807 obsolete apnea, central sleep skos:exactMatch OMIM:207720 apnea, central sleep semapv:UnspecifiedMatching MONDO:0008807 obsolete apnea, central sleep skos:exactMatch UMLS:C0520680 semapv:UnspecifiedMatching MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:exactMatch OMIM:207731 aplasia cutis congenita with intestinal lymphangiectasia semapv:UnspecifiedMatching MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:exactMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:UnspecifiedMatching MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:exactMatch SCTID:720500008 semapv:UnspecifiedMatching MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:exactMatch mesh:C537788 semapv:UnspecifiedMatching MONDO:0008809 polyneuropathy-hand defect syndrome skos:exactMatch OMIM:207740 aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy semapv:UnspecifiedMatching MONDO:0008809 polyneuropathy-hand defect syndrome skos:exactMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:UnspecifiedMatching MONDO:0008809 polyneuropathy-hand defect syndrome skos:exactMatch UMLS:C1859752 semapv:UnspecifiedMatching MONDO:0008809 polyneuropathy-hand defect syndrome skos:exactMatch mesh:C535624 semapv:UnspecifiedMatching MONDO:0008810 familial apolipoprotein C-II deficiency skos:exactMatch DOID:0111418 familial apolipoprotein C-II deficiency semapv:UnspecifiedMatching MONDO:0008810 familial apolipoprotein C-II deficiency skos:exactMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:UnspecifiedMatching MONDO:0008810 familial apolipoprotein C-II deficiency skos:exactMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:UnspecifiedMatching MONDO:0008810 familial apolipoprotein C-II deficiency skos:exactMatch SCTID:33513003 semapv:UnspecifiedMatching MONDO:0008810 familial apolipoprotein C-II deficiency skos:exactMatch UMLS:C1720779 semapv:UnspecifiedMatching MONDO:0008811 XK aprosencephaly skos:exactMatch OMIM:207770 aprosencephaly syndrome semapv:UnspecifiedMatching MONDO:0008811 XK aprosencephaly skos:exactMatch Orphanet:3469 XK aprosencephaly syndrome semapv:UnspecifiedMatching MONDO:0008811 XK aprosencephaly skos:exactMatch SCTID:277921008 semapv:UnspecifiedMatching MONDO:0008811 XK aprosencephaly skos:exactMatch UMLS:C0795952 semapv:UnspecifiedMatching MONDO:0008811 XK aprosencephaly skos:exactMatch mesh:C536767 semapv:UnspecifiedMatching MONDO:0008812 AREDYLD syndrome skos:exactMatch OMIM:207780 aredyld semapv:UnspecifiedMatching MONDO:0008812 AREDYLD syndrome skos:exactMatch Orphanet:1133 AREDYLD syndrome semapv:UnspecifiedMatching MONDO:0008812 AREDYLD syndrome skos:exactMatch SCTID:237610008 semapv:UnspecifiedMatching MONDO:0008812 AREDYLD syndrome skos:exactMatch UMLS:C0342280 semapv:UnspecifiedMatching MONDO:0008812 AREDYLD syndrome skos:exactMatch mesh:C537427 semapv:UnspecifiedMatching MONDO:0008813 arachnoid cyst skos:exactMatch NCIT:C3455 Arachnoid Cyst semapv:UnspecifiedMatching MONDO:0008813 arachnoid cyst skos:exactMatch Orphanet:2356 Arachnoid cyst semapv:UnspecifiedMatching MONDO:0008813 arachnoid cyst skos:exactMatch SCTID:33595009 semapv:UnspecifiedMatching MONDO:0008813 arachnoid cyst skos:exactMatch UMLS:C0078981 semapv:UnspecifiedMatching MONDO:0008813 arachnoid cyst skos:exactMatch mesh:D016080 semapv:UnspecifiedMatching MONDO:0008814 hyperargininemia skos:exactMatch DOID:9278 hyperargininemia semapv:UnspecifiedMatching MONDO:0008814 hyperargininemia skos:exactMatch NCIT:C84568 Argininemia semapv:UnspecifiedMatching MONDO:0008814 hyperargininemia skos:exactMatch OMIM:207800 argininemia semapv:UnspecifiedMatching MONDO:0008814 hyperargininemia skos:exactMatch Orphanet:90 Argininemia semapv:UnspecifiedMatching MONDO:0008814 hyperargininemia skos:exactMatch SCTID:23501004 semapv:UnspecifiedMatching MONDO:0008814 hyperargininemia skos:exactMatch UMLS:C0268548 semapv:UnspecifiedMatching MONDO:0008814 hyperargininemia skos:exactMatch mesh:D020162 semapv:UnspecifiedMatching MONDO:0008815 argininosuccinic aciduria skos:exactMatch DOID:14755 argininosuccinic aciduria semapv:UnspecifiedMatching MONDO:0008815 argininosuccinic aciduria skos:exactMatch NCIT:C84569 Argininosuccinic Aciduria semapv:UnspecifiedMatching MONDO:0008815 argininosuccinic aciduria skos:exactMatch OMIM:207900 argininosuccinic aciduria semapv:UnspecifiedMatching MONDO:0008815 argininosuccinic aciduria skos:exactMatch Orphanet:23 Argininosuccinic aciduria semapv:UnspecifiedMatching MONDO:0008815 argininosuccinic aciduria skos:exactMatch SCTID:41013004 semapv:UnspecifiedMatching MONDO:0008815 argininosuccinic aciduria skos:exactMatch UMLS:C0268547 semapv:UnspecifiedMatching MONDO:0008815 argininosuccinic aciduria skos:exactMatch mesh:D056807 semapv:UnspecifiedMatching MONDO:0008816 Chiari malformation type II skos:exactMatch OMIM:207950 chiari malformation iia 2 semapv:UnspecifiedMatching MONDO:0008816 Chiari malformation type II skos:exactMatch Orphanet:1136 OBSOLETE: Arnold-Chiari malformation type II semapv:UnspecifiedMatching MONDO:0008816 Chiari malformation type II skos:exactMatch SCTID:373587001 semapv:UnspecifiedMatching MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:exactMatch NCIT:C128805 Generalized Arterial Calcification of Infancy 1 semapv:UnspecifiedMatching MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:exactMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:UnspecifiedMatching MONDO:0008818 arterial tortuosity syndrome skos:exactMatch DOID:0050645 arterial tortuosity syndrome semapv:UnspecifiedMatching MONDO:0008818 arterial tortuosity syndrome skos:exactMatch ICD10CM:Q87.82 Arterial tortuosity syndrome semapv:UnspecifiedMatching MONDO:0008818 arterial tortuosity syndrome skos:exactMatch OMIM:208050 arterial tortuosity syndrome semapv:UnspecifiedMatching MONDO:0008818 arterial tortuosity syndrome skos:exactMatch Orphanet:3342 Arterial tortuosity syndrome semapv:UnspecifiedMatching MONDO:0008818 arterial tortuosity syndrome skos:exactMatch SCTID:458432002 semapv:UnspecifiedMatching MONDO:0008818 arterial tortuosity syndrome skos:exactMatch UMLS:C1859726 semapv:UnspecifiedMatching MONDO:0008818 arterial tortuosity syndrome skos:exactMatch mesh:C565942 semapv:UnspecifiedMatching MONDO:0008819 arteriosclerosis, severe juvenile skos:exactMatch OMIM:208060 arteriosclerosis, severe juvenile semapv:UnspecifiedMatching MONDO:0008819 arteriosclerosis, severe juvenile skos:exactMatch UMLS:C1859725 semapv:UnspecifiedMatching MONDO:0008819 arteriosclerosis, severe juvenile skos:exactMatch mesh:C565941 semapv:UnspecifiedMatching MONDO:0008821 arthrogryposis, distal, with intellectual disability and characteristic facies skos:exactMatch OMIM:208081 arthrogryposis, distal, with impaired intellectual development and characteristic facies semapv:UnspecifiedMatching MONDO:0008821 arthrogryposis, distal, with intellectual disability and characteristic facies skos:exactMatch UMLS:C1859723 semapv:UnspecifiedMatching MONDO:0008821 arthrogryposis, distal, with intellectual disability and characteristic facies skos:exactMatch mesh:C565940 semapv:UnspecifiedMatching MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:exactMatch DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 semapv:UnspecifiedMatching MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:exactMatch OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 semapv:UnspecifiedMatching MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:exactMatch DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 semapv:UnspecifiedMatching MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:exactMatch OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic iia semapv:UnspecifiedMatching MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:exactMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:UnspecifiedMatching MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:exactMatch SCTID:715316005 semapv:UnspecifiedMatching MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:exactMatch UMLS:C5435650 semapv:UnspecifiedMatching MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:exactMatch mesh:C536614 semapv:UnspecifiedMatching MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch DOID:0111375 fetal akinesia deformation sequence syndrome semapv:UnspecifiedMatching MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch NCIT:C129071 Fetal Akinesia Deformation Sequence semapv:UnspecifiedMatching MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch OMIMPS:208150 semapv:UnspecifiedMatching MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch SCTID:401138005 semapv:UnspecifiedMatching MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch mesh:C536647 semapv:UnspecifiedMatching MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:exactMatch OMIM:208155 illum syndrome semapv:UnspecifiedMatching MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:exactMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:UnspecifiedMatching MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:exactMatch SCTID:720514008 semapv:UnspecifiedMatching MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:exactMatch UMLS:C1859711 semapv:UnspecifiedMatching MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:exactMatch mesh:C538401 semapv:UnspecifiedMatching MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:exactMatch OMIM:208158 arthrogryposis with hyperkeratosis semapv:UnspecifiedMatching MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:exactMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:UnspecifiedMatching MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:exactMatch SCTID:726620005 semapv:UnspecifiedMatching MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:exactMatch UMLS:C1859710 semapv:UnspecifiedMatching MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:exactMatch mesh:C535883 semapv:UnspecifiedMatching MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:exactMatch DOID:0090004 progressive pseudorheumatoid arthropathy of childhood semapv:UnspecifiedMatching MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:exactMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:UnspecifiedMatching MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:exactMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:UnspecifiedMatching MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:exactMatch SCTID:254065005 semapv:UnspecifiedMatching MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:exactMatch mesh:C535387 semapv:UnspecifiedMatching MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:exactMatch DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome semapv:UnspecifiedMatching MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:exactMatch OMIM:208250 camptodactyly-arthropathy-coxa vara-pericarditis syndrome semapv:UnspecifiedMatching MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:exactMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:UnspecifiedMatching MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:exactMatch mesh:C537560 semapv:UnspecifiedMatching MONDO:0008829 chylous ascites skos:exactMatch NCIT:C34482 Chylous Peritoneal Effusion semapv:UnspecifiedMatching MONDO:0008829 chylous ascites skos:exactMatch OMIM:208300 ascites, chylous semapv:UnspecifiedMatching MONDO:0008829 chylous ascites skos:exactMatch Orphanet:1160 Chylous ascites semapv:UnspecifiedMatching MONDO:0008829 chylous ascites skos:exactMatch SCTID:52985009 semapv:UnspecifiedMatching MONDO:0008829 chylous ascites skos:exactMatch UMLS:C0008732 semapv:UnspecifiedMatching MONDO:0008829 chylous ascites skos:exactMatch mesh:D002915 semapv:UnspecifiedMatching MONDO:0008830 aspartylglucosaminuria skos:exactMatch DOID:0050461 aspartylglucosaminuria semapv:UnspecifiedMatching MONDO:0008830 aspartylglucosaminuria skos:exactMatch NCIT:C61273 Aspartylglycosaminuria semapv:UnspecifiedMatching MONDO:0008830 aspartylglucosaminuria skos:exactMatch OMIM:208400 aspartylglucosaminuria semapv:UnspecifiedMatching MONDO:0008830 aspartylglucosaminuria skos:exactMatch Orphanet:93 Aspartylglucosaminuria semapv:UnspecifiedMatching MONDO:0008830 aspartylglucosaminuria skos:exactMatch SCTID:54954004 semapv:UnspecifiedMatching MONDO:0008830 aspartylglucosaminuria skos:exactMatch UMLS:C0268225 semapv:UnspecifiedMatching MONDO:0008830 aspartylglucosaminuria skos:exactMatch mesh:D054880 semapv:UnspecifiedMatching MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:exactMatch DOID:0110085 asphyxiating thoracic dystrophy 1 semapv:UnspecifiedMatching MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:exactMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:UnspecifiedMatching MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:exactMatch UMLS:C4551856 semapv:UnspecifiedMatching MONDO:0008832 right atrial isomerism skos:exactMatch DOID:0060856 right atrial isomerism semapv:UnspecifiedMatching MONDO:0008832 right atrial isomerism skos:exactMatch OMIM:208530 right atrial isomerism semapv:UnspecifiedMatching MONDO:0008832 right atrial isomerism skos:exactMatch Orphanet:97548 Right sided atrial isomerism semapv:UnspecifiedMatching MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 skos:exactMatch OMIM:208540 renal-hepatic-pancreatic dysplasia 1 semapv:UnspecifiedMatching MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 skos:exactMatch UMLS:C3715199 semapv:UnspecifiedMatching MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:exactMatch DOID:0111579 asthma, nasal polyps, and aspirin intolerance semapv:UnspecifiedMatching MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:exactMatch OMIM:208550 asthma, nasal polyps, and aspirin intolerance semapv:UnspecifiedMatching MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:exactMatch UMLS:C1859648 semapv:UnspecifiedMatching MONDO:0008835 asthma, short stature, and elevated IgA skos:exactMatch OMIM:208600 asthma, short stature, and elevated iga semapv:UnspecifiedMatching MONDO:0008835 asthma, short stature, and elevated IgA skos:exactMatch UMLS:C1859647 semapv:UnspecifiedMatching MONDO:0008835 asthma, short stature, and elevated IgA skos:exactMatch mesh:C565934 semapv:UnspecifiedMatching MONDO:0008836 ataxia with myoclonic epilepsy and presenile dementia skos:exactMatch OMIM:208700 ataxia with myoclonic epilepsy and presenile dementia semapv:UnspecifiedMatching MONDO:0008836 ataxia with myoclonic epilepsy and presenile dementia skos:exactMatch UMLS:C1859646 semapv:UnspecifiedMatching MONDO:0008836 ataxia with myoclonic epilepsy and presenile dementia skos:exactMatch mesh:C565933 semapv:UnspecifiedMatching MONDO:0008837 ataxia, deafness, and cardiomyopathy skos:exactMatch OMIM:208750 ataxia, deafness, and cardiomyopathy semapv:UnspecifiedMatching MONDO:0008837 ataxia, deafness, and cardiomyopathy skos:exactMatch UMLS:C1859645 semapv:UnspecifiedMatching MONDO:0008837 ataxia, deafness, and cardiomyopathy skos:exactMatch mesh:C565932 semapv:UnspecifiedMatching MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:exactMatch OMIM:208850 ataxia-deafness-retardation syndrome semapv:UnspecifiedMatching MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:exactMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:exactMatch SCTID:720517001 semapv:UnspecifiedMatching MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:exactMatch mesh:C535295 semapv:UnspecifiedMatching MONDO:0008839 ataxia-microcephaly-cataract syndrome skos:exactMatch OMIM:208870 ataxia-microcephaly-cataract syndrome semapv:UnspecifiedMatching MONDO:0008839 ataxia-microcephaly-cataract syndrome skos:exactMatch UMLS:C0796056 semapv:UnspecifiedMatching MONDO:0008839 ataxia-microcephaly-cataract syndrome skos:exactMatch mesh:C563086 semapv:UnspecifiedMatching MONDO:0008840 ataxia telangiectasia skos:exactMatch DOID:12704 ataxia telangiectasia semapv:UnspecifiedMatching MONDO:0008840 ataxia telangiectasia skos:exactMatch NCIT:C2887 Ataxia Telangiectasia Syndrome semapv:UnspecifiedMatching MONDO:0008840 ataxia telangiectasia skos:exactMatch OMIM:208900 ataxia-telangiectasia semapv:UnspecifiedMatching MONDO:0008840 ataxia telangiectasia skos:exactMatch Orphanet:100 Ataxia-telangiectasia semapv:UnspecifiedMatching MONDO:0008840 ataxia telangiectasia skos:exactMatch SCTID:68504005 semapv:UnspecifiedMatching MONDO:0008840 ataxia telangiectasia skos:exactMatch UMLS:C0004135 semapv:UnspecifiedMatching MONDO:0008840 ataxia telangiectasia skos:exactMatch mesh:D001260 semapv:UnspecifiedMatching MONDO:0008841 ataxia-telangiectasia with generalized skin pigmentation and early death skos:exactMatch OMIM:208910 ataxia-telangiectasia with generalized skin pigmentation and early death semapv:UnspecifiedMatching MONDO:0008841 ataxia-telangiectasia with generalized skin pigmentation and early death skos:exactMatch UMLS:C1859615 semapv:UnspecifiedMatching MONDO:0008841 ataxia-telangiectasia with generalized skin pigmentation and early death skos:exactMatch mesh:C565930 semapv:UnspecifiedMatching MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:exactMatch DOID:0050754 ataxia with oculomotor apraxia type 1 semapv:UnspecifiedMatching MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:exactMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:UnspecifiedMatching MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:exactMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:UnspecifiedMatching MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:exactMatch UMLS:C1859598 semapv:UnspecifiedMatching MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:exactMatch mesh:C538013 semapv:UnspecifiedMatching MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:exactMatch OMIM:209010 atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease semapv:UnspecifiedMatching MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:exactMatch Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome semapv:UnspecifiedMatching MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:exactMatch SCTID:720519003 semapv:UnspecifiedMatching MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:exactMatch mesh:C565928 semapv:UnspecifiedMatching MONDO:0008844 Athrombia, essential skos:exactMatch OMIM:209050 athrombia, essential semapv:UnspecifiedMatching MONDO:0008844 Athrombia, essential skos:exactMatch UMLS:C1859595 semapv:UnspecifiedMatching MONDO:0008844 Athrombia, essential skos:exactMatch mesh:C565927 semapv:UnspecifiedMatching MONDO:0008845 atonic-astatic syndrome of Foerster skos:exactMatch OMIM:209100 atonic-astatic syndrome of foerster semapv:UnspecifiedMatching MONDO:0008845 atonic-astatic syndrome of Foerster skos:exactMatch UMLS:C1859594 semapv:UnspecifiedMatching MONDO:0008845 atonic-astatic syndrome of Foerster skos:exactMatch mesh:C565926 semapv:UnspecifiedMatching MONDO:0008846 atransferrinemia skos:exactMatch DOID:0050649 atransferrinemia semapv:UnspecifiedMatching MONDO:0008846 atransferrinemia skos:exactMatch NCIT:C125693 Atransferrinemia semapv:UnspecifiedMatching MONDO:0008846 atransferrinemia skos:exactMatch OMIM:209300 atransferrinemia semapv:UnspecifiedMatching MONDO:0008846 atransferrinemia skos:exactMatch Orphanet:1195 Congenital atransferrinemia semapv:UnspecifiedMatching MONDO:0008846 atransferrinemia skos:exactMatch SCTID:111571009 semapv:UnspecifiedMatching MONDO:0008846 atransferrinemia skos:exactMatch UMLS:C0521802 semapv:UnspecifiedMatching MONDO:0008846 atransferrinemia skos:exactMatch mesh:C538259 semapv:UnspecifiedMatching MONDO:0008847 atrichia with papular lesions skos:exactMatch DOID:0060689 atrichia with papular lesions semapv:UnspecifiedMatching MONDO:0008847 atrichia with papular lesions skos:exactMatch OMIM:209500 atrichia with papular lesions semapv:UnspecifiedMatching MONDO:0008847 atrichia with papular lesions skos:exactMatch Orphanet:86819 Atrichia with papular lesions semapv:UnspecifiedMatching MONDO:0008847 atrichia with papular lesions skos:exactMatch SCTID:715963002 semapv:UnspecifiedMatching MONDO:0008847 atrichia with papular lesions skos:exactMatch UMLS:C1859592 semapv:UnspecifiedMatching MONDO:0008847 atrichia with papular lesions skos:exactMatch mesh:C565924 semapv:UnspecifiedMatching MONDO:0008848 atrioventricular dissociation skos:exactMatch OMIM:209600 atrioventricular dissociation semapv:UnspecifiedMatching MONDO:0008848 atrioventricular dissociation skos:exactMatch SCTID:50799005 semapv:UnspecifiedMatching MONDO:0008848 atrioventricular dissociation skos:exactMatch mesh:D006327 semapv:UnspecifiedMatching MONDO:0008849 atrophoderma vermiculata skos:exactMatch DOID:0080756 atrophoderma vermiculata semapv:UnspecifiedMatching MONDO:0008849 atrophoderma vermiculata skos:exactMatch OMIM:209700 atrophoderma vermiculata semapv:UnspecifiedMatching MONDO:0008849 atrophoderma vermiculata skos:exactMatch Orphanet:79100 Atrophoderma vermiculata semapv:UnspecifiedMatching MONDO:0008849 atrophoderma vermiculata skos:exactMatch SCTID:2736005 semapv:UnspecifiedMatching MONDO:0008850 Cooper-Jabs syndrome skos:exactMatch OMIM:209770 aural atresia, multiple congenital anomalies, and mental retardation semapv:UnspecifiedMatching MONDO:0008850 Cooper-Jabs syndrome skos:exactMatch Orphanet:1488 Cooper-Jabs syndrome semapv:UnspecifiedMatching MONDO:0008850 Cooper-Jabs syndrome skos:exactMatch SCTID:720748007 semapv:UnspecifiedMatching MONDO:0008850 Cooper-Jabs syndrome skos:exactMatch mesh:C565923 semapv:UnspecifiedMatching MONDO:0008853 Barber-Say syndrome skos:exactMatch DOID:0060549 Barber-Say syndrome semapv:UnspecifiedMatching MONDO:0008853 Barber-Say syndrome skos:exactMatch OMIM:209885 barber-say syndrome semapv:UnspecifiedMatching MONDO:0008853 Barber-Say syndrome skos:exactMatch Orphanet:1231 Barber-Say syndrome semapv:UnspecifiedMatching MONDO:0008853 Barber-Say syndrome skos:exactMatch SCTID:408537003 semapv:UnspecifiedMatching MONDO:0008853 Barber-Say syndrome skos:exactMatch UMLS:C1319466 semapv:UnspecifiedMatching MONDO:0008853 Barber-Say syndrome skos:exactMatch mesh:C537908 semapv:UnspecifiedMatching MONDO:0008854 Bardet-Biedl syndrome 1 skos:exactMatch DOID:0110123 Bardet-Biedl syndrome 1 semapv:UnspecifiedMatching MONDO:0008854 Bardet-Biedl syndrome 1 skos:exactMatch OMIM:209900 bardet-biedl syndrome 1 semapv:UnspecifiedMatching MONDO:0008854 Bardet-Biedl syndrome 1 skos:exactMatch UMLS:C2936862 semapv:UnspecifiedMatching MONDO:0008854 Bardet-Biedl syndrome 1 skos:exactMatch mesh:C537909 semapv:UnspecifiedMatching MONDO:0008855 MHC class II deficiency skos:exactMatch DOID:5812 MHC class II deficiency semapv:UnspecifiedMatching MONDO:0008855 MHC class II deficiency skos:exactMatch NCIT:C176823 MHC Class II Deficiency semapv:UnspecifiedMatching MONDO:0008855 MHC class II deficiency skos:exactMatch NCIT:C3895 Bare Lymphocyte Syndrome semapv:UnspecifiedMatching MONDO:0008855 MHC class II deficiency skos:exactMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:UnspecifiedMatching MONDO:0008855 MHC class II deficiency skos:exactMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:UnspecifiedMatching MONDO:0008855 MHC class II deficiency skos:exactMatch SCTID:71904008 semapv:UnspecifiedMatching MONDO:0008855 MHC class II deficiency skos:exactMatch UMLS:C2931418 semapv:UnspecifiedMatching MONDO:0008855 MHC class II deficiency skos:exactMatch mesh:C537079 semapv:UnspecifiedMatching MONDO:0008856 immunodeficiency 27A skos:exactMatch DOID:0111955 immunodeficiency 27A semapv:UnspecifiedMatching MONDO:0008856 immunodeficiency 27A skos:exactMatch NCIT:C176806 Immunodeficiency 27A semapv:UnspecifiedMatching MONDO:0008856 immunodeficiency 27A skos:exactMatch OMIM:209950 immunodeficiency 27a semapv:UnspecifiedMatching MONDO:0008856 immunodeficiency 27A skos:exactMatch UMLS:C4011949 semapv:UnspecifiedMatching MONDO:0008857 Beemer-Ertbruggen syndrome skos:exactMatch OMIM:209970 beemer lethal malformation syndrome semapv:UnspecifiedMatching MONDO:0008857 Beemer-Ertbruggen syndrome skos:exactMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:UnspecifiedMatching MONDO:0008857 Beemer-Ertbruggen syndrome skos:exactMatch SCTID:717859007 semapv:UnspecifiedMatching MONDO:0008857 Beemer-Ertbruggen syndrome skos:exactMatch UMLS:C1859526 semapv:UnspecifiedMatching MONDO:0008857 Beemer-Ertbruggen syndrome skos:exactMatch mesh:C537668 semapv:UnspecifiedMatching MONDO:0008858 Behr syndrome skos:exactMatch DOID:0111580 Behr syndrome semapv:UnspecifiedMatching MONDO:0008858 Behr syndrome skos:exactMatch NCIT:C177251 Behr Syndrome semapv:UnspecifiedMatching MONDO:0008858 Behr syndrome skos:exactMatch OMIM:210000 behr syndrome semapv:UnspecifiedMatching MONDO:0008858 Behr syndrome skos:exactMatch SCTID:718221007 semapv:UnspecifiedMatching MONDO:0008858 Behr syndrome skos:exactMatch UMLS:C0221061 semapv:UnspecifiedMatching MONDO:0008858 Behr syndrome skos:exactMatch mesh:C537669 semapv:UnspecifiedMatching MONDO:0008859 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification skos:exactMatch OMIM:210050 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification semapv:UnspecifiedMatching MONDO:0008859 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification skos:exactMatch UMLS:C1859519 semapv:UnspecifiedMatching MONDO:0008859 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification skos:exactMatch mesh:C565905 semapv:UnspecifiedMatching MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:exactMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:UnspecifiedMatching MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:exactMatch UMLS:C1859518 semapv:UnspecifiedMatching MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:exactMatch mesh:C565904 semapv:UnspecifiedMatching MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:exactMatch DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency semapv:UnspecifiedMatching MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:exactMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:UnspecifiedMatching MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:exactMatch UMLS:C0268600 semapv:UnspecifiedMatching MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:exactMatch mesh:C535308 semapv:UnspecifiedMatching MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:exactMatch DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency semapv:UnspecifiedMatching MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:exactMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:UnspecifiedMatching MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:exactMatch mesh:C535309 semapv:UnspecifiedMatching MONDO:0008863 sitosterolemia skos:exactMatch DOID:0090019 sitosterolemia semapv:UnspecifiedMatching MONDO:0008863 sitosterolemia skos:exactMatch NCIT:C125694 Sitosterolemia semapv:UnspecifiedMatching MONDO:0008863 sitosterolemia skos:exactMatch OMIMPS:210250 semapv:UnspecifiedMatching MONDO:0008863 sitosterolemia skos:exactMatch Orphanet:2882 Sitosterolemia semapv:UnspecifiedMatching MONDO:0008863 sitosterolemia skos:exactMatch SCTID:238104009 semapv:UnspecifiedMatching MONDO:0008863 sitosterolemia skos:exactMatch UMLS:C0342907 semapv:UnspecifiedMatching MONDO:0008863 sitosterolemia skos:exactMatch mesh:C537345 semapv:UnspecifiedMatching MONDO:0008864 Biemond syndrome type 2 skos:exactMatch OMIM:210350 biemond syndrome 2 semapv:UnspecifiedMatching MONDO:0008864 Biemond syndrome type 2 skos:exactMatch Orphanet:141333 Biemond syndrome type 2 semapv:UnspecifiedMatching MONDO:0008864 Biemond syndrome type 2 skos:exactMatch SCTID:717887003 semapv:UnspecifiedMatching MONDO:0008864 Biemond syndrome type 2 skos:exactMatch UMLS:C1859487 semapv:UnspecifiedMatching MONDO:0008864 Biemond syndrome type 2 skos:exactMatch mesh:C565902 semapv:UnspecifiedMatching MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch DOID:0050664 Bietti crystalline corneoretinal dystrophy semapv:UnspecifiedMatching MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch NCIT:C179299 Bietti Crystalline Corneoretinal Dystrophy semapv:UnspecifiedMatching MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch OMIM:210370 bietti crystalline corneoretinal dystrophy semapv:UnspecifiedMatching MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch Orphanet:41751 Bietti crystalline dystrophy semapv:UnspecifiedMatching MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch SCTID:312927001 semapv:UnspecifiedMatching MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch UMLS:C1859486 semapv:UnspecifiedMatching MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch mesh:C535440 semapv:UnspecifiedMatching MONDO:0008866 bifid nose, autosomal recessive skos:exactMatch OMIM:210400 bifid nose, autosomal recessive semapv:UnspecifiedMatching MONDO:0008867 biliary atresia skos:exactMatch DOID:13608 biliary atresia semapv:UnspecifiedMatching MONDO:0008867 biliary atresia skos:exactMatch NCIT:C34421 Biliary Atresia semapv:UnspecifiedMatching MONDO:0008867 biliary atresia skos:exactMatch Orphanet:30391 Isolated biliary atresia semapv:UnspecifiedMatching MONDO:0008867 biliary atresia skos:exactMatch SCTID:77480004 semapv:UnspecifiedMatching MONDO:0008867 biliary atresia skos:exactMatch UMLS:C0005411 semapv:UnspecifiedMatching MONDO:0008867 biliary atresia skos:exactMatch mesh:D001656 semapv:UnspecifiedMatching MONDO:0008868 biliary malformation with renal tubular insufficiency skos:exactMatch OMIM:210550 biliary malformation with renal tubular insufficiency semapv:UnspecifiedMatching MONDO:0008868 biliary malformation with renal tubular insufficiency skos:exactMatch SCTID:235914003 semapv:UnspecifiedMatching MONDO:0008868 biliary malformation with renal tubular insufficiency skos:exactMatch UMLS:C0400972 semapv:UnspecifiedMatching MONDO:0008868 biliary malformation with renal tubular insufficiency skos:exactMatch mesh:C537726 semapv:UnspecifiedMatching MONDO:0008869 Seckel syndrome 1 skos:exactMatch DOID:0070007 Seckel syndrome 1 semapv:UnspecifiedMatching MONDO:0008869 Seckel syndrome 1 skos:exactMatch OMIM:210600 seckel syndrome 1 semapv:UnspecifiedMatching MONDO:0008869 Seckel syndrome 1 skos:exactMatch UMLS:C4551474 semapv:UnspecifiedMatching MONDO:0008870 bird headed-dwarfism, Montreal type skos:exactMatch OMIM:210700 microcephalic primordial dwarfism, montreal iia semapv:UnspecifiedMatching MONDO:0008870 bird headed-dwarfism, Montreal type skos:exactMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:UnspecifiedMatching MONDO:0008870 bird headed-dwarfism, Montreal type skos:exactMatch UMLS:C1859468 semapv:UnspecifiedMatching MONDO:0008870 bird headed-dwarfism, Montreal type skos:exactMatch mesh:C535448 semapv:UnspecifiedMatching MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:exactMatch DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I semapv:UnspecifiedMatching MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:exactMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:UnspecifiedMatching MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:exactMatch SCTID:254102008 semapv:UnspecifiedMatching MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:exactMatch DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II semapv:UnspecifiedMatching MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:exactMatch OMIM:210720 microcephalic osteodysplastic primordial dwarfism, iia 2 semapv:UnspecifiedMatching MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:exactMatch Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II semapv:UnspecifiedMatching MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:exactMatch SCTID:254103003 semapv:UnspecifiedMatching MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:exactMatch mesh:C565898 semapv:UnspecifiedMatching MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:exactMatch OMIM:210730 microcephalic osteodysplastic primordial dwarfism, iia 3 semapv:UnspecifiedMatching MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:exactMatch UMLS:C1859439 semapv:UnspecifiedMatching MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:exactMatch mesh:C537320 semapv:UnspecifiedMatching MONDO:0008874 Bangstad syndrome skos:exactMatch OMIM:210740 bangstad syndrome semapv:UnspecifiedMatching MONDO:0008874 Bangstad syndrome skos:exactMatch Orphanet:1227 Bangstad syndrome semapv:UnspecifiedMatching MONDO:0008874 Bangstad syndrome skos:exactMatch SCTID:237614004 semapv:UnspecifiedMatching MONDO:0008874 Bangstad syndrome skos:exactMatch UMLS:C0342284 semapv:UnspecifiedMatching MONDO:0008874 Bangstad syndrome skos:exactMatch mesh:C537902 semapv:UnspecifiedMatching MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:exactMatch OMIM:210745 blepharophimosis with ptosis, syndactyly, and short stature semapv:UnspecifiedMatching MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:exactMatch Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome semapv:UnspecifiedMatching MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:exactMatch SCTID:717914000 semapv:UnspecifiedMatching MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:exactMatch mesh:C536235 semapv:UnspecifiedMatching MONDO:0008876 Bloom syndrome skos:exactMatch DOID:2717 Bloom syndrome semapv:UnspecifiedMatching MONDO:0008876 Bloom syndrome skos:exactMatch NCIT:C2903 Bloom Syndrome semapv:UnspecifiedMatching MONDO:0008876 Bloom syndrome skos:exactMatch OMIM:210900 bloom syndrome semapv:UnspecifiedMatching MONDO:0008876 Bloom syndrome skos:exactMatch Orphanet:125 Bloom syndrome semapv:UnspecifiedMatching MONDO:0008876 Bloom syndrome skos:exactMatch SCTID:4434006 semapv:UnspecifiedMatching MONDO:0008876 Bloom syndrome skos:exactMatch UMLS:C0005859 semapv:UnspecifiedMatching MONDO:0008876 Bloom syndrome skos:exactMatch mesh:D001816 semapv:UnspecifiedMatching MONDO:0008877 blue diaper syndrome skos:exactMatch OMIM:211000 blue diaper syndrome semapv:UnspecifiedMatching MONDO:0008877 blue diaper syndrome skos:exactMatch Orphanet:94086 Blue diaper syndrome semapv:UnspecifiedMatching MONDO:0008877 blue diaper syndrome skos:exactMatch SCTID:59531002 semapv:UnspecifiedMatching MONDO:0008877 blue diaper syndrome skos:exactMatch UMLS:C0268478 semapv:UnspecifiedMatching MONDO:0008877 blue diaper syndrome skos:exactMatch mesh:C536239 semapv:UnspecifiedMatching MONDO:0008878 bone dysplasia, lethal Holmgren type skos:exactMatch OMIM:211120 bone dysplasia, lethal, holmgren iia semapv:UnspecifiedMatching MONDO:0008878 bone dysplasia, lethal Holmgren type skos:exactMatch Orphanet:1842 Bone dysplasia, lethal Holmgren type semapv:UnspecifiedMatching MONDO:0008878 bone dysplasia, lethal Holmgren type skos:exactMatch SCTID:732249002 semapv:UnspecifiedMatching MONDO:0008878 bone dysplasia, lethal Holmgren type skos:exactMatch UMLS:C1859407 semapv:UnspecifiedMatching MONDO:0008878 bone dysplasia, lethal Holmgren type skos:exactMatch mesh:C565896 semapv:UnspecifiedMatching MONDO:0008879 Bowen-Conradi syndrome skos:exactMatch DOID:0050684 Bowen-Conradi syndrome semapv:UnspecifiedMatching MONDO:0008879 Bowen-Conradi syndrome skos:exactMatch OMIM:211180 bowen-conradi syndrome semapv:UnspecifiedMatching MONDO:0008879 Bowen-Conradi syndrome skos:exactMatch Orphanet:1270 Bowen-Conradi syndrome semapv:UnspecifiedMatching MONDO:0008879 Bowen-Conradi syndrome skos:exactMatch SCTID:711153001 semapv:UnspecifiedMatching MONDO:0008879 Bowen-Conradi syndrome skos:exactMatch UMLS:C1859405 semapv:UnspecifiedMatching MONDO:0008879 Bowen-Conradi syndrome skos:exactMatch mesh:C537081 semapv:UnspecifiedMatching MONDO:0008880 Bowen syndrome of multiple malformations skos:exactMatch OMIM:211200 bowen syndrome of multiple malformations semapv:UnspecifiedMatching MONDO:0008880 Bowen syndrome of multiple malformations skos:exactMatch UMLS:C1859404 semapv:UnspecifiedMatching MONDO:0008880 Bowen syndrome of multiple malformations skos:exactMatch mesh:C538164 semapv:UnspecifiedMatching MONDO:0008881 kyphomelic dysplasia skos:exactMatch OMIM:211350 kyphomelic dysplasia semapv:UnspecifiedMatching MONDO:0008881 kyphomelic dysplasia skos:exactMatch Orphanet:1801 Kyphomelic dysplasia semapv:UnspecifiedMatching MONDO:0008881 kyphomelic dysplasia skos:exactMatch SCTID:254096001 semapv:UnspecifiedMatching MONDO:0008881 kyphomelic dysplasia skos:exactMatch UMLS:C0432239 semapv:UnspecifiedMatching MONDO:0008881 kyphomelic dysplasia skos:exactMatch mesh:C538128 semapv:UnspecifiedMatching MONDO:0008882 congenital bowing of long bones skos:exactMatch OMIM:211355 bowing of long bones, asymmetric and symmetric semapv:UnspecifiedMatching MONDO:0008882 congenital bowing of long bones skos:exactMatch Orphanet:2292 OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome semapv:UnspecifiedMatching MONDO:0008882 congenital bowing of long bones skos:exactMatch SCTID:716098006 semapv:UnspecifiedMatching MONDO:0008883 brachydactyly, type A2, with microcephaly skos:exactMatch OMIM:211369 brachydactyly, iia a2, with microcephaly semapv:UnspecifiedMatching MONDO:0008883 brachydactyly, type A2, with microcephaly skos:exactMatch UMLS:C1859393 semapv:UnspecifiedMatching MONDO:0008883 brachydactyly, type A2, with microcephaly skos:exactMatch mesh:C565894 semapv:UnspecifiedMatching MONDO:0008884 oculoosteocutaneous syndrome skos:exactMatch OMIM:211370 brachymetapody-anodontia-hypotrichosis-albinoidism semapv:UnspecifiedMatching MONDO:0008884 oculoosteocutaneous syndrome skos:exactMatch Orphanet:2713 Oculoosteocutaneous syndrome semapv:UnspecifiedMatching MONDO:0008884 oculoosteocutaneous syndrome skos:exactMatch SCTID:722061006 semapv:UnspecifiedMatching MONDO:0008884 oculoosteocutaneous syndrome skos:exactMatch UMLS:C1859385 semapv:UnspecifiedMatching MONDO:0008884 oculoosteocutaneous syndrome skos:exactMatch mesh:C565893 semapv:UnspecifiedMatching MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch DOID:0080631 Elsahy-Waters syndrome semapv:UnspecifiedMatching MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch OMIM:211380 elsahy-waters syndrome semapv:UnspecifiedMatching MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch Orphanet:1299 Branchioskeletogenital syndrome semapv:UnspecifiedMatching MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch SCTID:719097002 semapv:UnspecifiedMatching MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch UMLS:C0809936 semapv:UnspecifiedMatching MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch mesh:C537084 semapv:UnspecifiedMatching MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch mesh:C566373 semapv:UnspecifiedMatching MONDO:0008886 Sabinas brittle hair syndrome skos:exactMatch DOID:0111874 Sabinas brittle hair syndrome semapv:UnspecifiedMatching MONDO:0008886 Sabinas brittle hair syndrome skos:exactMatch OMIM:211390 sabinas brittle hair syndrome semapv:UnspecifiedMatching MONDO:0008886 Sabinas brittle hair syndrome skos:exactMatch UMLS:C0796271 semapv:UnspecifiedMatching MONDO:0008886 Sabinas brittle hair syndrome skos:exactMatch mesh:C536320 semapv:UnspecifiedMatching MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:exactMatch DOID:0080526 bronchiectasis 1 semapv:UnspecifiedMatching MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:exactMatch OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 semapv:UnspecifiedMatching MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:exactMatch UMLS:C2749757 semapv:UnspecifiedMatching MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:exactMatch mesh:C567618 semapv:UnspecifiedMatching MONDO:0008888 Williams-Campbell syndrome skos:exactMatch OMIM:211450 williams-campbell syndrome semapv:UnspecifiedMatching MONDO:0008888 Williams-Campbell syndrome skos:exactMatch Orphanet:411501 Williams-Campbell syndrome semapv:UnspecifiedMatching MONDO:0008888 Williams-Campbell syndrome skos:exactMatch SCTID:54203008 semapv:UnspecifiedMatching MONDO:0008889 thromboangiitis obliterans skos:exactMatch DOID:12918 thromboangiitis obliterans semapv:UnspecifiedMatching MONDO:0008889 thromboangiitis obliterans skos:exactMatch NCIT:C35070 Buerger Disease semapv:UnspecifiedMatching MONDO:0008889 thromboangiitis obliterans skos:exactMatch OMIM:211480 buerger disease semapv:UnspecifiedMatching MONDO:0008889 thromboangiitis obliterans skos:exactMatch Orphanet:36258 Buerger disease semapv:UnspecifiedMatching MONDO:0008889 thromboangiitis obliterans skos:exactMatch SCTID:52403007 semapv:UnspecifiedMatching MONDO:0008889 thromboangiitis obliterans skos:exactMatch UMLS:C0040021 semapv:UnspecifiedMatching MONDO:0008889 thromboangiitis obliterans skos:exactMatch mesh:D013919 semapv:UnspecifiedMatching MONDO:0008890 progressive bulbar palsy skos:exactMatch DOID:681 progressive bulbar palsy semapv:UnspecifiedMatching MONDO:0008890 progressive bulbar palsy skos:exactMatch ICD10CM:G12.22 Progressive bulbar palsy semapv:UnspecifiedMatching MONDO:0008890 progressive bulbar palsy skos:exactMatch NCIT:C85026 Progressive Bulbar Palsy semapv:UnspecifiedMatching MONDO:0008890 progressive bulbar palsy skos:exactMatch SCTID:54304004 semapv:UnspecifiedMatching MONDO:0008890 progressive bulbar palsy skos:exactMatch UMLS:C0030442 semapv:UnspecifiedMatching MONDO:0008890 progressive bulbar palsy skos:exactMatch mesh:D010244 semapv:UnspecifiedMatching MONDO:0008891 riboflavin transporter deficiency skos:exactMatch DOID:0050694 Brown-Vialetto-Van Laere syndrome semapv:UnspecifiedMatching MONDO:0008891 riboflavin transporter deficiency skos:exactMatch OMIMPS:211530 semapv:UnspecifiedMatching MONDO:0008891 riboflavin transporter deficiency skos:exactMatch Orphanet:97229 Riboflavin transporter deficiency semapv:UnspecifiedMatching MONDO:0008891 riboflavin transporter deficiency skos:exactMatch SCTID:699866005 semapv:UnspecifiedMatching MONDO:0008891 riboflavin transporter deficiency skos:exactMatch mesh:C537111 semapv:UnspecifiedMatching MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:exactMatch DOID:0070226 progressive familial intrahepatic cholestasis 1 semapv:UnspecifiedMatching MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:exactMatch OMIM:211600 cholestasis, progressive familial intrahepatic, 1 semapv:UnspecifiedMatching MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:exactMatch Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 semapv:UnspecifiedMatching MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:exactMatch UMLS:C4551898 semapv:UnspecifiedMatching MONDO:0008893 C syndrome skos:exactMatch DOID:0111581 C syndrome semapv:UnspecifiedMatching MONDO:0008893 C syndrome skos:exactMatch OMIM:211750 c syndrome semapv:UnspecifiedMatching MONDO:0008893 C syndrome skos:exactMatch Orphanet:1308 C syndrome semapv:UnspecifiedMatching MONDO:0008893 C syndrome skos:exactMatch SCTID:715409005 semapv:UnspecifiedMatching MONDO:0008893 C syndrome skos:exactMatch UMLS:C0796095 semapv:UnspecifiedMatching MONDO:0008893 C syndrome skos:exactMatch mesh:C537418 semapv:UnspecifiedMatching MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:exactMatch OMIM:211770 cahmr syndrome semapv:UnspecifiedMatching MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:exactMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:exactMatch SCTID:722379001 semapv:UnspecifiedMatching MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:exactMatch UMLS:C0796282 semapv:UnspecifiedMatching MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:exactMatch mesh:C537959 semapv:UnspecifiedMatching MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:exactMatch DOID:0111582 hereditary arterial and articular multiple calcification syndrome semapv:UnspecifiedMatching MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:exactMatch OMIM:211800 calcification of joints and arteries semapv:UnspecifiedMatching MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:exactMatch Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome semapv:UnspecifiedMatching MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:exactMatch SCTID:718602007 semapv:UnspecifiedMatching MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:exactMatch UMLS:C1859372 semapv:UnspecifiedMatching MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:exactMatch mesh:C565891 semapv:UnspecifiedMatching MONDO:0008896 campomelia, Cumming type skos:exactMatch OMIM:211890 campomelia, cumming iia semapv:UnspecifiedMatching MONDO:0008896 campomelia, Cumming type skos:exactMatch Orphanet:1318 Campomelia, Cumming type semapv:UnspecifiedMatching MONDO:0008896 campomelia, Cumming type skos:exactMatch SCTID:720599002 semapv:UnspecifiedMatching MONDO:0008896 campomelia, Cumming type skos:exactMatch UMLS:C1859371 semapv:UnspecifiedMatching MONDO:0008896 campomelia, Cumming type skos:exactMatch mesh:C537966 semapv:UnspecifiedMatching MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:exactMatch OMIM:211910 camptodactyly syndrome, guadalajara, iia 1 semapv:UnspecifiedMatching MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:exactMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:UnspecifiedMatching MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:exactMatch SCTID:720602007 semapv:UnspecifiedMatching MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:exactMatch UMLS:C1859359 semapv:UnspecifiedMatching MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:exactMatch mesh:C537970 semapv:UnspecifiedMatching MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:exactMatch OMIM:211920 camptodactyly syndrome, guadalajara, iia 2 semapv:UnspecifiedMatching MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:exactMatch Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 semapv:UnspecifiedMatching MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:exactMatch SCTID:720603002 semapv:UnspecifiedMatching MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:exactMatch mesh:C567138 semapv:UnspecifiedMatching MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:exactMatch OMIM:211930 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia semapv:UnspecifiedMatching MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:exactMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:UnspecifiedMatching MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:exactMatch mesh:C537974 semapv:UnspecifiedMatching MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:exactMatch OMIM:211960 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases semapv:UnspecifiedMatching MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:exactMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:UnspecifiedMatching MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:exactMatch SCTID:719946008 semapv:UnspecifiedMatching MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:exactMatch UMLS:C1859356 semapv:UnspecifiedMatching MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:exactMatch mesh:C536953 semapv:UnspecifiedMatching MONDO:0008902 camptodactyly-ichthyosis syndrome skos:exactMatch OMIM:211965 camptodactyly-ichthyosis syndrome semapv:UnspecifiedMatching MONDO:0008902 camptodactyly-ichthyosis syndrome skos:exactMatch UMLS:C1859355 semapv:UnspecifiedMatching MONDO:0008902 camptodactyly-ichthyosis syndrome skos:exactMatch mesh:C537976 semapv:UnspecifiedMatching MONDO:0008903 lung cancer skos:exactMatch DOID:1324 lung cancer semapv:UnspecifiedMatching MONDO:0008903 lung cancer skos:exactMatch NCIT:C7377 Malignant Lung Neoplasm semapv:UnspecifiedMatching MONDO:0008903 lung cancer skos:exactMatch OMIM:211980 lung cancer semapv:UnspecifiedMatching MONDO:0008903 lung cancer skos:exactMatch SCTID:363358000 semapv:UnspecifiedMatching MONDO:0008904 camptomelic syndrome, long-limb type skos:exactMatch OMIM:211990 camptomelic syndrome, long-limb iia semapv:UnspecifiedMatching MONDO:0008904 camptomelic syndrome, long-limb type skos:exactMatch UMLS:C1859354 semapv:UnspecifiedMatching MONDO:0008904 camptomelic syndrome, long-limb type skos:exactMatch mesh:C537977 semapv:UnspecifiedMatching MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:exactMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:UnspecifiedMatching MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:exactMatch Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency semapv:UnspecifiedMatching MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:exactMatch UMLS:C1859353 semapv:UnspecifiedMatching MONDO:0008906 obsolete carbimazole sensitivity skos:exactMatch OMIM:212060 carbimazole sensitivity semapv:UnspecifiedMatching MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch DOID:0080552 congenital disorder of glycosylation Ia semapv:UnspecifiedMatching MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch NCIT:C126868 Congenital Disorder of Glycosylation Type Ia semapv:UnspecifiedMatching MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch OMIM:212065 congenital disorder of glycosylation, iia ia semapv:UnspecifiedMatching MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch Orphanet:79318 PMM2-CDG semapv:UnspecifiedMatching MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch SCTID:459063003 semapv:UnspecifiedMatching MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch UMLS:C0349653 semapv:UnspecifiedMatching MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch mesh:C535739 semapv:UnspecifiedMatching MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch DOID:0070253 congenital disorder of glycosylation type IIa semapv:UnspecifiedMatching MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch OMIM:212066 congenital disorder of glycosylation, iia iia semapv:UnspecifiedMatching MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch Orphanet:79329 MGAT2-CDG semapv:UnspecifiedMatching MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch SCTID:724142005 semapv:UnspecifiedMatching MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch UMLS:C2931008 semapv:UnspecifiedMatching MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch mesh:C535752 semapv:UnspecifiedMatching MONDO:0008909 congenital disorder of glycosylation, type i/IIx skos:exactMatch OMIM:212067 congenital disorder of glycosylation, iia i/iix semapv:UnspecifiedMatching MONDO:0008909 congenital disorder of glycosylation, type i/IIx skos:exactMatch UMLS:C0349655 semapv:UnspecifiedMatching MONDO:0008909 congenital disorder of glycosylation, type i/IIx skos:exactMatch mesh:C562844 semapv:UnspecifiedMatching MONDO:0008910 carboxypeptidase N deficiency skos:exactMatch DOID:0111583 carboxypeptidase N deficiency semapv:UnspecifiedMatching MONDO:0008910 carboxypeptidase N deficiency skos:exactMatch NCIT:C132196 Carboxypeptidase N Deficiency semapv:UnspecifiedMatching MONDO:0008910 carboxypeptidase N deficiency skos:exactMatch OMIM:212070 carboxypeptidase n deficiency semapv:UnspecifiedMatching MONDO:0008910 carboxypeptidase N deficiency skos:exactMatch SCTID:234627009 semapv:UnspecifiedMatching MONDO:0008910 carboxypeptidase N deficiency skos:exactMatch UMLS:C0398782 semapv:UnspecifiedMatching MONDO:0008910 carboxypeptidase N deficiency skos:exactMatch mesh:C562876 semapv:UnspecifiedMatching MONDO:0008911 cardiac lipidosis, familial skos:exactMatch OMIM:212080 cardiac lipidosis, familial semapv:UnspecifiedMatching MONDO:0008911 cardiac lipidosis, familial skos:exactMatch UMLS:C1859332 semapv:UnspecifiedMatching MONDO:0008911 cardiac lipidosis, familial skos:exactMatch mesh:C565884 semapv:UnspecifiedMatching MONDO:0008912 cardiac septal defects with coarctation of the aorta skos:exactMatch OMIM:212090 cardiac septal defects with coarctation of the aorta semapv:UnspecifiedMatching MONDO:0008912 cardiac septal defects with coarctation of the aorta skos:exactMatch UMLS:C1859331 semapv:UnspecifiedMatching MONDO:0008912 cardiac septal defects with coarctation of the aorta skos:exactMatch mesh:C565883 semapv:UnspecifiedMatching MONDO:0008913 cardiac valvular defect, developmental skos:exactMatch DOID:0080633 developmental cardiac valvular defect semapv:UnspecifiedMatching MONDO:0008913 cardiac valvular defect, developmental skos:exactMatch OMIM:212093 cardiac valvular dysplasia 1 semapv:UnspecifiedMatching MONDO:0008913 cardiac valvular defect, developmental skos:exactMatch UMLS:C5774175 semapv:UnspecifiedMatching MONDO:0008913 cardiac valvular defect, developmental skos:exactMatch mesh:C565882 semapv:UnspecifiedMatching MONDO:0008914 cardioauditory syndrome of Sanchez Cascos skos:exactMatch OMIM:212100 cardioauditory syndrome of sanchez cascos semapv:UnspecifiedMatching MONDO:0008914 cardioauditory syndrome of Sanchez Cascos skos:exactMatch UMLS:C1859329 semapv:UnspecifiedMatching MONDO:0008914 cardioauditory syndrome of Sanchez Cascos skos:exactMatch mesh:C535577 semapv:UnspecifiedMatching MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch NCIT:C174217 Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome semapv:UnspecifiedMatching MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch SCTID:719451006 semapv:UnspecifiedMatching MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch UMLS:C0796031 semapv:UnspecifiedMatching MONDO:0008916 cardiomyopathy associated with myopathy and sudden death skos:exactMatch OMIM:212130 cardiomyopathy associated with myopathy and sudden death semapv:UnspecifiedMatching MONDO:0008916 cardiomyopathy associated with myopathy and sudden death skos:exactMatch UMLS:C1859328 semapv:UnspecifiedMatching MONDO:0008916 cardiomyopathy associated with myopathy and sudden death skos:exactMatch mesh:C565881 semapv:UnspecifiedMatching MONDO:0008917 heart defects-limb shortening syndrome skos:exactMatch OMIM:212135 cardioskeletal syndrome, kuwaiti iia semapv:UnspecifiedMatching MONDO:0008917 heart defects-limb shortening syndrome skos:exactMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:UnspecifiedMatching MONDO:0008917 heart defects-limb shortening syndrome skos:exactMatch SCTID:721009008 semapv:UnspecifiedMatching MONDO:0008917 heart defects-limb shortening syndrome skos:exactMatch UMLS:C1859327 semapv:UnspecifiedMatching MONDO:0008917 heart defects-limb shortening syndrome skos:exactMatch mesh:C535850 semapv:UnspecifiedMatching MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch DOID:0111585 carnitine-acylcarnitine translocase deficiency semapv:UnspecifiedMatching MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch NCIT:C133086 Carnitine-Acylcarnitine Translocase Deficiency semapv:UnspecifiedMatching MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch OMIM:212138 carnitine-acylcarnitine translocase deficiency semapv:UnspecifiedMatching MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:UnspecifiedMatching MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch SCTID:238003000 semapv:UnspecifiedMatching MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch UMLS:C0342791 semapv:UnspecifiedMatching MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch mesh:C562812 semapv:UnspecifiedMatching MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch DOID:14365 systemic primary carnitine deficiency disease semapv:UnspecifiedMatching MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch NCIT:C98864 Primary Carnitine Deficiency semapv:UnspecifiedMatching MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch OMIM:212140 carnitine deficiency, systemic primary semapv:UnspecifiedMatching MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch Orphanet:158 Systemic primary carnitine deficiency semapv:UnspecifiedMatching MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch SCTID:21764004 semapv:UnspecifiedMatching MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch UMLS:C0342788 semapv:UnspecifiedMatching MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch mesh:C536778 semapv:UnspecifiedMatching MONDO:0008920 carnitine deficiency, myopathic skos:exactMatch OMIM:212160 carnitine deficiency, myopathic semapv:UnspecifiedMatching MONDO:0008920 carnitine deficiency, myopathic skos:exactMatch UMLS:C1859318 semapv:UnspecifiedMatching MONDO:0008920 carnitine deficiency, myopathic skos:exactMatch mesh:C536100 semapv:UnspecifiedMatching MONDO:0008921 carnosinemia skos:exactMatch NCIT:C125661 Carnosinemia semapv:UnspecifiedMatching MONDO:0008921 carnosinemia skos:exactMatch OMIM:212200 carnosinemia semapv:UnspecifiedMatching MONDO:0008921 carnosinemia skos:exactMatch Orphanet:1361 Carnosinase deficiency semapv:UnspecifiedMatching MONDO:0008921 carnosinemia skos:exactMatch SCTID:410052008 semapv:UnspecifiedMatching MONDO:0008921 carnosinemia skos:exactMatch UMLS:C3495555 semapv:UnspecifiedMatching MONDO:0008922 Sengers syndrome skos:exactMatch DOID:0080132 Sengers syndrome semapv:UnspecifiedMatching MONDO:0008922 Sengers syndrome skos:exactMatch OMIM:212350 sengers syndrome semapv:UnspecifiedMatching MONDO:0008922 Sengers syndrome skos:exactMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:UnspecifiedMatching MONDO:0008922 Sengers syndrome skos:exactMatch SCTID:717812000 semapv:UnspecifiedMatching MONDO:0008922 Sengers syndrome skos:exactMatch UMLS:C1859317 semapv:UnspecifiedMatching MONDO:0008922 Sengers syndrome skos:exactMatch mesh:C538280 semapv:UnspecifiedMatching MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 semapv:UnspecifiedMatching MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 semapv:UnspecifiedMatching MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:UnspecifiedMatching MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch UMLS:C1859316 semapv:UnspecifiedMatching MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch mesh:C535336 semapv:UnspecifiedMatching MONDO:0008924 congenital cataract-ichthyosis syndrome skos:exactMatch OMIM:212400 cataract and congenital ichthyosis semapv:UnspecifiedMatching MONDO:0008924 congenital cataract-ichthyosis syndrome skos:exactMatch UMLS:C1859315 semapv:UnspecifiedMatching MONDO:0008924 congenital cataract-ichthyosis syndrome skos:exactMatch mesh:C538281 semapv:UnspecifiedMatching MONDO:0008925 cataract 46 juvenile-onset skos:exactMatch DOID:0110243 cataract 46 juvenile-onset semapv:UnspecifiedMatching MONDO:0008925 cataract 46 juvenile-onset skos:exactMatch OMIM:212500 cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy semapv:UnspecifiedMatching MONDO:0008925 cataract 46 juvenile-onset skos:exactMatch mesh:C538286 semapv:UnspecifiedMatching MONDO:0008926 COFS syndrome skos:exactMatch DOID:0080910 cerebrooculofacioskeletal syndrome semapv:UnspecifiedMatching MONDO:0008926 COFS syndrome skos:exactMatch NCIT:C3817 Cerebrooculofacioskeletal Syndrome semapv:UnspecifiedMatching MONDO:0008926 COFS syndrome skos:exactMatch OMIMPS:214150 semapv:UnspecifiedMatching MONDO:0008926 COFS syndrome skos:exactMatch Orphanet:1466 COFS syndrome semapv:UnspecifiedMatching MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy semapv:UnspecifiedMatching MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch OMIM:212550 optic disc anomalies with retinal and/or macular dystrophy semapv:UnspecifiedMatching MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:UnspecifiedMatching MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch UMLS:C4225424 semapv:UnspecifiedMatching MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch mesh:C565876 semapv:UnspecifiedMatching MONDO:0008928 cataract-ataxia-deafness syndrome skos:exactMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:UnspecifiedMatching MONDO:0008928 cataract-ataxia-deafness syndrome skos:exactMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:UnspecifiedMatching MONDO:0008928 cataract-ataxia-deafness syndrome skos:exactMatch UMLS:C0796123 semapv:UnspecifiedMatching MONDO:0008928 cataract-ataxia-deafness syndrome skos:exactMatch mesh:C538283 semapv:UnspecifiedMatching MONDO:0008930 celiac disease, susceptibility to, 1 skos:exactMatch OMIM:212750 celiac disease, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:exactMatch DOID:0090015 Cenani-Lenz syndactyly syndrome semapv:UnspecifiedMatching MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:exactMatch OMIM:212780 cenani-lenz syndactyly syndrome semapv:UnspecifiedMatching MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:exactMatch Orphanet:3258 Cenani-Lenz syndrome semapv:UnspecifiedMatching MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:exactMatch SCTID:720633009 semapv:UnspecifiedMatching MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:exactMatch UMLS:C1859309 semapv:UnspecifiedMatching MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:exactMatch mesh:C538150 semapv:UnspecifiedMatching MONDO:0008932 premature centromere division skos:exactMatch OMIM:212790 premature centromere division semapv:UnspecifiedMatching MONDO:0008932 premature centromere division skos:exactMatch UMLS:C1859308 semapv:UnspecifiedMatching MONDO:0008933 cephalin lipidosis skos:exactMatch OMIM:212800 cephalin lipidosis semapv:UnspecifiedMatching MONDO:0008933 cephalin lipidosis skos:exactMatch UMLS:C1859307 semapv:UnspecifiedMatching MONDO:0008933 cephalin lipidosis skos:exactMatch mesh:C565872 semapv:UnspecifiedMatching MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:exactMatch OMIM:212835 cerebellar ataxia and ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:exactMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:exactMatch SCTID:715371006 semapv:UnspecifiedMatching MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:exactMatch UMLS:C1859306 semapv:UnspecifiedMatching MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:exactMatch mesh:C535350 semapv:UnspecifiedMatching MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:exactMatch DOID:0111587 Gordon Holmes syndrome semapv:UnspecifiedMatching MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:exactMatch OMIM:212840 gordon holmes syndrome semapv:UnspecifiedMatching MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:exactMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:exactMatch UMLS:C1859305 semapv:UnspecifiedMatching MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:exactMatch mesh:C565870 semapv:UnspecifiedMatching MONDO:0008936 cerebellar ataxia and neurosensory deafness skos:exactMatch OMIM:212850 cerebellar ataxia and neurosensory deafness semapv:UnspecifiedMatching MONDO:0008936 cerebellar ataxia and neurosensory deafness skos:exactMatch UMLS:C1859304 semapv:UnspecifiedMatching MONDO:0008936 cerebellar ataxia and neurosensory deafness skos:exactMatch mesh:C565869 semapv:UnspecifiedMatching MONDO:0008937 cerebellar ataxia, benign, with thermoanalgesia skos:exactMatch OMIM:212890 cerebellar ataxia, benign, with thermoanalgesia semapv:UnspecifiedMatching MONDO:0008937 cerebellar ataxia, benign, with thermoanalgesia skos:exactMatch UMLS:C1859303 semapv:UnspecifiedMatching MONDO:0008937 cerebellar ataxia, benign, with thermoanalgesia skos:exactMatch mesh:C565868 semapv:UnspecifiedMatching MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch OMIM:212895 cerebellar ataxia, early-onset, with retained tendon reflexes semapv:UnspecifiedMatching MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:UnspecifiedMatching MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch SCTID:230228004 semapv:UnspecifiedMatching MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch UMLS:C0393520 semapv:UnspecifiedMatching MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch mesh:C535633 semapv:UnspecifiedMatching MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch DOID:0070338 cerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch NCIT:C98890 Congenital Cerebellar Hypoplasia semapv:UnspecifiedMatching MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch OMIM:213000 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay semapv:UnspecifiedMatching MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch Orphanet:1398 Isolated cerebellar agenesis semapv:UnspecifiedMatching MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch SCTID:16026008 semapv:UnspecifiedMatching MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch mesh:C562568 semapv:UnspecifiedMatching MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:exactMatch OMIM:213010 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome semapv:UnspecifiedMatching MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:exactMatch Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:exactMatch mesh:C565867 semapv:UnspecifiedMatching MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:exactMatch DOID:0080061 autosomal recessive spinocerebellar ataxia 2 semapv:UnspecifiedMatching MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:exactMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:exactMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:UnspecifiedMatching MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:exactMatch SCTID:715369006 semapv:UnspecifiedMatching MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:exactMatch UMLS:C1859298 semapv:UnspecifiedMatching MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:exactMatch mesh:C565865 semapv:UnspecifiedMatching MONDO:0008944 Joubert syndrome 1 skos:exactMatch DOID:0110980 Joubert syndrome 1 semapv:UnspecifiedMatching MONDO:0008944 Joubert syndrome 1 skos:exactMatch OMIM:213300 joubert syndrome 1 semapv:UnspecifiedMatching MONDO:0008944 Joubert syndrome 1 skos:exactMatch UMLS:C4551568 semapv:UnspecifiedMatching MONDO:0008945 myoclonic cerebellar dyssynergia skos:exactMatch DOID:12707 myoclonic cerebellar dyssynergia semapv:UnspecifiedMatching MONDO:0008945 myoclonic cerebellar dyssynergia skos:exactMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:UnspecifiedMatching MONDO:0008945 myoclonic cerebellar dyssynergia skos:exactMatch SCTID:73495003 semapv:UnspecifiedMatching MONDO:0008945 myoclonic cerebellar dyssynergia skos:exactMatch UMLS:C3489626 semapv:UnspecifiedMatching MONDO:0008945 myoclonic cerebellar dyssynergia skos:exactMatch mesh:D002527 semapv:UnspecifiedMatching MONDO:0008946 cerebral angiopathy, dysphoric skos:exactMatch OMIM:213500 cerebral angiopathy, dysphoric semapv:UnspecifiedMatching MONDO:0008946 cerebral angiopathy, dysphoric skos:exactMatch UMLS:C1859283 semapv:UnspecifiedMatching MONDO:0008946 cerebral angiopathy, dysphoric skos:exactMatch mesh:C565864 semapv:UnspecifiedMatching MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch DOID:0060230 basal ganglia calcification semapv:UnspecifiedMatching MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch OMIMPS:213600 semapv:UnspecifiedMatching MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:UnspecifiedMatching MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch SCTID:110997000 semapv:UnspecifiedMatching MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch SCTID:230311004 semapv:UnspecifiedMatching MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch mesh:C536275 semapv:UnspecifiedMatching MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch DOID:4810 cerebrotendinous xanthomatosis semapv:UnspecifiedMatching MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch NCIT:C84628 Cerebrotendinous Xanthomatosis semapv:UnspecifiedMatching MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch OMIM:213700 cerebrotendinous xanthomatosis semapv:UnspecifiedMatching MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:UnspecifiedMatching MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch SCTID:63246000 semapv:UnspecifiedMatching MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch UMLS:C0238052 semapv:UnspecifiedMatching MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch mesh:D019294 semapv:UnspecifiedMatching MONDO:0008949 cerebral malformation, seizures, hypertrichosis, and overlapping fingers skos:exactMatch OMIM:213820 cerebral malformation, seizures, hypertrichosis, and overlapping fingers semapv:UnspecifiedMatching MONDO:0008949 cerebral malformation, seizures, hypertrichosis, and overlapping fingers skos:exactMatch UMLS:C1859259 semapv:UnspecifiedMatching MONDO:0008949 cerebral malformation, seizures, hypertrichosis, and overlapping fingers skos:exactMatch mesh:C537370 semapv:UnspecifiedMatching MONDO:0008950 cerebral sclerosis similar to Pelizaeus-Merzbacher disease skos:exactMatch OMIM:213900 cerebral sclerosis similar to pelizaeus-merzbacher disease semapv:UnspecifiedMatching MONDO:0008950 cerebral sclerosis similar to Pelizaeus-Merzbacher disease skos:exactMatch mesh:C536318 semapv:UnspecifiedMatching MONDO:0008951 cerebrocortical degeneration of infancy skos:exactMatch OMIM:213950 cerebrocortical degeneration of infancy semapv:UnspecifiedMatching MONDO:0008951 cerebrocortical degeneration of infancy skos:exactMatch UMLS:C1859257 semapv:UnspecifiedMatching MONDO:0008951 cerebrocortical degeneration of infancy skos:exactMatch mesh:C565863 semapv:UnspecifiedMatching MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:exactMatch DOID:0080476 peroxisome biogenesis disorder 1A semapv:UnspecifiedMatching MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:exactMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:UnspecifiedMatching MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:exactMatch DOID:0080477 peroxisome biogenesis disorder 2A semapv:UnspecifiedMatching MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:exactMatch OMIM:214110 peroxisome biogenesis disorder 2a (zellweger) semapv:UnspecifiedMatching MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:exactMatch UMLS:C3550273 semapv:UnspecifiedMatching MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch DOID:0080911 cerebrooculofacioskeletal syndrome 1 semapv:UnspecifiedMatching MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch NCIT:C173085 Cerebrooculofacioskeletal Syndrome 1 semapv:UnspecifiedMatching MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch OMIM:214150 cerebrooculofacioskeletal syndrome 1 semapv:UnspecifiedMatching MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch UMLS:C0220722 semapv:UnspecifiedMatching MONDO:0008957 cervical vertebrae, agenesis of skos:exactMatch OMIM:214290 cervical vertebrae, agenesis of semapv:UnspecifiedMatching MONDO:0008957 cervical vertebrae, agenesis of skos:exactMatch mesh:C562952 semapv:UnspecifiedMatching MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:exactMatch DOID:0080590 Klippel-Feil syndrome 2 semapv:UnspecifiedMatching MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:exactMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:UnspecifiedMatching MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:exactMatch UMLS:C1859209 semapv:UnspecifiedMatching MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:exactMatch mesh:C536888 semapv:UnspecifiedMatching MONDO:0008959 CHAND syndrome skos:exactMatch OMIM:214350 chand syndrome semapv:UnspecifiedMatching MONDO:0008959 CHAND syndrome skos:exactMatch Orphanet:1401 CHAND syndrome semapv:UnspecifiedMatching MONDO:0008959 CHAND syndrome skos:exactMatch SCTID:239037001 semapv:UnspecifiedMatching MONDO:0008959 CHAND syndrome skos:exactMatch UMLS:C0406733 semapv:UnspecifiedMatching MONDO:0008959 CHAND syndrome skos:exactMatch mesh:C538074 semapv:UnspecifiedMatching MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:exactMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers semapv:UnspecifiedMatching MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:exactMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:exactMatch SCTID:715666007 semapv:UnspecifiedMatching MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:exactMatch DOID:0110185 Charcot-Marie-Tooth disease type 4A semapv:UnspecifiedMatching MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:exactMatch OMIM:214400 charcot-marie-tooth disease, iia 4a semapv:UnspecifiedMatching MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:exactMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:UnspecifiedMatching MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:exactMatch SCTID:715796006 semapv:UnspecifiedMatching MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:exactMatch UMLS:C1859198 semapv:UnspecifiedMatching MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:exactMatch mesh:C535419 semapv:UnspecifiedMatching MONDO:0008962 Griscelli syndrome type 1 skos:exactMatch DOID:0060832 Griscelli syndrome type 1 semapv:UnspecifiedMatching MONDO:0008962 Griscelli syndrome type 1 skos:exactMatch OMIM:214450 griscelli syndrome, iia 1 semapv:UnspecifiedMatching MONDO:0008962 Griscelli syndrome type 1 skos:exactMatch Orphanet:79476 Griscelli syndrome type 1 semapv:UnspecifiedMatching MONDO:0008962 Griscelli syndrome type 1 skos:exactMatch UMLS:C1859194 semapv:UnspecifiedMatching MONDO:0008962 Griscelli syndrome type 1 skos:exactMatch mesh:C537301 semapv:UnspecifiedMatching MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch DOID:2935 Chediak-Higashi syndrome semapv:UnspecifiedMatching MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch ICD10CM:E70.330 Chediak-Higashi syndrome semapv:UnspecifiedMatching MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch NCIT:C2941 Chediak-Higashi Syndrome semapv:UnspecifiedMatching MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch OMIM:214500 chediak-higashi syndrome semapv:UnspecifiedMatching MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch Orphanet:167 Chédiak-Higashi syndrome semapv:UnspecifiedMatching MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch SCTID:111396008 semapv:UnspecifiedMatching MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch UMLS:C0007965 semapv:UnspecifiedMatching MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch mesh:D002609 semapv:UnspecifiedMatching MONDO:0008964 congenital secretory chloride diarrhea 1 skos:exactMatch DOID:0060296 congenital secretory chloride diarrhea 1 semapv:UnspecifiedMatching MONDO:0008964 congenital secretory chloride diarrhea 1 skos:exactMatch OMIM:214700 diarrhea 1, secretory chloride, congenital semapv:UnspecifiedMatching MONDO:0008964 congenital secretory chloride diarrhea 1 skos:exactMatch Orphanet:53689 Congenital chloride diarrhea semapv:UnspecifiedMatching MONDO:0008964 congenital secretory chloride diarrhea 1 skos:exactMatch SCTID:24412005 semapv:UnspecifiedMatching MONDO:0008964 congenital secretory chloride diarrhea 1 skos:exactMatch mesh:C536210 semapv:UnspecifiedMatching MONDO:0008965 CHARGE syndrome skos:exactMatch DOID:0050834 CHARGE syndrome semapv:UnspecifiedMatching MONDO:0008965 CHARGE syndrome skos:exactMatch NCIT:C75100 CHARGE Syndrome semapv:UnspecifiedMatching MONDO:0008965 CHARGE syndrome skos:exactMatch OMIM:214800 charge syndrome semapv:UnspecifiedMatching MONDO:0008965 CHARGE syndrome skos:exactMatch Orphanet:138 CHARGE syndrome semapv:UnspecifiedMatching MONDO:0008965 CHARGE syndrome skos:exactMatch SCTID:47535005 semapv:UnspecifiedMatching MONDO:0008965 CHARGE syndrome skos:exactMatch UMLS:C0265354 semapv:UnspecifiedMatching MONDO:0008965 CHARGE syndrome skos:exactMatch mesh:D058747 semapv:UnspecifiedMatching MONDO:0008966 Aagenaes syndrome skos:exactMatch DOID:6691 Aagenaes syndrome semapv:UnspecifiedMatching MONDO:0008966 Aagenaes syndrome skos:exactMatch NCIT:C35709 Aagenaes Syndrome semapv:UnspecifiedMatching MONDO:0008966 Aagenaes syndrome skos:exactMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:UnspecifiedMatching MONDO:0008966 Aagenaes syndrome skos:exactMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:UnspecifiedMatching MONDO:0008966 Aagenaes syndrome skos:exactMatch SCTID:28724005 semapv:UnspecifiedMatching MONDO:0008966 Aagenaes syndrome skos:exactMatch UMLS:C0268314 semapv:UnspecifiedMatching MONDO:0008966 Aagenaes syndrome skos:exactMatch mesh:C535330 semapv:UnspecifiedMatching MONDO:0008967 congenital bile acid synthesis defect 4 skos:exactMatch DOID:0111068 congenital bile acid synthesis defect 4 semapv:UnspecifiedMatching MONDO:0008967 congenital bile acid synthesis defect 4 skos:exactMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:UnspecifiedMatching MONDO:0008967 congenital bile acid synthesis defect 4 skos:exactMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:UnspecifiedMatching MONDO:0008967 congenital bile acid synthesis defect 4 skos:exactMatch mesh:C535444 semapv:UnspecifiedMatching MONDO:0008968 cholestasis with gallstone, ataxia, and visual disturbance skos:exactMatch OMIM:214980 cholestasis with gallstone, ataxia, and visual disturbance semapv:UnspecifiedMatching MONDO:0008968 cholestasis with gallstone, ataxia, and visual disturbance skos:exactMatch UMLS:C1859161 semapv:UnspecifiedMatching MONDO:0008968 cholestasis with gallstone, ataxia, and visual disturbance skos:exactMatch mesh:C565856 semapv:UnspecifiedMatching MONDO:0008969 cholesterol pneumonia skos:exactMatch OMIM:215030 cholesterol pneumonia semapv:UnspecifiedMatching MONDO:0008969 cholesterol pneumonia skos:exactMatch SCTID:233728004 semapv:UnspecifiedMatching MONDO:0008969 cholesterol pneumonia skos:exactMatch UMLS:C0549472 semapv:UnspecifiedMatching MONDO:0008969 cholesterol pneumonia skos:exactMatch mesh:C535937 semapv:UnspecifiedMatching MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch DOID:0060387 chondrodysplasia Blomstrand type semapv:UnspecifiedMatching MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch NCIT:C131420 Blomstrand Type Chondrodysplasia semapv:UnspecifiedMatching MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch OMIM:215045 chondrodysplasia, blomstrand iia semapv:UnspecifiedMatching MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:UnspecifiedMatching MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch UMLS:C1859148 semapv:UnspecifiedMatching MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch mesh:C537914 semapv:UnspecifiedMatching MONDO:0008971 chondrodysplasia calcificans Metaphysealis skos:exactMatch OMIM:215050 chondrodysplasia calcificans metaphysealis semapv:UnspecifiedMatching MONDO:0008971 chondrodysplasia calcificans Metaphysealis skos:exactMatch UMLS:C1859147 semapv:UnspecifiedMatching MONDO:0008971 chondrodysplasia calcificans Metaphysealis skos:exactMatch mesh:C565855 semapv:UnspecifiedMatching MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:exactMatch DOID:0110851 rhizomelic chondrodysplasia punctata type 1 semapv:UnspecifiedMatching MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:exactMatch OMIM:215100 rhizomelic chondrodysplasia punctata, iia 1 semapv:UnspecifiedMatching MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:exactMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:UnspecifiedMatching MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:exactMatch UMLS:C1859133 semapv:UnspecifiedMatching MONDO:0008973 chondrodysplasia punctata, Toriello type skos:exactMatch OMIM:215105 chondrodysplasia punctata syndrome semapv:UnspecifiedMatching MONDO:0008973 chondrodysplasia punctata, Toriello type skos:exactMatch Orphanet:79347 Chondrodysplasia punctata, Toriello type semapv:UnspecifiedMatching MONDO:0008973 chondrodysplasia punctata, Toriello type skos:exactMatch SCTID:715631005 semapv:UnspecifiedMatching MONDO:0008973 chondrodysplasia punctata, Toriello type skos:exactMatch mesh:C565853 semapv:UnspecifiedMatching MONDO:0008974 Greenberg dysplasia skos:exactMatch DOID:0111588 Greenberg dysplasia semapv:UnspecifiedMatching MONDO:0008974 Greenberg dysplasia skos:exactMatch OMIM:215140 greenberg dysplasia semapv:UnspecifiedMatching MONDO:0008974 Greenberg dysplasia skos:exactMatch Orphanet:1426 Greenberg dysplasia semapv:UnspecifiedMatching MONDO:0008974 Greenberg dysplasia skos:exactMatch SCTID:389261002 semapv:UnspecifiedMatching MONDO:0008974 Greenberg dysplasia skos:exactMatch UMLS:C2931048 semapv:UnspecifiedMatching MONDO:0008974 Greenberg dysplasia skos:exactMatch mesh:C535858 semapv:UnspecifiedMatching MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:UnspecifiedMatching MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch OMIMPS:184840 semapv:UnspecifiedMatching MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch Orphanet:1427 Otospondylomegaepiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch SCTID:254060000 semapv:UnspecifiedMatching MONDO:0008976 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome skos:exactMatch OMIM:215250 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome semapv:UnspecifiedMatching MONDO:0008976 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome skos:exactMatch UMLS:C1859104 semapv:UnspecifiedMatching MONDO:0008976 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome skos:exactMatch mesh:C565852 semapv:UnspecifiedMatching MONDO:0008977 chondrosarcoma skos:exactMatch DOID:3371 chondrosarcoma semapv:UnspecifiedMatching MONDO:0008977 chondrosarcoma skos:exactMatch NCIT:C2946 Chondrosarcoma semapv:UnspecifiedMatching MONDO:0008977 chondrosarcoma skos:exactMatch OMIM:215300 chondrosarcoma semapv:UnspecifiedMatching MONDO:0008977 chondrosarcoma skos:exactMatch Orphanet:55880 Chondrosarcoma semapv:UnspecifiedMatching MONDO:0008977 chondrosarcoma skos:exactMatch SCTID:443520009 semapv:UnspecifiedMatching MONDO:0008977 chondrosarcoma skos:exactMatch UMLS:C0008479 semapv:UnspecifiedMatching MONDO:0008977 chondrosarcoma skos:exactMatch mesh:D002813 semapv:UnspecifiedMatching MONDO:0008978 chordoma skos:exactMatch DOID:3302 chordoma semapv:UnspecifiedMatching MONDO:0008978 chordoma skos:exactMatch NCIT:C2947 Chordoma semapv:UnspecifiedMatching MONDO:0008978 chordoma skos:exactMatch OMIM:215400 chordoma, susceptibility to semapv:UnspecifiedMatching MONDO:0008978 chordoma skos:exactMatch Orphanet:178 Chordoma semapv:UnspecifiedMatching MONDO:0008978 chordoma skos:exactMatch UMLS:C0008487 semapv:UnspecifiedMatching MONDO:0008978 chordoma skos:exactMatch mesh:D002817 semapv:UnspecifiedMatching MONDO:0008979 chorea, benign familial skos:exactMatch OMIM:215450 chorea, benign familial semapv:UnspecifiedMatching MONDO:0008979 chorea, benign familial skos:exactMatch UMLS:C1859098 semapv:UnspecifiedMatching MONDO:0008979 chorea, benign familial skos:exactMatch mesh:C565851 semapv:UnspecifiedMatching MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch DOID:0111265 Boucher-Neuhauser syndrome semapv:UnspecifiedMatching MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch OMIM:215470 boucher-neuhauser syndrome semapv:UnspecifiedMatching MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:UnspecifiedMatching MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch SCTID:715984007 semapv:UnspecifiedMatching MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch UMLS:C1859093 semapv:UnspecifiedMatching MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch mesh:C565850 semapv:UnspecifiedMatching MONDO:0008981 infantile choroidocerebral calcification syndrome skos:exactMatch OMIM:215480 choroid plexus calcification and mental retardation semapv:UnspecifiedMatching MONDO:0008981 infantile choroidocerebral calcification syndrome skos:exactMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:UnspecifiedMatching MONDO:0008981 infantile choroidocerebral calcification syndrome skos:exactMatch SCTID:724228005 semapv:UnspecifiedMatching MONDO:0008981 infantile choroidocerebral calcification syndrome skos:exactMatch UMLS:C1859092 semapv:UnspecifiedMatching MONDO:0008981 infantile choroidocerebral calcification syndrome skos:exactMatch mesh:C535357 semapv:UnspecifiedMatching MONDO:0008982 central areolar choroidal dystrophy skos:exactMatch OMIMPS:215500 semapv:UnspecifiedMatching MONDO:0008982 central areolar choroidal dystrophy skos:exactMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:UnspecifiedMatching MONDO:0008982 central areolar choroidal dystrophy skos:exactMatch SCTID:231996009 semapv:UnspecifiedMatching MONDO:0008982 central areolar choroidal dystrophy skos:exactMatch SCTID:312918002 semapv:UnspecifiedMatching MONDO:0008983 chromosomal instability with tissue-specific radiosensitivity skos:exactMatch OMIM:215510 chromosomal instability with tissue-specific radiosensitivity semapv:UnspecifiedMatching MONDO:0008983 chromosomal instability with tissue-specific radiosensitivity skos:exactMatch mesh:C565848 semapv:UnspecifiedMatching MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:exactMatch OMIM:215518 ciliary discoordination due to random ciliary orientation semapv:UnspecifiedMatching MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:exactMatch SCTID:233667003 semapv:UnspecifiedMatching MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:exactMatch UMLS:C0340038 semapv:UnspecifiedMatching MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:exactMatch mesh:C562757 semapv:UnspecifiedMatching MONDO:0008985 ciliary dyskinesia with transposition of ciliary microtubules skos:exactMatch OMIM:215520 ciliary dyskinesia with transposition of ciliary microtubules semapv:UnspecifiedMatching MONDO:0008985 ciliary dyskinesia with transposition of ciliary microtubules skos:exactMatch UMLS:C2673817 semapv:UnspecifiedMatching MONDO:0008985 ciliary dyskinesia with transposition of ciliary microtubules skos:exactMatch mesh:C567137 semapv:UnspecifiedMatching MONDO:0008986 circumvallate placenta syndrome skos:exactMatch OMIM:215550 circumvallate placenta syndrome semapv:UnspecifiedMatching MONDO:0008986 circumvallate placenta syndrome skos:exactMatch UMLS:C1859089 semapv:UnspecifiedMatching MONDO:0008986 circumvallate placenta syndrome skos:exactMatch mesh:C565847 semapv:UnspecifiedMatching MONDO:0008988 citrullinemia type I skos:exactMatch DOID:0070340 classic citrullinemia semapv:UnspecifiedMatching MONDO:0008988 citrullinemia type I skos:exactMatch NCIT:C150601 Citrullinemia Type I semapv:UnspecifiedMatching MONDO:0008988 citrullinemia type I skos:exactMatch OMIM:215700 citrullinemia, classic semapv:UnspecifiedMatching MONDO:0008988 citrullinemia type I skos:exactMatch Orphanet:247525 Citrullinemia type I semapv:UnspecifiedMatching MONDO:0008988 citrullinemia type I skos:exactMatch SCTID:398680004 semapv:UnspecifiedMatching MONDO:0008989 citrulline transport defect skos:exactMatch OMIM:215720 citrulline transport defect semapv:UnspecifiedMatching MONDO:0008989 citrulline transport defect skos:exactMatch UMLS:C1859084 semapv:UnspecifiedMatching MONDO:0008989 citrulline transport defect skos:exactMatch mesh:C536207 semapv:UnspecifiedMatching MONDO:0008990 cleft larynx, posterior skos:exactMatch OMIM:215800 cleft larynx, posterior semapv:UnspecifiedMatching MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:exactMatch OMIM:215850 cleft-limb-heart malformation syndrome semapv:UnspecifiedMatching MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:exactMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:UnspecifiedMatching MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:exactMatch SCTID:764697003 semapv:UnspecifiedMatching MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:exactMatch UMLS:C1859082 semapv:UnspecifiedMatching MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:exactMatch mesh:C536541 semapv:UnspecifiedMatching MONDO:0008992 Juberg-Hayward syndrome skos:exactMatch OMIM:216100 juberg-hayward syndrome semapv:UnspecifiedMatching MONDO:0008992 Juberg-Hayward syndrome skos:exactMatch Orphanet:2319 Juberg-Hayward syndrome semapv:UnspecifiedMatching MONDO:0008992 Juberg-Hayward syndrome skos:exactMatch SCTID:721874001 semapv:UnspecifiedMatching MONDO:0008992 Juberg-Hayward syndrome skos:exactMatch UMLS:C0796099 semapv:UnspecifiedMatching MONDO:0008992 Juberg-Hayward syndrome skos:exactMatch mesh:C537690 semapv:UnspecifiedMatching MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:exactMatch OMIM:216300 cleft palate, deafness, and oligodontia semapv:UnspecifiedMatching MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:exactMatch Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome semapv:UnspecifiedMatching MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:exactMatch UMLS:C1859081 semapv:UnspecifiedMatching MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:exactMatch mesh:C565844 semapv:UnspecifiedMatching MONDO:0008994 cleidocranial dysplasia, recessive form skos:exactMatch OMIM:216330 cleidocranial dysplasia, recessive form semapv:UnspecifiedMatching MONDO:0008994 cleidocranial dysplasia, recessive form skos:exactMatch UMLS:C1859080 semapv:UnspecifiedMatching MONDO:0008994 cleidocranial dysplasia, recessive form skos:exactMatch mesh:C565843 semapv:UnspecifiedMatching MONDO:0008995 Yunis-Varon syndrome skos:exactMatch DOID:0060589 Yunis-Varon syndrome semapv:UnspecifiedMatching MONDO:0008995 Yunis-Varon syndrome skos:exactMatch OMIM:216340 yunis-varon syndrome semapv:UnspecifiedMatching MONDO:0008995 Yunis-Varon syndrome skos:exactMatch Orphanet:3472 Yunis-Varon syndrome semapv:UnspecifiedMatching MONDO:0008995 Yunis-Varon syndrome skos:exactMatch UMLS:C1857663 semapv:UnspecifiedMatching MONDO:0008995 Yunis-Varon syndrome skos:exactMatch mesh:C536719 semapv:UnspecifiedMatching MONDO:0008998 Cockayne syndrome type 3 skos:exactMatch Orphanet:90324 Cockayne syndrome type 3 semapv:UnspecifiedMatching MONDO:0008999 Cohen syndrome skos:exactMatch DOID:0111590 Cohen syndrome semapv:UnspecifiedMatching MONDO:0008999 Cohen syndrome skos:exactMatch OMIM:216550 cohen syndrome semapv:UnspecifiedMatching MONDO:0008999 Cohen syndrome skos:exactMatch Orphanet:193 Cohen syndrome semapv:UnspecifiedMatching MONDO:0008999 Cohen syndrome skos:exactMatch SCTID:56604005 semapv:UnspecifiedMatching MONDO:0008999 Cohen syndrome skos:exactMatch UMLS:C0265223 semapv:UnspecifiedMatching MONDO:0008999 Cohen syndrome skos:exactMatch mesh:C536438 semapv:UnspecifiedMatching MONDO:0009000 familial reactive perforating collagenosis skos:exactMatch OMIM:216700 collagenosis, familial reactive perforating semapv:UnspecifiedMatching MONDO:0009000 familial reactive perforating collagenosis skos:exactMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:UnspecifiedMatching MONDO:0009000 familial reactive perforating collagenosis skos:exactMatch UMLS:C1857624 semapv:UnspecifiedMatching MONDO:0009000 familial reactive perforating collagenosis skos:exactMatch mesh:C565687 semapv:UnspecifiedMatching MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:exactMatch OMIM:216800 coloboma of macula and skeletal anomalies semapv:UnspecifiedMatching MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:exactMatch Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome semapv:UnspecifiedMatching MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:exactMatch SCTID:722463001 semapv:UnspecifiedMatching MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:exactMatch UMLS:C1857619 semapv:UnspecifiedMatching MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:exactMatch mesh:C565686 semapv:UnspecifiedMatching MONDO:0009002 coloboma, ocular, autosomal recessive skos:exactMatch OMIM:216820 coloboma, ocular, autosomal recessive semapv:UnspecifiedMatching MONDO:0009002 coloboma, ocular, autosomal recessive skos:exactMatch UMLS:C4011974 semapv:UnspecifiedMatching MONDO:0009003 achromatopsia 2 skos:exactMatch DOID:0110007 achromatopsia 2 semapv:UnspecifiedMatching MONDO:0009003 achromatopsia 2 skos:exactMatch NCIT:C168757 Achromatopsia 2 semapv:UnspecifiedMatching MONDO:0009003 achromatopsia 2 skos:exactMatch OMIM:216900 achromatopsia 2 semapv:UnspecifiedMatching MONDO:0009003 achromatopsia 2 skos:exactMatch UMLS:C1857618 semapv:UnspecifiedMatching MONDO:0009003 achromatopsia 2 skos:exactMatch mesh:C536128 semapv:UnspecifiedMatching MONDO:0009005 complement component C1r/C1s deficiency skos:exactMatch NCIT:C119991 C1r/C1s Deficiency semapv:UnspecifiedMatching MONDO:0009005 complement component C1r/C1s deficiency skos:exactMatch OMIM:216950 complement component c1r/c1s deficiency semapv:UnspecifiedMatching MONDO:0009005 complement component C1r/C1s deficiency skos:exactMatch UMLS:C3150274 semapv:UnspecifiedMatching MONDO:0009006 complement component 2 deficiency skos:exactMatch DOID:0060295 complement component 2 deficiency semapv:UnspecifiedMatching MONDO:0009006 complement component 2 deficiency skos:exactMatch NCIT:C119992 C2 Deficiency semapv:UnspecifiedMatching MONDO:0009006 complement component 2 deficiency skos:exactMatch OMIM:217000 complement component 2 deficiency semapv:UnspecifiedMatching MONDO:0009006 complement component 2 deficiency skos:exactMatch UMLS:C3150275 semapv:UnspecifiedMatching MONDO:0009007 Jalili syndrome skos:exactMatch DOID:0111404 Jalili syndrome semapv:UnspecifiedMatching MONDO:0009007 Jalili syndrome skos:exactMatch OMIM:217080 jalili syndrome semapv:UnspecifiedMatching MONDO:0009007 Jalili syndrome skos:exactMatch Orphanet:1873 Jalili syndrome semapv:UnspecifiedMatching MONDO:0009007 Jalili syndrome skos:exactMatch SCTID:707608003 semapv:UnspecifiedMatching MONDO:0009007 Jalili syndrome skos:exactMatch UMLS:C3495589 semapv:UnspecifiedMatching MONDO:0009007 Jalili syndrome skos:exactMatch mesh:C000596385 semapv:UnspecifiedMatching MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:exactMatch DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly semapv:UnspecifiedMatching MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:exactMatch OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly semapv:UnspecifiedMatching MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:exactMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:UnspecifiedMatching MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:exactMatch UMLS:C1857587 semapv:UnspecifiedMatching MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:exactMatch mesh:C535849 semapv:UnspecifiedMatching MONDO:0009009 hypoplasminogenemia skos:exactMatch DOID:0111592 plasminogen deficiency type I semapv:UnspecifiedMatching MONDO:0009009 hypoplasminogenemia skos:exactMatch OMIM:217090 plasminogen deficiency, iia 1 semapv:UnspecifiedMatching MONDO:0009009 hypoplasminogenemia skos:exactMatch Orphanet:722 Hypoplasminogenemia semapv:UnspecifiedMatching MONDO:0009009 hypoplasminogenemia skos:exactMatch SCTID:95840007 semapv:UnspecifiedMatching MONDO:0009009 hypoplasminogenemia skos:exactMatch UMLS:C0398621 semapv:UnspecifiedMatching MONDO:0009009 hypoplasminogenemia skos:exactMatch mesh:C580017 semapv:UnspecifiedMatching MONDO:0009010 aortic arch interruption skos:exactMatch ICD10CM:Q25.21 Interruption of aortic arch semapv:UnspecifiedMatching MONDO:0009010 aortic arch interruption skos:exactMatch Orphanet:2299 Aortic arch interruption semapv:UnspecifiedMatching MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:exactMatch OMIM:217150 contractures, congenital, torticollis, and malignant hyperthermia semapv:UnspecifiedMatching MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:exactMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:UnspecifiedMatching MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:exactMatch UMLS:C1857576 semapv:UnspecifiedMatching MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:exactMatch mesh:C565679 semapv:UnspecifiedMatching MONDO:0009013 convulsive disorder, familial, with prenatal or early onset skos:exactMatch OMIM:217200 convulsive disorder, familial, with prenatal or early onset semapv:UnspecifiedMatching MONDO:0009013 convulsive disorder, familial, with prenatal or early onset skos:exactMatch UMLS:C1857575 semapv:UnspecifiedMatching MONDO:0009013 convulsive disorder, familial, with prenatal or early onset skos:exactMatch mesh:C565678 semapv:UnspecifiedMatching MONDO:0009014 cornea plana 2 skos:exactMatch OMIM:217300 cornea plana 2, autosomal recessive semapv:UnspecifiedMatching MONDO:0009014 cornea plana 2 skos:exactMatch UMLS:C1857574 semapv:UnspecifiedMatching MONDO:0009014 cornea plana 2 skos:exactMatch mesh:C565677 semapv:UnspecifiedMatching MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:exactMatch DOID:0111620 corneal dystrophy-perceptive deafness syndrome semapv:UnspecifiedMatching MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:exactMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:UnspecifiedMatching MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:exactMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:UnspecifiedMatching MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:exactMatch SCTID:720749004 semapv:UnspecifiedMatching MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:exactMatch UMLS:C1857572 semapv:UnspecifiedMatching MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:exactMatch mesh:C535473 semapv:UnspecifiedMatching MONDO:0009016 band keratopathy skos:exactMatch DOID:11164 band keratopathy semapv:UnspecifiedMatching MONDO:0009016 band keratopathy skos:exactMatch NCIT:C118765 Band Keratopathy semapv:UnspecifiedMatching MONDO:0009016 band keratopathy skos:exactMatch OMIM:217500 corneal dystrophy, band-shaped semapv:UnspecifiedMatching MONDO:0009016 band keratopathy skos:exactMatch SCTID:35055000 semapv:UnspecifiedMatching MONDO:0009016 band keratopathy skos:exactMatch UMLS:C0155120 semapv:UnspecifiedMatching MONDO:0009016 band keratopathy skos:exactMatch mesh:C562399 semapv:UnspecifiedMatching MONDO:0009017 corneal degeneration, band-shaped spheroid skos:exactMatch OMIM:217520 corneal degeneration, band-shaped spheroid semapv:UnspecifiedMatching MONDO:0009018 central cloudy dystrophy of François skos:exactMatch OMIM:217600 central cloudy dystrophy of francois semapv:UnspecifiedMatching MONDO:0009018 central cloudy dystrophy of François skos:exactMatch Orphanet:98972 Central cloudy dystrophy of François semapv:UnspecifiedMatching MONDO:0009018 central cloudy dystrophy of François skos:exactMatch SCTID:419074008 semapv:UnspecifiedMatching MONDO:0009018 central cloudy dystrophy of François skos:exactMatch UMLS:C1622427 semapv:UnspecifiedMatching MONDO:0009018 central cloudy dystrophy of François skos:exactMatch mesh:C563262 semapv:UnspecifiedMatching MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:exactMatch DOID:0060649 congenital hereditary endothelial dystrophy of cornea semapv:UnspecifiedMatching MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:exactMatch OMIM:217700 corneal endothelial dystrophy semapv:UnspecifiedMatching MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:exactMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:UnspecifiedMatching MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:exactMatch mesh:C536439 semapv:UnspecifiedMatching MONDO:0009020 macular corneal dystrophy skos:exactMatch DOID:2565 macular corneal dystrophy semapv:UnspecifiedMatching MONDO:0009020 macular corneal dystrophy skos:exactMatch ICD10CM:H18.55 Macular corneal dystrophy semapv:UnspecifiedMatching MONDO:0009020 macular corneal dystrophy skos:exactMatch NCIT:C34793 Macular Corneal Dystrophy semapv:UnspecifiedMatching MONDO:0009020 macular corneal dystrophy skos:exactMatch OMIM:217800 macular dystrophy, corneal semapv:UnspecifiedMatching MONDO:0009020 macular corneal dystrophy skos:exactMatch Orphanet:98969 Macular corneal dystrophy semapv:UnspecifiedMatching MONDO:0009020 macular corneal dystrophy skos:exactMatch SCTID:60258001 semapv:UnspecifiedMatching MONDO:0009020 macular corneal dystrophy skos:exactMatch UMLS:C1636149 semapv:UnspecifiedMatching MONDO:0009020 macular corneal dystrophy skos:exactMatch mesh:C537834 semapv:UnspecifiedMatching MONDO:0009021 Toriello-Carey syndrome skos:exactMatch OMIM:217980 corpus callosum, agenesis of, with facial anomalies and robin sequence semapv:UnspecifiedMatching MONDO:0009021 Toriello-Carey syndrome skos:exactMatch Orphanet:3338 Toriello-Carey syndrome semapv:UnspecifiedMatching MONDO:0009021 Toriello-Carey syndrome skos:exactMatch SCTID:722477003 semapv:UnspecifiedMatching MONDO:0009021 Toriello-Carey syndrome skos:exactMatch UMLS:C0796184 semapv:UnspecifiedMatching MONDO:0009021 Toriello-Carey syndrome skos:exactMatch mesh:C563127 semapv:UnspecifiedMatching MONDO:0009022 corpus callosum, agenesis of skos:exactMatch NCIT:C98905 Corpus Callosum Agenesis semapv:UnspecifiedMatching MONDO:0009022 corpus callosum, agenesis of skos:exactMatch OMIM:217990 corpus callosum, agenesis of semapv:UnspecifiedMatching MONDO:0009022 corpus callosum, agenesis of skos:exactMatch SCTID:5102002 semapv:UnspecifiedMatching MONDO:0009022 corpus callosum, agenesis of skos:exactMatch mesh:D061085 semapv:UnspecifiedMatching MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:exactMatch OMIM:218010 cortical blindness, retardation, and postaxial polydactyly semapv:UnspecifiedMatching MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:exactMatch Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome semapv:UnspecifiedMatching MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:exactMatch UMLS:C1857568 semapv:UnspecifiedMatching MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:exactMatch mesh:C565674 semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch DOID:4367 apparent mineralocorticoid excess syndrome semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch NCIT:C123231 Syndrome of Apparent Mineralocorticoid Excess semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch NCIT:C131083 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch OMIM:218030 apparent mineralocorticoid excess semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch Orphanet:320 Apparent mineralocorticoid excess semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch SCTID:237770005 semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch SCTID:703256004 semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch UMLS:C0342488 semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch mesh:C537422 semapv:UnspecifiedMatching MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch mesh:D043204 semapv:UnspecifiedMatching MONDO:0009026 Costello syndrome skos:exactMatch DOID:0050469 Costello syndrome semapv:UnspecifiedMatching MONDO:0009026 Costello syndrome skos:exactMatch NCIT:C84652 Costello Syndrome semapv:UnspecifiedMatching MONDO:0009026 Costello syndrome skos:exactMatch OMIM:218040 costello syndrome semapv:UnspecifiedMatching MONDO:0009026 Costello syndrome skos:exactMatch Orphanet:3071 Costello syndrome semapv:UnspecifiedMatching MONDO:0009026 Costello syndrome skos:exactMatch SCTID:309776008 semapv:UnspecifiedMatching MONDO:0009026 Costello syndrome skos:exactMatch UMLS:C0587248 semapv:UnspecifiedMatching MONDO:0009026 Costello syndrome skos:exactMatch mesh:D056685 semapv:UnspecifiedMatching MONDO:0009027 cramps, familial adolescent skos:exactMatch OMIM:218050 cramps, familial adolescent semapv:UnspecifiedMatching MONDO:0009028 Crane-Heise syndrome skos:exactMatch OMIM:218090 crane-heise syndrome semapv:UnspecifiedMatching MONDO:0009028 Crane-Heise syndrome skos:exactMatch Orphanet:1512 Crane-Heise syndrome semapv:UnspecifiedMatching MONDO:0009028 Crane-Heise syndrome skos:exactMatch SCTID:715991005 semapv:UnspecifiedMatching MONDO:0009028 Crane-Heise syndrome skos:exactMatch UMLS:C1857532 semapv:UnspecifiedMatching MONDO:0009028 Crane-Heise syndrome skos:exactMatch mesh:C536452 semapv:UnspecifiedMatching MONDO:0009029 cranial nerves, congenital paresis of skos:exactMatch OMIM:218100 cranial nerves, congenital paresis of semapv:UnspecifiedMatching MONDO:0009029 cranial nerves, congenital paresis of skos:exactMatch UMLS:C1857531 semapv:UnspecifiedMatching MONDO:0009029 cranial nerves, congenital paresis of skos:exactMatch mesh:C565673 semapv:UnspecifiedMatching MONDO:0009030 cranial nerves, recurrent paresis of skos:exactMatch OMIM:218200 cranial nerves, recurrent paresis of semapv:UnspecifiedMatching MONDO:0009030 cranial nerves, recurrent paresis of skos:exactMatch UMLS:C1857530 semapv:UnspecifiedMatching MONDO:0009030 cranial nerves, recurrent paresis of skos:exactMatch mesh:C565672 semapv:UnspecifiedMatching MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch DOID:0080032 craniodiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch NCIT:C131429 Craniodiaphyseal Dysplasia semapv:UnspecifiedMatching MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch OMIM:218300 craniodiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch SCTID:205506004 semapv:UnspecifiedMatching MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch UMLS:C0410539 semapv:UnspecifiedMatching MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch mesh:C562940 semapv:UnspecifiedMatching MONDO:0009032 cranioectodermal dysplasia skos:exactMatch DOID:0050577 cranioectodermal dysplasia semapv:UnspecifiedMatching MONDO:0009032 cranioectodermal dysplasia skos:exactMatch NCIT:C129305 Cranioectodermal Dysplasia semapv:UnspecifiedMatching MONDO:0009032 cranioectodermal dysplasia skos:exactMatch OMIMPS:218330 semapv:UnspecifiedMatching MONDO:0009032 cranioectodermal dysplasia skos:exactMatch Orphanet:1515 Cranioectodermal dysplasia semapv:UnspecifiedMatching MONDO:0009032 cranioectodermal dysplasia skos:exactMatch SCTID:254093009 semapv:UnspecifiedMatching MONDO:0009032 cranioectodermal dysplasia skos:exactMatch UMLS:C4551571 semapv:UnspecifiedMatching MONDO:0009033 temtamy syndrome skos:exactMatch DOID:0111621 Temtamy syndrome semapv:UnspecifiedMatching MONDO:0009033 temtamy syndrome skos:exactMatch NCIT:C148371 Temtamy Syndrome semapv:UnspecifiedMatching MONDO:0009033 temtamy syndrome skos:exactMatch OMIM:218340 temtamy syndrome semapv:UnspecifiedMatching MONDO:0009033 temtamy syndrome skos:exactMatch Orphanet:1777 Temtamy syndrome semapv:UnspecifiedMatching MONDO:0009033 temtamy syndrome skos:exactMatch SCTID:719947004 semapv:UnspecifiedMatching MONDO:0009033 temtamy syndrome skos:exactMatch UMLS:C1857512 semapv:UnspecifiedMatching MONDO:0009033 temtamy syndrome skos:exactMatch mesh:C536959 semapv:UnspecifiedMatching MONDO:0009034 craniofacial dyssynostosis skos:exactMatch OMIM:218350 craniofacial dyssynostosis with short stature semapv:UnspecifiedMatching MONDO:0009034 craniofacial dyssynostosis skos:exactMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:UnspecifiedMatching MONDO:0009034 craniofacial dyssynostosis skos:exactMatch UMLS:C1857511 semapv:UnspecifiedMatching MONDO:0009034 craniofacial dyssynostosis skos:exactMatch mesh:C536455 semapv:UnspecifiedMatching MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:exactMatch DOID:0080802 autosomal recessive craniometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:exactMatch OMIM:218400 craniometaphyseal dysplasia, autosomal recessive semapv:UnspecifiedMatching MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:exactMatch mesh:C536570 semapv:UnspecifiedMatching MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:exactMatch OMIM:218450 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis semapv:UnspecifiedMatching MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:exactMatch Orphanet:2872 Cardiocranial syndrome, Pfeiffer type semapv:UnspecifiedMatching MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:exactMatch SCTID:720606005 semapv:UnspecifiedMatching MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:exactMatch UMLS:C1857495 semapv:UnspecifiedMatching MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:exactMatch mesh:C535578 semapv:UnspecifiedMatching MONDO:0009037 craniosynostosis with anomalies of the cranial base and digits skos:exactMatch OMIM:218530 craniosynostosis with anomalies of the cranial base and digits semapv:UnspecifiedMatching MONDO:0009037 craniosynostosis with anomalies of the cranial base and digits skos:exactMatch UMLS:C1857493 semapv:UnspecifiedMatching MONDO:0009037 craniosynostosis with anomalies of the cranial base and digits skos:exactMatch mesh:C565666 semapv:UnspecifiedMatching MONDO:0009038 craniosynostosis-fibular aplasia syndrome skos:exactMatch OMIM:218550 craniosynostosis with fibular aplasia semapv:UnspecifiedMatching MONDO:0009038 craniosynostosis-fibular aplasia syndrome skos:exactMatch SCTID:732250002 semapv:UnspecifiedMatching MONDO:0009038 craniosynostosis-fibular aplasia syndrome skos:exactMatch UMLS:C1857492 semapv:UnspecifiedMatching MONDO:0009038 craniosynostosis-fibular aplasia syndrome skos:exactMatch mesh:C565665 semapv:UnspecifiedMatching MONDO:0009039 Baller-Gerold syndrome skos:exactMatch DOID:0050654 Baller-Gerold syndrome semapv:UnspecifiedMatching MONDO:0009039 Baller-Gerold syndrome skos:exactMatch OMIM:218600 baller-gerold syndrome semapv:UnspecifiedMatching MONDO:0009039 Baller-Gerold syndrome skos:exactMatch Orphanet:1225 Baller-Gerold syndrome semapv:UnspecifiedMatching MONDO:0009039 Baller-Gerold syndrome skos:exactMatch SCTID:77608001 semapv:UnspecifiedMatching MONDO:0009039 Baller-Gerold syndrome skos:exactMatch UMLS:C0265308 semapv:UnspecifiedMatching MONDO:0009039 Baller-Gerold syndrome skos:exactMatch mesh:C536788 semapv:UnspecifiedMatching MONDO:0009040 craniosynostosis-intellectual disability syndrome of 51N and Gettig skos:exactMatch OMIM:218649 craniosynostosis-mental retardation syndrome of 51n and gettig semapv:UnspecifiedMatching MONDO:0009040 craniosynostosis-intellectual disability syndrome of 51N and Gettig skos:exactMatch UMLS:C1857473 semapv:UnspecifiedMatching MONDO:0009040 craniosynostosis-intellectual disability syndrome of 51N and Gettig skos:exactMatch mesh:C565664 semapv:UnspecifiedMatching MONDO:0009041 craniosynostosis-intellectual disability-clefting syndrome skos:exactMatch OMIM:218650 craniosynostosis-mental retardation-clefting syndrome semapv:UnspecifiedMatching MONDO:0009041 craniosynostosis-intellectual disability-clefting syndrome skos:exactMatch UMLS:C1857472 semapv:UnspecifiedMatching MONDO:0009041 craniosynostosis-intellectual disability-clefting syndrome skos:exactMatch mesh:C537906 semapv:UnspecifiedMatching MONDO:0009041 craniosynostosis-intellectual disability-clefting syndrome skos:exactMatch mesh:C565663 semapv:UnspecifiedMatching MONDO:0009042 craniotelencephalic dysplasia skos:exactMatch OMIM:218670 craniotelencephalic dysplasia semapv:UnspecifiedMatching MONDO:0009042 craniotelencephalic dysplasia skos:exactMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:UnspecifiedMatching MONDO:0009042 craniotelencephalic dysplasia skos:exactMatch SCTID:715422002 semapv:UnspecifiedMatching MONDO:0009042 craniotelencephalic dysplasia skos:exactMatch UMLS:C1857471 semapv:UnspecifiedMatching MONDO:0009042 craniotelencephalic dysplasia skos:exactMatch mesh:C535597 semapv:UnspecifiedMatching MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch DOID:3803 Crigler-Najjar syndrome semapv:UnspecifiedMatching MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch ICD10CM:E80.5 Crigler-Najjar syndrome semapv:UnspecifiedMatching MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch NCIT:C84656 Crigler-Najjar Syndrome semapv:UnspecifiedMatching MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch Orphanet:205 Crigler-Najjar syndrome semapv:UnspecifiedMatching MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch SCTID:28259009 semapv:UnspecifiedMatching MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch UMLS:C5551003 semapv:UnspecifiedMatching MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch mesh:D003414 semapv:UnspecifiedMatching MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:exactMatch OMIM:218900 crome syndrome semapv:UnspecifiedMatching MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:exactMatch Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome semapv:UnspecifiedMatching MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:exactMatch SCTID:722381004 semapv:UnspecifiedMatching MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:exactMatch UMLS:C0795914 semapv:UnspecifiedMatching MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:exactMatch mesh:C536216 semapv:UnspecifiedMatching MONDO:0009046 Fraser syndrome skos:exactMatch DOID:0090001 Fraser syndrome semapv:UnspecifiedMatching MONDO:0009046 Fraser syndrome skos:exactMatch NCIT:C118436 Fraser Syndrome semapv:UnspecifiedMatching MONDO:0009046 Fraser syndrome skos:exactMatch OMIMPS:219000 semapv:UnspecifiedMatching MONDO:0009046 Fraser syndrome skos:exactMatch Orphanet:2052 Fraser syndrome semapv:UnspecifiedMatching MONDO:0009046 Fraser syndrome skos:exactMatch SCTID:204102004 semapv:UnspecifiedMatching MONDO:0009046 Fraser syndrome skos:exactMatch UMLS:C0265233 semapv:UnspecifiedMatching MONDO:0009046 Fraser syndrome skos:exactMatch mesh:D058497 semapv:UnspecifiedMatching MONDO:0009047 cryptorchidism skos:exactMatch DOID:11383 cryptorchidism semapv:UnspecifiedMatching MONDO:0009047 cryptorchidism skos:exactMatch NCIT:C12326 Undescended Testes semapv:UnspecifiedMatching MONDO:0009047 cryptorchidism skos:exactMatch OMIM:219050 cryptorchidism, unilateral or bilateral semapv:UnspecifiedMatching MONDO:0009047 cryptorchidism skos:exactMatch SCTID:204878001 semapv:UnspecifiedMatching MONDO:0009047 cryptorchidism skos:exactMatch mesh:D003456 semapv:UnspecifiedMatching MONDO:0009048 curved nail of fourth toe skos:exactMatch OMIM:219070 curved nail of fourth toe semapv:UnspecifiedMatching MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:UnspecifiedMatching MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease semapv:UnspecifiedMatching MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch SCTID:720459002 semapv:UnspecifiedMatching MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch UMLS:C2062388 semapv:UnspecifiedMatching MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch mesh:C565662 semapv:UnspecifiedMatching MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch DOID:7004 ACTH-secreting pituitary adenoma semapv:UnspecifiedMatching MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch NCIT:C113210 Cushing Disease semapv:UnspecifiedMatching MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch OMIM:219090 pituitary adenoma 4, acth-secreting semapv:UnspecifiedMatching MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch Orphanet:96253 Cushing disease semapv:UnspecifiedMatching MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch SCTID:254958004 semapv:UnspecifiedMatching MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch UMLS:C0221406 semapv:UnspecifiedMatching MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch mesh:D049913 semapv:UnspecifiedMatching MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:exactMatch OMIM:219095 cutaneous photosensitivity and colitis, lethal semapv:UnspecifiedMatching MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:exactMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:UnspecifiedMatching MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:exactMatch UMLS:C1857449 semapv:UnspecifiedMatching MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:exactMatch mesh:C536224 semapv:UnspecifiedMatching MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:exactMatch DOID:0070135 autosomal recessive cutis laxa type IA semapv:UnspecifiedMatching MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:exactMatch OMIM:219100 cutis laxa, autosomal recessive, iia 1a semapv:UnspecifiedMatching MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:exactMatch SCTID:59451000 semapv:UnspecifiedMatching MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:exactMatch UMLS:C0268351 semapv:UnspecifiedMatching MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:exactMatch mesh:C562628 semapv:UnspecifiedMatching MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:exactMatch DOID:0070132 autosomal recessive cutis laxa type IIIA semapv:UnspecifiedMatching MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:exactMatch OMIM:219150 cutis laxa, autosomal recessive, iia 3a semapv:UnspecifiedMatching MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:exactMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:UnspecifiedMatching MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:exactMatch SCTID:59252009 semapv:UnspecifiedMatching MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:exactMatch DOID:0070141 autosomal recessive cutis laxa type II classic type semapv:UnspecifiedMatching MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:exactMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:UnspecifiedMatching MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:exactMatch SCTID:73856006 semapv:UnspecifiedMatching MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:exactMatch mesh:C562632 semapv:UnspecifiedMatching MONDO:0009055 cutis marmorata telangiectatica congenita skos:exactMatch OMIM:219250 cutis marmorata telangiectatica congenita semapv:UnspecifiedMatching MONDO:0009055 cutis marmorata telangiectatica congenita skos:exactMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:UnspecifiedMatching MONDO:0009055 cutis marmorata telangiectatica congenita skos:exactMatch SCTID:254778000 semapv:UnspecifiedMatching MONDO:0009055 cutis marmorata telangiectatica congenita skos:exactMatch mesh:C536226 semapv:UnspecifiedMatching MONDO:0009056 cutis verticis gyrata and intellectual disability skos:exactMatch OMIM:219300 cutis verticis gyrata and mental retardation semapv:UnspecifiedMatching MONDO:0009056 cutis verticis gyrata and intellectual disability skos:exactMatch UMLS:C1857444 semapv:UnspecifiedMatching MONDO:0009057 cyanosis and hepatic disease skos:exactMatch OMIM:219400 cyanosis and hepatic disease semapv:UnspecifiedMatching MONDO:0009057 cyanosis and hepatic disease skos:exactMatch UMLS:C1857443 semapv:UnspecifiedMatching MONDO:0009057 cyanosis and hepatic disease skos:exactMatch mesh:C565660 semapv:UnspecifiedMatching MONDO:0009058 cystathioninuria skos:exactMatch DOID:0090142 cystathioninuria semapv:UnspecifiedMatching MONDO:0009058 cystathioninuria skos:exactMatch NCIT:C129070 Cystathioninuria semapv:UnspecifiedMatching MONDO:0009058 cystathioninuria skos:exactMatch OMIM:219500 cystathioninuria semapv:UnspecifiedMatching MONDO:0009058 cystathioninuria skos:exactMatch Orphanet:212 Cystathioninuria semapv:UnspecifiedMatching MONDO:0009058 cystathioninuria skos:exactMatch SCTID:13003007 semapv:UnspecifiedMatching MONDO:0009058 cystathioninuria skos:exactMatch UMLS:C0220993 semapv:UnspecifiedMatching MONDO:0009059 cysteine Peptiduria skos:exactMatch OMIM:219550 cysteine peptiduria semapv:UnspecifiedMatching MONDO:0009059 cysteine Peptiduria skos:exactMatch UMLS:C1857438 semapv:UnspecifiedMatching MONDO:0009059 cysteine Peptiduria skos:exactMatch mesh:C565659 semapv:UnspecifiedMatching MONDO:0009060 cystic disease of lung skos:exactMatch OMIM:219600 cystic disease of lung semapv:UnspecifiedMatching MONDO:0009060 cystic disease of lung skos:exactMatch UMLS:C0555214 semapv:UnspecifiedMatching MONDO:0009060 cystic disease of lung skos:exactMatch mesh:C563237 semapv:UnspecifiedMatching MONDO:0009061 cystic fibrosis skos:exactMatch DOID:1485 cystic fibrosis semapv:UnspecifiedMatching MONDO:0009061 cystic fibrosis skos:exactMatch ICD10CM:E84 Cystic fibrosis semapv:UnspecifiedMatching MONDO:0009061 cystic fibrosis skos:exactMatch NCIT:C2975 Cystic Fibrosis semapv:UnspecifiedMatching MONDO:0009061 cystic fibrosis skos:exactMatch OMIM:219700 cystic fibrosis semapv:UnspecifiedMatching MONDO:0009061 cystic fibrosis skos:exactMatch Orphanet:586 Cystic fibrosis semapv:UnspecifiedMatching MONDO:0009061 cystic fibrosis skos:exactMatch SCTID:190905008 semapv:UnspecifiedMatching MONDO:0009061 cystic fibrosis skos:exactMatch UMLS:C0010674 semapv:UnspecifiedMatching MONDO:0009061 cystic fibrosis skos:exactMatch mesh:D003550 semapv:UnspecifiedMatching MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:exactMatch OMIM:219721 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation semapv:UnspecifiedMatching MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:exactMatch Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome semapv:UnspecifiedMatching MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:exactMatch SCTID:720401009 semapv:UnspecifiedMatching MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:exactMatch mesh:C537039 semapv:UnspecifiedMatching MONDO:0009063 ventriculomegaly-cystic kidney disease skos:exactMatch DOID:0111625 ventriculomegaly - cystic kidney disease semapv:UnspecifiedMatching MONDO:0009063 ventriculomegaly-cystic kidney disease skos:exactMatch OMIM:219730 ventriculomegaly with cystic kidney disease semapv:UnspecifiedMatching MONDO:0009063 ventriculomegaly-cystic kidney disease skos:exactMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:UnspecifiedMatching MONDO:0009063 ventriculomegaly-cystic kidney disease skos:exactMatch UMLS:C1857423 semapv:UnspecifiedMatching MONDO:0009064 ocular cystinosis skos:exactMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:UnspecifiedMatching MONDO:0009064 ocular cystinosis skos:exactMatch Orphanet:411641 Ocular cystinosis semapv:UnspecifiedMatching MONDO:0009064 ocular cystinosis skos:exactMatch UMLS:C2931013 semapv:UnspecifiedMatching MONDO:0009064 ocular cystinosis skos:exactMatch mesh:C535765 semapv:UnspecifiedMatching MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch OMIM:219900 cystinosis, late-onset juvenile or adolescent nephropathic iia semapv:UnspecifiedMatching MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch Orphanet:411634 Juvenile nephropathic cystinosis semapv:UnspecifiedMatching MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch SCTID:22830006 semapv:UnspecifiedMatching MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch UMLS:C0268626 semapv:UnspecifiedMatching MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch mesh:C562683 semapv:UnspecifiedMatching MONDO:0009067 cystinuria skos:exactMatch DOID:9266 cystinuria semapv:UnspecifiedMatching MONDO:0009067 cystinuria skos:exactMatch NCIT:C84664 Cystinuria semapv:UnspecifiedMatching MONDO:0009067 cystinuria skos:exactMatch OMIM:220100 cystinuria semapv:UnspecifiedMatching MONDO:0009067 cystinuria skos:exactMatch Orphanet:214 Cystinuria semapv:UnspecifiedMatching MONDO:0009067 cystinuria skos:exactMatch SCTID:85020001 semapv:UnspecifiedMatching MONDO:0009067 cystinuria skos:exactMatch UMLS:C0010691 semapv:UnspecifiedMatching MONDO:0009067 cystinuria skos:exactMatch mesh:D003555 semapv:UnspecifiedMatching MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch DOID:3762 cytochrome-c oxidase deficiency disease semapv:UnspecifiedMatching MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch NCIT:C98910 Cytochrome-C Oxidase Deficiency semapv:UnspecifiedMatching MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 semapv:UnspecifiedMatching MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:UnspecifiedMatching MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch SCTID:67434000 semapv:UnspecifiedMatching MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch UMLS:C5435656 semapv:UnspecifiedMatching MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch mesh:D030401 semapv:UnspecifiedMatching MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:exactMatch DOID:0111180 French Canadian Leigh disease semapv:UnspecifiedMatching MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:exactMatch OMIM:220111 mitochondrial complex 4 deficiency, nuclear iia 5 semapv:UnspecifiedMatching MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:exactMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:UnspecifiedMatching MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:exactMatch SCTID:718219002 semapv:UnspecifiedMatching MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:exactMatch mesh:C537004 semapv:UnspecifiedMatching MONDO:0009070 D-glyceric aciduria skos:exactMatch DOID:0111626 D-glyceric aciduria semapv:UnspecifiedMatching MONDO:0009070 D-glyceric aciduria skos:exactMatch NCIT:C128804 D-Glyceric Aciduria semapv:UnspecifiedMatching MONDO:0009070 D-glyceric aciduria skos:exactMatch OMIM:220120 d-glyceric aciduria semapv:UnspecifiedMatching MONDO:0009070 D-glyceric aciduria skos:exactMatch Orphanet:941 D-glyceric aciduria semapv:UnspecifiedMatching MONDO:0009070 D-glyceric aciduria skos:exactMatch SCTID:237980004 semapv:UnspecifiedMatching MONDO:0009070 D-glyceric aciduria skos:exactMatch UMLS:C0342765 semapv:UnspecifiedMatching MONDO:0009070 D-glyceric aciduria skos:exactMatch mesh:C535767 semapv:UnspecifiedMatching MONDO:0009071 hereditary renal hypouricemia skos:exactMatch Orphanet:94088 Hereditary renal hypouricemia semapv:UnspecifiedMatching MONDO:0009071 hereditary renal hypouricemia skos:exactMatch SCTID:236478009 semapv:UnspecifiedMatching MONDO:0009071 hereditary renal hypouricemia skos:exactMatch mesh:C537757 semapv:UnspecifiedMatching MONDO:0009072 Dandy-Walker syndrome skos:exactMatch DOID:2785 Dandy-Walker syndrome semapv:UnspecifiedMatching MONDO:0009072 Dandy-Walker syndrome skos:exactMatch NCIT:C75012 Dandy-Walker Malformation semapv:UnspecifiedMatching MONDO:0009072 Dandy-Walker syndrome skos:exactMatch OMIM:220200 dandy-walker syndrome semapv:UnspecifiedMatching MONDO:0009072 Dandy-Walker syndrome skos:exactMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:UnspecifiedMatching MONDO:0009072 Dandy-Walker syndrome skos:exactMatch SCTID:14447001 semapv:UnspecifiedMatching MONDO:0009072 Dandy-Walker syndrome skos:exactMatch UMLS:C0010964 semapv:UnspecifiedMatching MONDO:0009072 Dandy-Walker syndrome skos:exactMatch mesh:D003616 semapv:UnspecifiedMatching MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:exactMatch DOID:0060571 Ritscher-Schinzel syndrome 1 semapv:UnspecifiedMatching MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:exactMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:UnspecifiedMatching MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:exactMatch OMIM:220219 dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy semapv:UnspecifiedMatching MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:exactMatch Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:UnspecifiedMatching MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:exactMatch UMLS:C1857352 semapv:UnspecifiedMatching MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:exactMatch mesh:C535985 semapv:UnspecifiedMatching MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:exactMatch OMIM:220220 dandy-walker malformation with postaxial polydactyly semapv:UnspecifiedMatching MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:exactMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:UnspecifiedMatching MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:exactMatch SCTID:733094005 semapv:UnspecifiedMatching MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:exactMatch UMLS:C1857351 semapv:UnspecifiedMatching MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:exactMatch mesh:C535771 semapv:UnspecifiedMatching MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:exactMatch DOID:0110475 autosomal recessive nonsyndromic deafness 1A semapv:UnspecifiedMatching MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:exactMatch NCIT:C129022 Deafness, Autosomal Recessive 1A semapv:UnspecifiedMatching MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:exactMatch OMIM:220290 deafness, autosomal recessive 1a semapv:UnspecifiedMatching MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:exactMatch mesh:C567134 semapv:UnspecifiedMatching MONDO:0009077 deafness, congenital, and familial myoclonic epilepsy skos:exactMatch OMIM:220300 deafness, congenital, and familial myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0009077 deafness, congenital, and familial myoclonic epilepsy skos:exactMatch UMLS:C1857348 semapv:UnspecifiedMatching MONDO:0009077 deafness, congenital, and familial myoclonic epilepsy skos:exactMatch mesh:C565649 semapv:UnspecifiedMatching MONDO:0009079 DOORS syndrome skos:exactMatch DOID:0111627 DOORS syndrome semapv:UnspecifiedMatching MONDO:0009079 DOORS syndrome skos:exactMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:UnspecifiedMatching MONDO:0009079 DOORS syndrome skos:exactMatch Orphanet:79500 DOORS syndrome semapv:UnspecifiedMatching MONDO:0009079 DOORS syndrome skos:exactMatch SCTID:719800009 semapv:UnspecifiedMatching MONDO:0009079 DOORS syndrome skos:exactMatch mesh:C563052 semapv:UnspecifiedMatching MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:exactMatch DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss semapv:UnspecifiedMatching MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:exactMatch OMIM:220600 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive semapv:UnspecifiedMatching MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:exactMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:UnspecifiedMatching MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:exactMatch SCTID:723611008 semapv:UnspecifiedMatching MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:exactMatch UMLS:C1857344 semapv:UnspecifiedMatching MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:exactMatch mesh:C565647 semapv:UnspecifiedMatching MONDO:0009081 deafness, congenital, with total albinism skos:exactMatch OMIM:220900 deafness, congenital, with total albinism semapv:UnspecifiedMatching MONDO:0009081 deafness, congenital, with total albinism skos:exactMatch UMLS:C1857343 semapv:UnspecifiedMatching MONDO:0009081 deafness, congenital, with total albinism skos:exactMatch mesh:C565646 semapv:UnspecifiedMatching MONDO:0009082 high myopia-sensorineural deafness syndrome skos:exactMatch DOID:0111628 high myopia-sensorineural deafness syndrome semapv:UnspecifiedMatching MONDO:0009082 high myopia-sensorineural deafness syndrome skos:exactMatch OMIM:221200 deafness and myopia semapv:UnspecifiedMatching MONDO:0009082 high myopia-sensorineural deafness syndrome skos:exactMatch Orphanet:363396 High myopia-sensorineural deafness syndrome semapv:UnspecifiedMatching MONDO:0009082 high myopia-sensorineural deafness syndrome skos:exactMatch SCTID:720506002 semapv:UnspecifiedMatching MONDO:0009082 high myopia-sensorineural deafness syndrome skos:exactMatch UMLS:C3806275 semapv:UnspecifiedMatching MONDO:0009083 conductive deafness-malformed external ear syndrome skos:exactMatch OMIM:221300 deafness, conductive, with malformed external ear semapv:UnspecifiedMatching MONDO:0009083 conductive deafness-malformed external ear syndrome skos:exactMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:UnspecifiedMatching MONDO:0009083 conductive deafness-malformed external ear syndrome skos:exactMatch UMLS:C1857341 semapv:UnspecifiedMatching MONDO:0009083 conductive deafness-malformed external ear syndrome skos:exactMatch mesh:C565644 semapv:UnspecifiedMatching MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:exactMatch OMIM:221320 deafness, conductive, with ptosis and skeletal anomalies semapv:UnspecifiedMatching MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:exactMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:UnspecifiedMatching MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:exactMatch SCTID:763213001 semapv:UnspecifiedMatching MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:exactMatch UMLS:C1857340 semapv:UnspecifiedMatching MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:exactMatch mesh:C535993 semapv:UnspecifiedMatching MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:exactMatch OMIM:221350 deafness, congenital, with vitiligo and achalasia semapv:UnspecifiedMatching MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:exactMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:UnspecifiedMatching MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:exactMatch UMLS:C1857339 semapv:UnspecifiedMatching MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:exactMatch mesh:C565642 semapv:UnspecifiedMatching MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:exactMatch OMIM:221400 deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy semapv:UnspecifiedMatching MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:exactMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:UnspecifiedMatching MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:exactMatch SCTID:733071009 semapv:UnspecifiedMatching MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:exactMatch UMLS:C1857338 semapv:UnspecifiedMatching MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:exactMatch mesh:C537305 semapv:UnspecifiedMatching MONDO:0009087 deafness, neural, congenital moderate skos:exactMatch OMIM:221500 deafness, neural, congenital moderate semapv:UnspecifiedMatching MONDO:0009087 deafness, neural, congenital moderate skos:exactMatch UMLS:C1857337 semapv:UnspecifiedMatching MONDO:0009087 deafness, neural, congenital moderate skos:exactMatch mesh:C565640 semapv:UnspecifiedMatching MONDO:0009088 deafness, neural, with atypical atopic dermatitis skos:exactMatch OMIM:221700 deafness, neural, with atypical atopic dermatitis semapv:UnspecifiedMatching MONDO:0009088 deafness, neural, with atypical atopic dermatitis skos:exactMatch UMLS:C1857334 semapv:UnspecifiedMatching MONDO:0009088 deafness, neural, with atypical atopic dermatitis skos:exactMatch mesh:C565639 semapv:UnspecifiedMatching MONDO:0009089 deafness-oligodontia syndrome skos:exactMatch OMIM:221740 deafness-oligodontia syndrome semapv:UnspecifiedMatching MONDO:0009089 deafness-oligodontia syndrome skos:exactMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:UnspecifiedMatching MONDO:0009089 deafness-oligodontia syndrome skos:exactMatch UMLS:C1857333 semapv:UnspecifiedMatching MONDO:0009089 deafness-oligodontia syndrome skos:exactMatch mesh:C538049 semapv:UnspecifiedMatching MONDO:0009090 hearing loss, sensorineural, autosomal-mitochondrial type skos:exactMatch DOID:0111752 autosomal-mitochondrial sensorineural deafness semapv:UnspecifiedMatching MONDO:0009090 hearing loss, sensorineural, autosomal-mitochondrial type skos:exactMatch OMIM:221745 deafness, sensorineural, autosomal-mitochondrial iia semapv:UnspecifiedMatching MONDO:0009090 hearing loss, sensorineural, autosomal-mitochondrial type skos:exactMatch mesh:C565637 semapv:UnspecifiedMatching MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:exactMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:UnspecifiedMatching MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:exactMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:UnspecifiedMatching MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:exactMatch UMLS:C3489787 semapv:UnspecifiedMatching MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:exactMatch mesh:C536710 semapv:UnspecifiedMatching MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch DOID:0090112 Nasu-Hakola disease semapv:UnspecifiedMatching MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch OMIMPS:221770 semapv:UnspecifiedMatching MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch Orphanet:2770 Nasu-Hakola disease semapv:UnspecifiedMatching MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch SCTID:702347001 semapv:UnspecifiedMatching MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch UMLS:C1857316 semapv:UnspecifiedMatching MONDO:0009093 dermatoleukodystrophy skos:exactMatch OMIM:221790 dermatoleukodystrophy semapv:UnspecifiedMatching MONDO:0009093 dermatoleukodystrophy skos:exactMatch Orphanet:1659 Dermatoleukodystrophy semapv:UnspecifiedMatching MONDO:0009093 dermatoleukodystrophy skos:exactMatch SCTID:733044009 semapv:UnspecifiedMatching MONDO:0009093 dermatoleukodystrophy skos:exactMatch UMLS:C1857314 semapv:UnspecifiedMatching MONDO:0009093 dermatoleukodystrophy skos:exactMatch mesh:C538220 semapv:UnspecifiedMatching MONDO:0009094 dermochondrocorneal dystrophy skos:exactMatch OMIM:221800 dermochondrocorneal dystrophy semapv:UnspecifiedMatching MONDO:0009094 dermochondrocorneal dystrophy skos:exactMatch Orphanet:79149 Dermochondrocorneal dystrophy semapv:UnspecifiedMatching MONDO:0009094 dermochondrocorneal dystrophy skos:exactMatch SCTID:254150007 semapv:UnspecifiedMatching MONDO:0009094 dermochondrocorneal dystrophy skos:exactMatch UMLS:C0432288 semapv:UnspecifiedMatching MONDO:0009094 dermochondrocorneal dystrophy skos:exactMatch mesh:C535375 semapv:UnspecifiedMatching MONDO:0009095 dermatoosteolysis, Kirghizian type skos:exactMatch OMIM:221810 dermatoosteolysis, kirghizian iia semapv:UnspecifiedMatching MONDO:0009095 dermatoosteolysis, Kirghizian type skos:exactMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:UnspecifiedMatching MONDO:0009095 dermatoosteolysis, Kirghizian type skos:exactMatch SCTID:721090002 semapv:UnspecifiedMatching MONDO:0009095 dermatoosteolysis, Kirghizian type skos:exactMatch UMLS:C1857301 semapv:UnspecifiedMatching MONDO:0009095 dermatoosteolysis, Kirghizian type skos:exactMatch mesh:C535373 semapv:UnspecifiedMatching MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:exactMatch OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive semapv:UnspecifiedMatching MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:exactMatch UMLS:C1969783 semapv:UnspecifiedMatching MONDO:0009098 dextrocardia with unusual facies and microphthalmia skos:exactMatch OMIM:221950 dextrocardia with unusual facies and microphthalmia semapv:UnspecifiedMatching MONDO:0009098 dextrocardia with unusual facies and microphthalmia skos:exactMatch UMLS:C1857298 semapv:UnspecifiedMatching MONDO:0009098 dextrocardia with unusual facies and microphthalmia skos:exactMatch mesh:C538269 semapv:UnspecifiedMatching MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:exactMatch OMIM:221995 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification semapv:UnspecifiedMatching MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:exactMatch Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:exactMatch SCTID:716200002 semapv:UnspecifiedMatching MONDO:0009101 Wolfram syndrome 1 skos:exactMatch DOID:0110629 Wolfram syndrome 1 semapv:UnspecifiedMatching MONDO:0009101 Wolfram syndrome 1 skos:exactMatch OMIM:222300 wolfram syndrome 1 semapv:UnspecifiedMatching MONDO:0009102 diaminopentanuria skos:exactMatch OMIM:222350 diaminopentanuria semapv:UnspecifiedMatching MONDO:0009102 diaminopentanuria skos:exactMatch UMLS:C1857285 semapv:UnspecifiedMatching MONDO:0009102 diaminopentanuria skos:exactMatch mesh:C565630 semapv:UnspecifiedMatching MONDO:0009103 diaphragmatic hernia 2 skos:exactMatch OMIM:222400 diaphragmatic hernia 2 semapv:UnspecifiedMatching MONDO:0009103 diaphragmatic hernia 2 skos:exactMatch mesh:C565629 semapv:UnspecifiedMatching MONDO:0009104 Donnai-Barrow syndrome skos:exactMatch DOID:0090144 Donnai-Barrow syndrome semapv:UnspecifiedMatching MONDO:0009104 Donnai-Barrow syndrome skos:exactMatch OMIM:222448 donnai-barrow syndrome semapv:UnspecifiedMatching MONDO:0009104 Donnai-Barrow syndrome skos:exactMatch Orphanet:2143 Donnai-Barrow syndrome semapv:UnspecifiedMatching MONDO:0009104 Donnai-Barrow syndrome skos:exactMatch SCTID:702418009 semapv:UnspecifiedMatching MONDO:0009104 Donnai-Barrow syndrome skos:exactMatch UMLS:C1857277 semapv:UnspecifiedMatching MONDO:0009104 Donnai-Barrow syndrome skos:exactMatch mesh:C536390 semapv:UnspecifiedMatching MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch DOID:0111414 trichohepatoenteric syndrome semapv:UnspecifiedMatching MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch OMIMPS:222470 semapv:UnspecifiedMatching MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch Orphanet:84064 Syndromic diarrhea semapv:UnspecifiedMatching MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch SCTID:703406006 semapv:UnspecifiedMatching MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch UMLS:C1857276 semapv:UnspecifiedMatching MONDO:0009106 diastematomyelia skos:exactMatch ICD10CM:Q06.2 Diastematomyelia semapv:UnspecifiedMatching MONDO:0009106 diastematomyelia skos:exactMatch NCIT:C98913 Diastematomyelia semapv:UnspecifiedMatching MONDO:0009106 diastematomyelia skos:exactMatch OMIM:222500 diastematomyelia semapv:UnspecifiedMatching MONDO:0009106 diastematomyelia skos:exactMatch Orphanet:1671 Split cord malformation type I semapv:UnspecifiedMatching MONDO:0009106 diastematomyelia skos:exactMatch SCTID:49351009 semapv:UnspecifiedMatching MONDO:0009106 diastematomyelia skos:exactMatch UMLS:C0011999 semapv:UnspecifiedMatching MONDO:0009107 diastrophic dysplasia skos:exactMatch DOID:14687 diastrophic dysplasia semapv:UnspecifiedMatching MONDO:0009107 diastrophic dysplasia skos:exactMatch ICD10CM:Q77.5 Diastrophic dysplasia semapv:UnspecifiedMatching MONDO:0009107 diastrophic dysplasia skos:exactMatch NCIT:C156311 Diastrophic Dysplasia semapv:UnspecifiedMatching MONDO:0009107 diastrophic dysplasia skos:exactMatch OMIM:222600 diastrophic dysplasia semapv:UnspecifiedMatching MONDO:0009107 diastrophic dysplasia skos:exactMatch Orphanet:628 Diastrophic dysplasia semapv:UnspecifiedMatching MONDO:0009107 diastrophic dysplasia skos:exactMatch SCTID:58561002 semapv:UnspecifiedMatching MONDO:0009107 diastrophic dysplasia skos:exactMatch mesh:C536170 semapv:UnspecifiedMatching MONDO:0009108 hyperdibasic aminoaciduria type 1 skos:exactMatch OMIM:222690 dibasic amino aciduria 1 semapv:UnspecifiedMatching MONDO:0009108 hyperdibasic aminoaciduria type 1 skos:exactMatch UMLS:C2673736 semapv:UnspecifiedMatching MONDO:0009108 hyperdibasic aminoaciduria type 1 skos:exactMatch mesh:C567132 semapv:UnspecifiedMatching MONDO:0009109 lysinuric protein intolerance skos:exactMatch DOID:0060439 lysinuric protein intolerance semapv:UnspecifiedMatching MONDO:0009109 lysinuric protein intolerance skos:exactMatch NCIT:C121563 Lysinuric Protein Intolerance semapv:UnspecifiedMatching MONDO:0009109 lysinuric protein intolerance skos:exactMatch OMIM:222700 lysinuric protein intolerance semapv:UnspecifiedMatching MONDO:0009109 lysinuric protein intolerance skos:exactMatch Orphanet:470 Lysinuric protein intolerance semapv:UnspecifiedMatching MONDO:0009109 lysinuric protein intolerance skos:exactMatch SCTID:303852004 semapv:UnspecifiedMatching MONDO:0009109 lysinuric protein intolerance skos:exactMatch UMLS:C0268647 semapv:UnspecifiedMatching MONDO:0009109 lysinuric protein intolerance skos:exactMatch mesh:C562687 semapv:UnspecifiedMatching MONDO:0009110 dicarboxylic aminoaciduria skos:exactMatch DOID:0060650 dicarboxylic aminoaciduria semapv:UnspecifiedMatching MONDO:0009110 dicarboxylic aminoaciduria skos:exactMatch OMIM:222730 dicarboxylic aminoaciduria semapv:UnspecifiedMatching MONDO:0009110 dicarboxylic aminoaciduria skos:exactMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:UnspecifiedMatching MONDO:0009110 dicarboxylic aminoaciduria skos:exactMatch SCTID:716747007 semapv:UnspecifiedMatching MONDO:0009110 dicarboxylic aminoaciduria skos:exactMatch UMLS:C1857253 semapv:UnspecifiedMatching MONDO:0009110 dicarboxylic aminoaciduria skos:exactMatch mesh:C536171 semapv:UnspecifiedMatching MONDO:0009111 dihydropyrimidinuria skos:exactMatch DOID:0111629 dihydropyrimidinase deficiency semapv:UnspecifiedMatching MONDO:0009111 dihydropyrimidinuria skos:exactMatch OMIM:222748 dihydropyrimidinase deficiency semapv:UnspecifiedMatching MONDO:0009111 dihydropyrimidinuria skos:exactMatch Orphanet:38874 Dihydropyrimidinuria semapv:UnspecifiedMatching MONDO:0009111 dihydropyrimidinuria skos:exactMatch SCTID:238014002 semapv:UnspecifiedMatching MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:exactMatch DOID:0110852 rhizomelic chondrodysplasia punctata type 2 semapv:UnspecifiedMatching MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:exactMatch OMIM:222765 rhizomelic chondrodysplasia punctata, iia 2 semapv:UnspecifiedMatching MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:exactMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:UnspecifiedMatching MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:exactMatch UMLS:C1857242 semapv:UnspecifiedMatching MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:exactMatch mesh:C537607 semapv:UnspecifiedMatching MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:exactMatch DOID:0111630 familial erythrocytosis 8 semapv:UnspecifiedMatching MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:exactMatch NCIT:C131638 Bisphosphoglycerate Mutase Deficiency semapv:UnspecifiedMatching MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:exactMatch OMIM:222800 erythrocytosis, familial, 8 semapv:UnspecifiedMatching MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:exactMatch Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency semapv:UnspecifiedMatching MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:exactMatch UMLS:C1291620 semapv:UnspecifiedMatching MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch DOID:0111633 congenital sucrase-isomaltase deficiency semapv:UnspecifiedMatching MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch NCIT:C128190 Congenital Sucrase-Isomaltase Deficiency semapv:UnspecifiedMatching MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:UnspecifiedMatching MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:UnspecifiedMatching MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch SCTID:78373000 semapv:UnspecifiedMatching MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch mesh:C538139 semapv:UnspecifiedMatching MONDO:0009115 congenital lactase deficiency skos:exactMatch DOID:0111646 congenital lactase deficiency semapv:UnspecifiedMatching MONDO:0009115 congenital lactase deficiency skos:exactMatch ICD10CM:E73.0 Congenital lactase deficiency semapv:UnspecifiedMatching MONDO:0009115 congenital lactase deficiency skos:exactMatch OMIM:223000 lactase deficiency, congenital semapv:UnspecifiedMatching MONDO:0009115 congenital lactase deficiency skos:exactMatch Orphanet:53690 Congenital lactase deficiency semapv:UnspecifiedMatching MONDO:0009115 congenital lactase deficiency skos:exactMatch SCTID:5388008 semapv:UnspecifiedMatching MONDO:0009115 congenital lactase deficiency skos:exactMatch mesh:C562600 semapv:UnspecifiedMatching MONDO:0009117 obsolete disorganization, mouse, homolog of skos:exactMatch OMIM:223200 disorganization, mouse, homolog of semapv:UnspecifiedMatching MONDO:0009117 obsolete disorganization, mouse, homolog of skos:exactMatch UMLS:C1857230 semapv:UnspecifiedMatching MONDO:0009118 disseminated sclerosis with narcolepsy skos:exactMatch OMIM:223300 disseminated sclerosis with narcolepsy semapv:UnspecifiedMatching MONDO:0009118 disseminated sclerosis with narcolepsy skos:exactMatch UMLS:C1857229 semapv:UnspecifiedMatching MONDO:0009118 disseminated sclerosis with narcolepsy skos:exactMatch mesh:C565621 semapv:UnspecifiedMatching MONDO:0009119 diverticulosis, small-intestinal skos:exactMatch OMIM:223320 diverticulosis, small-intestinal semapv:UnspecifiedMatching MONDO:0009119 diverticulosis, small-intestinal skos:exactMatch UMLS:C1857228 semapv:UnspecifiedMatching MONDO:0009119 diverticulosis, small-intestinal skos:exactMatch mesh:C565620 semapv:UnspecifiedMatching MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:exactMatch OMIM:223330 diverticulosis of bowel, hernia, and retinal detachment semapv:UnspecifiedMatching MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:exactMatch Orphanet:2464 Marfanoid syndrome, De Silva type semapv:UnspecifiedMatching MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:exactMatch UMLS:C1857227 semapv:UnspecifiedMatching MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:exactMatch mesh:C565619 semapv:UnspecifiedMatching MONDO:0009121 von Voss-Cherstvoy syndrome skos:exactMatch OMIM:223340 dk phocomelia syndrome semapv:UnspecifiedMatching MONDO:0009121 von Voss-Cherstvoy syndrome skos:exactMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:UnspecifiedMatching MONDO:0009121 von Voss-Cherstvoy syndrome skos:exactMatch SCTID:719021005 semapv:UnspecifiedMatching MONDO:0009121 von Voss-Cherstvoy syndrome skos:exactMatch UMLS:C1857226 semapv:UnspecifiedMatching MONDO:0009121 von Voss-Cherstvoy syndrome skos:exactMatch mesh:C565618 semapv:UnspecifiedMatching MONDO:0009122 Dohle bodies and leukemia skos:exactMatch OMIM:223350 dohle bodies and leukemia semapv:UnspecifiedMatching MONDO:0009122 Dohle bodies and leukemia skos:exactMatch UMLS:C1857225 semapv:UnspecifiedMatching MONDO:0009122 Dohle bodies and leukemia skos:exactMatch mesh:C565617 semapv:UnspecifiedMatching MONDO:0009123 orthostatic hypotension 1 skos:exactMatch DOID:0090145 dopamine beta-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0009123 orthostatic hypotension 1 skos:exactMatch OMIM:223360 orthostatic hypotension 1 semapv:UnspecifiedMatching MONDO:0009123 orthostatic hypotension 1 skos:exactMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0009123 orthostatic hypotension 1 skos:exactMatch SCTID:237923004 semapv:UnspecifiedMatching MONDO:0009123 orthostatic hypotension 1 skos:exactMatch UMLS:C4746777 semapv:UnspecifiedMatching MONDO:0009123 orthostatic hypotension 1 skos:exactMatch mesh:C535600 semapv:UnspecifiedMatching MONDO:0009124 Dubowitz syndrome skos:exactMatch DOID:14796 Dubowitz syndrome semapv:UnspecifiedMatching MONDO:0009124 Dubowitz syndrome skos:exactMatch NCIT:C125591 Dubowitz Syndrome semapv:UnspecifiedMatching MONDO:0009124 Dubowitz syndrome skos:exactMatch OMIM:223370 dubowitz syndrome semapv:UnspecifiedMatching MONDO:0009124 Dubowitz syndrome skos:exactMatch Orphanet:235 Dubowitz syndrome semapv:UnspecifiedMatching MONDO:0009124 Dubowitz syndrome skos:exactMatch SCTID:2593002 semapv:UnspecifiedMatching MONDO:0009124 Dubowitz syndrome skos:exactMatch UMLS:C0175691 semapv:UnspecifiedMatching MONDO:0009124 Dubowitz syndrome skos:exactMatch mesh:C535718 semapv:UnspecifiedMatching MONDO:0009125 obsolete dopamine beta-hydroxylase, plasma, thermolability of skos:exactMatch OMIM:223380 dopamine beta-hydroxylase, plasma, thermolability of semapv:UnspecifiedMatching MONDO:0009126 duodenal atresia skos:exactMatch DOID:0080216 duodenal atresia semapv:UnspecifiedMatching MONDO:0009126 duodenal atresia skos:exactMatch NCIT:C101025 Duodenal Atresia semapv:UnspecifiedMatching MONDO:0009126 duodenal atresia skos:exactMatch OMIM:223400 duodenal atresia semapv:UnspecifiedMatching MONDO:0009126 duodenal atresia skos:exactMatch Orphanet:1203 Duodenal atresia semapv:UnspecifiedMatching MONDO:0009126 duodenal atresia skos:exactMatch SCTID:51118003 semapv:UnspecifiedMatching MONDO:0009126 duodenal atresia skos:exactMatch UMLS:C0266174 semapv:UnspecifiedMatching MONDO:0009126 duodenal atresia skos:exactMatch mesh:C535720 semapv:UnspecifiedMatching MONDO:0009127 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone skos:exactMatch OMIM:223500 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone semapv:UnspecifiedMatching MONDO:0009127 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone skos:exactMatch UMLS:C1857197 semapv:UnspecifiedMatching MONDO:0009127 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone skos:exactMatch mesh:C565615 semapv:UnspecifiedMatching MONDO:0009128 dwarfism, intellectual disability, and eye abnormality skos:exactMatch OMIM:223540 dwarfism, mental retardation, and eye abnormality semapv:UnspecifiedMatching MONDO:0009128 dwarfism, intellectual disability, and eye abnormality skos:exactMatch UMLS:C0796076 semapv:UnspecifiedMatching MONDO:0009128 dwarfism, intellectual disability, and eye abnormality skos:exactMatch mesh:C535809 semapv:UnspecifiedMatching MONDO:0009129 dwarfism, proportionate, with hip dislocation skos:exactMatch OMIM:223550 dwarfism, proportionate, with hip dislocation semapv:UnspecifiedMatching MONDO:0009129 dwarfism, proportionate, with hip dislocation skos:exactMatch UMLS:C1857196 semapv:UnspecifiedMatching MONDO:0009129 dwarfism, proportionate, with hip dislocation skos:exactMatch mesh:C565614 semapv:UnspecifiedMatching MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch DOID:0111167 Dyggve-Melchior-Clausen disease semapv:UnspecifiedMatching MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch NCIT:C124844 Dyggve-Melchior-Clausen Syndrome semapv:UnspecifiedMatching MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch OMIM:223800 dyggve-melchior-clausen disease semapv:UnspecifiedMatching MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:UnspecifiedMatching MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch SCTID:82699004 semapv:UnspecifiedMatching MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch UMLS:C0265286 semapv:UnspecifiedMatching MONDO:0009131 Riley-Day syndrome skos:exactMatch DOID:11589 Riley-Day syndrome semapv:UnspecifiedMatching MONDO:0009131 Riley-Day syndrome skos:exactMatch NCIT:C84706 Familial Dysautonomia semapv:UnspecifiedMatching MONDO:0009131 Riley-Day syndrome skos:exactMatch OMIM:223900 neuropathy, hereditary sensory and autonomic, iia 3 semapv:UnspecifiedMatching MONDO:0009131 Riley-Day syndrome skos:exactMatch Orphanet:1764 Familial dysautonomia semapv:UnspecifiedMatching MONDO:0009131 Riley-Day syndrome skos:exactMatch SCTID:29159009 semapv:UnspecifiedMatching MONDO:0009131 Riley-Day syndrome skos:exactMatch UMLS:C0013364 semapv:UnspecifiedMatching MONDO:0009131 Riley-Day syndrome skos:exactMatch mesh:D004402 semapv:UnspecifiedMatching MONDO:0009132 dysautonomia-like disorder skos:exactMatch OMIM:224000 dysautonomia-like disorder semapv:UnspecifiedMatching MONDO:0009132 dysautonomia-like disorder skos:exactMatch UMLS:C1857153 semapv:UnspecifiedMatching MONDO:0009132 dysautonomia-like disorder skos:exactMatch mesh:C535728 semapv:UnspecifiedMatching MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome semapv:UnspecifiedMatching MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch NCIT:C114781 Dialysis Disequilibrium Syndrome semapv:UnspecifiedMatching MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch OMIMPS:224050 semapv:UnspecifiedMatching MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch Orphanet:1766 Dysequilibrium syndrome semapv:UnspecifiedMatching MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch SCTID:230782004 semapv:UnspecifiedMatching MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch mesh:C535731 semapv:UnspecifiedMatching MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch DOID:0111401 congenital dyserythropoietic anemia type II semapv:UnspecifiedMatching MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch OMIM:224100 anemia, congenital dyserythropoietic, iia 2 semapv:UnspecifiedMatching MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:UnspecifiedMatching MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch SCTID:68870007 semapv:UnspecifiedMatching MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:exactMatch DOID:0111398 congenital dyserythropoietic anemia type Ia semapv:UnspecifiedMatching MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:exactMatch OMIM:224120 anemia, congenital dyserythropoietic, iia ia semapv:UnspecifiedMatching MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch DOID:0070015 autosomal recessive dyskeratosis congenita 1 semapv:UnspecifiedMatching MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch NCIT:C176925 Dyskeratosis Congenita, Autosomal Recessive 1 semapv:UnspecifiedMatching MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch OMIM:224230 dyskeratosis congenita, autosomal recessive 1 semapv:UnspecifiedMatching MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch SCTID:707272006 semapv:UnspecifiedMatching MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch UMLS:C1857144 semapv:UnspecifiedMatching MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch mesh:C565611 semapv:UnspecifiedMatching MONDO:0009137 dysmyelination with jaundice skos:exactMatch OMIM:224250 dysmyelination with jaundice semapv:UnspecifiedMatching MONDO:0009137 dysmyelination with jaundice skos:exactMatch UMLS:C1857143 semapv:UnspecifiedMatching MONDO:0009137 dysmyelination with jaundice skos:exactMatch mesh:C565610 semapv:UnspecifiedMatching MONDO:0009138 dysosteosclerosis skos:exactMatch OMIM:224300 dysosteosclerosis semapv:UnspecifiedMatching MONDO:0009138 dysosteosclerosis skos:exactMatch Orphanet:1782 Dysosteosclerosis semapv:UnspecifiedMatching MONDO:0009138 dysosteosclerosis skos:exactMatch SCTID:254123002 semapv:UnspecifiedMatching MONDO:0009138 dysosteosclerosis skos:exactMatch UMLS:C0432262 semapv:UnspecifiedMatching MONDO:0009138 dysosteosclerosis skos:exactMatch mesh:C562973 semapv:UnspecifiedMatching MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:exactMatch OMIM:224400 dyssegmental dysplasia, rolland-desbuquois iia semapv:UnspecifiedMatching MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:exactMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:UnspecifiedMatching MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:exactMatch SCTID:95243004 semapv:UnspecifiedMatching MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:exactMatch UMLS:C0432209 semapv:UnspecifiedMatching MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:exactMatch mesh:C537999 semapv:UnspecifiedMatching MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:exactMatch DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia semapv:UnspecifiedMatching MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:exactMatch OMIM:224410 dyssegmental dysplasia, silverman-handmaker iia semapv:UnspecifiedMatching MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:exactMatch Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type semapv:UnspecifiedMatching MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:exactMatch SCTID:93132001 semapv:UnspecifiedMatching MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:exactMatch mesh:C537998 semapv:UnspecifiedMatching MONDO:0009141 torsion dystonia 2 skos:exactMatch DOID:0090038 torsion dystonia 2 semapv:UnspecifiedMatching MONDO:0009141 torsion dystonia 2 skos:exactMatch NCIT:C123415 Autosomal Recessive Torsion Dystonia 2 semapv:UnspecifiedMatching MONDO:0009141 torsion dystonia 2 skos:exactMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:UnspecifiedMatching MONDO:0009141 torsion dystonia 2 skos:exactMatch Orphanet:99657 Primary dystonia, DYT2 type semapv:UnspecifiedMatching MONDO:0009141 torsion dystonia 2 skos:exactMatch UMLS:C1857093 semapv:UnspecifiedMatching MONDO:0009141 torsion dystonia 2 skos:exactMatch mesh:C538006 semapv:UnspecifiedMatching MONDO:0009142 dystonia with Ringbinden skos:exactMatch OMIM:224550 dystonia with ringbinden semapv:UnspecifiedMatching MONDO:0009142 dystonia with Ringbinden skos:exactMatch UMLS:C1857089 semapv:UnspecifiedMatching MONDO:0009142 dystonia with Ringbinden skos:exactMatch mesh:C565608 semapv:UnspecifiedMatching MONDO:0009143 Meier-Gorlin syndrome 1 skos:exactMatch DOID:0080512 Meier-Gorlin syndrome 1 semapv:UnspecifiedMatching MONDO:0009143 Meier-Gorlin syndrome 1 skos:exactMatch OMIM:224690 meier-gorlin syndrome 1 semapv:UnspecifiedMatching MONDO:0009143 Meier-Gorlin syndrome 1 skos:exactMatch SCTID:703508009 semapv:UnspecifiedMatching MONDO:0009143 Meier-Gorlin syndrome 1 skos:exactMatch UMLS:C4552001 semapv:UnspecifiedMatching MONDO:0009144 Ebstein anomaly skos:exactMatch DOID:14289 Ebstein anomaly semapv:UnspecifiedMatching MONDO:0009144 Ebstein anomaly skos:exactMatch NCIT:C84681 Ebstein Anomaly semapv:UnspecifiedMatching MONDO:0009144 Ebstein anomaly skos:exactMatch OMIM:224700 ebstein anomaly semapv:UnspecifiedMatching MONDO:0009144 Ebstein anomaly skos:exactMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:UnspecifiedMatching MONDO:0009144 Ebstein anomaly skos:exactMatch UMLS:C0013481 semapv:UnspecifiedMatching MONDO:0009144 Ebstein anomaly skos:exactMatch mesh:D004437 semapv:UnspecifiedMatching MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:exactMatch DOID:0111647 Schopf-Schulz-Passarge syndrome semapv:UnspecifiedMatching MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:exactMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:UnspecifiedMatching MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:exactMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:UnspecifiedMatching MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:exactMatch SCTID:700062000 semapv:UnspecifiedMatching MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:exactMatch UMLS:C1857069 semapv:UnspecifiedMatching MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:exactMatch mesh:C565607 semapv:UnspecifiedMatching MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:exactMatch OMIM:224800 ectodermal dysplasia and neurosensory deafness semapv:UnspecifiedMatching MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:exactMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:UnspecifiedMatching MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:exactMatch UMLS:C1857068 semapv:UnspecifiedMatching MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:exactMatch mesh:C535757 semapv:UnspecifiedMatching MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:exactMatch mesh:C565606 semapv:UnspecifiedMatching MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:exactMatch DOID:0111665 ectodermal dysplasia 10B semapv:UnspecifiedMatching MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:exactMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:UnspecifiedMatching MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:exactMatch UMLS:C3887494 semapv:UnspecifiedMatching MONDO:0009148 Rosselli-Gulienetti syndrome skos:exactMatch OMIM:225000 rosselli-gulienetti syndrome semapv:UnspecifiedMatching MONDO:0009148 Rosselli-Gulienetti syndrome skos:exactMatch UMLS:C0796139 semapv:UnspecifiedMatching MONDO:0009148 Rosselli-Gulienetti syndrome skos:exactMatch mesh:C563117 semapv:UnspecifiedMatching MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:exactMatch OMIM:225040 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum semapv:UnspecifiedMatching MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:exactMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:UnspecifiedMatching MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:exactMatch UMLS:C1857053 semapv:UnspecifiedMatching MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:exactMatch mesh:C565605 semapv:UnspecifiedMatching MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:exactMatch OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia semapv:UnspecifiedMatching MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:exactMatch Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome semapv:UnspecifiedMatching MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:exactMatch SCTID:239050000 semapv:UnspecifiedMatching MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:exactMatch mesh:C565604 semapv:UnspecifiedMatching MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch NCIT:C122656 Cleft Lip/Palate-Ectodermal Dysplasia Syndrome semapv:UnspecifiedMatching MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch SCTID:716248001 semapv:UnspecifiedMatching MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch UMLS:C2931488 semapv:UnspecifiedMatching MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive skos:exactMatch DOID:0111149 autosomal recessive isolated ectopia lentis 2 semapv:UnspecifiedMatching MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive skos:exactMatch OMIM:225100 ectopia lentis 2, isolated, autosomal recessive semapv:UnspecifiedMatching MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive skos:exactMatch UMLS:C3541474 semapv:UnspecifiedMatching MONDO:0009153 ectopia lentis et pupillae skos:exactMatch DOID:0111648 ectopia lentis with ectopia of pupil semapv:UnspecifiedMatching MONDO:0009153 ectopia lentis et pupillae skos:exactMatch OMIM:225200 ectopia lentis et pupillae semapv:UnspecifiedMatching MONDO:0009153 ectopia lentis et pupillae skos:exactMatch SCTID:419237004 semapv:UnspecifiedMatching MONDO:0009153 ectopia lentis et pupillae skos:exactMatch UMLS:C1644196 semapv:UnspecifiedMatching MONDO:0009153 ectopia lentis et pupillae skos:exactMatch mesh:C563268 semapv:UnspecifiedMatching MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:exactMatch DOID:0070125 congenital nongoitrous hypothyroidism 5 semapv:UnspecifiedMatching MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:exactMatch OMIM:225250 hypothyroidism, congenital, nongoitrous, 5 semapv:UnspecifiedMatching MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:exactMatch UMLS:C2673630 semapv:UnspecifiedMatching MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:exactMatch mesh:C567123 semapv:UnspecifiedMatching MONDO:0009155 EEM syndrome skos:exactMatch DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome semapv:UnspecifiedMatching MONDO:0009155 EEM syndrome skos:exactMatch OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome semapv:UnspecifiedMatching MONDO:0009155 EEM syndrome skos:exactMatch Orphanet:1897 EEM syndrome semapv:UnspecifiedMatching MONDO:0009155 EEM syndrome skos:exactMatch SCTID:720856002 semapv:UnspecifiedMatching MONDO:0009155 EEM syndrome skos:exactMatch mesh:C536190 semapv:UnspecifiedMatching MONDO:0009156 ectrodactyly-polydactyly syndrome skos:exactMatch OMIM:225290 ectrodactyly-polydactyly semapv:UnspecifiedMatching MONDO:0009156 ectrodactyly-polydactyly syndrome skos:exactMatch Orphanet:1892 Ectrodactyly-polydactyly syndrome semapv:UnspecifiedMatching MONDO:0009156 ectrodactyly-polydactyly syndrome skos:exactMatch UMLS:C1857040 semapv:UnspecifiedMatching MONDO:0009156 ectrodactyly-polydactyly syndrome skos:exactMatch mesh:C565601 semapv:UnspecifiedMatching MONDO:0009157 split hand-foot malformation 6 skos:exactMatch DOID:0090026 split hand-foot malformation 6 semapv:UnspecifiedMatching MONDO:0009157 split hand-foot malformation 6 skos:exactMatch OMIM:225300 split-hand/foot malformation 6 semapv:UnspecifiedMatching MONDO:0009157 split hand-foot malformation 6 skos:exactMatch UMLS:C2749665 semapv:UnspecifiedMatching MONDO:0009157 split hand-foot malformation 6 skos:exactMatch mesh:C567616 semapv:UnspecifiedMatching MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type skos:exactMatch OMIM:225310 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality semapv:UnspecifiedMatching MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type skos:exactMatch SCTID:83586000 semapv:UnspecifiedMatching MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type skos:exactMatch mesh:C565600 semapv:UnspecifiedMatching MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:exactMatch DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type semapv:UnspecifiedMatching MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:exactMatch OMIM:225320 ehlers-danlos syndrome, cardiac valvular iia semapv:UnspecifiedMatching MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:exactMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:exactMatch SCTID:720858001 semapv:UnspecifiedMatching MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:exactMatch mesh:C536200 semapv:UnspecifiedMatching MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type semapv:UnspecifiedMatching MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch OMIM:225410 ehlers-danlos syndrome, dermatosparaxis iia semapv:UnspecifiedMatching MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch SCTID:55711009 semapv:UnspecifiedMatching MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch mesh:C567527 semapv:UnspecifiedMatching MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch DOID:12714 Ellis-Van Creveld syndrome semapv:UnspecifiedMatching MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch NCIT:C84684 Ellis-Van Creveld Syndrome semapv:UnspecifiedMatching MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch OMIM:225500 ellis-van creveld syndrome semapv:UnspecifiedMatching MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch Orphanet:289 Ellis Van Creveld syndrome semapv:UnspecifiedMatching MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch SCTID:62501005 semapv:UnspecifiedMatching MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch UMLS:C0013903 semapv:UnspecifiedMatching MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch mesh:D004613 semapv:UnspecifiedMatching MONDO:0009163 encephalomalacia, multilocular skos:exactMatch OMIM:225700 encephalomalacia, multilocular semapv:UnspecifiedMatching MONDO:0009163 encephalomalacia, multilocular skos:exactMatch UMLS:C1856991 semapv:UnspecifiedMatching MONDO:0009163 encephalomalacia, multilocular skos:exactMatch mesh:C565597 semapv:UnspecifiedMatching MONDO:0009164 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts skos:exactMatch OMIM:225740 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts semapv:UnspecifiedMatching MONDO:0009164 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts skos:exactMatch UMLS:C1856990 semapv:UnspecifiedMatching MONDO:0009164 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts skos:exactMatch mesh:C565596 semapv:UnspecifiedMatching MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:exactMatch NCIT:C165501 Aicardi-Goutieres Syndrome 1 semapv:UnspecifiedMatching MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:exactMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:UnspecifiedMatching MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:exactMatch UMLS:C0796126 semapv:UnspecifiedMatching MONDO:0009166 pontocerebellar hypoplasia type 4 skos:exactMatch DOID:0060273 pontocerebellar hypoplasia type 4 semapv:UnspecifiedMatching MONDO:0009166 pontocerebellar hypoplasia type 4 skos:exactMatch OMIM:225753 pontocerebellar hypoplasia, iia 4 semapv:UnspecifiedMatching MONDO:0009166 pontocerebellar hypoplasia type 4 skos:exactMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:UnspecifiedMatching MONDO:0009166 pontocerebellar hypoplasia type 4 skos:exactMatch SCTID:718608006 semapv:UnspecifiedMatching MONDO:0009166 pontocerebellar hypoplasia type 4 skos:exactMatch UMLS:C1856974 semapv:UnspecifiedMatching MONDO:0009166 pontocerebellar hypoplasia type 4 skos:exactMatch mesh:C536716 semapv:UnspecifiedMatching MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:exactMatch OMIM:225755 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration semapv:UnspecifiedMatching MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:exactMatch Orphanet:1261 Bonnemann-Meinecke-Reich syndrome semapv:UnspecifiedMatching MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:exactMatch SCTID:733049004 semapv:UnspecifiedMatching MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:exactMatch UMLS:C1856973 semapv:UnspecifiedMatching MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:exactMatch mesh:C565594 semapv:UnspecifiedMatching MONDO:0009168 Fowler syndrome skos:exactMatch DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome semapv:UnspecifiedMatching MONDO:0009168 Fowler syndrome skos:exactMatch OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome semapv:UnspecifiedMatching MONDO:0009168 Fowler syndrome skos:exactMatch Orphanet:221126 Fowler vasculopathy semapv:UnspecifiedMatching MONDO:0009168 Fowler syndrome skos:exactMatch SCTID:700242002 semapv:UnspecifiedMatching MONDO:0009168 Fowler syndrome skos:exactMatch mesh:C565593 semapv:UnspecifiedMatching MONDO:0009169 endocardial fibroelastosis skos:exactMatch DOID:12929 endocardial fibroelastosis semapv:UnspecifiedMatching MONDO:0009169 endocardial fibroelastosis skos:exactMatch ICD10CM:I42.4 Endocardial fibroelastosis semapv:UnspecifiedMatching MONDO:0009169 endocardial fibroelastosis skos:exactMatch NCIT:C98922 Endocardial Fibroelastosis semapv:UnspecifiedMatching MONDO:0009169 endocardial fibroelastosis skos:exactMatch OMIM:226000 endocardial fibroelastosis semapv:UnspecifiedMatching MONDO:0009169 endocardial fibroelastosis skos:exactMatch Orphanet:2022 Endocardial fibroelastosis semapv:UnspecifiedMatching MONDO:0009169 endocardial fibroelastosis skos:exactMatch SCTID:65457005 semapv:UnspecifiedMatching MONDO:0009169 endocardial fibroelastosis skos:exactMatch UMLS:C0014117 semapv:UnspecifiedMatching MONDO:0009169 endocardial fibroelastosis skos:exactMatch mesh:D004695 semapv:UnspecifiedMatching MONDO:0009170 endocardial fibroelastosis and coarctation of abdominal aorta skos:exactMatch OMIM:226100 endocardial fibroelastosis and coarctation of abdominal aorta semapv:UnspecifiedMatching MONDO:0009170 endocardial fibroelastosis and coarctation of abdominal aorta skos:exactMatch UMLS:C1856971 semapv:UnspecifiedMatching MONDO:0009170 endocardial fibroelastosis and coarctation of abdominal aorta skos:exactMatch mesh:C565592 semapv:UnspecifiedMatching MONDO:0009171 endothelial dystrophy, congenital hereditary, with nail hypoplasia skos:exactMatch OMIM:226110 endothelial dystrophy, congenital hereditary, with nail hypoplasia semapv:UnspecifiedMatching MONDO:0009171 endothelial dystrophy, congenital hereditary, with nail hypoplasia skos:exactMatch UMLS:C1856970 semapv:UnspecifiedMatching MONDO:0009171 endothelial dystrophy, congenital hereditary, with nail hypoplasia skos:exactMatch mesh:C565591 semapv:UnspecifiedMatching MONDO:0009172 enterocolitis skos:exactMatch NCIT:C79573 Enterocolitis semapv:UnspecifiedMatching MONDO:0009172 enterocolitis skos:exactMatch OMIM:226150 enterocolitis semapv:UnspecifiedMatching MONDO:0009172 enterocolitis skos:exactMatch SCTID:43752006 semapv:UnspecifiedMatching MONDO:0009172 enterocolitis skos:exactMatch UMLS:C0014356 semapv:UnspecifiedMatching MONDO:0009172 enterocolitis skos:exactMatch mesh:D004760 semapv:UnspecifiedMatching MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:exactMatch DOID:0111667 enterokinase deficiency semapv:UnspecifiedMatching MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:exactMatch OMIM:226200 enterokinase deficiency semapv:UnspecifiedMatching MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:exactMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:UnspecifiedMatching MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:exactMatch SCTID:190952002 semapv:UnspecifiedMatching MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:exactMatch UMLS:C0268416 semapv:UnspecifiedMatching MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:exactMatch mesh:C562649 semapv:UnspecifiedMatching MONDO:0009174 protein-losing enteropathy skos:exactMatch DOID:10611 protein-losing enteropathy semapv:UnspecifiedMatching MONDO:0009174 protein-losing enteropathy skos:exactMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:UnspecifiedMatching MONDO:0009174 protein-losing enteropathy skos:exactMatch Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome semapv:UnspecifiedMatching MONDO:0009174 protein-losing enteropathy skos:exactMatch SCTID:22542007 semapv:UnspecifiedMatching MONDO:0009174 protein-losing enteropathy skos:exactMatch UMLS:C0033680 semapv:UnspecifiedMatching MONDO:0009174 protein-losing enteropathy skos:exactMatch mesh:D011504 semapv:UnspecifiedMatching MONDO:0009175 eosinophilic fasciitis skos:exactMatch NCIT:C112116 Eosinophilic Fasciitis semapv:UnspecifiedMatching MONDO:0009175 eosinophilic fasciitis skos:exactMatch OMIM:226350 eosinophilic fasciitis semapv:UnspecifiedMatching MONDO:0009175 eosinophilic fasciitis skos:exactMatch Orphanet:3165 Eosinophilic fasciitis semapv:UnspecifiedMatching MONDO:0009175 eosinophilic fasciitis skos:exactMatch SCTID:24129002 semapv:UnspecifiedMatching MONDO:0009175 eosinophilic fasciitis skos:exactMatch UMLS:C0264005 semapv:UnspecifiedMatching MONDO:0009175 eosinophilic fasciitis skos:exactMatch mesh:C562487 semapv:UnspecifiedMatching MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch DOID:13777 epidermodysplasia verruciformis semapv:UnspecifiedMatching MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch NCIT:C126877 Epidermodysplasia Verruciformis semapv:UnspecifiedMatching MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch Orphanet:302 Epidermodysplasia verruciformis semapv:UnspecifiedMatching MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch SCTID:19138001 semapv:UnspecifiedMatching MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch UMLS:C0014522 semapv:UnspecifiedMatching MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch mesh:D004819 semapv:UnspecifiedMatching MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:exactMatch OMIM:226440 epidermolysis bullosa, late-onset localized junctional, with mental retardation semapv:UnspecifiedMatching MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:exactMatch Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:exactMatch UMLS:C1856969 semapv:UnspecifiedMatching MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:exactMatch mesh:C535492 semapv:UnspecifiedMatching MONDO:0009178 epidermolysis bullosa dystrophica Neurotrophica skos:exactMatch OMIM:226500 epidermolysis bullosa dystrophica neurotrophica semapv:UnspecifiedMatching MONDO:0009178 epidermolysis bullosa dystrophica Neurotrophica skos:exactMatch SCTID:254176007 semapv:UnspecifiedMatching MONDO:0009178 epidermolysis bullosa dystrophica Neurotrophica skos:exactMatch mesh:C562637 semapv:UnspecifiedMatching MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch DOID:0060642 recessive dystrophic epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:UnspecifiedMatching MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:UnspecifiedMatching MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch SCTID:48528004 semapv:UnspecifiedMatching MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:exactMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:UnspecifiedMatching MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:exactMatch SCTID:33662006 semapv:UnspecifiedMatching MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy semapv:UnspecifiedMatching MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch OMIM:226670 epidermolysis bullosa simplex 5b, with muscular dystrophy semapv:UnspecifiedMatching MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:UnspecifiedMatching MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch SCTID:723308003 semapv:UnspecifiedMatching MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch UMLS:C2931072 semapv:UnspecifiedMatching MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch mesh:C535955 semapv:UnspecifiedMatching MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch DOID:0060737 junctional epidermolysis bullosa Herlitz type semapv:UnspecifiedMatching MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch OMIM:226700 epidermolysis bullosa, junctional 1b, severe semapv:UnspecifiedMatching MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:UnspecifiedMatching MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch SCTID:400140006 semapv:UnspecifiedMatching MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:exactMatch DOID:0060733 junctional epidermolysis bullosa with pyloric atresia semapv:UnspecifiedMatching MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:exactMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:UnspecifiedMatching MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:exactMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:UnspecifiedMatching MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:exactMatch UMLS:C5676875 semapv:UnspecifiedMatching MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:exactMatch mesh:C535377 semapv:UnspecifiedMatching MONDO:0009184 epidermolysis bullosa with diaphragmatic hernia skos:exactMatch OMIM:226735 epidermolysis bullosa with diaphragmatic hernia semapv:UnspecifiedMatching MONDO:0009184 epidermolysis bullosa with diaphragmatic hernia skos:exactMatch mesh:C565588 semapv:UnspecifiedMatching MONDO:0009185 amelocerebrohypohidrotic syndrome skos:exactMatch DOID:0111668 Kohlschutter-Tonz syndrome semapv:UnspecifiedMatching MONDO:0009185 amelocerebrohypohidrotic syndrome skos:exactMatch OMIM:226750 kohlschutter-tonz syndrome semapv:UnspecifiedMatching MONDO:0009185 amelocerebrohypohidrotic syndrome skos:exactMatch Orphanet:1946 Amelocerebrohypohidrotic syndrome semapv:UnspecifiedMatching MONDO:0009185 amelocerebrohypohidrotic syndrome skos:exactMatch SCTID:109478007 semapv:UnspecifiedMatching MONDO:0009185 amelocerebrohypohidrotic syndrome skos:exactMatch UMLS:C0406740 semapv:UnspecifiedMatching MONDO:0009185 amelocerebrohypohidrotic syndrome skos:exactMatch mesh:C537213 semapv:UnspecifiedMatching MONDO:0009186 epilepsy, photogenic, with spastic diplegia and intellectual disability skos:exactMatch OMIM:226800 epilepsy, photogenic, with spastic diplegia and mental retardation semapv:UnspecifiedMatching MONDO:0009186 epilepsy, photogenic, with spastic diplegia and intellectual disability skos:exactMatch UMLS:C1856931 semapv:UnspecifiedMatching MONDO:0009186 epilepsy, photogenic, with spastic diplegia and intellectual disability skos:exactMatch mesh:C565587 semapv:UnspecifiedMatching MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:exactMatch OMIM:226810 epilepsy with bilateral occipital calcifications semapv:UnspecifiedMatching MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:exactMatch Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome semapv:UnspecifiedMatching MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:exactMatch UMLS:C1856930 semapv:UnspecifiedMatching MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:exactMatch mesh:C535496 semapv:UnspecifiedMatching MONDO:0009188 epilepsy-telangiectasia syndrome skos:exactMatch OMIM:226850 epilepsy-telangiectasia semapv:UnspecifiedMatching MONDO:0009188 epilepsy-telangiectasia syndrome skos:exactMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:UnspecifiedMatching MONDO:0009188 epilepsy-telangiectasia syndrome skos:exactMatch UMLS:C1856929 semapv:UnspecifiedMatching MONDO:0009188 epilepsy-telangiectasia syndrome skos:exactMatch mesh:C535497 semapv:UnspecifiedMatching MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:exactMatch DOID:0070300 multiple epiphyseal dysplasia 4 semapv:UnspecifiedMatching MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:exactMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:UnspecifiedMatching MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:exactMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:UnspecifiedMatching MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:exactMatch SCTID:715672007 semapv:UnspecifiedMatching MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:exactMatch UMLS:C1847593 semapv:UnspecifiedMatching MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:exactMatch mesh:C535504 semapv:UnspecifiedMatching MONDO:0009190 epiphyseal dysplasia of femoral head, myopia, and deafness skos:exactMatch OMIM:226950 epiphyseal dysplasia of femoral head, myopia, and deafness semapv:UnspecifiedMatching MONDO:0009190 epiphyseal dysplasia of femoral head, myopia, and deafness skos:exactMatch UMLS:C1856918 semapv:UnspecifiedMatching MONDO:0009190 epiphyseal dysplasia of femoral head, myopia, and deafness skos:exactMatch mesh:C565585 semapv:UnspecifiedMatching MONDO:0009191 Lowry-Wood syndrome skos:exactMatch OMIM:226960 lowry-wood syndrome semapv:UnspecifiedMatching MONDO:0009191 Lowry-Wood syndrome skos:exactMatch Orphanet:1824 Lowry-Wood syndrome semapv:UnspecifiedMatching MONDO:0009191 Lowry-Wood syndrome skos:exactMatch SCTID:721975004 semapv:UnspecifiedMatching MONDO:0009191 Lowry-Wood syndrome skos:exactMatch UMLS:C0796021 semapv:UnspecifiedMatching MONDO:0009191 Lowry-Wood syndrome skos:exactMatch mesh:C537038 semapv:UnspecifiedMatching MONDO:0009192 Wolcott-Rallison syndrome skos:exactMatch DOID:0090060 Wolcott-Rallison syndrome semapv:UnspecifiedMatching MONDO:0009192 Wolcott-Rallison syndrome skos:exactMatch NCIT:C131007 Wolcott-Rallison Syndrome semapv:UnspecifiedMatching MONDO:0009192 Wolcott-Rallison syndrome skos:exactMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:UnspecifiedMatching MONDO:0009192 Wolcott-Rallison syndrome skos:exactMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:UnspecifiedMatching MONDO:0009192 Wolcott-Rallison syndrome skos:exactMatch SCTID:254066006 semapv:UnspecifiedMatching MONDO:0009192 Wolcott-Rallison syndrome skos:exactMatch UMLS:C0432217 semapv:UnspecifiedMatching MONDO:0009192 Wolcott-Rallison syndrome skos:exactMatch mesh:C536739 semapv:UnspecifiedMatching MONDO:0009193 epithelial squamous dysplasia, keratinizing desquamative, of urinary tract skos:exactMatch OMIM:226985 epithelial squamous dysplasia, keratinizing desquamative, of urinary tract semapv:UnspecifiedMatching MONDO:0009193 epithelial squamous dysplasia, keratinizing desquamative, of urinary tract skos:exactMatch UMLS:C1856902 semapv:UnspecifiedMatching MONDO:0009193 epithelial squamous dysplasia, keratinizing desquamative, of urinary tract skos:exactMatch mesh:C565584 semapv:UnspecifiedMatching MONDO:0009194 immunodeficiency 32B skos:exactMatch DOID:0111985 immunodeficiency 32B semapv:UnspecifiedMatching MONDO:0009194 immunodeficiency 32B skos:exactMatch OMIM:226990 immunodeficiency 32b semapv:UnspecifiedMatching MONDO:0009194 immunodeficiency 32B skos:exactMatch Orphanet:2566 Chronic Epstein-Barr virus infection syndrome semapv:UnspecifiedMatching MONDO:0009195 erythema of acral regions skos:exactMatch OMIM:227000 erythema of acral regions semapv:UnspecifiedMatching MONDO:0009196 ermine phenotype skos:exactMatch OMIM:227010 ermine phenotype semapv:UnspecifiedMatching MONDO:0009196 ermine phenotype skos:exactMatch Orphanet:999 Ermine phenotype semapv:UnspecifiedMatching MONDO:0009196 ermine phenotype skos:exactMatch SCTID:10170007 semapv:UnspecifiedMatching MONDO:0009196 ermine phenotype skos:exactMatch UMLS:C1856899 semapv:UnspecifiedMatching MONDO:0009196 ermine phenotype skos:exactMatch mesh:C535508 semapv:UnspecifiedMatching MONDO:0009196 ermine phenotype skos:exactMatch mesh:C562663 semapv:UnspecifiedMatching MONDO:0009197 transient erythroblastopenia of childhood skos:exactMatch NCIT:C131683 Transient Erythroblastopenia of Childhood semapv:UnspecifiedMatching MONDO:0009197 transient erythroblastopenia of childhood skos:exactMatch OMIM:227050 transient erythroblastopenia of childhood semapv:UnspecifiedMatching MONDO:0009197 transient erythroblastopenia of childhood skos:exactMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:UnspecifiedMatching MONDO:0009197 transient erythroblastopenia of childhood skos:exactMatch SCTID:191255003 semapv:UnspecifiedMatching MONDO:0009197 transient erythroblastopenia of childhood skos:exactMatch UMLS:C0238478 semapv:UnspecifiedMatching MONDO:0009197 transient erythroblastopenia of childhood skos:exactMatch mesh:C536980 semapv:UnspecifiedMatching MONDO:0009198 congenital lethal erythroderma skos:exactMatch OMIM:227090 erythroderma, lethal congenital semapv:UnspecifiedMatching MONDO:0009198 congenital lethal erythroderma skos:exactMatch Orphanet:1954 Congenital lethal erythroderma semapv:UnspecifiedMatching MONDO:0009198 congenital lethal erythroderma skos:exactMatch SCTID:722391005 semapv:UnspecifiedMatching MONDO:0009198 congenital lethal erythroderma skos:exactMatch mesh:C535513 semapv:UnspecifiedMatching MONDO:0009199 ethanolaminosis skos:exactMatch OMIM:227150 ethanolaminosis semapv:UnspecifiedMatching MONDO:0009199 ethanolaminosis skos:exactMatch SCTID:64235006 semapv:UnspecifiedMatching MONDO:0009199 ethanolaminosis skos:exactMatch UMLS:C0268423 semapv:UnspecifiedMatching MONDO:0009199 ethanolaminosis skos:exactMatch mesh:C562651 semapv:UnspecifiedMatching MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:exactMatch OMIM:227210 eyebrows, duplication of, with stretchable skin and syndactyly semapv:UnspecifiedMatching MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:exactMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:UnspecifiedMatching MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:exactMatch UMLS:C1856896 semapv:UnspecifiedMatching MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:exactMatch mesh:C536383 semapv:UnspecifiedMatching MONDO:0009201 facial abnormalities, kyphoscoliosis, and intellectual disability skos:exactMatch OMIM:227250 facial abnormalities, kyphoscoliosis, and mental retardation semapv:UnspecifiedMatching MONDO:0009201 facial abnormalities, kyphoscoliosis, and intellectual disability skos:exactMatch UMLS:C1856893 semapv:UnspecifiedMatching MONDO:0009201 facial abnormalities, kyphoscoliosis, and intellectual disability skos:exactMatch mesh:C565580 semapv:UnspecifiedMatching MONDO:0009202 Thakker-Donnai syndrome skos:exactMatch OMIM:227255 facial dysmorphism with multiple malformations semapv:UnspecifiedMatching MONDO:0009202 Thakker-Donnai syndrome skos:exactMatch Orphanet:1780 Thakker-Donnai syndrome semapv:UnspecifiedMatching MONDO:0009202 Thakker-Donnai syndrome skos:exactMatch UMLS:C1856892 semapv:UnspecifiedMatching MONDO:0009202 Thakker-Donnai syndrome skos:exactMatch mesh:C536503 semapv:UnspecifiedMatching MONDO:0009203 focal facial dermal dysplasia type III skos:exactMatch OMIM:227260 focal facial dermal dysplasia 3, setleis iia semapv:UnspecifiedMatching MONDO:0009203 focal facial dermal dysplasia type III skos:exactMatch Orphanet:1807 Focal facial dermal dysplasia type III semapv:UnspecifiedMatching MONDO:0009203 focal facial dermal dysplasia type III skos:exactMatch SCTID:403771007 semapv:UnspecifiedMatching MONDO:0009204 lethal faciocardiomelic dysplasia skos:exactMatch OMIM:227270 faciocardiomelic dysplasia, lethal semapv:UnspecifiedMatching MONDO:0009204 lethal faciocardiomelic dysplasia skos:exactMatch Orphanet:1972 Lethal faciocardiomelic dysplasia semapv:UnspecifiedMatching MONDO:0009204 lethal faciocardiomelic dysplasia skos:exactMatch SCTID:719400000 semapv:UnspecifiedMatching MONDO:0009204 lethal faciocardiomelic dysplasia skos:exactMatch UMLS:C1856891 semapv:UnspecifiedMatching MONDO:0009204 lethal faciocardiomelic dysplasia skos:exactMatch mesh:C565578 semapv:UnspecifiedMatching MONDO:0009205 faciocardiorenal syndrome skos:exactMatch OMIM:227280 faciocardiorenal syndrome semapv:UnspecifiedMatching MONDO:0009205 faciocardiorenal syndrome skos:exactMatch Orphanet:1973 Faciocardiorenal syndrome semapv:UnspecifiedMatching MONDO:0009205 faciocardiorenal syndrome skos:exactMatch SCTID:723333000 semapv:UnspecifiedMatching MONDO:0009205 faciocardiorenal syndrome skos:exactMatch UMLS:C0795936 semapv:UnspecifiedMatching MONDO:0009205 faciocardiorenal syndrome skos:exactMatch mesh:C536388 semapv:UnspecifiedMatching MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:exactMatch OMIM:227300 factor 5 and factor viii, combined deficiency of, 1 semapv:UnspecifiedMatching MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:exactMatch SCTID:84048006 semapv:UnspecifiedMatching MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor skos:exactMatch OMIM:227310 factor 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor semapv:UnspecifiedMatching MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor skos:exactMatch UMLS:C1856882 semapv:UnspecifiedMatching MONDO:0009208 faciothoracogenital syndrome skos:exactMatch OMIM:227320 faciothoracogenital syndrome semapv:UnspecifiedMatching MONDO:0009208 faciothoracogenital syndrome skos:exactMatch UMLS:C2931184 semapv:UnspecifiedMatching MONDO:0009208 faciothoracogenital syndrome skos:exactMatch mesh:C536387 semapv:UnspecifiedMatching MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:exactMatch OMIM:227330 faciodigitogenital syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:exactMatch Orphanet:1974 Autosomal recessive faciodigitogenital syndrome semapv:UnspecifiedMatching MONDO:0009210 congenital factor V deficiency skos:exactMatch DOID:2216 factor V deficiency semapv:UnspecifiedMatching MONDO:0009210 congenital factor V deficiency skos:exactMatch NCIT:C98938 Hereditary Factor V Deficiency semapv:UnspecifiedMatching MONDO:0009210 congenital factor V deficiency skos:exactMatch OMIM:227400 factor 5 deficiency semapv:UnspecifiedMatching MONDO:0009210 congenital factor V deficiency skos:exactMatch Orphanet:326 Congenital factor V deficiency semapv:UnspecifiedMatching MONDO:0009210 congenital factor V deficiency skos:exactMatch SCTID:88776002 semapv:UnspecifiedMatching MONDO:0009211 congenital factor VII deficiency skos:exactMatch DOID:2215 factor VII deficiency semapv:UnspecifiedMatching MONDO:0009211 congenital factor VII deficiency skos:exactMatch NCIT:C131631 Factor VII Deficiency semapv:UnspecifiedMatching MONDO:0009211 congenital factor VII deficiency skos:exactMatch OMIM:227500 factor 7 deficiency semapv:UnspecifiedMatching MONDO:0009211 congenital factor VII deficiency skos:exactMatch Orphanet:327 Congenital factor VII deficiency semapv:UnspecifiedMatching MONDO:0009211 congenital factor VII deficiency skos:exactMatch UMLS:C0272320 semapv:UnspecifiedMatching MONDO:0009212 congenital factor X deficiency skos:exactMatch DOID:2222 factor X deficiency semapv:UnspecifiedMatching MONDO:0009212 congenital factor X deficiency skos:exactMatch NCIT:C98940 Hereditary Factor X Deficiency semapv:UnspecifiedMatching MONDO:0009212 congenital factor X deficiency skos:exactMatch OMIM:227600 factor 10 deficiency semapv:UnspecifiedMatching MONDO:0009212 congenital factor X deficiency skos:exactMatch Orphanet:328 Congenital factor X deficiency semapv:UnspecifiedMatching MONDO:0009212 congenital factor X deficiency skos:exactMatch SCTID:37350004 semapv:UnspecifiedMatching MONDO:0009213 Fanconi anemia complementation group C skos:exactMatch DOID:0111087 Fanconi anemia complementation group C semapv:UnspecifiedMatching MONDO:0009213 Fanconi anemia complementation group C skos:exactMatch NCIT:C125704 Fanconi Anemia, Complementation Group C semapv:UnspecifiedMatching MONDO:0009213 Fanconi anemia complementation group C skos:exactMatch OMIM:227645 fanconi anemia, complementation group c semapv:UnspecifiedMatching MONDO:0009213 Fanconi anemia complementation group C skos:exactMatch UMLS:C3468041 semapv:UnspecifiedMatching MONDO:0009214 Fanconi anemia complementation group D2 skos:exactMatch DOID:0111083 Fanconi anemia complementation group D2 semapv:UnspecifiedMatching MONDO:0009214 Fanconi anemia complementation group D2 skos:exactMatch NCIT:C125706 Fanconi Anemia, Complementation Group D2 semapv:UnspecifiedMatching MONDO:0009214 Fanconi anemia complementation group D2 skos:exactMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:UnspecifiedMatching MONDO:0009214 Fanconi anemia complementation group D2 skos:exactMatch UMLS:C3160738 semapv:UnspecifiedMatching MONDO:0009215 Fanconi anemia complementation group A skos:exactMatch DOID:0111095 Fanconi anemia complementation group A semapv:UnspecifiedMatching MONDO:0009215 Fanconi anemia complementation group A skos:exactMatch NCIT:C125702 Fanconi Anemia, Complementation Group A semapv:UnspecifiedMatching MONDO:0009215 Fanconi anemia complementation group A skos:exactMatch OMIM:227650 fanconi anemia, complementation group a semapv:UnspecifiedMatching MONDO:0009215 Fanconi anemia complementation group A skos:exactMatch UMLS:C3469521 semapv:UnspecifiedMatching MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:exactMatch OMIM:227810 fanconi-bickel syndrome semapv:UnspecifiedMatching MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:exactMatch Orphanet:2088 Fanconi-Bickel syndrome semapv:UnspecifiedMatching MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:exactMatch SCTID:61598006 semapv:UnspecifiedMatching MONDO:0009217 Fanconi-like syndrome skos:exactMatch DOID:0090066 Fanconi-like syndrome semapv:UnspecifiedMatching MONDO:0009217 Fanconi-like syndrome skos:exactMatch OMIM:227850 fanconi-like syndrome semapv:UnspecifiedMatching MONDO:0009217 Fanconi-like syndrome skos:exactMatch SCTID:236469003 semapv:UnspecifiedMatching MONDO:0009217 Fanconi-like syndrome skos:exactMatch UMLS:C0151638 semapv:UnspecifiedMatching MONDO:0009217 Fanconi-like syndrome skos:exactMatch mesh:C536855 semapv:UnspecifiedMatching MONDO:0009218 Farber lipogranulomatosis skos:exactMatch DOID:0050464 Farber lipogranulomatosis semapv:UnspecifiedMatching MONDO:0009218 Farber lipogranulomatosis skos:exactMatch NCIT:C84710 Farber Lipogranulomatosis semapv:UnspecifiedMatching MONDO:0009218 Farber lipogranulomatosis skos:exactMatch OMIM:228000 farber lipogranulomatosis semapv:UnspecifiedMatching MONDO:0009218 Farber lipogranulomatosis skos:exactMatch Orphanet:333 Farber disease semapv:UnspecifiedMatching MONDO:0009218 Farber lipogranulomatosis skos:exactMatch SCTID:79935000 semapv:UnspecifiedMatching MONDO:0009218 Farber lipogranulomatosis skos:exactMatch UMLS:C0268255 semapv:UnspecifiedMatching MONDO:0009218 Farber lipogranulomatosis skos:exactMatch mesh:D055577 semapv:UnspecifiedMatching MONDO:0009219 fascial dystrophy, congenital skos:exactMatch OMIM:228020 fascial dystrophy, congenital semapv:UnspecifiedMatching MONDO:0009219 fascial dystrophy, congenital skos:exactMatch SCTID:399948007 semapv:UnspecifiedMatching MONDO:0009219 fascial dystrophy, congenital skos:exactMatch mesh:C563219 semapv:UnspecifiedMatching MONDO:0009220 visceral steatosis, congenital skos:exactMatch OMIM:228100 visceral steatosis, congenital semapv:UnspecifiedMatching MONDO:0009220 visceral steatosis, congenital skos:exactMatch SCTID:270881008 semapv:UnspecifiedMatching MONDO:0009220 visceral steatosis, congenital skos:exactMatch mesh:C536351 semapv:UnspecifiedMatching MONDO:0009221 femur-fibula-ulna complex skos:exactMatch OMIM:228200 femur-fibula-ulna syndrome semapv:UnspecifiedMatching MONDO:0009221 femur-fibula-ulna complex skos:exactMatch Orphanet:2019 Femur-fibula-ulna complex semapv:UnspecifiedMatching MONDO:0009221 femur-fibula-ulna complex skos:exactMatch UMLS:C1856790 semapv:UnspecifiedMatching MONDO:0009221 femur-fibula-ulna complex skos:exactMatch mesh:C537918 semapv:UnspecifiedMatching MONDO:0009222 Gollop-Wolfgang complex skos:exactMatch OMIM:228250 femur, unilateral bifid, with monodactylous ectrodactyly semapv:UnspecifiedMatching MONDO:0009222 Gollop-Wolfgang complex skos:exactMatch Orphanet:1986 Gollop-Wolfgang complex semapv:UnspecifiedMatching MONDO:0009222 Gollop-Wolfgang complex skos:exactMatch SCTID:716006003 semapv:UnspecifiedMatching MONDO:0009222 Gollop-Wolfgang complex skos:exactMatch UMLS:C1856789 semapv:UnspecifiedMatching MONDO:0009222 Gollop-Wolfgang complex skos:exactMatch mesh:C537917 semapv:UnspecifiedMatching MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia semapv:UnspecifiedMatching MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch OMIM:228300 hypogonadotropic hypogonadism 23 with or without anosmia semapv:UnspecifiedMatching MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency semapv:UnspecifiedMatching MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch SCTID:8829008 semapv:UnspecifiedMatching MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch UMLS:C0271582 semapv:UnspecifiedMatching MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch mesh:C537919 semapv:UnspecifiedMatching MONDO:0009224 fetal iodine syndrome skos:exactMatch OMIM:228355 fetal iodine deficiency disorder semapv:UnspecifiedMatching MONDO:0009224 fetal iodine syndrome skos:exactMatch Orphanet:1910 Fetal iodine syndrome semapv:UnspecifiedMatching MONDO:0009224 fetal iodine syndrome skos:exactMatch SCTID:718228001 semapv:UnspecifiedMatching MONDO:0009224 fetal iodine syndrome skos:exactMatch UMLS:C4273860 semapv:UnspecifiedMatching MONDO:0009225 fever, familial lifelong persistent skos:exactMatch OMIM:228400 fever, familial lifelong persistent semapv:UnspecifiedMatching MONDO:0009225 fever, familial lifelong persistent skos:exactMatch UMLS:C1856788 semapv:UnspecifiedMatching MONDO:0009225 fever, familial lifelong persistent skos:exactMatch mesh:C565569 semapv:UnspecifiedMatching MONDO:0009226 fibrochondrogenesis 1 skos:exactMatch DOID:0080672 fibrochondrogenesis 1 semapv:UnspecifiedMatching MONDO:0009226 fibrochondrogenesis 1 skos:exactMatch OMIM:228520 fibrochondrogenesis 1 semapv:UnspecifiedMatching MONDO:0009226 fibrochondrogenesis 1 skos:exactMatch UMLS:C3278138 semapv:UnspecifiedMatching MONDO:0009227 myofibromatosis, infantile, 1 skos:exactMatch OMIM:228550 myofibromatosis, infantile, 1 semapv:UnspecifiedMatching MONDO:0009227 myofibromatosis, infantile, 1 skos:exactMatch SCTID:254146000 semapv:UnspecifiedMatching MONDO:0009227 myofibromatosis, infantile, 1 skos:exactMatch mesh:C562978 semapv:UnspecifiedMatching MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:exactMatch OMIM:228560 fibromatosis, gingival, with distinctive facies semapv:UnspecifiedMatching MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:exactMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:exactMatch UMLS:C1856761 semapv:UnspecifiedMatching MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:exactMatch mesh:C565567 semapv:UnspecifiedMatching MONDO:0009229 hyaline fibromatosis syndrome skos:exactMatch DOID:0111669 hyaline fibromatosis syndrome semapv:UnspecifiedMatching MONDO:0009229 hyaline fibromatosis syndrome skos:exactMatch OMIM:228600 hyaline fibromatosis syndrome semapv:UnspecifiedMatching MONDO:0009229 hyaline fibromatosis syndrome skos:exactMatch Orphanet:498474 Hyaline fibromatosis syndrome semapv:UnspecifiedMatching MONDO:0009229 hyaline fibromatosis syndrome skos:exactMatch UMLS:C2745948 semapv:UnspecifiedMatching MONDO:0009230 fibrosclerosis, multifocal skos:exactMatch ICD10CM:M35.5 Multifocal fibrosclerosis semapv:UnspecifiedMatching MONDO:0009230 fibrosclerosis, multifocal skos:exactMatch OMIM:228800 fibrosclerosis, multifocal semapv:UnspecifiedMatching MONDO:0009230 fibrosclerosis, multifocal skos:exactMatch SCTID:111210001 semapv:UnspecifiedMatching MONDO:0009230 fibrosclerosis, multifocal skos:exactMatch mesh:C537375 semapv:UnspecifiedMatching MONDO:0009231 acromesomelic dysplasia 2B skos:exactMatch DOID:0050790 fibular hypoplasia and complex brachydactyly semapv:UnspecifiedMatching MONDO:0009231 acromesomelic dysplasia 2B skos:exactMatch OMIM:228900 acromesomelic dysplasia 2b semapv:UnspecifiedMatching MONDO:0009231 acromesomelic dysplasia 2B skos:exactMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0009231 acromesomelic dysplasia 2B skos:exactMatch SCTID:715474004 semapv:UnspecifiedMatching MONDO:0009231 acromesomelic dysplasia 2B skos:exactMatch UMLS:C1856738 semapv:UnspecifiedMatching MONDO:0009231 acromesomelic dysplasia 2B skos:exactMatch mesh:C537931 semapv:UnspecifiedMatching MONDO:0009232 Fuhrmann syndrome skos:exactMatch DOID:0090067 Fuhrmann syndrome semapv:UnspecifiedMatching MONDO:0009232 Fuhrmann syndrome skos:exactMatch OMIM:228930 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly semapv:UnspecifiedMatching MONDO:0009232 Fuhrmann syndrome skos:exactMatch Orphanet:2854 Fuhrmann syndrome semapv:UnspecifiedMatching MONDO:0009232 Fuhrmann syndrome skos:exactMatch SCTID:721296004 semapv:UnspecifiedMatching MONDO:0009232 Fuhrmann syndrome skos:exactMatch UMLS:C1856728 semapv:UnspecifiedMatching MONDO:0009232 Fuhrmann syndrome skos:exactMatch mesh:C538189 semapv:UnspecifiedMatching MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:exactMatch OMIM:228940 fibuloulnar aplasia or hypoplasia with renal abnormalities semapv:UnspecifiedMatching MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:exactMatch Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:UnspecifiedMatching MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:exactMatch SCTID:716094008 semapv:UnspecifiedMatching MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:exactMatch UMLS:C1856727 semapv:UnspecifiedMatching MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:exactMatch mesh:C537226 semapv:UnspecifiedMatching MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch DOID:0111676 high molecular weight kininogen deficiency semapv:UnspecifiedMatching MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch NCIT:C98946 High Molecular Weight Kininogen Deficiency semapv:UnspecifiedMatching MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch OMIM:228960 high molecular weight kininogen deficiency semapv:UnspecifiedMatching MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch Orphanet:483 Congenital high-molecular-weight kininogen deficiency semapv:UnspecifiedMatching MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch SCTID:27312002 semapv:UnspecifiedMatching MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch mesh:C537060 semapv:UnspecifiedMatching MONDO:0009235 familial benign flecked retina skos:exactMatch DOID:0111677 familial benign fleck retina semapv:UnspecifiedMatching MONDO:0009235 familial benign flecked retina skos:exactMatch OMIM:228980 fleck retina, familial benign semapv:UnspecifiedMatching MONDO:0009235 familial benign flecked retina skos:exactMatch Orphanet:363989 Familial benign flecked retina semapv:UnspecifiedMatching MONDO:0009235 familial benign flecked retina skos:exactMatch UMLS:C1856718 semapv:UnspecifiedMatching MONDO:0009235 familial benign flecked retina skos:exactMatch mesh:C565564 semapv:UnspecifiedMatching MONDO:0009236 Kandori fleck retina skos:exactMatch OMIM:228990 fleck retina of kandori semapv:UnspecifiedMatching MONDO:0009236 Kandori fleck retina skos:exactMatch Orphanet:99179 Kandori fleck retina semapv:UnspecifiedMatching MONDO:0009236 Kandori fleck retina skos:exactMatch SCTID:765191009 semapv:UnspecifiedMatching MONDO:0009236 Kandori fleck retina skos:exactMatch UMLS:C0271257 semapv:UnspecifiedMatching MONDO:0009236 Kandori fleck retina skos:exactMatch mesh:C562701 semapv:UnspecifiedMatching MONDO:0009237 focal epithelial hyperplasia skos:exactMatch DOID:5362 focal epithelial hyperplasia semapv:UnspecifiedMatching MONDO:0009237 focal epithelial hyperplasia skos:exactMatch NCIT:C97083 Focal Epithelial Hyperplasia semapv:UnspecifiedMatching MONDO:0009237 focal epithelial hyperplasia skos:exactMatch OMIM:229045 focal epithelial hyperplasia, oral semapv:UnspecifiedMatching MONDO:0009237 focal epithelial hyperplasia skos:exactMatch SCTID:6121001 semapv:UnspecifiedMatching MONDO:0009237 focal epithelial hyperplasia skos:exactMatch UMLS:C0206067 semapv:UnspecifiedMatching MONDO:0009237 focal epithelial hyperplasia skos:exactMatch mesh:D017573 semapv:UnspecifiedMatching MONDO:0009238 hereditary folate malabsorption skos:exactMatch DOID:0111678 hereditary folate malabsorption semapv:UnspecifiedMatching MONDO:0009238 hereditary folate malabsorption skos:exactMatch NCIT:C156424 Hereditary Folate Malabsorption semapv:UnspecifiedMatching MONDO:0009238 hereditary folate malabsorption skos:exactMatch OMIM:229050 folate malabsorption, hereditary semapv:UnspecifiedMatching MONDO:0009238 hereditary folate malabsorption skos:exactMatch Orphanet:90045 Hereditary folate malabsorption semapv:UnspecifiedMatching MONDO:0009238 hereditary folate malabsorption skos:exactMatch SCTID:62578003 semapv:UnspecifiedMatching MONDO:0009238 hereditary folate malabsorption skos:exactMatch UMLS:C0342705 semapv:UnspecifiedMatching MONDO:0009238 hereditary folate malabsorption skos:exactMatch mesh:C562799 semapv:UnspecifiedMatching MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:exactMatch DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia semapv:UnspecifiedMatching MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:exactMatch OMIM:229070 hypogonadotropic hypogonadism 24 with or without anosmia semapv:UnspecifiedMatching MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:exactMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:UnspecifiedMatching MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:exactMatch SCTID:758664007 semapv:UnspecifiedMatching MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:exactMatch UMLS:C5574957 semapv:UnspecifiedMatching MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:exactMatch mesh:C537070 semapv:UnspecifiedMatching MONDO:0009240 formiminoglutamic aciduria skos:exactMatch DOID:0111679 glutamate formiminotransferase deficiency semapv:UnspecifiedMatching MONDO:0009240 formiminoglutamic aciduria skos:exactMatch OMIM:229100 glutamate formiminotransferase deficiency semapv:UnspecifiedMatching MONDO:0009240 formiminoglutamic aciduria skos:exactMatch Orphanet:51208 Formiminoglutamic aciduria semapv:UnspecifiedMatching MONDO:0009240 formiminoglutamic aciduria skos:exactMatch SCTID:59761008 semapv:UnspecifiedMatching MONDO:0009240 formiminoglutamic aciduria skos:exactMatch UMLS:C0268609 semapv:UnspecifiedMatching MONDO:0009240 formiminoglutamic aciduria skos:exactMatch mesh:C537425 semapv:UnspecifiedMatching MONDO:0009241 fountain syndrome skos:exactMatch OMIM:229120 fountain syndrome semapv:UnspecifiedMatching MONDO:0009241 fountain syndrome skos:exactMatch Orphanet:3219 Fountain syndrome semapv:UnspecifiedMatching MONDO:0009241 fountain syndrome skos:exactMatch SCTID:720957007 semapv:UnspecifiedMatching MONDO:0009241 fountain syndrome skos:exactMatch UMLS:C0795944 semapv:UnspecifiedMatching MONDO:0009241 fountain syndrome skos:exactMatch mesh:C537270 semapv:UnspecifiedMatching MONDO:0009242 brittle cornea syndrome skos:exactMatch DOID:14775 brittle cornea syndrome 1 semapv:UnspecifiedMatching MONDO:0009242 brittle cornea syndrome skos:exactMatch OMIMPS:229200 semapv:UnspecifiedMatching MONDO:0009242 brittle cornea syndrome skos:exactMatch Orphanet:90354 Brittle cornea syndrome semapv:UnspecifiedMatching MONDO:0009242 brittle cornea syndrome skos:exactMatch SCTID:719096006 semapv:UnspecifiedMatching MONDO:0009243 Fraser-like syndrome skos:exactMatch OMIM:229230 fraser-like syndrome semapv:UnspecifiedMatching MONDO:0009243 Fraser-like syndrome skos:exactMatch UMLS:C1856708 semapv:UnspecifiedMatching MONDO:0009243 Fraser-like syndrome skos:exactMatch mesh:C565562 semapv:UnspecifiedMatching MONDO:0009244 Freesia Flowers, inability to smell skos:exactMatch OMIM:229250 freesia flowers, inability to smell semapv:UnspecifiedMatching MONDO:0009246 Friedreich ataxia and congenital glaucoma skos:exactMatch OMIM:229310 friedreich ataxia and congenital glaucoma semapv:UnspecifiedMatching MONDO:0009246 Friedreich ataxia and congenital glaucoma skos:exactMatch UMLS:C1856688 semapv:UnspecifiedMatching MONDO:0009246 Friedreich ataxia and congenital glaucoma skos:exactMatch mesh:C538061 semapv:UnspecifiedMatching MONDO:0009247 frontofacionasal dysplasia skos:exactMatch OMIM:229400 frontofacionasal dysplasia semapv:UnspecifiedMatching MONDO:0009247 frontofacionasal dysplasia skos:exactMatch Orphanet:1791 Frontofacionasal dysplasia semapv:UnspecifiedMatching MONDO:0009247 frontofacionasal dysplasia skos:exactMatch SCTID:716022002 semapv:UnspecifiedMatching MONDO:0009247 frontofacionasal dysplasia skos:exactMatch UMLS:C2931720 semapv:UnspecifiedMatching MONDO:0009247 frontofacionasal dysplasia skos:exactMatch mesh:C538063 semapv:UnspecifiedMatching MONDO:0009248 fructose and galactose intolerance skos:exactMatch OMIM:229500 fructose and galactose intolerance semapv:UnspecifiedMatching MONDO:0009248 fructose and galactose intolerance skos:exactMatch UMLS:C1856686 semapv:UnspecifiedMatching MONDO:0009248 fructose and galactose intolerance skos:exactMatch mesh:C565558 semapv:UnspecifiedMatching MONDO:0009249 hereditary fructose intolerance skos:exactMatch DOID:9869 hereditary fructose intolerance syndrome semapv:UnspecifiedMatching MONDO:0009249 hereditary fructose intolerance skos:exactMatch ICD10CM:E74.12 Hereditary fructose intolerance semapv:UnspecifiedMatching MONDO:0009249 hereditary fructose intolerance skos:exactMatch NCIT:C84720 Hereditary Fructose Intolerance semapv:UnspecifiedMatching MONDO:0009249 hereditary fructose intolerance skos:exactMatch OMIM:229600 fructose intolerance, hereditary semapv:UnspecifiedMatching MONDO:0009249 hereditary fructose intolerance skos:exactMatch Orphanet:469 Hereditary fructose intolerance semapv:UnspecifiedMatching MONDO:0009249 hereditary fructose intolerance skos:exactMatch SCTID:20052008 semapv:UnspecifiedMatching MONDO:0009249 hereditary fructose intolerance skos:exactMatch UMLS:C0016751 semapv:UnspecifiedMatching MONDO:0009250 obsolete fructose utilization skos:exactMatch OMIM:229650 fructose utilization semapv:UnspecifiedMatching MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:exactMatch DOID:5204 fructose-1,6-bisphosphatase deficiency semapv:UnspecifiedMatching MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:exactMatch NCIT:C128119 Fructose-1,6-Bisphosphatase Deficiency semapv:UnspecifiedMatching MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:exactMatch OMIM:229700 fructose-1,6-bisphosphatase deficiency semapv:UnspecifiedMatching MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:exactMatch Orphanet:348 Fructose-1,6-bisphosphatase deficiency semapv:UnspecifiedMatching MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:exactMatch SCTID:28183005 semapv:UnspecifiedMatching MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:exactMatch UMLS:C0016756 semapv:UnspecifiedMatching MONDO:0009252 essential fructosuria skos:exactMatch DOID:0111680 essential fructosuria semapv:UnspecifiedMatching MONDO:0009252 essential fructosuria skos:exactMatch ICD10CM:E74.11 Essential fructosuria semapv:UnspecifiedMatching MONDO:0009252 essential fructosuria skos:exactMatch OMIM:229800 fructosuria, essential semapv:UnspecifiedMatching MONDO:0009252 essential fructosuria skos:exactMatch Orphanet:2056 Essential fructosuria semapv:UnspecifiedMatching MONDO:0009252 essential fructosuria skos:exactMatch SCTID:40278002 semapv:UnspecifiedMatching MONDO:0009252 essential fructosuria skos:exactMatch UMLS:C0268160 semapv:UnspecifiedMatching MONDO:0009252 essential fructosuria skos:exactMatch mesh:C538068 semapv:UnspecifiedMatching MONDO:0009253 Fryns syndrome skos:exactMatch NCIT:C98932 Fryns Syndrome semapv:UnspecifiedMatching MONDO:0009253 Fryns syndrome skos:exactMatch OMIM:229850 fryns syndrome semapv:UnspecifiedMatching MONDO:0009253 Fryns syndrome skos:exactMatch Orphanet:2059 Fryns syndrome semapv:UnspecifiedMatching MONDO:0009253 Fryns syndrome skos:exactMatch SCTID:702432006 semapv:UnspecifiedMatching MONDO:0009253 Fryns syndrome skos:exactMatch UMLS:C0220730 semapv:UnspecifiedMatching MONDO:0009253 Fryns syndrome skos:exactMatch mesh:C538070 semapv:UnspecifiedMatching MONDO:0009254 fucosidosis skos:exactMatch DOID:14500 fucosidosis semapv:UnspecifiedMatching MONDO:0009254 fucosidosis skos:exactMatch NCIT:C61274 Fucosidosis semapv:UnspecifiedMatching MONDO:0009254 fucosidosis skos:exactMatch OMIM:230000 fucosidosis semapv:UnspecifiedMatching MONDO:0009254 fucosidosis skos:exactMatch Orphanet:349 Fucosidosis semapv:UnspecifiedMatching MONDO:0009254 fucosidosis skos:exactMatch SCTID:64716005 semapv:UnspecifiedMatching MONDO:0009254 fucosidosis skos:exactMatch UMLS:C0016788 semapv:UnspecifiedMatching MONDO:0009254 fucosidosis skos:exactMatch mesh:D005645 semapv:UnspecifiedMatching MONDO:0009255 galactokinase deficiency skos:exactMatch DOID:14695 galactokinase deficiency semapv:UnspecifiedMatching MONDO:0009255 galactokinase deficiency skos:exactMatch NCIT:C114767 Galactokinase Deficiency semapv:UnspecifiedMatching MONDO:0009255 galactokinase deficiency skos:exactMatch OMIM:230200 galactosemia 2 semapv:UnspecifiedMatching MONDO:0009255 galactokinase deficiency skos:exactMatch Orphanet:79237 Galactokinase deficiency semapv:UnspecifiedMatching MONDO:0009255 galactokinase deficiency skos:exactMatch SCTID:124302001 semapv:UnspecifiedMatching MONDO:0009255 galactokinase deficiency skos:exactMatch UMLS:C0268155 semapv:UnspecifiedMatching MONDO:0009256 galactorrhea skos:exactMatch NCIT:C113343 Galactorrhea semapv:UnspecifiedMatching MONDO:0009256 galactorrhea skos:exactMatch OMIM:230300 galactorrhea semapv:UnspecifiedMatching MONDO:0009256 galactorrhea skos:exactMatch SCTID:78622004 semapv:UnspecifiedMatching MONDO:0009256 galactorrhea skos:exactMatch mesh:D005687 semapv:UnspecifiedMatching MONDO:0009257 galactose epimerase deficiency skos:exactMatch DOID:0111458 galactose epimerase deficiency semapv:UnspecifiedMatching MONDO:0009257 galactose epimerase deficiency skos:exactMatch OMIM:230350 galactosemia 3 semapv:UnspecifiedMatching MONDO:0009257 galactose epimerase deficiency skos:exactMatch Orphanet:79238 Galactose epimerase deficiency semapv:UnspecifiedMatching MONDO:0009257 galactose epimerase deficiency skos:exactMatch SCTID:8849004 semapv:UnspecifiedMatching MONDO:0009258 classic galactosemia skos:exactMatch DOID:0111459 classic galactosemia semapv:UnspecifiedMatching MONDO:0009258 classic galactosemia skos:exactMatch OMIM:230400 galactosemia 1 semapv:UnspecifiedMatching MONDO:0009258 classic galactosemia skos:exactMatch Orphanet:79239 Classic galactosemia semapv:UnspecifiedMatching MONDO:0009258 classic galactosemia skos:exactMatch SCTID:10899004 semapv:UnspecifiedMatching MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:exactMatch DOID:0111681 glutamate-cysteine ligase deficiency semapv:UnspecifiedMatching MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:exactMatch OMIM:230450 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to semapv:UnspecifiedMatching MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:exactMatch Orphanet:33574 Glutamate-cysteine ligase deficiency semapv:UnspecifiedMatching MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:exactMatch SCTID:36799008 semapv:UnspecifiedMatching MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:exactMatch mesh:C565557 semapv:UnspecifiedMatching MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch DOID:0080502 GM1 gangliosidosis type 1 semapv:UnspecifiedMatching MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:UnspecifiedMatching MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch Orphanet:79255 GM1 gangliosidosis type 1 semapv:UnspecifiedMatching MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch SCTID:238026007 semapv:UnspecifiedMatching MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch DOID:0080501 GM1 gangliosidosis type 2 semapv:UnspecifiedMatching MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch OMIM:230600 gm1-gangliosidosis, iia 2 semapv:UnspecifiedMatching MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch Orphanet:79256 GM1 gangliosidosis type 2 semapv:UnspecifiedMatching MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch SCTID:18756002 semapv:UnspecifiedMatching MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch DOID:0080489 GM1 gangliosidosis type 3 semapv:UnspecifiedMatching MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch OMIM:230650 gm1-gangliosidosis, iia 3 semapv:UnspecifiedMatching MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch Orphanet:79257 GM1 gangliosidosis type 3 semapv:UnspecifiedMatching MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch SCTID:238027003 semapv:UnspecifiedMatching MONDO:0009263 GAPO syndrome skos:exactMatch DOID:0112249 GAPO syndrome semapv:UnspecifiedMatching MONDO:0009263 GAPO syndrome skos:exactMatch OMIM:230740 gapo syndrome semapv:UnspecifiedMatching MONDO:0009263 GAPO syndrome skos:exactMatch Orphanet:2067 GAPO syndrome semapv:UnspecifiedMatching MONDO:0009263 GAPO syndrome skos:exactMatch SCTID:721843003 semapv:UnspecifiedMatching MONDO:0009263 GAPO syndrome skos:exactMatch mesh:C535642 semapv:UnspecifiedMatching MONDO:0009264 gastroschisis skos:exactMatch DOID:11044 gastroschisis semapv:UnspecifiedMatching MONDO:0009264 gastroschisis skos:exactMatch ICD10CM:Q79.3 Gastroschisis semapv:UnspecifiedMatching MONDO:0009264 gastroschisis skos:exactMatch NCIT:C84725 Gastroschisis semapv:UnspecifiedMatching MONDO:0009264 gastroschisis skos:exactMatch OMIM:230750 gastroschisis semapv:UnspecifiedMatching MONDO:0009264 gastroschisis skos:exactMatch Orphanet:2368 Gastroschisis semapv:UnspecifiedMatching MONDO:0009264 gastroschisis skos:exactMatch SCTID:72951007 semapv:UnspecifiedMatching MONDO:0009264 gastroschisis skos:exactMatch UMLS:C0265706 semapv:UnspecifiedMatching MONDO:0009264 gastroschisis skos:exactMatch mesh:D020139 semapv:UnspecifiedMatching MONDO:0009265 Gaucher disease type I skos:exactMatch DOID:0110957 Gaucher's disease type I semapv:UnspecifiedMatching MONDO:0009265 Gaucher disease type I skos:exactMatch OMIM:230800 gaucher disease, iia 1 semapv:UnspecifiedMatching MONDO:0009265 Gaucher disease type I skos:exactMatch Orphanet:77259 Gaucher disease type 1 semapv:UnspecifiedMatching MONDO:0009266 Gaucher disease type II skos:exactMatch DOID:0110958 Gaucher's disease type II semapv:UnspecifiedMatching MONDO:0009266 Gaucher disease type II skos:exactMatch OMIM:230900 gaucher disease, iia 2 semapv:UnspecifiedMatching MONDO:0009266 Gaucher disease type II skos:exactMatch Orphanet:77260 Gaucher disease type 2 semapv:UnspecifiedMatching MONDO:0009266 Gaucher disease type II skos:exactMatch SCTID:12246008 semapv:UnspecifiedMatching MONDO:0009267 Gaucher disease type III skos:exactMatch DOID:0110959 Gaucher's disease type III semapv:UnspecifiedMatching MONDO:0009267 Gaucher disease type III skos:exactMatch OMIM:231000 gaucher disease, iia 3 semapv:UnspecifiedMatching MONDO:0009267 Gaucher disease type III skos:exactMatch Orphanet:77261 Gaucher disease type 3 semapv:UnspecifiedMatching MONDO:0009267 Gaucher disease type III skos:exactMatch SCTID:5963005 semapv:UnspecifiedMatching MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:UnspecifiedMatching MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch OMIM:231005 gaucher disease, iia 3c semapv:UnspecifiedMatching MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:UnspecifiedMatching MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch UMLS:C1856476 semapv:UnspecifiedMatching MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch mesh:C565553 semapv:UnspecifiedMatching MONDO:0009269 geleophysic dysplasia 1 skos:exactMatch DOID:0111725 geleophysic dysplasia 1 semapv:UnspecifiedMatching MONDO:0009269 geleophysic dysplasia 1 skos:exactMatch OMIM:231050 geleophysic dysplasia 1 semapv:UnspecifiedMatching MONDO:0009269 geleophysic dysplasia 1 skos:exactMatch UMLS:C3278147 semapv:UnspecifiedMatching MONDO:0009270 genito-palato-cardiac syndrome skos:exactMatch OMIM:231060 genitopalatocardiac syndrome semapv:UnspecifiedMatching MONDO:0009270 genito-palato-cardiac syndrome skos:exactMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:UnspecifiedMatching MONDO:0009270 genito-palato-cardiac syndrome skos:exactMatch UMLS:C1856466 semapv:UnspecifiedMatching MONDO:0009270 genito-palato-cardiac syndrome skos:exactMatch mesh:C537683 semapv:UnspecifiedMatching MONDO:0009271 geroderma osteodysplastica skos:exactMatch DOID:0111266 geroderma osteodysplasticum semapv:UnspecifiedMatching MONDO:0009271 geroderma osteodysplastica skos:exactMatch OMIM:231070 geroderma osteodysplasticum semapv:UnspecifiedMatching MONDO:0009271 geroderma osteodysplastica skos:exactMatch Orphanet:2078 Geroderma osteodysplastica semapv:UnspecifiedMatching MONDO:0009271 geroderma osteodysplastica skos:exactMatch SCTID:254116003 semapv:UnspecifiedMatching MONDO:0009271 geroderma osteodysplastica skos:exactMatch UMLS:C0432255 semapv:UnspecifiedMatching MONDO:0009271 geroderma osteodysplastica skos:exactMatch mesh:C537799 semapv:UnspecifiedMatching MONDO:0009272 German syndrome skos:exactMatch OMIM:231080 german syndrome semapv:UnspecifiedMatching MONDO:0009272 German syndrome skos:exactMatch Orphanet:2077 German syndrome semapv:UnspecifiedMatching MONDO:0009272 German syndrome skos:exactMatch SCTID:733037000 semapv:UnspecifiedMatching MONDO:0009272 German syndrome skos:exactMatch UMLS:C3887495 semapv:UnspecifiedMatching MONDO:0009272 German syndrome skos:exactMatch mesh:C562543 semapv:UnspecifiedMatching MONDO:0009273 hydatidiform mole, recurrent, 1 skos:exactMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:UnspecifiedMatching MONDO:0009273 hydatidiform mole, recurrent, 1 skos:exactMatch UMLS:C3463897 semapv:UnspecifiedMatching MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch DOID:0112251 Ghosal hematodiaphyseal syndrome semapv:UnspecifiedMatching MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch OMIM:231095 ghosal hematodiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch SCTID:389214003 semapv:UnspecifiedMatching MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch mesh:C565551 semapv:UnspecifiedMatching MONDO:0009275 neonatal hemochromatosis skos:exactMatch NCIT:C129980 Neonatal Hemochromatosis semapv:UnspecifiedMatching MONDO:0009275 neonatal hemochromatosis skos:exactMatch OMIM:231100 hemochromatosis, neonatal semapv:UnspecifiedMatching MONDO:0009275 neonatal hemochromatosis skos:exactMatch Orphanet:446 Neonatal hemochromatosis semapv:UnspecifiedMatching MONDO:0009275 neonatal hemochromatosis skos:exactMatch UMLS:C0268059 semapv:UnspecifiedMatching MONDO:0009275 neonatal hemochromatosis skos:exactMatch mesh:C536394 semapv:UnspecifiedMatching MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch DOID:2217 Bernard-Soulier syndrome semapv:UnspecifiedMatching MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch NCIT:C84595 Bernard-Soulier Syndrome semapv:UnspecifiedMatching MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch OMIM:231200 bernard-soulier syndrome semapv:UnspecifiedMatching MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch Orphanet:274 Bernard-Soulier syndrome semapv:UnspecifiedMatching MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch SCTID:234478007 semapv:UnspecifiedMatching MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch UMLS:C0005129 semapv:UnspecifiedMatching MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch mesh:D001606 semapv:UnspecifiedMatching MONDO:0009277 glaucoma 3A skos:exactMatch DOID:11211 buphthalmos semapv:UnspecifiedMatching MONDO:0009277 glaucoma 3A skos:exactMatch NCIT:C148260 Primary Congenital Glaucoma 3A semapv:UnspecifiedMatching MONDO:0009277 glaucoma 3A skos:exactMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:UnspecifiedMatching MONDO:0009277 glaucoma 3A skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:UnspecifiedMatching MONDO:0009279 triple-A syndrome skos:exactMatch DOID:0050602 triple-A syndrome semapv:UnspecifiedMatching MONDO:0009279 triple-A syndrome skos:exactMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:UnspecifiedMatching MONDO:0009279 triple-A syndrome skos:exactMatch Orphanet:869 Triple A syndrome semapv:UnspecifiedMatching MONDO:0009279 triple-A syndrome skos:exactMatch SCTID:45414006 semapv:UnspecifiedMatching MONDO:0009279 triple-A syndrome skos:exactMatch mesh:C536008 semapv:UnspecifiedMatching MONDO:0009280 monosodium glutamate sensitivity skos:exactMatch OMIM:231630 monosodium glutamate sensitivity semapv:UnspecifiedMatching MONDO:0009280 monosodium glutamate sensitivity skos:exactMatch SCTID:56344009 semapv:UnspecifiedMatching MONDO:0009280 monosodium glutamate sensitivity skos:exactMatch UMLS:C0008127 semapv:UnspecifiedMatching MONDO:0009280 monosodium glutamate sensitivity skos:exactMatch mesh:C562377 semapv:UnspecifiedMatching MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch DOID:0111254 glutaric acidemia I semapv:UnspecifiedMatching MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C99101 Glutaric Acidemia Type 1 semapv:UnspecifiedMatching MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch OMIM:231670 glutaric acidemia 1 semapv:UnspecifiedMatching MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch SCTID:76175005 semapv:UnspecifiedMatching MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C0268595 semapv:UnspecifiedMatching MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch mesh:C536833 semapv:UnspecifiedMatching MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch DOID:0060358 multiple acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C84907 Multiple Acyl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C0268596 semapv:UnspecifiedMatching MONDO:0009283 glutaric acidemia type 3 skos:exactMatch DOID:0112246 glutaric acidemia type 3 semapv:UnspecifiedMatching MONDO:0009283 glutaric acidemia type 3 skos:exactMatch OMIM:231690 glutaric aciduria 3 semapv:UnspecifiedMatching MONDO:0009283 glutaric acidemia type 3 skos:exactMatch Orphanet:35706 Glutaric acidemia type 3 semapv:UnspecifiedMatching MONDO:0009283 glutaric acidemia type 3 skos:exactMatch SCTID:238070003 semapv:UnspecifiedMatching MONDO:0009283 glutaric acidemia type 3 skos:exactMatch UMLS:C0342873 semapv:UnspecifiedMatching MONDO:0009283 glutaric acidemia type 3 skos:exactMatch mesh:C562818 semapv:UnspecifiedMatching MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:exactMatch DOID:0112252 glutathione synthetase deficiency of erythrocytes semapv:UnspecifiedMatching MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:exactMatch OMIM:231900 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to semapv:UnspecifiedMatching MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:exactMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:UnspecifiedMatching MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:exactMatch UMLS:C1856399 semapv:UnspecifiedMatching MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:exactMatch mesh:C565545 semapv:UnspecifiedMatching MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:exactMatch DOID:0111257 gamma-glutamyl transpeptidase deficiency semapv:UnspecifiedMatching MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:exactMatch OMIM:231950 glutathionuria semapv:UnspecifiedMatching MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:exactMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:UnspecifiedMatching MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:exactMatch SCTID:78586005 semapv:UnspecifiedMatching MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:exactMatch UMLS:C0268524 semapv:UnspecifiedMatching MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:exactMatch mesh:C536836 semapv:UnspecifiedMatching MONDO:0009286 gluteal muscles, absence of skos:exactMatch OMIM:231970 gluteal muscles, absence of semapv:UnspecifiedMatching MONDO:0009286 gluteal muscles, absence of skos:exactMatch mesh:C535561 semapv:UnspecifiedMatching MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch DOID:2749 glycogen storage disease Ia semapv:UnspecifiedMatching MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch OMIM:232200 glycogen storage disease ia semapv:UnspecifiedMatching MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:UnspecifiedMatching MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch SCTID:444707001 semapv:UnspecifiedMatching MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch UMLS:C2919796 semapv:UnspecifiedMatching MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch mesh:C538655 semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch DOID:0081330 glycogen storage disease Ib semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch DOID:0081331 glycogen storage disease Ic semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch NCIT:C122661 Glycogen Storage Disease Type Ib semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch OMIM:232220 glycogen storage disease ib semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch OMIM:232240 glycogen storage disease ic semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch SCTID:237965005 semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch SCTID:30102006 semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch UMLS:C0342749 semapv:UnspecifiedMatching MONDO:0009288 glycogen storage disease Ib skos:exactMatch mesh:C562594 semapv:UnspecifiedMatching MONDO:0009290 glycogen storage disease II skos:exactMatch DOID:2752 glycogen storage disease II semapv:UnspecifiedMatching MONDO:0009290 glycogen storage disease II skos:exactMatch NCIT:C84734 Glycogen Storage Disease Type II semapv:UnspecifiedMatching MONDO:0009290 glycogen storage disease II skos:exactMatch OMIM:232300 glycogen storage disease 2 semapv:UnspecifiedMatching MONDO:0009290 glycogen storage disease II skos:exactMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:UnspecifiedMatching MONDO:0009290 glycogen storage disease II skos:exactMatch SCTID:274864009 semapv:UnspecifiedMatching MONDO:0009290 glycogen storage disease II skos:exactMatch UMLS:C0017921 semapv:UnspecifiedMatching MONDO:0009291 glycogen storage disease III skos:exactMatch DOID:2748 glycogen storage disease III semapv:UnspecifiedMatching MONDO:0009291 glycogen storage disease III skos:exactMatch NCIT:C84736 Glycogen Storage Disease Type III semapv:UnspecifiedMatching MONDO:0009291 glycogen storage disease III skos:exactMatch OMIM:232400 glycogen storage disease 3 semapv:UnspecifiedMatching MONDO:0009291 glycogen storage disease III skos:exactMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:UnspecifiedMatching MONDO:0009291 glycogen storage disease III skos:exactMatch SCTID:66937008 semapv:UnspecifiedMatching MONDO:0009291 glycogen storage disease III skos:exactMatch UMLS:C0017922 semapv:UnspecifiedMatching MONDO:0009291 glycogen storage disease III skos:exactMatch mesh:D006010 semapv:UnspecifiedMatching MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch DOID:2750 glycogen storage disease IV semapv:UnspecifiedMatching MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch NCIT:C84737 Glycogen Storage Disease Type IV semapv:UnspecifiedMatching MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch OMIM:232500 glycogen storage disease 4 semapv:UnspecifiedMatching MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:UnspecifiedMatching MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch SCTID:124267007 semapv:UnspecifiedMatching MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch UMLS:C0017923 semapv:UnspecifiedMatching MONDO:0009293 glycogen storage disease V skos:exactMatch DOID:2746 glycogen storage disease V semapv:UnspecifiedMatching MONDO:0009293 glycogen storage disease V skos:exactMatch NCIT:C84738 Glycogen Storage Disease Type V semapv:UnspecifiedMatching MONDO:0009293 glycogen storage disease V skos:exactMatch OMIM:232600 glycogen storage disease 5 semapv:UnspecifiedMatching MONDO:0009293 glycogen storage disease V skos:exactMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:UnspecifiedMatching MONDO:0009293 glycogen storage disease V skos:exactMatch SCTID:55912009 semapv:UnspecifiedMatching MONDO:0009293 glycogen storage disease V skos:exactMatch UMLS:C0017924 semapv:UnspecifiedMatching MONDO:0009293 glycogen storage disease V skos:exactMatch mesh:D006012 semapv:UnspecifiedMatching MONDO:0009294 glycogen storage disease VI skos:exactMatch DOID:2754 glycogen storage disease VI semapv:UnspecifiedMatching MONDO:0009294 glycogen storage disease VI skos:exactMatch NCIT:C126875 Glycogen Storage Disease Type VI semapv:UnspecifiedMatching MONDO:0009294 glycogen storage disease VI skos:exactMatch OMIM:232700 glycogen storage disease 6 semapv:UnspecifiedMatching MONDO:0009294 glycogen storage disease VI skos:exactMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:UnspecifiedMatching MONDO:0009294 glycogen storage disease VI skos:exactMatch SCTID:29291001 semapv:UnspecifiedMatching MONDO:0009294 glycogen storage disease VI skos:exactMatch UMLS:C0017925 semapv:UnspecifiedMatching MONDO:0009294 glycogen storage disease VI skos:exactMatch mesh:D006013 semapv:UnspecifiedMatching MONDO:0009295 glycogen storage disease VII skos:exactMatch DOID:11721 glycogen storage disease VII semapv:UnspecifiedMatching MONDO:0009295 glycogen storage disease VII skos:exactMatch NCIT:C118437 Glycogen Storage Disease Type VII semapv:UnspecifiedMatching MONDO:0009295 glycogen storage disease VII skos:exactMatch OMIM:232800 glycogen storage disease 7 semapv:UnspecifiedMatching MONDO:0009295 glycogen storage disease VII skos:exactMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:UnspecifiedMatching MONDO:0009295 glycogen storage disease VII skos:exactMatch SCTID:89597008 semapv:UnspecifiedMatching MONDO:0009295 glycogen storage disease VII skos:exactMatch UMLS:C0017926 semapv:UnspecifiedMatching MONDO:0009295 glycogen storage disease VII skos:exactMatch mesh:D006014 semapv:UnspecifiedMatching MONDO:0009296 glycoprotein storage disease skos:exactMatch OMIM:232900 glycoprotein storage disease semapv:UnspecifiedMatching MONDO:0009296 glycoprotein storage disease skos:exactMatch SCTID:7810004 semapv:UnspecifiedMatching MONDO:0009296 glycoprotein storage disease skos:exactMatch UMLS:C1856275 semapv:UnspecifiedMatching MONDO:0009296 glycoprotein storage disease skos:exactMatch mesh:C565538 semapv:UnspecifiedMatching MONDO:0009297 familial renal glucosuria skos:exactMatch DOID:9432 renal glycosuria semapv:UnspecifiedMatching MONDO:0009297 familial renal glucosuria skos:exactMatch OMIM:233100 renal glucosuria semapv:UnspecifiedMatching MONDO:0009297 familial renal glucosuria skos:exactMatch Orphanet:69076 Familial renal glucosuria semapv:UnspecifiedMatching MONDO:0009297 familial renal glucosuria skos:exactMatch SCTID:267430007 semapv:UnspecifiedMatching MONDO:0009297 familial renal glucosuria skos:exactMatch UMLS:C3245525 semapv:UnspecifiedMatching MONDO:0009297 familial renal glucosuria skos:exactMatch mesh:D006030 semapv:UnspecifiedMatching MONDO:0009298 GOMBO syndrome skos:exactMatch OMIM:233270 gombo syndrome semapv:UnspecifiedMatching MONDO:0009298 GOMBO syndrome skos:exactMatch UMLS:C1856274 semapv:UnspecifiedMatching MONDO:0009298 GOMBO syndrome skos:exactMatch mesh:C537284 semapv:UnspecifiedMatching MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch DOID:14450 46 XX gonadal dysgenesis semapv:UnspecifiedMatching MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch NCIT:C120197 46,XX Gonadal Dysgenesis semapv:UnspecifiedMatching MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch OMIMPS:233300 semapv:UnspecifiedMatching MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch Orphanet:243 46,XX gonadal dysgenesis semapv:UnspecifiedMatching MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch SCTID:95198001 semapv:UnspecifiedMatching MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch UMLS:C0685837 semapv:UnspecifiedMatching MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch mesh:D023961 semapv:UnspecifiedMatching MONDO:0009300 Perrault syndrome 1 skos:exactMatch OMIM:233400 perrault syndrome 1 semapv:UnspecifiedMatching MONDO:0009300 Perrault syndrome 1 skos:exactMatch Orphanet:642945 Perrault syndrome type 1 semapv:UnspecifiedMatching MONDO:0009301 46,XY sex reversal 7 skos:exactMatch DOID:0111774 46,XY sex reversal 7 semapv:UnspecifiedMatching MONDO:0009301 46,XY sex reversal 7 skos:exactMatch OMIM:233420 46,xy sex reversal 7 semapv:UnspecifiedMatching MONDO:0009301 46,XY sex reversal 7 skos:exactMatch mesh:C565537 semapv:UnspecifiedMatching MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:exactMatch Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome semapv:UnspecifiedMatching MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:exactMatch UMLS:C1856272 semapv:UnspecifiedMatching MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:exactMatch mesh:C565536 semapv:UnspecifiedMatching MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch DOID:9808 Goodpasture syndrome semapv:UnspecifiedMatching MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch NCIT:C84566 Anti-Glomerular Basement Membrane Disease semapv:UnspecifiedMatching MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch OMIM:233450 goodpasture syndrome semapv:UnspecifiedMatching MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:UnspecifiedMatching MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch SCTID:236432001 semapv:UnspecifiedMatching MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch UMLS:C0403529 semapv:UnspecifiedMatching MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch mesh:D019867 semapv:UnspecifiedMatching MONDO:0009305 granulocytopenia with immunoglobulin abnormality skos:exactMatch DOID:0111974 immunodeficiency 59 semapv:UnspecifiedMatching MONDO:0009305 granulocytopenia with immunoglobulin abnormality skos:exactMatch OMIM:233600 immunodeficiency 59 and hypoglycemia semapv:UnspecifiedMatching MONDO:0009305 granulocytopenia with immunoglobulin abnormality skos:exactMatch UMLS:C1856263 semapv:UnspecifiedMatching MONDO:0009305 granulocytopenia with immunoglobulin abnormality skos:exactMatch mesh:C565535 semapv:UnspecifiedMatching MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:UnspecifiedMatching MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch OMIM:233650 combined cellular and humoral immune defects with granulomas semapv:UnspecifiedMatching MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:UnspecifiedMatching MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch UMLS:C2673536 semapv:UnspecifiedMatching MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch mesh:C567115 semapv:UnspecifiedMatching MONDO:0009307 granulomatous disease with defect in neutrophil chemotaxis skos:exactMatch UMLS:C1856261 semapv:UnspecifiedMatching MONDO:0009307 granulomatous disease with defect in neutrophil chemotaxis skos:exactMatch mesh:C565534 semapv:UnspecifiedMatching MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:exactMatch DOID:0070193 autosomal recessive chronic granulomatous disease 4 semapv:UnspecifiedMatching MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:exactMatch OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 semapv:UnspecifiedMatching MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:exactMatch UMLS:C1856255 semapv:UnspecifiedMatching MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:exactMatch mesh:C565533 semapv:UnspecifiedMatching MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:exactMatch DOID:0070192 autosomal recessive chronic granulomatous disease 1 semapv:UnspecifiedMatching MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:exactMatch OMIM:233700 granulomatous disease, chronic, autosomal recessive, 1 semapv:UnspecifiedMatching MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:exactMatch UMLS:C1856251 semapv:UnspecifiedMatching MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:exactMatch mesh:C565532 semapv:UnspecifiedMatching MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:exactMatch DOID:0070191 autosomal recessive chronic granulomatous disease 2 semapv:UnspecifiedMatching MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:exactMatch OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 semapv:UnspecifiedMatching MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:exactMatch UMLS:C1856245 semapv:UnspecifiedMatching MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:exactMatch mesh:C565531 semapv:UnspecifiedMatching MONDO:0009311 grouped pigmentation of the retina skos:exactMatch OMIM:233800 grouped pigmentation of the retina semapv:UnspecifiedMatching MONDO:0009311 grouped pigmentation of the retina skos:exactMatch UMLS:C1856244 semapv:UnspecifiedMatching MONDO:0009311 grouped pigmentation of the retina skos:exactMatch mesh:C565530 semapv:UnspecifiedMatching MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:exactMatch OMIM:233805 growth factors, combined defect of semapv:UnspecifiedMatching MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:exactMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:UnspecifiedMatching MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:exactMatch SCTID:724176001 semapv:UnspecifiedMatching MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:exactMatch UMLS:C2931279 semapv:UnspecifiedMatching MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:exactMatch mesh:C565529 semapv:UnspecifiedMatching MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:exactMatch OMIM:233810 growth retardation, small and puffy hands and feet, and eczema semapv:UnspecifiedMatching MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:exactMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:UnspecifiedMatching MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:exactMatch UMLS:C2931551 semapv:UnspecifiedMatching MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:exactMatch mesh:C537621 semapv:UnspecifiedMatching MONDO:0009315 congenital factor XII deficiency skos:exactMatch DOID:2231 factor XII deficiency semapv:UnspecifiedMatching MONDO:0009315 congenital factor XII deficiency skos:exactMatch NCIT:C131740 Factor XII Deficiency semapv:UnspecifiedMatching MONDO:0009315 congenital factor XII deficiency skos:exactMatch OMIM:234000 factor 12 deficiency semapv:UnspecifiedMatching MONDO:0009315 congenital factor XII deficiency skos:exactMatch Orphanet:330 Congenital factor XII deficiency semapv:UnspecifiedMatching MONDO:0009315 congenital factor XII deficiency skos:exactMatch SCTID:46981006 semapv:UnspecifiedMatching MONDO:0009315 congenital factor XII deficiency skos:exactMatch UMLS:C0015526 semapv:UnspecifiedMatching MONDO:0009315 congenital factor XII deficiency skos:exactMatch mesh:D005175 semapv:UnspecifiedMatching MONDO:0009317 obsolete nonphotosensitive trichothiodystrophy skos:exactMatch DOID:0111867 nonphotosensitive trichothiodystrophy semapv:UnspecifiedMatching MONDO:0009317 obsolete nonphotosensitive trichothiodystrophy skos:exactMatch Orphanet:1245 BIDS syndrome semapv:UnspecifiedMatching MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch DOID:4534 Hallermann-Streiff syndrome semapv:UnspecifiedMatching MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch NCIT:C84746 Hallermann Syndrome semapv:UnspecifiedMatching MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch OMIM:234100 hallermann-streiff syndrome semapv:UnspecifiedMatching MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:UnspecifiedMatching MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch SCTID:7903009 semapv:UnspecifiedMatching MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch UMLS:C0018522 semapv:UnspecifiedMatching MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch mesh:D006210 semapv:UnspecifiedMatching MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch DOID:3981 pantothenate kinase-associated neurodegeneration semapv:UnspecifiedMatching MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch NCIT:C84988 Pantothenate Kinase-Associated Neurodegeneration semapv:UnspecifiedMatching MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch OMIM:234200 neurodegeneration with brain iron accumulation 1 semapv:UnspecifiedMatching MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:UnspecifiedMatching MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch SCTID:2992000 semapv:UnspecifiedMatching MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch UMLS:C0018523 semapv:UnspecifiedMatching MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch mesh:D006211 semapv:UnspecifiedMatching MONDO:0009320 Hall-Riggs syndrome skos:exactMatch OMIM:234250 hall-riggs syndrome semapv:UnspecifiedMatching MONDO:0009320 Hall-Riggs syndrome skos:exactMatch Orphanet:2107 Hall-Riggs syndrome semapv:UnspecifiedMatching MONDO:0009320 Hall-Riggs syndrome skos:exactMatch SCTID:721008000 semapv:UnspecifiedMatching MONDO:0009320 Hall-Riggs syndrome skos:exactMatch UMLS:C1856198 semapv:UnspecifiedMatching MONDO:0009320 Hall-Riggs syndrome skos:exactMatch mesh:C535623 semapv:UnspecifiedMatching MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:exactMatch OMIM:234280 hallux varus and preaxial polysyndactyly semapv:UnspecifiedMatching MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:exactMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:UnspecifiedMatching MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:exactMatch UMLS:C1856197 semapv:UnspecifiedMatching MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:exactMatch mesh:C536885 semapv:UnspecifiedMatching MONDO:0009322 obsolete halo nevi skos:exactMatch OMIM:234300 halo nevi semapv:UnspecifiedMatching MONDO:0009323 Halothane hepatitis skos:exactMatch OMIM:234350 halothane hepatitis semapv:UnspecifiedMatching MONDO:0009323 Halothane hepatitis skos:exactMatch SCTID:235873001 semapv:UnspecifiedMatching MONDO:0009323 Halothane hepatitis skos:exactMatch UMLS:C0241913 semapv:UnspecifiedMatching MONDO:0009323 Halothane hepatitis skos:exactMatch mesh:C562477 semapv:UnspecifiedMatching MONDO:0009324 Hartnup disease skos:exactMatch DOID:1060 Hartnup disease semapv:UnspecifiedMatching MONDO:0009324 Hartnup disease skos:exactMatch NCIT:C84748 Hartnup Disease semapv:UnspecifiedMatching MONDO:0009324 Hartnup disease skos:exactMatch OMIM:234500 hartnup disorder semapv:UnspecifiedMatching MONDO:0009324 Hartnup disease skos:exactMatch Orphanet:2116 Hartnup disease semapv:UnspecifiedMatching MONDO:0009324 Hartnup disease skos:exactMatch SCTID:80902009 semapv:UnspecifiedMatching MONDO:0009324 Hartnup disease skos:exactMatch UMLS:C0018609 semapv:UnspecifiedMatching MONDO:0009324 Hartnup disease skos:exactMatch mesh:D006250 semapv:UnspecifiedMatching MONDO:0009326 congenital heart block skos:exactMatch DOID:990 congenital heart block semapv:UnspecifiedMatching MONDO:0009326 congenital heart block skos:exactMatch ICD10CM:Q24.6 Congenital heart block semapv:UnspecifiedMatching MONDO:0009326 congenital heart block skos:exactMatch OMIM:234700 heart block, congenital semapv:UnspecifiedMatching MONDO:0009326 congenital heart block skos:exactMatch Orphanet:60041 Congenital heart block semapv:UnspecifiedMatching MONDO:0009326 congenital heart block skos:exactMatch SCTID:46619002 semapv:UnspecifiedMatching MONDO:0009326 congenital heart block skos:exactMatch UMLS:C0149530 semapv:UnspecifiedMatching MONDO:0009326 congenital heart block skos:exactMatch mesh:C535758 semapv:UnspecifiedMatching MONDO:0009327 heart, malformation of skos:exactMatch OMIM:140500 heart, malformation of semapv:UnspecifiedMatching MONDO:0009327 heart, malformation of skos:exactMatch OMIM:234750 heart, malformation of semapv:UnspecifiedMatching MONDO:0009328 hemangiomatosis, cutaneous, with associated features skos:exactMatch OMIM:234800 hemangiomatosis, cutaneous, with associated features semapv:UnspecifiedMatching MONDO:0009328 hemangiomatosis, cutaneous, with associated features skos:exactMatch UMLS:C0220738 semapv:UnspecifiedMatching MONDO:0009328 hemangiomatosis, cutaneous, with associated features skos:exactMatch mesh:C562438 semapv:UnspecifiedMatching MONDO:0009329 pulmonary venoocclusive disease 2 skos:exactMatch DOID:0081269 pulmonary venoocclusive disease 2 semapv:UnspecifiedMatching MONDO:0009329 pulmonary venoocclusive disease 2 skos:exactMatch OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive semapv:UnspecifiedMatching MONDO:0009329 pulmonary venoocclusive disease 2 skos:exactMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:UnspecifiedMatching MONDO:0009329 pulmonary venoocclusive disease 2 skos:exactMatch SCTID:233949008 semapv:UnspecifiedMatching MONDO:0009329 pulmonary venoocclusive disease 2 skos:exactMatch UMLS:C0340848 semapv:UnspecifiedMatching MONDO:0009329 pulmonary venoocclusive disease 2 skos:exactMatch mesh:C535861 semapv:UnspecifiedMatching MONDO:0009330 hemangiopericytoma, malignant skos:exactMatch NCIT:C4301 Malignant Hemangiopericytoma semapv:UnspecifiedMatching MONDO:0009330 hemangiopericytoma, malignant skos:exactMatch OMIM:234820 hemangiopericytoma, malignant semapv:UnspecifiedMatching MONDO:0009330 hemangiopericytoma, malignant skos:exactMatch UMLS:C0334542 semapv:UnspecifiedMatching MONDO:0009330 hemangiopericytoma, malignant skos:exactMatch mesh:C562740 semapv:UnspecifiedMatching MONDO:0009331 isolated hemihyperplasia skos:exactMatch OMIM:235000 hemihyperplasia, isolated semapv:UnspecifiedMatching MONDO:0009331 isolated hemihyperplasia skos:exactMatch Orphanet:2128 Isolated hemihyperplasia semapv:UnspecifiedMatching MONDO:0009331 isolated hemihyperplasia skos:exactMatch UMLS:C1856184 semapv:UnspecifiedMatching MONDO:0009331 isolated hemihyperplasia skos:exactMatch mesh:C565524 semapv:UnspecifiedMatching MONDO:0009332 congenital hematological disorder skos:exactMatch NCIT:C104003 Congenital Hematological Disorder semapv:UnspecifiedMatching MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:exactMatch OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly semapv:UnspecifiedMatching MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:exactMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:UnspecifiedMatching MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:exactMatch UMLS:C1856159 semapv:UnspecifiedMatching MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:exactMatch mesh:C536478 semapv:UnspecifiedMatching MONDO:0009334 hemolytic anemia with thermal sensitivity of red cells skos:exactMatch OMIM:235370 hemolytic anemia with thermal sensitivity of red cells semapv:UnspecifiedMatching MONDO:0009334 hemolytic anemia with thermal sensitivity of red cells skos:exactMatch UMLS:C1856158 semapv:UnspecifiedMatching MONDO:0009334 hemolytic anemia with thermal sensitivity of red cells skos:exactMatch mesh:C565522 semapv:UnspecifiedMatching MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:exactMatch OMIM:235400 hemolytic uremic syndrome, atypical, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0009336 hemosiderosis, pulmonary, with deficiency of gamma-a globulin skos:exactMatch OMIM:235500 hemosiderosis, pulmonary, with deficiency of gamma-a globulin semapv:UnspecifiedMatching MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:exactMatch OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 semapv:UnspecifiedMatching MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:exactMatch UMLS:C4012050 semapv:UnspecifiedMatching MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch DOID:0112254 hepatic venoocclusive disease with immunodeficiency semapv:UnspecifiedMatching MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch OMIM:235550 hepatic venoocclusive disease with immunodeficiency semapv:UnspecifiedMatching MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:UnspecifiedMatching MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch SCTID:724361001 semapv:UnspecifiedMatching MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch UMLS:C1856128 semapv:UnspecifiedMatching MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch mesh:C537257 semapv:UnspecifiedMatching MONDO:0009339 congenital bile acid synthesis defect 2 skos:exactMatch DOID:0111069 congenital bile acid synthesis defect 2 semapv:UnspecifiedMatching MONDO:0009339 congenital bile acid synthesis defect 2 skos:exactMatch OMIM:235555 bile acid synthesis defect, congenital, 2 semapv:UnspecifiedMatching MONDO:0009339 congenital bile acid synthesis defect 2 skos:exactMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:UnspecifiedMatching MONDO:0009339 congenital bile acid synthesis defect 2 skos:exactMatch UMLS:C1856127 semapv:UnspecifiedMatching MONDO:0009339 congenital bile acid synthesis defect 2 skos:exactMatch mesh:C535443 semapv:UnspecifiedMatching MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:exactMatch OMIM:235700 hemolytic anemia, nonspherocytic, due to hexokinase deficiency semapv:UnspecifiedMatching MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:exactMatch Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency semapv:UnspecifiedMatching MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:exactMatch mesh:C562995 semapv:UnspecifiedMatching MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch DOID:0060485 Mowat-Wilson syndrome semapv:UnspecifiedMatching MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch NCIT:C74999 Mowat-Wilson Syndrome semapv:UnspecifiedMatching MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch OMIM:235730 mowat-wilson syndrome semapv:UnspecifiedMatching MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch Orphanet:2152 Mowat-Wilson syndrome semapv:UnspecifiedMatching MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch SCTID:703535000 semapv:UnspecifiedMatching MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch UMLS:C1856113 semapv:UnspecifiedMatching MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch mesh:C536990 semapv:UnspecifiedMatching MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:exactMatch OMIM:235740 hirschsprung disease with polydactyly, renal agenesis, and deafness semapv:UnspecifiedMatching MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:exactMatch Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome semapv:UnspecifiedMatching MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:exactMatch SCTID:721221000 semapv:UnspecifiedMatching MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:exactMatch mesh:C565518 semapv:UnspecifiedMatching MONDO:0009343 Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect skos:exactMatch OMIM:235750 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect semapv:UnspecifiedMatching MONDO:0009343 Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect skos:exactMatch UMLS:C1856111 semapv:UnspecifiedMatching MONDO:0009343 Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect skos:exactMatch mesh:C538120 semapv:UnspecifiedMatching MONDO:0009343 Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect skos:exactMatch mesh:C565517 semapv:UnspecifiedMatching MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:exactMatch OMIM:235760 hirschsprung disease with hypoplastic nails and dysmorphic facial features semapv:UnspecifiedMatching MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:exactMatch Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:exactMatch SCTID:721223002 semapv:UnspecifiedMatching MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:exactMatch mesh:C535615 semapv:UnspecifiedMatching MONDO:0009345 histidinemia skos:exactMatch DOID:0060168 histidinemia semapv:UnspecifiedMatching MONDO:0009345 histidinemia skos:exactMatch ICD10CM:E70.41 Histidinemia semapv:UnspecifiedMatching MONDO:0009345 histidinemia skos:exactMatch OMIM:235800 histidinemia semapv:UnspecifiedMatching MONDO:0009345 histidinemia skos:exactMatch Orphanet:2157 Histidinemia semapv:UnspecifiedMatching MONDO:0009345 histidinemia skos:exactMatch SCTID:410058007 semapv:UnspecifiedMatching MONDO:0009345 histidinemia skos:exactMatch UMLS:C0220992 semapv:UnspecifiedMatching MONDO:0009345 histidinemia skos:exactMatch mesh:C538320 semapv:UnspecifiedMatching MONDO:0009346 histidinuria due to a renal tubular defect skos:exactMatch OMIM:235830 histidinuria due to a renal tubular defect semapv:UnspecifiedMatching MONDO:0009346 histidinuria due to a renal tubular defect skos:exactMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:UnspecifiedMatching MONDO:0009346 histidinuria due to a renal tubular defect skos:exactMatch UMLS:C0268642 semapv:UnspecifiedMatching MONDO:0009346 histidinuria due to a renal tubular defect skos:exactMatch mesh:C538321 semapv:UnspecifiedMatching MONDO:0009347 familial lipochrome histiocytosis skos:exactMatch OMIM:235900 histiocytosis, familial lipochrome semapv:UnspecifiedMatching MONDO:0009347 familial lipochrome histiocytosis skos:exactMatch SCTID:234577004 semapv:UnspecifiedMatching MONDO:0009347 familial lipochrome histiocytosis skos:exactMatch UMLS:C0334125 semapv:UnspecifiedMatching MONDO:0009347 familial lipochrome histiocytosis skos:exactMatch mesh:C562738 semapv:UnspecifiedMatching MONDO:0009348 classic Hodgkin lymphoma skos:exactMatch NCIT:C7164 Classic Hodgkin Lymphoma semapv:UnspecifiedMatching MONDO:0009348 classic Hodgkin lymphoma skos:exactMatch OMIM:236000 lymphoma, hodgkin, classic semapv:UnspecifiedMatching MONDO:0009348 classic Hodgkin lymphoma skos:exactMatch Orphanet:391 Classic Hodgkin lymphoma semapv:UnspecifiedMatching MONDO:0009348 classic Hodgkin lymphoma skos:exactMatch UMLS:C0019829 semapv:UnspecifiedMatching MONDO:0009349 holoprosencephaly 1 skos:exactMatch DOID:0110881 holoprosencephaly 1 semapv:UnspecifiedMatching MONDO:0009349 holoprosencephaly 1 skos:exactMatch NCIT:C75476 Holoprosencephaly Type 1 semapv:UnspecifiedMatching MONDO:0009349 holoprosencephaly 1 skos:exactMatch OMIM:236100 holoprosencephaly 1 semapv:UnspecifiedMatching MONDO:0009349 holoprosencephaly 1 skos:exactMatch Orphanet:268936 Isolated arhinencephaly semapv:UnspecifiedMatching MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:exactMatch DOID:0060566 Holzgreve-Wagner-Rehder Syndrome semapv:UnspecifiedMatching MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:exactMatch OMIM:236110 holzgreve syndrome semapv:UnspecifiedMatching MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:exactMatch Orphanet:2167 Holzgreve syndrome semapv:UnspecifiedMatching MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:exactMatch UMLS:C1856095 semapv:UnspecifiedMatching MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:exactMatch mesh:C535327 semapv:UnspecifiedMatching MONDO:0009351 homocarnosinosis skos:exactMatch DOID:0060177 homocarnosinosis semapv:UnspecifiedMatching MONDO:0009351 homocarnosinosis skos:exactMatch OMIM:236130 homocarnosinosis semapv:UnspecifiedMatching MONDO:0009351 homocarnosinosis skos:exactMatch SCTID:61764000 semapv:UnspecifiedMatching MONDO:0009351 homocarnosinosis skos:exactMatch UMLS:C0268632 semapv:UnspecifiedMatching MONDO:0009351 homocarnosinosis skos:exactMatch mesh:C535328 semapv:UnspecifiedMatching MONDO:0009352 classic homocystinuria skos:exactMatch OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency semapv:UnspecifiedMatching MONDO:0009352 classic homocystinuria skos:exactMatch Orphanet:394 Homocystinuria due to cystathionine beta-synthase deficiency semapv:UnspecifiedMatching MONDO:0009352 classic homocystinuria skos:exactMatch SCTID:24308003 semapv:UnspecifiedMatching MONDO:0009352 classic homocystinuria skos:exactMatch UMLS:C0751202 semapv:UnspecifiedMatching MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:exactMatch OMIM:236250 homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity semapv:UnspecifiedMatching MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:exactMatch Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:UnspecifiedMatching MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:exactMatch SCTID:41797007 semapv:UnspecifiedMatching MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:exactMatch mesh:C537357 semapv:UnspecifiedMatching MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch DOID:0050732 methylmalonic aciduria and homocystinuria type cblE semapv:UnspecifiedMatching MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch DOID:0112255 homocystinuria-megaloblastic anemia cblE type semapv:UnspecifiedMatching MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch NCIT:C142173 Homocystinuria-Megaloblastic Anemia, cblE Complementation Type semapv:UnspecifiedMatching MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch OMIM:236270 homocystinuria-megaloblastic anemia, cble complementation iia semapv:UnspecifiedMatching MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch Orphanet:2169 Methylcobalamin deficiency type cblE semapv:UnspecifiedMatching MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch UMLS:C1856057 semapv:UnspecifiedMatching MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch mesh:C565510 semapv:UnspecifiedMatching MONDO:0009355 Hooft disease skos:exactMatch OMIM:236300 hooft disease semapv:UnspecifiedMatching MONDO:0009355 Hooft disease skos:exactMatch UMLS:C0268479 semapv:UnspecifiedMatching MONDO:0009355 Hooft disease skos:exactMatch mesh:C535329 semapv:UnspecifiedMatching MONDO:0009356 autosomal recessive humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:UnspecifiedMatching MONDO:0009357 humeroradial synostosis with craniofacial anomalies skos:exactMatch OMIM:236410 humeroradial synostosis with craniofacial anomalies semapv:UnspecifiedMatching MONDO:0009357 humeroradial synostosis with craniofacial anomalies skos:exactMatch UMLS:C1968717 semapv:UnspecifiedMatching MONDO:0009357 humeroradial synostosis with craniofacial anomalies skos:exactMatch mesh:C566888 semapv:UnspecifiedMatching MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome skos:exactMatch OMIM:236450 hutterite cerebroosteonephrodysplasia syndrome semapv:UnspecifiedMatching MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome skos:exactMatch UMLS:C1856054 semapv:UnspecifiedMatching MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome skos:exactMatch mesh:C536074 semapv:UnspecifiedMatching MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:exactMatch DOID:0080327 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly semapv:UnspecifiedMatching MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:exactMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:UnspecifiedMatching MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:exactMatch Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome semapv:UnspecifiedMatching MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:exactMatch UMLS:C1856053 semapv:UnspecifiedMatching MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:exactMatch mesh:C565507 semapv:UnspecifiedMatching MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:exactMatch OMIM:236600 hydrocephalus, congenital, 1 semapv:UnspecifiedMatching MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:exactMatch UMLS:C3887608 semapv:UnspecifiedMatching MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius skos:exactMatch OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius semapv:UnspecifiedMatching MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius skos:exactMatch UMLS:C0431355 semapv:UnspecifiedMatching MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:exactMatch OMIM:236640 hydrocephalus with associated malformations semapv:UnspecifiedMatching MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:exactMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:UnspecifiedMatching MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:exactMatch SCTID:716198008 semapv:UnspecifiedMatching MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:exactMatch UMLS:C1856052 semapv:UnspecifiedMatching MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:exactMatch mesh:C535406 semapv:UnspecifiedMatching MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:exactMatch OMIM:236660 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis semapv:UnspecifiedMatching MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:exactMatch Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome semapv:UnspecifiedMatching MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:exactMatch SCTID:732926009 semapv:UnspecifiedMatching MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:exactMatch UMLS:C1856051 semapv:UnspecifiedMatching MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:exactMatch mesh:C535770 semapv:UnspecifiedMatching MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:exactMatch DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 semapv:UnspecifiedMatching MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:exactMatch NCIT:C128118 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 semapv:UnspecifiedMatching MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:exactMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:UnspecifiedMatching MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:exactMatch UMLS:C4284790 semapv:UnspecifiedMatching MONDO:0009365 hydrolethalus syndrome 1 skos:exactMatch DOID:0111355 hydrolethalus syndrome 1 semapv:UnspecifiedMatching MONDO:0009365 hydrolethalus syndrome 1 skos:exactMatch OMIM:236680 hydrolethalus syndrome 1 semapv:UnspecifiedMatching MONDO:0009365 hydrolethalus syndrome 1 skos:exactMatch UMLS:C1856016 semapv:UnspecifiedMatching MONDO:0009365 hydrolethalus syndrome 1 skos:exactMatch mesh:C565504 semapv:UnspecifiedMatching MONDO:0009366 normal pressure hydrocephalus skos:exactMatch DOID:1572 normal pressure hydrocephalus semapv:UnspecifiedMatching MONDO:0009366 normal pressure hydrocephalus skos:exactMatch OMIM:236690 hydrocephalus, normal-pressure, 1 semapv:UnspecifiedMatching MONDO:0009366 normal pressure hydrocephalus skos:exactMatch SCTID:30753002 semapv:UnspecifiedMatching MONDO:0009366 normal pressure hydrocephalus skos:exactMatch UMLS:C0020258 semapv:UnspecifiedMatching MONDO:0009366 normal pressure hydrocephalus skos:exactMatch mesh:D006850 semapv:UnspecifiedMatching MONDO:0009367 McKusick-Kaufman syndrome skos:exactMatch DOID:0111255 McKusick-Kaufman syndrome semapv:UnspecifiedMatching MONDO:0009367 McKusick-Kaufman syndrome skos:exactMatch OMIM:236700 mckusick-kaufman syndrome semapv:UnspecifiedMatching MONDO:0009367 McKusick-Kaufman syndrome skos:exactMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:UnspecifiedMatching MONDO:0009367 McKusick-Kaufman syndrome skos:exactMatch SCTID:702407009 semapv:UnspecifiedMatching MONDO:0009367 McKusick-Kaufman syndrome skos:exactMatch UMLS:C0948368 semapv:UnspecifiedMatching MONDO:0009367 McKusick-Kaufman syndrome skos:exactMatch mesh:C538159 semapv:UnspecifiedMatching MONDO:0009368 urofacial syndrome type 1 skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:UnspecifiedMatching MONDO:0009369 non-immune hydrops fetalis skos:exactMatch NCIT:C111905 Non-Immune Hydrops Fetalis semapv:UnspecifiedMatching MONDO:0009369 non-immune hydrops fetalis skos:exactMatch OMIM:236750 hydrops fetalis, nonimmune semapv:UnspecifiedMatching MONDO:0009369 non-immune hydrops fetalis skos:exactMatch Orphanet:363999 Non-immune hydrops fetalis semapv:UnspecifiedMatching MONDO:0009369 non-immune hydrops fetalis skos:exactMatch SCTID:276509008 semapv:UnspecifiedMatching MONDO:0009369 non-immune hydrops fetalis skos:exactMatch UMLS:C0455988 semapv:UnspecifiedMatching MONDO:0009370 L-2-hydroxyglutaric aciduria skos:exactMatch DOID:0050574 L-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0009370 L-2-hydroxyglutaric aciduria skos:exactMatch OMIM:236792 l-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0009370 L-2-hydroxyglutaric aciduria skos:exactMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0009370 L-2-hydroxyglutaric aciduria skos:exactMatch SCTID:237961001 semapv:UnspecifiedMatching MONDO:0009370 L-2-hydroxyglutaric aciduria skos:exactMatch UMLS:C1855995 semapv:UnspecifiedMatching MONDO:0009371 3-hydroxyisobutyric aciduria skos:exactMatch OMIM:236795 3-hydroxyisobutyric aciduria semapv:UnspecifiedMatching MONDO:0009371 3-hydroxyisobutyric aciduria skos:exactMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:UnspecifiedMatching MONDO:0009371 3-hydroxyisobutyric aciduria skos:exactMatch SCTID:237957007 semapv:UnspecifiedMatching MONDO:0009371 3-hydroxyisobutyric aciduria skos:exactMatch UMLS:C0342737 semapv:UnspecifiedMatching MONDO:0009371 3-hydroxyisobutyric aciduria skos:exactMatch mesh:C535312 semapv:UnspecifiedMatching MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch DOID:0112257 hydroxykynureninuria semapv:UnspecifiedMatching MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch OMIM:236800 hydroxykynureninuria semapv:UnspecifiedMatching MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch Orphanet:79155 Hydroxykynureninuria semapv:UnspecifiedMatching MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch SCTID:72945002 semapv:UnspecifiedMatching MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch UMLS:C0268474 semapv:UnspecifiedMatching MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch mesh:C536081 semapv:UnspecifiedMatching MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:exactMatch OMIM:236900 hydroxylysinuria semapv:UnspecifiedMatching MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:exactMatch Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome semapv:UnspecifiedMatching MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:exactMatch UMLS:C1855986 semapv:UnspecifiedMatching MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:exactMatch mesh:C565502 semapv:UnspecifiedMatching MONDO:0009374 hydroxyprolinemia skos:exactMatch OMIM:237000 hydroxyprolinemia semapv:UnspecifiedMatching MONDO:0009374 hydroxyprolinemia skos:exactMatch SCTID:25739007 semapv:UnspecifiedMatching MONDO:0009374 hydroxyprolinemia skos:exactMatch UMLS:C0268531 semapv:UnspecifiedMatching MONDO:0009374 hydroxyprolinemia skos:exactMatch mesh:C562669 semapv:UnspecifiedMatching MONDO:0009375 hymen, imperforate skos:exactMatch ICD10CM:Q52.3 Imperforate hymen semapv:UnspecifiedMatching MONDO:0009375 hymen, imperforate skos:exactMatch OMIM:237100 hymen, imperforate semapv:UnspecifiedMatching MONDO:0009375 hymen, imperforate skos:exactMatch SCTID:65937002 semapv:UnspecifiedMatching MONDO:0009375 hymen, imperforate skos:exactMatch mesh:C562397 semapv:UnspecifiedMatching MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch DOID:9280 carbamoyl phosphate synthetase I deficiency disease semapv:UnspecifiedMatching MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch NCIT:C84612 Carbamoyl-Phosphate Synthetase I Deficiency semapv:UnspecifiedMatching MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:UnspecifiedMatching MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:UnspecifiedMatching MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch SCTID:62522004 semapv:UnspecifiedMatching MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch mesh:D020165 semapv:UnspecifiedMatching MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:UnspecifiedMatching MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch NCIT:C129307 N-Acetylglutamate Synthase Deficiency semapv:UnspecifiedMatching MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:UnspecifiedMatching MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:UnspecifiedMatching MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch SCTID:57119000 semapv:UnspecifiedMatching MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch mesh:C536109 semapv:UnspecifiedMatching MONDO:0009378 hyper-beta-alaninemia skos:exactMatch OMIM:237400 hyper-beta-alaninemia semapv:UnspecifiedMatching MONDO:0009378 hyper-beta-alaninemia skos:exactMatch Orphanet:309147 Hyper-beta-alaninemia semapv:UnspecifiedMatching MONDO:0009378 hyper-beta-alaninemia skos:exactMatch SCTID:2359002 semapv:UnspecifiedMatching MONDO:0009378 hyper-beta-alaninemia skos:exactMatch UMLS:C0268630 semapv:UnspecifiedMatching MONDO:0009378 hyper-beta-alaninemia skos:exactMatch mesh:C562684 semapv:UnspecifiedMatching MONDO:0009379 Rotor syndrome skos:exactMatch OMIM:237450 hyperbilirubinemia, rotor iia semapv:UnspecifiedMatching MONDO:0009379 Rotor syndrome skos:exactMatch Orphanet:3111 Rotor syndrome semapv:UnspecifiedMatching MONDO:0009379 Rotor syndrome skos:exactMatch SCTID:32891000 semapv:UnspecifiedMatching MONDO:0009379 Rotor syndrome skos:exactMatch UMLS:C0220991 semapv:UnspecifiedMatching MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch DOID:12308 Dubin-Johnson syndrome semapv:UnspecifiedMatching MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch NCIT:C34741 Dubin-Johnson Syndrome semapv:UnspecifiedMatching MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch OMIM:237500 dubin-johnson syndrome semapv:UnspecifiedMatching MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch Orphanet:234 Dubin-Johnson syndrome semapv:UnspecifiedMatching MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch SCTID:44553005 semapv:UnspecifiedMatching MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch UMLS:C0022350 semapv:UnspecifiedMatching MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch mesh:D007566 semapv:UnspecifiedMatching MONDO:0009381 hyperbilirubinemia, conjugated, type 3 skos:exactMatch OMIM:237550 hyperbilirubinemia, conjugated, iia 3 semapv:UnspecifiedMatching MONDO:0009381 hyperbilirubinemia, conjugated, type 3 skos:exactMatch SCTID:235906009 semapv:UnspecifiedMatching MONDO:0009381 hyperbilirubinemia, conjugated, type 3 skos:exactMatch UMLS:C0400964 semapv:UnspecifiedMatching MONDO:0009381 hyperbilirubinemia, conjugated, type 3 skos:exactMatch mesh:C562885 semapv:UnspecifiedMatching MONDO:0009382 hyperbilirubinemia, shunt, primary skos:exactMatch OMIM:237800 hyperbilirubinemia, shunt, primary semapv:UnspecifiedMatching MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:exactMatch OMIM:237900 hyperbilirubinemia, transient familial neonatal semapv:UnspecifiedMatching MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:exactMatch Orphanet:2312 Transient familial neonatal hyperbilirubinemia semapv:UnspecifiedMatching MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:exactMatch UMLS:C0270210 semapv:UnspecifiedMatching MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:exactMatch mesh:C562692 semapv:UnspecifiedMatching MONDO:0009384 Leydig cell hypoplasia, type 1 skos:exactMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:UnspecifiedMatching MONDO:0009385 hyperleucine-Isoleucinemia skos:exactMatch OMIM:238340 hyperleucine-isoleucinemia semapv:UnspecifiedMatching MONDO:0009385 hyperleucine-Isoleucinemia skos:exactMatch SCTID:7046009 semapv:UnspecifiedMatching MONDO:0009385 hyperleucine-Isoleucinemia skos:exactMatch UMLS:C0268574 semapv:UnspecifiedMatching MONDO:0009385 hyperleucine-Isoleucinemia skos:exactMatch mesh:C562674 semapv:UnspecifiedMatching MONDO:0009386 hyperlexia skos:exactMatch OMIM:238350 hyperlexia semapv:UnspecifiedMatching MONDO:0009386 hyperlexia skos:exactMatch mesh:C565500 semapv:UnspecifiedMatching MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch DOID:14118 familial lipoprotein lipase deficiency semapv:UnspecifiedMatching MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch NCIT:C84771 Hyperlipoproteinemia, Type I semapv:UnspecifiedMatching MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:UnspecifiedMatching MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:UnspecifiedMatching MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch SCTID:275598004 semapv:UnspecifiedMatching MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch mesh:D008072 semapv:UnspecifiedMatching MONDO:0009388 hyperlysinemia skos:exactMatch DOID:9274 hyperlysinemia semapv:UnspecifiedMatching MONDO:0009388 hyperlysinemia skos:exactMatch NCIT:C123433 Hyperlysinemia semapv:UnspecifiedMatching MONDO:0009388 hyperlysinemia skos:exactMatch OMIM:238700 hyperlysinemia, iia 1 semapv:UnspecifiedMatching MONDO:0009388 hyperlysinemia skos:exactMatch Orphanet:2203 Hyperlysinemia semapv:UnspecifiedMatching MONDO:0009388 hyperlysinemia skos:exactMatch SCTID:58558003 semapv:UnspecifiedMatching MONDO:0009388 hyperlysinemia skos:exactMatch UMLS:C0268553 semapv:UnspecifiedMatching MONDO:0009389 hyperlysinemia due to defect in lysine transport into mitochondria skos:exactMatch OMIM:238710 hyperlysinemia due to defect 1n lysine transport into mitochondria semapv:UnspecifiedMatching MONDO:0009389 hyperlysinemia due to defect in lysine transport into mitochondria skos:exactMatch UMLS:C1855927 semapv:UnspecifiedMatching MONDO:0009389 hyperlysinemia due to defect in lysine transport into mitochondria skos:exactMatch mesh:C565499 semapv:UnspecifiedMatching MONDO:0009390 hyperlysinuria with hyperammonemia skos:exactMatch OMIM:238750 hyperlysinuria with hyperammonemia semapv:UnspecifiedMatching MONDO:0009390 hyperlysinuria with hyperammonemia skos:exactMatch SCTID:342553006 semapv:UnspecifiedMatching MONDO:0009390 hyperlysinuria with hyperammonemia skos:exactMatch UMLS:C0268555 semapv:UnspecifiedMatching MONDO:0009391 hypermetabolism due to defect in mitochondria skos:exactMatch OMIM:238800 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 1 semapv:UnspecifiedMatching MONDO:0009391 hypermetabolism due to defect in mitochondria skos:exactMatch UMLS:C1855926 semapv:UnspecifiedMatching MONDO:0009391 hypermetabolism due to defect in mitochondria skos:exactMatch mesh:C565498 semapv:UnspecifiedMatching MONDO:0009392 hyperopia, high skos:exactMatch OMIM:238950 hyperopia, high semapv:UnspecifiedMatching MONDO:0009392 hyperopia, high skos:exactMatch mesh:C565497 semapv:UnspecifiedMatching MONDO:0009393 ornithine translocase deficiency skos:exactMatch DOID:0050720 ornithine translocase deficiency semapv:UnspecifiedMatching MONDO:0009393 ornithine translocase deficiency skos:exactMatch NCIT:C129029 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome semapv:UnspecifiedMatching MONDO:0009393 ornithine translocase deficiency skos:exactMatch OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:UnspecifiedMatching MONDO:0009393 ornithine translocase deficiency skos:exactMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:UnspecifiedMatching MONDO:0009393 ornithine translocase deficiency skos:exactMatch SCTID:30287008 semapv:UnspecifiedMatching MONDO:0009393 ornithine translocase deficiency skos:exactMatch UMLS:C0268540 semapv:UnspecifiedMatching MONDO:0009393 ornithine translocase deficiency skos:exactMatch mesh:C538380 semapv:UnspecifiedMatching MONDO:0009394 juvenile Paget disease skos:exactMatch DOID:0081368 Paget's disease of bone 5 semapv:UnspecifiedMatching MONDO:0009394 juvenile Paget disease skos:exactMatch NCIT:C131861 Juvenile Paget Disease semapv:UnspecifiedMatching MONDO:0009394 juvenile Paget disease skos:exactMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:UnspecifiedMatching MONDO:0009394 juvenile Paget disease skos:exactMatch Orphanet:2801 Juvenile Paget disease semapv:UnspecifiedMatching MONDO:0009394 juvenile Paget disease skos:exactMatch SCTID:9723006 semapv:UnspecifiedMatching MONDO:0009394 juvenile Paget disease skos:exactMatch mesh:C537701 semapv:UnspecifiedMatching MONDO:0009395 hyperostosis corticalis generalisata skos:exactMatch DOID:0080036 SOST-related sclerosing bone dysplasia semapv:UnspecifiedMatching MONDO:0009395 hyperostosis corticalis generalisata skos:exactMatch NCIT:C131812 Endosteal Hyperostosis semapv:UnspecifiedMatching MONDO:0009395 hyperostosis corticalis generalisata skos:exactMatch OMIM:239100 van buchem disease semapv:UnspecifiedMatching MONDO:0009395 hyperostosis corticalis generalisata skos:exactMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:UnspecifiedMatching MONDO:0009395 hyperostosis corticalis generalisata skos:exactMatch SCTID:59763006 semapv:UnspecifiedMatching MONDO:0009396 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria skos:exactMatch OMIM:239199 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria semapv:UnspecifiedMatching MONDO:0009396 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria skos:exactMatch UMLS:C1855924 semapv:UnspecifiedMatching MONDO:0009396 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria skos:exactMatch mesh:C565496 semapv:UnspecifiedMatching MONDO:0009397 neonatal severe primary hyperparathyroidism skos:exactMatch NCIT:C131853 Neonatal Severe Primary Hyperparathyroidism semapv:UnspecifiedMatching MONDO:0009397 neonatal severe primary hyperparathyroidism skos:exactMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:UnspecifiedMatching MONDO:0009397 neonatal severe primary hyperparathyroidism skos:exactMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:UnspecifiedMatching MONDO:0009397 neonatal severe primary hyperparathyroidism skos:exactMatch SCTID:715218009 semapv:UnspecifiedMatching MONDO:0009397 neonatal severe primary hyperparathyroidism skos:exactMatch UMLS:C1832615 semapv:UnspecifiedMatching MONDO:0009397 neonatal severe primary hyperparathyroidism skos:exactMatch mesh:C563375 semapv:UnspecifiedMatching MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:exactMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:UnspecifiedMatching MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:exactMatch UMLS:C4551502 semapv:UnspecifiedMatching MONDO:0009399 hyperphosphatemia, polyuria, and seizures skos:exactMatch OMIM:239350 hyperphosphatemia, polyuria, and seizures semapv:UnspecifiedMatching MONDO:0009399 hyperphosphatemia, polyuria, and seizures skos:exactMatch UMLS:C1855922 semapv:UnspecifiedMatching MONDO:0009399 hyperphosphatemia, polyuria, and seizures skos:exactMatch mesh:C565494 semapv:UnspecifiedMatching MONDO:0009400 hyperprolinemia type 1 skos:exactMatch DOID:0080542 hyperprolinemia type 1 semapv:UnspecifiedMatching MONDO:0009400 hyperprolinemia type 1 skos:exactMatch OMIM:239500 hyperprolinemia, iia 1 semapv:UnspecifiedMatching MONDO:0009400 hyperprolinemia type 1 skos:exactMatch Orphanet:419 Hyperprolinemia type 1 semapv:UnspecifiedMatching MONDO:0009400 hyperprolinemia type 1 skos:exactMatch SCTID:61071003 semapv:UnspecifiedMatching MONDO:0009401 hyperprolinemia type 2 skos:exactMatch DOID:0080543 hyperprolinemia type 2 semapv:UnspecifiedMatching MONDO:0009401 hyperprolinemia type 2 skos:exactMatch OMIM:239510 hyperprolinemia, iia 2 semapv:UnspecifiedMatching MONDO:0009401 hyperprolinemia type 2 skos:exactMatch Orphanet:79101 Hyperprolinemia type 2 semapv:UnspecifiedMatching MONDO:0009401 hyperprolinemia type 2 skos:exactMatch SCTID:717181004 semapv:UnspecifiedMatching MONDO:0009401 hyperprolinemia type 2 skos:exactMatch UMLS:C2931835 semapv:UnspecifiedMatching MONDO:0009401 hyperprolinemia type 2 skos:exactMatch mesh:C538385 semapv:UnspecifiedMatching MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:exactMatch OMIM:239710 acrofrontofacionasal dysostosis 2 semapv:UnspecifiedMatching MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:exactMatch Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome semapv:UnspecifiedMatching MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:exactMatch SCTID:721835008 semapv:UnspecifiedMatching MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:exactMatch mesh:C538332 semapv:UnspecifiedMatching MONDO:0009403 hypertelorism and tetralogy of fallot skos:exactMatch OMIM:239711 hypertelorism and tetralogy of fallot semapv:UnspecifiedMatching MONDO:0009403 hypertelorism and tetralogy of fallot skos:exactMatch UMLS:C1855903 semapv:UnspecifiedMatching MONDO:0009403 hypertelorism and tetralogy of fallot skos:exactMatch mesh:C538386 semapv:UnspecifiedMatching MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:exactMatch DOID:14670 hypertelorism, microtia, facial clefting syndrome semapv:UnspecifiedMatching MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:exactMatch OMIM:239800 hypertelorism, microtia, facial clefting syndrome semapv:UnspecifiedMatching MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:exactMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:UnspecifiedMatching MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:exactMatch SCTID:721836009 semapv:UnspecifiedMatching MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:exactMatch UMLS:C0220742 semapv:UnspecifiedMatching MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:exactMatch mesh:C537632 semapv:UnspecifiedMatching MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:exactMatch OMIM:239840 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy semapv:UnspecifiedMatching MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:exactMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:UnspecifiedMatching MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:exactMatch UMLS:C1855902 semapv:UnspecifiedMatching MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:exactMatch mesh:C565492 semapv:UnspecifiedMatching MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:exactMatch DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type semapv:UnspecifiedMatching MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:exactMatch OMIM:239850 cantu syndrome semapv:UnspecifiedMatching MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:exactMatch Orphanet:1517 Cantú syndrome semapv:UnspecifiedMatching MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:exactMatch SCTID:239087008 semapv:UnspecifiedMatching MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:exactMatch UMLS:C0795905 semapv:UnspecifiedMatching MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:exactMatch mesh:C535572 semapv:UnspecifiedMatching MONDO:0009407 hypertrophic neuropathy and cataract skos:exactMatch OMIM:239900 hypertrophic neuropathy and cataract semapv:UnspecifiedMatching MONDO:0009407 hypertrophic neuropathy and cataract skos:exactMatch UMLS:C1855885 semapv:UnspecifiedMatching MONDO:0009407 hypertrophic neuropathy and cataract skos:exactMatch mesh:C565490 semapv:UnspecifiedMatching MONDO:0009408 hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase skos:exactMatch OMIM:240000 hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase semapv:UnspecifiedMatching MONDO:0009408 hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase skos:exactMatch UMLS:C1855884 semapv:UnspecifiedMatching MONDO:0009408 hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase skos:exactMatch mesh:C565489 semapv:UnspecifiedMatching MONDO:0009409 hypervitaminosis a, susceptibility to skos:exactMatch OMIM:240150 hypervitaminosis a, susceptibility to semapv:UnspecifiedMatching MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch DOID:0050167 autoimmune polyendocrine syndrome type 1 semapv:UnspecifiedMatching MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch NCIT:C129727 Autoimmune Polyglandular Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch OMIM:240300 autoimmune polyendocrine syndrome, iia i, with or without reversible metaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:UnspecifiedMatching MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch SCTID:11244009 semapv:UnspecifiedMatching MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch UMLS:C0085859 semapv:UnspecifiedMatching MONDO:0009412 scurvy skos:exactMatch DOID:13724 scurvy semapv:UnspecifiedMatching MONDO:0009412 scurvy skos:exactMatch ICD10CM:E54 Ascorbic acid deficiency semapv:UnspecifiedMatching MONDO:0009412 scurvy skos:exactMatch NCIT:C35010 Vitamin C Deficiency semapv:UnspecifiedMatching MONDO:0009412 scurvy skos:exactMatch OMIM:240400 hypoascorbemia semapv:UnspecifiedMatching MONDO:0009412 scurvy skos:exactMatch SCTID:76169001 semapv:UnspecifiedMatching MONDO:0009412 scurvy skos:exactMatch UMLS:C0036474 semapv:UnspecifiedMatching MONDO:0009412 scurvy skos:exactMatch mesh:D001206 semapv:UnspecifiedMatching MONDO:0009412 scurvy skos:exactMatch mesh:D012614 semapv:UnspecifiedMatching MONDO:0009413 immunodeficiency, common variable, 2 skos:exactMatch DOID:0081145 common variable immunodeficiency 2 semapv:UnspecifiedMatching MONDO:0009413 immunodeficiency, common variable, 2 skos:exactMatch OMIM:240500 immunodeficiency, common variable, 2 semapv:UnspecifiedMatching MONDO:0009413 immunodeficiency, common variable, 2 skos:exactMatch UMLS:C3150354 semapv:UnspecifiedMatching MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch OMIM:240600 glycogen storage disease 0, liver semapv:UnspecifiedMatching MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:UnspecifiedMatching MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch SCTID:237964009 semapv:UnspecifiedMatching MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch UMLS:C1855861 semapv:UnspecifiedMatching MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch mesh:C565485 semapv:UnspecifiedMatching MONDO:0009415 hypoglycemia, leucine-induced skos:exactMatch DOID:0112262 leucine-sensitive hypoglycemia of infancy semapv:UnspecifiedMatching MONDO:0009415 hypoglycemia, leucine-induced skos:exactMatch OMIM:240800 hypoglycemia, leucine-induced semapv:UnspecifiedMatching MONDO:0009415 hypoglycemia, leucine-induced skos:exactMatch SCTID:62151007 semapv:UnspecifiedMatching MONDO:0009415 hypoglycemia, leucine-induced skos:exactMatch UMLS:C0271714 semapv:UnspecifiedMatching MONDO:0009415 hypoglycemia, leucine-induced skos:exactMatch mesh:C537150 semapv:UnspecifiedMatching MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:exactMatch DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:UnspecifiedMatching MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:exactMatch OMIM:240900 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:UnspecifiedMatching MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:exactMatch Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy semapv:UnspecifiedMatching MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:exactMatch UMLS:C3278384 semapv:UnspecifiedMatching MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:exactMatch OMIM:240950 hypogonadism-cataract syndrome semapv:UnspecifiedMatching MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:exactMatch Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome semapv:UnspecifiedMatching MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:exactMatch SCTID:721233005 semapv:UnspecifiedMatching MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:exactMatch UMLS:C1855859 semapv:UnspecifiedMatching MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:exactMatch mesh:C543092 semapv:UnspecifiedMatching MONDO:0009418 hypogonadism with low-grade mental deficiency and microcephaly skos:exactMatch OMIM:241000 hypogonadism with low-grade mental deficiency and microcephaly semapv:UnspecifiedMatching MONDO:0009418 hypogonadism with low-grade mental deficiency and microcephaly skos:exactMatch UMLS:C1855858 semapv:UnspecifiedMatching MONDO:0009418 hypogonadism with low-grade mental deficiency and microcephaly skos:exactMatch mesh:C565482 semapv:UnspecifiedMatching MONDO:0009419 Woodhouse-Sakati syndrome skos:exactMatch DOID:0112264 Woodhouse-Sakati syndrome semapv:UnspecifiedMatching MONDO:0009419 Woodhouse-Sakati syndrome skos:exactMatch OMIM:241080 woodhouse-sakati syndrome semapv:UnspecifiedMatching MONDO:0009419 Woodhouse-Sakati syndrome skos:exactMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:UnspecifiedMatching MONDO:0009419 Woodhouse-Sakati syndrome skos:exactMatch SCTID:237616002 semapv:UnspecifiedMatching MONDO:0009419 Woodhouse-Sakati syndrome skos:exactMatch UMLS:C0342286 semapv:UnspecifiedMatching MONDO:0009419 Woodhouse-Sakati syndrome skos:exactMatch mesh:C536742 semapv:UnspecifiedMatching MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:exactMatch OMIM:241090 hypergonadotropic hypogonadism and partial alopecia semapv:UnspecifiedMatching MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:exactMatch Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome semapv:UnspecifiedMatching MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:exactMatch SCTID:719275009 semapv:UnspecifiedMatching MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:exactMatch mesh:C567109 semapv:UnspecifiedMatching MONDO:0009421 hypogonadism, male skos:exactMatch OMIM:241100 hypogonadism, male semapv:UnspecifiedMatching MONDO:0009421 hypogonadism, male skos:exactMatch SCTID:48723006 semapv:UnspecifiedMatching MONDO:0009422 hypohidrosis with abnormal palmar dermal Ridges skos:exactMatch OMIM:241120 hypohidrosis with abnormal palmar dermal ridges semapv:UnspecifiedMatching MONDO:0009422 hypohidrosis with abnormal palmar dermal Ridges skos:exactMatch UMLS:C1855856 semapv:UnspecifiedMatching MONDO:0009422 hypohidrosis with abnormal palmar dermal Ridges skos:exactMatch mesh:C565481 semapv:UnspecifiedMatching MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy skos:exactMatch OMIM:241150 hypokalemic alkalosis, familial, with specific renal tubulopathy semapv:UnspecifiedMatching MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy skos:exactMatch SCTID:81987005 semapv:UnspecifiedMatching MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy skos:exactMatch UMLS:C0268444 semapv:UnspecifiedMatching MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy skos:exactMatch mesh:C562654 semapv:UnspecifiedMatching MONDO:0009424 Bartter disease type 2 skos:exactMatch DOID:0110143 Bartter disease type 2 semapv:UnspecifiedMatching MONDO:0009424 Bartter disease type 2 skos:exactMatch OMIM:241200 bartter syndrome, iia 2, antenatal semapv:UnspecifiedMatching MONDO:0009424 Bartter disease type 2 skos:exactMatch Orphanet:620220 Bartter syndrome type 2 semapv:UnspecifiedMatching MONDO:0009424 Bartter disease type 2 skos:exactMatch SCTID:700109009 semapv:UnspecifiedMatching MONDO:0009424 Bartter disease type 2 skos:exactMatch mesh:C537651 semapv:UnspecifiedMatching MONDO:0009425 hypomandibular faciocranial dysostosis skos:exactMatch OMIM:241310 hypomandibular faciocranial dysostosis semapv:UnspecifiedMatching MONDO:0009425 hypomandibular faciocranial dysostosis skos:exactMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:UnspecifiedMatching MONDO:0009425 hypomandibular faciocranial dysostosis skos:exactMatch SCTID:721845005 semapv:UnspecifiedMatching MONDO:0009425 hypomandibular faciocranial dysostosis skos:exactMatch mesh:C537154 semapv:UnspecifiedMatching MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch NCIT:C133727 Hypoparathyroidism-Retardation-Dysmorphism Syndrome semapv:UnspecifiedMatching MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch OMIM:241410 hypoparathyroidism-retardation-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:UnspecifiedMatching MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch UMLS:C1855840 semapv:UnspecifiedMatching MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch mesh:C537157 semapv:UnspecifiedMatching MONDO:0009427 obsolete infantile hypophosphatasia skos:exactMatch DOID:0110914 infantile hypophosphatasia semapv:UnspecifiedMatching MONDO:0009427 obsolete infantile hypophosphatasia skos:exactMatch OMIM:241500 hypophosphatasia, infantile semapv:UnspecifiedMatching MONDO:0009427 obsolete infantile hypophosphatasia skos:exactMatch Orphanet:247651 Infantile hypophosphatasia semapv:UnspecifiedMatching MONDO:0009427 obsolete infantile hypophosphatasia skos:exactMatch SCTID:55236002 semapv:UnspecifiedMatching MONDO:0009427 obsolete infantile hypophosphatasia skos:exactMatch UMLS:C0268412 semapv:UnspecifiedMatching MONDO:0009428 obsolete childhood hypophosphatasia skos:exactMatch DOID:0110915 childhood hypophosphatasia semapv:UnspecifiedMatching MONDO:0009428 obsolete childhood hypophosphatasia skos:exactMatch OMIM:241510 hypophosphatasia, childhood semapv:UnspecifiedMatching MONDO:0009428 obsolete childhood hypophosphatasia skos:exactMatch Orphanet:247667 Childhood-onset hypophosphatasia semapv:UnspecifiedMatching MONDO:0009428 obsolete childhood hypophosphatasia skos:exactMatch SCTID:30174008 semapv:UnspecifiedMatching MONDO:0009428 obsolete childhood hypophosphatasia skos:exactMatch UMLS:C0220743 semapv:UnspecifiedMatching MONDO:0009428 obsolete childhood hypophosphatasia skos:exactMatch mesh:C562440 semapv:UnspecifiedMatching MONDO:0009429 hypophosphatemia, renal, with intracerebral calcifications skos:exactMatch OMIM:241519 hypophosphatemia, renal, with intracerebral calcifications semapv:UnspecifiedMatching MONDO:0009429 hypophosphatemia, renal, with intracerebral calcifications skos:exactMatch UMLS:C1855809 semapv:UnspecifiedMatching MONDO:0009429 hypophosphatemia, renal, with intracerebral calcifications skos:exactMatch mesh:C565478 semapv:UnspecifiedMatching MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:exactMatch OMIM:241520 hypophosphatemic rickets, autosomal recessive, 1 semapv:UnspecifiedMatching MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:exactMatch UMLS:C4551495 semapv:UnspecifiedMatching MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:exactMatch mesh:C562792 semapv:UnspecifiedMatching MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria semapv:UnspecifiedMatching MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch NCIT:C131450 Hereditary Hypophosphatemic Rickets with Hypercalciuria semapv:UnspecifiedMatching MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary semapv:UnspecifiedMatching MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:UnspecifiedMatching MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch SCTID:237891005 semapv:UnspecifiedMatching MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch UMLS:C1853271 semapv:UnspecifiedMatching MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch mesh:C562793 semapv:UnspecifiedMatching MONDO:0009432 hypopituitarism, congenital, with central diabetes insipidus skos:exactMatch OMIM:241540 hypopituitarism, congenital, with central diabetes insipidus semapv:UnspecifiedMatching MONDO:0009432 hypopituitarism, congenital, with central diabetes insipidus skos:exactMatch UMLS:C1855800 semapv:UnspecifiedMatching MONDO:0009432 hypopituitarism, congenital, with central diabetes insipidus skos:exactMatch mesh:C565477 semapv:UnspecifiedMatching MONDO:0009433 hypoplastic left heart syndrome 1 skos:exactMatch OMIM:241550 hypoplastic left heart syndrome 1 semapv:UnspecifiedMatching MONDO:0009433 hypoplastic left heart syndrome 1 skos:exactMatch UMLS:C4551854 semapv:UnspecifiedMatching MONDO:0009434 hypoproteinemia, hypercatabolic skos:exactMatch DOID:0111981 immunodeficiency 43 semapv:UnspecifiedMatching MONDO:0009434 hypoproteinemia, hypercatabolic skos:exactMatch OMIM:241600 immunodeficiency 43 semapv:UnspecifiedMatching MONDO:0009434 hypoproteinemia, hypercatabolic skos:exactMatch UMLS:C1855796 semapv:UnspecifiedMatching MONDO:0009434 hypoproteinemia, hypercatabolic skos:exactMatch mesh:C565476 semapv:UnspecifiedMatching MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:exactMatch OMIM:241760 hypospadias-mental retardation syndrome semapv:UnspecifiedMatching MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:exactMatch Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome semapv:UnspecifiedMatching MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:exactMatch SCTID:716096005 semapv:UnspecifiedMatching MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:exactMatch mesh:C563067 semapv:UnspecifiedMatching MONDO:0009436 congenital hypothalamic hamartoma syndrome skos:exactMatch NCIT:C4385 Hypothalamic Hamartoma semapv:UnspecifiedMatching MONDO:0009436 congenital hypothalamic hamartoma syndrome skos:exactMatch OMIM:241800 pallister-hall-like syndrome semapv:UnspecifiedMatching MONDO:0009436 congenital hypothalamic hamartoma syndrome skos:exactMatch SCTID:237714006 semapv:UnspecifiedMatching MONDO:0009436 congenital hypothalamic hamartoma syndrome skos:exactMatch mesh:C537158 semapv:UnspecifiedMatching MONDO:0009437 Bamforth-Lazarus syndrome skos:exactMatch DOID:0050655 Bamforth-Lazarus syndrome semapv:UnspecifiedMatching MONDO:0009437 Bamforth-Lazarus syndrome skos:exactMatch OMIM:241850 bamforth-lazarus syndrome semapv:UnspecifiedMatching MONDO:0009437 Bamforth-Lazarus syndrome skos:exactMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:UnspecifiedMatching MONDO:0009437 Bamforth-Lazarus syndrome skos:exactMatch SCTID:722375007 semapv:UnspecifiedMatching MONDO:0009437 Bamforth-Lazarus syndrome skos:exactMatch mesh:C537901 semapv:UnspecifiedMatching MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density skos:exactMatch OMIM:242050 hypouricemia, hypercalcinuria, and decreased bone density semapv:UnspecifiedMatching MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density skos:exactMatch UMLS:C1855793 semapv:UnspecifiedMatching MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density skos:exactMatch mesh:C565475 semapv:UnspecifiedMatching MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:exactMatch DOID:0060710 autosomal recessive congenital ichthyosis 2 semapv:UnspecifiedMatching MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:exactMatch NCIT:C132827 Autosomal Recessive Congenital Ichthyosis 2 semapv:UnspecifiedMatching MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:exactMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:exactMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:exactMatch SCTID:403780007 semapv:UnspecifiedMatching MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:exactMatch UMLS:C1275089 semapv:UnspecifiedMatching MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:exactMatch mesh:C537363 semapv:UnspecifiedMatching MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:exactMatch DOID:0060656 autosomal recessive congenital ichthyosis 1 semapv:UnspecifiedMatching MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:exactMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:UnspecifiedMatching MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:exactMatch UMLS:C4551630 semapv:UnspecifiedMatching MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:exactMatch mesh:D017490 semapv:UnspecifiedMatching MONDO:0009442 ichthyosis congenita with biliary atresia skos:exactMatch OMIM:242400 ichthyosis congenita with biliary atresia semapv:UnspecifiedMatching MONDO:0009442 ichthyosis congenita with biliary atresia skos:exactMatch SCTID:235916001 semapv:UnspecifiedMatching MONDO:0009442 ichthyosis congenita with biliary atresia skos:exactMatch mesh:C562886 semapv:UnspecifiedMatching MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch DOID:0060713 autosomal recessive congenital ichthyosis 4B semapv:UnspecifiedMatching MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch NCIT:C98934 Harlequin Ichthyosis semapv:UnspecifiedMatching MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch OMIM:242500 ichthyosis, congenital, autosomal recessive 4b semapv:UnspecifiedMatching MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch Orphanet:457 Harlequin ichthyosis semapv:UnspecifiedMatching MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch SCTID:205548006 semapv:UnspecifiedMatching MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch UMLS:C0598226 semapv:UnspecifiedMatching MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:exactMatch OMIM:242510 ichthyosis with alopecia, eclabium, ectropion, and mental retardation semapv:UnspecifiedMatching MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:exactMatch Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:exactMatch UMLS:C1855788 semapv:UnspecifiedMatching MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:exactMatch mesh:C537364 semapv:UnspecifiedMatching MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:exactMatch OMIM:242520 ichthyosis, hepatosplenomegaly, and cerebellar degeneration semapv:UnspecifiedMatching MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:exactMatch Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:UnspecifiedMatching MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:exactMatch SCTID:403779009 semapv:UnspecifiedMatching MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:exactMatch UMLS:C1275088 semapv:UnspecifiedMatching MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:exactMatch mesh:C535727 semapv:UnspecifiedMatching MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:exactMatch OMIM:242530 ichthyosis, mental retardation, dwarfism, and renal impairment semapv:UnspecifiedMatching MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:exactMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:UnspecifiedMatching MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:exactMatch UMLS:C1855787 semapv:UnspecifiedMatching MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:exactMatch mesh:C536274 semapv:UnspecifiedMatching MONDO:0009447 ichthyosis, split hairs, and amino aciduria skos:exactMatch OMIM:242550 ichthyosis, split hairs, and amino aciduria semapv:UnspecifiedMatching MONDO:0009447 ichthyosis, split hairs, and amino aciduria skos:exactMatch UMLS:C1855786 semapv:UnspecifiedMatching MONDO:0009447 ichthyosis, split hairs, and amino aciduria skos:exactMatch mesh:C565471 semapv:UnspecifiedMatching MONDO:0009448 iminoglycinuria skos:exactMatch DOID:0112265 iminoglycinuria semapv:UnspecifiedMatching MONDO:0009448 iminoglycinuria skos:exactMatch OMIM:242600 iminoglycinuria semapv:UnspecifiedMatching MONDO:0009448 iminoglycinuria skos:exactMatch Orphanet:42062 Iminoglycinuria semapv:UnspecifiedMatching MONDO:0009448 iminoglycinuria skos:exactMatch SCTID:84121007 semapv:UnspecifiedMatching MONDO:0009448 iminoglycinuria skos:exactMatch UMLS:C0268654 semapv:UnspecifiedMatching MONDO:0009448 iminoglycinuria skos:exactMatch mesh:C536285 semapv:UnspecifiedMatching MONDO:0009449 ciliary dyskinesia with defective radial spokes skos:exactMatch OMIM:242670 ciliary dyskinesia with defective radial spokes semapv:UnspecifiedMatching MONDO:0009449 ciliary dyskinesia with defective radial spokes skos:exactMatch SCTID:233664005 semapv:UnspecifiedMatching MONDO:0009449 ciliary dyskinesia with defective radial spokes skos:exactMatch UMLS:C0340035 semapv:UnspecifiedMatching MONDO:0009449 ciliary dyskinesia with defective radial spokes skos:exactMatch mesh:C536286 semapv:UnspecifiedMatching MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:exactMatch OMIM:242680 ciliary dyskinesia with excessively long cilia semapv:UnspecifiedMatching MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:exactMatch SCTID:233665006 semapv:UnspecifiedMatching MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:exactMatch mesh:C536287 semapv:UnspecifiedMatching MONDO:0009451 Nezelof syndrome skos:exactMatch DOID:2012 Nezelof syndrome semapv:UnspecifiedMatching MONDO:0009451 Nezelof syndrome skos:exactMatch OMIM:242700 t-cell immunodeficiency with thymic aplasia semapv:UnspecifiedMatching MONDO:0009451 Nezelof syndrome skos:exactMatch Orphanet:83471 T-cell immunodeficiency with thymic aplasia semapv:UnspecifiedMatching MONDO:0009451 Nezelof syndrome skos:exactMatch SCTID:55602000 semapv:UnspecifiedMatching MONDO:0009451 Nezelof syndrome skos:exactMatch UMLS:C2752083 semapv:UnspecifiedMatching MONDO:0009451 Nezelof syndrome skos:exactMatch mesh:C536288 semapv:UnspecifiedMatching MONDO:0009452 Vici syndrome skos:exactMatch DOID:0060356 Vici syndrome semapv:UnspecifiedMatching MONDO:0009452 Vici syndrome skos:exactMatch NCIT:C138174 Vici Syndrome semapv:UnspecifiedMatching MONDO:0009452 Vici syndrome skos:exactMatch OMIM:242840 vici syndrome semapv:UnspecifiedMatching MONDO:0009452 Vici syndrome skos:exactMatch Orphanet:1493 Vici syndrome semapv:UnspecifiedMatching MONDO:0009452 Vici syndrome skos:exactMatch SCTID:719824001 semapv:UnspecifiedMatching MONDO:0009452 Vici syndrome skos:exactMatch UMLS:C1855772 semapv:UnspecifiedMatching MONDO:0009452 Vici syndrome skos:exactMatch mesh:C535566 semapv:UnspecifiedMatching MONDO:0009453 immune deficiency disease skos:exactMatch OMIM:242850 immune deficiency disease semapv:UnspecifiedMatching MONDO:0009453 immune deficiency disease skos:exactMatch UMLS:C1855771 semapv:UnspecifiedMatching MONDO:0009453 immune deficiency disease skos:exactMatch mesh:C565469 semapv:UnspecifiedMatching MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:exactMatch DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 semapv:UnspecifiedMatching MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:exactMatch NCIT:C156430 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 semapv:UnspecifiedMatching MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:exactMatch OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 semapv:UnspecifiedMatching MONDO:0009455 immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes skos:exactMatch OMIM:242870 immunodeficiency, partial combined, with absence of hla determinants and beta-2-microglobulin from lymphocytes semapv:UnspecifiedMatching MONDO:0009455 immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes skos:exactMatch UMLS:C1855762 semapv:UnspecifiedMatching MONDO:0009455 immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes skos:exactMatch mesh:C565468 semapv:UnspecifiedMatching MONDO:0009456 Immunoerythromyeloid hypoplasia skos:exactMatch OMIM:242880 immunoerythromyeloid hypoplasia semapv:UnspecifiedMatching MONDO:0009456 Immunoerythromyeloid hypoplasia skos:exactMatch UMLS:CN074232 semapv:UnspecifiedMatching MONDO:0009457 immunoglobulin d level in plasma, low skos:exactMatch OMIM:242890 immunoglobulin d level 1n plasma, low semapv:UnspecifiedMatching MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch DOID:0060490 Schimke immuno-osseous dysplasia semapv:UnspecifiedMatching MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch NCIT:C135087 Schimke Immunoosseous Dysplasia semapv:UnspecifiedMatching MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch OMIM:242900 schimke immunoosseous dysplasia semapv:UnspecifiedMatching MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:UnspecifiedMatching MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch SCTID:723995003 semapv:UnspecifiedMatching MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch UMLS:C0877024 semapv:UnspecifiedMatching MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch mesh:C536629 semapv:UnspecifiedMatching MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:exactMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:UnspecifiedMatching MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:exactMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:UnspecifiedMatching MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:exactMatch UMLS:C1855739 semapv:UnspecifiedMatching MONDO:0009460 indolylacroyl glycinuria with intellectual disability skos:exactMatch OMIM:243050 indolylacroyl glycinuria with mental retardation semapv:UnspecifiedMatching MONDO:0009460 indolylacroyl glycinuria with intellectual disability skos:exactMatch UMLS:C1855738 semapv:UnspecifiedMatching MONDO:0009460 indolylacroyl glycinuria with intellectual disability skos:exactMatch mesh:C565466 semapv:UnspecifiedMatching MONDO:0009461 spermatogenic failure 5 skos:exactMatch DOID:0070183 spermatogenic failure 5 semapv:UnspecifiedMatching MONDO:0009461 spermatogenic failure 5 skos:exactMatch OMIM:243060 spermatogenic failure 5 semapv:UnspecifiedMatching MONDO:0009461 spermatogenic failure 5 skos:exactMatch Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:UnspecifiedMatching MONDO:0009461 spermatogenic failure 5 skos:exactMatch SCTID:236806004 semapv:UnspecifiedMatching MONDO:0009461 spermatogenic failure 5 skos:exactMatch UMLS:C0403812 semapv:UnspecifiedMatching MONDO:0009461 spermatogenic failure 5 skos:exactMatch mesh:C562903 semapv:UnspecifiedMatching MONDO:0009462 inosine phosphorylase deficiency, immune defect due to skos:exactMatch OMIM:243080 inosine phosphorylase deficiency, immune defect due to semapv:UnspecifiedMatching MONDO:0009462 inosine phosphorylase deficiency, immune defect due to skos:exactMatch UMLS:C1855737 semapv:UnspecifiedMatching MONDO:0009462 inosine phosphorylase deficiency, immune defect due to skos:exactMatch mesh:C565465 semapv:UnspecifiedMatching MONDO:0009463 internal carotid arteries, hypoplasia of skos:exactMatch OMIM:243100 internal carotid arteries, hypoplasia of semapv:UnspecifiedMatching MONDO:0009464 immunodeficiency with defective T-cell response to interleukin 1 skos:exactMatch OMIM:243110 immunodeficiency with defective t-cell response to interleukin 1 semapv:UnspecifiedMatching MONDO:0009464 immunodeficiency with defective T-cell response to interleukin 1 skos:exactMatch UMLS:C1855735 semapv:UnspecifiedMatching MONDO:0009465 multiple intestinal atresia skos:exactMatch DOID:14671 multiple intestinal atresia semapv:UnspecifiedMatching MONDO:0009465 multiple intestinal atresia skos:exactMatch Orphanet:2300 Multiple intestinal atresia semapv:UnspecifiedMatching MONDO:0009465 multiple intestinal atresia skos:exactMatch SCTID:95472001 semapv:UnspecifiedMatching MONDO:0009465 multiple intestinal atresia skos:exactMatch mesh:C562441 semapv:UnspecifiedMatching MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:exactMatch OMIM:243185 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth semapv:UnspecifiedMatching MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:exactMatch UMLS:C1855732 semapv:UnspecifiedMatching MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:exactMatch mesh:C538341 semapv:UnspecifiedMatching MONDO:0009468 pseudotumor cerebri skos:exactMatch DOID:11459 pseudotumor cerebri semapv:UnspecifiedMatching MONDO:0009468 pseudotumor cerebri skos:exactMatch NCIT:C85035 Pseudotumor Cerebri semapv:UnspecifiedMatching MONDO:0009468 pseudotumor cerebri skos:exactMatch OMIM:243200 intracranial hypertension, idiopathic semapv:UnspecifiedMatching MONDO:0009468 pseudotumor cerebri skos:exactMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:UnspecifiedMatching MONDO:0009468 pseudotumor cerebri skos:exactMatch SCTID:68267002 semapv:UnspecifiedMatching MONDO:0009468 pseudotumor cerebri skos:exactMatch UMLS:C0033845 semapv:UnspecifiedMatching MONDO:0009468 pseudotumor cerebri skos:exactMatch mesh:D011559 semapv:UnspecifiedMatching MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:exactMatch DOID:0070231 benign recurrent intrahepatic cholestasis 1 semapv:UnspecifiedMatching MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:exactMatch OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 semapv:UnspecifiedMatching MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:exactMatch Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 semapv:UnspecifiedMatching MONDO:0009470 Baraitser-Winter syndrome 1 skos:exactMatch DOID:0081112 Baraitser-Winter syndrome 1 semapv:UnspecifiedMatching MONDO:0009470 Baraitser-Winter syndrome 1 skos:exactMatch OMIM:243310 baraitser-winter syndrome 1 semapv:UnspecifiedMatching MONDO:0009470 Baraitser-Winter syndrome 1 skos:exactMatch UMLS:C1855722 semapv:UnspecifiedMatching MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of skos:exactMatch OMIM:243320 intrinsic factor and r binder, combined congenital deficiency of semapv:UnspecifiedMatching MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of skos:exactMatch UMLS:C1855721 semapv:UnspecifiedMatching MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of skos:exactMatch mesh:C565461 semapv:UnspecifiedMatching MONDO:0009472 acetylation, slow skos:exactMatch OMIM:243400 acetylation, slow semapv:UnspecifiedMatching MONDO:0009473 isotretinoin-like syndrome skos:exactMatch OMIM:243440 isotretinoin embryopathy-like syndrome semapv:UnspecifiedMatching MONDO:0009473 isotretinoin-like syndrome skos:exactMatch Orphanet:2306 Isotretinoin-like syndrome semapv:UnspecifiedMatching MONDO:0009473 isotretinoin-like syndrome skos:exactMatch SCTID:722006004 semapv:UnspecifiedMatching MONDO:0009473 isotretinoin-like syndrome skos:exactMatch mesh:C535542 semapv:UnspecifiedMatching MONDO:0009474 isovaleric acid, inability to smell skos:exactMatch OMIM:243450 isovaleric acid, inability to smell semapv:UnspecifiedMatching MONDO:0009475 isovaleric acidemia skos:exactMatch DOID:14753 isovaleric acidemia semapv:UnspecifiedMatching MONDO:0009475 isovaleric acidemia skos:exactMatch ICD10CM:E71.110 Isovaleric acidemia semapv:UnspecifiedMatching MONDO:0009475 isovaleric acidemia skos:exactMatch NCIT:C98964 Isovaleric Acidemia semapv:UnspecifiedMatching MONDO:0009475 isovaleric acidemia skos:exactMatch OMIM:243500 isovaleric acidemia semapv:UnspecifiedMatching MONDO:0009475 isovaleric acidemia skos:exactMatch Orphanet:33 Isovaleric acidemia semapv:UnspecifiedMatching MONDO:0009475 isovaleric acidemia skos:exactMatch SCTID:87827003 semapv:UnspecifiedMatching MONDO:0009475 isovaleric acidemia skos:exactMatch UMLS:C0268575 semapv:UnspecifiedMatching MONDO:0009475 isovaleric acidemia skos:exactMatch mesh:C538167 semapv:UnspecifiedMatching MONDO:0009476 atresia of small intestine skos:exactMatch NCIT:C98828 Small Intestine Atresia semapv:UnspecifiedMatching MONDO:0009476 atresia of small intestine skos:exactMatch OMIM:243600 jejunal atresia semapv:UnspecifiedMatching MONDO:0009476 atresia of small intestine skos:exactMatch Orphanet:1201 Small bowel atresia semapv:UnspecifiedMatching MONDO:0009476 atresia of small intestine skos:exactMatch UMLS:C0266172 semapv:UnspecifiedMatching MONDO:0009476 atresia of small intestine skos:exactMatch mesh:C538260 semapv:UnspecifiedMatching MONDO:0009477 Stromme syndrome skos:exactMatch DOID:0110595 Stromme syndrome semapv:UnspecifiedMatching MONDO:0009477 Stromme syndrome skos:exactMatch OMIM:243605 stromme syndrome semapv:UnspecifiedMatching MONDO:0009477 Stromme syndrome skos:exactMatch Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome semapv:UnspecifiedMatching MONDO:0009477 Stromme syndrome skos:exactMatch Orphanet:506307 Stromme syndrome semapv:UnspecifiedMatching MONDO:0009477 Stromme syndrome skos:exactMatch UMLS:C1855705 semapv:UnspecifiedMatching MONDO:0009477 Stromme syndrome skos:exactMatch mesh:C565460 semapv:UnspecifiedMatching MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:exactMatch DOID:0080594 hyper IgE recurrent infection syndrome 2 semapv:UnspecifiedMatching MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:exactMatch NCIT:C126343 DOCK8 Deficiency semapv:UnspecifiedMatching MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:exactMatch OMIM:243700 hyper-ige syndrome 2, autosomal recessive, with recurrent infections semapv:UnspecifiedMatching MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:exactMatch Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency semapv:UnspecifiedMatching MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:exactMatch UMLS:C4722305 semapv:UnspecifiedMatching MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch DOID:14694 Johanson-Blizzard syndrome semapv:UnspecifiedMatching MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch OMIM:243800 johanson-blizzard syndrome semapv:UnspecifiedMatching MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:UnspecifiedMatching MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch SCTID:75979009 semapv:UnspecifiedMatching MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch UMLS:C0175692 semapv:UnspecifiedMatching MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch mesh:C535880 semapv:UnspecifiedMatching MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch mesh:C564907 semapv:UnspecifiedMatching MONDO:0009480 Joubert syndrome with oculorenal defect skos:exactMatch OMIM:243910 arima syndrome semapv:UnspecifiedMatching MONDO:0009480 Joubert syndrome with oculorenal defect skos:exactMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:UnspecifiedMatching MONDO:0009480 Joubert syndrome with oculorenal defect skos:exactMatch SCTID:721862000 semapv:UnspecifiedMatching MONDO:0009480 Joubert syndrome with oculorenal defect skos:exactMatch UMLS:C1855675 semapv:UnspecifiedMatching MONDO:0009480 Joubert syndrome with oculorenal defect skos:exactMatch mesh:C537430 semapv:UnspecifiedMatching MONDO:0009481 Jumping Frenchmen of Maine skos:exactMatch OMIM:244100 jumping frenchmen of maine semapv:UnspecifiedMatching MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:exactMatch DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia semapv:UnspecifiedMatching MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:exactMatch OMIM:244200 hypogonadotropic hypogonadism 3 with or without anosmia semapv:UnspecifiedMatching MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:exactMatch UMLS:C3550478 semapv:UnspecifiedMatching MONDO:0009483 Kapur-Toriello syndrome skos:exactMatch OMIM:244300 kapur-toriello syndrome semapv:UnspecifiedMatching MONDO:0009483 Kapur-Toriello syndrome skos:exactMatch Orphanet:2328 Kapur-Toriello syndrome semapv:UnspecifiedMatching MONDO:0009483 Kapur-Toriello syndrome skos:exactMatch SCTID:722031003 semapv:UnspecifiedMatching MONDO:0009483 Kapur-Toriello syndrome skos:exactMatch UMLS:C0796005 semapv:UnspecifiedMatching MONDO:0009483 Kapur-Toriello syndrome skos:exactMatch mesh:C537008 semapv:UnspecifiedMatching MONDO:0009484 primary ciliary dyskinesia 1 skos:exactMatch DOID:0110594 primary ciliary dyskinesia 1 semapv:UnspecifiedMatching MONDO:0009484 primary ciliary dyskinesia 1 skos:exactMatch NCIT:C128117 Primary Ciliary Dyskinesia 1 semapv:UnspecifiedMatching MONDO:0009484 primary ciliary dyskinesia 1 skos:exactMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:UnspecifiedMatching MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:exactMatch DOID:0111456 Kaufman oculocerebrofacial syndrome semapv:UnspecifiedMatching MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:exactMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:UnspecifiedMatching MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:exactMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:UnspecifiedMatching MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:exactMatch SCTID:722056009 semapv:UnspecifiedMatching MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:exactMatch UMLS:C1855663 semapv:UnspecifiedMatching MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:exactMatch mesh:C537013 semapv:UnspecifiedMatching MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:exactMatch DOID:0080722 Kenny-Caffey syndrome type 1 semapv:UnspecifiedMatching MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:exactMatch NCIT:C130992 Kenny-Caffey Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:exactMatch OMIM:244460 kenny-caffey syndrome, iia 1 semapv:UnspecifiedMatching MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:exactMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:UnspecifiedMatching MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:exactMatch UMLS:C1855648 semapv:UnspecifiedMatching MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:exactMatch mesh:C537021 semapv:UnspecifiedMatching MONDO:0009487 keratoconus and congenital hip dysplasia skos:exactMatch OMIM:244510 keratoconus and congenital hip dysplasia semapv:UnspecifiedMatching MONDO:0009487 keratoconus and congenital hip dysplasia skos:exactMatch UMLS:C1855647 semapv:UnspecifiedMatching MONDO:0009487 keratoconus and congenital hip dysplasia skos:exactMatch mesh:C565456 semapv:UnspecifiedMatching MONDO:0009488 keratoconus posticus circumscriptus skos:exactMatch OMIM:244600 keratoconus posticus circumscriptus semapv:UnspecifiedMatching MONDO:0009488 keratoconus posticus circumscriptus skos:exactMatch UMLS:C1855645 semapv:UnspecifiedMatching MONDO:0009488 keratoconus posticus circumscriptus skos:exactMatch mesh:C536151 semapv:UnspecifiedMatching MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:exactMatch OMIM:244850 palmoplantar keratoderma, norrbotten recessive iia semapv:UnspecifiedMatching MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:exactMatch Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type semapv:UnspecifiedMatching MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:exactMatch SCTID:717228004 semapv:UnspecifiedMatching MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:exactMatch mesh:C565454 semapv:UnspecifiedMatching MONDO:0009490 Papillon-Lefevre disease skos:exactMatch DOID:3389 Papillon-Lefevre disease semapv:UnspecifiedMatching MONDO:0009490 Papillon-Lefevre disease skos:exactMatch NCIT:C84992 Papillon-Lefevre Syndrome semapv:UnspecifiedMatching MONDO:0009490 Papillon-Lefevre disease skos:exactMatch OMIM:245000 papillon-lefevre syndrome semapv:UnspecifiedMatching MONDO:0009490 Papillon-Lefevre disease skos:exactMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:UnspecifiedMatching MONDO:0009490 Papillon-Lefevre disease skos:exactMatch SCTID:40158001 semapv:UnspecifiedMatching MONDO:0009490 Papillon-Lefevre disease skos:exactMatch UMLS:C0030360 semapv:UnspecifiedMatching MONDO:0009490 Papillon-Lefevre disease skos:exactMatch mesh:D010214 semapv:UnspecifiedMatching MONDO:0009491 Haim-Munk syndrome skos:exactMatch OMIM:245010 haim-munk syndrome semapv:UnspecifiedMatching MONDO:0009491 Haim-Munk syndrome skos:exactMatch Orphanet:2342 Haim-Munk syndrome semapv:UnspecifiedMatching MONDO:0009491 Haim-Munk syndrome skos:exactMatch SCTID:719973009 semapv:UnspecifiedMatching MONDO:0009491 Haim-Munk syndrome skos:exactMatch UMLS:C1855627 semapv:UnspecifiedMatching MONDO:0009491 Haim-Munk syndrome skos:exactMatch mesh:C537627 semapv:UnspecifiedMatching MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:UnspecifiedMatching MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:UnspecifiedMatching MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch SCTID:238004006 semapv:UnspecifiedMatching MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch mesh:C537527 semapv:UnspecifiedMatching MONDO:0009493 Richards-Rundle syndrome skos:exactMatch OMIM:245100 richards-rundle syndrome semapv:UnspecifiedMatching MONDO:0009493 Richards-Rundle syndrome skos:exactMatch Orphanet:1399 Richards-Rundle syndrome semapv:UnspecifiedMatching MONDO:0009493 Richards-Rundle syndrome skos:exactMatch SCTID:715415005 semapv:UnspecifiedMatching MONDO:0009493 Richards-Rundle syndrome skos:exactMatch UMLS:C0796136 semapv:UnspecifiedMatching MONDO:0009493 Richards-Rundle syndrome skos:exactMatch mesh:C535674 semapv:UnspecifiedMatching MONDO:0009495 Keutel syndrome skos:exactMatch OMIM:245150 keutel syndrome semapv:UnspecifiedMatching MONDO:0009495 Keutel syndrome skos:exactMatch Orphanet:85202 Keutel syndrome semapv:UnspecifiedMatching MONDO:0009495 Keutel syndrome skos:exactMatch SCTID:724208006 semapv:UnspecifiedMatching MONDO:0009495 Keutel syndrome skos:exactMatch UMLS:C1855607 semapv:UnspecifiedMatching MONDO:0009495 Keutel syndrome skos:exactMatch mesh:C536167 semapv:UnspecifiedMatching MONDO:0009496 Kniest-like dysplasia with pursed lips and ectopia lentis skos:exactMatch OMIM:245160 kniest-like dysplasia with pursed lips and ectopia lentis semapv:UnspecifiedMatching MONDO:0009496 Kniest-like dysplasia with pursed lips and ectopia lentis skos:exactMatch UMLS:C1855606 semapv:UnspecifiedMatching MONDO:0009497 Kifafa seizure disorder skos:exactMatch OMIM:245180 kifafa seizure disorder semapv:UnspecifiedMatching MONDO:0009497 Kifafa seizure disorder skos:exactMatch UMLS:C0796010 semapv:UnspecifiedMatching MONDO:0009497 Kifafa seizure disorder skos:exactMatch mesh:C537708 semapv:UnspecifiedMatching MONDO:0009498 lethal Kniest-like dysplasia skos:exactMatch OMIM:245190 kniest-like dysplasia, lethal semapv:UnspecifiedMatching MONDO:0009498 lethal Kniest-like dysplasia skos:exactMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:UnspecifiedMatching MONDO:0009498 lethal Kniest-like dysplasia skos:exactMatch UMLS:C1855605 semapv:UnspecifiedMatching MONDO:0009498 lethal Kniest-like dysplasia skos:exactMatch mesh:C537208 semapv:UnspecifiedMatching MONDO:0009499 Krabbe disease skos:exactMatch DOID:10587 Krabbe disease semapv:UnspecifiedMatching MONDO:0009499 Krabbe disease skos:exactMatch ICD10CM:E75.23 Krabbe disease semapv:UnspecifiedMatching MONDO:0009499 Krabbe disease skos:exactMatch NCIT:C61254 Krabbe Disease semapv:UnspecifiedMatching MONDO:0009499 Krabbe disease skos:exactMatch OMIM:245200 krabbe disease semapv:UnspecifiedMatching MONDO:0009499 Krabbe disease skos:exactMatch Orphanet:487 Krabbe disease semapv:UnspecifiedMatching MONDO:0009499 Krabbe disease skos:exactMatch SCTID:189979005 semapv:UnspecifiedMatching MONDO:0009499 Krabbe disease skos:exactMatch UMLS:C0023521 semapv:UnspecifiedMatching MONDO:0009499 Krabbe disease skos:exactMatch mesh:D007965 semapv:UnspecifiedMatching MONDO:0009500 kuru, susceptibility to skos:exactMatch OMIM:245300 kuru, susceptibility to semapv:UnspecifiedMatching MONDO:0009500 kuru, susceptibility to skos:exactMatch UMLS:C1855588 semapv:UnspecifiedMatching MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:exactMatch OMIM:245340 erythrocyte lactate transporter defect semapv:UnspecifiedMatching MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:exactMatch Orphanet:171690 Metabolic myopathy due to lactate transporter defect semapv:UnspecifiedMatching MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:exactMatch SCTID:766715000 semapv:UnspecifiedMatching MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:exactMatch UMLS:C1855577 semapv:UnspecifiedMatching MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:exactMatch mesh:C565449 semapv:UnspecifiedMatching MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:exactMatch OMIM:245348 pyruvate dehydrogenase e2 deficiency semapv:UnspecifiedMatching MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:exactMatch Orphanet:79244 Pyruvate dehydrogenase E2 deficiency semapv:UnspecifiedMatching MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:exactMatch UMLS:C1855565 semapv:UnspecifiedMatching MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:exactMatch mesh:C565448 semapv:UnspecifiedMatching MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:exactMatch OMIM:245349 pyruvate dehydrogenase e3-binding protein deficiency semapv:UnspecifiedMatching MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:exactMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:UnspecifiedMatching MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:exactMatch UMLS:C1855553 semapv:UnspecifiedMatching MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:exactMatch mesh:C565447 semapv:UnspecifiedMatching MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:exactMatch DOID:0080128 mitochondrial DNA depletion syndrome 9 semapv:UnspecifiedMatching MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:exactMatch OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic iia with methylmalonic aciduria) semapv:UnspecifiedMatching MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:exactMatch Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria semapv:UnspecifiedMatching MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:exactMatch SCTID:715338007 semapv:UnspecifiedMatching MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:exactMatch mesh:C538134 semapv:UnspecifiedMatching MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:exactMatch mesh:C566885 semapv:UnspecifiedMatching MONDO:0009505 lactic aciduria due to D-lactic acid skos:exactMatch OMIM:245450 d-lactic aciduria with gout semapv:UnspecifiedMatching MONDO:0009505 lactic aciduria due to D-lactic acid skos:exactMatch UMLS:C5193006 semapv:UnspecifiedMatching MONDO:0009505 lactic aciduria due to D-lactic acid skos:exactMatch mesh:C565446 semapv:UnspecifiedMatching MONDO:0009506 specific granule deficiency skos:exactMatch OMIMPS:245480 semapv:UnspecifiedMatching MONDO:0009506 specific granule deficiency skos:exactMatch Orphanet:169142 Recurrent infection due to specific granule deficiency semapv:UnspecifiedMatching MONDO:0009506 specific granule deficiency skos:exactMatch SCTID:234587000 semapv:UnspecifiedMatching MONDO:0009506 specific granule deficiency skos:exactMatch UMLS:C0398593 semapv:UnspecifiedMatching MONDO:0009506 specific granule deficiency skos:exactMatch mesh:C562873 semapv:UnspecifiedMatching MONDO:0009507 Lambert syndrome skos:exactMatch OMIM:245550 lambert syndrome semapv:UnspecifiedMatching MONDO:0009507 Lambert syndrome skos:exactMatch Orphanet:1296 Lambert syndrome semapv:UnspecifiedMatching MONDO:0009507 Lambert syndrome skos:exactMatch SCTID:732961003 semapv:UnspecifiedMatching MONDO:0009507 Lambert syndrome skos:exactMatch UMLS:C1855551 semapv:UnspecifiedMatching MONDO:0009507 Lambert syndrome skos:exactMatch mesh:C538396 semapv:UnspecifiedMatching MONDO:0009508 Lambotte syndrome skos:exactMatch OMIM:245552 lambotte syndrome semapv:UnspecifiedMatching MONDO:0009508 Lambotte syndrome skos:exactMatch UMLS:C1855550 semapv:UnspecifiedMatching MONDO:0009508 Lambotte syndrome skos:exactMatch mesh:C537549 semapv:UnspecifiedMatching MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch DOID:2538 Landau-Kleffner syndrome semapv:UnspecifiedMatching MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch NCIT:C84806 Landau-Kleffner Syndrome semapv:UnspecifiedMatching MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:UnspecifiedMatching MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch Orphanet:98818 Landau-Kleffner syndrome semapv:UnspecifiedMatching MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch SCTID:230438007 semapv:UnspecifiedMatching MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch UMLS:C0282512 semapv:UnspecifiedMatching MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch mesh:D018887 semapv:UnspecifiedMatching MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:exactMatch DOID:0080575 Larsen-like syndrome B3GAT3 type semapv:UnspecifiedMatching MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:exactMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:UnspecifiedMatching MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:exactMatch Orphanet:284139 Larsen-like syndrome, B3GAT3 type semapv:UnspecifiedMatching MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:exactMatch mesh:C537874 semapv:UnspecifiedMatching MONDO:0009512 lethal Larsen-like syndrome skos:exactMatch OMIM:245650 larsen-like syndrome, lethal iia semapv:UnspecifiedMatching MONDO:0009512 lethal Larsen-like syndrome skos:exactMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:UnspecifiedMatching MONDO:0009512 lethal Larsen-like syndrome skos:exactMatch SCTID:719409004 semapv:UnspecifiedMatching MONDO:0009512 lethal Larsen-like syndrome skos:exactMatch UMLS:C1855535 semapv:UnspecifiedMatching MONDO:0009512 lethal Larsen-like syndrome skos:exactMatch mesh:C537872 semapv:UnspecifiedMatching MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:exactMatch OMIM:245660 epidermolysis bullosa, junctional 2c, laryngoonychocutaneous semapv:UnspecifiedMatching MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:exactMatch Orphanet:2407 Laryngo-onycho-cutaneous syndrome semapv:UnspecifiedMatching MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:exactMatch SCTID:722675000 semapv:UnspecifiedMatching MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:exactMatch UMLS:C1328355 semapv:UnspecifiedMatching MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:exactMatch mesh:C537032 semapv:UnspecifiedMatching MONDO:0009514 Laurence-Moon syndrome skos:exactMatch DOID:1930 Laurence-Moon syndrome semapv:UnspecifiedMatching MONDO:0009514 Laurence-Moon syndrome skos:exactMatch NCIT:C34760 Laurence-Moon Syndrome semapv:UnspecifiedMatching MONDO:0009514 Laurence-Moon syndrome skos:exactMatch OMIM:245800 laurence-moon syndrome semapv:UnspecifiedMatching MONDO:0009514 Laurence-Moon syndrome skos:exactMatch Orphanet:2377 Laurence-Moon syndrome semapv:UnspecifiedMatching MONDO:0009514 Laurence-Moon syndrome skos:exactMatch SCTID:232059000 semapv:UnspecifiedMatching MONDO:0009514 Laurence-Moon syndrome skos:exactMatch UMLS:C0023138 semapv:UnspecifiedMatching MONDO:0009514 Laurence-Moon syndrome skos:exactMatch mesh:D007849 semapv:UnspecifiedMatching MONDO:0009515 Norum disease skos:exactMatch DOID:1391 Norum disease semapv:UnspecifiedMatching MONDO:0009515 Norum disease skos:exactMatch NCIT:C84813 Lecithin Acyltransferase Deficiency semapv:UnspecifiedMatching MONDO:0009515 Norum disease skos:exactMatch OMIM:245900 lecithin:cholesterol acyltransferase deficiency semapv:UnspecifiedMatching MONDO:0009515 Norum disease skos:exactMatch Orphanet:79293 Familial LCAT deficiency semapv:UnspecifiedMatching MONDO:0009515 Norum disease skos:exactMatch SCTID:238091006 semapv:UnspecifiedMatching MONDO:0009516 absence deformity of leg-cataract syndrome skos:exactMatch OMIM:246000 leg, absence deformity of, with congenital cataract semapv:UnspecifiedMatching MONDO:0009516 absence deformity of leg-cataract syndrome skos:exactMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:UnspecifiedMatching MONDO:0009516 absence deformity of leg-cataract syndrome skos:exactMatch UMLS:C1855523 semapv:UnspecifiedMatching MONDO:0009516 absence deformity of leg-cataract syndrome skos:exactMatch mesh:C565442 semapv:UnspecifiedMatching MONDO:0009517 Donohue syndrome skos:exactMatch DOID:0050470 Donohue syndrome semapv:UnspecifiedMatching MONDO:0009517 Donohue syndrome skos:exactMatch NCIT:C84676 Donohue Syndrome semapv:UnspecifiedMatching MONDO:0009517 Donohue syndrome skos:exactMatch OMIM:246200 donohue syndrome semapv:UnspecifiedMatching MONDO:0009517 Donohue syndrome skos:exactMatch Orphanet:508 Leprechaunism semapv:UnspecifiedMatching MONDO:0009517 Donohue syndrome skos:exactMatch SCTID:111307005 semapv:UnspecifiedMatching MONDO:0009517 Donohue syndrome skos:exactMatch UMLS:C0265344 semapv:UnspecifiedMatching MONDO:0009517 Donohue syndrome skos:exactMatch mesh:D056731 semapv:UnspecifiedMatching MONDO:0009518 leprosy, susceptibility to, 3 skos:exactMatch OMIM:246300 leprosy, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0009519 letterer-Siwe disease skos:exactMatch NCIT:C3160 Letterer-Siwe Disease semapv:UnspecifiedMatching MONDO:0009519 letterer-Siwe disease skos:exactMatch OMIM:246400 letterer-siwe disease semapv:UnspecifiedMatching MONDO:0009519 letterer-Siwe disease skos:exactMatch UMLS:C0023381 semapv:UnspecifiedMatching MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch NCIT:C84523 HMG-CoA Lyase Deficiency semapv:UnspecifiedMatching MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:UnspecifiedMatching MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:UnspecifiedMatching MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch SCTID:410059004 semapv:UnspecifiedMatching MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch UMLS:C0268601 semapv:UnspecifiedMatching MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch mesh:C538324 semapv:UnspecifiedMatching MONDO:0009521 leukemia, acute myelocytic, with polyposis coli and colon cancer skos:exactMatch OMIM:246470 leukemia, acute myelocytic, with polyposis coli and colon cancer semapv:UnspecifiedMatching MONDO:0009521 leukemia, acute myelocytic, with polyposis coli and colon cancer skos:exactMatch UMLS:C1855505 semapv:UnspecifiedMatching MONDO:0009521 leukemia, acute myelocytic, with polyposis coli and colon cancer skos:exactMatch mesh:C565441 semapv:UnspecifiedMatching MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:exactMatch OMIM:246500 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis semapv:UnspecifiedMatching MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:exactMatch Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:UnspecifiedMatching MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:exactMatch SCTID:239032007 semapv:UnspecifiedMatching MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:exactMatch UMLS:C1855504 semapv:UnspecifiedMatching MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:exactMatch mesh:C565440 semapv:UnspecifiedMatching MONDO:0009523 Lichtenstein syndrome skos:exactMatch OMIM:246550 lichtenstein syndrome semapv:UnspecifiedMatching MONDO:0009523 Lichtenstein syndrome skos:exactMatch Orphanet:2390 Lichtenstein syndrome semapv:UnspecifiedMatching MONDO:0009523 Lichtenstein syndrome skos:exactMatch SCTID:763668009 semapv:UnspecifiedMatching MONDO:0009523 Lichtenstein syndrome skos:exactMatch UMLS:C1855502 semapv:UnspecifiedMatching MONDO:0009523 Lichtenstein syndrome skos:exactMatch mesh:C535894 semapv:UnspecifiedMatching MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:exactMatch OMIM:246555 limb defects, distal transverse, with mental retardation and spasticity semapv:UnspecifiedMatching MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:exactMatch Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome semapv:UnspecifiedMatching MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:exactMatch SCTID:763743003 semapv:UnspecifiedMatching MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:exactMatch UMLS:C1855501 semapv:UnspecifiedMatching MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:exactMatch mesh:C537446 semapv:UnspecifiedMatching MONDO:0009525 split hand-foot malformation 3 skos:exactMatch DOID:0090025 split hand-foot malformation 3 semapv:UnspecifiedMatching MONDO:0009525 split hand-foot malformation 3 skos:exactMatch NCIT:C75121 Split-Hand/Foot Malformation Type 3 semapv:UnspecifiedMatching MONDO:0009525 split hand-foot malformation 3 skos:exactMatch OMIM:246560 split-hand/foot malformation 3 semapv:UnspecifiedMatching MONDO:0009525 split hand-foot malformation 3 skos:exactMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:UnspecifiedMatching MONDO:0009525 split hand-foot malformation 3 skos:exactMatch SCTID:722429003 semapv:UnspecifiedMatching MONDO:0009525 split hand-foot malformation 3 skos:exactMatch mesh:C565437 semapv:UnspecifiedMatching MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome skos:exactMatch OMIM:246570 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome semapv:UnspecifiedMatching MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome skos:exactMatch UMLS:C1855499 semapv:UnspecifiedMatching MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome skos:exactMatch mesh:C565436 semapv:UnspecifiedMatching MONDO:0009527 lipase deficiency, combined skos:exactMatch DOID:0111422 familial lipase maturation factor 1 deficiency semapv:UnspecifiedMatching MONDO:0009527 lipase deficiency, combined skos:exactMatch NCIT:C126558 Combined Lipase Deficiency semapv:UnspecifiedMatching MONDO:0009527 lipase deficiency, combined skos:exactMatch OMIM:246650 lipase deficiency, combined semapv:UnspecifiedMatching MONDO:0009527 lipase deficiency, combined skos:exactMatch Orphanet:535453 Familial lipase maturation factor 1 deficiency semapv:UnspecifiedMatching MONDO:0009527 lipase deficiency, combined skos:exactMatch UMLS:C1855498 semapv:UnspecifiedMatching MONDO:0009527 lipase deficiency, combined skos:exactMatch mesh:C535904 semapv:UnspecifiedMatching MONDO:0009528 chylomicron retention disease skos:exactMatch DOID:0060357 chylomicron retention disease semapv:UnspecifiedMatching MONDO:0009528 chylomicron retention disease skos:exactMatch OMIM:246700 chylomicron retention disease semapv:UnspecifiedMatching MONDO:0009528 chylomicron retention disease skos:exactMatch Orphanet:71 Chylomicron retention disease semapv:UnspecifiedMatching MONDO:0009528 chylomicron retention disease skos:exactMatch SCTID:702364003 semapv:UnspecifiedMatching MONDO:0009528 chylomicron retention disease skos:exactMatch UMLS:C0795956 semapv:UnspecifiedMatching MONDO:0009528 chylomicron retention disease skos:exactMatch mesh:C535460 semapv:UnspecifiedMatching MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:exactMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:exactMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:UnspecifiedMatching MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:exactMatch SCTID:29914000 semapv:UnspecifiedMatching MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:exactMatch UMLS:CN043137 semapv:UnspecifiedMatching MONDO:0009530 lipoid proteinosis skos:exactMatch DOID:14498 lipoid proteinosis semapv:UnspecifiedMatching MONDO:0009530 lipoid proteinosis skos:exactMatch NCIT:C84829 Lipoid Proteinosis of Urbach and Wiethe semapv:UnspecifiedMatching MONDO:0009530 lipoid proteinosis skos:exactMatch OMIM:247100 lipoid proteinosis of urbach and wiethe semapv:UnspecifiedMatching MONDO:0009530 lipoid proteinosis skos:exactMatch Orphanet:530 Lipoid proteinosis semapv:UnspecifiedMatching MONDO:0009530 lipoid proteinosis skos:exactMatch SCTID:38692000 semapv:UnspecifiedMatching MONDO:0009530 lipoid proteinosis skos:exactMatch UMLS:C0023795 semapv:UnspecifiedMatching MONDO:0009530 lipoid proteinosis skos:exactMatch mesh:D008065 semapv:UnspecifiedMatching MONDO:0009531 obsolete lip prints skos:exactMatch OMIM:247150 lip prints semapv:UnspecifiedMatching MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch DOID:0060469 Miller-Dieker lissencephaly syndrome semapv:UnspecifiedMatching MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch NCIT:C124852 Miller-Dieker Syndrome semapv:UnspecifiedMatching MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch OMIM:247200 miller-dieker lissencephaly syndrome semapv:UnspecifiedMatching MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch Orphanet:531 Miller-Dieker syndrome semapv:UnspecifiedMatching MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch SCTID:253148005 semapv:UnspecifiedMatching MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch UMLS:C0265219 semapv:UnspecifiedMatching MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:exactMatch OMIM:247410 lymphedema-hypoparathyroidism syndrome semapv:UnspecifiedMatching MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:exactMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:UnspecifiedMatching MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:exactMatch SCTID:721083007 semapv:UnspecifiedMatching MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:exactMatch UMLS:C1855477 semapv:UnspecifiedMatching MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:exactMatch mesh:C535769 semapv:UnspecifiedMatching MONDO:0009534 chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation skos:exactMatch OMIM:247430 lymphoblastic transformation, inhibition of semapv:UnspecifiedMatching MONDO:0009534 chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation skos:exactMatch mesh:C565433 semapv:UnspecifiedMatching MONDO:0009535 obsolete lymphedema, congenital recessive skos:exactMatch OMIM:247440 semapv:UnspecifiedMatching MONDO:0009535 obsolete lymphedema, congenital recessive skos:exactMatch UMLS:C1855475 semapv:UnspecifiedMatching MONDO:0009535 obsolete lymphedema, congenital recessive skos:exactMatch mesh:C565432 semapv:UnspecifiedMatching MONDO:0009536 chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation skos:exactMatch OMIM:247450 lymphoblastic transformation, intrinsic defect 1n semapv:UnspecifiedMatching MONDO:0009536 chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation skos:exactMatch UMLS:C1855474 semapv:UnspecifiedMatching MONDO:0009536 chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation skos:exactMatch mesh:C565431 semapv:UnspecifiedMatching MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch DOID:0050159 lymphoid interstitial pneumonia semapv:UnspecifiedMatching MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch ICD10CM:J84.2 Lymphoid interstitial pneumonia semapv:UnspecifiedMatching MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch NCIT:C27558 Lymphocytic Interstitial Pneumonia semapv:UnspecifiedMatching MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch OMIM:247610 lymphoid interstitial pneumonia semapv:UnspecifiedMatching MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:UnspecifiedMatching MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch SCTID:44274007 semapv:UnspecifiedMatching MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch UMLS:C0264511 semapv:UnspecifiedMatching MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch mesh:C562489 semapv:UnspecifiedMatching MONDO:0009538 lymphoid system deterioration, progressive skos:exactMatch OMIM:247630 lymphoid system deterioration, progressive semapv:UnspecifiedMatching MONDO:0009538 lymphoid system deterioration, progressive skos:exactMatch UMLS:C1855473 semapv:UnspecifiedMatching MONDO:0009538 lymphoid system deterioration, progressive skos:exactMatch mesh:C565430 semapv:UnspecifiedMatching MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:exactMatch OMIM:247640 lymphoblastic leukemia, acute, with lymphomatous features semapv:UnspecifiedMatching MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:exactMatch UMLS:C1855472 semapv:UnspecifiedMatching MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:exactMatch mesh:C565429 semapv:UnspecifiedMatching MONDO:0009540 chronic mucocutaneous candidiasis due to lymphokine deficiency skos:exactMatch OMIM:247650 lymphokine deficiency semapv:UnspecifiedMatching MONDO:0009540 chronic mucocutaneous candidiasis due to lymphokine deficiency skos:exactMatch UMLS:C1855471 semapv:UnspecifiedMatching MONDO:0009540 chronic mucocutaneous candidiasis due to lymphokine deficiency skos:exactMatch mesh:C565428 semapv:UnspecifiedMatching MONDO:0009541 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis skos:exactMatch OMIM:247800 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis semapv:UnspecifiedMatching MONDO:0009541 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis skos:exactMatch UMLS:C1855470 semapv:UnspecifiedMatching MONDO:0009541 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis skos:exactMatch mesh:C565427 semapv:UnspecifiedMatching MONDO:0009542 lysine malabsorption syndrome skos:exactMatch OMIM:247950 lysine malabsorption syndrome semapv:UnspecifiedMatching MONDO:0009542 lysine malabsorption syndrome skos:exactMatch UMLS:C0796023 semapv:UnspecifiedMatching MONDO:0009542 lysine malabsorption syndrome skos:exactMatch mesh:C563080 semapv:UnspecifiedMatching MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:exactMatch OMIM:247990 macdermot-winter syndrome semapv:UnspecifiedMatching MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:exactMatch Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome semapv:UnspecifiedMatching MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:exactMatch UMLS:C0796024 semapv:UnspecifiedMatching MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:exactMatch mesh:C537714 semapv:UnspecifiedMatching MONDO:0009544 macrocephaly/megalencephaly syndrome, autosomal recessive skos:exactMatch OMIM:248000 macrocephaly/megalencephaly syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO:0009544 macrocephaly/megalencephaly syndrome, autosomal recessive skos:exactMatch UMLS:C3806412 semapv:UnspecifiedMatching MONDO:0009544 macrocephaly/megalencephaly syndrome, autosomal recessive skos:exactMatch mesh:C537453 semapv:UnspecifiedMatching MONDO:0009545 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance skos:exactMatch OMIM:248010 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance semapv:UnspecifiedMatching MONDO:0009545 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance skos:exactMatch UMLS:C2931597 semapv:UnspecifiedMatching MONDO:0009545 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance skos:exactMatch mesh:C537721 semapv:UnspecifiedMatching MONDO:0009546 macrosomia adiposa congenita skos:exactMatch OMIM:248100 macrosomia adiposa congenita semapv:UnspecifiedMatching MONDO:0009546 macrosomia adiposa congenita skos:exactMatch UMLS:C1855468 semapv:UnspecifiedMatching MONDO:0009546 macrosomia adiposa congenita skos:exactMatch mesh:C565425 semapv:UnspecifiedMatching MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:exactMatch OMIM:248110 macrosomia with microphthalmia, lethal semapv:UnspecifiedMatching MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:exactMatch Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome semapv:UnspecifiedMatching MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:exactMatch UMLS:C1855467 semapv:UnspecifiedMatching MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:exactMatch mesh:C537830 semapv:UnspecifiedMatching MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:exactMatch DOID:0060881 renal hypomagnesemia 5 with ocular involvement semapv:UnspecifiedMatching MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:exactMatch OMIM:248190 hypomagnesemia 5, renal, with or without ocular involvement semapv:UnspecifiedMatching MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:exactMatch Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement semapv:UnspecifiedMatching MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:exactMatch mesh:C536148 semapv:UnspecifiedMatching MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:exactMatch OMIM:248200 stargardt disease 1 semapv:UnspecifiedMatching MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:exactMatch Orphanet:364055 Severe early-childhood-onset retinal dystrophy semapv:UnspecifiedMatching MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:exactMatch SCTID:716663009 semapv:UnspecifiedMatching MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:exactMatch UMLS:C1855465 semapv:UnspecifiedMatching MONDO:0009550 renal hypomagnesemia 3 skos:exactMatch DOID:0060880 renal hypomagnesemia 3 semapv:UnspecifiedMatching MONDO:0009550 renal hypomagnesemia 3 skos:exactMatch OMIM:248250 hypomagnesemia 3, renal semapv:UnspecifiedMatching MONDO:0009550 renal hypomagnesemia 3 skos:exactMatch Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement semapv:UnspecifiedMatching MONDO:0009550 renal hypomagnesemia 3 skos:exactMatch SCTID:725033008 semapv:UnspecifiedMatching MONDO:0009550 renal hypomagnesemia 3 skos:exactMatch mesh:C537153 semapv:UnspecifiedMatching MONDO:0009551 magnesium, elevated red cell skos:exactMatch OMIM:248260 magnesium, elevated red cell semapv:UnspecifiedMatching MONDO:0009552 mal de Meleda skos:exactMatch DOID:0060862 mal de Meleda semapv:UnspecifiedMatching MONDO:0009552 mal de Meleda skos:exactMatch OMIM:248300 mal lange meleda semapv:UnspecifiedMatching MONDO:0009552 mal de Meleda skos:exactMatch Orphanet:87503 Mal de Meleda semapv:UnspecifiedMatching MONDO:0009552 mal de Meleda skos:exactMatch SCTID:239069005 semapv:UnspecifiedMatching MONDO:0009552 mal de Meleda skos:exactMatch UMLS:C0025221 semapv:UnspecifiedMatching MONDO:0009553 obsolete Plasmodium falciparum blood infection level skos:exactMatch OMIM:248310 plasmodium falciparum blood infection level semapv:UnspecifiedMatching MONDO:0009554 3MC syndrome 3 skos:exactMatch DOID:0060577 3MC syndrome 3 semapv:UnspecifiedMatching MONDO:0009554 3MC syndrome 3 skos:exactMatch OMIM:248340 3mc syndrome 3 semapv:UnspecifiedMatching MONDO:0009554 3MC syndrome 3 skos:exactMatch UMLS:C0796032 semapv:UnspecifiedMatching MONDO:0009554 3MC syndrome 3 skos:exactMatch mesh:C535704 semapv:UnspecifiedMatching MONDO:0009555 malocclusion and short stature skos:exactMatch OMIM:248350 malocclusion and short stature semapv:UnspecifiedMatching MONDO:0009555 malocclusion and short stature skos:exactMatch UMLS:C1855453 semapv:UnspecifiedMatching MONDO:0009555 malocclusion and short stature skos:exactMatch mesh:C565421 semapv:UnspecifiedMatching MONDO:0009556 malonic aciduria skos:exactMatch OMIM:248360 malonyl-coa decarboxylase deficiency semapv:UnspecifiedMatching MONDO:0009556 malonic aciduria skos:exactMatch Orphanet:943 Malonic aciduria semapv:UnspecifiedMatching MONDO:0009556 malonic aciduria skos:exactMatch SCTID:361203007 semapv:UnspecifiedMatching MONDO:0009556 malonic aciduria skos:exactMatch UMLS:C0342793 semapv:UnspecifiedMatching MONDO:0009556 malonic aciduria skos:exactMatch mesh:C535702 semapv:UnspecifiedMatching MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch DOID:0081128 mandibuloacral dysplasia type A lipodystrophy semapv:UnspecifiedMatching MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch NCIT:C123417 Mandibuloacral Dysplasia with Type A Lipodystrophy semapv:UnspecifiedMatching MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch OMIM:248370 mandibuloacral dysplasia with iia a lipodystrophy semapv:UnspecifiedMatching MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:UnspecifiedMatching MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch SCTID:109419009 semapv:UnspecifiedMatching MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch UMLS:C5399785 semapv:UnspecifiedMatching MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch mesh:C535705 semapv:UnspecifiedMatching MONDO:0009558 Treacher Collins syndrome 3 skos:exactMatch DOID:0080791 Treacher Collins syndrome 3 semapv:UnspecifiedMatching MONDO:0009558 Treacher Collins syndrome 3 skos:exactMatch OMIM:248390 treacher collins syndrome 3 semapv:UnspecifiedMatching MONDO:0009558 Treacher Collins syndrome 3 skos:exactMatch mesh:C535707 semapv:UnspecifiedMatching MONDO:0009559 mandibulofacial dysostosis with mental deficiency skos:exactMatch OMIM:248400 mandibulofacial dysostosis with mental retardation semapv:UnspecifiedMatching MONDO:0009559 mandibulofacial dysostosis with mental deficiency skos:exactMatch UMLS:C4692584 semapv:UnspecifiedMatching MONDO:0009559 mandibulofacial dysostosis with mental deficiency skos:exactMatch mesh:C565420 semapv:UnspecifiedMatching MONDO:0009560 oculotrichoanal syndrome skos:exactMatch OMIM:248450 manitoba oculotrichoanal syndrome semapv:UnspecifiedMatching MONDO:0009560 oculotrichoanal syndrome skos:exactMatch Orphanet:2717 Oculotrichoanal syndrome semapv:UnspecifiedMatching MONDO:0009560 oculotrichoanal syndrome skos:exactMatch SCTID:703539006 semapv:UnspecifiedMatching MONDO:0009560 oculotrichoanal syndrome skos:exactMatch UMLS:C1855425 semapv:UnspecifiedMatching MONDO:0009560 oculotrichoanal syndrome skos:exactMatch mesh:C536022 semapv:UnspecifiedMatching MONDO:0009561 alpha-mannosidosis skos:exactMatch DOID:3413 alpha-mannosidosis semapv:UnspecifiedMatching MONDO:0009561 alpha-mannosidosis skos:exactMatch NCIT:C84548 Alpha-Mannosidosis semapv:UnspecifiedMatching MONDO:0009561 alpha-mannosidosis skos:exactMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:UnspecifiedMatching MONDO:0009561 alpha-mannosidosis skos:exactMatch Orphanet:61 Alpha-mannosidosis semapv:UnspecifiedMatching MONDO:0009561 alpha-mannosidosis skos:exactMatch SCTID:65524005 semapv:UnspecifiedMatching MONDO:0009561 alpha-mannosidosis skos:exactMatch UMLS:C0024748 semapv:UnspecifiedMatching MONDO:0009561 alpha-mannosidosis skos:exactMatch mesh:D008363 semapv:UnspecifiedMatching MONDO:0009562 beta-mannosidosis skos:exactMatch DOID:3633 beta-mannosidosis semapv:UnspecifiedMatching MONDO:0009562 beta-mannosidosis skos:exactMatch NCIT:C84596 Beta-Mannosidosis semapv:UnspecifiedMatching MONDO:0009562 beta-mannosidosis skos:exactMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:UnspecifiedMatching MONDO:0009562 beta-mannosidosis skos:exactMatch Orphanet:118 Beta-mannosidosis semapv:UnspecifiedMatching MONDO:0009562 beta-mannosidosis skos:exactMatch SCTID:238047006 semapv:UnspecifiedMatching MONDO:0009562 beta-mannosidosis skos:exactMatch UMLS:C4048196 semapv:UnspecifiedMatching MONDO:0009562 beta-mannosidosis skos:exactMatch mesh:D044905 semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease skos:exactMatch DOID:9269 maple syrup urine disease semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease skos:exactMatch ICD10CM:E71.0 Maple-syrup-urine disease semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease skos:exactMatch NCIT:C34806 Maple Syrup Urine Disease semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease skos:exactMatch OMIM:248600 maple syrup urine disease semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease skos:exactMatch OMIMPS:248600 semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease skos:exactMatch Orphanet:511 Maple syrup urine disease semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease skos:exactMatch SCTID:27718001 semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease skos:exactMatch UMLS:C0024776 semapv:UnspecifiedMatching MONDO:0009563 maple syrup urine disease skos:exactMatch mesh:D008375 semapv:UnspecifiedMatching MONDO:0009564 Marden-Walker syndrome skos:exactMatch OMIM:248700 marden-walker syndrome semapv:UnspecifiedMatching MONDO:0009564 Marden-Walker syndrome skos:exactMatch Orphanet:2461 Marden-Walker syndrome semapv:UnspecifiedMatching MONDO:0009564 Marden-Walker syndrome skos:exactMatch SCTID:449824004 semapv:UnspecifiedMatching MONDO:0009564 Marden-Walker syndrome skos:exactMatch mesh:C535910 semapv:UnspecifiedMatching MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:exactMatch OMIM:248760 marfanoid habitus with microcephaly and glomerulonephritis semapv:UnspecifiedMatching MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:exactMatch Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:UnspecifiedMatching MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:exactMatch UMLS:C1855348 semapv:UnspecifiedMatching MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:exactMatch mesh:C565411 semapv:UnspecifiedMatching MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:exactMatch OMIM:248770 marfanoid mental retardation syndrome, autosomal semapv:UnspecifiedMatching MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:exactMatch Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:exactMatch UMLS:C1855347 semapv:UnspecifiedMatching MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:exactMatch mesh:C565410 semapv:UnspecifiedMatching MONDO:0009567 Marinesco-Sjogren syndrome skos:exactMatch DOID:0080195 Marinesco-Sjogren syndrome semapv:UnspecifiedMatching MONDO:0009567 Marinesco-Sjogren syndrome skos:exactMatch OMIM:248800 marinesco-sjogren syndrome semapv:UnspecifiedMatching MONDO:0009567 Marinesco-Sjogren syndrome skos:exactMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:UnspecifiedMatching MONDO:0009567 Marinesco-Sjogren syndrome skos:exactMatch SCTID:80734006 semapv:UnspecifiedMatching MONDO:0009567 Marinesco-Sjogren syndrome skos:exactMatch UMLS:C0024814 semapv:UnspecifiedMatching MONDO:0009568 mast syndrome skos:exactMatch DOID:0060245 Mast syndrome semapv:UnspecifiedMatching MONDO:0009568 mast syndrome skos:exactMatch OMIM:248900 mast syndrome semapv:UnspecifiedMatching MONDO:0009568 mast syndrome skos:exactMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:UnspecifiedMatching MONDO:0009568 mast syndrome skos:exactMatch SCTID:764734003 semapv:UnspecifiedMatching MONDO:0009568 mast syndrome skos:exactMatch UMLS:C1855346 semapv:UnspecifiedMatching MONDO:0009568 mast syndrome skos:exactMatch mesh:C565409 semapv:UnspecifiedMatching MONDO:0009569 Hennekam-Beemer syndrome skos:exactMatch OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia semapv:UnspecifiedMatching MONDO:0009569 Hennekam-Beemer syndrome skos:exactMatch Orphanet:2135 Hennekam-Beemer syndrome semapv:UnspecifiedMatching MONDO:0009569 Hennekam-Beemer syndrome skos:exactMatch SCTID:722453009 semapv:UnspecifiedMatching MONDO:0009569 Hennekam-Beemer syndrome skos:exactMatch UMLS:C3151493 semapv:UnspecifiedMatching MONDO:0009569 Hennekam-Beemer syndrome skos:exactMatch mesh:C536033 semapv:UnspecifiedMatching MONDO:0009570 McDonough syndrome skos:exactMatch OMIM:248950 mcdonough syndrome semapv:UnspecifiedMatching MONDO:0009570 McDonough syndrome skos:exactMatch Orphanet:2471 McDonough syndrome semapv:UnspecifiedMatching MONDO:0009570 McDonough syndrome skos:exactMatch SCTID:715441004 semapv:UnspecifiedMatching MONDO:0009570 McDonough syndrome skos:exactMatch UMLS:C0796038 semapv:UnspecifiedMatching MONDO:0009570 McDonough syndrome skos:exactMatch mesh:C538158 semapv:UnspecifiedMatching MONDO:0009571 Meckel syndrome, type 1 skos:exactMatch DOID:0070115 Meckel syndrome 1 semapv:UnspecifiedMatching MONDO:0009571 Meckel syndrome, type 1 skos:exactMatch OMIM:249000 meckel syndrome, iia 1 semapv:UnspecifiedMatching MONDO:0009571 Meckel syndrome, type 1 skos:exactMatch UMLS:C3714506 semapv:UnspecifiedMatching MONDO:0009571 Meckel syndrome, type 1 skos:exactMatch mesh:C536133 semapv:UnspecifiedMatching MONDO:0009572 autosomal recessive familial Mediterranean fever skos:exactMatch OMIM:249100 familial mediterranean fever semapv:UnspecifiedMatching MONDO:0009573 megaepiphyseal dwarfism skos:exactMatch OMIM:249230 megaepiphyseal dwarfism semapv:UnspecifiedMatching MONDO:0009573 megaepiphyseal dwarfism skos:exactMatch mesh:C536140 semapv:UnspecifiedMatching MONDO:0009574 megalencephaly with dysmyelination skos:exactMatch OMIM:249240 megalencephaly with dysmyelination semapv:UnspecifiedMatching MONDO:0009574 megalencephaly with dysmyelination skos:exactMatch UMLS:C1855309 semapv:UnspecifiedMatching MONDO:0009574 megalencephaly with dysmyelination skos:exactMatch mesh:C565408 semapv:UnspecifiedMatching MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch DOID:0090117 thiamine-responsive megaloblastic anemia syndrome semapv:UnspecifiedMatching MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch OMIM:249270 thiamine-responsive megaloblastic anemia syndrome semapv:UnspecifiedMatching MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:UnspecifiedMatching MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch SCTID:237617006 semapv:UnspecifiedMatching MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch mesh:C536510 semapv:UnspecifiedMatching MONDO:0009576 megalocornea skos:exactMatch DOID:0060305 megalocornea semapv:UnspecifiedMatching MONDO:0009576 megalocornea skos:exactMatch OMIM:249300 megalocornea semapv:UnspecifiedMatching MONDO:0009576 megalocornea skos:exactMatch SCTID:268158009 semapv:UnspecifiedMatching MONDO:0009576 megalocornea skos:exactMatch mesh:C562829 semapv:UnspecifiedMatching MONDO:0009577 megalocornea-intellectual disability syndrome skos:exactMatch OMIM:249310 neuhauser syndrome semapv:UnspecifiedMatching MONDO:0009577 megalocornea-intellectual disability syndrome skos:exactMatch Orphanet:2479 Megalocornea-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0009577 megalocornea-intellectual disability syndrome skos:exactMatch SCTID:733522005 semapv:UnspecifiedMatching MONDO:0009577 megalocornea-intellectual disability syndrome skos:exactMatch UMLS:C0796086 semapv:UnspecifiedMatching MONDO:0009577 megalocornea-intellectual disability syndrome skos:exactMatch mesh:C536143 semapv:UnspecifiedMatching MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch OMIM:249400 melanosis, neurocutaneous semapv:UnspecifiedMatching MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:UnspecifiedMatching MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch mesh:C537387 semapv:UnspecifiedMatching MONDO:0009579 Frank-Ter Haar syndrome skos:exactMatch DOID:0111789 Frank-Ter Haar syndrome semapv:UnspecifiedMatching MONDO:0009579 Frank-Ter Haar syndrome skos:exactMatch OMIM:249420 frank-ter haar syndrome semapv:UnspecifiedMatching MONDO:0009579 Frank-Ter Haar syndrome skos:exactMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:UnspecifiedMatching MONDO:0009579 Frank-Ter Haar syndrome skos:exactMatch SCTID:720958002 semapv:UnspecifiedMatching MONDO:0009579 Frank-Ter Haar syndrome skos:exactMatch UMLS:C1855305 semapv:UnspecifiedMatching MONDO:0009579 Frank-Ter Haar syndrome skos:exactMatch mesh:C536577 semapv:UnspecifiedMatching MONDO:0009579 Frank-Ter Haar syndrome skos:exactMatch mesh:C537274 semapv:UnspecifiedMatching MONDO:0009580 intellectual disability, autosomal recessive 1 skos:exactMatch DOID:0081177 autosomal recessive intellectual developmental disorder 1 semapv:UnspecifiedMatching MONDO:0009580 intellectual disability, autosomal recessive 1 skos:exactMatch OMIM:249500 intellectual developmental disorder, autosomal recessive 1 semapv:UnspecifiedMatching MONDO:0009580 intellectual disability, autosomal recessive 1 skos:exactMatch UMLS:C1855304 semapv:UnspecifiedMatching MONDO:0009580 intellectual disability, autosomal recessive 1 skos:exactMatch mesh:C565406 semapv:UnspecifiedMatching MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:exactMatch OMIM:249599 mental retardation syndrome, belgian iia semapv:UnspecifiedMatching MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:exactMatch Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:UnspecifiedMatching MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:exactMatch SCTID:722454003 semapv:UnspecifiedMatching MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:exactMatch UMLS:C1855303 semapv:UnspecifiedMatching MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:exactMatch mesh:C537447 semapv:UnspecifiedMatching MONDO:0009582 Mietens syndrome skos:exactMatch OMIM:249600 mental retardation syndrome, mietens-weber iia semapv:UnspecifiedMatching MONDO:0009582 Mietens syndrome skos:exactMatch Orphanet:2557 Mietens syndrome semapv:UnspecifiedMatching MONDO:0009582 Mietens syndrome skos:exactMatch SCTID:40291001 semapv:UnspecifiedMatching MONDO:0009582 Mietens syndrome skos:exactMatch UMLS:C0265249 semapv:UnspecifiedMatching MONDO:0009582 Mietens syndrome skos:exactMatch mesh:C537444 semapv:UnspecifiedMatching MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:exactMatch OMIM:249620 ohdo syndrome semapv:UnspecifiedMatching MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:exactMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:UnspecifiedMatching MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:exactMatch SCTID:412787009 semapv:UnspecifiedMatching MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:exactMatch UMLS:C0796094 semapv:UnspecifiedMatching MONDO:0009584 intellectual disability, Buenos-Aires type skos:exactMatch OMIM:249630 mental retardation, buenos aires iia semapv:UnspecifiedMatching MONDO:0009584 intellectual disability, Buenos-Aires type skos:exactMatch Orphanet:3079 Intellectual disability, Buenos-Aires type semapv:UnspecifiedMatching MONDO:0009584 intellectual disability, Buenos-Aires type skos:exactMatch SCTID:725906006 semapv:UnspecifiedMatching MONDO:0009584 intellectual disability, Buenos-Aires type skos:exactMatch UMLS:C0796080 semapv:UnspecifiedMatching MONDO:0009584 intellectual disability, Buenos-Aires type skos:exactMatch mesh:C563095 semapv:UnspecifiedMatching MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:exactMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:UnspecifiedMatching MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:exactMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:UnspecifiedMatching MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:exactMatch UMLS:C0796055 semapv:UnspecifiedMatching MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:exactMatch mesh:C563085 semapv:UnspecifiedMatching MONDO:0009586 mesangial sclerosis, diffuse renal, with ocular abnormalities skos:exactMatch OMIM:249660 mesangial sclerosis, diffuse renal, with ocular abnormalities semapv:UnspecifiedMatching MONDO:0009586 mesangial sclerosis, diffuse renal, with ocular abnormalities skos:exactMatch UMLS:C1855282 semapv:UnspecifiedMatching MONDO:0009586 mesangial sclerosis, diffuse renal, with ocular abnormalities skos:exactMatch mesh:C565405 semapv:UnspecifiedMatching MONDO:0009587 mesoaxial hexadactyly and cardiac malformation skos:exactMatch OMIM:249670 mesoaxial hexadactyly and cardiac malformation semapv:UnspecifiedMatching MONDO:0009587 mesoaxial hexadactyly and cardiac malformation skos:exactMatch UMLS:C0796057 semapv:UnspecifiedMatching MONDO:0009587 mesoaxial hexadactyly and cardiac malformation skos:exactMatch mesh:C563087 semapv:UnspecifiedMatching MONDO:0009588 Langer mesomelic dysplasia skos:exactMatch NCIT:C126876 Langer Mesomelic Dysplasia semapv:UnspecifiedMatching MONDO:0009588 Langer mesomelic dysplasia skos:exactMatch OMIM:249700 langer mesomelic dysplasia semapv:UnspecifiedMatching MONDO:0009588 Langer mesomelic dysplasia skos:exactMatch Orphanet:2632 Langer mesomelic dysplasia semapv:UnspecifiedMatching MONDO:0009588 Langer mesomelic dysplasia skos:exactMatch SCTID:38494008 semapv:UnspecifiedMatching MONDO:0009588 Langer mesomelic dysplasia skos:exactMatch UMLS:C0432230 semapv:UnspecifiedMatching MONDO:0009588 Langer mesomelic dysplasia skos:exactMatch mesh:C537267 semapv:UnspecifiedMatching MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:exactMatch OMIM:249710 mesomelic limb shortening and bowing semapv:UnspecifiedMatching MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:exactMatch Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome semapv:UnspecifiedMatching MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:exactMatch SCTID:715471007 semapv:UnspecifiedMatching MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:exactMatch mesh:C565404 semapv:UnspecifiedMatching MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency semapv:UnspecifiedMatching MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch SCTID:68390005 semapv:UnspecifiedMatching MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch UMLS:C0268262 semapv:UnspecifiedMatching MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch mesh:C562609 semapv:UnspecifiedMatching MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:UnspecifiedMatching MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:exactMatch Orphanet:309263 Metachromatic leukodystrophy, juvenile form semapv:UnspecifiedMatching MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:exactMatch SCTID:238031009 semapv:UnspecifiedMatching MONDO:0009592 metaphyseal acroscyphodysplasia skos:exactMatch OMIM:250215 metaphyseal acroscyphodysplasia semapv:UnspecifiedMatching MONDO:0009592 metaphyseal acroscyphodysplasia skos:exactMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:UnspecifiedMatching MONDO:0009592 metaphyseal acroscyphodysplasia skos:exactMatch UMLS:C1855243 semapv:UnspecifiedMatching MONDO:0009592 metaphyseal acroscyphodysplasia skos:exactMatch mesh:C537350 semapv:UnspecifiedMatching MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:exactMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:UnspecifiedMatching MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:exactMatch OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia semapv:UnspecifiedMatching MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:exactMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:UnspecifiedMatching MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:exactMatch UMLS:C1855229 semapv:UnspecifiedMatching MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:exactMatch mesh:C535798 semapv:UnspecifiedMatching MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:exactMatch OMIM:250230 metaphyseal chondrodysplasia, kaitila iia semapv:UnspecifiedMatching MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:exactMatch Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type semapv:UnspecifiedMatching MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:exactMatch UMLS:C1855217 semapv:UnspecifiedMatching MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:exactMatch mesh:C565400 semapv:UnspecifiedMatching MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch DOID:14773 cartilage-hair hypoplasia semapv:UnspecifiedMatching MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch NCIT:C61245 Cartilage Hair Hypoplasia semapv:UnspecifiedMatching MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch OMIM:250250 cartilage-hair hypoplasia semapv:UnspecifiedMatching MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch Orphanet:175 Cartilage-hair hypoplasia semapv:UnspecifiedMatching MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch SCTID:7720002 semapv:UnspecifiedMatching MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch UMLS:C0220748 semapv:UnspecifiedMatching MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch mesh:C535916 semapv:UnspecifiedMatching MONDO:0009596 metaphyseal chondrodysplasia, Pena type skos:exactMatch OMIM:250300 metaphyseal chondrodysplasia, pena iia semapv:UnspecifiedMatching MONDO:0009596 metaphyseal chondrodysplasia, Pena type skos:exactMatch UMLS:C1855195 semapv:UnspecifiedMatching MONDO:0009596 metaphyseal chondrodysplasia, Pena type skos:exactMatch mesh:C565399 semapv:UnspecifiedMatching MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:exactMatch OMIM:250400 metaphyseal dysplasia, spahr iia semapv:UnspecifiedMatching MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:exactMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:UnspecifiedMatching MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:exactMatch SCTID:254084008 semapv:UnspecifiedMatching MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:exactMatch UMLS:C0432225 semapv:UnspecifiedMatching MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:exactMatch mesh:C537353 semapv:UnspecifiedMatching MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:exactMatch OMIM:250410 retinitis pigmentosa with or without skeletal anomalies semapv:UnspecifiedMatching MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:exactMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:UnspecifiedMatching MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:exactMatch UMLS:C1855188 semapv:UnspecifiedMatching MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:exactMatch mesh:C565398 semapv:UnspecifiedMatching MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:exactMatch OMIM:250420 metaphyseal dysostosis, impaired intellectual development, and conductive deafness semapv:UnspecifiedMatching MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:exactMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:UnspecifiedMatching MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:exactMatch UMLS:C1855175 semapv:UnspecifiedMatching MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:exactMatch mesh:C565396 semapv:UnspecifiedMatching MONDO:0009600 metaphyseal dysplasia, anetoderma, and optic atrophy skos:exactMatch OMIM:250450 metaphyseal dysplasia, anetoderma, and optic atrophy semapv:UnspecifiedMatching MONDO:0009600 metaphyseal dysplasia, anetoderma, and optic atrophy skos:exactMatch UMLS:C1855174 semapv:UnspecifiedMatching MONDO:0009600 metaphyseal dysplasia, anetoderma, and optic atrophy skos:exactMatch mesh:C565395 semapv:UnspecifiedMatching MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:exactMatch OMIM:250460 metaphyseal dysplasia without hypotrichosis semapv:UnspecifiedMatching MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:exactMatch UMLS:C1834821 semapv:UnspecifiedMatching MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:exactMatch mesh:C563574 semapv:UnspecifiedMatching MONDO:0009602 metaphyseal modeling abnormality, skin lesions, and spastic paraplegia skos:exactMatch OMIM:250500 metaphyseal modeling abnormality, skin lesions, and spastic paraplegia semapv:UnspecifiedMatching MONDO:0009602 metaphyseal modeling abnormality, skin lesions, and spastic paraplegia skos:exactMatch UMLS:C1855164 semapv:UnspecifiedMatching MONDO:0009602 metaphyseal modeling abnormality, skin lesions, and spastic paraplegia skos:exactMatch mesh:C535875 semapv:UnspecifiedMatching MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:UnspecifiedMatching MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:UnspecifiedMatching MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch SCTID:722488009 semapv:UnspecifiedMatching MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch mesh:C562803 semapv:UnspecifiedMatching MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch OMIM:250700 methemoglobin reductase deficiency semapv:UnspecifiedMatching MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch SCTID:234397008 semapv:UnspecifiedMatching MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch UMLS:C0472786 semapv:UnspecifiedMatching MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch mesh:C563171 semapv:UnspecifiedMatching MONDO:0009605 methemoglobinemia type 4 skos:exactMatch DOID:0112316 methemoglobinemia and ambiguous genitalia semapv:UnspecifiedMatching MONDO:0009605 methemoglobinemia type 4 skos:exactMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:UnspecifiedMatching MONDO:0009605 methemoglobinemia type 4 skos:exactMatch UMLS:C4285231 semapv:UnspecifiedMatching MONDO:0009605 methemoglobinemia type 4 skos:exactMatch mesh:C567102 semapv:UnspecifiedMatching MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:exactMatch OMIM:250800 methemoglobinemia due to deficiency of methemoglobin reductase semapv:UnspecifiedMatching MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:exactMatch UMLS:C0268193 semapv:UnspecifiedMatching MONDO:0009607 methionine adenosyltransferase deficiency skos:exactMatch NCIT:C123435 Methionine Adenosyltransferase Deficiency semapv:UnspecifiedMatching MONDO:0009607 methionine adenosyltransferase deficiency skos:exactMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:UnspecifiedMatching MONDO:0009607 methionine adenosyltransferase deficiency skos:exactMatch Orphanet:168598 Methionine adenosyltransferase I/III deficiency semapv:UnspecifiedMatching MONDO:0009608 methionine malabsorption syndrome skos:exactMatch OMIM:250900 methionine malabsorption syndrome semapv:UnspecifiedMatching MONDO:0009608 methionine malabsorption syndrome skos:exactMatch SCTID:45812003 semapv:UnspecifiedMatching MONDO:0009608 methionine malabsorption syndrome skos:exactMatch UMLS:C0268622 semapv:UnspecifiedMatching MONDO:0009608 methionine malabsorption syndrome skos:exactMatch mesh:C562682 semapv:UnspecifiedMatching MONDO:0009609 methylcobalamin deficiency type cblG skos:exactMatch DOID:0050733 methylmalonic aciduria and homocystinuria type cblG semapv:UnspecifiedMatching MONDO:0009609 methylcobalamin deficiency type cblG skos:exactMatch DOID:0112256 homocystinuria-megaloblastic anemia cblG type semapv:UnspecifiedMatching MONDO:0009609 methylcobalamin deficiency type cblG skos:exactMatch OMIM:250940 homocystinuria-megaloblastic anemia, cblg complementation iia semapv:UnspecifiedMatching MONDO:0009609 methylcobalamin deficiency type cblG skos:exactMatch Orphanet:2170 Methylcobalamin deficiency type cblG semapv:UnspecifiedMatching MONDO:0009609 methylcobalamin deficiency type cblG skos:exactMatch SCTID:721187005 semapv:UnspecifiedMatching MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch DOID:0110002 3-methylglutaconic aciduria type 1 semapv:UnspecifiedMatching MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch NCIT:C98683 3-Methylglutaconic Aciduria Type 1 semapv:UnspecifiedMatching MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch OMIM:250950 3-methylglutaconic aciduria, iia 1 semapv:UnspecifiedMatching MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:UnspecifiedMatching MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch SCTID:237951008 semapv:UnspecifiedMatching MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch UMLS:C0342727 semapv:UnspecifiedMatching MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch mesh:C562801 semapv:UnspecifiedMatching MONDO:0009611 3-methylglutaconic aciduria type 4 skos:exactMatch DOID:0110006 3-methylglutaconic aciduria type 4 semapv:UnspecifiedMatching MONDO:0009611 3-methylglutaconic aciduria type 4 skos:exactMatch OMIM:250951 3-methylglutaconic aciduria, iia 4 semapv:UnspecifiedMatching MONDO:0009611 3-methylglutaconic aciduria type 4 skos:exactMatch Orphanet:67048 3-methylglutaconic aciduria type 4 semapv:UnspecifiedMatching MONDO:0009611 3-methylglutaconic aciduria type 4 skos:exactMatch SCTID:297233004 semapv:UnspecifiedMatching MONDO:0009611 3-methylglutaconic aciduria type 4 skos:exactMatch UMLS:C1855126 semapv:UnspecifiedMatching MONDO:0009611 3-methylglutaconic aciduria type 4 skos:exactMatch mesh:C565393 semapv:UnspecifiedMatching MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency semapv:UnspecifiedMatching MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch NCIT:C148366 Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency semapv:UnspecifiedMatching MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency semapv:UnspecifiedMatching MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:UnspecifiedMatching MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch UMLS:C1855114 semapv:UnspecifiedMatching MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch mesh:C565390 semapv:UnspecifiedMatching MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch DOID:0060742 methylmalonic acidemia cblA type semapv:UnspecifiedMatching MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch NCIT:C142171 Methylmalonic Aciduria, cblA Type semapv:UnspecifiedMatching MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch OMIM:251100 methylmalonic aciduria, cbla iia semapv:UnspecifiedMatching MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA semapv:UnspecifiedMatching MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch SCTID:73843004 semapv:UnspecifiedMatching MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch SCTID:82245003 semapv:UnspecifiedMatching MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch UMLS:C1855109 semapv:UnspecifiedMatching MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch DOID:0060743 methylmalonic acidemia cblB type semapv:UnspecifiedMatching MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch NCIT:C142172 Methylmalonic Aciduria, cblB Type semapv:UnspecifiedMatching MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch OMIM:251110 methylmalonic aciduria, cblb iia semapv:UnspecifiedMatching MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB semapv:UnspecifiedMatching MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch UMLS:C1855102 semapv:UnspecifiedMatching MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:exactMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:UnspecifiedMatching MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:exactMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:UnspecifiedMatching MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:exactMatch SCTID:765137006 semapv:UnspecifiedMatching MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:exactMatch UMLS:C1855100 semapv:UnspecifiedMatching MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:exactMatch mesh:C565386 semapv:UnspecifiedMatching MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:exactMatch OMIM:251190 microcephalic primordial dwarfism, toriello iia semapv:UnspecifiedMatching MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:exactMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:UnspecifiedMatching MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:exactMatch SCTID:715482004 semapv:UnspecifiedMatching MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:exactMatch UMLS:C1855089 semapv:UnspecifiedMatching MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:exactMatch mesh:C537321 semapv:UnspecifiedMatching MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:exactMatch DOID:0070285 primary autosomal recessive microcephaly 1 semapv:UnspecifiedMatching MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:exactMatch OMIM:251200 microcephaly 1, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:exactMatch UMLS:C1855081 semapv:UnspecifiedMatching MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:exactMatch mesh:C565384 semapv:UnspecifiedMatching MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:exactMatch OMIM:251220 microcephaly-cardiomyopathy semapv:UnspecifiedMatching MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:exactMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:UnspecifiedMatching MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:exactMatch SCTID:719380003 semapv:UnspecifiedMatching MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:exactMatch UMLS:C1855080 semapv:UnspecifiedMatching MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:exactMatch mesh:C536711 semapv:UnspecifiedMatching MONDO:0009619 microcephaly-micromelia syndrome skos:exactMatch OMIM:251230 microcephaly-micromelia syndrome semapv:UnspecifiedMatching MONDO:0009619 microcephaly-micromelia syndrome skos:exactMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:UnspecifiedMatching MONDO:0009619 microcephaly-micromelia syndrome skos:exactMatch UMLS:C1855079 semapv:UnspecifiedMatching MONDO:0009619 microcephaly-micromelia syndrome skos:exactMatch mesh:C565382 semapv:UnspecifiedMatching MONDO:0009620 Say-Barber-Miller syndrome skos:exactMatch OMIM:251240 microcephaly with chemotactic defect and transient hypogammaglobulinemia semapv:UnspecifiedMatching MONDO:0009620 Say-Barber-Miller syndrome skos:exactMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:UnspecifiedMatching MONDO:0009620 Say-Barber-Miller syndrome skos:exactMatch SCTID:721903007 semapv:UnspecifiedMatching MONDO:0009620 Say-Barber-Miller syndrome skos:exactMatch mesh:C536618 semapv:UnspecifiedMatching MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:exactMatch OMIM:251250 microcephaly with cervical spine fusion anomalies semapv:UnspecifiedMatching MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:exactMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:UnspecifiedMatching MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:exactMatch SCTID:715462003 semapv:UnspecifiedMatching MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:exactMatch UMLS:C0796066 semapv:UnspecifiedMatching MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:exactMatch mesh:C537325 semapv:UnspecifiedMatching MONDO:0009622 Jawad syndrome skos:exactMatch OMIM:251255 jawad syndrome semapv:UnspecifiedMatching MONDO:0009622 Jawad syndrome skos:exactMatch Orphanet:313795 Jawad syndrome semapv:UnspecifiedMatching MONDO:0009622 Jawad syndrome skos:exactMatch UMLS:C0796063 semapv:UnspecifiedMatching MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch DOID:7400 Nijmegen breakage syndrome semapv:UnspecifiedMatching MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch NCIT:C4692 Nijmegen Breakage Syndrome semapv:UnspecifiedMatching MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch OMIM:251260 nijmegen breakage syndrome semapv:UnspecifiedMatching MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch Orphanet:647 Nijmegen breakage syndrome semapv:UnspecifiedMatching MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch SCTID:234638009 semapv:UnspecifiedMatching MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch UMLS:C0398791 semapv:UnspecifiedMatching MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch mesh:D049932 semapv:UnspecifiedMatching MONDO:0009624 microcephaly and chorioretinopathy 1 skos:exactMatch DOID:0080105 microcephaly and chorioretinopathy 1 semapv:UnspecifiedMatching MONDO:0009624 microcephaly and chorioretinopathy 1 skos:exactMatch NCIT:C129306 Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 semapv:UnspecifiedMatching MONDO:0009624 microcephaly and chorioretinopathy 1 skos:exactMatch OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 semapv:UnspecifiedMatching MONDO:0009624 microcephaly and chorioretinopathy 1 skos:exactMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:UnspecifiedMatching MONDO:0009625 diencephalic-mesencephalic junction dysplasia syndrome 1 skos:exactMatch OMIM:251280 diencephalic-mesencephalic junction dysplasia syndrome 1 semapv:UnspecifiedMatching MONDO:0009625 diencephalic-mesencephalic junction dysplasia syndrome 1 skos:exactMatch UMLS:C4538630 semapv:UnspecifiedMatching MONDO:0009625 diencephalic-mesencephalic junction dysplasia syndrome 1 skos:exactMatch mesh:C537546 semapv:UnspecifiedMatching MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch DOID:0050656 pseudo-TORCH syndrome 1 semapv:UnspecifiedMatching MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch OMIMPS:251290 semapv:UnspecifiedMatching MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:UnspecifiedMatching MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch SCTID:722390006 semapv:UnspecifiedMatching MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch UMLS:C3489725 semapv:UnspecifiedMatching MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch DOID:0080694 Galloway-Mowat syndrome semapv:UnspecifiedMatching MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch NCIT:C132195 Galloway-Mowat Syndrome semapv:UnspecifiedMatching MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch OMIMPS:251300 semapv:UnspecifiedMatching MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch Orphanet:2065 Galloway-Mowat syndrome semapv:UnspecifiedMatching MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch SCTID:721297008 semapv:UnspecifiedMatching MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch UMLS:C0795949 semapv:UnspecifiedMatching MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch mesh:C537548 semapv:UnspecifiedMatching MONDO:0009628 obsolete microcolon skos:exactMatch NCIT:C98987 Microcolon semapv:UnspecifiedMatching MONDO:0009628 obsolete microcolon skos:exactMatch OMIM:251400 microcolon semapv:UnspecifiedMatching MONDO:0009628 obsolete microcolon skos:exactMatch SCTID:18389004 semapv:UnspecifiedMatching MONDO:0009628 obsolete microcolon skos:exactMatch mesh:C562563 semapv:UnspecifiedMatching MONDO:0009629 Desbuquois dysplasia 1 skos:exactMatch OMIM:251450 desbuquois dysplasia 1 semapv:UnspecifiedMatching MONDO:0009629 Desbuquois dysplasia 1 skos:exactMatch UMLS:C4012146 semapv:UnspecifiedMatching MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:exactMatch OMIM:251505 microphthalmia, isolated, with coloboma 4 semapv:UnspecifiedMatching MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:exactMatch SCTID:715771008 semapv:UnspecifiedMatching MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:exactMatch UMLS:C1855053 semapv:UnspecifiedMatching MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:exactMatch mesh:C565378 semapv:UnspecifiedMatching MONDO:0009631 isolated microphthalmia 1 skos:exactMatch DOID:0060840 isolated microphthalmia 1 semapv:UnspecifiedMatching MONDO:0009631 isolated microphthalmia 1 skos:exactMatch OMIM:251600 microphthalmia, isolated 1 semapv:UnspecifiedMatching MONDO:0009631 isolated microphthalmia 1 skos:exactMatch UMLS:C1855052 semapv:UnspecifiedMatching MONDO:0009631 isolated microphthalmia 1 skos:exactMatch mesh:C565377 semapv:UnspecifiedMatching MONDO:0009632 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies skos:exactMatch OMIM:251700 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies semapv:UnspecifiedMatching MONDO:0009632 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies skos:exactMatch UMLS:C1968637 semapv:UnspecifiedMatching MONDO:0009632 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies skos:exactMatch mesh:C566884 semapv:UnspecifiedMatching MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma skos:exactMatch OMIM:251750 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma semapv:UnspecifiedMatching MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma skos:exactMatch UMLS:C3538951 semapv:UnspecifiedMatching MONDO:0009634 microtia with meatal atresia and conductive deafness skos:exactMatch OMIM:251800 microtia with meatal atresia and conductive deafness semapv:UnspecifiedMatching MONDO:0009634 microtia with meatal atresia and conductive deafness skos:exactMatch UMLS:C2931502 semapv:UnspecifiedMatching MONDO:0009634 microtia with meatal atresia and conductive deafness skos:exactMatch mesh:C537469 semapv:UnspecifiedMatching MONDO:0009635 microvillus inclusion disease skos:exactMatch DOID:0060775 microvillus inclusion disease semapv:UnspecifiedMatching MONDO:0009635 microvillus inclusion disease skos:exactMatch OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis semapv:UnspecifiedMatching MONDO:0009635 microvillus inclusion disease skos:exactMatch Orphanet:2290 Microvillus inclusion disease semapv:UnspecifiedMatching MONDO:0009635 microvillus inclusion disease skos:exactMatch SCTID:235729009 semapv:UnspecifiedMatching MONDO:0009635 microvillus inclusion disease skos:exactMatch UMLS:C0341306 semapv:UnspecifiedMatching MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) skos:exactMatch DOID:0080121 mitochondrial DNA depletion syndrome 3 semapv:UnspecifiedMatching MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) skos:exactMatch OMIM:251880 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) semapv:UnspecifiedMatching MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) skos:exactMatch Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency semapv:UnspecifiedMatching MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) skos:exactMatch UMLS:C5191055 semapv:UnspecifiedMatching MONDO:0009637 inborn mitochondrial myopathy skos:exactMatch DOID:699 mitochondrial myopathy semapv:UnspecifiedMatching MONDO:0009637 inborn mitochondrial myopathy skos:exactMatch NCIT:C101328 Mitochondrial Myopathy semapv:UnspecifiedMatching MONDO:0009637 inborn mitochondrial myopathy skos:exactMatch Orphanet:206966 Mitochondrial myopathy semapv:UnspecifiedMatching MONDO:0009637 inborn mitochondrial myopathy skos:exactMatch UMLS:C0162670 semapv:UnspecifiedMatching MONDO:0009637 inborn mitochondrial myopathy skos:exactMatch mesh:D017240 semapv:UnspecifiedMatching MONDO:0009638 mitochondrial myopathy with a defect in mitochondrial-protein transport skos:exactMatch OMIM:251945 mitochondrial myopathy with a defect 1n mitochondrial-protein transport semapv:UnspecifiedMatching MONDO:0009638 mitochondrial myopathy with a defect in mitochondrial-protein transport skos:exactMatch UMLS:C1855034 semapv:UnspecifiedMatching MONDO:0009638 mitochondrial myopathy with a defect in mitochondrial-protein transport skos:exactMatch mesh:C565376 semapv:UnspecifiedMatching MONDO:0009642 orofaciodigital syndrome type II skos:exactMatch OMIM:252100 mohr syndrome semapv:UnspecifiedMatching MONDO:0009642 orofaciodigital syndrome type II skos:exactMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:UnspecifiedMatching MONDO:0009642 orofaciodigital syndrome type II skos:exactMatch SCTID:1779005 semapv:UnspecifiedMatching MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:exactMatch DOID:0111164 molybdenum cofactor deficiency type A semapv:UnspecifiedMatching MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:exactMatch OMIM:252150 molybdenum cofactor deficiency, complementation group a semapv:UnspecifiedMatching MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:exactMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:UnspecifiedMatching MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:exactMatch UMLS:C1854988 semapv:UnspecifiedMatching MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:exactMatch mesh:C565372 semapv:UnspecifiedMatching MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:exactMatch DOID:0111163 molybdenum cofactor deficiency type B semapv:UnspecifiedMatching MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:exactMatch OMIM:252160 molybdenum cofactor deficiency, complementation group B semapv:UnspecifiedMatching MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:exactMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:UnspecifiedMatching MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:exactMatch UMLS:C1854989 semapv:UnspecifiedMatching MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:exactMatch mesh:C565373 semapv:UnspecifiedMatching MONDO:0009645 chronic mucocutaneous candidiasis due to monocyte chemotactic disorder skos:exactMatch OMIM:252250 monocyte chemotactic disorder semapv:UnspecifiedMatching MONDO:0009645 chronic mucocutaneous candidiasis due to monocyte chemotactic disorder skos:exactMatch UMLS:C1854982 semapv:UnspecifiedMatching MONDO:0009645 chronic mucocutaneous candidiasis due to monocyte chemotactic disorder skos:exactMatch mesh:C565371 semapv:UnspecifiedMatching MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch NCIT:C176908 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 semapv:UnspecifiedMatching MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch OMIM:252270 monosomy 7 myelodysplasia and leukemia syndrome 1 semapv:UnspecifiedMatching MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch UMLS:C1854978 semapv:UnspecifiedMatching MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch mesh:C565370 semapv:UnspecifiedMatching MONDO:0009647 Morquio syndrome C skos:exactMatch OMIM:252300 morquio syndrome c semapv:UnspecifiedMatching MONDO:0009647 Morquio syndrome C skos:exactMatch mesh:C536247 semapv:UnspecifiedMatching MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:exactMatch OMIM:252320 motor neuropathy, peripheral, with dysautonomia semapv:UnspecifiedMatching MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:exactMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:UnspecifiedMatching MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:exactMatch UMLS:C1854961 semapv:UnspecifiedMatching MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:exactMatch mesh:C536988 semapv:UnspecifiedMatching MONDO:0009649 moyamoya disease 1 skos:exactMatch OMIM:252350 moyamoya disease 1 semapv:UnspecifiedMatching MONDO:0009649 moyamoya disease 1 skos:exactMatch SCTID:69116000 semapv:UnspecifiedMatching MONDO:0009649 moyamoya disease 1 skos:exactMatch mesh:C536991 semapv:UnspecifiedMatching MONDO:0009650 mucolipidosis type II skos:exactMatch DOID:0080070 mucolipidosis II alpha/beta semapv:UnspecifiedMatching MONDO:0009650 mucolipidosis type II skos:exactMatch NCIT:C61270 I-Cell Disease semapv:UnspecifiedMatching MONDO:0009650 mucolipidosis type II skos:exactMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:UnspecifiedMatching MONDO:0009650 mucolipidosis type II skos:exactMatch Orphanet:576 Mucolipidosis type II semapv:UnspecifiedMatching MONDO:0009650 mucolipidosis type II skos:exactMatch SCTID:70199000 semapv:UnspecifiedMatching MONDO:0009650 mucolipidosis type II skos:exactMatch UMLS:C2673377 semapv:UnspecifiedMatching MONDO:0009650 mucolipidosis type II skos:exactMatch mesh:C538602 semapv:UnspecifiedMatching MONDO:0009652 GNPTG-mucolipidosis skos:exactMatch DOID:0080678 mucolipidosis III gamma semapv:UnspecifiedMatching MONDO:0009652 GNPTG-mucolipidosis skos:exactMatch NCIT:C129978 Mucolipidosis Type III Gamma semapv:UnspecifiedMatching MONDO:0009652 GNPTG-mucolipidosis skos:exactMatch OMIM:252605 mucolipidosis 3 gamma semapv:UnspecifiedMatching MONDO:0009652 GNPTG-mucolipidosis skos:exactMatch Orphanet:423470 Mucolipidosis type III gamma semapv:UnspecifiedMatching MONDO:0009652 GNPTG-mucolipidosis skos:exactMatch UMLS:C1854896 semapv:UnspecifiedMatching MONDO:0009652 GNPTG-mucolipidosis skos:exactMatch mesh:C565367 semapv:UnspecifiedMatching MONDO:0009653 mucolipidosis type IV skos:exactMatch DOID:0080490 mucolipidosis type IV semapv:UnspecifiedMatching MONDO:0009653 mucolipidosis type IV skos:exactMatch NCIT:C84896 Mucolipidosis Type IV semapv:UnspecifiedMatching MONDO:0009653 mucolipidosis type IV skos:exactMatch OMIM:252650 mucolipidosis 4 semapv:UnspecifiedMatching MONDO:0009653 mucolipidosis type IV skos:exactMatch Orphanet:578 Mucolipidosis type IV semapv:UnspecifiedMatching MONDO:0009653 mucolipidosis type IV skos:exactMatch SCTID:111384001 semapv:UnspecifiedMatching MONDO:0009653 mucolipidosis type IV skos:exactMatch UMLS:C0238286 semapv:UnspecifiedMatching MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 semapv:UnspecifiedMatching MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch UMLS:C0220752 semapv:UnspecifiedMatching MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch mesh:C562442 semapv:UnspecifiedMatching MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch DOID:0111395 mucopolysaccharidosis type IIIA semapv:UnspecifiedMatching MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch NCIT:C84897 Mucopolysaccharidosis Type IIIA semapv:UnspecifiedMatching MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:UnspecifiedMatching MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch Orphanet:79269 Sanfilippo syndrome type A semapv:UnspecifiedMatching MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch SCTID:41572006 semapv:UnspecifiedMatching MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch UMLS:C0086647 semapv:UnspecifiedMatching MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch DOID:0111394 mucopolysaccharidosis type IIIB semapv:UnspecifiedMatching MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch NCIT:C84898 Mucopolysaccharidosis Type IIIB semapv:UnspecifiedMatching MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:UnspecifiedMatching MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch Orphanet:79270 Sanfilippo syndrome type B semapv:UnspecifiedMatching MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch SCTID:59990008 semapv:UnspecifiedMatching MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch UMLS:C0086648 semapv:UnspecifiedMatching MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch DOID:0111393 mucopolysaccharidosis type IIIC semapv:UnspecifiedMatching MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch NCIT:C84899 Mucopolysaccharidosis Type IIIC semapv:UnspecifiedMatching MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch OMIM:252930 mucopolysaccharidosis, iia 3c semapv:UnspecifiedMatching MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch Orphanet:79271 Sanfilippo syndrome type C semapv:UnspecifiedMatching MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch SCTID:75238000 semapv:UnspecifiedMatching MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch UMLS:C0086649 semapv:UnspecifiedMatching MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch DOID:0111402 mucopolysaccharidosis type IIID semapv:UnspecifiedMatching MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch NCIT:C84900 Mucopolysaccharidosis Type IIID semapv:UnspecifiedMatching MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch OMIM:252940 mucopolysaccharidosis, iia 3d semapv:UnspecifiedMatching MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch Orphanet:79272 Sanfilippo syndrome type D semapv:UnspecifiedMatching MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch SCTID:15892005 semapv:UnspecifiedMatching MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch UMLS:C0086650 semapv:UnspecifiedMatching MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch DOID:0111391 mucopolysaccharidosis IVA semapv:UnspecifiedMatching MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch NCIT:C84901 Mucopolysaccharidosis Type IVA semapv:UnspecifiedMatching MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:UnspecifiedMatching MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:UnspecifiedMatching MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch SCTID:7259005 semapv:UnspecifiedMatching MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch DOID:0111392 mucopolysaccharidosis type IVB semapv:UnspecifiedMatching MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch NCIT:C84902 Mucopolysaccharidosis Type IVB semapv:UnspecifiedMatching MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch OMIM:253010 mucopolysaccharidosis, iia 4b semapv:UnspecifiedMatching MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:UnspecifiedMatching MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch SCTID:238044004 semapv:UnspecifiedMatching MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch UMLS:C0086652 semapv:UnspecifiedMatching MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch DOID:12800 mucopolysaccharidosis VI semapv:UnspecifiedMatching MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch NCIT:C61264 Maroteaux-Lamy Syndrome semapv:UnspecifiedMatching MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch OMIM:253200 mucopolysaccharidosis, iia 6 semapv:UnspecifiedMatching MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:UnspecifiedMatching MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch SCTID:69463008 semapv:UnspecifiedMatching MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch UMLS:C0026709 semapv:UnspecifiedMatching MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch mesh:D009087 semapv:UnspecifiedMatching MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch DOID:12803 Sly syndrome semapv:UnspecifiedMatching MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch NCIT:C84903 Sly Syndrome semapv:UnspecifiedMatching MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch OMIM:253220 mucopolysaccharidosis, iia 7 semapv:UnspecifiedMatching MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:UnspecifiedMatching MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch SCTID:43916004 semapv:UnspecifiedMatching MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch UMLS:C0085132 semapv:UnspecifiedMatching MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch mesh:D016538 semapv:UnspecifiedMatching MONDO:0009663 mucus inspissation of respiratory tract skos:exactMatch OMIM:253240 mucus inspissation of respiratory tract semapv:UnspecifiedMatching MONDO:0009663 mucus inspissation of respiratory tract skos:exactMatch UMLS:C1854729 semapv:UnspecifiedMatching MONDO:0009663 mucus inspissation of respiratory tract skos:exactMatch mesh:C565366 semapv:UnspecifiedMatching MONDO:0009664 mulibrey nanism skos:exactMatch DOID:0050436 mulibrey nanism semapv:UnspecifiedMatching MONDO:0009664 mulibrey nanism skos:exactMatch NCIT:C84906 Mulibrey Nanism semapv:UnspecifiedMatching MONDO:0009664 mulibrey nanism skos:exactMatch OMIM:253250 mulibrey nanism semapv:UnspecifiedMatching MONDO:0009664 mulibrey nanism skos:exactMatch Orphanet:2576 Mulibrey nanism semapv:UnspecifiedMatching MONDO:0009664 mulibrey nanism skos:exactMatch SCTID:81604003 semapv:UnspecifiedMatching MONDO:0009664 mulibrey nanism skos:exactMatch UMLS:C0524582 semapv:UnspecifiedMatching MONDO:0009664 mulibrey nanism skos:exactMatch mesh:D050336 semapv:UnspecifiedMatching MONDO:0009665 biotinidase deficiency skos:exactMatch DOID:856 biotinidase deficiency semapv:UnspecifiedMatching MONDO:0009665 biotinidase deficiency skos:exactMatch ICD10CM:D81.810 Biotinidase deficiency semapv:UnspecifiedMatching MONDO:0009665 biotinidase deficiency skos:exactMatch NCIT:C84598 Biotinidase Deficiency semapv:UnspecifiedMatching MONDO:0009665 biotinidase deficiency skos:exactMatch OMIM:253260 biotinidase deficiency semapv:UnspecifiedMatching MONDO:0009665 biotinidase deficiency skos:exactMatch Orphanet:79241 Biotinidase deficiency semapv:UnspecifiedMatching MONDO:0009665 biotinidase deficiency skos:exactMatch SCTID:8808004 semapv:UnspecifiedMatching MONDO:0009665 biotinidase deficiency skos:exactMatch UMLS:C0220754 semapv:UnspecifiedMatching MONDO:0009665 biotinidase deficiency skos:exactMatch mesh:D028921 semapv:UnspecifiedMatching MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch DOID:859 holocarboxylase synthetase deficiency semapv:UnspecifiedMatching MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch NCIT:C98842 Holocarboxylase Synthetase Deficiency semapv:UnspecifiedMatching MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch OMIM:253270 holocarboxylase synthetase deficiency semapv:UnspecifiedMatching MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:UnspecifiedMatching MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch SCTID:15307001 semapv:UnspecifiedMatching MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch SCTID:360369003 semapv:UnspecifiedMatching MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch UMLS:C0268581 semapv:UnspecifiedMatching MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch mesh:D028922 semapv:UnspecifiedMatching MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:exactMatch DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 semapv:UnspecifiedMatching MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:exactMatch NCIT:C126740 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 3 semapv:UnspecifiedMatching MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:exactMatch OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 semapv:UnspecifiedMatching MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:exactMatch UMLS:C3151519 semapv:UnspecifiedMatching MONDO:0009668 lethal multiple pterygium syndrome skos:exactMatch NCIT:C101038 Lethal Multiple Pterygium Syndrome semapv:UnspecifiedMatching MONDO:0009668 lethal multiple pterygium syndrome skos:exactMatch OMIM:253290 multiple pterygium syndrome, lethal iia semapv:UnspecifiedMatching MONDO:0009668 lethal multiple pterygium syndrome skos:exactMatch Orphanet:33108 Lethal multiple pterygium syndrome semapv:UnspecifiedMatching MONDO:0009668 lethal multiple pterygium syndrome skos:exactMatch SCTID:60192008 semapv:UnspecifiedMatching MONDO:0009668 lethal multiple pterygium syndrome skos:exactMatch UMLS:C1854678 semapv:UnspecifiedMatching MONDO:0009669 spinal muscular atrophy, type 1 skos:broadMatch DOID:0060160 childhood spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch DOID:13137 Werdnig-Hoffmann disease semapv:UnspecifiedMatching MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch NCIT:C98670 Werdnig-Hoffmann Disease semapv:UnspecifiedMatching MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch OMIM:253300 spinal muscular atrophy, iia 1 semapv:UnspecifiedMatching MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:UnspecifiedMatching MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch SCTID:64383006 semapv:UnspecifiedMatching MONDO:0009670 lethal congenital contracture syndrome 1 skos:exactMatch DOID:0060559 lethal congenital contracture syndrome 1 semapv:UnspecifiedMatching MONDO:0009670 lethal congenital contracture syndrome 1 skos:exactMatch OMIM:253310 lethal congenital contracture syndrome 1 semapv:UnspecifiedMatching MONDO:0009670 lethal congenital contracture syndrome 1 skos:exactMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:UnspecifiedMatching MONDO:0009670 lethal congenital contracture syndrome 1 skos:exactMatch SCTID:715418007 semapv:UnspecifiedMatching MONDO:0009670 lethal congenital contracture syndrome 1 skos:exactMatch UMLS:C1854664 semapv:UnspecifiedMatching MONDO:0009670 lethal congenital contracture syndrome 1 skos:exactMatch mesh:C537194 semapv:UnspecifiedMatching MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:exactMatch OMIM:253320 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:exactMatch Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome semapv:UnspecifiedMatching MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:exactMatch SCTID:764959000 semapv:UnspecifiedMatching MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:exactMatch UMLS:C1854663 semapv:UnspecifiedMatching MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:exactMatch mesh:C535458 semapv:UnspecifiedMatching MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch DOID:12376 juvenile spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch NCIT:C118847 Spinal Muscular Atrophy Type 3 semapv:UnspecifiedMatching MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:UnspecifiedMatching MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:UnspecifiedMatching MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch SCTID:54280009 semapv:UnspecifiedMatching MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch UMLS:C0152109 semapv:UnspecifiedMatching MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch DOID:0050530 intermediate spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch OMIM:253550 spinal muscular atrophy, iia 2 semapv:UnspecifiedMatching MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:UnspecifiedMatching MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch SCTID:128212001 semapv:UnspecifiedMatching MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch mesh:C536879 semapv:UnspecifiedMatching MONDO:0009674 muscular dystrophy, adult-onset, with leukoencephalopathy skos:exactMatch OMIM:253590 muscular dystrophy, adult-onset, with leukoencephalopathy semapv:UnspecifiedMatching MONDO:0009674 muscular dystrophy, adult-onset, with leukoencephalopathy skos:exactMatch UMLS:C1854646 semapv:UnspecifiedMatching MONDO:0009674 muscular dystrophy, adult-onset, with leukoencephalopathy skos:exactMatch mesh:C565361 semapv:UnspecifiedMatching MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A semapv:UnspecifiedMatching MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch NCIT:C142079 Limb-Girdle Muscular Dystrophy Type 2A semapv:UnspecifiedMatching MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 semapv:UnspecifiedMatching MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:UnspecifiedMatching MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch SCTID:715341003 semapv:UnspecifiedMatching MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch mesh:C535895 semapv:UnspecifiedMatching MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B semapv:UnspecifiedMatching MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch NCIT:C142080 Limb-Girdle Muscular Dystrophy Type 2B semapv:UnspecifiedMatching MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch OMIM:253601 muscular dystrophy, limb-girdle, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 semapv:UnspecifiedMatching MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch SCTID:718179003 semapv:UnspecifiedMatching MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch mesh:C535899 semapv:UnspecifiedMatching MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:exactMatch DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C semapv:UnspecifiedMatching MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:exactMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:UnspecifiedMatching MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:exactMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:UnspecifiedMatching MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:exactMatch UMLS:C0410173 semapv:UnspecifiedMatching MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:exactMatch mesh:C535900 semapv:UnspecifiedMatching MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch DOID:0050559 Fukuyama congenital muscular dystrophy semapv:UnspecifiedMatching MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch NCIT:C126741 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 4 semapv:UnspecifiedMatching MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch OMIM:253800 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 4 semapv:UnspecifiedMatching MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:UnspecifiedMatching MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch SCTID:111502003 semapv:UnspecifiedMatching MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch UMLS:C0410174 semapv:UnspecifiedMatching MONDO:0009679 arthrogryposis due to muscular dystrophy skos:exactMatch UMLS:C1850865 semapv:UnspecifiedMatching MONDO:0009679 arthrogryposis due to muscular dystrophy skos:exactMatch mesh:C564985 semapv:UnspecifiedMatching MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:exactMatch OMIM:254000 muscular dystrophy, congenital, with infantile cataract and hypogonadism semapv:UnspecifiedMatching MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:exactMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:exactMatch UMLS:C1850864 semapv:UnspecifiedMatching MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:exactMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:UnspecifiedMatching MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:exactMatch UMLS:C0410179 semapv:UnspecifiedMatching MONDO:0009682 muscular dystrophy, congenital, with rapid progression skos:exactMatch OMIM:254100 muscular dystrophy, congenital, with rapid progression semapv:UnspecifiedMatching MONDO:0009682 muscular dystrophy, congenital, with rapid progression skos:exactMatch UMLS:C1850840 semapv:UnspecifiedMatching MONDO:0009682 muscular dystrophy, congenital, with rapid progression skos:exactMatch mesh:C564983 semapv:UnspecifiedMatching MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H semapv:UnspecifiedMatching MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 semapv:UnspecifiedMatching MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:UnspecifiedMatching MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch SCTID:43226001 semapv:UnspecifiedMatching MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch UMLS:C0270968 semapv:UnspecifiedMatching MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch mesh:C535897 semapv:UnspecifiedMatching MONDO:0009684 muscular hypertonia, lethal skos:exactMatch OMIM:254120 muscular hypertonia, lethal semapv:UnspecifiedMatching MONDO:0009684 muscular hypertonia, lethal skos:exactMatch UMLS:C1850827 semapv:UnspecifiedMatching MONDO:0009684 muscular hypertonia, lethal skos:exactMatch mesh:C564982 semapv:UnspecifiedMatching MONDO:0009685 Miyoshi myopathy skos:exactMatch DOID:0070198 Miyoshi muscular dystrophy semapv:UnspecifiedMatching MONDO:0009685 Miyoshi myopathy skos:exactMatch NCIT:C118846 Miyoshi Muscular Dystrophy 1 semapv:UnspecifiedMatching MONDO:0009685 Miyoshi myopathy skos:exactMatch OMIMPS:254130 semapv:UnspecifiedMatching MONDO:0009685 Miyoshi myopathy skos:exactMatch Orphanet:45448 Miyoshi myopathy semapv:UnspecifiedMatching MONDO:0009685 Miyoshi myopathy skos:exactMatch mesh:C537480 semapv:UnspecifiedMatching MONDO:0009686 musk, inability to smell skos:exactMatch OMIM:254150 musk, inability to smell semapv:UnspecifiedMatching MONDO:0009686 musk, inability to smell skos:exactMatch UMLS:C1850807 semapv:UnspecifiedMatching MONDO:0009686 musk, inability to smell skos:exactMatch mesh:C564980 semapv:UnspecifiedMatching MONDO:0009687 myasthenia, congenital, refractory to acetylcholinesterase inhibitors skos:exactMatch OMIM:254190 myasthenia, congenital, refractory to acetylcholinesterase inhibitors semapv:UnspecifiedMatching MONDO:0009687 myasthenia, congenital, refractory to acetylcholinesterase inhibitors skos:exactMatch UMLS:C1850806 semapv:UnspecifiedMatching MONDO:0009687 myasthenia, congenital, refractory to acetylcholinesterase inhibitors skos:exactMatch mesh:C564979 semapv:UnspecifiedMatching MONDO:0009688 myasthenia gravis skos:exactMatch DOID:437 myasthenia gravis semapv:UnspecifiedMatching MONDO:0009688 myasthenia gravis skos:exactMatch ICD10CM:G70.0 Myasthenia gravis semapv:UnspecifiedMatching MONDO:0009688 myasthenia gravis skos:exactMatch NCIT:C60989 Myasthenia Gravis semapv:UnspecifiedMatching MONDO:0009688 myasthenia gravis skos:exactMatch OMIM:254200 myasthenia gravis semapv:UnspecifiedMatching MONDO:0009688 myasthenia gravis skos:exactMatch Orphanet:589 Myasthenia gravis semapv:UnspecifiedMatching MONDO:0009688 myasthenia gravis skos:exactMatch SCTID:91637004 semapv:UnspecifiedMatching MONDO:0009688 myasthenia gravis skos:exactMatch UMLS:C0026896 semapv:UnspecifiedMatching MONDO:0009688 myasthenia gravis skos:exactMatch mesh:D009157 semapv:UnspecifiedMatching MONDO:0009689 congenital myasthenic syndrome 6 skos:exactMatch DOID:0110671 congenital myasthenic syndrome 6 semapv:UnspecifiedMatching MONDO:0009689 congenital myasthenic syndrome 6 skos:exactMatch NCIT:C132292 Presynaptic Congenital Myasthenic Syndrome 6 semapv:UnspecifiedMatching MONDO:0009689 congenital myasthenic syndrome 6 skos:exactMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:UnspecifiedMatching MONDO:0009689 congenital myasthenic syndrome 6 skos:exactMatch SCTID:230670003 semapv:UnspecifiedMatching MONDO:0009689 congenital myasthenic syndrome 6 skos:exactMatch UMLS:C0393929 semapv:UnspecifiedMatching MONDO:0009689 congenital myasthenic syndrome 6 skos:exactMatch mesh:C535759 semapv:UnspecifiedMatching MONDO:0009690 congenital myasthenic syndrome 10 skos:exactMatch DOID:0110668 congenital myasthenic syndrome 10 semapv:UnspecifiedMatching MONDO:0009690 congenital myasthenic syndrome 10 skos:exactMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:UnspecifiedMatching MONDO:0009690 congenital myasthenic syndrome 10 skos:exactMatch SCTID:230687001 semapv:UnspecifiedMatching MONDO:0009690 congenital myasthenic syndrome 10 skos:exactMatch UMLS:C1836133 semapv:UnspecifiedMatching MONDO:0009690 congenital myasthenic syndrome 10 skos:exactMatch mesh:C563716 semapv:UnspecifiedMatching MONDO:0009691 mycosis fungoides skos:exactMatch DOID:8691 mycosis fungoides semapv:UnspecifiedMatching MONDO:0009691 mycosis fungoides skos:exactMatch ICD10CM:C84.0 Mycosis fungoides semapv:UnspecifiedMatching MONDO:0009691 mycosis fungoides skos:exactMatch NCIT:C3246 Mycosis Fungoides semapv:UnspecifiedMatching MONDO:0009691 mycosis fungoides skos:exactMatch OMIM:254400 mycosis fungoides semapv:UnspecifiedMatching MONDO:0009691 mycosis fungoides skos:exactMatch Orphanet:2584 Classic mycosis fungoides semapv:UnspecifiedMatching MONDO:0009691 mycosis fungoides skos:exactMatch SCTID:118618005 semapv:UnspecifiedMatching MONDO:0009691 mycosis fungoides skos:exactMatch UMLS:C0026948 semapv:UnspecifiedMatching MONDO:0009691 mycosis fungoides skos:exactMatch mesh:D009182 semapv:UnspecifiedMatching MONDO:0009692 primary myelofibrosis skos:exactMatch DOID:4971 myelofibrosis semapv:UnspecifiedMatching MONDO:0009692 primary myelofibrosis skos:exactMatch NCIT:C2862 Primary Myelofibrosis semapv:UnspecifiedMatching MONDO:0009692 primary myelofibrosis skos:exactMatch OMIM:254450 myelofibrosis semapv:UnspecifiedMatching MONDO:0009692 primary myelofibrosis skos:exactMatch Orphanet:824 Primary myelofibrosis semapv:UnspecifiedMatching MONDO:0009692 primary myelofibrosis skos:exactMatch UMLS:C0001815 semapv:UnspecifiedMatching MONDO:0009692 primary myelofibrosis skos:exactMatch mesh:D055728 semapv:UnspecifiedMatching MONDO:0009693 plasma cell myeloma skos:exactMatch DOID:9538 multiple myeloma semapv:UnspecifiedMatching MONDO:0009693 plasma cell myeloma skos:exactMatch ICD10CM:C90.0 Multiple myeloma semapv:UnspecifiedMatching MONDO:0009693 plasma cell myeloma skos:exactMatch NCIT:C3242 Multiple Myeloma semapv:UnspecifiedMatching MONDO:0009693 plasma cell myeloma skos:exactMatch OMIM:254500 myeloma, multiple semapv:UnspecifiedMatching MONDO:0009693 plasma cell myeloma skos:exactMatch Orphanet:29073 Multiple myeloma semapv:UnspecifiedMatching MONDO:0009693 plasma cell myeloma skos:exactMatch UMLS:C0026764 semapv:UnspecifiedMatching MONDO:0009693 plasma cell myeloma skos:exactMatch mesh:D009101 semapv:UnspecifiedMatching MONDO:0009694 myeloperoxidase deficiency skos:exactMatch OMIM:254600 myeloperoxidase deficiency semapv:UnspecifiedMatching MONDO:0009694 myeloperoxidase deficiency skos:exactMatch Orphanet:2587 Myeloperoxidase deficiency semapv:UnspecifiedMatching MONDO:0009694 myeloperoxidase deficiency skos:exactMatch SCTID:234433009 semapv:UnspecifiedMatching MONDO:0009694 myeloperoxidase deficiency skos:exactMatch UMLS:C0398595 semapv:UnspecifiedMatching MONDO:0009694 myeloperoxidase deficiency skos:exactMatch mesh:C562864 semapv:UnspecifiedMatching MONDO:0009695 myeloproliferative disease, autosomal recessive skos:exactMatch OMIM:254700 myeloproliferative disease, autosomal recessive semapv:UnspecifiedMatching MONDO:0009695 myeloproliferative disease, autosomal recessive skos:exactMatch UMLS:C1850779 semapv:UnspecifiedMatching MONDO:0009695 myeloproliferative disease, autosomal recessive skos:exactMatch mesh:C564977 semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch DOID:4890 juvenile myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch NCIT:C84796 Juvenile Myoclonic Epilepsy semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch OMIMPS:254770 semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch SCTID:6204001 semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch UMLS:C0270853 semapv:UnspecifiedMatching MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch mesh:D020190 semapv:UnspecifiedMatching MONDO:0009697 Lafora disease skos:exactMatch DOID:3534 Lafora disease semapv:UnspecifiedMatching MONDO:0009697 Lafora disease skos:exactMatch NCIT:C84804 Lafora Disease semapv:UnspecifiedMatching MONDO:0009697 Lafora disease skos:exactMatch OMIMPS:254780 semapv:UnspecifiedMatching MONDO:0009697 Lafora disease skos:exactMatch Orphanet:501 Lafora disease semapv:UnspecifiedMatching MONDO:0009697 Lafora disease skos:exactMatch SCTID:230425004 semapv:UnspecifiedMatching MONDO:0009697 Lafora disease skos:exactMatch UMLS:C0751783 semapv:UnspecifiedMatching MONDO:0009697 Lafora disease skos:exactMatch mesh:D020192 semapv:UnspecifiedMatching MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch DOID:0111452 progressive myoclonus epilepsy 1A semapv:UnspecifiedMatching MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch DOID:3535 Unverricht-Lundborg syndrome semapv:UnspecifiedMatching MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:UnspecifiedMatching MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:UnspecifiedMatching MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch SCTID:230423006 semapv:UnspecifiedMatching MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch UMLS:C0751785 semapv:UnspecifiedMatching MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch mesh:D020194 semapv:UnspecifiedMatching MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:UnspecifiedMatching MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch OMIM:254900 epilepsy, progressive myoclonic, 4, with or without renal failure semapv:UnspecifiedMatching MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch Orphanet:163696 Action myoclonus-renal failure syndrome semapv:UnspecifiedMatching MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch SCTID:764453009 semapv:UnspecifiedMatching MONDO:0009701 myopathy, granulovacuolar lobular, with electrical myotonia skos:exactMatch OMIM:254950 myopathy, granulovacuolar lobular, with electrical myotonia semapv:UnspecifiedMatching MONDO:0009701 myopathy, granulovacuolar lobular, with electrical myotonia skos:exactMatch UMLS:C1850745 semapv:UnspecifiedMatching MONDO:0009701 myopathy, granulovacuolar lobular, with electrical myotonia skos:exactMatch mesh:C564974 semapv:UnspecifiedMatching MONDO:0009702 myopathy due to malate-aspartate shuttle defect skos:exactMatch OMIM:254960 myopathy due to malate-aspartate shuttle defect semapv:UnspecifiedMatching MONDO:0009702 myopathy due to malate-aspartate shuttle defect skos:exactMatch UMLS:C1850744 semapv:UnspecifiedMatching MONDO:0009702 myopathy due to malate-aspartate shuttle defect skos:exactMatch mesh:C564973 semapv:UnspecifiedMatching MONDO:0009703 myopathy with abnormal lipid metabolism skos:exactMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:UnspecifiedMatching MONDO:0009703 myopathy with abnormal lipid metabolism skos:exactMatch mesh:C562935 semapv:UnspecifiedMatching MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:exactMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:UnspecifiedMatching MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:exactMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:UnspecifiedMatching MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:exactMatch UMLS:C1833508 semapv:UnspecifiedMatching MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:exactMatch mesh:C563461 semapv:UnspecifiedMatching MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch DOID:0090129 carnitine palmitoyltransferase I deficiency semapv:UnspecifiedMatching MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch NCIT:C98871 Carnitine Palmitoyltransferase I Deficiency semapv:UnspecifiedMatching MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:UnspecifiedMatching MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:UnspecifiedMatching MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch SCTID:238001003 semapv:UnspecifiedMatching MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch UMLS:C1829703 semapv:UnspecifiedMatching MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch mesh:C535588 semapv:UnspecifiedMatching MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:exactMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:UnspecifiedMatching MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:exactMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:UnspecifiedMatching MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:exactMatch SCTID:699268002 semapv:UnspecifiedMatching MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:exactMatch UMLS:C1850718 semapv:UnspecifiedMatching MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:exactMatch mesh:C564972 semapv:UnspecifiedMatching MONDO:0009707 myopathy with giant abnormal mitochondria skos:exactMatch OMIM:255140 myopathy with giant abnormal mitochondria semapv:UnspecifiedMatching MONDO:0009707 myopathy with giant abnormal mitochondria skos:exactMatch UMLS:C1850717 semapv:UnspecifiedMatching MONDO:0009707 myopathy with giant abnormal mitochondria skos:exactMatch mesh:C564971 semapv:UnspecifiedMatching MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:exactMatch DOID:0111268 autosomal recessive hyaline body myopathy semapv:UnspecifiedMatching MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:exactMatch OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive semapv:UnspecifiedMatching MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:exactMatch Orphanet:636970 Autosomal recessive myosin storage myopathy semapv:UnspecifiedMatching MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:exactMatch UMLS:C1850709 semapv:UnspecifiedMatching MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:exactMatch mesh:C564970 semapv:UnspecifiedMatching MONDO:0009709 myopathy, centronuclear, 2 skos:exactMatch DOID:0111220 centronuclear myopathy 2 semapv:UnspecifiedMatching MONDO:0009709 myopathy, centronuclear, 2 skos:exactMatch OMIM:255200 myopathy, centronuclear, 2 semapv:UnspecifiedMatching MONDO:0009709 myopathy, centronuclear, 2 skos:exactMatch mesh:C562934 semapv:UnspecifiedMatching MONDO:0009710 Thomsen and Becker disease skos:exactMatch DOID:2106 myotonia congenita semapv:UnspecifiedMatching MONDO:0009710 Thomsen and Becker disease skos:exactMatch ICD10CM:G71.12 Myotonia congenita semapv:UnspecifiedMatching MONDO:0009710 Thomsen and Becker disease skos:exactMatch NCIT:C84912 Myotonia Congenita semapv:UnspecifiedMatching MONDO:0009710 Thomsen and Becker disease skos:exactMatch Orphanet:614 Thomsen and Becker disease semapv:UnspecifiedMatching MONDO:0009710 Thomsen and Becker disease skos:exactMatch SCTID:726051002 semapv:UnspecifiedMatching MONDO:0009710 Thomsen and Becker disease skos:exactMatch mesh:D009224 semapv:UnspecifiedMatching MONDO:0009711 congenital fiber-type disproportion myopathy skos:exactMatch DOID:0080102 congenital myopathy 4A semapv:UnspecifiedMatching MONDO:0009711 congenital fiber-type disproportion myopathy skos:exactMatch NCIT:C120046 Congenital Fiber-Type Disproportion semapv:UnspecifiedMatching MONDO:0009711 congenital fiber-type disproportion myopathy skos:exactMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:UnspecifiedMatching MONDO:0009711 congenital fiber-type disproportion myopathy skos:exactMatch UMLS:C0546264 semapv:UnspecifiedMatching MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:exactMatch NCIT:C150608 Minicore Myopathy with External Ophthalmoplegia semapv:UnspecifiedMatching MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:exactMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:UnspecifiedMatching MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:exactMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:UnspecifiedMatching MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:exactMatch UMLS:C1850674 semapv:UnspecifiedMatching MONDO:0009713 myopia 18, autosomal recessive skos:exactMatch OMIM:255500 myopia 18, autosomal recessive semapv:UnspecifiedMatching MONDO:0009713 myopia 18, autosomal recessive skos:exactMatch UMLS:C2749509 semapv:UnspecifiedMatching MONDO:0009713 myopia 18, autosomal recessive skos:exactMatch mesh:C567606 semapv:UnspecifiedMatching MONDO:0009714 myosclerosis skos:exactMatch OMIM:255600 myosclerosis, autosomal recessive semapv:UnspecifiedMatching MONDO:0009714 myosclerosis skos:exactMatch Orphanet:289380 Myosclerosis semapv:UnspecifiedMatching MONDO:0009714 myosclerosis skos:exactMatch SCTID:763895001 semapv:UnspecifiedMatching MONDO:0009714 myosclerosis skos:exactMatch mesh:C564968 semapv:UnspecifiedMatching MONDO:0009715 myotonia congenita, autosomal recessive skos:exactMatch OMIM:255700 myotonia congenita, autosomal recessive semapv:UnspecifiedMatching MONDO:0009715 myotonia congenita, autosomal recessive skos:exactMatch UMLS:C0751360 semapv:UnspecifiedMatching MONDO:0009716 Richieri Costa-da Silva syndrome skos:exactMatch OMIM:255710 myotonia with skeletal abnormalities and mental retardation semapv:UnspecifiedMatching MONDO:0009716 Richieri Costa-da Silva syndrome skos:exactMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:UnspecifiedMatching MONDO:0009716 Richieri Costa-da Silva syndrome skos:exactMatch UMLS:C2930978 semapv:UnspecifiedMatching MONDO:0009716 Richieri Costa-da Silva syndrome skos:exactMatch mesh:C535675 semapv:UnspecifiedMatching MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch NCIT:C35008 Schwartz-Jampel Syndrome semapv:UnspecifiedMatching MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:UnspecifiedMatching MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch SCTID:29145002 semapv:UnspecifiedMatching MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch UMLS:C0036391 semapv:UnspecifiedMatching MONDO:0009718 myxedema skos:exactMatch DOID:11634 myxedema semapv:UnspecifiedMatching MONDO:0009718 myxedema skos:exactMatch NCIT:C34834 Myxedema semapv:UnspecifiedMatching MONDO:0009718 myxedema skos:exactMatch OMIM:255900 myxedema semapv:UnspecifiedMatching MONDO:0009718 myxedema skos:exactMatch SCTID:43153006 semapv:UnspecifiedMatching MONDO:0009718 myxedema skos:exactMatch UMLS:C0027145 semapv:UnspecifiedMatching MONDO:0009718 myxedema skos:exactMatch mesh:D009230 semapv:UnspecifiedMatching MONDO:0009719 familial atrial myxoma skos:exactMatch OMIM:255960 myxoma, intracardiac semapv:UnspecifiedMatching MONDO:0009719 familial atrial myxoma skos:exactMatch Orphanet:615 Familial atrial myxoma semapv:UnspecifiedMatching MONDO:0009719 familial atrial myxoma skos:exactMatch SCTID:233855002 semapv:UnspecifiedMatching MONDO:0009719 familial atrial myxoma skos:exactMatch UMLS:C2931787 semapv:UnspecifiedMatching MONDO:0009719 familial atrial myxoma skos:exactMatch mesh:C538262 semapv:UnspecifiedMatching MONDO:0009720 Keipert syndrome skos:exactMatch DOID:0111842 Keipert syndrome semapv:UnspecifiedMatching MONDO:0009720 Keipert syndrome skos:exactMatch NCIT:C186306 Keipert Syndrome semapv:UnspecifiedMatching MONDO:0009720 Keipert syndrome skos:exactMatch OMIM:301026 keipert syndrome semapv:UnspecifiedMatching MONDO:0009720 Keipert syndrome skos:exactMatch Orphanet:2662 Keipert syndrome semapv:UnspecifiedMatching MONDO:0009720 Keipert syndrome skos:exactMatch SCTID:763774001 semapv:UnspecifiedMatching MONDO:0009720 Keipert syndrome skos:exactMatch UMLS:C1850627 semapv:UnspecifiedMatching MONDO:0009720 Keipert syndrome skos:exactMatch mesh:C538337 semapv:UnspecifiedMatching MONDO:0009721 Nathalie syndrome skos:exactMatch OMIM:255990 nathalie syndrome semapv:UnspecifiedMatching MONDO:0009721 Nathalie syndrome skos:exactMatch Orphanet:2663 Nathalie syndrome semapv:UnspecifiedMatching MONDO:0009721 Nathalie syndrome skos:exactMatch SCTID:716170005 semapv:UnspecifiedMatching MONDO:0009721 Nathalie syndrome skos:exactMatch UMLS:C1850626 semapv:UnspecifiedMatching MONDO:0009721 Nathalie syndrome skos:exactMatch mesh:C538342 semapv:UnspecifiedMatching MONDO:0009722 Bailey-Bloch congenital myopathy skos:exactMatch DOID:0060346 Native American myopathy semapv:UnspecifiedMatching MONDO:0009722 Bailey-Bloch congenital myopathy skos:exactMatch OMIM:255995 congenital myopathy 13 semapv:UnspecifiedMatching MONDO:0009722 Bailey-Bloch congenital myopathy skos:exactMatch Orphanet:168572 Native American myopathy semapv:UnspecifiedMatching MONDO:0009722 Bailey-Bloch congenital myopathy skos:exactMatch SCTID:723439002 semapv:UnspecifiedMatching MONDO:0009722 Bailey-Bloch congenital myopathy skos:exactMatch UMLS:C1850625 semapv:UnspecifiedMatching MONDO:0009722 Bailey-Bloch congenital myopathy skos:exactMatch mesh:C538343 semapv:UnspecifiedMatching MONDO:0009723 Leigh syndrome skos:exactMatch DOID:3652 Leigh disease semapv:UnspecifiedMatching MONDO:0009723 Leigh syndrome skos:exactMatch NCIT:C84814 Leigh Disease semapv:UnspecifiedMatching MONDO:0009723 Leigh syndrome skos:exactMatch OMIM:256000 leigh syndrome semapv:UnspecifiedMatching MONDO:0009723 Leigh syndrome skos:exactMatch Orphanet:506 Leigh syndrome semapv:UnspecifiedMatching MONDO:0009723 Leigh syndrome skos:exactMatch SCTID:29570005 semapv:UnspecifiedMatching MONDO:0009723 Leigh syndrome skos:exactMatch UMLS:C0023264 semapv:UnspecifiedMatching MONDO:0009723 Leigh syndrome skos:exactMatch mesh:D007888 semapv:UnspecifiedMatching MONDO:0009724 nail-patella-like renal disease skos:exactMatch OMIM:256020 focal segmental glomerulosclerosis 10 semapv:UnspecifiedMatching MONDO:0009724 nail-patella-like renal disease skos:exactMatch Orphanet:2613 Nail-patella-like renal disease semapv:UnspecifiedMatching MONDO:0009724 nail-patella-like renal disease skos:exactMatch SCTID:236527004 semapv:UnspecifiedMatching MONDO:0009724 nail-patella-like renal disease skos:exactMatch UMLS:C0403548 semapv:UnspecifiedMatching MONDO:0009724 nail-patella-like renal disease skos:exactMatch mesh:C537228 semapv:UnspecifiedMatching MONDO:0009725 nemaline myopathy 2 skos:exactMatch DOID:0110928 nemaline myopathy 2 semapv:UnspecifiedMatching MONDO:0009725 nemaline myopathy 2 skos:exactMatch NCIT:C118784 Nemaline Myopathy 2 semapv:UnspecifiedMatching MONDO:0009725 nemaline myopathy 2 skos:exactMatch OMIM:256030 nemaline myopathy 2 semapv:UnspecifiedMatching MONDO:0009725 nemaline myopathy 2 skos:exactMatch UMLS:C1850569 semapv:UnspecifiedMatching MONDO:0009725 nemaline myopathy 2 skos:exactMatch mesh:C538349 semapv:UnspecifiedMatching MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch DOID:0050553 proteasome-associated autoinflammatory syndrome 1 semapv:UnspecifiedMatching MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIMPS:256040 semapv:UnspecifiedMatching MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:UnspecifiedMatching MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch SCTID:702449004 semapv:UnspecifiedMatching MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch mesh:C538334 semapv:UnspecifiedMatching MONDO:0009727 atelosteogenesis type II skos:exactMatch OMIM:256050 atelosteogenesis, iia 2 semapv:UnspecifiedMatching MONDO:0009727 atelosteogenesis type II skos:exactMatch Orphanet:56304 Atelosteogenesis type II semapv:UnspecifiedMatching MONDO:0009727 atelosteogenesis type II skos:exactMatch SCTID:254055004 semapv:UnspecifiedMatching MONDO:0009727 atelosteogenesis type II skos:exactMatch UMLS:C1850554 semapv:UnspecifiedMatching MONDO:0009727 atelosteogenesis type II skos:exactMatch mesh:C535395 semapv:UnspecifiedMatching MONDO:0009728 nephronophthisis 1 skos:exactMatch DOID:0111112 nephronophthisis 1 semapv:UnspecifiedMatching MONDO:0009728 nephronophthisis 1 skos:exactMatch NCIT:C74998 Nephronophthisis 1 semapv:UnspecifiedMatching MONDO:0009728 nephronophthisis 1 skos:exactMatch OMIM:256100 nephronophthisis 1 semapv:UnspecifiedMatching MONDO:0009728 nephronophthisis 1 skos:exactMatch Orphanet:93592 Juvenile nephronophthisis semapv:UnspecifiedMatching MONDO:0009728 nephronophthisis 1 skos:exactMatch SCTID:444830001 semapv:UnspecifiedMatching MONDO:0009728 nephronophthisis 1 skos:exactMatch UMLS:C1855681 semapv:UnspecifiedMatching MONDO:0009728 nephronophthisis 1 skos:exactMatch mesh:C537699 semapv:UnspecifiedMatching MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:exactMatch OMIM:256120 nephropathy, deafness, and hyperparathyroidism semapv:UnspecifiedMatching MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:exactMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:UnspecifiedMatching MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:exactMatch SCTID:724093004 semapv:UnspecifiedMatching MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:exactMatch UMLS:C1850553 semapv:UnspecifiedMatching MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:exactMatch mesh:C536401 semapv:UnspecifiedMatching MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:exactMatch OMIM:256200 nephrosis with deafness and urinary tract and digital malformations semapv:UnspecifiedMatching MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:exactMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:UnspecifiedMatching MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:exactMatch UMLS:C1850552 semapv:UnspecifiedMatching MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:exactMatch mesh:C536402 semapv:UnspecifiedMatching MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch DOID:0080390 nephrotic syndrome type 1 semapv:UnspecifiedMatching MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch NCIT:C122795 Nephrotic Syndrome - NPHS1 Associated semapv:UnspecifiedMatching MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch OMIM:256300 nephrotic syndrome, iia 1 semapv:UnspecifiedMatching MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:UnspecifiedMatching MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch SCTID:197601003 semapv:UnspecifiedMatching MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch UMLS:C0403399 semapv:UnspecifiedMatching MONDO:0009733 nephrotic syndrome, type 4 skos:exactMatch DOID:0080383 nephrotic syndrome type 4 semapv:UnspecifiedMatching MONDO:0009733 nephrotic syndrome, type 4 skos:exactMatch NCIT:C121198 Congenital Nephrotic Syndrome - Diffuse Mesangial Sclerosis semapv:UnspecifiedMatching MONDO:0009733 nephrotic syndrome, type 4 skos:exactMatch OMIM:256370 nephrotic syndrome, iia 4 semapv:UnspecifiedMatching MONDO:0009733 nephrotic syndrome, type 4 skos:exactMatch UMLS:C3151568 semapv:UnspecifiedMatching MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:exactMatch DOID:0070219 familial hyperinsulinemic hypoglycemia 1 semapv:UnspecifiedMatching MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:exactMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:UnspecifiedMatching MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:exactMatch SCTID:360339005 semapv:UnspecifiedMatching MONDO:0009735 Netherton syndrome skos:exactMatch DOID:0050474 Netherton syndrome semapv:UnspecifiedMatching MONDO:0009735 Netherton syndrome skos:exactMatch NCIT:C84922 Netherton Syndrome semapv:UnspecifiedMatching MONDO:0009735 Netherton syndrome skos:exactMatch OMIM:256500 netherton syndrome semapv:UnspecifiedMatching MONDO:0009735 Netherton syndrome skos:exactMatch Orphanet:634 Netherton syndrome semapv:UnspecifiedMatching MONDO:0009735 Netherton syndrome skos:exactMatch SCTID:312514006 semapv:UnspecifiedMatching MONDO:0009735 Netherton syndrome skos:exactMatch mesh:D056770 semapv:UnspecifiedMatching MONDO:0009736 Neu-Laxova syndrome 1 skos:exactMatch DOID:0080076 Neu-Laxova syndrome 1 semapv:UnspecifiedMatching MONDO:0009736 Neu-Laxova syndrome 1 skos:exactMatch OMIM:256520 neu-laxova syndrome 1 semapv:UnspecifiedMatching MONDO:0009736 Neu-Laxova syndrome 1 skos:exactMatch Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0009736 Neu-Laxova syndrome 1 skos:exactMatch UMLS:C4551478 semapv:UnspecifiedMatching MONDO:0009737 galactosialidosis skos:exactMatch DOID:0080540 galactosialidosis semapv:UnspecifiedMatching MONDO:0009737 galactosialidosis skos:exactMatch NCIT:C129928 Galactosialidosis semapv:UnspecifiedMatching MONDO:0009737 galactosialidosis skos:exactMatch OMIM:256540 galactosialidosis semapv:UnspecifiedMatching MONDO:0009737 galactosialidosis skos:exactMatch Orphanet:351 Galactosialidosis semapv:UnspecifiedMatching MONDO:0009737 galactosialidosis skos:exactMatch SCTID:35691006 semapv:UnspecifiedMatching MONDO:0009737 galactosialidosis skos:exactMatch UMLS:C0268233 semapv:UnspecifiedMatching MONDO:0009737 galactosialidosis skos:exactMatch mesh:C536411 semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch DOID:3343 glycoproteinosis semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch NCIT:C125596 Neuraminidase Deficiency semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch OMIM:256150 nephrosialidosis semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch OMIM:256550 neuraminidase deficiency semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch Orphanet:87876 Sialidosis type 2 semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch SCTID:52186006 semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch SCTID:81896006 semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch UMLS:C4282398 semapv:UnspecifiedMatching MONDO:0009738 sialidosis type 2 skos:exactMatch mesh:C562606 semapv:UnspecifiedMatching MONDO:0009740 neurofaciodigitorenal syndrome skos:exactMatch OMIM:256690 neurofaciodigitorenal syndrome semapv:UnspecifiedMatching MONDO:0009740 neurofaciodigitorenal syndrome skos:exactMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:UnspecifiedMatching MONDO:0009740 neurofaciodigitorenal syndrome skos:exactMatch SCTID:725908007 semapv:UnspecifiedMatching MONDO:0009740 neurofaciodigitorenal syndrome skos:exactMatch UMLS:C0796088 semapv:UnspecifiedMatching MONDO:0009740 neurofaciodigitorenal syndrome skos:exactMatch mesh:C537388 semapv:UnspecifiedMatching MONDO:0009741 neuroblastoma, susceptibility to, 1 skos:exactMatch OMIM:256700 neuroblastoma, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0009742 neuroectodermal melanolysosomal disease skos:exactMatch OMIM:256710 elejalde neuroectodermal melanolysosomal syndrome semapv:UnspecifiedMatching MONDO:0009742 neuroectodermal melanolysosomal disease skos:exactMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:UnspecifiedMatching MONDO:0009742 neuroectodermal melanolysosomal disease skos:exactMatch SCTID:724091002 semapv:UnspecifiedMatching MONDO:0009742 neuroectodermal melanolysosomal disease skos:exactMatch UMLS:C1860157 semapv:UnspecifiedMatching MONDO:0009742 neuroectodermal melanolysosomal disease skos:exactMatch mesh:C536203 semapv:UnspecifiedMatching MONDO:0009743 neurologic disease, infantile multisystem, with osseous fragility skos:exactMatch OMIM:256720 neurologic disease, infantile multisystem, with osseous fragility semapv:UnspecifiedMatching MONDO:0009743 neurologic disease, infantile multisystem, with osseous fragility skos:exactMatch UMLS:C1850465 semapv:UnspecifiedMatching MONDO:0009743 neurologic disease, infantile multisystem, with osseous fragility skos:exactMatch mesh:C564954 semapv:UnspecifiedMatching MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch DOID:0110721 neuronal ceroid lipofuscinosis 1 semapv:UnspecifiedMatching MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch NCIT:C85861 Neuronal Ceroid Lipofuscinosis Type 1 semapv:UnspecifiedMatching MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:UnspecifiedMatching MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch Orphanet:228329 OBSOLETE: CLN1 disease semapv:UnspecifiedMatching MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch SCTID:720830009 semapv:UnspecifiedMatching MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:exactMatch DOID:0110728 neuronal ceroid lipofuscinosis 5 semapv:UnspecifiedMatching MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:exactMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:UnspecifiedMatching MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:exactMatch Orphanet:228360 OBSOLETE: CLN5 disease semapv:UnspecifiedMatching MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:exactMatch mesh:C575534 semapv:UnspecifiedMatching MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch DOID:0070146 hereditary sensory neuropathy type 4 semapv:UnspecifiedMatching MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch NCIT:C118633 Neuropathy, Hereditary Sensory and Autonomic, Type IV semapv:UnspecifiedMatching MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch OMIM:256800 insensitivity to pain, congenital, with anhidrosis semapv:UnspecifiedMatching MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:UnspecifiedMatching MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch SCTID:62985007 semapv:UnspecifiedMatching MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch UMLS:C0020074 semapv:UnspecifiedMatching MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:exactMatch DOID:0080125 mitochondrial DNA depletion syndrome 6 semapv:UnspecifiedMatching MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:exactMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:UnspecifiedMatching MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:exactMatch Orphanet:255229 Navajo neurohepatopathy semapv:UnspecifiedMatching MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:exactMatch mesh:C538344 semapv:UnspecifiedMatching MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:exactMatch OMIM:256840 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive semapv:UnspecifiedMatching MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:exactMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:UnspecifiedMatching MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:exactMatch SCTID:717827000 semapv:UnspecifiedMatching MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:exactMatch UMLS:C1850395 semapv:UnspecifiedMatching MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:exactMatch mesh:C564948 semapv:UnspecifiedMatching MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch DOID:0090068 giant axonal neuropathy 1 semapv:UnspecifiedMatching MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch OMIM:256850 giant axonal neuropathy 1, autosomal recessive semapv:UnspecifiedMatching MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch Orphanet:643 Giant axonal neuropathy semapv:UnspecifiedMatching MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch UMLS:C1850386 semapv:UnspecifiedMatching MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive skos:exactMatch OMIM:256855 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive semapv:UnspecifiedMatching MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive skos:exactMatch UMLS:C1850385 semapv:UnspecifiedMatching MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive skos:exactMatch mesh:C564947 semapv:UnspecifiedMatching MONDO:0009751 neuropathy, hereditary sensory, atypical skos:exactMatch DOID:0070160 atypical hereditary sensory neuropathy semapv:UnspecifiedMatching MONDO:0009751 neuropathy, hereditary sensory, atypical skos:exactMatch OMIM:256860 neuropathy, hereditary sensory, atypical semapv:UnspecifiedMatching MONDO:0009751 neuropathy, hereditary sensory, atypical skos:exactMatch UMLS:C1850384 semapv:UnspecifiedMatching MONDO:0009751 neuropathy, hereditary sensory, atypical skos:exactMatch mesh:C564946 semapv:UnspecifiedMatching MONDO:0009752 neuropathy, painful skos:exactMatch OMIM:256870 neuropathy, painful semapv:UnspecifiedMatching MONDO:0009752 neuropathy, painful skos:exactMatch UMLS:C1850383 semapv:UnspecifiedMatching MONDO:0009752 neuropathy, painful skos:exactMatch mesh:C564945 semapv:UnspecifiedMatching MONDO:0009753 obsolete neurovisceral storage disease with Curvilinear bodies skos:exactMatch OMIM:257000 neurovisceral storage disease with curvilinear bodies semapv:UnspecifiedMatching MONDO:0009753 obsolete neurovisceral storage disease with Curvilinear bodies skos:exactMatch UMLS:C1850382 semapv:UnspecifiedMatching MONDO:0009753 obsolete neurovisceral storage disease with Curvilinear bodies skos:exactMatch mesh:C564944 semapv:UnspecifiedMatching MONDO:0009754 neutropenia, lethal congenital, with eosinophilia skos:exactMatch OMIM:257100 neutropenia, lethal congenital, with eosinophilia semapv:UnspecifiedMatching MONDO:0009754 neutropenia, lethal congenital, with eosinophilia skos:exactMatch UMLS:C1850381 semapv:UnspecifiedMatching MONDO:0009754 neutropenia, lethal congenital, with eosinophilia skos:exactMatch mesh:C564943 semapv:UnspecifiedMatching MONDO:0009755 neutrophil actin dysfunction skos:exactMatch NCIT:C3694 Dysplastic Nevus semapv:UnspecifiedMatching MONDO:0009755 neutrophil actin dysfunction skos:exactMatch OMIM:257150 neutrophil actin dysfunction semapv:UnspecifiedMatching MONDO:0009755 neutrophil actin dysfunction skos:exactMatch UMLS:C1850380 semapv:UnspecifiedMatching MONDO:0009755 neutrophil actin dysfunction skos:exactMatch mesh:C564942 semapv:UnspecifiedMatching MONDO:0009756 Niemann-Pick disease type A skos:exactMatch DOID:0070111 Niemann-Pick disease type A semapv:UnspecifiedMatching MONDO:0009756 Niemann-Pick disease type A skos:exactMatch NCIT:C126561 Niemann-Pick Disease, Type A semapv:UnspecifiedMatching MONDO:0009756 Niemann-Pick disease type A skos:exactMatch OMIM:257200 niemann-pick disease, iia a semapv:UnspecifiedMatching MONDO:0009756 Niemann-Pick disease type A skos:exactMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:UnspecifiedMatching MONDO:0009756 Niemann-Pick disease type A skos:exactMatch SCTID:52165006 semapv:UnspecifiedMatching MONDO:0009756 Niemann-Pick disease type A skos:exactMatch UMLS:C0268242 semapv:UnspecifiedMatching MONDO:0009756 Niemann-Pick disease type A skos:exactMatch mesh:D052536 semapv:UnspecifiedMatching MONDO:0009757 Niemann-Pick disease, type C1 skos:exactMatch DOID:0070113 Niemann-Pick disease type C1 semapv:UnspecifiedMatching MONDO:0009757 Niemann-Pick disease, type C1 skos:exactMatch NCIT:C126864 Niemann-Pick Disease, Type C1 semapv:UnspecifiedMatching MONDO:0009757 Niemann-Pick disease, type C1 skos:exactMatch OMIM:257220 niemann-pick disease, iia c1 semapv:UnspecifiedMatching MONDO:0009757 Niemann-Pick disease, type C1 skos:exactMatch SCTID:18927009 semapv:UnspecifiedMatching MONDO:0009757 Niemann-Pick disease, type C1 skos:exactMatch UMLS:C3179455 semapv:UnspecifiedMatching MONDO:0009758 congenital stationary night blindness 1B skos:exactMatch DOID:0110865 congenital stationary night blindness 1B semapv:UnspecifiedMatching MONDO:0009758 congenital stationary night blindness 1B skos:exactMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:UnspecifiedMatching MONDO:0009758 congenital stationary night blindness 1B skos:exactMatch UMLS:C1850362 semapv:UnspecifiedMatching MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch DOID:0080141 mosaic variegated aneuploidy syndrome 1 semapv:UnspecifiedMatching MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:UnspecifiedMatching MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch UMLS:C1850343 semapv:UnspecifiedMatching MONDO:0009760 Norman-Roberts syndrome skos:exactMatch DOID:0060902 Norman-Roberts syndrome semapv:UnspecifiedMatching MONDO:0009760 Norman-Roberts syndrome skos:exactMatch OMIM:257320 lissencephaly 2 semapv:UnspecifiedMatching MONDO:0009760 Norman-Roberts syndrome skos:exactMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:UnspecifiedMatching MONDO:0009760 Norman-Roberts syndrome skos:exactMatch SCTID:717977003 semapv:UnspecifiedMatching MONDO:0009760 Norman-Roberts syndrome skos:exactMatch UMLS:C0796089 semapv:UnspecifiedMatching MONDO:0009761 cystic hygroma skos:exactMatch DOID:3081 cystic lymphangioma semapv:UnspecifiedMatching MONDO:0009761 cystic hygroma skos:exactMatch NCIT:C3724 Cystic Hygroma semapv:UnspecifiedMatching MONDO:0009761 cystic hygroma skos:exactMatch OMIM:257350 nuchal bleb, familial semapv:UnspecifiedMatching MONDO:0009761 cystic hygroma skos:exactMatch SCTID:399882002 semapv:UnspecifiedMatching MONDO:0009761 cystic hygroma skos:exactMatch mesh:D018191 semapv:UnspecifiedMatching MONDO:0009762 nystagmus, congenital, autosomal recessive skos:exactMatch DOID:0111797 autosomal recessive congenital nystagmus semapv:UnspecifiedMatching MONDO:0009762 nystagmus, congenital, autosomal recessive skos:exactMatch OMIM:257400 nystagmus 8, congenital, autosomal recessive semapv:UnspecifiedMatching MONDO:0009762 nystagmus, congenital, autosomal recessive skos:exactMatch UMLS:C3151571 semapv:UnspecifiedMatching MONDO:0009762 nystagmus, congenital, autosomal recessive skos:exactMatch mesh:C564938 semapv:UnspecifiedMatching MONDO:0009763 obesity-hypoventilation syndrome skos:exactMatch OMIM:257500 obesity-hypoventilation syndrome semapv:UnspecifiedMatching MONDO:0009763 obesity-hypoventilation syndrome skos:exactMatch SCTID:190966007 semapv:UnspecifiedMatching MONDO:0009763 obesity-hypoventilation syndrome skos:exactMatch UMLS:C0031880 semapv:UnspecifiedMatching MONDO:0009763 obesity-hypoventilation syndrome skos:exactMatch mesh:D010845 semapv:UnspecifiedMatching MONDO:0009764 ocular motor apraxia, Cogan type skos:exactMatch DOID:0080849 ocular motor apraxia, Cogan type semapv:UnspecifiedMatching MONDO:0009764 ocular motor apraxia, Cogan type skos:exactMatch OMIM:257550 ocular motor apraxia semapv:UnspecifiedMatching MONDO:0009764 ocular motor apraxia, Cogan type skos:exactMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:UnspecifiedMatching MONDO:0009764 ocular motor apraxia, Cogan type skos:exactMatch SCTID:405809000 semapv:UnspecifiedMatching MONDO:0009764 ocular motor apraxia, Cogan type skos:exactMatch mesh:C537423 semapv:UnspecifiedMatching MONDO:0009765 ocular myopathy with curare sensitivity skos:exactMatch OMIM:257600 ocular myopathy with curare sensitivity semapv:UnspecifiedMatching MONDO:0009765 ocular myopathy with curare sensitivity skos:exactMatch UMLS:C1850341 semapv:UnspecifiedMatching MONDO:0009765 ocular myopathy with curare sensitivity skos:exactMatch mesh:C564937 semapv:UnspecifiedMatching MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:exactMatch OMIM:257790 oculocerebral hypopigmentation syndrome of preus semapv:UnspecifiedMatching MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:exactMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:UnspecifiedMatching MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:exactMatch SCTID:716174001 semapv:UnspecifiedMatching MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:exactMatch UMLS:C2931646 semapv:UnspecifiedMatching MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:exactMatch mesh:C537866 semapv:UnspecifiedMatching MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:exactMatch OMIM:257800 oculocerebral syndrome with hypopigmentation semapv:UnspecifiedMatching MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:exactMatch Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type semapv:UnspecifiedMatching MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:exactMatch SCTID:17827007 semapv:UnspecifiedMatching MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:exactMatch OMIM:257850 oculodentodigital dysplasia, autosomal recessive semapv:UnspecifiedMatching MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:exactMatch UMLS:C2749477 semapv:UnspecifiedMatching MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:exactMatch mesh:C567605 semapv:UnspecifiedMatching MONDO:0009769 oculo-palato-cerebral syndrome skos:exactMatch OMIM:257910 oculopalatocerebral syndrome semapv:UnspecifiedMatching MONDO:0009769 oculo-palato-cerebral syndrome skos:exactMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:UnspecifiedMatching MONDO:0009769 oculo-palato-cerebral syndrome skos:exactMatch SCTID:722055008 semapv:UnspecifiedMatching MONDO:0009769 oculo-palato-cerebral syndrome skos:exactMatch UMLS:C1850338 semapv:UnspecifiedMatching MONDO:0009769 oculo-palato-cerebral syndrome skos:exactMatch mesh:C564935 semapv:UnspecifiedMatching MONDO:0009770 3MC syndrome 1 skos:exactMatch DOID:0060575 3MC syndrome 1 semapv:UnspecifiedMatching MONDO:0009770 3MC syndrome 1 skos:exactMatch OMIM:257920 3mc syndrome 1 semapv:UnspecifiedMatching MONDO:0009770 3MC syndrome 1 skos:exactMatch UMLS:C0796059 semapv:UnspecifiedMatching MONDO:0009771 oculotrichodysplasia skos:exactMatch OMIM:257960 oculotrichodysplasia semapv:UnspecifiedMatching MONDO:0009771 oculotrichodysplasia skos:exactMatch Orphanet:2718 Oculotrichodysplasia semapv:UnspecifiedMatching MONDO:0009771 oculotrichodysplasia skos:exactMatch SCTID:722062004 semapv:UnspecifiedMatching MONDO:0009771 oculotrichodysplasia skos:exactMatch UMLS:C1850332 semapv:UnspecifiedMatching MONDO:0009771 oculotrichodysplasia skos:exactMatch mesh:C564934 semapv:UnspecifiedMatching MONDO:0009772 oculorenocerebellar syndrome skos:exactMatch OMIM:257970 oculorenocerebellar syndrome semapv:UnspecifiedMatching MONDO:0009772 oculorenocerebellar syndrome skos:exactMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:UnspecifiedMatching MONDO:0009772 oculorenocerebellar syndrome skos:exactMatch UMLS:C1850331 semapv:UnspecifiedMatching MONDO:0009772 oculorenocerebellar syndrome skos:exactMatch mesh:C537739 semapv:UnspecifiedMatching MONDO:0009773 odonto-onycho-dermal dysplasia skos:exactMatch OMIM:257980 odontoonychodermal dysplasia semapv:UnspecifiedMatching MONDO:0009773 odonto-onycho-dermal dysplasia skos:exactMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:UnspecifiedMatching MONDO:0009773 odonto-onycho-dermal dysplasia skos:exactMatch SCTID:403762003 semapv:UnspecifiedMatching MONDO:0009773 odonto-onycho-dermal dysplasia skos:exactMatch UMLS:C0796093 semapv:UnspecifiedMatching MONDO:0009773 odonto-onycho-dermal dysplasia skos:exactMatch mesh:C537742 semapv:UnspecifiedMatching MONDO:0009774 cloacal exstrophy skos:exactMatch DOID:0080175 cloacal exstrophy semapv:UnspecifiedMatching MONDO:0009774 cloacal exstrophy skos:exactMatch Orphanet:93929 Cloacal exstrophy semapv:UnspecifiedMatching MONDO:0009774 cloacal exstrophy skos:exactMatch SCTID:20815007 semapv:UnspecifiedMatching MONDO:0009774 cloacal exstrophy skos:exactMatch UMLS:C0345217 semapv:UnspecifiedMatching MONDO:0009774 cloacal exstrophy skos:exactMatch mesh:C537748 semapv:UnspecifiedMatching MONDO:0009775 Oguchi disease-1 skos:exactMatch DOID:0110712 Oguchi disease-1 semapv:UnspecifiedMatching MONDO:0009775 Oguchi disease-1 skos:exactMatch OMIM:258100 oguchi disease 1 semapv:UnspecifiedMatching MONDO:0009776 spermatogenic failure 1 skos:exactMatch DOID:0070188 spermatogenic failure 1 semapv:UnspecifiedMatching MONDO:0009776 spermatogenic failure 1 skos:exactMatch OMIM:258150 spermatogenic failure 1 semapv:UnspecifiedMatching MONDO:0009776 spermatogenic failure 1 skos:exactMatch SCTID:236803007 semapv:UnspecifiedMatching MONDO:0009776 spermatogenic failure 1 skos:exactMatch UMLS:C0403810 semapv:UnspecifiedMatching MONDO:0009776 spermatogenic failure 1 skos:exactMatch mesh:C562902 semapv:UnspecifiedMatching MONDO:0009777 Oliver syndrome skos:exactMatch OMIM:258200 Oliver syndrome semapv:UnspecifiedMatching MONDO:0009777 Oliver syndrome skos:exactMatch Orphanet:2920 Oliver syndrome semapv:UnspecifiedMatching MONDO:0009777 Oliver syndrome skos:exactMatch SCTID:721017000 semapv:UnspecifiedMatching MONDO:0009777 Oliver syndrome skos:exactMatch UMLS:C1850320 semapv:UnspecifiedMatching MONDO:0009777 Oliver syndrome skos:exactMatch mesh:C564931 semapv:UnspecifiedMatching MONDO:0009778 olivopontocerebellar atrophy II, autosomal recessive skos:exactMatch OMIM:258300 cerebellar ataxia and albinism semapv:UnspecifiedMatching MONDO:0009778 olivopontocerebellar atrophy II, autosomal recessive skos:exactMatch UMLS:C1850319 semapv:UnspecifiedMatching MONDO:0009778 olivopontocerebellar atrophy II, autosomal recessive skos:exactMatch mesh:C564930 semapv:UnspecifiedMatching MONDO:0009779 autosomal recessive omodysplasia skos:exactMatch DOID:0080844 omodysplasia 1 semapv:UnspecifiedMatching MONDO:0009779 autosomal recessive omodysplasia skos:exactMatch OMIM:258315 omodysplasia 1 semapv:UnspecifiedMatching MONDO:0009779 autosomal recessive omodysplasia skos:exactMatch Orphanet:93329 Autosomal recessive omodysplasia semapv:UnspecifiedMatching MONDO:0009779 autosomal recessive omodysplasia skos:exactMatch SCTID:725166005 semapv:UnspecifiedMatching MONDO:0009779 autosomal recessive omodysplasia skos:exactMatch UMLS:C1850318 semapv:UnspecifiedMatching MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:exactMatch OMIM:258320 omphalocele-cleft palate syndrome, lethal semapv:UnspecifiedMatching MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:exactMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:UnspecifiedMatching MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:exactMatch SCTID:719408007 semapv:UnspecifiedMatching MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:exactMatch UMLS:C1850317 semapv:UnspecifiedMatching MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:exactMatch mesh:C537747 semapv:UnspecifiedMatching MONDO:0009781 Onychotrichodysplasia and neutropenia skos:exactMatch OMIM:258360 onychotrichodysplasia and neutropenia semapv:UnspecifiedMatching MONDO:0009781 Onychotrichodysplasia and neutropenia skos:exactMatch UMLS:C1850316 semapv:UnspecifiedMatching MONDO:0009781 Onychotrichodysplasia and neutropenia skos:exactMatch mesh:C537752 semapv:UnspecifiedMatching MONDO:0009782 ophthalmoplegia totalis with ptosis and miosis skos:exactMatch OMIM:258400 ophthalmoplegia totalis with ptosis and miosis semapv:UnspecifiedMatching MONDO:0009782 ophthalmoplegia totalis with ptosis and miosis skos:exactMatch UMLS:C1850314 semapv:UnspecifiedMatching MONDO:0009782 ophthalmoplegia totalis with ptosis and miosis skos:exactMatch mesh:C564927 semapv:UnspecifiedMatching MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 semapv:UnspecifiedMatching MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch OMIM:258450 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 semapv:UnspecifiedMatching MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch UMLS:C4225153 semapv:UnspecifiedMatching MONDO:0009784 ophthalmoplegic neuromuscular disorder with abnormal mitochondria skos:exactMatch OMIM:258470 ophthalmoplegic neuromuscular disorder with abnormal mitochondria semapv:UnspecifiedMatching MONDO:0009784 ophthalmoplegic neuromuscular disorder with abnormal mitochondria skos:exactMatch UMLS:C1850302 semapv:UnspecifiedMatching MONDO:0009784 ophthalmoplegic neuromuscular disorder with abnormal mitochondria skos:exactMatch mesh:C564925 semapv:UnspecifiedMatching MONDO:0009785 opsismodysplasia skos:exactMatch OMIM:258480 opsismodysplasia semapv:UnspecifiedMatching MONDO:0009785 opsismodysplasia skos:exactMatch Orphanet:2746 Opsismodysplasia semapv:UnspecifiedMatching MONDO:0009785 opsismodysplasia skos:exactMatch SCTID:254068007 semapv:UnspecifiedMatching MONDO:0009785 opsismodysplasia skos:exactMatch UMLS:C0432219 semapv:UnspecifiedMatching MONDO:0009785 opsismodysplasia skos:exactMatch mesh:C537122 semapv:UnspecifiedMatching MONDO:0009786 optic atrophy 6 skos:exactMatch DOID:0111435 optic atrophy 6 semapv:UnspecifiedMatching MONDO:0009786 optic atrophy 6 skos:exactMatch OMIM:258500 optic atrophy 6 semapv:UnspecifiedMatching MONDO:0009786 optic atrophy 6 skos:exactMatch mesh:C537127 semapv:UnspecifiedMatching MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch DOID:0110004 3-methylglutaconic aciduria type 3 semapv:UnspecifiedMatching MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:UnspecifiedMatching MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:UnspecifiedMatching MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch SCTID:297232009 semapv:UnspecifiedMatching MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch UMLS:C0574084 semapv:UnspecifiedMatching MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch mesh:C535311 semapv:UnspecifiedMatching MONDO:0009788 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive skos:exactMatch OMIM:258650 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive semapv:UnspecifiedMatching MONDO:0009789 nonarteritic anterior ischemic optic neuropathy, susceptibility to skos:exactMatch OMIM:258660 nonarteritic anterior ischemic optic neuropathy, susceptibility to semapv:UnspecifiedMatching MONDO:0009790 Opticocochleodentate degeneration skos:exactMatch OMIM:258700 opticocochleodentate degeneration semapv:UnspecifiedMatching MONDO:0009790 Opticocochleodentate degeneration skos:exactMatch SCTID:77553008 semapv:UnspecifiedMatching MONDO:0009790 Opticocochleodentate degeneration skos:exactMatch UMLS:C0520711 semapv:UnspecifiedMatching MONDO:0009790 Opticocochleodentate degeneration skos:exactMatch mesh:C563002 semapv:UnspecifiedMatching MONDO:0009791 oral sensibility, disturbance of skos:exactMatch OMIM:258800 oral sensibility, disturbance of semapv:UnspecifiedMatching MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:exactMatch OMIM:258840 oral and digital anomalies with ichthyosis semapv:UnspecifiedMatching MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:exactMatch Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome semapv:UnspecifiedMatching MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:exactMatch UMLS:C1850268 semapv:UnspecifiedMatching MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:exactMatch mesh:C536272 semapv:UnspecifiedMatching MONDO:0009793 orofaciodigital syndrome III skos:exactMatch DOID:0060373 orofaciodigital syndrome III semapv:UnspecifiedMatching MONDO:0009793 orofaciodigital syndrome III skos:exactMatch OMIM:258850 orofaciodigital syndrome 3 semapv:UnspecifiedMatching MONDO:0009793 orofaciodigital syndrome III skos:exactMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:UnspecifiedMatching MONDO:0009793 orofaciodigital syndrome III skos:exactMatch SCTID:239030004 semapv:UnspecifiedMatching MONDO:0009793 orofaciodigital syndrome III skos:exactMatch mesh:C557817 semapv:UnspecifiedMatching MONDO:0009794 orofaciodigital syndrome IV skos:exactMatch DOID:0060374 orofaciodigital syndrome IV semapv:UnspecifiedMatching MONDO:0009794 orofaciodigital syndrome IV skos:exactMatch OMIM:258860 orofaciodigital syndrome 4 semapv:UnspecifiedMatching MONDO:0009794 orofaciodigital syndrome IV skos:exactMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:UnspecifiedMatching MONDO:0009794 orofaciodigital syndrome IV skos:exactMatch SCTID:239031000 semapv:UnspecifiedMatching MONDO:0009794 orofaciodigital syndrome IV skos:exactMatch UMLS:C0406727 semapv:UnspecifiedMatching MONDO:0009794 orofaciodigital syndrome IV skos:exactMatch mesh:C537133 semapv:UnspecifiedMatching MONDO:0009795 orofaciodigital syndrome IX skos:exactMatch DOID:0060382 orofaciodigital syndrome IX semapv:UnspecifiedMatching MONDO:0009795 orofaciodigital syndrome IX skos:exactMatch OMIM:258865 orofaciodigital syndrome 9 semapv:UnspecifiedMatching MONDO:0009795 orofaciodigital syndrome IX skos:exactMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:UnspecifiedMatching MONDO:0009795 orofaciodigital syndrome IX skos:exactMatch SCTID:718680001 semapv:UnspecifiedMatching MONDO:0009795 orofaciodigital syndrome IX skos:exactMatch UMLS:C0796102 semapv:UnspecifiedMatching MONDO:0009795 orofaciodigital syndrome IX skos:exactMatch mesh:C557818 semapv:UnspecifiedMatching MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch DOID:1415 gyrate atrophy semapv:UnspecifiedMatching MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch NCIT:C84744 Gyrate Atrophy semapv:UnspecifiedMatching MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:UnspecifiedMatching MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:UnspecifiedMatching MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch UMLS:C0018425 semapv:UnspecifiedMatching MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch mesh:D015799 semapv:UnspecifiedMatching MONDO:0009797 orotic aciduria skos:exactMatch DOID:0050833 orotic aciduria semapv:UnspecifiedMatching MONDO:0009797 orotic aciduria skos:exactMatch NCIT:C98944 Hereditary Orotic Aciduria semapv:UnspecifiedMatching MONDO:0009797 orotic aciduria skos:exactMatch OMIM:258900 orotic aciduria semapv:UnspecifiedMatching MONDO:0009797 orotic aciduria skos:exactMatch Orphanet:30 Hereditary orotic aciduria semapv:UnspecifiedMatching MONDO:0009797 orotic aciduria skos:exactMatch SCTID:47641009 semapv:UnspecifiedMatching MONDO:0009798 Primrose syndrome skos:exactMatch OMIM:259050 primrose syndrome semapv:UnspecifiedMatching MONDO:0009798 Primrose syndrome skos:exactMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:UnspecifiedMatching MONDO:0009798 Primrose syndrome skos:exactMatch SCTID:726709001 semapv:UnspecifiedMatching MONDO:0009798 Primrose syndrome skos:exactMatch UMLS:C0796121 semapv:UnspecifiedMatching MONDO:0009798 Primrose syndrome skos:exactMatch mesh:C536420 semapv:UnspecifiedMatching MONDO:0009800 Blount disease, adolescent skos:exactMatch OMIM:259200 blount disease, adolescent semapv:UnspecifiedMatching MONDO:0009800 Blount disease, adolescent skos:exactMatch UMLS:C3151572 semapv:UnspecifiedMatching MONDO:0009801 familial osteodysplasia, Anderson type skos:exactMatch OMIM:259250 osteodysplasia, familial, anderson iia semapv:UnspecifiedMatching MONDO:0009801 familial osteodysplasia, Anderson type skos:exactMatch Orphanet:2769 Familial osteodysplasia, Anderson type semapv:UnspecifiedMatching MONDO:0009801 familial osteodysplasia, Anderson type skos:exactMatch UMLS:C1850186 semapv:UnspecifiedMatching MONDO:0009801 familial osteodysplasia, Anderson type skos:exactMatch mesh:C564923 semapv:UnspecifiedMatching MONDO:0009802 osteodysplasty, precocious, of Danks, Mayne, and Kozlowski skos:exactMatch OMIM:259270 osteodysplasty, precocious, of danks, mayne, and kozlowski semapv:UnspecifiedMatching MONDO:0009802 osteodysplasty, precocious, of Danks, Mayne, and Kozlowski skos:exactMatch UMLS:C1850185 semapv:UnspecifiedMatching MONDO:0009802 osteodysplasty, precocious, of Danks, Mayne, and Kozlowski skos:exactMatch mesh:C564922 semapv:UnspecifiedMatching MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:exactMatch OMIM:259410 osteogenesis imperfecta congenita, microcephaly, and cataracts semapv:UnspecifiedMatching MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:exactMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:UnspecifiedMatching MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:exactMatch UMLS:C1850184 semapv:UnspecifiedMatching MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:exactMatch mesh:C537558 semapv:UnspecifiedMatching MONDO:0009804 osteogenesis imperfecta type 3 skos:exactMatch DOID:0110339 osteogenesis imperfecta type 3 semapv:UnspecifiedMatching MONDO:0009804 osteogenesis imperfecta type 3 skos:exactMatch NCIT:C99002 Osteogenesis Imperfecta Type III semapv:UnspecifiedMatching MONDO:0009804 osteogenesis imperfecta type 3 skos:exactMatch OMIM:259420 osteogenesis imperfecta, iia 3 semapv:UnspecifiedMatching MONDO:0009804 osteogenesis imperfecta type 3 skos:exactMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:UnspecifiedMatching MONDO:0009804 osteogenesis imperfecta type 3 skos:exactMatch SCTID:385483009 semapv:UnspecifiedMatching MONDO:0009804 osteogenesis imperfecta type 3 skos:exactMatch UMLS:C0268362 semapv:UnspecifiedMatching MONDO:0009804 osteogenesis imperfecta type 3 skos:exactMatch mesh:C536044 semapv:UnspecifiedMatching MONDO:0009805 osteogenesis imperfecta type 9 skos:exactMatch DOID:0110349 osteogenesis imperfecta type 9 semapv:UnspecifiedMatching MONDO:0009805 osteogenesis imperfecta type 9 skos:exactMatch OMIM:259440 osteogenesis imperfecta, iia 9 semapv:UnspecifiedMatching MONDO:0009805 osteogenesis imperfecta type 9 skos:exactMatch mesh:C564921 semapv:UnspecifiedMatching MONDO:0009806 Bruck syndrome 1 skos:exactMatch OMIM:259450 bruck syndrome 1 semapv:UnspecifiedMatching MONDO:0009806 Bruck syndrome 1 skos:exactMatch UMLS:C1850168 semapv:UnspecifiedMatching MONDO:0009807 osteosarcoma skos:exactMatch DOID:3347 osteosarcoma semapv:UnspecifiedMatching MONDO:0009807 osteosarcoma skos:exactMatch NCIT:C9145 Osteosarcoma semapv:UnspecifiedMatching MONDO:0009807 osteosarcoma skos:exactMatch mesh:D012516 semapv:UnspecifiedMatching MONDO:0009808 osteoid osteoma skos:exactMatch NCIT:C3297 Osteoid Osteoma semapv:UnspecifiedMatching MONDO:0009808 osteoid osteoma skos:exactMatch OMIM:259550 osteoid osteoma semapv:UnspecifiedMatching MONDO:0009808 osteoid osteoma skos:exactMatch SCTID:302859004 semapv:UnspecifiedMatching MONDO:0009808 osteoid osteoma skos:exactMatch UMLS:C0029441 semapv:UnspecifiedMatching MONDO:0009808 osteoid osteoma skos:exactMatch mesh:D010017 semapv:UnspecifiedMatching MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:exactMatch NCIT:C123437 Multicentric Osteolysis, Nodulosis, and Arthropathy semapv:UnspecifiedMatching MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:exactMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:UnspecifiedMatching MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:exactMatch OMIM:259610 osteolysis syndrome, recessive semapv:UnspecifiedMatching MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:exactMatch Orphanet:2776 Autosomal recessive distal osteolysis syndrome semapv:UnspecifiedMatching MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:exactMatch SCTID:715487005 semapv:UnspecifiedMatching MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:exactMatch UMLS:C1850143 semapv:UnspecifiedMatching MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:exactMatch mesh:C536052 semapv:UnspecifiedMatching MONDO:0009811 osteoma of middle ear skos:exactMatch OMIM:259650 osteoma of middle ear semapv:UnspecifiedMatching MONDO:0009811 osteoma of middle ear skos:exactMatch UMLS:C1850142 semapv:UnspecifiedMatching MONDO:0009811 osteoma of middle ear skos:exactMatch mesh:C564917 semapv:UnspecifiedMatching MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch DOID:0060645 chronic recurrent multifocal osteomyelitis semapv:UnspecifiedMatching MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch NCIT:C119042 Chronic Recurrent Multifocal Osteomyelitis semapv:UnspecifiedMatching MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch OMIMPS:609628 semapv:UnspecifiedMatching MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:UnspecifiedMatching MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch SCTID:240151005 semapv:UnspecifiedMatching MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch UMLS:C0410422 semapv:UnspecifiedMatching MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch mesh:C535456 semapv:UnspecifiedMatching MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:exactMatch OMIM:259690 osteopenia and sparse hair semapv:UnspecifiedMatching MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:exactMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:UnspecifiedMatching MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:exactMatch SCTID:732954002 semapv:UnspecifiedMatching MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:exactMatch UMLS:C1850140 semapv:UnspecifiedMatching MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:exactMatch mesh:C537706 semapv:UnspecifiedMatching MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch DOID:0110942 autosomal recessive osteopetrosis 1 semapv:UnspecifiedMatching MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch NCIT:C167215 Autosomal Recessive Osteopetrosis 1 semapv:UnspecifiedMatching MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:UnspecifiedMatching MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch mesh:C564915 semapv:UnspecifiedMatching MONDO:0009816 autosomal recessive osteopetrosis 2 skos:exactMatch DOID:0110943 autosomal recessive osteopetrosis 2 semapv:UnspecifiedMatching MONDO:0009816 autosomal recessive osteopetrosis 2 skos:exactMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0009816 autosomal recessive osteopetrosis 2 skos:exactMatch mesh:C536059 semapv:UnspecifiedMatching MONDO:0009817 autosomal recessive osteopetrosis 5 skos:exactMatch DOID:0110939 autosomal recessive osteopetrosis 5 semapv:UnspecifiedMatching MONDO:0009817 autosomal recessive osteopetrosis 5 skos:exactMatch OMIM:259720 osteopetrosis, autosomal recessive 5 semapv:UnspecifiedMatching MONDO:0009817 autosomal recessive osteopetrosis 5 skos:exactMatch mesh:C566883 semapv:UnspecifiedMatching MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch DOID:0110941 autosomal recessive osteopetrosis 3 semapv:UnspecifiedMatching MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch NCIT:C118438 Osteopetrosis with Renal Tubular Acidosis semapv:UnspecifiedMatching MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch OMIM:259730 osteopetrosis, autosomal recessive 3 semapv:UnspecifiedMatching MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:UnspecifiedMatching MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch SCTID:254122007 semapv:UnspecifiedMatching MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch mesh:C536058 semapv:UnspecifiedMatching MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:exactMatch DOID:0060849 osteoporosis-pseudoglioma syndrome semapv:UnspecifiedMatching MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:exactMatch NCIT:C130998 Osteoporosis Pseudoglioma Syndrome semapv:UnspecifiedMatching MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:exactMatch OMIM:259770 osteoporosis-pseudoglioma syndrome semapv:UnspecifiedMatching MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:exactMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:UnspecifiedMatching MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:exactMatch UMLS:C0432252 semapv:UnspecifiedMatching MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:exactMatch mesh:C536063 semapv:UnspecifiedMatching MONDO:0009821 lethal osteosclerotic bone dysplasia skos:exactMatch OMIM:259775 raine syndrome semapv:UnspecifiedMatching MONDO:0009821 lethal osteosclerotic bone dysplasia skos:exactMatch Orphanet:1832 Lethal osteosclerotic bone dysplasia semapv:UnspecifiedMatching MONDO:0009821 lethal osteosclerotic bone dysplasia skos:exactMatch UMLS:C1850106 semapv:UnspecifiedMatching MONDO:0009821 lethal osteosclerotic bone dysplasia skos:exactMatch mesh:C535282 semapv:UnspecifiedMatching MONDO:0009821 lethal osteosclerotic bone dysplasia skos:exactMatch mesh:C564916 semapv:UnspecifiedMatching MONDO:0009822 otoonychoperoneal syndrome skos:exactMatch OMIM:259780 otoonychoperoneal syndrome semapv:UnspecifiedMatching MONDO:0009822 otoonychoperoneal syndrome skos:exactMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:UnspecifiedMatching MONDO:0009822 otoonychoperoneal syndrome skos:exactMatch SCTID:441944007 semapv:UnspecifiedMatching MONDO:0009822 otoonychoperoneal syndrome skos:exactMatch UMLS:C1850105 semapv:UnspecifiedMatching MONDO:0009822 otoonychoperoneal syndrome skos:exactMatch mesh:C564912 semapv:UnspecifiedMatching MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch DOID:0111670 primary hyperoxaluria type 1 semapv:UnspecifiedMatching MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch NCIT:C123212 Primary Hyperoxaluria Type I semapv:UnspecifiedMatching MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:UnspecifiedMatching MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:UnspecifiedMatching MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch SCTID:65520001 semapv:UnspecifiedMatching MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch UMLS:C0268164 semapv:UnspecifiedMatching MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch mesh:C536414 semapv:UnspecifiedMatching MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch DOID:0111671 primary hyperoxaluria type 2 semapv:UnspecifiedMatching MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch NCIT:C123213 Primary Hyperoxaluria Type II semapv:UnspecifiedMatching MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch OMIM:260000 hyperoxaluria, primary, iia 2 semapv:UnspecifiedMatching MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:UnspecifiedMatching MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch SCTID:40951006 semapv:UnspecifiedMatching MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch UMLS:C0268165 semapv:UnspecifiedMatching MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch mesh:C536415 semapv:UnspecifiedMatching MONDO:0009825 5-oxoprolinase deficiency skos:exactMatch OMIM:260005 5-oxoprolinase deficiency semapv:UnspecifiedMatching MONDO:0009825 5-oxoprolinase deficiency skos:exactMatch Orphanet:33572 5-oxoprolinase deficiency semapv:UnspecifiedMatching MONDO:0009825 5-oxoprolinase deficiency skos:exactMatch SCTID:26132002 semapv:UnspecifiedMatching MONDO:0009825 5-oxoprolinase deficiency skos:exactMatch UMLS:C0268525 semapv:UnspecifiedMatching MONDO:0009825 5-oxoprolinase deficiency skos:exactMatch mesh:C535322 semapv:UnspecifiedMatching MONDO:0009826 PA polymorphism of alpha-2-globulin skos:exactMatch OMIM:260100 pa polymorphism of alpha-2-globulin semapv:UnspecifiedMatching MONDO:0009827 obsolete pachyonychia congenita, autosomal recessive skos:exactMatch OMIM:260130 pachyonychia congenita, autosomal recessive semapv:UnspecifiedMatching MONDO:0009827 obsolete pachyonychia congenita, autosomal recessive skos:exactMatch UMLS:C1850103 semapv:UnspecifiedMatching MONDO:0009827 obsolete pachyonychia congenita, autosomal recessive skos:exactMatch mesh:C538094 semapv:UnspecifiedMatching MONDO:0009828 palant cleft palate syndrome skos:exactMatch OMIM:260150 palant cleft palate syndrome semapv:UnspecifiedMatching MONDO:0009828 palant cleft palate syndrome skos:exactMatch UMLS:C1850102 semapv:UnspecifiedMatching MONDO:0009828 palant cleft palate syndrome skos:exactMatch mesh:C538102 semapv:UnspecifiedMatching MONDO:0009829 obsolete pallidal degeneration, progressive, with retinitis pigmentosa skos:exactMatch OMIM:260200 pallidal degeneration, progressive, with retinitis pigmentosa semapv:UnspecifiedMatching MONDO:0009829 obsolete pallidal degeneration, progressive, with retinitis pigmentosa skos:exactMatch UMLS:C1850101 semapv:UnspecifiedMatching MONDO:0009829 obsolete pallidal degeneration, progressive, with retinitis pigmentosa skos:exactMatch mesh:C564910 semapv:UnspecifiedMatching MONDO:0009830 parkinsonian-pyramidal syndrome skos:exactMatch DOID:0060372 Parkinson's disease 15 semapv:UnspecifiedMatching MONDO:0009830 parkinsonian-pyramidal syndrome skos:exactMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:UnspecifiedMatching MONDO:0009830 parkinsonian-pyramidal syndrome skos:exactMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:UnspecifiedMatching MONDO:0009830 parkinsonian-pyramidal syndrome skos:exactMatch UMLS:C1850100 semapv:UnspecifiedMatching MONDO:0009830 parkinsonian-pyramidal syndrome skos:exactMatch mesh:C538104 semapv:UnspecifiedMatching MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch DOID:1793 pancreatic cancer semapv:UnspecifiedMatching MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch NCIT:C9005 Malignant Pancreatic Neoplasm semapv:UnspecifiedMatching MONDO:0009832 pancreatic agenesis skos:exactMatch DOID:0050877 pancreatic agenesis semapv:UnspecifiedMatching MONDO:0009832 pancreatic agenesis skos:exactMatch OMIMPS:260370 semapv:UnspecifiedMatching MONDO:0009832 pancreatic agenesis skos:exactMatch Orphanet:2805 Partial pancreatic agenesis semapv:UnspecifiedMatching MONDO:0009832 pancreatic agenesis skos:exactMatch SCTID:719044008 semapv:UnspecifiedMatching MONDO:0009832 pancreatic agenesis skos:exactMatch UMLS:C5195568 semapv:UnspecifiedMatching MONDO:0009832 pancreatic agenesis skos:exactMatch mesh:C564908 semapv:UnspecifiedMatching MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch DOID:0060479 Shwachman-Diamond syndrome semapv:UnspecifiedMatching MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch NCIT:C61235 Shwachman-Diamond Syndrome semapv:UnspecifiedMatching MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch OMIMPS:260400 semapv:UnspecifiedMatching MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch Orphanet:811 Shwachman-Diamond syndrome semapv:UnspecifiedMatching MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch SCTID:89454001 semapv:UnspecifiedMatching MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch mesh:C537330 semapv:UnspecifiedMatching MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch DOID:8970 subacute sclerosing panencephalitis semapv:UnspecifiedMatching MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch ICD10CM:A81.1 Subacute sclerosing panencephalitis semapv:UnspecifiedMatching MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch NCIT:C85171 Subacute Sclerosing Panencephalitis semapv:UnspecifiedMatching MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch OMIM:260470 subacute sclerosing panencephalitis semapv:UnspecifiedMatching MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:UnspecifiedMatching MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch UMLS:C0038522 semapv:UnspecifiedMatching MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch mesh:D013344 semapv:UnspecifiedMatching MONDO:0009836 pancreatitis, sclerosing cholangitis, and sicca complex skos:exactMatch OMIM:260480 pancreatitis, sclerosing cholangitis, and sicca complex semapv:UnspecifiedMatching MONDO:0009836 pancreatitis, sclerosing cholangitis, and sicca complex skos:exactMatch UMLS:C1850080 semapv:UnspecifiedMatching MONDO:0009836 pancreatitis, sclerosing cholangitis, and sicca complex skos:exactMatch mesh:C564906 semapv:UnspecifiedMatching MONDO:0009837 choroid plexus papilloma skos:exactMatch DOID:2626 choroid plexus papilloma semapv:UnspecifiedMatching MONDO:0009837 choroid plexus papilloma skos:exactMatch NCIT:C3698 Choroid Plexus Papilloma semapv:UnspecifiedMatching MONDO:0009837 choroid plexus papilloma skos:exactMatch OMIM:260500 papilloma of choroid plexus semapv:UnspecifiedMatching MONDO:0009837 choroid plexus papilloma skos:exactMatch Orphanet:2807 Papilloma of choroid plexus semapv:UnspecifiedMatching MONDO:0009837 choroid plexus papilloma skos:exactMatch SCTID:425868004 semapv:UnspecifiedMatching MONDO:0009837 choroid plexus papilloma skos:exactMatch UMLS:C0205770 semapv:UnspecifiedMatching MONDO:0009837 choroid plexus papilloma skos:exactMatch mesh:D020288 semapv:UnspecifiedMatching MONDO:0009838 Parana hard-skin syndrome skos:exactMatch NCIT:C126559 Hard Skin Syndrome Parana Type semapv:UnspecifiedMatching MONDO:0009838 Parana hard-skin syndrome skos:exactMatch OMIM:260530 parana hard-skin syndrome semapv:UnspecifiedMatching MONDO:0009838 Parana hard-skin syndrome skos:exactMatch Orphanet:2812 Parana hard skin syndrome semapv:UnspecifiedMatching MONDO:0009838 Parana hard-skin syndrome skos:exactMatch UMLS:C1850079 semapv:UnspecifiedMatching MONDO:0009838 Parana hard-skin syndrome skos:exactMatch mesh:C564905 semapv:UnspecifiedMatching MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:exactMatch OMIM:260540 parkinson-dementia syndrome semapv:UnspecifiedMatching MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:exactMatch Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome semapv:UnspecifiedMatching MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:exactMatch UMLS:C1850077 semapv:UnspecifiedMatching MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:exactMatch mesh:C537240 semapv:UnspecifiedMatching MONDO:0009840 Partington-Anderson syndrome skos:exactMatch OMIM:260555 partington-anderson syndrome semapv:UnspecifiedMatching MONDO:0009840 Partington-Anderson syndrome skos:exactMatch UMLS:C1850075 semapv:UnspecifiedMatching MONDO:0009840 Partington-Anderson syndrome skos:exactMatch mesh:C536299 semapv:UnspecifiedMatching MONDO:0009841 PEHO syndrome skos:exactMatch DOID:0080539 PEHO syndrome semapv:UnspecifiedMatching MONDO:0009841 PEHO syndrome skos:exactMatch OMIM:260565 peho syndrome semapv:UnspecifiedMatching MONDO:0009841 PEHO syndrome skos:exactMatch Orphanet:2836 PEHO syndrome semapv:UnspecifiedMatching MONDO:0009841 PEHO syndrome skos:exactMatch UMLS:C1850055 semapv:UnspecifiedMatching MONDO:0009841 PEHO syndrome skos:exactMatch mesh:C536317 semapv:UnspecifiedMatching MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain skos:exactMatch OMIM:260570 immunodeficiency 108 with autoinflammation semapv:UnspecifiedMatching MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain skos:exactMatch UMLS:C1850054 semapv:UnspecifiedMatching MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain skos:exactMatch mesh:C564899 semapv:UnspecifiedMatching MONDO:0009843 hypomyelinating leukodystrophy 3 skos:exactMatch DOID:0060790 hypomyelinating leukodystrophy 3 semapv:UnspecifiedMatching MONDO:0009843 hypomyelinating leukodystrophy 3 skos:exactMatch OMIM:260600 leukodystrophy, hypomyelinating, 3 semapv:UnspecifiedMatching MONDO:0009843 hypomyelinating leukodystrophy 3 skos:exactMatch Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation semapv:UnspecifiedMatching MONDO:0009843 hypomyelinating leukodystrophy 3 skos:exactMatch UMLS:C1850053 semapv:UnspecifiedMatching MONDO:0009843 hypomyelinating leukodystrophy 3 skos:exactMatch mesh:C536319 semapv:UnspecifiedMatching MONDO:0009844 pellagra-like syndrome skos:exactMatch OMIM:260650 pellagra-like syndrome semapv:UnspecifiedMatching MONDO:0009844 pellagra-like syndrome skos:exactMatch UMLS:C1850052 semapv:UnspecifiedMatching MONDO:0009844 pellagra-like syndrome skos:exactMatch mesh:C538352 semapv:UnspecifiedMatching MONDO:0009845 pelviscapular dysplasia skos:exactMatch OMIM:260660 cousin syndrome semapv:UnspecifiedMatching MONDO:0009845 pelviscapular dysplasia skos:exactMatch Orphanet:93333 Pelviscapular dysplasia semapv:UnspecifiedMatching MONDO:0009845 pelviscapular dysplasia skos:exactMatch SCTID:719299009 semapv:UnspecifiedMatching MONDO:0009845 pelviscapular dysplasia skos:exactMatch UMLS:C1850040 semapv:UnspecifiedMatching MONDO:0009845 pelviscapular dysplasia skos:exactMatch mesh:C535550 semapv:UnspecifiedMatching MONDO:0009846 pentosuria skos:exactMatch DOID:0111258 pentosuria semapv:UnspecifiedMatching MONDO:0009846 pentosuria skos:exactMatch OMIM:260800 pentosuria semapv:UnspecifiedMatching MONDO:0009846 pentosuria skos:exactMatch Orphanet:2843 Pentosuria semapv:UnspecifiedMatching MONDO:0009846 pentosuria skos:exactMatch SCTID:190764000 semapv:UnspecifiedMatching MONDO:0009846 pentosuria skos:exactMatch UMLS:C0268162 semapv:UnspecifiedMatching MONDO:0009846 pentosuria skos:exactMatch mesh:C536652 semapv:UnspecifiedMatching MONDO:0009847 pericardial effusion, chronic skos:exactMatch OMIM:260900 pericardial effusion, chronic semapv:UnspecifiedMatching MONDO:0009847 pericardial effusion, chronic skos:exactMatch UMLS:C1850039 semapv:UnspecifiedMatching MONDO:0009847 pericardial effusion, chronic skos:exactMatch mesh:C564895 semapv:UnspecifiedMatching MONDO:0009848 dissecting cellulitis of the scalp skos:exactMatch OMIM:260910 perifolliculitis capitis abscedens et suffodiens, familial semapv:UnspecifiedMatching MONDO:0009848 dissecting cellulitis of the scalp skos:exactMatch Orphanet:345 Dissecting cellulitis of the scalp semapv:UnspecifiedMatching MONDO:0009848 dissecting cellulitis of the scalp skos:exactMatch SCTID:77333008 semapv:UnspecifiedMatching MONDO:0009848 dissecting cellulitis of the scalp skos:exactMatch UMLS:C0263506 semapv:UnspecifiedMatching MONDO:0009848 dissecting cellulitis of the scalp skos:exactMatch mesh:C562486 semapv:UnspecifiedMatching MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:exactMatch OMIM:260920 hyper-igd syndrome semapv:UnspecifiedMatching MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:exactMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:UnspecifiedMatching MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:exactMatch UMLS:C0398691 semapv:UnspecifiedMatching MONDO:0009850 periodontitis, chronic, adult skos:exactMatch OMIM:260950 periodontitis, chronic semapv:UnspecifiedMatching MONDO:0009850 periodontitis, chronic, adult skos:exactMatch SCTID:74797001 semapv:UnspecifiedMatching MONDO:0009850 periodontitis, chronic, adult skos:exactMatch UMLS:C0266929 semapv:UnspecifiedMatching MONDO:0009851 peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain skos:exactMatch OMIM:260970 peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain semapv:UnspecifiedMatching MONDO:0009851 peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain skos:exactMatch UMLS:C1850022 semapv:UnspecifiedMatching MONDO:0009851 peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain skos:exactMatch mesh:C564894 semapv:UnspecifiedMatching MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch DOID:0050734 congenital intrinsic factor deficiency semapv:UnspecifiedMatching MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch OMIM:261000 intrinsic factor deficiency semapv:UnspecifiedMatching MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:UnspecifiedMatching MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch SCTID:60504009 semapv:UnspecifiedMatching MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch UMLS:C1394891 semapv:UnspecifiedMatching MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch mesh:C563242 semapv:UnspecifiedMatching MONDO:0009853 Imerslund-Grasbeck syndrome skos:exactMatch OMIMPS:261100 semapv:UnspecifiedMatching MONDO:0009853 Imerslund-Grasbeck syndrome skos:exactMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:UnspecifiedMatching MONDO:0009853 Imerslund-Grasbeck syndrome skos:exactMatch SCTID:360495000 semapv:UnspecifiedMatching MONDO:0009853 Imerslund-Grasbeck syndrome skos:exactMatch mesh:C538556 semapv:UnspecifiedMatching MONDO:0009854 peroneus tertius muscle, absence of skos:exactMatch OMIM:261400 peroneus tertius muscle, absence of semapv:UnspecifiedMatching MONDO:0009855 d-bifunctional protein deficiency skos:exactMatch DOID:0090031 D-bifunctional protein deficiency semapv:UnspecifiedMatching MONDO:0009855 d-bifunctional protein deficiency skos:exactMatch NCIT:C119676 D-Bifunctional Protein Deficiency semapv:UnspecifiedMatching MONDO:0009855 d-bifunctional protein deficiency skos:exactMatch OMIM:261515 d-bifunctional protein deficiency semapv:UnspecifiedMatching MONDO:0009855 d-bifunctional protein deficiency skos:exactMatch Orphanet:300 Bifunctional enzyme deficiency semapv:UnspecifiedMatching MONDO:0009855 d-bifunctional protein deficiency skos:exactMatch SCTID:238068007 semapv:UnspecifiedMatching MONDO:0009855 d-bifunctional protein deficiency skos:exactMatch UMLS:C0342870 semapv:UnspecifiedMatching MONDO:0009856 Peters plus syndrome skos:exactMatch DOID:0080201 Peters plus syndrome semapv:UnspecifiedMatching MONDO:0009856 Peters plus syndrome skos:exactMatch NCIT:C123436 Peters-Plus Syndrome semapv:UnspecifiedMatching MONDO:0009856 Peters plus syndrome skos:exactMatch OMIM:261540 peters-plus syndrome semapv:UnspecifiedMatching MONDO:0009856 Peters plus syndrome skos:exactMatch Orphanet:709 Peters plus syndrome semapv:UnspecifiedMatching MONDO:0009856 Peters plus syndrome skos:exactMatch SCTID:449817000 semapv:UnspecifiedMatching MONDO:0009856 Peters plus syndrome skos:exactMatch UMLS:C0796012 semapv:UnspecifiedMatching MONDO:0009856 Peters plus syndrome skos:exactMatch mesh:C537617 semapv:UnspecifiedMatching MONDO:0009857 persistent Mullerian duct syndrome skos:exactMatch DOID:0050791 persistent Mullerian duct syndrome semapv:UnspecifiedMatching MONDO:0009857 persistent Mullerian duct syndrome skos:exactMatch NCIT:C120188 Persistent Mullerian Duct Syndrome semapv:UnspecifiedMatching MONDO:0009857 persistent Mullerian duct syndrome skos:exactMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:UnspecifiedMatching MONDO:0009857 persistent Mullerian duct syndrome skos:exactMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:UnspecifiedMatching MONDO:0009857 persistent Mullerian duct syndrome skos:exactMatch SCTID:702358005 semapv:UnspecifiedMatching MONDO:0009857 persistent Mullerian duct syndrome skos:exactMatch UMLS:C1849930 semapv:UnspecifiedMatching MONDO:0009857 persistent Mullerian duct syndrome skos:exactMatch mesh:C536665 semapv:UnspecifiedMatching MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:exactMatch OMIM:261560 pfeiffer-palm-teller syndrome semapv:UnspecifiedMatching MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:exactMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:UnspecifiedMatching MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:exactMatch SCTID:726672000 semapv:UnspecifiedMatching MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:exactMatch UMLS:C1849929 semapv:UnspecifiedMatching MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:exactMatch mesh:C537889 semapv:UnspecifiedMatching MONDO:0009859 PHAVER syndrome skos:exactMatch OMIM:261575 phaver syndrome semapv:UnspecifiedMatching MONDO:0009859 PHAVER syndrome skos:exactMatch Orphanet:2876 PHAVER syndrome semapv:UnspecifiedMatching MONDO:0009859 PHAVER syndrome skos:exactMatch SCTID:723453002 semapv:UnspecifiedMatching MONDO:0009859 PHAVER syndrome skos:exactMatch UMLS:C1849928 semapv:UnspecifiedMatching MONDO:0009859 PHAVER syndrome skos:exactMatch mesh:C538357 semapv:UnspecifiedMatching MONDO:0009860 phenformin 4-hydroxylation skos:exactMatch OMIM:261590 phenformin 4-hydroxylation semapv:UnspecifiedMatching MONDO:0009861 phenylketonuria skos:exactMatch DOID:9281 phenylketonuria semapv:UnspecifiedMatching MONDO:0009861 phenylketonuria skos:exactMatch NCIT:C81315 Phenylketonuria semapv:UnspecifiedMatching MONDO:0009861 phenylketonuria skos:exactMatch OMIM:261600 phenylketonuria semapv:UnspecifiedMatching MONDO:0009861 phenylketonuria skos:exactMatch Orphanet:716 Phenylketonuria semapv:UnspecifiedMatching MONDO:0009861 phenylketonuria skos:exactMatch SCTID:7573000 semapv:UnspecifiedMatching MONDO:0009861 phenylketonuria skos:exactMatch UMLS:C0031485 semapv:UnspecifiedMatching MONDO:0009861 phenylketonuria skos:exactMatch mesh:D010661 semapv:UnspecifiedMatching MONDO:0009862 dihydropteridine reductase deficiency skos:exactMatch DOID:0081130 BH4-deficient hyperphenylalaninemia C semapv:UnspecifiedMatching MONDO:0009862 dihydropteridine reductase deficiency skos:exactMatch NCIT:C138173 Hyperphenylalaninemia, BH4-deficient C semapv:UnspecifiedMatching MONDO:0009862 dihydropteridine reductase deficiency skos:exactMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:UnspecifiedMatching MONDO:0009862 dihydropteridine reductase deficiency skos:exactMatch Orphanet:226 Dihydropteridine reductase deficiency semapv:UnspecifiedMatching MONDO:0009862 dihydropteridine reductase deficiency skos:exactMatch SCTID:58256000 semapv:UnspecifiedMatching MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch DOID:0090106 BH4-deficient hyperphenylalaninemia A semapv:UnspecifiedMatching MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch NCIT:C138171 Hyperphenylalaninemia, BH4-deficient A semapv:UnspecifiedMatching MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:UnspecifiedMatching MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:UnspecifiedMatching MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch SCTID:237914002 semapv:UnspecifiedMatching MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch UMLS:C0878676 semapv:UnspecifiedMatching MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch mesh:C535325 semapv:UnspecifiedMatching MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:exactMatch OMIM:261650 phosphoenolpyruvate carboxykinase deficiency, mitochondrial semapv:UnspecifiedMatching MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:exactMatch UMLS:C1849821 semapv:UnspecifiedMatching MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:exactMatch mesh:C564890 semapv:UnspecifiedMatching MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch NCIT:C131647 Phosphoglycerate Mutase Deficiency semapv:UnspecifiedMatching MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch OMIM:261670 glycogen storage disease 10 semapv:UnspecifiedMatching MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:UnspecifiedMatching MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch SCTID:61772003 semapv:UnspecifiedMatching MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch mesh:C536176 semapv:UnspecifiedMatching MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:exactMatch OMIM:261680 phosphoenolpyruvate carboxykinase deficiency, cytosolic semapv:UnspecifiedMatching MONDO:0009867 lethal congenital glycogen storage disease of heart skos:exactMatch DOID:0090101 lethal congenital glycogen storage disease of heart semapv:UnspecifiedMatching MONDO:0009867 lethal congenital glycogen storage disease of heart skos:exactMatch OMIM:261740 glycogen storage disease of heart, lethal congenital semapv:UnspecifiedMatching MONDO:0009867 lethal congenital glycogen storage disease of heart skos:exactMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:UnspecifiedMatching MONDO:0009867 lethal congenital glycogen storage disease of heart skos:exactMatch UMLS:C1849813 semapv:UnspecifiedMatching MONDO:0009867 lethal congenital glycogen storage disease of heart skos:exactMatch mesh:C564888 semapv:UnspecifiedMatching MONDO:0009868 glycogen storage disease IXb skos:exactMatch DOID:0111041 glycogen storage disease IXb semapv:UnspecifiedMatching MONDO:0009868 glycogen storage disease IXb skos:exactMatch OMIM:261750 glycogen storage disease ixb semapv:UnspecifiedMatching MONDO:0009868 glycogen storage disease IXb skos:exactMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:UnspecifiedMatching MONDO:0009868 glycogen storage disease IXb skos:exactMatch UMLS:C0543514 semapv:UnspecifiedMatching MONDO:0009868 glycogen storage disease IXb skos:exactMatch mesh:C563008 semapv:UnspecifiedMatching MONDO:0009869 isolated Pierre-Robin syndrome skos:exactMatch NCIT:C85010 Pierre Robin Syndrome semapv:UnspecifiedMatching MONDO:0009869 isolated Pierre-Robin syndrome skos:exactMatch OMIM:261800 pierre robin syndrome semapv:UnspecifiedMatching MONDO:0009869 isolated Pierre-Robin syndrome skos:exactMatch Orphanet:718 Isolated Pierre Robin syndrome semapv:UnspecifiedMatching MONDO:0009869 isolated Pierre-Robin syndrome skos:exactMatch SCTID:4602007 semapv:UnspecifiedMatching MONDO:0009869 isolated Pierre-Robin syndrome skos:exactMatch mesh:D010855 semapv:UnspecifiedMatching MONDO:0009870 pili torti skos:exactMatch OMIM:261900 pili torti, early-onset semapv:UnspecifiedMatching MONDO:0009870 pili torti skos:exactMatch Orphanet:2889 Pili torti semapv:UnspecifiedMatching MONDO:0009870 pili torti skos:exactMatch SCTID:17170005 semapv:UnspecifiedMatching MONDO:0009870 pili torti skos:exactMatch mesh:C562485 semapv:UnspecifiedMatching MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:exactMatch OMIM:261990 abnormal hair, joint laxity, and developmental delay semapv:UnspecifiedMatching MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:exactMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:UnspecifiedMatching MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:exactMatch UMLS:C1849811 semapv:UnspecifiedMatching MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:exactMatch mesh:C537398 semapv:UnspecifiedMatching MONDO:0009872 Bjornstad syndrome skos:exactMatch DOID:0050677 Bjornstad syndrome semapv:UnspecifiedMatching MONDO:0009872 Bjornstad syndrome skos:exactMatch OMIM:262000 bjornstad syndrome semapv:UnspecifiedMatching MONDO:0009872 Bjornstad syndrome skos:exactMatch Orphanet:123 Björnstad syndrome semapv:UnspecifiedMatching MONDO:0009872 Bjornstad syndrome skos:exactMatch UMLS:C0266006 semapv:UnspecifiedMatching MONDO:0009872 Bjornstad syndrome skos:exactMatch mesh:C537633 semapv:UnspecifiedMatching MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:exactMatch OMIM:262020 pilodental dysplasia with refractive errors semapv:UnspecifiedMatching MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:exactMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:UnspecifiedMatching MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:exactMatch UMLS:C1849805 semapv:UnspecifiedMatching MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:exactMatch mesh:C535763 semapv:UnspecifiedMatching MONDO:0009874 Rabson-Mendenhall syndrome skos:exactMatch NCIT:C131000 Rabson-Mendenhall Syndrome semapv:UnspecifiedMatching MONDO:0009874 Rabson-Mendenhall syndrome skos:exactMatch OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities semapv:UnspecifiedMatching MONDO:0009874 Rabson-Mendenhall syndrome skos:exactMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:UnspecifiedMatching MONDO:0009874 Rabson-Mendenhall syndrome skos:exactMatch SCTID:33559001 semapv:UnspecifiedMatching MONDO:0009874 Rabson-Mendenhall syndrome skos:exactMatch UMLS:C0271695 semapv:UnspecifiedMatching MONDO:0009875 achromatopsia 3 skos:exactMatch DOID:0110008 achromatopsia 3 semapv:UnspecifiedMatching MONDO:0009875 achromatopsia 3 skos:exactMatch OMIM:262300 achromatopsia 3 semapv:UnspecifiedMatching MONDO:0009875 achromatopsia 3 skos:exactMatch UMLS:C1849792 semapv:UnspecifiedMatching MONDO:0009876 isolated growth hormone deficiency type IA skos:exactMatch DOID:0060873 isolated growth hormone deficiency type IA semapv:UnspecifiedMatching MONDO:0009876 isolated growth hormone deficiency type IA skos:exactMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:UnspecifiedMatching MONDO:0009876 isolated growth hormone deficiency type IA skos:exactMatch Orphanet:231662 Isolated growth hormone deficiency type IA semapv:UnspecifiedMatching MONDO:0009876 isolated growth hormone deficiency type IA skos:exactMatch SCTID:237837007 semapv:UnspecifiedMatching MONDO:0009876 isolated growth hormone deficiency type IA skos:exactMatch mesh:C537404 semapv:UnspecifiedMatching MONDO:0009877 Laron syndrome skos:exactMatch DOID:9521 Laron syndrome semapv:UnspecifiedMatching MONDO:0009877 Laron syndrome skos:exactMatch NCIT:C130994 Laron Syndrome semapv:UnspecifiedMatching MONDO:0009877 Laron syndrome skos:exactMatch OMIM:262500 laron syndrome semapv:UnspecifiedMatching MONDO:0009877 Laron syndrome skos:exactMatch Orphanet:633 Laron syndrome semapv:UnspecifiedMatching MONDO:0009877 Laron syndrome skos:exactMatch SCTID:38196001 semapv:UnspecifiedMatching MONDO:0009877 Laron syndrome skos:exactMatch UMLS:C0271568 semapv:UnspecifiedMatching MONDO:0009877 Laron syndrome skos:exactMatch mesh:D046150 semapv:UnspecifiedMatching MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:exactMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:UnspecifiedMatching MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:exactMatch UMLS:C0878683 semapv:UnspecifiedMatching MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:exactMatch mesh:C563172 semapv:UnspecifiedMatching MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:exactMatch OMIM:262650 kowarski syndrome semapv:UnspecifiedMatching MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:exactMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:UnspecifiedMatching MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:exactMatch UMLS:C1849779 semapv:UnspecifiedMatching MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:exactMatch mesh:C537505 semapv:UnspecifiedMatching MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:exactMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:UnspecifiedMatching MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:exactMatch Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome semapv:UnspecifiedMatching MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:exactMatch UMLS:C2678408 semapv:UnspecifiedMatching MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:exactMatch mesh:C567492 semapv:UnspecifiedMatching MONDO:0009881 pituitary dwarfism with large sella turcica skos:exactMatch OMIM:262710 pituitary dwarfism with large sella turcica semapv:UnspecifiedMatching MONDO:0009881 pituitary dwarfism with large sella turcica skos:exactMatch SCTID:27270004 semapv:UnspecifiedMatching MONDO:0009881 pituitary dwarfism with large sella turcica skos:exactMatch UMLS:C0271575 semapv:UnspecifiedMatching MONDO:0009881 pituitary dwarfism with large sella turcica skos:exactMatch mesh:C562705 semapv:UnspecifiedMatching MONDO:0009882 plasma clot retraction factor, deficiency of skos:exactMatch OMIM:262800 plasma clot retraction factor, deficiency of semapv:UnspecifiedMatching MONDO:0009882 plasma clot retraction factor, deficiency of skos:exactMatch UMLS:C1849778 semapv:UnspecifiedMatching MONDO:0009882 plasma clot retraction factor, deficiency of skos:exactMatch mesh:C564885 semapv:UnspecifiedMatching MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:exactMatch DOID:0060601 alpha-2-plasmin inhibitor deficiency semapv:UnspecifiedMatching MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:exactMatch OMIM:262850 alpha-2-plasmin inhibitor deficiency semapv:UnspecifiedMatching MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:exactMatch Orphanet:79 Congenital alpha2-antiplasmin deficiency semapv:UnspecifiedMatching MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:exactMatch SCTID:716746003 semapv:UnspecifiedMatching MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:exactMatch UMLS:C2752081 semapv:UnspecifiedMatching MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:exactMatch mesh:C537777 semapv:UnspecifiedMatching MONDO:0009884 platelet prostacyclin receptor defect skos:exactMatch OMIM:262875 platelet prostacyclin receptor defect semapv:UnspecifiedMatching MONDO:0009884 platelet prostacyclin receptor defect skos:exactMatch UMLS:C1849774 semapv:UnspecifiedMatching MONDO:0009884 platelet prostacyclin receptor defect skos:exactMatch mesh:C564884 semapv:UnspecifiedMatching MONDO:0009885 Scott syndrome skos:exactMatch DOID:0111052 Scott syndrome semapv:UnspecifiedMatching MONDO:0009885 Scott syndrome skos:exactMatch OMIM:262890 scott syndrome semapv:UnspecifiedMatching MONDO:0009885 Scott syndrome skos:exactMatch Orphanet:806 Scott syndrome semapv:UnspecifiedMatching MONDO:0009885 Scott syndrome skos:exactMatch SCTID:128098009 semapv:UnspecifiedMatching MONDO:0009885 Scott syndrome skos:exactMatch UMLS:C0796149 semapv:UnspecifiedMatching MONDO:0009885 Scott syndrome skos:exactMatch mesh:C563120 semapv:UnspecifiedMatching MONDO:0009886 pleoconial myopathy with salt craving skos:exactMatch OMIM:262900 pleoconial myopathy with salt craving semapv:UnspecifiedMatching MONDO:0009886 pleoconial myopathy with salt craving skos:exactMatch UMLS:C1849773 semapv:UnspecifiedMatching MONDO:0009886 pleoconial myopathy with salt craving skos:exactMatch mesh:C564883 semapv:UnspecifiedMatching MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch DOID:0050158 desquamative interstitial pneumonia semapv:UnspecifiedMatching MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch NCIT:C35288 Desquamative Interstitial Pneumonia semapv:UnspecifiedMatching MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:UnspecifiedMatching MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:UnspecifiedMatching MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch SCTID:8549006 semapv:UnspecifiedMatching MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch UMLS:C0238378 semapv:UnspecifiedMatching MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch mesh:C562470 semapv:UnspecifiedMatching MONDO:0009888 polycystic kidney, cataract, and congenital blindness skos:exactMatch OMIM:263100 polycystic kidney, cataract, and congenital blindness semapv:UnspecifiedMatching MONDO:0009888 polycystic kidney, cataract, and congenital blindness skos:exactMatch UMLS:C1849771 semapv:UnspecifiedMatching MONDO:0009888 polycystic kidney, cataract, and congenital blindness skos:exactMatch mesh:C564882 semapv:UnspecifiedMatching MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch DOID:0110861 autosomal recessive polycystic kidney disease semapv:UnspecifiedMatching MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch NCIT:C84579 Autosomal Recessive Polycystic Kidney Disease semapv:UnspecifiedMatching MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:UnspecifiedMatching MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch SCTID:28770003 semapv:UnspecifiedMatching MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch UMLS:C0085548 semapv:UnspecifiedMatching MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:exactMatch OMIM:263210 gillessen-kaesbach-nishimura syndrome semapv:UnspecifiedMatching MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:exactMatch UMLS:C1849762 semapv:UnspecifiedMatching MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:exactMatch mesh:C564881 semapv:UnspecifiedMatching MONDO:0009891 acquired polycythemia vera skos:exactMatch DOID:8997 polycythemia vera semapv:UnspecifiedMatching MONDO:0009891 acquired polycythemia vera skos:exactMatch ICD10CM:D45 Polycythemia vera semapv:UnspecifiedMatching MONDO:0009891 acquired polycythemia vera skos:exactMatch NCIT:C3336 Polycythemia Vera semapv:UnspecifiedMatching MONDO:0009891 acquired polycythemia vera skos:exactMatch OMIM:263300 polycythemia vera semapv:UnspecifiedMatching MONDO:0009891 acquired polycythemia vera skos:exactMatch Orphanet:729 Polycythemia vera semapv:UnspecifiedMatching MONDO:0009891 acquired polycythemia vera skos:exactMatch UMLS:C0032463 semapv:UnspecifiedMatching MONDO:0009891 acquired polycythemia vera skos:exactMatch mesh:D011087 semapv:UnspecifiedMatching MONDO:0009892 Chuvash polycythemia skos:exactMatch DOID:0060474 familial erythrocytosis 2 semapv:UnspecifiedMatching MONDO:0009892 Chuvash polycythemia skos:exactMatch OMIM:263400 erythrocytosis, familial, 2 semapv:UnspecifiedMatching MONDO:0009892 Chuvash polycythemia skos:exactMatch Orphanet:238557 Chuvash erythrocytosis semapv:UnspecifiedMatching MONDO:0009892 Chuvash polycythemia skos:exactMatch UMLS:C1837915 semapv:UnspecifiedMatching MONDO:0009892 Chuvash polycythemia skos:exactMatch mesh:C563918 semapv:UnspecifiedMatching MONDO:0009893 polydactyly, postaxial, type A5 skos:exactMatch OMIM:263450 polydactyly, postaxial, iia a5 semapv:UnspecifiedMatching MONDO:0009893 polydactyly, postaxial, type A5 skos:exactMatch UMLS:C3550661 semapv:UnspecifiedMatching MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly semapv:UnspecifiedMatching MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch NCIT:C122654 Short-Rib Thoracic Dysplasia 6 with or without Polydactyly semapv:UnspecifiedMatching MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch OMIM:263520 short-rib thoracic dysplasia 6 with or without polydactyly semapv:UnspecifiedMatching MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:exactMatch OMIM:263540 polydactyly, postaxial, with dental and vertebral anomalies semapv:UnspecifiedMatching MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:exactMatch Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:UnspecifiedMatching MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:exactMatch UMLS:C1849732 semapv:UnspecifiedMatching MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:exactMatch mesh:C564880 semapv:UnspecifiedMatching MONDO:0009896 polymyoclonus, infantile skos:exactMatch OMIM:263550 polymyoclonus, infantile semapv:UnspecifiedMatching MONDO:0009896 polymyoclonus, infantile skos:exactMatch UMLS:C1849731 semapv:UnspecifiedMatching MONDO:0009896 polymyoclonus, infantile skos:exactMatch mesh:C535524 semapv:UnspecifiedMatching MONDO:0009897 adult polyglucosan body disease skos:exactMatch OMIM:263570 polyglucosan body neuropathy, adult form semapv:UnspecifiedMatching MONDO:0009897 adult polyglucosan body disease skos:exactMatch Orphanet:206583 Adult polyglucosan body disease semapv:UnspecifiedMatching MONDO:0009897 adult polyglucosan body disease skos:exactMatch SCTID:721099001 semapv:UnspecifiedMatching MONDO:0009897 adult polyglucosan body disease skos:exactMatch mesh:C564878 semapv:UnspecifiedMatching MONDO:0009898 polysaccharide, storage of unusual skos:exactMatch OMIM:263600 polysaccharide, storage of unusual semapv:UnspecifiedMatching MONDO:0009898 polysaccharide, storage of unusual skos:exactMatch mesh:C564877 semapv:UnspecifiedMatching MONDO:0009899 polyhydramnios, chronic idiopathic skos:exactMatch OMIM:263610 polyhydramnios, chronic idiopathic semapv:UnspecifiedMatching MONDO:0009899 polyhydramnios, chronic idiopathic skos:exactMatch UMLS:C1849720 semapv:UnspecifiedMatching MONDO:0009899 polyhydramnios, chronic idiopathic skos:exactMatch mesh:C564876 semapv:UnspecifiedMatching MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:exactMatch OMIM:263630 polysyndactyly with cardiac malformation semapv:UnspecifiedMatching MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:exactMatch Orphanet:2934 Polysyndactyly-cardiac malformation syndrome semapv:UnspecifiedMatching MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:exactMatch SCTID:724066002 semapv:UnspecifiedMatching MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:exactMatch UMLS:C1849719 semapv:UnspecifiedMatching MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:exactMatch mesh:C564875 semapv:UnspecifiedMatching MONDO:0009901 Bartsocas-Papas syndrome 1 skos:exactMatch NCIT:C168990 Bartsocas-Papas Syndrome semapv:UnspecifiedMatching MONDO:0009901 Bartsocas-Papas syndrome 1 skos:exactMatch OMIM:263650 bartsocas-papas syndrome 1 semapv:UnspecifiedMatching MONDO:0009901 Bartsocas-Papas syndrome 1 skos:exactMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:UnspecifiedMatching MONDO:0009901 Bartsocas-Papas syndrome 1 skos:exactMatch SCTID:722376008 semapv:UnspecifiedMatching MONDO:0009901 Bartsocas-Papas syndrome 1 skos:exactMatch UMLS:C1849718 semapv:UnspecifiedMatching MONDO:0009901 Bartsocas-Papas syndrome 1 skos:exactMatch mesh:C564874 semapv:UnspecifiedMatching MONDO:0009902 cutaneous porphyria skos:exactMatch DOID:13271 cutaneous porphyria semapv:UnspecifiedMatching MONDO:0009902 cutaneous porphyria skos:exactMatch NCIT:C84697 Erythropoietic Porphyria semapv:UnspecifiedMatching MONDO:0009902 cutaneous porphyria skos:exactMatch OMIM:263700 porphyria, congenital erythropoietic semapv:UnspecifiedMatching MONDO:0009902 cutaneous porphyria skos:exactMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:UnspecifiedMatching MONDO:0009902 cutaneous porphyria skos:exactMatch SCTID:67312003 semapv:UnspecifiedMatching MONDO:0009902 cutaneous porphyria skos:exactMatch mesh:D017092 semapv:UnspecifiedMatching MONDO:0009903 postaxial acrofacial dysostosis skos:exactMatch DOID:0111259 postaxial acrofacial dysostosis semapv:UnspecifiedMatching MONDO:0009903 postaxial acrofacial dysostosis skos:exactMatch OMIM:263750 postaxial acrofacial dysostosis semapv:UnspecifiedMatching MONDO:0009903 postaxial acrofacial dysostosis skos:exactMatch Orphanet:246 Postaxial acrofacial dysostosis semapv:UnspecifiedMatching MONDO:0009903 postaxial acrofacial dysostosis skos:exactMatch SCTID:66038001 semapv:UnspecifiedMatching MONDO:0009903 postaxial acrofacial dysostosis skos:exactMatch UMLS:C0265257 semapv:UnspecifiedMatching MONDO:0009903 postaxial acrofacial dysostosis skos:exactMatch mesh:C537680 semapv:UnspecifiedMatching MONDO:0009904 Gitelman syndrome skos:exactMatch DOID:0050450 Gitelman syndrome semapv:UnspecifiedMatching MONDO:0009904 Gitelman syndrome skos:exactMatch NCIT:C84730 Gitelman Syndrome semapv:UnspecifiedMatching MONDO:0009904 Gitelman syndrome skos:exactMatch OMIM:263800 gitelman syndrome semapv:UnspecifiedMatching MONDO:0009904 Gitelman syndrome skos:exactMatch Orphanet:358 Gitelman syndrome semapv:UnspecifiedMatching MONDO:0009904 Gitelman syndrome skos:exactMatch SCTID:707756004 semapv:UnspecifiedMatching MONDO:0009904 Gitelman syndrome skos:exactMatch UMLS:C0268450 semapv:UnspecifiedMatching MONDO:0009904 Gitelman syndrome skos:exactMatch mesh:D053579 semapv:UnspecifiedMatching MONDO:0009905 urban-Rogers-Meyer syndrome skos:exactMatch OMIM:264010 prader-willi habitus, osteopenia, and camptodactyly semapv:UnspecifiedMatching MONDO:0009905 urban-Rogers-Meyer syndrome skos:exactMatch Orphanet:3409 Urban-Rogers-Meyer syndrome semapv:UnspecifiedMatching MONDO:0009905 urban-Rogers-Meyer syndrome skos:exactMatch SCTID:716334004 semapv:UnspecifiedMatching MONDO:0009905 urban-Rogers-Meyer syndrome skos:exactMatch UMLS:C0796189 semapv:UnspecifiedMatching MONDO:0009905 urban-Rogers-Meyer syndrome skos:exactMatch mesh:C538276 semapv:UnspecifiedMatching MONDO:0009906 prenatal bowing skos:exactMatch OMIM:264050 prenatal bowing semapv:UnspecifiedMatching MONDO:0009906 prenatal bowing skos:exactMatch mesh:C564873 semapv:UnspecifiedMatching MONDO:0009907 Prepapillary vascular loops skos:exactMatch OMIM:264060 prepapillary vascular loops semapv:UnspecifiedMatching MONDO:0009907 Prepapillary vascular loops skos:exactMatch SCTID:424728002 semapv:UnspecifiedMatching MONDO:0009907 Prepapillary vascular loops skos:exactMatch mesh:C563287 semapv:UnspecifiedMatching MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:exactMatch DOID:0081131 BH4-deficient hyperphenylalaninemia D semapv:UnspecifiedMatching MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:exactMatch OMIM:264070 hyperphenylalaninemia, bh4-deficient, d semapv:UnspecifiedMatching MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:exactMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:UnspecifiedMatching MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:exactMatch SCTID:124646004 semapv:UnspecifiedMatching MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:exactMatch mesh:C538382 semapv:UnspecifiedMatching MONDO:0009909 progesterone resistance skos:exactMatch OMIM:264080 progesterone resistance semapv:UnspecifiedMatching MONDO:0009909 progesterone resistance skos:exactMatch UMLS:C1849699 semapv:UnspecifiedMatching MONDO:0009909 progesterone resistance skos:exactMatch mesh:C564871 semapv:UnspecifiedMatching MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:exactMatch DOID:0081333 Wiedemann-Rautenstrauch syndrome semapv:UnspecifiedMatching MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:exactMatch NCIT:C121565 Neonatal Progeroid Syndrome semapv:UnspecifiedMatching MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:exactMatch OMIM:264090 wiedemann-rautenstrauch syndrome semapv:UnspecifiedMatching MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:exactMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:UnspecifiedMatching MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:exactMatch SCTID:238874008 semapv:UnspecifiedMatching MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:exactMatch UMLS:C0406586 semapv:UnspecifiedMatching MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:exactMatch mesh:C536423 semapv:UnspecifiedMatching MONDO:0009911 prolactin deficiency, isolated skos:exactMatch OMIM:264110 prolactin deficiency, isolated semapv:UnspecifiedMatching MONDO:0009911 prolactin deficiency, isolated skos:exactMatch SCTID:67873006 semapv:UnspecifiedMatching MONDO:0009911 prolactin deficiency, isolated skos:exactMatch mesh:C562708 semapv:UnspecifiedMatching MONDO:0009912 prolactin deficiency with obesity and enlarged testes skos:exactMatch OMIM:264120 prolactin deficiency with obesity and enlarged testes semapv:UnspecifiedMatching MONDO:0009912 prolactin deficiency with obesity and enlarged testes skos:exactMatch UMLS:C1849698 semapv:UnspecifiedMatching MONDO:0009912 prolactin deficiency with obesity and enlarged testes skos:exactMatch mesh:C564870 semapv:UnspecifiedMatching MONDO:0009913 prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness skos:exactMatch OMIM:264140 prune belly syndrome with pulmonic stenosis, mental retardation, and deafness semapv:UnspecifiedMatching MONDO:0009913 prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness skos:exactMatch SCTID:236529001 semapv:UnspecifiedMatching MONDO:0009913 prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness skos:exactMatch UMLS:C0403551 semapv:UnspecifiedMatching MONDO:0009913 prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness skos:exactMatch mesh:C562894 semapv:UnspecifiedMatching MONDO:0009914 pseudodiastrophic dysplasia skos:exactMatch OMIM:264180 pseudodiastrophic dysplasia semapv:UnspecifiedMatching MONDO:0009914 pseudodiastrophic dysplasia skos:exactMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:UnspecifiedMatching MONDO:0009914 pseudodiastrophic dysplasia skos:exactMatch SCTID:254058002 semapv:UnspecifiedMatching MONDO:0009914 pseudodiastrophic dysplasia skos:exactMatch UMLS:C0432206 semapv:UnspecifiedMatching MONDO:0009914 pseudodiastrophic dysplasia skos:exactMatch mesh:C535826 semapv:UnspecifiedMatching MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:exactMatch OMIM:264270 pseudohermaphroditism, female, with skeletal anomalies semapv:UnspecifiedMatching MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:exactMatch Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome semapv:UnspecifiedMatching MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:exactMatch UMLS:C1849696 semapv:UnspecifiedMatching MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:exactMatch mesh:C564869 semapv:UnspecifiedMatching MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:UnspecifiedMatching MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch NCIT:C120203 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency semapv:UnspecifiedMatching MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:UnspecifiedMatching MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:UnspecifiedMatching MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch SCTID:50658006 semapv:UnspecifiedMatching MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch mesh:C537805 semapv:UnspecifiedMatching MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch mesh:C564868 semapv:UnspecifiedMatching MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:exactMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:UnspecifiedMatching MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:exactMatch OMIM:264350 pseudohypoaldosteronism, iia ib1, autosomal recessive semapv:UnspecifiedMatching MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:exactMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:UnspecifiedMatching MONDO:0009918 fundus dystrophy, pseudoinflammatory, recessive form skos:exactMatch OMIM:264420 fundus dystrophy, pseudoinflammatory, recessive form semapv:UnspecifiedMatching MONDO:0009918 fundus dystrophy, pseudoinflammatory, recessive form skos:exactMatch UMLS:C1849694 semapv:UnspecifiedMatching MONDO:0009918 fundus dystrophy, pseudoinflammatory, recessive form skos:exactMatch mesh:C535828 semapv:UnspecifiedMatching MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch DOID:0050797 peroxisomal acyl-CoA oxidase deficiency semapv:UnspecifiedMatching MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch NCIT:C170437 Peroxisomal Acyl-CoA Oxidase Deficiency semapv:UnspecifiedMatching MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch OMIM:264470 peroxisomal acyl-coa oxidase deficiency semapv:UnspecifiedMatching MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:UnspecifiedMatching MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch SCTID:238069004 semapv:UnspecifiedMatching MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch UMLS:C1849678 semapv:UnspecifiedMatching MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch mesh:C536662 semapv:UnspecifiedMatching MONDO:0009920 Acrootoocular syndrome skos:exactMatch OMIM:264475 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies semapv:UnspecifiedMatching MONDO:0009920 Acrootoocular syndrome skos:exactMatch Orphanet:2980 Acrootoocular syndrome semapv:UnspecifiedMatching MONDO:0009920 Acrootoocular syndrome skos:exactMatch SCTID:720410001 semapv:UnspecifiedMatching MONDO:0009920 Acrootoocular syndrome skos:exactMatch UMLS:C1849661 semapv:UnspecifiedMatching MONDO:0009920 Acrootoocular syndrome skos:exactMatch mesh:C564866 semapv:UnspecifiedMatching MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:exactMatch NCIT:C125418 Pseudotrisomy 13 Syndrome semapv:UnspecifiedMatching MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:exactMatch OMIM:264480 pseudotrisomy 13 syndrome semapv:UnspecifiedMatching MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:exactMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:UnspecifiedMatching MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:exactMatch SCTID:716091000 semapv:UnspecifiedMatching MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:exactMatch UMLS:C1849649 semapv:UnspecifiedMatching MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:exactMatch mesh:C535829 semapv:UnspecifiedMatching MONDO:0009922 Pseudouridinuria and mental defect skos:exactMatch OMIM:264500 pseudouridinuria and mental defect semapv:UnspecifiedMatching MONDO:0009922 Pseudouridinuria and mental defect skos:exactMatch UMLS:C1849648 semapv:UnspecifiedMatching MONDO:0009922 Pseudouridinuria and mental defect skos:exactMatch mesh:C564864 semapv:UnspecifiedMatching MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch NCIT:C98699 5 Alpha Steroid Reductase 2 Deficiency semapv:UnspecifiedMatching MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch OMIM:264600 pseudovaginal perineoscrotal hypospadias semapv:UnspecifiedMatching MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency semapv:UnspecifiedMatching MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch SCTID:57514000 semapv:UnspecifiedMatching MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch mesh:C535830 semapv:UnspecifiedMatching MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch NCIT:C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency semapv:UnspecifiedMatching MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:UnspecifiedMatching MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch SCTID:67049004 semapv:UnspecifiedMatching MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch UMLS:C0268689 semapv:UnspecifiedMatching MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch mesh:C562688 semapv:UnspecifiedMatching MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:exactMatch DOID:2738 pseudoxanthoma elasticum semapv:UnspecifiedMatching MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:exactMatch NCIT:C85036 Pseudoxanthoma Elasticum semapv:UnspecifiedMatching MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:exactMatch OMIM:264800 pseudoxanthoma elasticum semapv:UnspecifiedMatching MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:exactMatch Orphanet:758 Pseudoxanthoma elasticum semapv:UnspecifiedMatching MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:exactMatch SCTID:402782006 semapv:UnspecifiedMatching MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:exactMatch SCTID:72744008 semapv:UnspecifiedMatching MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:exactMatch UMLS:C0033847 semapv:UnspecifiedMatching MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:exactMatch mesh:D011561 semapv:UnspecifiedMatching MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch NCIT:C101039 Escobar Syndrome semapv:UnspecifiedMatching MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:UnspecifiedMatching MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:UnspecifiedMatching MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch SCTID:80773006 semapv:UnspecifiedMatching MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch UMLS:C0265261 semapv:UnspecifiedMatching MONDO:0009927 3MC syndrome 2 skos:exactMatch DOID:0060576 3MC syndrome 2 semapv:UnspecifiedMatching MONDO:0009927 3MC syndrome 2 skos:exactMatch OMIM:265050 3mc syndrome 2 semapv:UnspecifiedMatching MONDO:0009927 3MC syndrome 2 skos:exactMatch mesh:C535586 semapv:UnspecifiedMatching MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch DOID:12117 pulmonary alveolar microlithiasis semapv:UnspecifiedMatching MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch ICD10CM:J84.02 Pulmonary alveolar microlithiasis semapv:UnspecifiedMatching MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch OMIM:265100 pulmonary alveolar microlithiasis semapv:UnspecifiedMatching MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:UnspecifiedMatching MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch SCTID:87153008 semapv:UnspecifiedMatching MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch UMLS:C0155912 semapv:UnspecifiedMatching MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch mesh:C562405 semapv:UnspecifiedMatching MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:exactMatch OMIM:265120 surfactant metabolism dysfunction, pulmonary, 1 semapv:UnspecifiedMatching MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:exactMatch Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency semapv:UnspecifiedMatching MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:exactMatch UMLS:C1968602 semapv:UnspecifiedMatching MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:exactMatch mesh:C566882 semapv:UnspecifiedMatching MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:exactMatch NCIT:C99029 Pulmonary Arteriovenous Fistula semapv:UnspecifiedMatching MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:exactMatch OMIM:265140 pulmonary arteriovenous fistulas semapv:UnspecifiedMatching MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:exactMatch Orphanet:2038 Pulmonary arteriovenous malformation semapv:UnspecifiedMatching MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:exactMatch SCTID:303070000 semapv:UnspecifiedMatching MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:exactMatch UMLS:C0155675 semapv:UnspecifiedMatching MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:exactMatch mesh:C562404 semapv:UnspecifiedMatching MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch NCIT:C99032 Pulmonary Valve Atresia with Intact Ventricular Septum semapv:UnspecifiedMatching MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch OMIM:265150 pulmonary atresia with intact ventricular septum semapv:UnspecifiedMatching MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome semapv:UnspecifiedMatching MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch SCTID:253590009 semapv:UnspecifiedMatching MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch UMLS:C0344975 semapv:UnspecifiedMatching MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch mesh:C562832 semapv:UnspecifiedMatching MONDO:0009932 pulmonary bullae causing pneumothorax skos:exactMatch OMIM:265200 pulmonary bullae causing pneumothorax semapv:UnspecifiedMatching MONDO:0009932 pulmonary bullae causing pneumothorax skos:exactMatch UMLS:C1849566 semapv:UnspecifiedMatching MONDO:0009932 pulmonary bullae causing pneumothorax skos:exactMatch mesh:C564863 semapv:UnspecifiedMatching MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch NCIT:C99034 Congenital Pulmonary Lymphangiectasia semapv:UnspecifiedMatching MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:UnspecifiedMatching MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:UnspecifiedMatching MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch SCTID:45142002 semapv:UnspecifiedMatching MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch UMLS:C1849554 semapv:UnspecifiedMatching MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch mesh:C537727 semapv:UnspecifiedMatching MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch DOID:13042 persistent fetal circulation syndrome semapv:UnspecifiedMatching MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch NCIT:C98809 Alveolar Capillary Dysplasia semapv:UnspecifiedMatching MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins semapv:UnspecifiedMatching MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:UnspecifiedMatching MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch SCTID:447275002 semapv:UnspecifiedMatching MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch UMLS:C2960310 semapv:UnspecifiedMatching MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch mesh:C536590 semapv:UnspecifiedMatching MONDO:0009935 pulmonary hypertension, primary, autosomal recessive skos:exactMatch OMIM:265400 pulmonary hypertension, primary, 5 semapv:UnspecifiedMatching MONDO:0009935 pulmonary hypertension, primary, autosomal recessive skos:exactMatch UMLS:C5676877 semapv:UnspecifiedMatching MONDO:0009935 pulmonary hypertension, primary, autosomal recessive skos:exactMatch mesh:C564862 semapv:UnspecifiedMatching MONDO:0009936 familial primary pulmonary hypoplasia skos:exactMatch OMIM:265430 pulmonary hypoplasia, primary semapv:UnspecifiedMatching MONDO:0009936 familial primary pulmonary hypoplasia skos:exactMatch Orphanet:2257 Primary pulmonary hypoplasia semapv:UnspecifiedMatching MONDO:0009936 familial primary pulmonary hypoplasia skos:exactMatch SCTID:277656005 semapv:UnspecifiedMatching MONDO:0009936 familial primary pulmonary hypoplasia skos:exactMatch UMLS:C0456891 semapv:UnspecifiedMatching MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch DOID:5453 pulmonary venoocclusive disease semapv:UnspecifiedMatching MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch NCIT:C85039 Pulmonary Veno-Occlusive Disease semapv:UnspecifiedMatching MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch OMIMPS:265450 semapv:UnspecifiedMatching MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:UnspecifiedMatching MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch SCTID:89420002 semapv:UnspecifiedMatching MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch UMLS:C0034091 semapv:UnspecifiedMatching MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch mesh:D011668 semapv:UnspecifiedMatching MONDO:0009938 pulmonic stenosis skos:exactMatch OMIM:265500 pulmonic stenosis semapv:UnspecifiedMatching MONDO:0009938 pulmonic stenosis skos:exactMatch UMLS:C1956257 semapv:UnspecifiedMatching MONDO:0009939 pulmonic stenosis and congenital nephrosis skos:exactMatch OMIM:265600 pulmonic stenosis and congenital nephrosis semapv:UnspecifiedMatching MONDO:0009939 pulmonic stenosis and congenital nephrosis skos:exactMatch SCTID:236530006 semapv:UnspecifiedMatching MONDO:0009939 pulmonic stenosis and congenital nephrosis skos:exactMatch UMLS:C0403552 semapv:UnspecifiedMatching MONDO:0009939 pulmonic stenosis and congenital nephrosis skos:exactMatch mesh:C562895 semapv:UnspecifiedMatching MONDO:0009940 pycnodysostosis skos:exactMatch DOID:0080038 pycnodysostosis semapv:UnspecifiedMatching MONDO:0009940 pycnodysostosis skos:exactMatch NCIT:C131187 Pycnodysostosis semapv:UnspecifiedMatching MONDO:0009940 pycnodysostosis skos:exactMatch OMIM:265800 pycnodysostosis semapv:UnspecifiedMatching MONDO:0009940 pycnodysostosis skos:exactMatch Orphanet:763 Pycnodysostosis semapv:UnspecifiedMatching MONDO:0009940 pycnodysostosis skos:exactMatch SCTID:89647000 semapv:UnspecifiedMatching MONDO:0009940 pycnodysostosis skos:exactMatch UMLS:C0238402 semapv:UnspecifiedMatching MONDO:0009940 pycnodysostosis skos:exactMatch mesh:D058631 semapv:UnspecifiedMatching MONDO:0009941 Pygmy skos:exactMatch OMIM:265850 pygmy semapv:UnspecifiedMatching MONDO:0009941 Pygmy skos:exactMatch UMLS:C1849524 semapv:UnspecifiedMatching MONDO:0009942 pyknoachondrogenesis skos:exactMatch OMIM:265880 pyknoachondrogenesis semapv:UnspecifiedMatching MONDO:0009942 pyknoachondrogenesis skos:exactMatch Orphanet:3003 Pyknoachondrogenesis semapv:UnspecifiedMatching MONDO:0009942 pyknoachondrogenesis skos:exactMatch SCTID:719258003 semapv:UnspecifiedMatching MONDO:0009942 pyknoachondrogenesis skos:exactMatch UMLS:C1849523 semapv:UnspecifiedMatching MONDO:0009942 pyknoachondrogenesis skos:exactMatch mesh:C536251 semapv:UnspecifiedMatching MONDO:0009943 Pyle disease skos:exactMatch DOID:0080019 metaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0009943 Pyle disease skos:exactMatch ICD10CM:Q78.5 Metaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0009943 Pyle disease skos:exactMatch OMIM:265900 pyle disease semapv:UnspecifiedMatching MONDO:0009943 Pyle disease skos:exactMatch Orphanet:3005 Pyle disease semapv:UnspecifiedMatching MONDO:0009943 Pyle disease skos:exactMatch SCTID:27837003 semapv:UnspecifiedMatching MONDO:0009943 Pyle disease skos:exactMatch mesh:C536252 semapv:UnspecifiedMatching MONDO:0009944 pyloric atresia skos:exactMatch OMIM:265950 pyloric atresia semapv:UnspecifiedMatching MONDO:0009944 pyloric atresia skos:exactMatch SCTID:27729002 semapv:UnspecifiedMatching MONDO:0009944 pyloric atresia skos:exactMatch mesh:C562561 semapv:UnspecifiedMatching MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch DOID:0080768 pyridoxine-dependent epilepsy semapv:UnspecifiedMatching MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:UnspecifiedMatching MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch SCTID:734434007 semapv:UnspecifiedMatching MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch UMLS:C1849508 semapv:UnspecifiedMatching MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch mesh:C536254 semapv:UnspecifiedMatching MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:exactMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:UnspecifiedMatching MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:exactMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:UnspecifiedMatching MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:exactMatch UMLS:C1849507 semapv:UnspecifiedMatching MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:exactMatch mesh:C564859 semapv:UnspecifiedMatching MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:exactMatch DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria semapv:UnspecifiedMatching MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:UnspecifiedMatching MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:exactMatch Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria semapv:UnspecifiedMatching MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:exactMatch SCTID:39112005 semapv:UnspecifiedMatching MONDO:0009948 pyropoikilocytosis, hereditary skos:exactMatch NCIT:C98943 Hereditary Pyropoikilocytosis semapv:UnspecifiedMatching MONDO:0009948 pyropoikilocytosis, hereditary skos:exactMatch OMIM:266140 pyropoikilocytosis, hereditary semapv:UnspecifiedMatching MONDO:0009948 pyropoikilocytosis, hereditary skos:exactMatch SCTID:9434008 semapv:UnspecifiedMatching MONDO:0009948 pyropoikilocytosis, hereditary skos:exactMatch mesh:C563004 semapv:UnspecifiedMatching MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch DOID:3651 pyruvate carboxylase deficiency disease semapv:UnspecifiedMatching MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch NCIT:C85040 Pyruvate Carboxylase Deficiency semapv:UnspecifiedMatching MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch OMIM:266150 pyruvate carboxylase deficiency semapv:UnspecifiedMatching MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:UnspecifiedMatching MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch SCTID:87694001 semapv:UnspecifiedMatching MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch UMLS:C0034341 semapv:UnspecifiedMatching MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch mesh:D015324 semapv:UnspecifiedMatching MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch DOID:0111077 pyruvate kinase deficiency of red cells semapv:UnspecifiedMatching MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch NCIT:C99037 Pyruvate Kinase Deficiency semapv:UnspecifiedMatching MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch OMIM:266200 pyruvate kinase deficiency of red cells semapv:UnspecifiedMatching MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:UnspecifiedMatching MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch SCTID:124331002 semapv:UnspecifiedMatching MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch UMLS:C0340968 semapv:UnspecifiedMatching MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch mesh:C564858 semapv:UnspecifiedMatching MONDO:0009951 radiculoneuropathy, fatal neonatal skos:exactMatch OMIM:266250 radiculoneuropathy, fatal neonatal semapv:UnspecifiedMatching MONDO:0009951 radiculoneuropathy, fatal neonatal skos:exactMatch UMLS:C1849471 semapv:UnspecifiedMatching MONDO:0009951 radiculoneuropathy, fatal neonatal skos:exactMatch mesh:C564857 semapv:UnspecifiedMatching MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:exactMatch OMIM:266255 radioulnar synostosis, unilateral, with developmental retardation and hypotonia semapv:UnspecifiedMatching MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:exactMatch Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome semapv:UnspecifiedMatching MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:exactMatch SCTID:721883006 semapv:UnspecifiedMatching MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:exactMatch mesh:C538217 semapv:UnspecifiedMatching MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:exactMatch mesh:C564856 semapv:UnspecifiedMatching MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch DOID:0070255 congenital disorder of glycosylation type IIc semapv:UnspecifiedMatching MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch DOID:0080492 leukocyte adhesion deficiency 2 semapv:UnspecifiedMatching MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch NCIT:C4690 Leukocyte Adhesion Deficiency Type 2 semapv:UnspecifiedMatching MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch OMIM:266265 congenital disorder of glycosylation, iia iic semapv:UnspecifiedMatching MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch Orphanet:99843 Leukocyte adhesion deficiency type II semapv:UnspecifiedMatching MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch SCTID:234583001 semapv:UnspecifiedMatching MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch UMLS:C0398739 semapv:UnspecifiedMatching MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch mesh:C535755 semapv:UnspecifiedMatching MONDO:0009954 Ramon syndrome skos:exactMatch OMIM:266270 ramon syndrome semapv:UnspecifiedMatching MONDO:0009954 Ramon syndrome skos:exactMatch Orphanet:3019 Ramon syndrome semapv:UnspecifiedMatching MONDO:0009954 Ramon syndrome skos:exactMatch UMLS:C0796133 semapv:UnspecifiedMatching MONDO:0009954 Ramon syndrome skos:exactMatch mesh:C535285 semapv:UnspecifiedMatching MONDO:0009955 rapadilino syndrome skos:exactMatch DOID:0050774 rapadilino syndrome semapv:UnspecifiedMatching MONDO:0009955 rapadilino syndrome skos:exactMatch OMIM:266280 rapadilino syndrome semapv:UnspecifiedMatching MONDO:0009955 rapadilino syndrome skos:exactMatch Orphanet:3021 RAPADILINO syndrome semapv:UnspecifiedMatching MONDO:0009955 rapadilino syndrome skos:exactMatch SCTID:702413000 semapv:UnspecifiedMatching MONDO:0009955 rapadilino syndrome skos:exactMatch UMLS:C1849453 semapv:UnspecifiedMatching MONDO:0009955 rapadilino syndrome skos:exactMatch mesh:C535288 semapv:UnspecifiedMatching MONDO:0009956 red skin pigment anomaly of new guinea skos:exactMatch OMIM:266350 red skin pigment anomaly of new guinea semapv:UnspecifiedMatching MONDO:0009956 red skin pigment anomaly of new guinea skos:exactMatch UMLS:C1849451 semapv:UnspecifiedMatching MONDO:0009956 red skin pigment anomaly of new guinea skos:exactMatch mesh:C535515 semapv:UnspecifiedMatching MONDO:0009957 Reese retinal dysplasia skos:exactMatch OMIM:266400 reese retinal dysplasia semapv:UnspecifiedMatching MONDO:0009957 Reese retinal dysplasia skos:exactMatch UMLS:C1849450 semapv:UnspecifiedMatching MONDO:0009957 Reese retinal dysplasia skos:exactMatch mesh:C564854 semapv:UnspecifiedMatching MONDO:0009958 adult Refsum disease skos:exactMatch DOID:10582 Refsum disease semapv:UnspecifiedMatching MONDO:0009958 adult Refsum disease skos:exactMatch ICD10CM:G60.1 Refsum's disease semapv:UnspecifiedMatching MONDO:0009958 adult Refsum disease skos:exactMatch OMIM:266500 refsum disease, classic semapv:UnspecifiedMatching MONDO:0009958 adult Refsum disease skos:exactMatch Orphanet:773 Refsum disease semapv:UnspecifiedMatching MONDO:0009958 adult Refsum disease skos:exactMatch SCTID:25362006 semapv:UnspecifiedMatching MONDO:0009958 adult Refsum disease skos:exactMatch mesh:D012035 semapv:UnspecifiedMatching MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch DOID:0081241 peroxisome biogenesis disorder 3B semapv:UnspecifiedMatching MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch OMIM:266510 peroxisome biogenesis disorder 3b semapv:UnspecifiedMatching MONDO:0009960 inflammatory bowel disease 1 skos:exactMatch DOID:0110892 inflammatory bowel disease 1 semapv:UnspecifiedMatching MONDO:0009960 inflammatory bowel disease 1 skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:UnspecifiedMatching MONDO:0009960 inflammatory bowel disease 1 skos:exactMatch SCTID:34000006 semapv:UnspecifiedMatching MONDO:0009961 renal and mullerian duct hypoplasia skos:exactMatch OMIM:266810 renal and mullerian duct hypoplasia semapv:UnspecifiedMatching MONDO:0009961 renal and mullerian duct hypoplasia skos:exactMatch UMLS:C1849439 semapv:UnspecifiedMatching MONDO:0009961 renal and mullerian duct hypoplasia skos:exactMatch mesh:C564853 semapv:UnspecifiedMatching MONDO:0009962 Senior-Loken syndrome 1 skos:exactMatch OMIM:266900 senior-loken syndrome 1 semapv:UnspecifiedMatching MONDO:0009962 Senior-Loken syndrome 1 skos:exactMatch SCTID:236531005 semapv:UnspecifiedMatching MONDO:0009963 Ulbright-Hodes syndrome skos:exactMatch OMIM:266910 renal dysplasia-limb defects syndrome semapv:UnspecifiedMatching MONDO:0009963 Ulbright-Hodes syndrome skos:exactMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:UnspecifiedMatching MONDO:0009963 Ulbright-Hodes syndrome skos:exactMatch SCTID:719840003 semapv:UnspecifiedMatching MONDO:0009963 Ulbright-Hodes syndrome skos:exactMatch UMLS:C1849438 semapv:UnspecifiedMatching MONDO:0009963 Ulbright-Hodes syndrome skos:exactMatch mesh:C537754 semapv:UnspecifiedMatching MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:exactMatch DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly semapv:UnspecifiedMatching MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:exactMatch OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly semapv:UnspecifiedMatching MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:exactMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:UnspecifiedMatching MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:exactMatch SCTID:254092004 semapv:UnspecifiedMatching MONDO:0009965 Perlman syndrome skos:exactMatch DOID:0060476 Perlman syndrome semapv:UnspecifiedMatching MONDO:0009965 Perlman syndrome skos:exactMatch NCIT:C103144 Perlman Syndrome semapv:UnspecifiedMatching MONDO:0009965 Perlman syndrome skos:exactMatch OMIM:267000 perlman syndrome semapv:UnspecifiedMatching MONDO:0009965 Perlman syndrome skos:exactMatch Orphanet:2849 Perlman syndrome semapv:UnspecifiedMatching MONDO:0009965 Perlman syndrome skos:exactMatch SCTID:722231005 semapv:UnspecifiedMatching MONDO:0009965 Perlman syndrome skos:exactMatch UMLS:C0796113 semapv:UnspecifiedMatching MONDO:0009965 Perlman syndrome skos:exactMatch mesh:C536399 semapv:UnspecifiedMatching MONDO:0009966 NPHP3-related Meckel-like syndrome skos:exactMatch DOID:0070121 Meckel syndrome 7 semapv:UnspecifiedMatching MONDO:0009966 NPHP3-related Meckel-like syndrome skos:exactMatch OMIM:267010 meckel syndrome, iia 7 semapv:UnspecifiedMatching MONDO:0009966 NPHP3-related Meckel-like syndrome skos:exactMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:UnspecifiedMatching MONDO:0009966 NPHP3-related Meckel-like syndrome skos:exactMatch UMLS:C2673885 semapv:UnspecifiedMatching MONDO:0009966 NPHP3-related Meckel-like syndrome skos:exactMatch mesh:C537756 semapv:UnspecifiedMatching MONDO:0009967 renal tubular acidosis 3 skos:exactMatch OMIM:267200 renal tubular acidosis 3 semapv:UnspecifiedMatching MONDO:0009967 renal tubular acidosis 3 skos:exactMatch mesh:C537759 semapv:UnspecifiedMatching MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss semapv:UnspecifiedMatching MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch SCTID:236532003 semapv:UnspecifiedMatching MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch SCTID:722468005 semapv:UnspecifiedMatching MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch UMLS:C0403554 semapv:UnspecifiedMatching MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch mesh:C562897 semapv:UnspecifiedMatching MONDO:0009969 renal-genital-middle ear anomalies skos:exactMatch OMIM:267400 renal, genital, and middle ear anomalies semapv:UnspecifiedMatching MONDO:0009969 renal-genital-middle ear anomalies skos:exactMatch UMLS:C1849432 semapv:UnspecifiedMatching MONDO:0009969 renal-genital-middle ear anomalies skos:exactMatch mesh:C564849 semapv:UnspecifiedMatching MONDO:0009970 renal tubular dysgenesis of genetic origin skos:exactMatch OMIM:267430 renal tubular dysgenesis semapv:UnspecifiedMatching MONDO:0009970 renal tubular dysgenesis of genetic origin skos:exactMatch Orphanet:97369 Renal tubular dysgenesis of genetic origin semapv:UnspecifiedMatching MONDO:0009971 respiratory distress syndrome in premature infants skos:exactMatch OMIM:267450 respiratory distress syndrome 1n premature infants semapv:UnspecifiedMatching MONDO:0009971 respiratory distress syndrome in premature infants skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:UnspecifiedMatching MONDO:0009971 respiratory distress syndrome in premature infants skos:exactMatch UMLS:C1968593 semapv:UnspecifiedMatching MONDO:0009971 respiratory distress syndrome in premature infants skos:exactMatch mesh:C566881 semapv:UnspecifiedMatching MONDO:0009972 respiratory underresponsiveness to hypoxia and hypercapnia skos:exactMatch OMIM:267480 respiratory underresponsiveness to hypoxia and hypercapnia semapv:UnspecifiedMatching MONDO:0009972 respiratory underresponsiveness to hypoxia and hypercapnia skos:exactMatch mesh:C564848 semapv:UnspecifiedMatching MONDO:0009973 reticular dysgenesis skos:exactMatch DOID:0060020 reticular dysgenesis semapv:UnspecifiedMatching MONDO:0009973 reticular dysgenesis skos:exactMatch NCIT:C27070 Reticular Dysgenesis semapv:UnspecifiedMatching MONDO:0009973 reticular dysgenesis skos:exactMatch OMIM:267500 reticular dysgenesis semapv:UnspecifiedMatching MONDO:0009973 reticular dysgenesis skos:exactMatch Orphanet:33355 Reticular dysgenesis semapv:UnspecifiedMatching MONDO:0009973 reticular dysgenesis skos:exactMatch SCTID:111584000 semapv:UnspecifiedMatching MONDO:0009973 reticular dysgenesis skos:exactMatch UMLS:C0272167 semapv:UnspecifiedMatching MONDO:0009973 reticular dysgenesis skos:exactMatch mesh:C538361 semapv:UnspecifiedMatching MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:exactMatch DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 semapv:UnspecifiedMatching MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:exactMatch NCIT:C61276 Familial Hemophagocytic Lymphohistiocytosis semapv:UnspecifiedMatching MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:exactMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:UnspecifiedMatching MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:exactMatch UMLS:C4551514 semapv:UnspecifiedMatching MONDO:0009975 reticulum cell sarcoma skos:exactMatch DOID:8538 reticulosarcoma semapv:UnspecifiedMatching MONDO:0009975 reticulum cell sarcoma skos:exactMatch NCIT:C27824 Reticulosarcoma semapv:UnspecifiedMatching MONDO:0009975 reticulum cell sarcoma skos:exactMatch OMIM:267730 reticulum cell sarcoma semapv:UnspecifiedMatching MONDO:0009975 reticulum cell sarcoma skos:exactMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:UnspecifiedMatching MONDO:0009975 reticulum cell sarcoma skos:exactMatch SCTID:373168002 semapv:UnspecifiedMatching MONDO:0009976 retinal degeneration and epilepsy skos:exactMatch OMIM:267740 retinal degeneration and epilepsy semapv:UnspecifiedMatching MONDO:0009976 retinal degeneration and epilepsy skos:exactMatch UMLS:C1849416 semapv:UnspecifiedMatching MONDO:0009976 retinal degeneration and epilepsy skos:exactMatch mesh:C564847 semapv:UnspecifiedMatching MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:exactMatch OMIM:267760 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma semapv:UnspecifiedMatching MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:exactMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:UnspecifiedMatching MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:exactMatch SCTID:723503006 semapv:UnspecifiedMatching MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:exactMatch UMLS:C2931831 semapv:UnspecifiedMatching MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:exactMatch mesh:C538364 semapv:UnspecifiedMatching MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:exactMatch OMIM:179840 reticular dystrophy of retinal pigment epithelium semapv:UnspecifiedMatching MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:exactMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:UnspecifiedMatching MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:exactMatch SCTID:723502001 semapv:UnspecifiedMatching MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:exactMatch UMLS:C1849407 semapv:UnspecifiedMatching MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:exactMatch mesh:C566721 semapv:UnspecifiedMatching MONDO:0009980 retinal telangiectasia and hypogammaglobulinemia skos:exactMatch OMIM:267900 retinal telangiectasia and hypogammaglobulinemia semapv:UnspecifiedMatching MONDO:0009980 retinal telangiectasia and hypogammaglobulinemia skos:exactMatch UMLS:C2930961 semapv:UnspecifiedMatching MONDO:0009980 retinal telangiectasia and hypogammaglobulinemia skos:exactMatch mesh:C535638 semapv:UnspecifiedMatching MONDO:0009982 retinitis pigmentosa inversa with deafness skos:exactMatch OMIM:268010 retinitis pigmentosa inversa with deafness semapv:UnspecifiedMatching MONDO:0009982 retinitis pigmentosa inversa with deafness skos:exactMatch UMLS:C1849405 semapv:UnspecifiedMatching MONDO:0009982 retinitis pigmentosa inversa with deafness skos:exactMatch mesh:C564842 semapv:UnspecifiedMatching MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:exactMatch OMIM:268020 retinitis pigmentosa, deafness, mental retardation, and hypogonadism semapv:UnspecifiedMatching MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:exactMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:exactMatch UMLS:C1849401 semapv:UnspecifiedMatching MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:exactMatch mesh:C564841 semapv:UnspecifiedMatching MONDO:0009984 late-adult onset retinitis pigmentosa skos:exactMatch DOID:0110421 late-adult onset retinitis pigmentosa semapv:UnspecifiedMatching MONDO:0009984 late-adult onset retinitis pigmentosa skos:exactMatch OMIM:268025 retinitis pigmentosa, late-adult onset semapv:UnspecifiedMatching MONDO:0009984 late-adult onset retinitis pigmentosa skos:exactMatch UMLS:C1849400 semapv:UnspecifiedMatching MONDO:0009984 late-adult onset retinitis pigmentosa skos:exactMatch mesh:C564840 semapv:UnspecifiedMatching MONDO:0009985 retinohepatoendocrinologic syndrome skos:exactMatch OMIM:268040 retinohepatoendocrinologic syndrome semapv:UnspecifiedMatching MONDO:0009985 retinohepatoendocrinologic syndrome skos:exactMatch SCTID:724000006 semapv:UnspecifiedMatching MONDO:0009985 retinohepatoendocrinologic syndrome skos:exactMatch UMLS:C1849399 semapv:UnspecifiedMatching MONDO:0009985 retinohepatoendocrinologic syndrome skos:exactMatch mesh:C564839 semapv:UnspecifiedMatching MONDO:0009986 retinopathy, pigmentary, and intellectual disability skos:exactMatch OMIM:268050 mirhosseini-holmes-walton syndrome semapv:UnspecifiedMatching MONDO:0009986 retinopathy, pigmentary, and intellectual disability skos:exactMatch mesh:C538367 semapv:UnspecifiedMatching MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:exactMatch DOID:0110422 autosomal recessive pericentral pigmentary retinopathy semapv:UnspecifiedMatching MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:exactMatch OMIM:268060 retinopathy, pericentral pigmentary, autosomal recessive semapv:UnspecifiedMatching MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:exactMatch UMLS:C1849398 semapv:UnspecifiedMatching MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:exactMatch mesh:C564838 semapv:UnspecifiedMatching MONDO:0009988 retinoschisis of fovea skos:exactMatch OMIM:268080 retinoschisis of fovea semapv:UnspecifiedMatching MONDO:0009988 retinoschisis of fovea skos:exactMatch UMLS:C1849397 semapv:UnspecifiedMatching MONDO:0009988 retinoschisis of fovea skos:exactMatch mesh:C538369 semapv:UnspecifiedMatching MONDO:0009990 Revesz syndrome skos:exactMatch DOID:0070026 Revesz syndrome semapv:UnspecifiedMatching MONDO:0009990 Revesz syndrome skos:exactMatch NCIT:C152064 Revesz Syndrome semapv:UnspecifiedMatching MONDO:0009990 Revesz syndrome skos:exactMatch OMIM:268130 revesz syndrome semapv:UnspecifiedMatching MONDO:0009990 Revesz syndrome skos:exactMatch Orphanet:3088 Revesz syndrome semapv:UnspecifiedMatching MONDO:0009990 Revesz syndrome skos:exactMatch SCTID:723512008 semapv:UnspecifiedMatching MONDO:0009990 Revesz syndrome skos:exactMatch UMLS:C1327916 semapv:UnspecifiedMatching MONDO:0009990 Revesz syndrome skos:exactMatch mesh:C538371 semapv:UnspecifiedMatching MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:exactMatch OMIM:268200 myoglobinuria, acute recurrent, autosomal recessive semapv:UnspecifiedMatching MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:exactMatch UMLS:C1849386 semapv:UnspecifiedMatching MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:exactMatch mesh:C564832 semapv:UnspecifiedMatching MONDO:0009993 embryonal rhabdomyosarcoma skos:exactMatch DOID:3246 embryonal rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0009993 embryonal rhabdomyosarcoma skos:exactMatch NCIT:C8971 Embryonal Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0009993 embryonal rhabdomyosarcoma skos:exactMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:UnspecifiedMatching MONDO:0009993 embryonal rhabdomyosarcoma skos:exactMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0009993 embryonal rhabdomyosarcoma skos:exactMatch SCTID:404051002 semapv:UnspecifiedMatching MONDO:0009993 embryonal rhabdomyosarcoma skos:exactMatch UMLS:C0206656 semapv:UnspecifiedMatching MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch DOID:4051 alveolar rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch NCIT:C3749 Alveolar Rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch OMIM:268220 rhabdomyosarcoma 2 semapv:UnspecifiedMatching MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:UnspecifiedMatching MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch SCTID:404053004 semapv:UnspecifiedMatching MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch UMLS:C0206655 semapv:UnspecifiedMatching MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch mesh:D018232 semapv:UnspecifiedMatching MONDO:0009995 obsolete rheumatic fever-related antigen skos:exactMatch OMIM:268240 rheumatic fever-related antigen semapv:UnspecifiedMatching MONDO:0009996 rhizomelic syndrome, Urbach type skos:exactMatch OMIM:268250 rhizomelic syndrome semapv:UnspecifiedMatching MONDO:0009996 rhizomelic syndrome, Urbach type skos:exactMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:UnspecifiedMatching MONDO:0009996 rhizomelic syndrome, Urbach type skos:exactMatch UMLS:C1849382 semapv:UnspecifiedMatching MONDO:0009996 rhizomelic syndrome, Urbach type skos:exactMatch mesh:C537611 semapv:UnspecifiedMatching MONDO:0009998 Richieri Costa-Pereira syndrome skos:exactMatch OMIM:268305 robin sequence with cleft mandible and limb anomalies semapv:UnspecifiedMatching MONDO:0009998 Richieri Costa-Pereira syndrome skos:exactMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:UnspecifiedMatching MONDO:0009998 Richieri Costa-Pereira syndrome skos:exactMatch SCTID:723998001 semapv:UnspecifiedMatching MONDO:0009998 Richieri Costa-Pereira syndrome skos:exactMatch UMLS:C1849348 semapv:UnspecifiedMatching MONDO:0009998 Richieri Costa-Pereira syndrome skos:exactMatch mesh:C535677 semapv:UnspecifiedMatching MONDO:0009999 autosomal recessive Robinow syndrome skos:exactMatch DOID:0060764 autosomal recessive Robinow syndrome semapv:UnspecifiedMatching MONDO:0009999 autosomal recessive Robinow syndrome skos:exactMatch OMIM:268310 robinow syndrome, autosomal recessive 1 semapv:UnspecifiedMatching MONDO:0009999 autosomal recessive Robinow syndrome skos:exactMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:UnspecifiedMatching MONDO:0009999 autosomal recessive Robinow syndrome skos:exactMatch UMLS:C5399974 semapv:UnspecifiedMatching MONDO:0009999 autosomal recessive Robinow syndrome skos:exactMatch mesh:C535863 semapv:UnspecifiedMatching MONDO:0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction skos:exactMatch OMIM:268315 rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction semapv:UnspecifiedMatching MONDO:0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction skos:exactMatch UMLS:C1849333 semapv:UnspecifiedMatching MONDO:0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction skos:exactMatch mesh:C564829 semapv:UnspecifiedMatching MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:exactMatch OMIM:268320 rodrigues blindness semapv:UnspecifiedMatching MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:exactMatch Orphanet:1806 Ectodermal dysplasia-blindness syndrome semapv:UnspecifiedMatching MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:exactMatch UMLS:C1849332 semapv:UnspecifiedMatching MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:exactMatch mesh:C535865 semapv:UnspecifiedMatching MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch DOID:2732 Rothmund-Thomson syndrome semapv:UnspecifiedMatching MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch NCIT:C3335 Rothmund-Thomson Syndrome semapv:UnspecifiedMatching MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch OMIMPS:268400 semapv:UnspecifiedMatching MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:UnspecifiedMatching MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch SCTID:69093006 semapv:UnspecifiedMatching MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch UMLS:C0032339 semapv:UnspecifiedMatching MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch mesh:D011038 semapv:UnspecifiedMatching MONDO:0010003 Rowley-Rosenberg syndrome skos:exactMatch OMIM:268500 rowley-rosenberg syndrome semapv:UnspecifiedMatching MONDO:0010003 Rowley-Rosenberg syndrome skos:exactMatch SCTID:53783003 semapv:UnspecifiedMatching MONDO:0010003 Rowley-Rosenberg syndrome skos:exactMatch UMLS:C0268426 semapv:UnspecifiedMatching MONDO:0010003 Rowley-Rosenberg syndrome skos:exactMatch mesh:C535874 semapv:UnspecifiedMatching MONDO:0010004 EEC syndrome skos:exactMatch DOID:0060782 EEC syndrome semapv:UnspecifiedMatching MONDO:0010004 EEC syndrome skos:exactMatch NCIT:C148261 Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome semapv:UnspecifiedMatching MONDO:0010004 EEC syndrome skos:exactMatch OMIM:268650 rudiger syndrome semapv:UnspecifiedMatching MONDO:0010004 EEC syndrome skos:exactMatch Orphanet:1896 EEC syndrome semapv:UnspecifiedMatching MONDO:0010004 EEC syndrome skos:exactMatch SCTID:39788007 semapv:UnspecifiedMatching MONDO:0010004 EEC syndrome skos:exactMatch UMLS:C0406704 semapv:UnspecifiedMatching MONDO:0010004 EEC syndrome skos:exactMatch mesh:C536189 semapv:UnspecifiedMatching MONDO:0010005 saccharopinuria skos:exactMatch OMIM:268700 saccharopinuria semapv:UnspecifiedMatching MONDO:0010005 saccharopinuria skos:exactMatch Orphanet:3124 Saccharopinuria semapv:UnspecifiedMatching MONDO:0010005 saccharopinuria skos:exactMatch SCTID:111397004 semapv:UnspecifiedMatching MONDO:0010005 saccharopinuria skos:exactMatch UMLS:C0268556 semapv:UnspecifiedMatching MONDO:0010005 saccharopinuria skos:exactMatch mesh:C537218 semapv:UnspecifiedMatching MONDO:0010006 Sandhoff disease skos:exactMatch DOID:3323 Sandhoff disease semapv:UnspecifiedMatching MONDO:0010006 Sandhoff disease skos:exactMatch ICD10CM:E75.01 Sandhoff disease semapv:UnspecifiedMatching MONDO:0010006 Sandhoff disease skos:exactMatch NCIT:C85052 Sandhoff Disease semapv:UnspecifiedMatching MONDO:0010006 Sandhoff disease skos:exactMatch OMIM:268800 sandhoff disease semapv:UnspecifiedMatching MONDO:0010006 Sandhoff disease skos:exactMatch Orphanet:796 Sandhoff disease semapv:UnspecifiedMatching MONDO:0010006 Sandhoff disease skos:exactMatch SCTID:23849003 semapv:UnspecifiedMatching MONDO:0010006 Sandhoff disease skos:exactMatch UMLS:C0036161 semapv:UnspecifiedMatching MONDO:0010006 Sandhoff disease skos:exactMatch mesh:D012497 semapv:UnspecifiedMatching MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:exactMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:UnspecifiedMatching MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:exactMatch Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome semapv:UnspecifiedMatching MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:exactMatch UMLS:C0796142 semapv:UnspecifiedMatching MONDO:0010008 sarcosinemia skos:exactMatch DOID:0112307 sarcosinemia semapv:UnspecifiedMatching MONDO:0010008 sarcosinemia skos:exactMatch OMIM:268900 sarcosinemia semapv:UnspecifiedMatching MONDO:0010008 sarcosinemia skos:exactMatch Orphanet:3129 Sarcosinemia semapv:UnspecifiedMatching MONDO:0010008 sarcosinemia skos:exactMatch SCTID:64852002 semapv:UnspecifiedMatching MONDO:0010008 sarcosinemia skos:exactMatch UMLS:C0268563 semapv:UnspecifiedMatching MONDO:0010008 sarcosinemia skos:exactMatch mesh:C537236 semapv:UnspecifiedMatching MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch NCIT:C129308 Schinzel-Giedion Midface-Retraction Syndrome semapv:UnspecifiedMatching MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch OMIM:269150 schinzel-giedion midface retraction syndrome semapv:UnspecifiedMatching MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch Orphanet:798 Schinzel-Giedion syndrome semapv:UnspecifiedMatching MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch SCTID:18899000 semapv:UnspecifiedMatching MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch UMLS:C0265227 semapv:UnspecifiedMatching MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch mesh:C536632 semapv:UnspecifiedMatching MONDO:0010011 schizencephaly skos:exactMatch NCIT:C99056 Schizencephaly semapv:UnspecifiedMatching MONDO:0010011 schizencephaly skos:exactMatch OMIM:269160 schizencephaly semapv:UnspecifiedMatching MONDO:0010011 schizencephaly skos:exactMatch Orphanet:799 Schizencephaly semapv:UnspecifiedMatching MONDO:0010011 schizencephaly skos:exactMatch SCTID:253159001 semapv:UnspecifiedMatching MONDO:0010011 schizencephaly skos:exactMatch mesh:D065707 semapv:UnspecifiedMatching MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:exactMatch DOID:0050168 autoimmune polyendocrine syndrome type 2 semapv:UnspecifiedMatching MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:exactMatch NCIT:C129728 Autoimmune Polyglandular Syndrome Type 2 semapv:UnspecifiedMatching MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:exactMatch OMIM:269200 autoimmune polyendocrine syndrome, iia 2 semapv:UnspecifiedMatching MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:exactMatch Orphanet:3143 Autoimmune polyendocrinopathy type 2 semapv:UnspecifiedMatching MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:exactMatch SCTID:83728000 semapv:UnspecifiedMatching MONDO:0010013 schneckenbecken dysplasia skos:exactMatch DOID:0050775 schneckenbecken dysplasia semapv:UnspecifiedMatching MONDO:0010013 schneckenbecken dysplasia skos:exactMatch OMIM:269250 schneckenbecken dysplasia semapv:UnspecifiedMatching MONDO:0010013 schneckenbecken dysplasia skos:exactMatch Orphanet:3144 Schneckenbecken dysplasia semapv:UnspecifiedMatching MONDO:0010013 schneckenbecken dysplasia skos:exactMatch SCTID:254049009 semapv:UnspecifiedMatching MONDO:0010013 schneckenbecken dysplasia skos:exactMatch UMLS:C0432194 semapv:UnspecifiedMatching MONDO:0010013 schneckenbecken dysplasia skos:exactMatch mesh:C536637 semapv:UnspecifiedMatching MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:exactMatch OMIM:269300 craniometadiaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:exactMatch Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type semapv:UnspecifiedMatching MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:exactMatch SCTID:278833002 semapv:UnspecifiedMatching MONDO:0010015 anterior segment dysgenesis 7 skos:exactMatch DOID:0080612 anterior segment dysgenesis 7 semapv:UnspecifiedMatching MONDO:0010015 anterior segment dysgenesis 7 skos:exactMatch OMIM:269400 anterior segment dysgenesis 7 semapv:UnspecifiedMatching MONDO:0010015 anterior segment dysgenesis 7 skos:exactMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:UnspecifiedMatching MONDO:0010015 anterior segment dysgenesis 7 skos:exactMatch UMLS:C3151617 semapv:UnspecifiedMatching MONDO:0010016 sclerosteosis 1 skos:exactMatch DOID:0060756 sclerosteosis 1 semapv:UnspecifiedMatching MONDO:0010016 sclerosteosis 1 skos:exactMatch OMIM:269500 sclerosteosis 1 semapv:UnspecifiedMatching MONDO:0010016 sclerosteosis 1 skos:exactMatch UMLS:C4551483 semapv:UnspecifiedMatching MONDO:0010017 sea-blue histiocyte syndrome skos:exactMatch DOID:4423 sea-blue histiocytosis semapv:UnspecifiedMatching MONDO:0010017 sea-blue histiocyte syndrome skos:exactMatch NCIT:C85062 Sea-Blue Histiocyte Syndrome semapv:UnspecifiedMatching MONDO:0010017 sea-blue histiocyte syndrome skos:exactMatch OMIM:269600 sea-blue histiocyte disease semapv:UnspecifiedMatching MONDO:0010017 sea-blue histiocyte syndrome skos:exactMatch Orphanet:158029 Sea-blue histiocytosis semapv:UnspecifiedMatching MONDO:0010017 sea-blue histiocyte syndrome skos:exactMatch SCTID:37821003 semapv:UnspecifiedMatching MONDO:0010017 sea-blue histiocyte syndrome skos:exactMatch UMLS:C0036489 semapv:UnspecifiedMatching MONDO:0010017 sea-blue histiocyte syndrome skos:exactMatch mesh:D012618 semapv:UnspecifiedMatching MONDO:0010018 second metatarsal-metacarpal syndrome skos:exactMatch OMIM:269630 second metatarsal-metacarpal syndrome semapv:UnspecifiedMatching MONDO:0010018 second metatarsal-metacarpal syndrome skos:exactMatch UMLS:C1849259 semapv:UnspecifiedMatching MONDO:0010018 second metatarsal-metacarpal syndrome skos:exactMatch mesh:C564824 semapv:UnspecifiedMatching MONDO:0010019 secretory component deficiency skos:exactMatch OMIM:269650 secretory component deficiency semapv:UnspecifiedMatching MONDO:0010019 secretory component deficiency skos:exactMatch SCTID:234554004 semapv:UnspecifiedMatching MONDO:0010019 secretory component deficiency skos:exactMatch UMLS:C0398709 semapv:UnspecifiedMatching MONDO:0010019 secretory component deficiency skos:exactMatch mesh:C562869 semapv:UnspecifiedMatching MONDO:0010020 congenital generalized lipodystrophy type 2 skos:exactMatch DOID:0111136 congenital generalized lipodystrophy type 2 semapv:UnspecifiedMatching MONDO:0010020 congenital generalized lipodystrophy type 2 skos:exactMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:UnspecifiedMatching MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:exactMatch OMIM:269720 seizures, benign familial neonatal, autosomal recessive semapv:UnspecifiedMatching MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:exactMatch UMLS:C1849250 semapv:UnspecifiedMatching MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:exactMatch mesh:C564823 semapv:UnspecifiedMatching MONDO:0010022 senile plaque formation skos:exactMatch OMIM:269800 senile plaque formation semapv:UnspecifiedMatching MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch DOID:0111943 immunodeficiency 48 semapv:UnspecifiedMatching MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch OMIM:269840 immunodeficiency 48 semapv:UnspecifiedMatching MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency semapv:UnspecifiedMatching MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch SCTID:716378008 semapv:UnspecifiedMatching MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch mesh:C536722 semapv:UnspecifiedMatching MONDO:0010024 Beemer-Langer syndrome skos:exactMatch DOID:9249 Beemer-Langer syndrome semapv:UnspecifiedMatching MONDO:0010024 Beemer-Langer syndrome skos:exactMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:UnspecifiedMatching MONDO:0010024 Beemer-Langer syndrome skos:exactMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:UnspecifiedMatching MONDO:0010024 Beemer-Langer syndrome skos:exactMatch SCTID:254052001 semapv:UnspecifiedMatching MONDO:0010024 Beemer-Langer syndrome skos:exactMatch UMLS:C0432198 semapv:UnspecifiedMatching MONDO:0010024 Beemer-Langer syndrome skos:exactMatch mesh:C537599 semapv:UnspecifiedMatching MONDO:0010025 short stature-obesity syndrome skos:exactMatch OMIM:269870 short stature-obesity syndrome semapv:UnspecifiedMatching MONDO:0010025 short stature-obesity syndrome skos:exactMatch UMLS:C1849235 semapv:UnspecifiedMatching MONDO:0010025 short stature-obesity syndrome skos:exactMatch mesh:C564821 semapv:UnspecifiedMatching MONDO:0010026 SHORT syndrome skos:exactMatch DOID:0111454 SHORT syndrome semapv:UnspecifiedMatching MONDO:0010026 SHORT syndrome skos:exactMatch OMIM:269880 short syndrome semapv:UnspecifiedMatching MONDO:0010026 SHORT syndrome skos:exactMatch Orphanet:3163 SHORT syndrome semapv:UnspecifiedMatching MONDO:0010026 SHORT syndrome skos:exactMatch UMLS:C0878684 semapv:UnspecifiedMatching MONDO:0010026 SHORT syndrome skos:exactMatch mesh:C537327 semapv:UnspecifiedMatching MONDO:0010027 free sialic acid storage disease, infantile form skos:exactMatch OMIM:269920 infantile sialic acid storage disease semapv:UnspecifiedMatching MONDO:0010027 free sialic acid storage disease, infantile form skos:exactMatch Orphanet:309324 Free sialic acid storage disease, infantile form semapv:UnspecifiedMatching MONDO:0010027 free sialic acid storage disease, infantile form skos:exactMatch SCTID:34566007 semapv:UnspecifiedMatching MONDO:0010028 sialuria skos:exactMatch DOID:3659 sialuria semapv:UnspecifiedMatching MONDO:0010028 sialuria skos:exactMatch OMIM:269921 sialuria semapv:UnspecifiedMatching MONDO:0010028 sialuria skos:exactMatch Orphanet:3166 Sialuria semapv:UnspecifiedMatching MONDO:0010028 sialuria skos:exactMatch SCTID:238051008 semapv:UnspecifiedMatching MONDO:0010029 situs inversus skos:exactMatch DOID:758 situs inversus semapv:UnspecifiedMatching MONDO:0010029 situs inversus skos:exactMatch ICD10CM:Q89.3 Situs inversus semapv:UnspecifiedMatching MONDO:0010029 situs inversus skos:exactMatch NCIT:C87121 Situs Inversus semapv:UnspecifiedMatching MONDO:0010029 situs inversus skos:exactMatch Orphanet:101063 Situs inversus totalis semapv:UnspecifiedMatching MONDO:0010029 situs inversus skos:exactMatch SCTID:24614000 semapv:UnspecifiedMatching MONDO:0010029 situs inversus skos:exactMatch mesh:D012857 semapv:UnspecifiedMatching MONDO:0010030 Sjogren syndrome skos:exactMatch DOID:12894 Sjogren's syndrome semapv:UnspecifiedMatching MONDO:0010030 Sjogren syndrome skos:exactMatch NCIT:C26883 Sjogren Syndrome semapv:UnspecifiedMatching MONDO:0010030 Sjogren syndrome skos:exactMatch OMIM:270150 sjogren syndrome semapv:UnspecifiedMatching MONDO:0010030 Sjogren syndrome skos:exactMatch Orphanet:289390 Primary Sjögren syndrome semapv:UnspecifiedMatching MONDO:0010030 Sjogren syndrome skos:exactMatch SCTID:83901003 semapv:UnspecifiedMatching MONDO:0010030 Sjogren syndrome skos:exactMatch mesh:D012859 semapv:UnspecifiedMatching MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch DOID:14501 Sjogren-Larsson syndrome semapv:UnspecifiedMatching MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch NCIT:C85070 Sjogren-Larsson Syndrome semapv:UnspecifiedMatching MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch OMIM:270200 sjogren-larsson syndrome semapv:UnspecifiedMatching MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch Orphanet:816 Sjögren-Larsson syndrome semapv:UnspecifiedMatching MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch SCTID:111303009 semapv:UnspecifiedMatching MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch UMLS:C0037231 semapv:UnspecifiedMatching MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch mesh:D016111 semapv:UnspecifiedMatching MONDO:0010032 Sjogren-Larsson-like ichthyosis without CNS or eye involvement skos:exactMatch OMIM:270220 sjogren-larsson-like ichthyosis without cns or eye involvement semapv:UnspecifiedMatching MONDO:0010032 Sjogren-Larsson-like ichthyosis without CNS or eye involvement skos:exactMatch UMLS:C1849195 semapv:UnspecifiedMatching MONDO:0010032 Sjogren-Larsson-like ichthyosis without CNS or eye involvement skos:exactMatch mesh:C536668 semapv:UnspecifiedMatching MONDO:0010033 generalized peeling skin syndrome skos:exactMatch Orphanet:263543 Generalized peeling skin syndrome semapv:UnspecifiedMatching MONDO:0010033 generalized peeling skin syndrome skos:exactMatch SCTID:718749004 semapv:UnspecifiedMatching MONDO:0010033 generalized peeling skin syndrome skos:exactMatch UMLS:C4305156 semapv:UnspecifiedMatching MONDO:0010034 obsolete anosmia for butyl mercaptan skos:exactMatch OMIM:270350 anosmia for butyl mercaptan semapv:UnspecifiedMatching MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch DOID:14692 Smith-Lemli-Opitz syndrome semapv:UnspecifiedMatching MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch ICD10CM:E78.72 Smith-Lemli-Opitz syndrome semapv:UnspecifiedMatching MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch NCIT:C85071 Smith-Lemli-Opitz Syndrome semapv:UnspecifiedMatching MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch OMIM:270400 smith-lemli-opitz syndrome semapv:UnspecifiedMatching MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:UnspecifiedMatching MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch SCTID:43929004 semapv:UnspecifiedMatching MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch UMLS:C0175694 semapv:UnspecifiedMatching MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch mesh:D019082 semapv:UnspecifiedMatching MONDO:0010036 congenital secretory sodium diarrhea 3 skos:exactMatch DOID:0060781 congenital secretory sodium diarrhea 3 semapv:UnspecifiedMatching MONDO:0010036 congenital secretory sodium diarrhea 3 skos:exactMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:UnspecifiedMatching MONDO:0010037 sodium-potassium-ATPase activity of red cell skos:exactMatch OMIM:270425 sodium-potassium-atpase activity of red cell semapv:UnspecifiedMatching MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:exactMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:UnspecifiedMatching MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:exactMatch Orphanet:73273 Growth delay due to insulin-like growth factor I resistance semapv:UnspecifiedMatching MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:exactMatch SCTID:715625007 semapv:UnspecifiedMatching MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:exactMatch UMLS:C1849157 semapv:UnspecifiedMatching MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:exactMatch mesh:C564816 semapv:UnspecifiedMatching MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:exactMatch OMIM:270460 sonoda syndrome semapv:UnspecifiedMatching MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:exactMatch Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:exactMatch SCTID:715987000 semapv:UnspecifiedMatching MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:exactMatch UMLS:C0796162 semapv:UnspecifiedMatching MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:exactMatch mesh:C536680 semapv:UnspecifiedMatching MONDO:0010040 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability skos:exactMatch OMIM:270500 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation semapv:UnspecifiedMatching MONDO:0010040 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability skos:exactMatch UMLS:C3151619 semapv:UnspecifiedMatching MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:exactMatch DOID:0050946 Charlevoix-Saguenay spastic ataxia semapv:UnspecifiedMatching MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:exactMatch OMIM:270550 spastic ataxia, charlevoix-saguenay iia semapv:UnspecifiedMatching MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:exactMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:UnspecifiedMatching MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:exactMatch SCTID:702445005 semapv:UnspecifiedMatching MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:exactMatch UMLS:C1849140 semapv:UnspecifiedMatching MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:exactMatch mesh:C536787 semapv:UnspecifiedMatching MONDO:0010042 spastic diplegia and intellectual disability skos:exactMatch OMIM:270600 spastic diplegia and impaired intellectual development semapv:UnspecifiedMatching MONDO:0010042 spastic diplegia and intellectual disability skos:exactMatch UMLS:C1849139 semapv:UnspecifiedMatching MONDO:0010042 spastic diplegia and intellectual disability skos:exactMatch mesh:C537481 semapv:UnspecifiedMatching MONDO:0010043 hereditary spastic paraplegia 17 skos:exactMatch DOID:0110770 hereditary spastic paraplegia 17 semapv:UnspecifiedMatching MONDO:0010043 hereditary spastic paraplegia 17 skos:exactMatch OMIM:270685 spastic paraplegia 17, autosomal dominant semapv:UnspecifiedMatching MONDO:0010043 hereditary spastic paraplegia 17 skos:exactMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:UnspecifiedMatching MONDO:0010043 hereditary spastic paraplegia 17 skos:exactMatch UMLS:C2931276 semapv:UnspecifiedMatching MONDO:0010043 hereditary spastic paraplegia 17 skos:exactMatch mesh:C536644 semapv:UnspecifiedMatching MONDO:0010044 hereditary spastic paraplegia 15 skos:exactMatch DOID:0110768 hereditary spastic paraplegia 15 semapv:UnspecifiedMatching MONDO:0010044 hereditary spastic paraplegia 15 skos:exactMatch OMIM:270700 spastic paraplegia 15, autosomal recessive semapv:UnspecifiedMatching MONDO:0010044 hereditary spastic paraplegia 15 skos:exactMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:UnspecifiedMatching MONDO:0010044 hereditary spastic paraplegia 15 skos:exactMatch SCTID:709417000 semapv:UnspecifiedMatching MONDO:0010044 hereditary spastic paraplegia 15 skos:exactMatch UMLS:C1849128 semapv:UnspecifiedMatching MONDO:0010044 hereditary spastic paraplegia 15 skos:exactMatch mesh:C536642 semapv:UnspecifiedMatching MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome skos:exactMatch OMIM:270710 semapv:UnspecifiedMatching MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome skos:exactMatch Orphanet:2823 OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome semapv:UnspecifiedMatching MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome skos:exactMatch UMLS:C0795942 semapv:UnspecifiedMatching MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome skos:exactMatch mesh:C537938 semapv:UnspecifiedMatching MONDO:0010046 hereditary spastic paraplegia 23 skos:exactMatch DOID:0110774 hereditary spastic paraplegia 23 semapv:UnspecifiedMatching MONDO:0010046 hereditary spastic paraplegia 23 skos:exactMatch OMIM:270750 spastic paraplegia 23, autosomal recessive semapv:UnspecifiedMatching MONDO:0010046 hereditary spastic paraplegia 23 skos:exactMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:UnspecifiedMatching MONDO:0010046 hereditary spastic paraplegia 23 skos:exactMatch SCTID:726608002 semapv:UnspecifiedMatching MONDO:0010046 hereditary spastic paraplegia 23 skos:exactMatch UMLS:C0796019 semapv:UnspecifiedMatching MONDO:0010046 hereditary spastic paraplegia 23 skos:exactMatch mesh:C536859 semapv:UnspecifiedMatching MONDO:0010047 hereditary spastic paraplegia 5A skos:exactMatch DOID:0110810 hereditary spastic paraplegia 5A semapv:UnspecifiedMatching MONDO:0010047 hereditary spastic paraplegia 5A skos:exactMatch OMIM:270800 spastic paraplegia 5a, autosomal recessive semapv:UnspecifiedMatching MONDO:0010047 hereditary spastic paraplegia 5A skos:exactMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:UnspecifiedMatching MONDO:0010047 hereditary spastic paraplegia 5A skos:exactMatch SCTID:763373005 semapv:UnspecifiedMatching MONDO:0010047 hereditary spastic paraplegia 5A skos:exactMatch UMLS:C1849115 semapv:UnspecifiedMatching MONDO:0010048 spastic paraplegia with myoclonic epilepsy skos:exactMatch OMIM:270805 spastic paraplegia with myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0010048 spastic paraplegia with myoclonic epilepsy skos:exactMatch UMLS:C1849114 semapv:UnspecifiedMatching MONDO:0010048 spastic paraplegia with myoclonic epilepsy skos:exactMatch mesh:C564810 semapv:UnspecifiedMatching MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:exactMatch OMIM:270850 spastic paresis, glaucoma, and mental retardation semapv:UnspecifiedMatching MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:exactMatch Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:exactMatch UMLS:C1849113 semapv:UnspecifiedMatching MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:exactMatch mesh:C564809 semapv:UnspecifiedMatching MONDO:0010050 obsolete spastic pseudosclerosis skos:exactMatch OMIM:270900 spastic pseudosclerosis semapv:UnspecifiedMatching MONDO:0010050 obsolete spastic pseudosclerosis skos:exactMatch UMLS:C0599464 semapv:UnspecifiedMatching MONDO:0010050 obsolete spastic pseudosclerosis skos:exactMatch mesh:C563024 semapv:UnspecifiedMatching MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:exactMatch OMIM:270950 spastic quadriplegia, retinitis pigmentosa, and mental retardation semapv:UnspecifiedMatching MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:exactMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:exactMatch UMLS:C1849112 semapv:UnspecifiedMatching MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:exactMatch mesh:C564808 semapv:UnspecifiedMatching MONDO:0010052 spermatogenic failure 4 skos:exactMatch DOID:0070176 spermatogenic failure 4 semapv:UnspecifiedMatching MONDO:0010052 spermatogenic failure 4 skos:exactMatch OMIM:270960 spermatogenic failure 4 semapv:UnspecifiedMatching MONDO:0010052 spermatogenic failure 4 skos:exactMatch mesh:C536875 semapv:UnspecifiedMatching MONDO:0010053 hereditary spherocytosis type 3 skos:exactMatch DOID:0110918 hereditary spherocytosis type 3 semapv:UnspecifiedMatching MONDO:0010053 hereditary spherocytosis type 3 skos:exactMatch OMIM:270970 spherocytosis, iia 3 semapv:UnspecifiedMatching MONDO:0010053 hereditary spherocytosis type 3 skos:exactMatch UMLS:C2678338 semapv:UnspecifiedMatching MONDO:0010053 hereditary spherocytosis type 3 skos:exactMatch mesh:C567489 semapv:UnspecifiedMatching MONDO:0010054 spinal muscular atrophy with intellectual disability skos:exactMatch OMIM:271109 spinal muscular atrophy with mental retardation semapv:UnspecifiedMatching MONDO:0010054 spinal muscular atrophy with intellectual disability skos:exactMatch UMLS:C1849109 semapv:UnspecifiedMatching MONDO:0010054 spinal muscular atrophy with intellectual disability skos:exactMatch mesh:C564807 semapv:UnspecifiedMatching MONDO:0010055 spinal muscular atrophy with microcephaly and mental subnormality skos:exactMatch OMIM:271110 spinal muscular atrophy with microcephaly and mental subnormality semapv:UnspecifiedMatching MONDO:0010055 spinal muscular atrophy with microcephaly and mental subnormality skos:exactMatch UMLS:C1849108 semapv:UnspecifiedMatching MONDO:0010055 spinal muscular atrophy with microcephaly and mental subnormality skos:exactMatch mesh:C564806 semapv:UnspecifiedMatching MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch DOID:0050529 adult spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch OMIM:271150 spinal muscular atrophy, iia 4 semapv:UnspecifiedMatching MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:UnspecifiedMatching MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch SCTID:85505000 semapv:UnspecifiedMatching MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch mesh:C563948 semapv:UnspecifiedMatching MONDO:0010057 spinal muscular atrophy, Ryukyuan type skos:exactMatch OMIM:271200 spinal muscular atrophy, ryukyuan iia semapv:UnspecifiedMatching MONDO:0010057 spinal muscular atrophy, Ryukyuan type skos:exactMatch UMLS:C1849102 semapv:UnspecifiedMatching MONDO:0010057 spinal muscular atrophy, Ryukyuan type skos:exactMatch mesh:C536881 semapv:UnspecifiedMatching MONDO:0010058 scapuloperoneal spinal muscular atrophy, autosomal recessive skos:exactMatch OMIM:271220 spinal muscular atrophy, scapuloperoneal semapv:UnspecifiedMatching MONDO:0010058 scapuloperoneal spinal muscular atrophy, autosomal recessive skos:exactMatch UMLS:CN074295 semapv:UnspecifiedMatching MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:exactMatch DOID:0080126 mitochondrial DNA depletion syndrome 7 semapv:UnspecifiedMatching MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:exactMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:UnspecifiedMatching MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:exactMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:UnspecifiedMatching MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:exactMatch SCTID:724227000 semapv:UnspecifiedMatching MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:exactMatch UMLS:C1849096 semapv:UnspecifiedMatching MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:exactMatch mesh:C535523 semapv:UnspecifiedMatching MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:exactMatch DOID:0111612 autosomal recessive spinocerebellar ataxia 3 semapv:UnspecifiedMatching MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:exactMatch OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 semapv:UnspecifiedMatching MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:exactMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:UnspecifiedMatching MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:exactMatch UMLS:C1849094 semapv:UnspecifiedMatching MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:exactMatch mesh:C537309 semapv:UnspecifiedMatching MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:exactMatch OMIM:271270 spinocerebellar ataxia with dysmorphism semapv:UnspecifiedMatching MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:exactMatch Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:exactMatch UMLS:C1849088 semapv:UnspecifiedMatching MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:exactMatch mesh:C564802 semapv:UnspecifiedMatching MONDO:0010063 corneal-cerebellar syndrome skos:exactMatch OMIM:271310 spinocerebellar degeneration and corneal dystrophy semapv:UnspecifiedMatching MONDO:0010063 corneal-cerebellar syndrome skos:exactMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:UnspecifiedMatching MONDO:0010063 corneal-cerebellar syndrome skos:exactMatch SCTID:720750004 semapv:UnspecifiedMatching MONDO:0010063 corneal-cerebellar syndrome skos:exactMatch UMLS:C1849087 semapv:UnspecifiedMatching MONDO:0010063 corneal-cerebellar syndrome skos:exactMatch mesh:C535472 semapv:UnspecifiedMatching MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:exactMatch OMIM:271320 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia semapv:UnspecifiedMatching MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:exactMatch Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome semapv:UnspecifiedMatching MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:exactMatch SCTID:715465001 semapv:UnspecifiedMatching MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:exactMatch UMLS:C1849085 semapv:UnspecifiedMatching MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:exactMatch mesh:C536989 semapv:UnspecifiedMatching MONDO:0010065 spinocerebellar degeneration with slow eye movements skos:exactMatch OMIM:271322 spinocerebellar degeneration with slow eye movements semapv:UnspecifiedMatching MONDO:0010066 familial isolated congenital asplenia skos:exactMatch OMIM:271400 asplenia, isolated congenital semapv:UnspecifiedMatching MONDO:0010066 familial isolated congenital asplenia skos:exactMatch Orphanet:101351 Familial isolated congenital asplenia semapv:UnspecifiedMatching MONDO:0010066 familial isolated congenital asplenia skos:exactMatch SCTID:726708009 semapv:UnspecifiedMatching MONDO:0010066 familial isolated congenital asplenia skos:exactMatch mesh:C563028 semapv:UnspecifiedMatching MONDO:0010067 splenoportal vascular anomalies skos:exactMatch OMIM:271500 splenoportal vascular anomalies semapv:UnspecifiedMatching MONDO:0010067 splenoportal vascular anomalies skos:exactMatch SCTID:234131004 semapv:UnspecifiedMatching MONDO:0010067 splenoportal vascular anomalies skos:exactMatch mesh:C562761 semapv:UnspecifiedMatching MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type semapv:UnspecifiedMatching MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch NCIT:C129031 Spondyloepimetaphyseal Dysplasia, Sponastrime Type semapv:UnspecifiedMatching MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia semapv:UnspecifiedMatching MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch Orphanet:93357 SPONASTRIME dysplasia semapv:UnspecifiedMatching MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch SCTID:389161008 semapv:UnspecifiedMatching MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch mesh:C535786 semapv:UnspecifiedMatching MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome skos:exactMatch OMIM:271520 spondylocostal dysostosis with anal atresia and urogenital anomalies semapv:UnspecifiedMatching MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome skos:exactMatch UMLS:C1849069 semapv:UnspecifiedMatching MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome skos:exactMatch mesh:C564799 semapv:UnspecifiedMatching MONDO:0010070 brachyolmia type 1, Hobaek type skos:exactMatch OMIM:271530 brachyolmia iia 1, hobaek iia semapv:UnspecifiedMatching MONDO:0010070 brachyolmia type 1, Hobaek type skos:exactMatch UMLS:C1849055 semapv:UnspecifiedMatching MONDO:0010070 brachyolmia type 1, Hobaek type skos:exactMatch mesh:C537099 semapv:UnspecifiedMatching MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:exactMatch DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda semapv:UnspecifiedMatching MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:exactMatch OMIM:271600 spondyloepiphyseal dysplasia tarda, autosomal recessive semapv:UnspecifiedMatching MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:exactMatch UMLS:C1849054 semapv:UnspecifiedMatching MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:exactMatch mesh:C564797 semapv:UnspecifiedMatching MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability semapv:UnspecifiedMatching MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch OMIM:271620 spondyloepiphyseal dysplasia tarda with mental retardation semapv:UnspecifiedMatching MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:UnspecifiedMatching MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch SCTID:719202006 semapv:UnspecifiedMatching MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch UMLS:C1849053 semapv:UnspecifiedMatching MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch mesh:C564796 semapv:UnspecifiedMatching MONDO:0010074 brachyolmia type 1, toledo type skos:exactMatch OMIM:271630 brachyolmia iia 1, toledo iia semapv:UnspecifiedMatching MONDO:0010074 brachyolmia type 1, toledo type skos:exactMatch UMLS:C1849048 semapv:UnspecifiedMatching MONDO:0010074 brachyolmia type 1, toledo type skos:exactMatch mesh:C535787 semapv:UnspecifiedMatching MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:exactMatch DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 semapv:UnspecifiedMatching MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:exactMatch OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, iia 1, with or without fractures semapv:UnspecifiedMatching MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:exactMatch Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type semapv:UnspecifiedMatching MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:exactMatch OMIM:271650 spondyloepimetaphyseal dysplasia, irapa iia semapv:UnspecifiedMatching MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:exactMatch Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type semapv:UnspecifiedMatching MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:exactMatch SCTID:717330004 semapv:UnspecifiedMatching MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:exactMatch UMLS:C0432213 semapv:UnspecifiedMatching MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:exactMatch mesh:C562958 semapv:UnspecifiedMatching MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:UnspecifiedMatching MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand iia semapv:UnspecifiedMatching MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:UnspecifiedMatching MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch UMLS:C1849011 semapv:UnspecifiedMatching MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch mesh:C564794 semapv:UnspecifiedMatching MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch DOID:0112195 spondyloperipheral dysplasia semapv:UnspecifiedMatching MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch NCIT:C135088 Spondyloperipheral Dysplasia semapv:UnspecifiedMatching MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch OMIM:271700 spondyloperipheral dysplasia semapv:UnspecifiedMatching MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:UnspecifiedMatching MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch SCTID:702339001 semapv:UnspecifiedMatching MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch UMLS:C0796173 semapv:UnspecifiedMatching MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch mesh:C535799 semapv:UnspecifiedMatching MONDO:0010079 Canavan disease skos:exactMatch DOID:3613 Canavan disease semapv:UnspecifiedMatching MONDO:0010079 Canavan disease skos:exactMatch NCIT:C84611 Canavan Disease semapv:UnspecifiedMatching MONDO:0010079 Canavan disease skos:exactMatch OMIM:271900 canavan disease semapv:UnspecifiedMatching MONDO:0010079 Canavan disease skos:exactMatch Orphanet:141 Canavan disease semapv:UnspecifiedMatching MONDO:0010079 Canavan disease skos:exactMatch SCTID:80544005 semapv:UnspecifiedMatching MONDO:0010079 Canavan disease skos:exactMatch UMLS:C0206307 semapv:UnspecifiedMatching MONDO:0010079 Canavan disease skos:exactMatch mesh:D017825 semapv:UnspecifiedMatching MONDO:0010080 familial infantile bilateral striatal necrosis skos:exactMatch OMIM:271930 striatonigral degeneration, infantile semapv:UnspecifiedMatching MONDO:0010080 familial infantile bilateral striatal necrosis skos:exactMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:UnspecifiedMatching MONDO:0010081 subaortic stenosis, membranous skos:exactMatch OMIM:271950 subaortic stenosis, membranous semapv:UnspecifiedMatching MONDO:0010081 subaortic stenosis, membranous skos:exactMatch mesh:C564793 semapv:UnspecifiedMatching MONDO:0010082 subaortic stenosis-short stature syndrome skos:exactMatch OMIM:271960 subaortic stenosis--short stature syndrome semapv:UnspecifiedMatching MONDO:0010082 subaortic stenosis-short stature syndrome skos:exactMatch Orphanet:3191 Subaortic stenosis-short stature syndrome semapv:UnspecifiedMatching MONDO:0010082 subaortic stenosis-short stature syndrome skos:exactMatch UMLS:C0795947 semapv:UnspecifiedMatching MONDO:0010082 subaortic stenosis-short stature syndrome skos:exactMatch mesh:C537749 semapv:UnspecifiedMatching MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch DOID:0060175 succinic semialdehyde dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch OMIM:271980 succinic semialdehyde dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch SCTID:49748000 semapv:UnspecifiedMatching MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch UMLS:C0268631 semapv:UnspecifiedMatching MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch mesh:C535803 semapv:UnspecifiedMatching MONDO:0010084 sucrosuria, hiatus hernia and intellectual disability skos:exactMatch OMIM:272000 sucrosuria, hiatus hernia, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0010084 sucrosuria, hiatus hernia and intellectual disability skos:exactMatch UMLS:C1848963 semapv:UnspecifiedMatching MONDO:0010084 sucrosuria, hiatus hernia and intellectual disability skos:exactMatch mesh:C564792 semapv:UnspecifiedMatching MONDO:0010085 Schilder disease skos:exactMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:UnspecifiedMatching MONDO:0010085 Schilder disease skos:exactMatch Orphanet:59298 Schilder disease semapv:UnspecifiedMatching MONDO:0010085 Schilder disease skos:exactMatch SCTID:49692006 semapv:UnspecifiedMatching MONDO:0010085 Schilder disease skos:exactMatch UMLS:C0007795 semapv:UnspecifiedMatching MONDO:0010086 obsolete sudden infant death syndrome skos:exactMatch DOID:9007 sudden infant death syndrome semapv:UnspecifiedMatching MONDO:0010086 obsolete sudden infant death syndrome skos:exactMatch ICD10WHO:R95 Sudden infant death syndrome semapv:UnspecifiedMatching MONDO:0010086 obsolete sudden infant death syndrome skos:exactMatch NCIT:C85173 Sudden Infant Death Syndrome semapv:UnspecifiedMatching MONDO:0010086 obsolete sudden infant death syndrome skos:exactMatch OMIM:272120 sudden infant death syndrome semapv:UnspecifiedMatching MONDO:0010086 obsolete sudden infant death syndrome skos:exactMatch SCTID:51178009 semapv:UnspecifiedMatching MONDO:0010086 obsolete sudden infant death syndrome skos:exactMatch UMLS:C0038644 semapv:UnspecifiedMatching MONDO:0010086 obsolete sudden infant death syndrome skos:exactMatch mesh:D013398 semapv:UnspecifiedMatching MONDO:0010087 Sugarman brachydactyly skos:exactMatch DOID:0110979 Sugarman brachydactyly semapv:UnspecifiedMatching MONDO:0010087 Sugarman brachydactyly skos:exactMatch OMIM:272150 sugarman brachydactyly semapv:UnspecifiedMatching MONDO:0010087 Sugarman brachydactyly skos:exactMatch Orphanet:498602 Sugarman brachydactyly semapv:UnspecifiedMatching MONDO:0010088 mucosulfatidosis skos:exactMatch DOID:0050441 mucosulfatidosis semapv:UnspecifiedMatching MONDO:0010088 mucosulfatidosis skos:exactMatch NCIT:C84908 Multiple Sulfatase Deficiency Disease semapv:UnspecifiedMatching MONDO:0010088 mucosulfatidosis skos:exactMatch OMIM:272200 multiple sulfatase deficiency semapv:UnspecifiedMatching MONDO:0010088 mucosulfatidosis skos:exactMatch Orphanet:585 Multiple sulfatase deficiency semapv:UnspecifiedMatching MONDO:0010088 mucosulfatidosis skos:exactMatch SCTID:54898003 semapv:UnspecifiedMatching MONDO:0010088 mucosulfatidosis skos:exactMatch UMLS:C0268263 semapv:UnspecifiedMatching MONDO:0010088 mucosulfatidosis skos:exactMatch mesh:D052517 semapv:UnspecifiedMatching MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch DOID:0111270 isolated sulfite oxidase deficiency semapv:UnspecifiedMatching MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch OMIM:272300 sulfite oxidase deficiency, isolated semapv:UnspecifiedMatching MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch Orphanet:99731 Isolated sulfite oxidase deficiency semapv:UnspecifiedMatching MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch SCTID:367368009 semapv:UnspecifiedMatching MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch mesh:C538141 semapv:UnspecifiedMatching MONDO:0010090 Summitt syndrome skos:exactMatch OMIM:272350 summitt syndrome semapv:UnspecifiedMatching MONDO:0010090 Summitt syndrome skos:exactMatch Orphanet:3210 Summitt syndrome semapv:UnspecifiedMatching MONDO:0010090 Summitt syndrome skos:exactMatch SCTID:733606001 semapv:UnspecifiedMatching MONDO:0010090 Summitt syndrome skos:exactMatch UMLS:C1802405 semapv:UnspecifiedMatching MONDO:0010090 Summitt syndrome skos:exactMatch mesh:C538142 semapv:UnspecifiedMatching MONDO:0010091 Cold-induced sweating syndrome 1 skos:exactMatch DOID:0080329 cold-induced sweating syndrome 1 semapv:UnspecifiedMatching MONDO:0010091 Cold-induced sweating syndrome 1 skos:exactMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:UnspecifiedMatching MONDO:0010091 Cold-induced sweating syndrome 1 skos:exactMatch Orphanet:1545 Crisponi syndrome semapv:UnspecifiedMatching MONDO:0010091 Cold-induced sweating syndrome 1 skos:exactMatch SCTID:725097006 semapv:UnspecifiedMatching MONDO:0010091 Cold-induced sweating syndrome 1 skos:exactMatch mesh:C536214 semapv:UnspecifiedMatching MONDO:0010092 Filippi syndrome skos:exactMatch DOID:0112194 Filippi syndrome semapv:UnspecifiedMatching MONDO:0010092 Filippi syndrome skos:exactMatch OMIM:272440 filippi syndrome semapv:UnspecifiedMatching MONDO:0010092 Filippi syndrome skos:exactMatch Orphanet:3255 Filippi syndrome semapv:UnspecifiedMatching MONDO:0010092 Filippi syndrome skos:exactMatch SCTID:720954000 semapv:UnspecifiedMatching MONDO:0010092 Filippi syndrome skos:exactMatch UMLS:C0795940 semapv:UnspecifiedMatching MONDO:0010092 Filippi syndrome skos:exactMatch mesh:C538152 semapv:UnspecifiedMatching MONDO:0010093 syndesmodysplasic dwarfism skos:exactMatch OMIM:272450 syndesmodysplasic dwarfism semapv:UnspecifiedMatching MONDO:0010093 syndesmodysplasic dwarfism skos:exactMatch UMLS:C2931647 semapv:UnspecifiedMatching MONDO:0010093 syndesmodysplasic dwarfism skos:exactMatch mesh:C537869 semapv:UnspecifiedMatching MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:exactMatch DOID:0090116 spondylocarpotarsal synostosis syndrome semapv:UnspecifiedMatching MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:exactMatch OMIM:272460 spondylocarpotarsal synostosis syndrome semapv:UnspecifiedMatching MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:exactMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:UnspecifiedMatching MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:exactMatch SCTID:702351004 semapv:UnspecifiedMatching MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:exactMatch UMLS:C1848934 semapv:UnspecifiedMatching MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:exactMatch mesh:C535780 semapv:UnspecifiedMatching MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:exactMatch OMIM:272600 tapetoretinal degeneration with ataxia semapv:UnspecifiedMatching MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:exactMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:UnspecifiedMatching MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:exactMatch UMLS:C1848932 semapv:UnspecifiedMatching MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:exactMatch mesh:C564788 semapv:UnspecifiedMatching MONDO:0010096 tardive dyskinesia skos:exactMatch OMIM:272620 tardive dyskinesia semapv:UnspecifiedMatching MONDO:0010096 tardive dyskinesia skos:exactMatch SCTID:102449007 semapv:UnspecifiedMatching MONDO:0010096 tardive dyskinesia skos:exactMatch UMLS:C0686347 semapv:UnspecifiedMatching MONDO:0010096 tardive dyskinesia skos:exactMatch mesh:D000071057 semapv:UnspecifiedMatching MONDO:0010097 Tatsumi factor deficiency skos:exactMatch OMIM:272650 tatsumi factor deficiency semapv:UnspecifiedMatching MONDO:0010097 Tatsumi factor deficiency skos:exactMatch UMLS:C1848931 semapv:UnspecifiedMatching MONDO:0010097 Tatsumi factor deficiency skos:exactMatch mesh:C564787 semapv:UnspecifiedMatching MONDO:0010098 taurodontism skos:exactMatch OMIM:272700 taurodontism semapv:UnspecifiedMatching MONDO:0010098 taurodontism skos:exactMatch SCTID:51744007 semapv:UnspecifiedMatching MONDO:0010098 taurodontism skos:exactMatch UMLS:C0266039 semapv:UnspecifiedMatching MONDO:0010098 taurodontism skos:exactMatch mesh:C536946 semapv:UnspecifiedMatching MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch DOID:4795 GM2 gangliosidosis, AB variant semapv:UnspecifiedMatching MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch NCIT:C133084 GM2-Gangliosidosis, AB Variant semapv:UnspecifiedMatching MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:UnspecifiedMatching MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:UnspecifiedMatching MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch SCTID:71253000 semapv:UnspecifiedMatching MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch UMLS:C0268275 semapv:UnspecifiedMatching MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch mesh:D049290 semapv:UnspecifiedMatching MONDO:0010100 Tay-Sachs disease skos:exactMatch DOID:3320 Tay-Sachs disease semapv:UnspecifiedMatching MONDO:0010100 Tay-Sachs disease skos:exactMatch ICD10CM:E75.02 Tay-Sachs disease semapv:UnspecifiedMatching MONDO:0010100 Tay-Sachs disease skos:exactMatch NCIT:C85184 Tay-Sachs Disease semapv:UnspecifiedMatching MONDO:0010100 Tay-Sachs disease skos:exactMatch OMIM:272800 tay-sachs disease semapv:UnspecifiedMatching MONDO:0010100 Tay-Sachs disease skos:exactMatch Orphanet:845 Tay-Sachs disease semapv:UnspecifiedMatching MONDO:0010100 Tay-Sachs disease skos:exactMatch SCTID:111385000 semapv:UnspecifiedMatching MONDO:0010100 Tay-Sachs disease skos:exactMatch UMLS:C0039373 semapv:UnspecifiedMatching MONDO:0010100 Tay-Sachs disease skos:exactMatch mesh:D013661 semapv:UnspecifiedMatching MONDO:0010101 Teebi-Shaltout syndrome skos:exactMatch OMIM:272950 teebi-shaltout syndrome semapv:UnspecifiedMatching MONDO:0010101 Teebi-Shaltout syndrome skos:exactMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:UnspecifiedMatching MONDO:0010101 Teebi-Shaltout syndrome skos:exactMatch UMLS:C1848912 semapv:UnspecifiedMatching MONDO:0010101 Teebi-Shaltout syndrome skos:exactMatch mesh:C536950 semapv:UnspecifiedMatching MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome skos:exactMatch OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair semapv:UnspecifiedMatching MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome skos:exactMatch UMLS:C1848909 semapv:UnspecifiedMatching MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome skos:exactMatch mesh:C536945 semapv:UnspecifiedMatching MONDO:0010103 teeth, fused skos:exactMatch OMIM:273000 teeth, fused semapv:UnspecifiedMatching MONDO:0010103 teeth, fused skos:exactMatch SCTID:1744008 semapv:UnspecifiedMatching MONDO:0010103 teeth, fused skos:exactMatch mesh:D005671 semapv:UnspecifiedMatching MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:exactMatch OMIM:273050 teeth, noneruption of, with maxillary hypoplasia and genu valgum semapv:UnspecifiedMatching MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:exactMatch Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:UnspecifiedMatching MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:exactMatch SCTID:723442008 semapv:UnspecifiedMatching MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:exactMatch UMLS:C1848903 semapv:UnspecifiedMatching MONDO:0010105 teratoma, pineal skos:exactMatch OMIM:273120 teratoma, pineal semapv:UnspecifiedMatching MONDO:0010105 teratoma, pineal skos:exactMatch UMLS:C1848902 semapv:UnspecifiedMatching MONDO:0010105 teratoma, pineal skos:exactMatch mesh:C537401 semapv:UnspecifiedMatching MONDO:0010106 testes, rudimentary skos:exactMatch OMIM:273150 testes, rudimentary semapv:UnspecifiedMatching MONDO:0010108 testicular germ cell tumor skos:exactMatch DOID:5557 testicular germ cell cancer semapv:UnspecifiedMatching MONDO:0010108 testicular germ cell tumor skos:exactMatch NCIT:C8591 Testicular Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0010108 testicular germ cell tumor skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:UnspecifiedMatching MONDO:0010108 testicular germ cell tumor skos:exactMatch Orphanet:363504 Germ cell tumor of testis semapv:UnspecifiedMatching MONDO:0010108 testicular germ cell tumor skos:exactMatch SCTID:713577007 semapv:UnspecifiedMatching MONDO:0010108 testicular germ cell tumor skos:exactMatch UMLS:C1336708 semapv:UnspecifiedMatching MONDO:0010108 testicular germ cell tumor skos:exactMatch mesh:C563236 semapv:UnspecifiedMatching MONDO:0010109 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities skos:exactMatch OMIM:273390 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities semapv:UnspecifiedMatching MONDO:0010109 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities skos:exactMatch mesh:C536496 semapv:UnspecifiedMatching MONDO:0010110 tetraamelia-multiple malformations syndrome skos:exactMatch DOID:0112191 tetraamelia syndrome semapv:UnspecifiedMatching MONDO:0010110 tetraamelia-multiple malformations syndrome skos:exactMatch OMIMPS:273395 semapv:UnspecifiedMatching MONDO:0010110 tetraamelia-multiple malformations syndrome skos:exactMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:UnspecifiedMatching MONDO:0010110 tetraamelia-multiple malformations syndrome skos:exactMatch SCTID:716249009 semapv:UnspecifiedMatching MONDO:0010110 tetraamelia-multiple malformations syndrome skos:exactMatch UMLS:C2931218 semapv:UnspecifiedMatching MONDO:0010110 tetraamelia-multiple malformations syndrome skos:exactMatch mesh:C536500 semapv:UnspecifiedMatching MONDO:0010111 odontotrichomelic syndrome skos:exactMatch OMIM:273400 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities semapv:UnspecifiedMatching MONDO:0010111 odontotrichomelic syndrome skos:exactMatch Orphanet:2723 Odontotrichomelic syndrome semapv:UnspecifiedMatching MONDO:0010111 odontotrichomelic syndrome skos:exactMatch SCTID:239028001 semapv:UnspecifiedMatching MONDO:0010111 odontotrichomelic syndrome skos:exactMatch UMLS:C2930960 semapv:UnspecifiedMatching MONDO:0010111 odontotrichomelic syndrome skos:exactMatch mesh:C535637 semapv:UnspecifiedMatching MONDO:0010112 thalamic degeneration, symmetric infantile skos:exactMatch OMIM:273490 thalamic degeneration, symmetric infantile semapv:UnspecifiedMatching MONDO:0010112 thalamic degeneration, symmetric infantile skos:exactMatch UMLS:C2931220 semapv:UnspecifiedMatching MONDO:0010112 thalamic degeneration, symmetric infantile skos:exactMatch mesh:C536504 semapv:UnspecifiedMatching MONDO:0010113 obsolete thalidomide susceptibility skos:exactMatch OMIM:273600 thalidomide susceptibility semapv:UnspecifiedMatching MONDO:0010114 thanatophoric dysplasia, Glasgow variant skos:exactMatch OMIM:273680 thanatophoric dysplasia, glasgow variant semapv:UnspecifiedMatching MONDO:0010114 thanatophoric dysplasia, Glasgow variant skos:exactMatch UMLS:C1848865 semapv:UnspecifiedMatching MONDO:0010114 thanatophoric dysplasia, Glasgow variant skos:exactMatch mesh:C536506 semapv:UnspecifiedMatching MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:exactMatch OMIM:273730 thoracic dysplasia-hydrocephalus syndrome semapv:UnspecifiedMatching MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:exactMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:UnspecifiedMatching MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:exactMatch UMLS:C1848864 semapv:UnspecifiedMatching MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:exactMatch mesh:C564774 semapv:UnspecifiedMatching MONDO:0010116 thoracomelic dysplasia skos:exactMatch OMIM:273740 thoracomelic dysplasia semapv:UnspecifiedMatching MONDO:0010116 thoracomelic dysplasia skos:exactMatch Orphanet:1803 Thoracomelic dysplasia semapv:UnspecifiedMatching MONDO:0010116 thoracomelic dysplasia skos:exactMatch UMLS:C1848863 semapv:UnspecifiedMatching MONDO:0010116 thoracomelic dysplasia skos:exactMatch mesh:C564773 semapv:UnspecifiedMatching MONDO:0010117 3M syndrome 1 skos:exactMatch OMIM:273750 three m syndrome 1 semapv:UnspecifiedMatching MONDO:0010118 inherited threoninemia skos:exactMatch OMIM:273770 threoninemia semapv:UnspecifiedMatching MONDO:0010120 thrombocytopenia 3 skos:exactMatch OMIM:273900 thrombocytopenia 3 semapv:UnspecifiedMatching MONDO:0010120 thrombocytopenia 3 skos:exactMatch UMLS:C2678311 semapv:UnspecifiedMatching MONDO:0010120 thrombocytopenia 3 skos:exactMatch mesh:C567487 semapv:UnspecifiedMatching MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch DOID:14699 thrombocytopenia-absent radius syndrome semapv:UnspecifiedMatching MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch NCIT:C99038 Radial Aplasia-Thrombocytopenia Syndrome semapv:UnspecifiedMatching MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch OMIM:274000 thrombocytopenia-absent radius syndrome semapv:UnspecifiedMatching MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:UnspecifiedMatching MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch SCTID:85589009 semapv:UnspecifiedMatching MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch UMLS:C0175703 semapv:UnspecifiedMatching MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch mesh:C536940 semapv:UnspecifiedMatching MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:exactMatch NCIT:C131657 Congenital Thrombotic Thrombocytopenic Purpura semapv:UnspecifiedMatching MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:exactMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:UnspecifiedMatching MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:exactMatch Orphanet:93583 Congenital thrombotic thrombocytopenic purpura semapv:UnspecifiedMatching MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:exactMatch SCTID:373420004 semapv:UnspecifiedMatching MONDO:0010123 obsolete absent thumb-short stature-immunodeficiency syndrome skos:exactMatch OMIM:274190 thumb agenesis, short stature, and immunodeficiency semapv:UnspecifiedMatching MONDO:0010123 obsolete absent thumb-short stature-immunodeficiency syndrome skos:exactMatch Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome semapv:UnspecifiedMatching MONDO:0010123 obsolete absent thumb-short stature-immunodeficiency syndrome skos:exactMatch UMLS:C1848818 semapv:UnspecifiedMatching MONDO:0010123 obsolete absent thumb-short stature-immunodeficiency syndrome skos:exactMatch mesh:C564770 semapv:UnspecifiedMatching MONDO:0010124 thumb, distal hyperextensibility of skos:exactMatch OMIM:274200 thumb, distal hyperextensibility of semapv:UnspecifiedMatching MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:exactMatch OMIM:274205 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness semapv:UnspecifiedMatching MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:exactMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:UnspecifiedMatching MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:exactMatch UMLS:C1848816 semapv:UnspecifiedMatching MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:exactMatch mesh:C564769 semapv:UnspecifiedMatching MONDO:0010126 thymic aplasia with fetal death skos:exactMatch OMIM:274210 thymic aplasia with fetal death semapv:UnspecifiedMatching MONDO:0010126 thymic aplasia with fetal death skos:exactMatch UMLS:C1848815 semapv:UnspecifiedMatching MONDO:0010126 thymic aplasia with fetal death skos:exactMatch mesh:C564768 semapv:UnspecifiedMatching MONDO:0010127 thymoma, familial skos:exactMatch OMIM:274230 thymoma, familial semapv:UnspecifiedMatching MONDO:0010127 thymoma, familial skos:exactMatch UMLS:C1848814 semapv:UnspecifiedMatching MONDO:0010127 thymoma, familial skos:exactMatch mesh:C564767 semapv:UnspecifiedMatching MONDO:0010128 thyrocerebrorenal syndrome skos:exactMatch OMIM:274240 thyrocerebroretinal syndrome semapv:UnspecifiedMatching MONDO:0010128 thyrocerebrorenal syndrome skos:exactMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:UnspecifiedMatching MONDO:0010128 thyrocerebrorenal syndrome skos:exactMatch SCTID:733096007 semapv:UnspecifiedMatching MONDO:0010128 thyrocerebrorenal syndrome skos:exactMatch UMLS:C1848813 semapv:UnspecifiedMatching MONDO:0010128 thyrocerebrorenal syndrome skos:exactMatch mesh:C536908 semapv:UnspecifiedMatching MONDO:0010129 thymic-renal-anal-lung dysplasia skos:exactMatch OMIM:274265 thymic-renal-anal-lung dysplasia semapv:UnspecifiedMatching MONDO:0010129 thymic-renal-anal-lung dysplasia skos:exactMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:UnspecifiedMatching MONDO:0010129 thymic-renal-anal-lung dysplasia skos:exactMatch SCTID:723555007 semapv:UnspecifiedMatching MONDO:0010129 thymic-renal-anal-lung dysplasia skos:exactMatch UMLS:C1848812 semapv:UnspecifiedMatching MONDO:0010129 thymic-renal-anal-lung dysplasia skos:exactMatch mesh:C536907 semapv:UnspecifiedMatching MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch DOID:14218 dihydropyrimidine dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch NCIT:C84672 Dihydropyrimidine Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch SCTID:77365006 semapv:UnspecifiedMatching MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch UMLS:C1959620 semapv:UnspecifiedMatching MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch mesh:D054067 semapv:UnspecifiedMatching MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:exactMatch NCIT:C85191 Thyroid Hormone Resistance Syndrome semapv:UnspecifiedMatching MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:exactMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:UnspecifiedMatching MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:exactMatch mesh:C567936 semapv:UnspecifiedMatching MONDO:0010132 familial thyroid dyshormonogenesis skos:exactMatch DOID:0112183 familial thyroid dyshormonogenesis semapv:UnspecifiedMatching MONDO:0010132 familial thyroid dyshormonogenesis skos:exactMatch NCIT:C121751 Thyroid Dyshormonogenesis semapv:UnspecifiedMatching MONDO:0010132 familial thyroid dyshormonogenesis skos:exactMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:UnspecifiedMatching MONDO:0010132 familial thyroid dyshormonogenesis skos:exactMatch SCTID:718183003 semapv:UnspecifiedMatching MONDO:0010132 familial thyroid dyshormonogenesis skos:exactMatch UMLS:C4273748 semapv:UnspecifiedMatching MONDO:0010132 familial thyroid dyshormonogenesis skos:exactMatch mesh:C564766 semapv:UnspecifiedMatching MONDO:0010133 thyroid dyshormonogenesis 2A skos:exactMatch DOID:0112186 thyroid dyshormonogenesis 2A semapv:UnspecifiedMatching MONDO:0010133 thyroid dyshormonogenesis 2A skos:exactMatch NCIT:C121750 Thyroid Peroxidase Deficiency semapv:UnspecifiedMatching MONDO:0010133 thyroid dyshormonogenesis 2A skos:exactMatch OMIM:274500 thyroid dyshormonogenesis 2a semapv:UnspecifiedMatching MONDO:0010133 thyroid dyshormonogenesis 2A skos:exactMatch SCTID:124204003 semapv:UnspecifiedMatching MONDO:0010133 thyroid dyshormonogenesis 2A skos:exactMatch UMLS:C1291299 semapv:UnspecifiedMatching MONDO:0010133 thyroid dyshormonogenesis 2A skos:exactMatch mesh:C563206 semapv:UnspecifiedMatching MONDO:0010134 Pendred syndrome skos:exactMatch DOID:0060744 Pendred Syndrome semapv:UnspecifiedMatching MONDO:0010134 Pendred syndrome skos:exactMatch NCIT:C121745 Pendred Syndrome semapv:UnspecifiedMatching MONDO:0010134 Pendred syndrome skos:exactMatch OMIM:274600 pendred syndrome semapv:UnspecifiedMatching MONDO:0010134 Pendred syndrome skos:exactMatch Orphanet:705 Pendred syndrome semapv:UnspecifiedMatching MONDO:0010134 Pendred syndrome skos:exactMatch SCTID:70348004 semapv:UnspecifiedMatching MONDO:0010134 Pendred syndrome skos:exactMatch UMLS:C0271829 semapv:UnspecifiedMatching MONDO:0010134 Pendred syndrome skos:exactMatch mesh:C536648 semapv:UnspecifiedMatching MONDO:0010135 thyroid dyshormonogenesis 3 skos:exactMatch DOID:0112187 thyroid dyshormonogenesis 3 semapv:UnspecifiedMatching MONDO:0010135 thyroid dyshormonogenesis 3 skos:exactMatch OMIM:274700 thyroid dyshormonogenesis 3 semapv:UnspecifiedMatching MONDO:0010135 thyroid dyshormonogenesis 3 skos:exactMatch SCTID:23536000 semapv:UnspecifiedMatching MONDO:0010135 thyroid dyshormonogenesis 3 skos:exactMatch UMLS:C0342194 semapv:UnspecifiedMatching MONDO:0010135 thyroid dyshormonogenesis 3 skos:exactMatch mesh:C562769 semapv:UnspecifiedMatching MONDO:0010136 thyroid dyshormonogenesis 4 skos:exactMatch DOID:0112188 thyroid dyshormonogenesis 4 semapv:UnspecifiedMatching MONDO:0010136 thyroid dyshormonogenesis 4 skos:exactMatch OMIM:274800 thyroid dyshormonogenesis 4 semapv:UnspecifiedMatching MONDO:0010136 thyroid dyshormonogenesis 4 skos:exactMatch SCTID:17885001 semapv:UnspecifiedMatching MONDO:0010136 thyroid dyshormonogenesis 4 skos:exactMatch UMLS:C0342195 semapv:UnspecifiedMatching MONDO:0010136 thyroid dyshormonogenesis 4 skos:exactMatch mesh:C562770 semapv:UnspecifiedMatching MONDO:0010137 thyroid dyshormonogenesis 5 skos:exactMatch DOID:0112184 thyroid dyshormonogenesis 5 semapv:UnspecifiedMatching MONDO:0010137 thyroid dyshormonogenesis 5 skos:exactMatch OMIM:274900 thyroid dyshormonogenesis 5 semapv:UnspecifiedMatching MONDO:0010137 thyroid dyshormonogenesis 5 skos:exactMatch SCTID:63127008 semapv:UnspecifiedMatching MONDO:0010137 thyroid dyshormonogenesis 5 skos:exactMatch UMLS:C0342196 semapv:UnspecifiedMatching MONDO:0010137 thyroid dyshormonogenesis 5 skos:exactMatch mesh:C562771 semapv:UnspecifiedMatching MONDO:0010138 thyrotoxicosis skos:exactMatch DOID:7997 thyrotoxicosis semapv:UnspecifiedMatching MONDO:0010138 thyrotoxicosis skos:exactMatch NCIT:C61469 Thyrotoxicosis semapv:UnspecifiedMatching MONDO:0010138 thyrotoxicosis skos:exactMatch SCTID:90739004 semapv:UnspecifiedMatching MONDO:0010138 thyrotoxicosis skos:exactMatch UMLS:C0040156 semapv:UnspecifiedMatching MONDO:0010138 thyrotoxicosis skos:exactMatch mesh:D013971 semapv:UnspecifiedMatching MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:exactMatch DOID:0070123 congenital nongoitrous hypothyroidism 4 semapv:UnspecifiedMatching MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:exactMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:UnspecifiedMatching MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:exactMatch Orphanet:90674 Isolated thyroid-stimulating hormone deficiency semapv:UnspecifiedMatching MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:exactMatch UMLS:C0271789 semapv:UnspecifiedMatching MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:exactMatch NCIT:C121741 Hypothalamic Hypothyroidism semapv:UnspecifiedMatching MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:exactMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:UnspecifiedMatching MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:exactMatch Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency semapv:UnspecifiedMatching MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:exactMatch SCTID:10736002 semapv:UnspecifiedMatching MONDO:0010141 tiglic acidemia skos:exactMatch OMIM:275190 tiglic acidemia semapv:UnspecifiedMatching MONDO:0010141 tiglic acidemia skos:exactMatch SCTID:444755001 semapv:UnspecifiedMatching MONDO:0010141 tiglic acidemia skos:exactMatch UMLS:C1848793 semapv:UnspecifiedMatching MONDO:0010141 tiglic acidemia skos:exactMatch mesh:C536921 semapv:UnspecifiedMatching MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:exactMatch DOID:0070126 congenital nongoitrous hypothyroidism 1 semapv:UnspecifiedMatching MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:exactMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:UnspecifiedMatching MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:exactMatch Orphanet:90673 Hypothyroidism due to TSH receptor mutations semapv:UnspecifiedMatching MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:exactMatch UMLS:C3493776 semapv:UnspecifiedMatching MONDO:0010144 tibial hemimelia skos:exactMatch OMIM:275220 tibial hemimelia semapv:UnspecifiedMatching MONDO:0010144 tibial hemimelia skos:exactMatch Orphanet:93322 Tibial hemimelia semapv:UnspecifiedMatching MONDO:0010144 tibial hemimelia skos:exactMatch SCTID:79177001 semapv:UnspecifiedMatching MONDO:0010144 tibial hemimelia skos:exactMatch mesh:C535563 semapv:UnspecifiedMatching MONDO:0010145 tibia, absence of, with congenital deafness skos:exactMatch OMIM:275230 tibia, absence of, with congenital deafness semapv:UnspecifiedMatching MONDO:0010145 tibia, absence of, with congenital deafness skos:exactMatch UMLS:C1848758 semapv:UnspecifiedMatching MONDO:0010145 tibia, absence of, with congenital deafness skos:exactMatch mesh:C564764 semapv:UnspecifiedMatching MONDO:0010146 Kerion celsi skos:exactMatch OMIM:275240 tinea imbricata, susceptibility to semapv:UnspecifiedMatching MONDO:0010146 Kerion celsi skos:exactMatch Orphanet:499 Kerion celsi semapv:UnspecifiedMatching MONDO:0010146 Kerion celsi skos:exactMatch SCTID:19087001 semapv:UnspecifiedMatching MONDO:0010146 Kerion celsi skos:exactMatch UMLS:C0276742 semapv:UnspecifiedMatching MONDO:0010147 tongue, pigmented fungiform papillae of skos:exactMatch OMIM:275250 tongue, pigmented fungiform papillae of semapv:UnspecifiedMatching MONDO:0010147 tongue, pigmented fungiform papillae of skos:exactMatch UMLS:C1848756 semapv:UnspecifiedMatching MONDO:0010148 Mounier-Kuhn syndrome skos:exactMatch NCIT:C85196 Tracheobronchomegaly semapv:UnspecifiedMatching MONDO:0010148 Mounier-Kuhn syndrome skos:exactMatch OMIM:275300 tracheobronchomegaly semapv:UnspecifiedMatching MONDO:0010148 Mounier-Kuhn syndrome skos:exactMatch Orphanet:3347 Mounier-Kühn syndrome semapv:UnspecifiedMatching MONDO:0010148 Mounier-Kuhn syndrome skos:exactMatch SCTID:57451009 semapv:UnspecifiedMatching MONDO:0010148 Mounier-Kuhn syndrome skos:exactMatch UMLS:C0040587 semapv:UnspecifiedMatching MONDO:0010148 Mounier-Kuhn syndrome skos:exactMatch mesh:D014137 semapv:UnspecifiedMatching MONDO:0010149 transcobalamin II deficiency skos:exactMatch DOID:0050818 transcobalamin II deficiency semapv:UnspecifiedMatching MONDO:0010149 transcobalamin II deficiency skos:exactMatch ICD10CM:D51.2 Transcobalamin II deficiency semapv:UnspecifiedMatching MONDO:0010149 transcobalamin II deficiency skos:exactMatch NCIT:C142806 Transcobalamin II Deficiency semapv:UnspecifiedMatching MONDO:0010149 transcobalamin II deficiency skos:exactMatch OMIM:275350 transcobalamin 2 deficiency semapv:UnspecifiedMatching MONDO:0010149 transcobalamin II deficiency skos:exactMatch Orphanet:859 Transcobalamin deficiency semapv:UnspecifiedMatching MONDO:0010149 transcobalamin II deficiency skos:exactMatch SCTID:237934001 semapv:UnspecifiedMatching MONDO:0010149 transcobalamin II deficiency skos:exactMatch UMLS:C0342701 semapv:UnspecifiedMatching MONDO:0010150 head and neck squamous cell carcinoma skos:exactMatch DOID:5520 head and neck squamous cell carcinoma semapv:UnspecifiedMatching MONDO:0010150 head and neck squamous cell carcinoma skos:exactMatch NCIT:C34447 Head and Neck Squamous Cell Carcinoma semapv:UnspecifiedMatching MONDO:0010150 head and neck squamous cell carcinoma skos:exactMatch OMIM:275355 squamous cell carcinoma, head and neck semapv:UnspecifiedMatching MONDO:0010150 head and neck squamous cell carcinoma skos:exactMatch SCTID:716659002 semapv:UnspecifiedMatching MONDO:0010150 head and neck squamous cell carcinoma skos:exactMatch UMLS:C1168401 semapv:UnspecifiedMatching MONDO:0010150 head and neck squamous cell carcinoma skos:exactMatch mesh:C535575 semapv:UnspecifiedMatching MONDO:0010151 tricarboxylic acid cycle, defect of skos:exactMatch OMIM:275370 tricarboxylic acid cycle, defect of semapv:UnspecifiedMatching MONDO:0010151 tricarboxylic acid cycle, defect of skos:exactMatch UMLS:C1848746 semapv:UnspecifiedMatching MONDO:0010151 tricarboxylic acid cycle, defect of skos:exactMatch mesh:C564762 semapv:UnspecifiedMatching MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:exactMatch DOID:0111271 Oliver-McFarlane syndrome semapv:UnspecifiedMatching MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:exactMatch OMIM:275400 oliver-mcfarlane syndrome semapv:UnspecifiedMatching MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:exactMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:UnspecifiedMatching MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:exactMatch SCTID:719944006 semapv:UnspecifiedMatching MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:exactMatch UMLS:C1848745 semapv:UnspecifiedMatching MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:exactMatch mesh:C536554 semapv:UnspecifiedMatching MONDO:0010153 trichoodontoonychial dysplasia skos:exactMatch OMIM:275450 trichoodontoonychial dysplasia with bone deficiency semapv:UnspecifiedMatching MONDO:0010153 trichoodontoonychial dysplasia skos:exactMatch Orphanet:3355 Trichoodontoonychial dysplasia semapv:UnspecifiedMatching MONDO:0010153 trichoodontoonychial dysplasia skos:exactMatch SCTID:766813000 semapv:UnspecifiedMatching MONDO:0010153 trichoodontoonychial dysplasia skos:exactMatch UMLS:C3279457 semapv:UnspecifiedMatching MONDO:0010153 trichoodontoonychial dysplasia skos:exactMatch mesh:C564760 semapv:UnspecifiedMatching MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:exactMatch OMIM:275595 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet semapv:UnspecifiedMatching MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:exactMatch Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome semapv:UnspecifiedMatching MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:exactMatch UMLS:C1848743 semapv:UnspecifiedMatching MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:exactMatch mesh:C564759 semapv:UnspecifiedMatching MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch OMIM:275630 chanarin-dorfman syndrome semapv:UnspecifiedMatching MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:UnspecifiedMatching MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch SCTID:19604005 semapv:UnspecifiedMatching MONDO:0010156 Troyer syndrome skos:exactMatch DOID:0050886 Troyer syndrome semapv:UnspecifiedMatching MONDO:0010156 Troyer syndrome skos:exactMatch OMIM:275900 spastic paraplegia 20, autosomal recessive semapv:UnspecifiedMatching MONDO:0010156 Troyer syndrome skos:exactMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:UnspecifiedMatching MONDO:0010156 Troyer syndrome skos:exactMatch SCTID:230264003 semapv:UnspecifiedMatching MONDO:0010156 Troyer syndrome skos:exactMatch UMLS:C0393559 semapv:UnspecifiedMatching MONDO:0010156 Troyer syndrome skos:exactMatch mesh:C536858 semapv:UnspecifiedMatching MONDO:0010157 Tryptophanuria with dwarfism skos:exactMatch OMIM:276100 tryptophanuria with dwarfism semapv:UnspecifiedMatching MONDO:0010157 Tryptophanuria with dwarfism skos:exactMatch SCTID:12045002 semapv:UnspecifiedMatching MONDO:0010157 Tryptophanuria with dwarfism skos:exactMatch UMLS:C0268473 semapv:UnspecifiedMatching MONDO:0010157 Tryptophanuria with dwarfism skos:exactMatch mesh:C562658 semapv:UnspecifiedMatching MONDO:0010158 T-substance anomaly skos:exactMatch OMIM:276200 t-substance anomaly semapv:UnspecifiedMatching MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch NCIT:C130202 Constitutional Mismatch Repair Deficiency Syndrome semapv:UnspecifiedMatching MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:UnspecifiedMatching MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch SCTID:61665008 semapv:UnspecifiedMatching MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch UMLS:C5399763 semapv:UnspecifiedMatching MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch mesh:C536928 semapv:UnspecifiedMatching MONDO:0010160 tyrosinemia type II skos:exactMatch DOID:0050725 tyrosinemia type II semapv:UnspecifiedMatching MONDO:0010160 tyrosinemia type II skos:exactMatch NCIT:C129032 Tyrosinemia Type II semapv:UnspecifiedMatching MONDO:0010160 tyrosinemia type II skos:exactMatch OMIM:276600 tyrosinemia, iia 2 semapv:UnspecifiedMatching MONDO:0010160 tyrosinemia type II skos:exactMatch Orphanet:28378 Tyrosinemia type 2 semapv:UnspecifiedMatching MONDO:0010160 tyrosinemia type II skos:exactMatch SCTID:4887000 semapv:UnspecifiedMatching MONDO:0010161 tyrosinemia type I skos:exactMatch DOID:0050726 tyrosinemia type I semapv:UnspecifiedMatching MONDO:0010161 tyrosinemia type I skos:exactMatch NCIT:C98641 Tyrosinemia Type I semapv:UnspecifiedMatching MONDO:0010161 tyrosinemia type I skos:exactMatch OMIM:276700 tyrosinemia, iia 1 semapv:UnspecifiedMatching MONDO:0010161 tyrosinemia type I skos:exactMatch Orphanet:882 Tyrosinemia type 1 semapv:UnspecifiedMatching MONDO:0010161 tyrosinemia type I skos:exactMatch SCTID:410056006 semapv:UnspecifiedMatching MONDO:0010161 tyrosinemia type I skos:exactMatch UMLS:C0268490 semapv:UnspecifiedMatching MONDO:0010162 tyrosinemia type III skos:exactMatch DOID:0050727 tyrosinemia type III semapv:UnspecifiedMatching MONDO:0010162 tyrosinemia type III skos:exactMatch OMIM:276710 tyrosinemia, iia 3 semapv:UnspecifiedMatching MONDO:0010162 tyrosinemia type III skos:exactMatch Orphanet:69723 Tyrosinemia type 3 semapv:UnspecifiedMatching MONDO:0010162 tyrosinemia type III skos:exactMatch SCTID:415764005 semapv:UnspecifiedMatching MONDO:0010162 tyrosinemia type III skos:exactMatch UMLS:C0268623 semapv:UnspecifiedMatching MONDO:0010163 Tyrosinosis skos:exactMatch OMIM:276800 tyrosinosis semapv:UnspecifiedMatching MONDO:0010163 Tyrosinosis skos:exactMatch SCTID:57414003 semapv:UnspecifiedMatching MONDO:0010163 Tyrosinosis skos:exactMatch UMLS:C0268484 semapv:UnspecifiedMatching MONDO:0010163 Tyrosinosis skos:exactMatch mesh:C562659 semapv:UnspecifiedMatching MONDO:0010164 phocomelia, Schinzel type skos:exactMatch DOID:0112181 Schinzel type phocomelia semapv:UnspecifiedMatching MONDO:0010164 phocomelia, Schinzel type skos:exactMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:UnspecifiedMatching MONDO:0010164 phocomelia, Schinzel type skos:exactMatch Orphanet:2879 Phocomelia, Schinzel type semapv:UnspecifiedMatching MONDO:0010164 phocomelia, Schinzel type skos:exactMatch SCTID:715522000 semapv:UnspecifiedMatching MONDO:0010164 phocomelia, Schinzel type skos:exactMatch mesh:C535612 semapv:UnspecifiedMatching MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:exactMatch OMIM:276821 ulnar hypoplasia with mental retardation semapv:UnspecifiedMatching MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:exactMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:exactMatch UMLS:C1848650 semapv:UnspecifiedMatching MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:exactMatch mesh:C564757 semapv:UnspecifiedMatching MONDO:0010166 ulnar agenesis and endocardial fibroelastosis skos:exactMatch OMIM:276822 ulnar agenesis and endocardial fibroelastosis semapv:UnspecifiedMatching MONDO:0010166 ulnar agenesis and endocardial fibroelastosis skos:exactMatch UMLS:C1848649 semapv:UnspecifiedMatching MONDO:0010166 ulnar agenesis and endocardial fibroelastosis skos:exactMatch mesh:C564756 semapv:UnspecifiedMatching MONDO:0010167 urocanic aciduria skos:exactMatch DOID:0112180 urocanase deficiency semapv:UnspecifiedMatching MONDO:0010167 urocanic aciduria skos:exactMatch OMIM:276880 urocanase deficiency semapv:UnspecifiedMatching MONDO:0010167 urocanic aciduria skos:exactMatch Orphanet:210128 Urocanic aciduria semapv:UnspecifiedMatching MONDO:0010167 urocanic aciduria skos:exactMatch SCTID:60952007 semapv:UnspecifiedMatching MONDO:0010167 urocanic aciduria skos:exactMatch UMLS:C0268514 semapv:UnspecifiedMatching MONDO:0010167 urocanic aciduria skos:exactMatch mesh:C536479 semapv:UnspecifiedMatching MONDO:0010168 Usher syndrome type 1 skos:exactMatch DOID:0110826 Usher syndrome type 1 semapv:UnspecifiedMatching MONDO:0010168 Usher syndrome type 1 skos:exactMatch NCIT:C126327 Usher Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0010168 Usher syndrome type 1 skos:exactMatch Orphanet:231169 Usher syndrome type 1 semapv:UnspecifiedMatching MONDO:0010168 Usher syndrome type 1 skos:exactMatch SCTID:232057003 semapv:UnspecifiedMatching MONDO:0010169 Usher syndrome type 2A skos:exactMatch DOID:0110838 Usher syndrome type 2A semapv:UnspecifiedMatching MONDO:0010169 Usher syndrome type 2A skos:exactMatch OMIM:276901 usher syndrome, iia 2a semapv:UnspecifiedMatching MONDO:0010169 Usher syndrome type 2A skos:exactMatch UMLS:C1848634 semapv:UnspecifiedMatching MONDO:0010169 Usher syndrome type 2A skos:exactMatch mesh:C536490 semapv:UnspecifiedMatching MONDO:0010170 Usher syndrome type 3A skos:exactMatch DOID:0110841 Usher syndrome type 3A semapv:UnspecifiedMatching MONDO:0010170 Usher syndrome type 3A skos:exactMatch OMIM:276902 usher syndrome, iia 3a semapv:UnspecifiedMatching MONDO:0010171 Usher syndrome type 1C skos:exactMatch DOID:0110830 Usher syndrome type 1C semapv:UnspecifiedMatching MONDO:0010171 Usher syndrome type 1C skos:exactMatch OMIM:276904 usher syndrome, iia 1c semapv:UnspecifiedMatching MONDO:0010171 Usher syndrome type 1C skos:exactMatch UMLS:C1848604 semapv:UnspecifiedMatching MONDO:0010172 VACTERL with hydrocephalus skos:exactMatch OMIM:276950 vacterl association with hydrocephalus semapv:UnspecifiedMatching MONDO:0010172 VACTERL with hydrocephalus skos:exactMatch Orphanet:3412 VACTERL with hydrocephalus semapv:UnspecifiedMatching MONDO:0010172 VACTERL with hydrocephalus skos:exactMatch UMLS:C1848599 semapv:UnspecifiedMatching MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:exactMatch DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 semapv:UnspecifiedMatching MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:UnspecifiedMatching MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:exactMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:UnspecifiedMatching MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:exactMatch SCTID:8793008 semapv:UnspecifiedMatching MONDO:0010174 Valinemia skos:exactMatch OMIM:277100 valinemia semapv:UnspecifiedMatching MONDO:0010174 Valinemia skos:exactMatch SCTID:47719001 semapv:UnspecifiedMatching MONDO:0010174 Valinemia skos:exactMatch UMLS:C0268573 semapv:UnspecifiedMatching MONDO:0010174 Valinemia skos:exactMatch mesh:C536524 semapv:UnspecifiedMatching MONDO:0010175 van Bogaert-Hozay syndrome skos:exactMatch OMIM:277150 van bogaert-hozay syndrome semapv:UnspecifiedMatching MONDO:0010175 van Bogaert-Hozay syndrome skos:exactMatch UMLS:C1848598 semapv:UnspecifiedMatching MONDO:0010175 van Bogaert-Hozay syndrome skos:exactMatch mesh:C536526 semapv:UnspecifiedMatching MONDO:0010176 orofaciodigital syndrome type 6 skos:exactMatch DOID:0060376 Joubert syndrome with orofaciodigital defect semapv:UnspecifiedMatching MONDO:0010176 orofaciodigital syndrome type 6 skos:exactMatch NCIT:C124841 Orofaciodigital Syndrome Type 6 semapv:UnspecifiedMatching MONDO:0010176 orofaciodigital syndrome type 6 skos:exactMatch OMIM:277170 orofaciodigital syndrome 6 semapv:UnspecifiedMatching MONDO:0010176 orofaciodigital syndrome type 6 skos:exactMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:UnspecifiedMatching MONDO:0010176 orofaciodigital syndrome type 6 skos:exactMatch SCTID:721873007 semapv:UnspecifiedMatching MONDO:0010176 orofaciodigital syndrome type 6 skos:exactMatch UMLS:C2745997 semapv:UnspecifiedMatching MONDO:0010176 orofaciodigital syndrome type 6 skos:exactMatch mesh:C536531 semapv:UnspecifiedMatching MONDO:0010177 vascular hyalinosis skos:exactMatch OMIM:277175 vascular hyalinosis semapv:UnspecifiedMatching MONDO:0010177 vascular hyalinosis skos:exactMatch Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome semapv:UnspecifiedMatching MONDO:0010177 vascular hyalinosis skos:exactMatch mesh:C564750 semapv:UnspecifiedMatching MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:exactMatch DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens semapv:UnspecifiedMatching MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:exactMatch NCIT:C129303 Congenital Bilateral Aplasia of the Vas Deferens semapv:UnspecifiedMatching MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:exactMatch OMIM:277180 vas deferens, congenital bilateral aplasia of semapv:UnspecifiedMatching MONDO:0010179 isolated right ventricular hypoplasia skos:exactMatch OMIM:277200 right ventricular hypoplasia, isolated semapv:UnspecifiedMatching MONDO:0010179 isolated right ventricular hypoplasia skos:exactMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:UnspecifiedMatching MONDO:0010179 isolated right ventricular hypoplasia skos:exactMatch SCTID:718135001 semapv:UnspecifiedMatching MONDO:0010179 isolated right ventricular hypoplasia skos:exactMatch UMLS:C1848587 semapv:UnspecifiedMatching MONDO:0010179 isolated right ventricular hypoplasia skos:exactMatch mesh:C535682 semapv:UnspecifiedMatching MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:exactMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:UnspecifiedMatching MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:exactMatch SCTID:61367005 semapv:UnspecifiedMatching MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:exactMatch mesh:C535781 semapv:UnspecifiedMatching MONDO:0010181 oculogastrointestinal muscular dystrophy skos:exactMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:UnspecifiedMatching MONDO:0010181 oculogastrointestinal muscular dystrophy skos:exactMatch Orphanet:1876 Oculogastrointestinal muscular dystrophy semapv:UnspecifiedMatching MONDO:0010181 oculogastrointestinal muscular dystrophy skos:exactMatch SCTID:722060007 semapv:UnspecifiedMatching MONDO:0010182 hypercarotenemia and vitamin A deficiency, autosomal recessive skos:exactMatch OMIM:277350 hypercarotenemia and vitamin a deficiency, autosomal recessive semapv:UnspecifiedMatching MONDO:0010182 hypercarotenemia and vitamin A deficiency, autosomal recessive skos:exactMatch UMLS:C2678266 semapv:UnspecifiedMatching MONDO:0010182 hypercarotenemia and vitamin A deficiency, autosomal recessive skos:exactMatch mesh:C567486 semapv:UnspecifiedMatching MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch DOID:0050717 methylmalonic aciduria and homocystinuria type cblF semapv:UnspecifiedMatching MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:UnspecifiedMatching MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:UnspecifiedMatching MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch SCTID:80887004 semapv:UnspecifiedMatching MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch mesh:C564747 semapv:UnspecifiedMatching MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch DOID:0050715 methylmalonic aciduria and homocystinuria type cblC semapv:UnspecifiedMatching MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch NCIT:C142174 Methylmalonic Aciduria and Homocystinuria, cblC Type semapv:UnspecifiedMatching MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia semapv:UnspecifiedMatching MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:UnspecifiedMatching MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch SCTID:74653006 semapv:UnspecifiedMatching MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch UMLS:C1848561 semapv:UnspecifiedMatching MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch DOID:0050716 methylmalonic aciduria and homocystinuria type cblD semapv:UnspecifiedMatching MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:UnspecifiedMatching MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:UnspecifiedMatching MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch SCTID:31220004 semapv:UnspecifiedMatching MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch UMLS:C1848552 semapv:UnspecifiedMatching MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch mesh:C564743 semapv:UnspecifiedMatching MONDO:0010186 vitamin D-dependent rickets, type 2A skos:exactMatch DOID:0080884 vitamin D-dependent rickets type 2A semapv:UnspecifiedMatching MONDO:0010186 vitamin D-dependent rickets, type 2A skos:exactMatch NCIT:C131075 Vitamin D Dependent Rickets 2a semapv:UnspecifiedMatching MONDO:0010186 vitamin D-dependent rickets, type 2A skos:exactMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:UnspecifiedMatching MONDO:0010186 vitamin D-dependent rickets, type 2A skos:exactMatch SCTID:237894002 semapv:UnspecifiedMatching MONDO:0010186 vitamin D-dependent rickets, type 2A skos:exactMatch UMLS:C0342646 semapv:UnspecifiedMatching MONDO:0010186 vitamin D-dependent rickets, type 2A skos:exactMatch mesh:C562794 semapv:UnspecifiedMatching MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:exactMatch DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 semapv:UnspecifiedMatching MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:exactMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:UnspecifiedMatching MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:exactMatch SCTID:724356003 semapv:UnspecifiedMatching MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:exactMatch UMLS:C1848534 semapv:UnspecifiedMatching MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:exactMatch mesh:C564741 semapv:UnspecifiedMatching MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch DOID:0090028 familial isolated deficiency of vitamin E semapv:UnspecifiedMatching MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch OMIM:277460 ataxia with vitamin e deficiency semapv:UnspecifiedMatching MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:UnspecifiedMatching MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch SCTID:702442008 semapv:UnspecifiedMatching MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch mesh:C535393 semapv:UnspecifiedMatching MONDO:0010189 vitiligo, progressive, with intellectual disability and urethral duplication skos:exactMatch OMIM:277465 vitiligo, progressive, with mental retardation and urethral duplication semapv:UnspecifiedMatching MONDO:0010189 vitiligo, progressive, with intellectual disability and urethral duplication skos:exactMatch UMLS:C1848532 semapv:UnspecifiedMatching MONDO:0010189 vitiligo, progressive, with intellectual disability and urethral duplication skos:exactMatch mesh:C564739 semapv:UnspecifiedMatching MONDO:0010190 pontocerebellar hypoplasia type 2A skos:exactMatch DOID:0060267 pontocerebellar hypoplasia type 2A semapv:UnspecifiedMatching MONDO:0010190 pontocerebellar hypoplasia type 2A skos:exactMatch OMIM:277470 pontocerebellar hypoplasia, iia 2a semapv:UnspecifiedMatching MONDO:0010190 pontocerebellar hypoplasia type 2A skos:exactMatch mesh:C564738 semapv:UnspecifiedMatching MONDO:0010191 von Willebrand disease 3 skos:exactMatch DOID:0111054 von Willebrand's disease 3 semapv:UnspecifiedMatching MONDO:0010191 von Willebrand disease 3 skos:exactMatch NCIT:C85213 von Willebrand Disease, Type 3 semapv:UnspecifiedMatching MONDO:0010191 von Willebrand disease 3 skos:exactMatch OMIM:277480 von willebrand disease, iia 3 semapv:UnspecifiedMatching MONDO:0010191 von Willebrand disease 3 skos:exactMatch Orphanet:166096 Von Willebrand disease type 3 semapv:UnspecifiedMatching MONDO:0010191 von Willebrand disease 3 skos:exactMatch SCTID:128108002 semapv:UnspecifiedMatching MONDO:0010191 von Willebrand disease 3 skos:exactMatch UMLS:C1264041 semapv:UnspecifiedMatching MONDO:0010191 von Willebrand disease 3 skos:exactMatch mesh:D056729 semapv:UnspecifiedMatching MONDO:0010192 Waardenburg syndrome type 4A skos:exactMatch DOID:0110953 Waardenburg syndrome type 4A semapv:UnspecifiedMatching MONDO:0010192 Waardenburg syndrome type 4A skos:exactMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:UnspecifiedMatching MONDO:0010193 Weaver syndrome skos:exactMatch DOID:14731 Weaver syndrome semapv:UnspecifiedMatching MONDO:0010193 Weaver syndrome skos:exactMatch NCIT:C125599 Weaver Syndrome semapv:UnspecifiedMatching MONDO:0010193 Weaver syndrome skos:exactMatch OMIM:277590 weaver syndrome semapv:UnspecifiedMatching MONDO:0010193 Weaver syndrome skos:exactMatch Orphanet:3447 Weaver syndrome semapv:UnspecifiedMatching MONDO:0010193 Weaver syndrome skos:exactMatch SCTID:63119004 semapv:UnspecifiedMatching MONDO:0010193 Weaver syndrome skos:exactMatch UMLS:C0265210 semapv:UnspecifiedMatching MONDO:0010193 Weaver syndrome skos:exactMatch mesh:C536687 semapv:UnspecifiedMatching MONDO:0010194 Weill-Marchesani syndrome 1 skos:exactMatch OMIM:277600 weill-marchesani syndrome 1 semapv:UnspecifiedMatching MONDO:0010196 Werner syndrome skos:exactMatch DOID:5688 Werner syndrome semapv:UnspecifiedMatching MONDO:0010196 Werner syndrome skos:exactMatch NCIT:C3447 Werner Syndrome semapv:UnspecifiedMatching MONDO:0010196 Werner syndrome skos:exactMatch OMIM:277700 werner syndrome semapv:UnspecifiedMatching MONDO:0010196 Werner syndrome skos:exactMatch Orphanet:902 Werner syndrome semapv:UnspecifiedMatching MONDO:0010196 Werner syndrome skos:exactMatch SCTID:51626007 semapv:UnspecifiedMatching MONDO:0010196 Werner syndrome skos:exactMatch UMLS:C0043119 semapv:UnspecifiedMatching MONDO:0010196 Werner syndrome skos:exactMatch mesh:D014898 semapv:UnspecifiedMatching MONDO:0010197 whistling face syndrome, recessive form skos:exactMatch DOID:0111606 autosomal recessive Whistling face syndrome semapv:UnspecifiedMatching MONDO:0010197 whistling face syndrome, recessive form skos:exactMatch OMIM:277720 whistling face syndrome, recessive form semapv:UnspecifiedMatching MONDO:0010197 whistling face syndrome, recessive form skos:exactMatch UMLS:C1848470 semapv:UnspecifiedMatching MONDO:0010197 whistling face syndrome, recessive form skos:exactMatch mesh:C536699 semapv:UnspecifiedMatching MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch DOID:10915 Wernicke-Korsakoff syndrome semapv:UnspecifiedMatching MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch NCIT:C35764 Wernicke-Korsakoff Syndrome semapv:UnspecifiedMatching MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch OMIM:277730 wernicke-korsakoff syndrome semapv:UnspecifiedMatching MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch SCTID:69482004 semapv:UnspecifiedMatching MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch mesh:C538669 semapv:UnspecifiedMatching MONDO:0010199 white forelock with malformations skos:exactMatch OMIM:277740 white forelock with malformations semapv:UnspecifiedMatching MONDO:0010199 white forelock with malformations skos:exactMatch Orphanet:2475 White forelock with malformations semapv:UnspecifiedMatching MONDO:0010199 white forelock with malformations skos:exactMatch SCTID:763619009 semapv:UnspecifiedMatching MONDO:0010199 white forelock with malformations skos:exactMatch UMLS:C1848463 semapv:UnspecifiedMatching MONDO:0010199 white forelock with malformations skos:exactMatch mesh:C536700 semapv:UnspecifiedMatching MONDO:0010200 Wilson disease skos:exactMatch DOID:893 Wilson disease semapv:UnspecifiedMatching MONDO:0010200 Wilson disease skos:exactMatch ICD10CM:E83.01 Wilson's disease semapv:UnspecifiedMatching MONDO:0010200 Wilson disease skos:exactMatch NCIT:C84756 Hepatolenticular Degeneration semapv:UnspecifiedMatching MONDO:0010200 Wilson disease skos:exactMatch OMIM:277900 wilson disease semapv:UnspecifiedMatching MONDO:0010200 Wilson disease skos:exactMatch Orphanet:905 Wilson disease semapv:UnspecifiedMatching MONDO:0010200 Wilson disease skos:exactMatch SCTID:88518009 semapv:UnspecifiedMatching MONDO:0010200 Wilson disease skos:exactMatch UMLS:C0019202 semapv:UnspecifiedMatching MONDO:0010200 Wilson disease skos:exactMatch mesh:D006527 semapv:UnspecifiedMatching MONDO:0010201 Winchester syndrome skos:exactMatch DOID:0080696 Winchester syndrome semapv:UnspecifiedMatching MONDO:0010201 Winchester syndrome skos:exactMatch NCIT:C170731 Winchester Syndrome semapv:UnspecifiedMatching MONDO:0010201 Winchester syndrome skos:exactMatch OMIM:277950 winchester syndrome semapv:UnspecifiedMatching MONDO:0010201 Winchester syndrome skos:exactMatch SCTID:254151006 semapv:UnspecifiedMatching MONDO:0010201 Winchester syndrome skos:exactMatch UMLS:C0432289 semapv:UnspecifiedMatching MONDO:0010201 Winchester syndrome skos:exactMatch mesh:C536709 semapv:UnspecifiedMatching MONDO:0010203 intellectual disability, Wolff type skos:exactMatch OMIM:277990 wolff mental retardation syndrome semapv:UnspecifiedMatching MONDO:0010203 intellectual disability, Wolff type skos:exactMatch Orphanet:3080 Intellectual disability, Wolff type semapv:UnspecifiedMatching MONDO:0010203 intellectual disability, Wolff type skos:exactMatch UMLS:C1848439 semapv:UnspecifiedMatching MONDO:0010203 intellectual disability, Wolff type skos:exactMatch mesh:C537448 semapv:UnspecifiedMatching MONDO:0010206 hypotrichosis 8 skos:exactMatch DOID:0110705 hypotrichosis 8 semapv:UnspecifiedMatching MONDO:0010206 hypotrichosis 8 skos:exactMatch OMIM:278150 hypotrichosis 8 semapv:UnspecifiedMatching MONDO:0010206 hypotrichosis 8 skos:exactMatch UMLS:C3279470 semapv:UnspecifiedMatching MONDO:0010206 hypotrichosis 8 skos:exactMatch mesh:C566950 semapv:UnspecifiedMatching MONDO:0010207 wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome skos:exactMatch OMIM:278200 woolly hair, hypotrichosis, everted lower lip, and outstanding ears semapv:UnspecifiedMatching MONDO:0010207 wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome skos:exactMatch SCTID:239023005 semapv:UnspecifiedMatching MONDO:0010207 wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome skos:exactMatch mesh:C536746 semapv:UnspecifiedMatching MONDO:0010208 wrinkly skin syndrome skos:exactMatch DOID:0112171 wrinkly skin syndrome semapv:UnspecifiedMatching MONDO:0010208 wrinkly skin syndrome skos:exactMatch OMIM:278250 wrinkly skin syndrome semapv:UnspecifiedMatching MONDO:0010208 wrinkly skin syndrome skos:exactMatch Orphanet:2834 Wrinkly skin syndrome semapv:UnspecifiedMatching MONDO:0010208 wrinkly skin syndrome skos:exactMatch SCTID:238875009 semapv:UnspecifiedMatching MONDO:0010208 wrinkly skin syndrome skos:exactMatch UMLS:C0406587 semapv:UnspecifiedMatching MONDO:0010208 wrinkly skin syndrome skos:exactMatch mesh:C536750 semapv:UnspecifiedMatching MONDO:0010209 xanthinuria type I skos:exactMatch OMIM:278300 xanthinuria, iia 1 semapv:UnspecifiedMatching MONDO:0010209 xanthinuria type I skos:exactMatch Orphanet:93601 Xanthinuria type I semapv:UnspecifiedMatching MONDO:0010209 xanthinuria type I skos:exactMatch SCTID:72682008 semapv:UnspecifiedMatching MONDO:0010209 xanthinuria type I skos:exactMatch mesh:C562584 semapv:UnspecifiedMatching MONDO:0010210 xeroderma pigmentosum group A skos:exactMatch DOID:0110843 xeroderma pigmentosum group A semapv:UnspecifiedMatching MONDO:0010210 xeroderma pigmentosum group A skos:exactMatch NCIT:C3965 Xeroderma Pigmentosum, Complementation Group A semapv:UnspecifiedMatching MONDO:0010210 xeroderma pigmentosum group A skos:exactMatch OMIM:278700 xeroderma pigmentosum, complementation group a semapv:UnspecifiedMatching MONDO:0010210 xeroderma pigmentosum group A skos:exactMatch SCTID:43477006 semapv:UnspecifiedMatching MONDO:0010210 xeroderma pigmentosum group A skos:exactMatch UMLS:C0268135 semapv:UnspecifiedMatching MONDO:0010211 xeroderma pigmentosum group C skos:exactMatch DOID:0110844 xeroderma pigmentosum group C semapv:UnspecifiedMatching MONDO:0010211 xeroderma pigmentosum group C skos:exactMatch NCIT:C114770 Xeroderma Pigmentosum, Complementation Group C semapv:UnspecifiedMatching MONDO:0010211 xeroderma pigmentosum group C skos:exactMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:UnspecifiedMatching MONDO:0010211 xeroderma pigmentosum group C skos:exactMatch SCTID:25784009 semapv:UnspecifiedMatching MONDO:0010211 xeroderma pigmentosum group C skos:exactMatch UMLS:C2752147 semapv:UnspecifiedMatching MONDO:0010211 xeroderma pigmentosum group C skos:exactMatch mesh:C567886 semapv:UnspecifiedMatching MONDO:0010212 xeroderma pigmentosum group D skos:exactMatch DOID:0110845 xeroderma pigmentosum group D semapv:UnspecifiedMatching MONDO:0010212 xeroderma pigmentosum group D skos:exactMatch NCIT:C3967 Xeroderma Pigmentosum, Complementation Group D semapv:UnspecifiedMatching MONDO:0010212 xeroderma pigmentosum group D skos:exactMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:UnspecifiedMatching MONDO:0010212 xeroderma pigmentosum group D skos:exactMatch SCTID:68637004 semapv:UnspecifiedMatching MONDO:0010212 xeroderma pigmentosum group D skos:exactMatch mesh:C562591 semapv:UnspecifiedMatching MONDO:0010213 xeroderma pigmentosum group E skos:exactMatch DOID:0110846 xeroderma pigmentosum group E semapv:UnspecifiedMatching MONDO:0010213 xeroderma pigmentosum group E skos:exactMatch NCIT:C114771 Xeroderma Pigmentosum, Complementation Group E semapv:UnspecifiedMatching MONDO:0010213 xeroderma pigmentosum group E skos:exactMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:UnspecifiedMatching MONDO:0010213 xeroderma pigmentosum group E skos:exactMatch SCTID:56048001 semapv:UnspecifiedMatching MONDO:0010213 xeroderma pigmentosum group E skos:exactMatch UMLS:C1848411 semapv:UnspecifiedMatching MONDO:0010213 xeroderma pigmentosum group E skos:exactMatch mesh:C564732 semapv:UnspecifiedMatching MONDO:0010214 xeroderma pigmentosum variant type skos:exactMatch DOID:0110847 xeroderma pigmentosum variant type semapv:UnspecifiedMatching MONDO:0010214 xeroderma pigmentosum variant type skos:exactMatch NCIT:C141367 Xeroderma Pigmentosum Variant Type semapv:UnspecifiedMatching MONDO:0010214 xeroderma pigmentosum variant type skos:exactMatch OMIM:278750 xeroderma pigmentosum, variant iia semapv:UnspecifiedMatching MONDO:0010214 xeroderma pigmentosum variant type skos:exactMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:UnspecifiedMatching MONDO:0010214 xeroderma pigmentosum variant type skos:exactMatch UMLS:C1848410 semapv:UnspecifiedMatching MONDO:0010214 xeroderma pigmentosum variant type skos:exactMatch mesh:C536766 semapv:UnspecifiedMatching MONDO:0010215 xeroderma pigmentosum group F skos:exactMatch DOID:0110848 xeroderma pigmentosum group F semapv:UnspecifiedMatching MONDO:0010215 xeroderma pigmentosum group F skos:exactMatch NCIT:C3968 Xeroderma Pigmentosum, Complementation Group F semapv:UnspecifiedMatching MONDO:0010215 xeroderma pigmentosum group F skos:exactMatch OMIM:278760 xeroderma pigmentosum, complementation group f semapv:UnspecifiedMatching MONDO:0010215 xeroderma pigmentosum group F skos:exactMatch SCTID:42530008 semapv:UnspecifiedMatching MONDO:0010215 xeroderma pigmentosum group F skos:exactMatch mesh:C562592 semapv:UnspecifiedMatching MONDO:0010216 xeroderma pigmentosum group G skos:exactMatch DOID:0110849 xeroderma pigmentosum group G semapv:UnspecifiedMatching MONDO:0010216 xeroderma pigmentosum group G skos:exactMatch NCIT:C3969 Xeroderma Pigmentosum, Complementation Group G semapv:UnspecifiedMatching MONDO:0010216 xeroderma pigmentosum group G skos:exactMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:UnspecifiedMatching MONDO:0010216 xeroderma pigmentosum group G skos:exactMatch SCTID:36454001 semapv:UnspecifiedMatching MONDO:0010216 xeroderma pigmentosum group G skos:exactMatch UMLS:C0268141 semapv:UnspecifiedMatching MONDO:0010216 xeroderma pigmentosum group G skos:exactMatch mesh:C562593 semapv:UnspecifiedMatching MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch DOID:0112158 De Sanctis-Cacchione syndrome semapv:UnspecifiedMatching MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch NCIT:C84666 De Sanctis-Cacchione Syndrome semapv:UnspecifiedMatching MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch OMIM:278800 lange sanctis-cacchione syndrome semapv:UnspecifiedMatching MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch SCTID:414673004 semapv:UnspecifiedMatching MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch UMLS:C0265201 semapv:UnspecifiedMatching MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch mesh:C535992 semapv:UnspecifiedMatching MONDO:0010218 46,XX sex reversal 2 skos:exactMatch DOID:0111763 46,XX sex reversal 2 semapv:UnspecifiedMatching MONDO:0010218 46,XX sex reversal 2 skos:exactMatch OMIM:278850 46,xx sex reversal 2 semapv:UnspecifiedMatching MONDO:0010218 46,XX sex reversal 2 skos:exactMatch UMLS:C2749215 semapv:UnspecifiedMatching MONDO:0010219 xylosidase deficiency skos:exactMatch OMIM:278900 xylosidase deficiency semapv:UnspecifiedMatching MONDO:0010219 xylosidase deficiency skos:exactMatch UMLS:C1848407 semapv:UnspecifiedMatching MONDO:0010219 xylosidase deficiency skos:exactMatch mesh:C564730 semapv:UnspecifiedMatching MONDO:0010220 Young syndrome skos:exactMatch OMIM:279000 young syndrome semapv:UnspecifiedMatching MONDO:0010220 Young syndrome skos:exactMatch Orphanet:3471 Young syndrome semapv:UnspecifiedMatching MONDO:0010220 Young syndrome skos:exactMatch SCTID:233666007 semapv:UnspecifiedMatching MONDO:0010220 Young syndrome skos:exactMatch UMLS:C0340037 semapv:UnspecifiedMatching MONDO:0010220 Young syndrome skos:exactMatch mesh:C536718 semapv:UnspecifiedMatching MONDO:0010221 CHIME syndrome skos:exactMatch DOID:0112152 CHIME syndrome semapv:UnspecifiedMatching MONDO:0010221 CHIME syndrome skos:exactMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:UnspecifiedMatching MONDO:0010221 CHIME syndrome skos:exactMatch Orphanet:3474 CHIME syndrome semapv:UnspecifiedMatching MONDO:0010221 CHIME syndrome skos:exactMatch SCTID:720639008 semapv:UnspecifiedMatching MONDO:0010221 CHIME syndrome skos:exactMatch UMLS:C1848392 semapv:UnspecifiedMatching MONDO:0010221 CHIME syndrome skos:exactMatch mesh:C536729 semapv:UnspecifiedMatching MONDO:0010222 X-linked Opitz G/BBB syndrome skos:exactMatch OMIM:300000 opitz gbbb syndrome semapv:UnspecifiedMatching MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency skos:exactMatch OMIM:300001 ichthyosis, x-linked, without steroid sulfatase deficiency semapv:UnspecifiedMatching MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency skos:exactMatch UMLS:C1848387 semapv:UnspecifiedMatching MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency skos:exactMatch mesh:C564729 semapv:UnspecifiedMatching MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome semapv:UnspecifiedMatching MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia semapv:UnspecifiedMatching MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome semapv:UnspecifiedMatching MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch SCTID:763797003 semapv:UnspecifiedMatching MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch UMLS:C0796124 semapv:UnspecifiedMatching MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch mesh:C563110 semapv:UnspecifiedMatching MONDO:0010225 Dent disease type 1 skos:exactMatch DOID:0111798 X-linked nephrolithiasis type I semapv:UnspecifiedMatching MONDO:0010225 Dent disease type 1 skos:exactMatch OMIM:300009 dent disease 1 semapv:UnspecifiedMatching MONDO:0010225 Dent disease type 1 skos:exactMatch Orphanet:93622 Dent disease type 1 semapv:UnspecifiedMatching MONDO:0010225 Dent disease type 1 skos:exactMatch SCTID:717789008 semapv:UnspecifiedMatching MONDO:0010225 Dent disease type 1 skos:exactMatch UMLS:C1848336 semapv:UnspecifiedMatching MONDO:0010226 46,XY sex reversal 2 skos:exactMatch DOID:0111777 46,XY sex reversal 2 semapv:UnspecifiedMatching MONDO:0010226 46,XY sex reversal 2 skos:exactMatch OMIM:300018 46,xy sex reversal 2 semapv:UnspecifiedMatching MONDO:0010226 46,XY sex reversal 2 skos:exactMatch UMLS:C1848296 semapv:UnspecifiedMatching MONDO:0010226 46,XY sex reversal 2 skos:exactMatch mesh:C535601 semapv:UnspecifiedMatching MONDO:0010227 retinitis pigmentosa 3 skos:exactMatch DOID:0110414 retinitis pigmentosa 3 semapv:UnspecifiedMatching MONDO:0010227 retinitis pigmentosa 3 skos:exactMatch OMIM:300029 retinitis pigmentosa 3 semapv:UnspecifiedMatching MONDO:0010227 retinitis pigmentosa 3 skos:exactMatch UMLS:C1845667 semapv:UnspecifiedMatching MONDO:0010227 retinitis pigmentosa 3 skos:exactMatch mesh:C564520 semapv:UnspecifiedMatching MONDO:0010228 hearing loss, X-linked 3 skos:exactMatch DOID:0111736 X-linked deafness 3 semapv:UnspecifiedMatching MONDO:0010228 hearing loss, X-linked 3 skos:exactMatch OMIM:300030 deafness, X-linked 3 semapv:UnspecifiedMatching MONDO:0010228 hearing loss, X-linked 3 skos:exactMatch mesh:C564727 semapv:UnspecifiedMatching MONDO:0010229 alopecia, congenital skos:exactMatch NCIT:C35790 Congenital Alopecia semapv:UnspecifiedMatching MONDO:0010229 alopecia, congenital skos:exactMatch OMIM:300042 alopecia, congenital semapv:UnspecifiedMatching MONDO:0010229 alopecia, congenital skos:exactMatch SCTID:2965006 semapv:UnspecifiedMatching MONDO:0010229 alopecia, congenital skos:exactMatch mesh:C535981 semapv:UnspecifiedMatching MONDO:0010230 intellectual disability, X-linked 23 skos:exactMatch DOID:0112049 non-syndromic X-linked intellectual disability 23 semapv:UnspecifiedMatching MONDO:0010230 intellectual disability, X-linked 23 skos:exactMatch OMIM:300046 intellectual developmental disorder, X-linked 23 semapv:UnspecifiedMatching MONDO:0010230 intellectual disability, X-linked 23 skos:exactMatch UMLS:C0796229 semapv:UnspecifiedMatching MONDO:0010230 intellectual disability, X-linked 23 skos:exactMatch mesh:C563144 semapv:UnspecifiedMatching MONDO:0010231 intellectual disability, X-linked 20 skos:exactMatch DOID:0112023 non-syndromic X-linked intellectual disability 20 semapv:UnspecifiedMatching MONDO:0010231 intellectual disability, X-linked 20 skos:exactMatch OMIM:300047 intellectual developmental disorder, X-linked 20 semapv:UnspecifiedMatching MONDO:0010231 intellectual disability, X-linked 20 skos:exactMatch UMLS:C0796226 semapv:UnspecifiedMatching MONDO:0010231 intellectual disability, X-linked 20 skos:exactMatch mesh:C563142 semapv:UnspecifiedMatching MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:exactMatch DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction semapv:UnspecifiedMatching MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:exactMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:UnspecifiedMatching MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:exactMatch mesh:C535532 semapv:UnspecifiedMatching MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:exactMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:UnspecifiedMatching MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:exactMatch SCTID:448227009 semapv:UnspecifiedMatching MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:exactMatch DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:UnspecifiedMatching MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:exactMatch OMIM:300055 intellectual developmental disorder, x-linked, syndromic 13 semapv:UnspecifiedMatching MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:exactMatch Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:UnspecifiedMatching MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:exactMatch SCTID:702356009 semapv:UnspecifiedMatching MONDO:0010236 intellectual disability, X-linked 14 skos:exactMatch DOID:0112027 non-syndromic X-linked intellectual disability 14 semapv:UnspecifiedMatching MONDO:0010236 intellectual disability, X-linked 14 skos:exactMatch OMIM:300062 intellectual developmental disorder, X-linked 14 semapv:UnspecifiedMatching MONDO:0010236 intellectual disability, X-linked 14 skos:exactMatch mesh:C537454 semapv:UnspecifiedMatching MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:exactMatch OMIM:300064 mental retardation, x-linked, with craniofacial dysmorphism semapv:UnspecifiedMatching MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:exactMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:UnspecifiedMatching MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:exactMatch SCTID:719812008 semapv:UnspecifiedMatching MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:exactMatch UMLS:C2931516 semapv:UnspecifiedMatching MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:exactMatch mesh:C537512 semapv:UnspecifiedMatching MONDO:0010238 hearing loss, X-linked 4 skos:exactMatch DOID:0111735 X-linked deafness 4 semapv:UnspecifiedMatching MONDO:0010238 hearing loss, X-linked 4 skos:exactMatch OMIM:300066 deafness, X-linked 4 semapv:UnspecifiedMatching MONDO:0010238 hearing loss, X-linked 4 skos:exactMatch UMLS:C1848204 semapv:UnspecifiedMatching MONDO:0010238 hearing loss, X-linked 4 skos:exactMatch mesh:C564723 semapv:UnspecifiedMatching MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch DOID:0112239 X-linked lissencephaly 1 semapv:UnspecifiedMatching MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:UnspecifiedMatching MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation semapv:UnspecifiedMatching MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch SCTID:715780008 semapv:UnspecifiedMatching MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch UMLS:C4551968 semapv:UnspecifiedMatching MONDO:0010241 congenital stationary night blindness 2A skos:exactMatch DOID:0110871 congenital stationary night blindness 2A semapv:UnspecifiedMatching MONDO:0010241 congenital stationary night blindness 2A skos:exactMatch OMIM:300071 night blindness, congenital stationary, iia 2a semapv:UnspecifiedMatching MONDO:0010241 congenital stationary night blindness 2A skos:exactMatch UMLS:C1848172 semapv:UnspecifiedMatching MONDO:0010242 fetal akinesia syndrome, X-linked skos:exactMatch DOID:0081043 fetal akinesia deformation sequence syndrome X-linked semapv:UnspecifiedMatching MONDO:0010242 fetal akinesia syndrome, X-linked skos:exactMatch OMIM:300073 fetal akinesia syndrome, X-linked semapv:UnspecifiedMatching MONDO:0010242 fetal akinesia syndrome, X-linked skos:exactMatch UMLS:C1848171 semapv:UnspecifiedMatching MONDO:0010242 fetal akinesia syndrome, X-linked skos:exactMatch mesh:C537921 semapv:UnspecifiedMatching MONDO:0010243 X-linked immunoneurologic disorder skos:exactMatch OMIM:300076 immunoneurologic disorder, X-linked semapv:UnspecifiedMatching MONDO:0010243 X-linked immunoneurologic disorder skos:exactMatch Orphanet:2571 X-linked immunoneurologic disorder semapv:UnspecifiedMatching MONDO:0010243 X-linked immunoneurologic disorder skos:exactMatch SCTID:719827008 semapv:UnspecifiedMatching MONDO:0010243 X-linked immunoneurologic disorder skos:exactMatch UMLS:C1848144 semapv:UnspecifiedMatching MONDO:0010243 X-linked immunoneurologic disorder skos:exactMatch mesh:C536743 semapv:UnspecifiedMatching MONDO:0010244 CGF1 skos:exactMatch OMIM:300082 cognitive function 1, social semapv:UnspecifiedMatching MONDO:0010244 CGF1 skos:exactMatch UMLS:C1848140 semapv:UnspecifiedMatching MONDO:0010245 X-linked cone-rod dystrophy 2 skos:exactMatch DOID:0111006 X-linked cone-rod dystrophy 2 semapv:UnspecifiedMatching MONDO:0010245 X-linked cone-rod dystrophy 2 skos:exactMatch OMIM:300085 cone-rod dystrophy, x-linked, 2 semapv:UnspecifiedMatching MONDO:0010245 X-linked cone-rod dystrophy 2 skos:exactMatch mesh:C564717 semapv:UnspecifiedMatching MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:exactMatch DOID:0060848 developmental and epileptic encephalopathy 9 semapv:UnspecifiedMatching MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:exactMatch OMIM:300088 developmental and epileptic encephalopathy 9 semapv:UnspecifiedMatching MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:exactMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:UnspecifiedMatching MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:exactMatch UMLS:C1848137 semapv:UnspecifiedMatching MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:exactMatch mesh:C564715 semapv:UnspecifiedMatching MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:exactMatch Orphanet:139396 X-linked cerebral adrenoleukodystrophy semapv:UnspecifiedMatching MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:exactMatch UMLS:C2026514 semapv:UnspecifiedMatching MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch DOID:0112150 X-linked spondyloepimetaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch OMIM:300106 spondyloepimetaphyseal dysplasia, X-linked semapv:UnspecifiedMatching MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch UMLS:C1848097 semapv:UnspecifiedMatching MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch mesh:C564714 semapv:UnspecifiedMatching MONDO:0010250 intellectual disability, X-linked 49 skos:exactMatch DOID:0112060 Raynaud-Claes syndrome semapv:UnspecifiedMatching MONDO:0010250 intellectual disability, X-linked 49 skos:exactMatch OMIM:300114 raynaud-claes syndrome semapv:UnspecifiedMatching MONDO:0010250 intellectual disability, X-linked 49 skos:exactMatch Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010251 intellectual disability, X-linked 50 skos:exactMatch DOID:0112029 non-syndromic X-linked intellectual disability 50 semapv:UnspecifiedMatching MONDO:0010251 intellectual disability, X-linked 50 skos:exactMatch OMIM:300115 intellectual developmental disorder, X-linked 50 semapv:UnspecifiedMatching MONDO:0010251 intellectual disability, X-linked 50 skos:exactMatch UMLS:C1848087 semapv:UnspecifiedMatching MONDO:0010251 intellectual disability, X-linked 50 skos:exactMatch mesh:C564713 semapv:UnspecifiedMatching MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:exactMatch OMIM:300123 intellectual developmental disorder, x-linked, with panhypopituitarism semapv:UnspecifiedMatching MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:exactMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0010254 obsolete hematopoietic stem cell kinetics, control of skos:exactMatch OMIM:300129 hematopoietic stem cell kinetics, control of semapv:UnspecifiedMatching MONDO:0010255 diabetes mellitus, insulin-dependent, X-linked, susceptibility to skos:exactMatch OMIM:300136 iia 1 diabetes mellitus, x-linked, susceptibility to semapv:UnspecifiedMatching MONDO:0010255 diabetes mellitus, insulin-dependent, X-linked, susceptibility to skos:exactMatch UMLS:C1848042 semapv:UnspecifiedMatching MONDO:0010256 intellectual disability, X-linked 21 skos:exactMatch DOID:0112022 non-syndromic X-linked intellectual disability 21 semapv:UnspecifiedMatching MONDO:0010256 intellectual disability, X-linked 21 skos:exactMatch OMIM:300143 intellectual developmental disorder, X-linked 21 semapv:UnspecifiedMatching MONDO:0010257 prostate cancer, hereditary, X-linked 1 skos:exactMatch OMIM:300147 prostate cancer, hereditary, X-linked 1 semapv:UnspecifiedMatching MONDO:0010257 prostate cancer, hereditary, X-linked 1 skos:exactMatch UMLS:C1846279 semapv:UnspecifiedMatching MONDO:0010258 MEHMO syndrome skos:exactMatch DOID:0060801 MEHMO syndrome semapv:UnspecifiedMatching MONDO:0010258 MEHMO syndrome skos:exactMatch OMIM:300148 mehmo syndrome semapv:UnspecifiedMatching MONDO:0010258 MEHMO syndrome skos:exactMatch Orphanet:85282 MEHMO syndrome semapv:UnspecifiedMatching MONDO:0010258 MEHMO syndrome skos:exactMatch SCTID:722037004 semapv:UnspecifiedMatching MONDO:0010258 MEHMO syndrome skos:exactMatch UMLS:C1846278 semapv:UnspecifiedMatching MONDO:0010258 MEHMO syndrome skos:exactMatch mesh:C537451 semapv:UnspecifiedMatching MONDO:0010259 retinitis pigmentosa 24 skos:exactMatch DOID:0110416 retinitis pigmentosa 24 semapv:UnspecifiedMatching MONDO:0010259 retinitis pigmentosa 24 skos:exactMatch OMIM:300155 retinitis pigmentosa 24 semapv:UnspecifiedMatching MONDO:0010259 retinitis pigmentosa 24 skos:exactMatch UMLS:C3887982 semapv:UnspecifiedMatching MONDO:0010260 arthrogryposis, congenital, lower limb, X-linked skos:exactMatch OMIM:300158 arthrogryposis, congenital, lower limb, X-linked semapv:UnspecifiedMatching MONDO:0010260 arthrogryposis, congenital, lower limb, X-linked skos:exactMatch UMLS:C1846273 semapv:UnspecifiedMatching MONDO:0010260 arthrogryposis, congenital, lower limb, X-linked skos:exactMatch mesh:C564574 semapv:UnspecifiedMatching MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch DOID:0111809 syndromic microphthalmia 2 semapv:UnspecifiedMatching MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch OMIM:300166 microphthalmia, syndromic 2 semapv:UnspecifiedMatching MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch Orphanet:2712 Oculofaciocardiodental syndrome semapv:UnspecifiedMatching MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch SCTID:699300009 semapv:UnspecifiedMatching MONDO:0010262 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses skos:exactMatch OMIM:300184 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses semapv:UnspecifiedMatching MONDO:0010262 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses skos:exactMatch UMLS:C1970936 semapv:UnspecifiedMatching MONDO:0010262 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses skos:exactMatch mesh:C537159 semapv:UnspecifiedMatching MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch DOID:0111860 AMME complex semapv:UnspecifiedMatching MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch OMIM:300194 amme complex semapv:UnspecifiedMatching MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:UnspecifiedMatching MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch SCTID:720982007 semapv:UnspecifiedMatching MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch UMLS:C1846242 semapv:UnspecifiedMatching MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch mesh:C564570 semapv:UnspecifiedMatching MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch DOID:0080156 X-linked adrenal hypoplasia congenita semapv:UnspecifiedMatching MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch NCIT:C123725 X-Linked Adrenal Hypoplasia Congenita semapv:UnspecifiedMatching MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch OMIM:300200 adrenal hypoplasia, congenital semapv:UnspecifiedMatching MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:UnspecifiedMatching MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch SCTID:93235007 semapv:UnspecifiedMatching MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch UMLS:C0342482 semapv:UnspecifiedMatching MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 skos:exactMatch DOID:0080342 Simpson-Golabi-Behmel syndrome type 2 semapv:UnspecifiedMatching MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 skos:exactMatch OMIM:300209 simpson-golabi-behmel syndrome, iia 2 semapv:UnspecifiedMatching MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 skos:exactMatch UMLS:C1846175 semapv:UnspecifiedMatching MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 skos:exactMatch mesh:C564567 semapv:UnspecifiedMatching MONDO:0010266 intellectual disability, X-linked 58 skos:exactMatch DOID:0112024 non-syndromic X-linked intellectual disability 58 semapv:UnspecifiedMatching MONDO:0010266 intellectual disability, X-linked 58 skos:exactMatch OMIM:300210 intellectual developmental disorder, X-linked 58 semapv:UnspecifiedMatching MONDO:0010266 intellectual disability, X-linked 58 skos:exactMatch UMLS:C1846174 semapv:UnspecifiedMatching MONDO:0010266 intellectual disability, X-linked 58 skos:exactMatch mesh:C564566 semapv:UnspecifiedMatching MONDO:0010267 episodic muscle weakness, X-linked skos:exactMatch OMIM:300211 episodic muscle weakness, X-linked semapv:UnspecifiedMatching MONDO:0010267 episodic muscle weakness, X-linked skos:exactMatch UMLS:C1846173 semapv:UnspecifiedMatching MONDO:0010267 episodic muscle weakness, X-linked skos:exactMatch mesh:C564565 semapv:UnspecifiedMatching MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:UnspecifiedMatching MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:UnspecifiedMatching MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch Orphanet:452 X-linked lissencephaly with abnormal genitalia semapv:UnspecifiedMatching MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch SCTID:717632002 semapv:UnspecifiedMatching MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch mesh:C564563 semapv:UnspecifiedMatching MONDO:0010269 Coats disease skos:exactMatch DOID:7765 Coats disease semapv:UnspecifiedMatching MONDO:0010269 Coats disease skos:exactMatch OMIM:300216 coats disease semapv:UnspecifiedMatching MONDO:0010269 Coats disease skos:exactMatch Orphanet:190 Coats disease semapv:UnspecifiedMatching MONDO:0010269 Coats disease skos:exactMatch SCTID:360455002 semapv:UnspecifiedMatching MONDO:0010269 Coats disease skos:exactMatch UMLS:C0154832 semapv:UnspecifiedMatching MONDO:0010269 Coats disease skos:exactMatch mesh:D058456 semapv:UnspecifiedMatching MONDO:0010270 syndromic X-linked intellectual disability 7 skos:exactMatch DOID:0060808 syndromic X-linked intellectual disability 7 semapv:UnspecifiedMatching MONDO:0010270 syndromic X-linked intellectual disability 7 skos:exactMatch OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 semapv:UnspecifiedMatching MONDO:0010270 syndromic X-linked intellectual disability 7 skos:exactMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:UnspecifiedMatching MONDO:0010270 syndromic X-linked intellectual disability 7 skos:exactMatch SCTID:719160009 semapv:UnspecifiedMatching MONDO:0010270 syndromic X-linked intellectual disability 7 skos:exactMatch UMLS:C1846170 semapv:UnspecifiedMatching MONDO:0010270 syndromic X-linked intellectual disability 7 skos:exactMatch mesh:C537449 semapv:UnspecifiedMatching MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:exactMatch OMIM:300219 myotubular myopathy with abnormal genital development semapv:UnspecifiedMatching MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:exactMatch Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome semapv:UnspecifiedMatching MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:exactMatch UMLS:C1846169 semapv:UnspecifiedMatching MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:exactMatch mesh:C564561 semapv:UnspecifiedMatching MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal skos:exactMatch OMIM:300221 lymphoma, hodgkin, X-linked pseudoautosomal semapv:UnspecifiedMatching MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal skos:exactMatch mesh:C538326 semapv:UnspecifiedMatching MONDO:0010274 testicular germ cell tumor 1 skos:exactMatch OMIM:300228 testicular germ cell tumor 1 semapv:UnspecifiedMatching MONDO:0010274 testicular germ cell tumor 1 skos:exactMatch UMLS:C1846164 semapv:UnspecifiedMatching MONDO:0010274 testicular germ cell tumor 1 skos:exactMatch mesh:C564559 semapv:UnspecifiedMatching MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:exactMatch OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy semapv:UnspecifiedMatching MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:exactMatch Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:exactMatch UMLS:C1846148 semapv:UnspecifiedMatching MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:exactMatch mesh:C536671 semapv:UnspecifiedMatching MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:exactMatch mesh:C567065 semapv:UnspecifiedMatching MONDO:0010276 radioulnar synostosis, radial ray abnormalities, and severe malformations in the male skos:exactMatch OMIM:300233 radioulnar synostosis, radial ray abnormalities, and severe malformations 1n the male semapv:UnspecifiedMatching MONDO:0010276 radioulnar synostosis, radial ray abnormalities, and severe malformations in the male skos:exactMatch UMLS:C1846147 semapv:UnspecifiedMatching MONDO:0010276 radioulnar synostosis, radial ray abnormalities, and severe malformations in the male skos:exactMatch mesh:C564557 semapv:UnspecifiedMatching MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:exactMatch DOID:0060826 syndromic X-linked intellectual disability Shashi type semapv:UnspecifiedMatching MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:exactMatch OMIM:300238 intellectual developmental disorder, x-linked, syndromic 11 semapv:UnspecifiedMatching MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:exactMatch Orphanet:85286 X-linked intellectual disability, Shashi type semapv:UnspecifiedMatching MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:exactMatch SCTID:718900002 semapv:UnspecifiedMatching MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:exactMatch UMLS:C1846145 semapv:UnspecifiedMatching MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:exactMatch mesh:C537135 semapv:UnspecifiedMatching MONDO:0010278 Christianson syndrome skos:exactMatch DOID:0060825 Christianson syndrome semapv:UnspecifiedMatching MONDO:0010278 Christianson syndrome skos:exactMatch OMIM:300243 intellectual developmental disorder, x-linked, syndromic, christianson iia semapv:UnspecifiedMatching MONDO:0010278 Christianson syndrome skos:exactMatch Orphanet:85278 Christianson syndrome semapv:UnspecifiedMatching MONDO:0010278 Christianson syndrome skos:exactMatch SCTID:702354007 semapv:UnspecifiedMatching MONDO:0010278 Christianson syndrome skos:exactMatch UMLS:C2678194 semapv:UnspecifiedMatching MONDO:0010278 Christianson syndrome skos:exactMatch mesh:C567484 semapv:UnspecifiedMatching MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:exactMatch DOID:0112149 terminal osseous dysplasia semapv:UnspecifiedMatching MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:exactMatch OMIM:300244 terminal osseous dysplasia semapv:UnspecifiedMatching MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:exactMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:UnspecifiedMatching MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:exactMatch UMLS:C1846129 semapv:UnspecifiedMatching MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:exactMatch mesh:C564554 semapv:UnspecifiedMatching MONDO:0010280 ptosis, hereditary congenital 2 skos:exactMatch OMIM:300245 ptosis, hereditary congenital 2 semapv:UnspecifiedMatching MONDO:0010280 ptosis, hereditary congenital 2 skos:exactMatch UMLS:C1846128 semapv:UnspecifiedMatching MONDO:0010280 ptosis, hereditary congenital 2 skos:exactMatch mesh:C564553 semapv:UnspecifiedMatching MONDO:0010281 Danon disease skos:exactMatch DOID:0050437 Danon disease semapv:UnspecifiedMatching MONDO:0010281 Danon disease skos:exactMatch NCIT:C84735 Glycogen Storage Disease Type IIb semapv:UnspecifiedMatching MONDO:0010281 Danon disease skos:exactMatch OMIM:300257 danon disease semapv:UnspecifiedMatching MONDO:0010281 Danon disease skos:exactMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:UnspecifiedMatching MONDO:0010281 Danon disease skos:exactMatch SCTID:419097006 semapv:UnspecifiedMatching MONDO:0010281 Danon disease skos:exactMatch UMLS:C0878677 semapv:UnspecifiedMatching MONDO:0010281 Danon disease skos:exactMatch mesh:D052120 semapv:UnspecifiedMatching MONDO:0010282 mycobacterium tuberculosis, susceptibility to, X-linked skos:exactMatch OMIM:300259 mycobacterium tuberculosis, susceptibility to, X-linked semapv:UnspecifiedMatching MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch DOID:0060799 syndromic X-linked intellectual disability Lubs type semapv:UnspecifiedMatching MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch NCIT:C126747 Lubs X-Linked Mental Retardation Syndrome semapv:UnspecifiedMatching MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch OMIM:300260 intellectual developmental disorder, x-linked, syndromic, lubs iia semapv:UnspecifiedMatching MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:UnspecifiedMatching MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch SCTID:702816000 semapv:UnspecifiedMatching MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch UMLS:C1846058 semapv:UnspecifiedMatching MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch mesh:C537723 semapv:UnspecifiedMatching MONDO:0010284 Armfield syndrome skos:exactMatch DOID:0050764 Armfield syndrome semapv:UnspecifiedMatching MONDO:0010284 Armfield syndrome skos:exactMatch OMIM:300261 intellectual developmental disorder, x-linked, syndromic, armfield iia semapv:UnspecifiedMatching MONDO:0010284 Armfield syndrome skos:exactMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:UnspecifiedMatching MONDO:0010284 Armfield syndrome skos:exactMatch SCTID:719017003 semapv:UnspecifiedMatching MONDO:0010284 Armfield syndrome skos:exactMatch UMLS:C1846057 semapv:UnspecifiedMatching MONDO:0010284 Armfield syndrome skos:exactMatch mesh:C564551 semapv:UnspecifiedMatching MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:exactMatch DOID:0060818 syndromic X-linked intellectual disability Abidi type semapv:UnspecifiedMatching MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:exactMatch OMIM:300262 intellectual developmental disorder, x-linked, syndromic, abidi iia semapv:UnspecifiedMatching MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:exactMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:UnspecifiedMatching MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:exactMatch UMLS:C1846056 semapv:UnspecifiedMatching MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:exactMatch mesh:C535556 semapv:UnspecifiedMatching MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:exactMatch DOID:0060812 syndromic X-linked intellectual disability Siderius type semapv:UnspecifiedMatching MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:exactMatch OMIM:300263 intellectual developmental disorder, x-linked, syndromic, siderius iia semapv:UnspecifiedMatching MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:exactMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:UnspecifiedMatching MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:exactMatch UMLS:C1846055 semapv:UnspecifiedMatching MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:exactMatch mesh:C537333 semapv:UnspecifiedMatching MONDO:0010287 hereditary spastic paraplegia 16 skos:exactMatch DOID:0110769 hereditary spastic paraplegia 16 semapv:UnspecifiedMatching MONDO:0010287 hereditary spastic paraplegia 16 skos:exactMatch OMIM:300266 spastic paraplegia 16, X-linked semapv:UnspecifiedMatching MONDO:0010287 hereditary spastic paraplegia 16 skos:exactMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:UnspecifiedMatching MONDO:0010287 hereditary spastic paraplegia 16 skos:exactMatch UMLS:C1846046 semapv:UnspecifiedMatching MONDO:0010287 hereditary spastic paraplegia 16 skos:exactMatch mesh:C536643 semapv:UnspecifiedMatching MONDO:0010288 adrenomyodystrophy skos:exactMatch OMIM:300270 adrenomyodystrophy semapv:UnspecifiedMatching MONDO:0010288 adrenomyodystrophy skos:exactMatch Orphanet:977 Adrenomyodystrophy semapv:UnspecifiedMatching MONDO:0010288 adrenomyodystrophy skos:exactMatch SCTID:763311001 semapv:UnspecifiedMatching MONDO:0010288 adrenomyodystrophy skos:exactMatch UMLS:C1846044 semapv:UnspecifiedMatching MONDO:0010288 adrenomyodystrophy skos:exactMatch mesh:C538051 semapv:UnspecifiedMatching MONDO:0010289 intellectual disability, X-linked 72 skos:exactMatch DOID:0112059 non-syndromic X-linked intellectual disability 72 semapv:UnspecifiedMatching MONDO:0010289 intellectual disability, X-linked 72 skos:exactMatch OMIM:300271 intellectual developmental disorder, X-linked 72 semapv:UnspecifiedMatching MONDO:0010289 intellectual disability, X-linked 72 skos:exactMatch UMLS:C1846038 semapv:UnspecifiedMatching MONDO:0010289 intellectual disability, X-linked 72 skos:exactMatch mesh:C564547 semapv:UnspecifiedMatching MONDO:0010290 goiter, multinodular 2 skos:exactMatch OMIM:300273 goiter, multinodular 2 semapv:UnspecifiedMatching MONDO:0010290 goiter, multinodular 2 skos:exactMatch UMLS:C1846033 semapv:UnspecifiedMatching MONDO:0010290 goiter, multinodular 2 skos:exactMatch mesh:C564546 semapv:UnspecifiedMatching MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency skos:exactMatch OMIM:300274 semapv:UnspecifiedMatching MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:exactMatch DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome semapv:UnspecifiedMatching MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:exactMatch OMIM:300280 uruguay faciocardiomusculoskeletal syndrome semapv:UnspecifiedMatching MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:exactMatch UMLS:C1846010 semapv:UnspecifiedMatching MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:exactMatch mesh:C564544 semapv:UnspecifiedMatching MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch DOID:0081077 ectodermal dysplasia and immune deficiency semapv:UnspecifiedMatching MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch NCIT:C118844 Ectodermal Dysplasia and Immunodeficiency semapv:UnspecifiedMatching MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch OMIMPS:300291 semapv:UnspecifiedMatching MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:UnspecifiedMatching MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch SCTID:703525006 semapv:UnspecifiedMatching MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch UMLS:C1846006 semapv:UnspecifiedMatching MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch mesh:C536181 semapv:UnspecifiedMatching MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch DOID:0112128 X-linked severe congenital neutropenia semapv:UnspecifiedMatching MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:UnspecifiedMatching MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch Orphanet:86788 X-linked severe congenital neutropenia semapv:UnspecifiedMatching MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch SCTID:718882006 semapv:UnspecifiedMatching MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch UMLS:C1845987 semapv:UnspecifiedMatching MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch mesh:C564539 semapv:UnspecifiedMatching MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:exactMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:UnspecifiedMatching MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:exactMatch SCTID:720986005 semapv:UnspecifiedMatching MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:exactMatch mesh:C564538 semapv:UnspecifiedMatching MONDO:0010296 immunodeficiency 61 skos:exactMatch DOID:0111999 immunodeficiency 61 semapv:UnspecifiedMatching MONDO:0010296 immunodeficiency 61 skos:exactMatch OMIM:300310 immunodeficiency 61 semapv:UnspecifiedMatching MONDO:0010296 immunodeficiency 61 skos:exactMatch UMLS:C1845903 semapv:UnspecifiedMatching MONDO:0010296 immunodeficiency 61 skos:exactMatch mesh:C538057 semapv:UnspecifiedMatching MONDO:0010297 FG syndrome 2 skos:exactMatch OMIM:300321 fg syndrome 2 semapv:UnspecifiedMatching MONDO:0010297 FG syndrome 2 skos:exactMatch UMLS:C1845902 semapv:UnspecifiedMatching MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch DOID:1919 Lesch-Nyhan syndrome semapv:UnspecifiedMatching MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch ICD10CM:E79.1 Lesch-Nyhan syndrome semapv:UnspecifiedMatching MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch NCIT:C61255 Lesch-Nyhan Syndrome semapv:UnspecifiedMatching MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch OMIM:300322 lesch-nyhan syndrome semapv:UnspecifiedMatching MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch Orphanet:510 Lesch-Nyhan syndrome semapv:UnspecifiedMatching MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch SCTID:10406007 semapv:UnspecifiedMatching MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch UMLS:C0023374 semapv:UnspecifiedMatching MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch mesh:D007926 semapv:UnspecifiedMatching MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:UnspecifiedMatching MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch OMIM:300323 hyperuricemia, hprt-related semapv:UnspecifiedMatching MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:UnspecifiedMatching MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch SCTID:238007004 semapv:UnspecifiedMatching MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch UMLS:C0268117 semapv:UnspecifiedMatching MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch mesh:C562583 semapv:UnspecifiedMatching MONDO:0010300 intellectual disability, X-linked 53 skos:exactMatch DOID:0112047 non-syndromic X-linked intellectual disability 53 semapv:UnspecifiedMatching MONDO:0010300 intellectual disability, X-linked 53 skos:exactMatch OMIM:300324 intellectual developmental disorder, X-linked 53 semapv:UnspecifiedMatching MONDO:0010300 intellectual disability, X-linked 53 skos:exactMatch UMLS:C1845889 semapv:UnspecifiedMatching MONDO:0010300 intellectual disability, X-linked 53 skos:exactMatch mesh:C564533 semapv:UnspecifiedMatching MONDO:0010302 Ito hypomelanosis skos:exactMatch DOID:3156 hypomelanosis of Ito semapv:UnspecifiedMatching MONDO:0010302 Ito hypomelanosis skos:exactMatch OMIM:300337 hypomelanosis of ito semapv:UnspecifiedMatching MONDO:0010302 Ito hypomelanosis skos:exactMatch UMLS:C0022283 semapv:UnspecifiedMatching MONDO:0010304 Graves disease, susceptibility to, X-linked 1 skos:exactMatch OMIM:300351 graves disease, susceptibility to, X-linked 1 semapv:UnspecifiedMatching MONDO:0010305 creatine transporter deficiency skos:exactMatch DOID:0050800 cerebral creatine deficiency syndrome 1 semapv:UnspecifiedMatching MONDO:0010305 creatine transporter deficiency skos:exactMatch NCIT:C125665 Cerebral Creatine Deficiency Syndrome 1 semapv:UnspecifiedMatching MONDO:0010305 creatine transporter deficiency skos:exactMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:UnspecifiedMatching MONDO:0010305 creatine transporter deficiency skos:exactMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:UnspecifiedMatching MONDO:0010305 creatine transporter deficiency skos:exactMatch SCTID:698290008 semapv:UnspecifiedMatching MONDO:0010305 creatine transporter deficiency skos:exactMatch mesh:C535598 semapv:UnspecifiedMatching MONDO:0010306 X-linked intellectual disability, Cabezas type skos:exactMatch DOID:0060822 syndromic X-linked intellectual disability Cabezas type semapv:UnspecifiedMatching MONDO:0010306 X-linked intellectual disability, Cabezas type skos:exactMatch OMIM:300354 intellectual developmental disorder, x-linked, syndromic, cabezas iia semapv:UnspecifiedMatching MONDO:0010306 X-linked intellectual disability, Cabezas type skos:exactMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:UnspecifiedMatching MONDO:0010306 X-linked intellectual disability, Cabezas type skos:exactMatch SCTID:719811001 semapv:UnspecifiedMatching MONDO:0010306 X-linked intellectual disability, Cabezas type skos:exactMatch UMLS:C1845861 semapv:UnspecifiedMatching MONDO:0010307 intellectual disability, X-linked 73 skos:exactMatch DOID:0112017 non-syndromic X-linked intellectual disability 73 semapv:UnspecifiedMatching MONDO:0010307 intellectual disability, X-linked 73 skos:exactMatch OMIM:300355 intellectual developmental disorder, X-linked 73 semapv:UnspecifiedMatching MONDO:0010307 intellectual disability, X-linked 73 skos:exactMatch UMLS:C1845860 semapv:UnspecifiedMatching MONDO:0010307 intellectual disability, X-linked 73 skos:exactMatch mesh:C564528 semapv:UnspecifiedMatching MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia skos:exactMatch NCIT:C136653 X-linked Thrombocytopenia, with or without Dyserythropoietic Anemia semapv:UnspecifiedMatching MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia skos:exactMatch OMIM:300367 thrombocytopenia, x-linked, with or without dyserythropoietic anemia semapv:UnspecifiedMatching MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia skos:exactMatch UMLS:C3550789 semapv:UnspecifiedMatching MONDO:0010309 intellectual disability, X-linked 42 skos:exactMatch DOID:0112057 non-syndromic X-linked intellectual disability 42 semapv:UnspecifiedMatching MONDO:0010309 intellectual disability, X-linked 42 skos:exactMatch OMIM:300372 intellectual developmental disorder, X-linked 42 semapv:UnspecifiedMatching MONDO:0010309 intellectual disability, X-linked 42 skos:exactMatch UMLS:C1845810 semapv:UnspecifiedMatching MONDO:0010309 intellectual disability, X-linked 42 skos:exactMatch mesh:C564524 semapv:UnspecifiedMatching MONDO:0010310 osteopathia striata with cranial sclerosis skos:exactMatch DOID:0060886 osteopathia striata with cranial sclerosis semapv:UnspecifiedMatching MONDO:0010310 osteopathia striata with cranial sclerosis skos:exactMatch OMIM:300373 osteopathia striata with cranial sclerosis semapv:UnspecifiedMatching MONDO:0010310 osteopathia striata with cranial sclerosis skos:exactMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:UnspecifiedMatching MONDO:0010310 osteopathia striata with cranial sclerosis skos:exactMatch SCTID:254129003 semapv:UnspecifiedMatching MONDO:0010310 osteopathia striata with cranial sclerosis skos:exactMatch UMLS:C0432268 semapv:UnspecifiedMatching MONDO:0010310 osteopathia striata with cranial sclerosis skos:exactMatch mesh:C536053 semapv:UnspecifiedMatching MONDO:0010311 Becker muscular dystrophy skos:exactMatch DOID:9883 Becker muscular dystrophy semapv:UnspecifiedMatching MONDO:0010311 Becker muscular dystrophy skos:exactMatch NCIT:C84587 Becker's Muscular Dystrophy semapv:UnspecifiedMatching MONDO:0010311 Becker muscular dystrophy skos:exactMatch OMIM:300376 muscular dystrophy, becker iia semapv:UnspecifiedMatching MONDO:0010311 Becker muscular dystrophy skos:exactMatch Orphanet:98895 Becker muscular dystrophy semapv:UnspecifiedMatching MONDO:0010311 Becker muscular dystrophy skos:exactMatch SCTID:387732009 semapv:UnspecifiedMatching MONDO:0010311 Becker muscular dystrophy skos:exactMatch UMLS:C0917713 semapv:UnspecifiedMatching MONDO:0010311 Becker muscular dystrophy skos:exactMatch mesh:C570377 semapv:UnspecifiedMatching MONDO:0010312 radial ray deficiency, X-linked skos:exactMatch OMIM:300378 radial ray deficiency, X-linked semapv:UnspecifiedMatching MONDO:0010312 radial ray deficiency, X-linked skos:exactMatch UMLS:C1845717 semapv:UnspecifiedMatching MONDO:0010312 radial ray deficiency, X-linked skos:exactMatch mesh:C564523 semapv:UnspecifiedMatching MONDO:0010313 intellectual disability, X-linked 63 skos:exactMatch DOID:0112050 non-syndromic X-linked intellectual disability 63 semapv:UnspecifiedMatching MONDO:0010313 intellectual disability, X-linked 63 skos:exactMatch OMIM:300387 intellectual developmental disorder, X-linked 63 semapv:UnspecifiedMatching MONDO:0010313 intellectual disability, X-linked 63 skos:exactMatch UMLS:C1845672 semapv:UnspecifiedMatching MONDO:0010313 intellectual disability, X-linked 63 skos:exactMatch mesh:C564522 semapv:UnspecifiedMatching MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:exactMatch OMIM:300388 polymicrogyria, bilateral perisylvian, X-linked semapv:UnspecifiedMatching MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:exactMatch SCTID:438583008 semapv:UnspecifiedMatching MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch DOID:0060013 X-linked severe combined immunodeficiency semapv:UnspecifiedMatching MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch NCIT:C4682 X-Linked Severe Combined Immunodeficiency semapv:UnspecifiedMatching MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:UnspecifiedMatching MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:UnspecifiedMatching MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch SCTID:203592006 semapv:UnspecifiedMatching MONDO:0010316 FG syndrome 3 skos:exactMatch OMIM:300406 fg syndrome 3 semapv:UnspecifiedMatching MONDO:0010316 FG syndrome 3 skos:exactMatch UMLS:C1845567 semapv:UnspecifiedMatching MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:exactMatch DOID:0112021 non-syndromic X-linked intellectual disability ARX-related semapv:UnspecifiedMatching MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:exactMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:UnspecifiedMatching MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:exactMatch UMLS:C0796244 semapv:UnspecifiedMatching MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:exactMatch mesh:C563150 semapv:UnspecifiedMatching MONDO:0010318 FG syndrome 4 skos:exactMatch OMIM:300422 fg syndrome 4 semapv:UnspecifiedMatching MONDO:0010318 FG syndrome 4 skos:exactMatch UMLS:C1845546 semapv:UnspecifiedMatching MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:exactMatch DOID:0060806 syndromic X-linked intellectual disability Hedera type semapv:UnspecifiedMatching MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:exactMatch OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia semapv:UnspecifiedMatching MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:exactMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:UnspecifiedMatching MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:exactMatch UMLS:C1845543 semapv:UnspecifiedMatching MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:exactMatch mesh:C564516 semapv:UnspecifiedMatching MONDO:0010320 retinitis pigmentosa 23 skos:exactMatch DOID:0110412 retinitis pigmentosa 23 semapv:UnspecifiedMatching MONDO:0010320 retinitis pigmentosa 23 skos:exactMatch OMIM:300424 retinitis pigmentosa 23 semapv:UnspecifiedMatching MONDO:0010320 retinitis pigmentosa 23 skos:exactMatch UMLS:C1419610 semapv:UnspecifiedMatching MONDO:0010321 autism, susceptibility to, X-linked 1 skos:exactMatch OMIM:300425 autism, susceptibility to, X-linked 1 semapv:UnspecifiedMatching MONDO:0010322 intellectual disability, X-linked 2 skos:exactMatch DOID:0112016 non-syndromic X-linked intellectual disability 2 semapv:UnspecifiedMatching MONDO:0010322 intellectual disability, X-linked 2 skos:exactMatch OMIM:300428 intellectual developmental disorder, X-linked 2 semapv:UnspecifiedMatching MONDO:0010322 intellectual disability, X-linked 2 skos:exactMatch UMLS:C0796207 semapv:UnspecifiedMatching MONDO:0010322 intellectual disability, X-linked 2 skos:exactMatch mesh:C563135 semapv:UnspecifiedMatching MONDO:0010323 Atkin-Flaitz syndrome skos:exactMatch OMIM:300431 atkin-flaitz syndrome semapv:UnspecifiedMatching MONDO:0010323 Atkin-Flaitz syndrome skos:exactMatch Orphanet:1193 Atkin-Flaitz syndrome semapv:UnspecifiedMatching MONDO:0010323 Atkin-Flaitz syndrome skos:exactMatch SCTID:718577005 semapv:UnspecifiedMatching MONDO:0010324 intellectual disability, X-linked 81 skos:exactMatch DOID:0112033 non-syndromic X-linked intellectual disability 81 semapv:UnspecifiedMatching MONDO:0010324 intellectual disability, X-linked 81 skos:exactMatch OMIM:300433 intellectual developmental disorder, X-linked 81 semapv:UnspecifiedMatching MONDO:0010324 intellectual disability, X-linked 81 skos:exactMatch UMLS:C1845531 semapv:UnspecifiedMatching MONDO:0010324 intellectual disability, X-linked 81 skos:exactMatch mesh:C564515 semapv:UnspecifiedMatching MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:exactMatch DOID:0112126 Stocco Dos Santos type X-linked intellectual disability semapv:UnspecifiedMatching MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:exactMatch OMIM:300434 intellectual developmental disorder, x-linked, syndromic, stocco dos santos iia semapv:UnspecifiedMatching MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:exactMatch Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type semapv:UnspecifiedMatching MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:exactMatch SCTID:718910006 semapv:UnspecifiedMatching MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:exactMatch UMLS:C1845530 semapv:UnspecifiedMatching MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:exactMatch mesh:C537495 semapv:UnspecifiedMatching MONDO:0010326 intellectual disability, X-linked 46 skos:exactMatch DOID:0112055 non-syndromic X-linked intellectual disability 46 semapv:UnspecifiedMatching MONDO:0010326 intellectual disability, X-linked 46 skos:exactMatch OMIM:300436 intellectual developmental disorder, X-linked 46 semapv:UnspecifiedMatching MONDO:0010326 intellectual disability, X-linked 46 skos:exactMatch UMLS:C1845526 semapv:UnspecifiedMatching MONDO:0010326 intellectual disability, X-linked 46 skos:exactMatch mesh:C564513 semapv:UnspecifiedMatching MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch DOID:0060810 syndromic X-linked intellectual disability type 10 semapv:UnspecifiedMatching MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch OMIM:300438 hsd10 mitochondrial disease semapv:UnspecifiedMatching MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch Orphanet:391417 HSD10 disease semapv:UnspecifiedMatching MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch SCTID:791000124107 semapv:UnspecifiedMatching MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch UMLS:C3266731 semapv:UnspecifiedMatching MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch mesh:C536080 semapv:UnspecifiedMatching MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch mesh:C564560 semapv:UnspecifiedMatching MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch DOID:0112125 alpha-thalassemia myelodysplasia syndrome semapv:UnspecifiedMatching MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch OMIM:300448 alpha-thalassemia myelodysplasia syndrome semapv:UnspecifiedMatching MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:UnspecifiedMatching MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch SCTID:307343001 semapv:UnspecifiedMatching MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch UMLS:C0585216 semapv:UnspecifiedMatching MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch mesh:C563023 semapv:UnspecifiedMatching MONDO:0010329 intellectual disability, X-linked 77 skos:exactMatch DOID:0112039 non-syndromic X-linked intellectual disability 77 semapv:UnspecifiedMatching MONDO:0010329 intellectual disability, X-linked 77 skos:exactMatch OMIM:300454 intellectual developmental disorder, X-linked 77 semapv:UnspecifiedMatching MONDO:0010329 intellectual disability, X-linked 77 skos:exactMatch UMLS:C1845499 semapv:UnspecifiedMatching MONDO:0010329 intellectual disability, X-linked 77 skos:exactMatch mesh:C564511 semapv:UnspecifiedMatching MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome skos:exactMatch DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections semapv:UnspecifiedMatching MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome skos:exactMatch OMIM:300455 retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness semapv:UnspecifiedMatching MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome skos:exactMatch Orphanet:247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome semapv:UnspecifiedMatching MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome skos:exactMatch UMLS:C2749137 semapv:UnspecifiedMatching MONDO:0010330 obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome skos:exactMatch mesh:C567595 semapv:UnspecifiedMatching MONDO:0010331 coronary heart disease, susceptibility to, 3 skos:exactMatch OMIM:300464 coronary heart disease, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:exactMatch OMIM:300471 cubitus valgus with impaired intellectual development and unusual facies semapv:UnspecifiedMatching MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:exactMatch Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:exactMatch UMLS:C5677056 semapv:UnspecifiedMatching MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:exactMatch mesh:C564510 semapv:UnspecifiedMatching MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:exactMatch DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome semapv:UnspecifiedMatching MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:exactMatch OMIM:300472 corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathia semapv:UnspecifiedMatching MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:exactMatch Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome semapv:UnspecifiedMatching MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:exactMatch SCTID:722282008 semapv:UnspecifiedMatching MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:exactMatch mesh:C564509 semapv:UnspecifiedMatching MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:exactMatch DOID:0112123 deafness, dystonia, and cerebral hypomyelination semapv:UnspecifiedMatching MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:exactMatch OMIM:300475 deafness, dystonia, and cerebral hypomyelination semapv:UnspecifiedMatching MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:exactMatch Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome semapv:UnspecifiedMatching MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:exactMatch UMLS:C3806634 semapv:UnspecifiedMatching MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:exactMatch mesh:C564508 semapv:UnspecifiedMatching MONDO:0010335 X-linked cone-rod dystrophy 3 skos:exactMatch DOID:0111007 X-linked cone-rod dystrophy 3 semapv:UnspecifiedMatching MONDO:0010335 X-linked cone-rod dystrophy 3 skos:exactMatch OMIM:300476 cone-rod dystrophy, x-linked, 3 semapv:UnspecifiedMatching MONDO:0010335 X-linked cone-rod dystrophy 3 skos:exactMatch mesh:C564507 semapv:UnspecifiedMatching MONDO:0010336 orofaciodigital syndrome VIII skos:exactMatch DOID:0060378 orofaciodigital syndrome VIII semapv:UnspecifiedMatching MONDO:0010336 orofaciodigital syndrome VIII skos:exactMatch OMIM:300484 orofaciodigital syndrome 8 semapv:UnspecifiedMatching MONDO:0010336 orofaciodigital syndrome VIII skos:exactMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:UnspecifiedMatching MONDO:0010336 orofaciodigital syndrome VIII skos:exactMatch SCTID:722106001 semapv:UnspecifiedMatching MONDO:0010336 orofaciodigital syndrome VIII skos:exactMatch mesh:C557820 semapv:UnspecifiedMatching MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:exactMatch DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance semapv:UnspecifiedMatching MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:exactMatch OMIM:300486 intellectual developmental disorder, x-linked, syndromic, billuart iia semapv:UnspecifiedMatching MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:exactMatch Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome semapv:UnspecifiedMatching MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:exactMatch SCTID:719136005 semapv:UnspecifiedMatching MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:exactMatch mesh:C537456 semapv:UnspecifiedMatching MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:exactMatch DOID:0111196 X-linked distal spinal muscular atrophy 3 semapv:UnspecifiedMatching MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:exactMatch OMIM:300489 neuronopathy, distal hereditary motor, X-linked semapv:UnspecifiedMatching MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:exactMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:UnspecifiedMatching MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:exactMatch SCTID:766764008 semapv:UnspecifiedMatching MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:exactMatch UMLS:C1845359 semapv:UnspecifiedMatching MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:exactMatch mesh:C564506 semapv:UnspecifiedMatching MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:exactMatch DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders semapv:UnspecifiedMatching MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:exactMatch OMIM:300491 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders semapv:UnspecifiedMatching MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:exactMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:UnspecifiedMatching MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:exactMatch UMLS:C5774177 semapv:UnspecifiedMatching MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:exactMatch mesh:C564505 semapv:UnspecifiedMatching MONDO:0010340 Asperger syndrome, X-linked, susceptibility to, 1 skos:exactMatch UMLS:C1845341 semapv:UnspecifiedMatching MONDO:0010341 autism, susceptibility to, X-linked 2 skos:exactMatch OMIM:300495 autism, susceptibility to, X-linked 2 semapv:UnspecifiedMatching MONDO:0010341 autism, susceptibility to, X-linked 2 skos:exactMatch mesh:D038901 semapv:UnspecifiedMatching MONDO:0010342 autism, susceptibility to, X-linked 3 skos:exactMatch OMIM:300496 autism, susceptibility to, X-linked 3 semapv:UnspecifiedMatching MONDO:0010344 intellectual disability, X-linked 45 skos:exactMatch DOID:0112028 non-syndromic X-linked intellectual disability 45 semapv:UnspecifiedMatching MONDO:0010344 intellectual disability, X-linked 45 skos:exactMatch OMIM:300498 intellectual developmental disorder, X-linked 45 semapv:UnspecifiedMatching MONDO:0010344 intellectual disability, X-linked 45 skos:exactMatch UMLS:C1845333 semapv:UnspecifiedMatching MONDO:0010344 intellectual disability, X-linked 45 skos:exactMatch mesh:C564503 semapv:UnspecifiedMatching MONDO:0010346 obsolete MRX52 skos:exactMatch OMIM:300504 semapv:UnspecifiedMatching MONDO:0010347 intellectual disability, X-linked 84 skos:exactMatch DOID:0112030 non-syndromic X-linked intellectual disability 84 semapv:UnspecifiedMatching MONDO:0010347 intellectual disability, X-linked 84 skos:exactMatch OMIM:300505 intellectual developmental disorder, X-linked 84 semapv:UnspecifiedMatching MONDO:0010347 intellectual disability, X-linked 84 skos:exactMatch UMLS:C1845297 semapv:UnspecifiedMatching MONDO:0010347 intellectual disability, X-linked 84 skos:exactMatch mesh:C564501 semapv:UnspecifiedMatching MONDO:0010348 dyslexia, susceptibility to, 9 skos:exactMatch OMIM:300509 dyslexia, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0010349 ovarian dysgenesis 2 skos:exactMatch DOID:0080494 ovarian dysgenesis 2 semapv:UnspecifiedMatching MONDO:0010349 ovarian dysgenesis 2 skos:exactMatch DOID:0080861 primary ovarian insufficiency 4 semapv:UnspecifiedMatching MONDO:0010349 ovarian dysgenesis 2 skos:exactMatch OMIM:300510 ovarian dysgenesis 2 semapv:UnspecifiedMatching MONDO:0010349 ovarian dysgenesis 2 skos:exactMatch UMLS:C1845294 semapv:UnspecifiedMatching MONDO:0010349 ovarian dysgenesis 2 skos:exactMatch mesh:C564499 semapv:UnspecifiedMatching MONDO:0010350 premature ovarian failure 2A skos:exactMatch DOID:0080858 primary ovarian insufficiency 2A semapv:UnspecifiedMatching MONDO:0010350 premature ovarian failure 2A skos:exactMatch OMIM:300511 premature ovarian failure 2a semapv:UnspecifiedMatching MONDO:0010350 premature ovarian failure 2A skos:exactMatch UMLS:C1845293 semapv:UnspecifiedMatching MONDO:0010350 premature ovarian failure 2A skos:exactMatch mesh:C564498 semapv:UnspecifiedMatching MONDO:0010351 Fanconi anemia complementation group B skos:exactMatch DOID:0111098 Fanconi anemia complementation group B semapv:UnspecifiedMatching MONDO:0010351 Fanconi anemia complementation group B skos:exactMatch NCIT:C125703 Fanconi Anemia, Complementation Group B semapv:UnspecifiedMatching MONDO:0010351 Fanconi anemia complementation group B skos:exactMatch OMIM:300514 fanconi anemia, complementation group B semapv:UnspecifiedMatching MONDO:0010351 Fanconi anemia complementation group B skos:exactMatch UMLS:C1845292 semapv:UnspecifiedMatching MONDO:0010351 Fanconi anemia complementation group B skos:exactMatch mesh:C564497 semapv:UnspecifiedMatching MONDO:0010352 intellectual disability, X-linked 82 skos:exactMatch DOID:0112052 non-syndromic X-linked intellectual disability 82 semapv:UnspecifiedMatching MONDO:0010352 intellectual disability, X-linked 82 skos:exactMatch OMIM:300518 intellectual developmental disorder, X-linked 82 semapv:UnspecifiedMatching MONDO:0010352 intellectual disability, X-linked 82 skos:exactMatch UMLS:C1845286 semapv:UnspecifiedMatching MONDO:0010352 intellectual disability, X-linked 82 skos:exactMatch mesh:C564496 semapv:UnspecifiedMatching MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:exactMatch DOID:0060830 deafness-intellectual disability, Martin-Probst type syndrome semapv:UnspecifiedMatching MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:exactMatch OMIM:300519 martin-probst syndrome semapv:UnspecifiedMatching MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:exactMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:UnspecifiedMatching MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:exactMatch SCTID:721087008 semapv:UnspecifiedMatching MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:exactMatch mesh:C564495 semapv:UnspecifiedMatching MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch DOID:0050631 Allan-Herndon-Dudley syndrome semapv:UnspecifiedMatching MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch NCIT:C118843 Allan-Herndon-Dudley Syndrome semapv:UnspecifiedMatching MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch OMIM:300523 allan-herndon-dudley syndrome semapv:UnspecifiedMatching MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:UnspecifiedMatching MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch SCTID:702327009 semapv:UnspecifiedMatching MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch UMLS:C0795889 semapv:UnspecifiedMatching MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch mesh:C537047 semapv:UnspecifiedMatching MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:exactMatch DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type semapv:UnspecifiedMatching MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:exactMatch OMIM:300534 intellectual developmental disorder, x-linked, syndromic, claes-jensen iia semapv:UnspecifiedMatching MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:exactMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:UnspecifiedMatching MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:exactMatch SCTID:719161008 semapv:UnspecifiedMatching MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:exactMatch UMLS:C1845243 semapv:UnspecifiedMatching MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:exactMatch mesh:C564494 semapv:UnspecifiedMatching MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis semapv:UnspecifiedMatching MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch OMIM:300539 nephrogenic syndrome of inappropriate antidiuresis semapv:UnspecifiedMatching MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis semapv:UnspecifiedMatching MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch SCTID:723440000 semapv:UnspecifiedMatching MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch UMLS:C1845202 semapv:UnspecifiedMatching MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch mesh:C564491 semapv:UnspecifiedMatching MONDO:0010357 obsolete MRX78 skos:exactMatch OMIM:300551 semapv:UnspecifiedMatching MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:exactMatch DOID:0080353 X-linked recessive hypophosphatemic rickets semapv:UnspecifiedMatching MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:exactMatch OMIM:300554 hypophosphatemic rickets, X-linked recessive semapv:UnspecifiedMatching MONDO:0010359 Dent disease type 2 skos:exactMatch OMIM:300555 dent disease 2 semapv:UnspecifiedMatching MONDO:0010359 Dent disease type 2 skos:exactMatch Orphanet:93623 Dent disease type 2 semapv:UnspecifiedMatching MONDO:0010359 Dent disease type 2 skos:exactMatch SCTID:717790004 semapv:UnspecifiedMatching MONDO:0010359 Dent disease type 2 skos:exactMatch UMLS:C1845167 semapv:UnspecifiedMatching MONDO:0010359 Dent disease type 2 skos:exactMatch mesh:C564487 semapv:UnspecifiedMatching MONDO:0010360 parkinson disease 12 skos:exactMatch OMIM:300557 parkinson disease 12 semapv:UnspecifiedMatching MONDO:0010360 parkinson disease 12 skos:exactMatch UMLS:C1845165 semapv:UnspecifiedMatching MONDO:0010360 parkinson disease 12 skos:exactMatch mesh:C564486 semapv:UnspecifiedMatching MONDO:0010361 intellectual disability, X-linked 30 skos:exactMatch DOID:0112051 non-syndromic X-linked intellectual disability 30 semapv:UnspecifiedMatching MONDO:0010361 intellectual disability, X-linked 30 skos:exactMatch OMIM:300558 intellectual developmental disorder, X-linked 30 semapv:UnspecifiedMatching MONDO:0010361 intellectual disability, X-linked 30 skos:exactMatch UMLS:C0796237 semapv:UnspecifiedMatching MONDO:0010362 glycogen storage disease IXd skos:exactMatch DOID:0111040 glycogen storage disease IXd semapv:UnspecifiedMatching MONDO:0010362 glycogen storage disease IXd skos:exactMatch OMIM:300559 glycogen storage disease ixd semapv:UnspecifiedMatching MONDO:0010362 glycogen storage disease IXd skos:exactMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:UnspecifiedMatching MONDO:0010362 glycogen storage disease IXd skos:exactMatch mesh:C564485 semapv:UnspecifiedMatching MONDO:0010363 intellectual disability, X-linked 91 skos:exactMatch DOID:0112043 non-syndromic X-linked intellectual disability 91 semapv:UnspecifiedMatching MONDO:0010363 intellectual disability, X-linked 91 skos:exactMatch OMIM:300577 intellectual developmental disorder, X-linked 91 semapv:UnspecifiedMatching MONDO:0010363 intellectual disability, X-linked 91 skos:exactMatch UMLS:C1845142 semapv:UnspecifiedMatching MONDO:0010363 intellectual disability, X-linked 91 skos:exactMatch mesh:C564482 semapv:UnspecifiedMatching MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:exactMatch OMIM:300578 chromosome xp11.3 deletion syndrome semapv:UnspecifiedMatching MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:exactMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:UnspecifiedMatching MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:exactMatch SCTID:719808002 semapv:UnspecifiedMatching MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:exactMatch UMLS:C1845136 semapv:UnspecifiedMatching MONDO:0010365 myopathy, congenital, with fiber-type disproportion, X-linked skos:exactMatch DOID:0111226 X-linked congenital myopathy with fiber-type disproportion semapv:UnspecifiedMatching MONDO:0010365 myopathy, congenital, with fiber-type disproportion, X-linked skos:exactMatch OMIM:300580 myopathy, congenital, with fiber-type disproportion, X-linked semapv:UnspecifiedMatching MONDO:0010365 myopathy, congenital, with fiber-type disproportion, X-linked skos:exactMatch UMLS:C2749128 semapv:UnspecifiedMatching MONDO:0010365 myopathy, congenital, with fiber-type disproportion, X-linked skos:exactMatch mesh:C567594 semapv:UnspecifiedMatching MONDO:0010366 FG syndrome 5 skos:exactMatch OMIM:300581 fg syndrome 5 semapv:UnspecifiedMatching MONDO:0010366 FG syndrome 5 skos:exactMatch UMLS:C1845119 semapv:UnspecifiedMatching MONDO:0010366 FG syndrome 5 skos:exactMatch mesh:C564480 semapv:UnspecifiedMatching MONDO:0010367 SHOX-related short stature skos:exactMatch DOID:0112120 SHOX-related short stature semapv:UnspecifiedMatching MONDO:0010367 SHOX-related short stature skos:exactMatch OMIM:300582 short stature, idiopathic, X-linked semapv:UnspecifiedMatching MONDO:0010367 SHOX-related short stature skos:exactMatch Orphanet:314795 SHOX-related short stature semapv:UnspecifiedMatching MONDO:0010367 SHOX-related short stature skos:exactMatch SCTID:763868006 semapv:UnspecifiedMatching MONDO:0010367 SHOX-related short stature skos:exactMatch mesh:C564479 semapv:UnspecifiedMatching MONDO:0010369 nystagmus 5, congenital, X-linked skos:exactMatch DOID:0111796 congenital nystagmus 5 semapv:UnspecifiedMatching MONDO:0010369 nystagmus 5, congenital, X-linked skos:exactMatch OMIM:300589 nystagmus 5, congenital, X-linked semapv:UnspecifiedMatching MONDO:0010369 nystagmus 5, congenital, X-linked skos:exactMatch UMLS:C1845116 semapv:UnspecifiedMatching MONDO:0010370 Cornelia de Lange syndrome 2 skos:exactMatch DOID:0080506 Cornelia de Lange syndrome 2 semapv:UnspecifiedMatching MONDO:0010370 Cornelia de Lange syndrome 2 skos:exactMatch NCIT:C75485 X-Linked Cornelia De Lange Syndrome semapv:UnspecifiedMatching MONDO:0010370 Cornelia de Lange syndrome 2 skos:exactMatch OMIM:300590 cornelia lange lange syndrome 2 semapv:UnspecifiedMatching MONDO:0010370 Cornelia de Lange syndrome 2 skos:exactMatch UMLS:C1802395 semapv:UnspecifiedMatching MONDO:0010371 Aland island eye disease skos:exactMatch DOID:0050630 Aland Island eye disease semapv:UnspecifiedMatching MONDO:0010371 Aland island eye disease skos:exactMatch OMIM:300600 aland island eye disease semapv:UnspecifiedMatching MONDO:0010371 Aland island eye disease skos:exactMatch Orphanet:178333 Åland Islands eye disease semapv:UnspecifiedMatching MONDO:0010371 Aland island eye disease skos:exactMatch SCTID:266455006 semapv:UnspecifiedMatching MONDO:0010371 Aland island eye disease skos:exactMatch UMLS:C0268505 semapv:UnspecifiedMatching MONDO:0010371 Aland island eye disease skos:exactMatch mesh:C562664 semapv:UnspecifiedMatching MONDO:0010373 premature ovarian failure 2B skos:exactMatch DOID:0080859 primary ovarian insufficiency 2B semapv:UnspecifiedMatching MONDO:0010373 premature ovarian failure 2B skos:exactMatch OMIM:300604 premature ovarian failure 2b semapv:UnspecifiedMatching MONDO:0010373 premature ovarian failure 2B skos:exactMatch UMLS:C1845105 semapv:UnspecifiedMatching MONDO:0010373 premature ovarian failure 2B skos:exactMatch mesh:C564476 semapv:UnspecifiedMatching MONDO:0010374 retinitis pigmentosa 34 skos:exactMatch DOID:0110417 retinitis pigmentosa 34 semapv:UnspecifiedMatching MONDO:0010374 retinitis pigmentosa 34 skos:exactMatch OMIM:300605 retinitis pigmentosa 34 semapv:UnspecifiedMatching MONDO:0010374 retinitis pigmentosa 34 skos:exactMatch UMLS:C1845104 semapv:UnspecifiedMatching MONDO:0010374 retinitis pigmentosa 34 skos:exactMatch mesh:C564475 semapv:UnspecifiedMatching MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:exactMatch DOID:0080215 developmental and epileptic encephalopathy 8 semapv:UnspecifiedMatching MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:exactMatch OMIM:300607 developmental and epileptic encephalopathy 8 semapv:UnspecifiedMatching MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:exactMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:UnspecifiedMatching MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:exactMatch UMLS:C1845102 semapv:UnspecifiedMatching MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:exactMatch mesh:C564474 semapv:UnspecifiedMatching MONDO:0010377 myopia 13, X-linked skos:exactMatch OMIM:300613 myopia 13, X-linked semapv:UnspecifiedMatching MONDO:0010377 myopia 13, X-linked skos:exactMatch UMLS:C1845096 semapv:UnspecifiedMatching MONDO:0010377 myopia 13, X-linked skos:exactMatch mesh:C564473 semapv:UnspecifiedMatching MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch DOID:0111741 X-linked deafness 5 semapv:UnspecifiedMatching MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch OMIM:300614 deafness, X-linked 5, with peripheral neuropathy semapv:UnspecifiedMatching MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:UnspecifiedMatching MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch SCTID:719838008 semapv:UnspecifiedMatching MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch UMLS:C4304400 semapv:UnspecifiedMatching MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch mesh:C564472 semapv:UnspecifiedMatching MONDO:0010379 Brunner syndrome skos:exactMatch DOID:0060693 Brunner Syndrome semapv:UnspecifiedMatching MONDO:0010379 Brunner syndrome skos:exactMatch OMIM:300615 brunner syndrome semapv:UnspecifiedMatching MONDO:0010379 Brunner syndrome skos:exactMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:UnspecifiedMatching MONDO:0010379 Brunner syndrome skos:exactMatch SCTID:718210003 semapv:UnspecifiedMatching MONDO:0010379 Brunner syndrome skos:exactMatch UMLS:C0796275 semapv:UnspecifiedMatching MONDO:0010379 Brunner syndrome skos:exactMatch mesh:C563156 semapv:UnspecifiedMatching MONDO:0010380 cataract, ataxia, short stature, and intellectual disability skos:exactMatch OMIM:300619 cataract, ataxia, short stature, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0010380 cataract, ataxia, short stature, and intellectual disability skos:exactMatch UMLS:C1845094 semapv:UnspecifiedMatching MONDO:0010380 cataract, ataxia, short stature, and intellectual disability skos:exactMatch mesh:C535345 semapv:UnspecifiedMatching MONDO:0010381 Tn polyagglutination syndrome skos:exactMatch DOID:0080520 Tn polyagglutination syndrome semapv:UnspecifiedMatching MONDO:0010381 Tn polyagglutination syndrome skos:exactMatch OMIM:300622 tn polyagglutination syndrome semapv:UnspecifiedMatching MONDO:0010381 Tn polyagglutination syndrome skos:exactMatch UMLS:C0272137 semapv:UnspecifiedMatching MONDO:0010381 Tn polyagglutination syndrome skos:exactMatch mesh:C562719 semapv:UnspecifiedMatching MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch DOID:0050879 fragile X-associated tremor/ataxia syndrome semapv:UnspecifiedMatching MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch NCIT:C126566 Fragile X Tremor/Ataxia Syndrome semapv:UnspecifiedMatching MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch OMIM:300623 fragile 10 tremor/ataxia syndrome semapv:UnspecifiedMatching MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch Orphanet:93256 Fragile X-associated tremor/ataxia syndrome semapv:UnspecifiedMatching MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch SCTID:448045004 semapv:UnspecifiedMatching MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch UMLS:C1839780 semapv:UnspecifiedMatching MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch mesh:C564105 semapv:UnspecifiedMatching MONDO:0010383 fragile X syndrome skos:exactMatch DOID:14261 fragile X syndrome semapv:UnspecifiedMatching MONDO:0010383 fragile X syndrome skos:exactMatch NCIT:C84717 Fragile X Syndrome semapv:UnspecifiedMatching MONDO:0010383 fragile X syndrome skos:exactMatch OMIM:300624 fragile 10 syndrome semapv:UnspecifiedMatching MONDO:0010383 fragile X syndrome skos:exactMatch Orphanet:908 Fragile X syndrome semapv:UnspecifiedMatching MONDO:0010383 fragile X syndrome skos:exactMatch SCTID:613003 semapv:UnspecifiedMatching MONDO:0010383 fragile X syndrome skos:exactMatch UMLS:C0016667 semapv:UnspecifiedMatching MONDO:0010383 fragile X syndrome skos:exactMatch mesh:D005600 semapv:UnspecifiedMatching MONDO:0010384 hypospadias 1, X-linked skos:exactMatch OMIM:300633 hypospadias 1, X-linked semapv:UnspecifiedMatching MONDO:0010384 hypospadias 1, X-linked skos:exactMatch UMLS:C2678098 semapv:UnspecifiedMatching MONDO:0010384 hypospadias 1, X-linked skos:exactMatch mesh:C567482 semapv:UnspecifiedMatching MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:exactMatch DOID:0060706 X-linked lymphoproliferative syndrome 2 semapv:UnspecifiedMatching MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:exactMatch NCIT:C126295 X-linked Lymphoproliferative Syndrome 2 semapv:UnspecifiedMatching MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:exactMatch OMIM:300635 lymphoproliferative syndrome, x-linked, 2 semapv:UnspecifiedMatching MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:exactMatch Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency semapv:UnspecifiedMatching MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:exactMatch UMLS:C1845076 semapv:UnspecifiedMatching MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:exactMatch mesh:C564469 semapv:UnspecifiedMatching MONDO:0010386 immunodeficiency 33 skos:exactMatch DOID:0112003 immunodeficiency 33 semapv:UnspecifiedMatching MONDO:0010386 immunodeficiency 33 skos:exactMatch OMIM:300636 immunodeficiency 33 semapv:UnspecifiedMatching MONDO:0010386 immunodeficiency 33 skos:exactMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:UnspecifiedMatching MONDO:0010386 immunodeficiency 33 skos:exactMatch UMLS:C1970879 semapv:UnspecifiedMatching MONDO:0010386 immunodeficiency 33 skos:exactMatch mesh:C536289 semapv:UnspecifiedMatching MONDO:0010387 obsolete invasive pneumococcal disease, recurrent isolated, 2 skos:exactMatch OMIM:300640 semapv:UnspecifiedMatching MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:exactMatch OMIM:300643 rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked semapv:UnspecifiedMatching MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:exactMatch UMLS:C1845070 semapv:UnspecifiedMatching MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:exactMatch mesh:C564467 semapv:UnspecifiedMatching MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch DOID:0112000 immunodeficiency 34 semapv:UnspecifiedMatching MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch OMIM:300645 immunodeficiency 34 semapv:UnspecifiedMatching MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:UnspecifiedMatching MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch UMLS:C1970859 semapv:UnspecifiedMatching MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch mesh:C567068 semapv:UnspecifiedMatching MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:exactMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:UnspecifiedMatching MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:exactMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:UnspecifiedMatching MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:exactMatch SCTID:722054007 semapv:UnspecifiedMatching MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:exactMatch UMLS:C1845069 semapv:UnspecifiedMatching MONDO:0010391 angioma serpiginosum, X-linked skos:exactMatch OMIM:300652 angioma serpiginosum, X-linked semapv:UnspecifiedMatching MONDO:0010391 angioma serpiginosum, X-linked skos:exactMatch mesh:C536366 semapv:UnspecifiedMatching MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:UnspecifiedMatching MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch NCIT:C126738 Phosphoglycerate Kinase 1 Deficiency semapv:UnspecifiedMatching MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch OMIM:300653 phosphoglycerate kinase 1 deficiency semapv:UnspecifiedMatching MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:UnspecifiedMatching MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch UMLS:C1970848 semapv:UnspecifiedMatching MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch mesh:C567067 semapv:UnspecifiedMatching MONDO:0010393 intellectual disability, X-linked 93 skos:exactMatch DOID:0112045 non-syndromic X-linked intellectual disability 93 semapv:UnspecifiedMatching MONDO:0010393 intellectual disability, X-linked 93 skos:exactMatch OMIM:300659 intellectual developmental disorder, X-linked 93 semapv:UnspecifiedMatching MONDO:0010393 intellectual disability, X-linked 93 skos:exactMatch UMLS:C1970841 semapv:UnspecifiedMatching MONDO:0010393 intellectual disability, X-linked 93 skos:exactMatch mesh:C567066 semapv:UnspecifiedMatching MONDO:0010394 obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome skos:exactMatch OMIM:300660 semapv:UnspecifiedMatching MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity semapv:UnspecifiedMatching MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch OMIM:300661 phosphoribosylpyrophosphate synthetase superactivity semapv:UnspecifiedMatching MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:UnspecifiedMatching MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch SCTID:723454008 semapv:UnspecifiedMatching MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch UMLS:C1970827 semapv:UnspecifiedMatching MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch mesh:C567064 semapv:UnspecifiedMatching MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:exactMatch DOID:0080467 developmental and epileptic encephalopathy 2 semapv:UnspecifiedMatching MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:exactMatch OMIM:300672 developmental and epileptic encephalopathy 2 semapv:UnspecifiedMatching MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:exactMatch Orphanet:505652 CDKL5-deficiency disorder semapv:UnspecifiedMatching MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:exactMatch mesh:C564064 semapv:UnspecifiedMatching MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch DOID:0111932 severe congenital encephalopathy due to MECP2 mutation semapv:UnspecifiedMatching MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch NCIT:C132293 Severe Neonatal Encephalopathy Due to MECP2 Mutations semapv:UnspecifiedMatching MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch OMIM:300673 encephalopathy, neonatal severe, due to mecp2 mutations semapv:UnspecifiedMatching MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly semapv:UnspecifiedMatching MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch UMLS:C1968556 semapv:UnspecifiedMatching MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch mesh:C566878 semapv:UnspecifiedMatching MONDO:0010398 syndromic X-linked intellectual disability 14 skos:exactMatch DOID:0060821 syndromic X-linked intellectual disability 14 semapv:UnspecifiedMatching MONDO:0010398 syndromic X-linked intellectual disability 14 skos:exactMatch OMIM:300676 intellectual developmental disorder, x-linked, syndromic 14 semapv:UnspecifiedMatching MONDO:0010398 syndromic X-linked intellectual disability 14 skos:exactMatch UMLS:C1970822 semapv:UnspecifiedMatching MONDO:0010398 syndromic X-linked intellectual disability 14 skos:exactMatch mesh:C567063 semapv:UnspecifiedMatching MONDO:0010399 chromosome Xp21 deletion syndrome skos:exactMatch DOID:0060427 chromosome Xp21 deletion syndrome semapv:UnspecifiedMatching MONDO:0010399 chromosome Xp21 deletion syndrome skos:exactMatch OMIM:300679 chromosome xp21 deletion syndrome semapv:UnspecifiedMatching MONDO:0010399 chromosome Xp21 deletion syndrome skos:exactMatch Orphanet:261476 Xp21 deletion syndrome semapv:UnspecifiedMatching MONDO:0010399 chromosome Xp21 deletion syndrome skos:exactMatch SCTID:297257004 semapv:UnspecifiedMatching MONDO:0010399 chromosome Xp21 deletion syndrome skos:exactMatch UMLS:C0795887 semapv:UnspecifiedMatching MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:exactMatch OMIM:300695 scapuloperoneal myopathy, X-linked dominant semapv:UnspecifiedMatching MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:exactMatch Orphanet:431272 X-linked scapuloperoneal muscular dystrophy semapv:UnspecifiedMatching MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:exactMatch UMLS:C2678061 semapv:UnspecifiedMatching MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:exactMatch DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 semapv:UnspecifiedMatching MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:exactMatch OMIM:300696 myopathy, x-linked, with postural muscle atrophy semapv:UnspecifiedMatching MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:exactMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:UnspecifiedMatching MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:exactMatch UMLS:C2678055 semapv:UnspecifiedMatching MONDO:0010402 syndromic X-linked intellectual disability 94 skos:exactMatch DOID:0060823 syndromic X-linked intellectual disability 94 semapv:UnspecifiedMatching MONDO:0010402 syndromic X-linked intellectual disability 94 skos:exactMatch OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu iia semapv:UnspecifiedMatching MONDO:0010402 syndromic X-linked intellectual disability 94 skos:exactMatch UMLS:C2678051 semapv:UnspecifiedMatching MONDO:0010402 syndromic X-linked intellectual disability 94 skos:exactMatch mesh:C567479 semapv:UnspecifiedMatching MONDO:0010403 albinism-hearing loss syndrome skos:exactMatch OMIM:300700 albinism-deafness syndrome semapv:UnspecifiedMatching MONDO:0010403 albinism-hearing loss syndrome skos:exactMatch Orphanet:998 Albinism-deafness syndrome semapv:UnspecifiedMatching MONDO:0010403 albinism-hearing loss syndrome skos:exactMatch SCTID:722285005 semapv:UnspecifiedMatching MONDO:0010403 albinism-hearing loss syndrome skos:exactMatch SCTID:74320008 semapv:UnspecifiedMatching MONDO:0010403 albinism-hearing loss syndrome skos:exactMatch mesh:C537042 semapv:UnspecifiedMatching MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:UnspecifiedMatching MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch OMIM:300703 spinocerebellar ataxia, X-linked 5 semapv:UnspecifiedMatching MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:UnspecifiedMatching MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch SCTID:766818009 semapv:UnspecifiedMatching MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch UMLS:C2678048 semapv:UnspecifiedMatching MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch mesh:C567478 semapv:UnspecifiedMatching MONDO:0010405 prostate cancer, hereditary, X-linked 2 skos:exactMatch OMIM:300704 prostate cancer, hereditary, X-linked 2 semapv:UnspecifiedMatching MONDO:0010405 prostate cancer, hereditary, X-linked 2 skos:exactMatch UMLS:C2678047 semapv:UnspecifiedMatching MONDO:0010405 prostate cancer, hereditary, X-linked 2 skos:exactMatch mesh:C567477 semapv:UnspecifiedMatching MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:exactMatch DOID:0112037 chromosome Xp11.22 duplication syndrome semapv:UnspecifiedMatching MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:exactMatch OMIM:300705 chromosome xp11.22 duplication syndrome semapv:UnspecifiedMatching MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:exactMatch DOID:0060811 syndromic X-linked intellectual disability Turner type semapv:UnspecifiedMatching MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:exactMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia semapv:UnspecifiedMatching MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:exactMatch SCTID:725912001 semapv:UnspecifiedMatching MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:exactMatch UMLS:C2678046 semapv:UnspecifiedMatching MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:exactMatch mesh:C563154 semapv:UnspecifiedMatching MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:exactMatch mesh:C567476 semapv:UnspecifiedMatching MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:UnspecifiedMatching MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations semapv:UnspecifiedMatching MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:UnspecifiedMatching MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch SCTID:723581006 semapv:UnspecifiedMatching MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch UMLS:C2678045 semapv:UnspecifiedMatching MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch mesh:C567475 semapv:UnspecifiedMatching MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:exactMatch DOID:0060813 syndromic X-linked intellectual disability Shrimpton type semapv:UnspecifiedMatching MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:exactMatch OMIM:300709 intellectual developmental disorder, x-linked, syndromic 9 semapv:UnspecifiedMatching MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:exactMatch Orphanet:85324 X-linked intellectual disability, Shrimpton type semapv:UnspecifiedMatching MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:exactMatch UMLS:C2678039 semapv:UnspecifiedMatching MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:exactMatch mesh:C567474 semapv:UnspecifiedMatching MONDO:0010410 alopecia, androgenetic, 2 skos:exactMatch OMIM:300710 alopecia, androgenetic, 2 semapv:UnspecifiedMatching MONDO:0010410 alopecia, androgenetic, 2 skos:exactMatch UMLS:C2678038 semapv:UnspecifiedMatching MONDO:0010410 alopecia, androgenetic, 2 skos:exactMatch mesh:C567473 semapv:UnspecifiedMatching MONDO:0010411 pyloric stenosis, infantile hypertrophic, 4 skos:exactMatch OMIM:300711 pyloric stenosis, infantile hypertrophic, 4 semapv:UnspecifiedMatching MONDO:0010411 pyloric stenosis, infantile hypertrophic, 4 skos:exactMatch UMLS:C2678037 semapv:UnspecifiedMatching MONDO:0010411 pyloric stenosis, infantile hypertrophic, 4 skos:exactMatch mesh:C567472 semapv:UnspecifiedMatching MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:exactMatch OMIM:300712 craniofacioskeletal syndrome semapv:UnspecifiedMatching MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:exactMatch Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome semapv:UnspecifiedMatching MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:exactMatch UMLS:C2678036 semapv:UnspecifiedMatching MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:exactMatch mesh:C567471 semapv:UnspecifiedMatching MONDO:0010413 intellectual disability, X-linked 95 skos:exactMatch OMIM:300716 intellectual developmental disorder, X-linked 95 semapv:UnspecifiedMatching MONDO:0010413 intellectual disability, X-linked 95 skos:exactMatch UMLS:C2678034 semapv:UnspecifiedMatching MONDO:0010413 intellectual disability, X-linked 95 skos:exactMatch mesh:C567470 semapv:UnspecifiedMatching MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:exactMatch OMIM:300717 reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset semapv:UnspecifiedMatching MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:exactMatch UMLS:C4225423 semapv:UnspecifiedMatching MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:exactMatch mesh:C567469 semapv:UnspecifiedMatching MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:exactMatch DOID:0080687 reducing body myopathy 1B semapv:UnspecifiedMatching MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:exactMatch OMIM:300718 reducing body myopathy, X-linked 1b, with late childhood or adult onset semapv:UnspecifiedMatching MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:exactMatch UMLS:C4225159 semapv:UnspecifiedMatching MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:exactMatch mesh:C567468 semapv:UnspecifiedMatching MONDO:0010416 deafness, cataract, retinitis pigmentosa, and sperm abnormalities skos:exactMatch OMIM:300719 deafness, cataract, retinitis pigmentosa, and sperm abnormalities semapv:UnspecifiedMatching MONDO:0010416 deafness, cataract, retinitis pigmentosa, and sperm abnormalities skos:exactMatch UMLS:C2678011 semapv:UnspecifiedMatching MONDO:0010416 deafness, cataract, retinitis pigmentosa, and sperm abnormalities skos:exactMatch mesh:C567467 semapv:UnspecifiedMatching MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:exactMatch DOID:0060807 syndromic X-linked intellectual disability Najm type semapv:UnspecifiedMatching MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:exactMatch OMIM:300749 intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:exactMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:UnspecifiedMatching MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:exactMatch UMLS:C2677903 semapv:UnspecifiedMatching MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:exactMatch mesh:C567466 semapv:UnspecifiedMatching MONDO:0010418 hereditary spastic paraplegia 34 skos:exactMatch DOID:0110785 hereditary spastic paraplegia 34 semapv:UnspecifiedMatching MONDO:0010418 hereditary spastic paraplegia 34 skos:exactMatch OMIM:300750 spastic paraplegia 34, X-linked semapv:UnspecifiedMatching MONDO:0010418 hereditary spastic paraplegia 34 skos:exactMatch Orphanet:171607 X-linked spastic paraplegia type 34 semapv:UnspecifiedMatching MONDO:0010418 hereditary spastic paraplegia 34 skos:exactMatch SCTID:763370008 semapv:UnspecifiedMatching MONDO:0010418 hereditary spastic paraplegia 34 skos:exactMatch UMLS:C2677897 semapv:UnspecifiedMatching MONDO:0010418 hereditary spastic paraplegia 34 skos:exactMatch mesh:C567465 semapv:UnspecifiedMatching MONDO:0010420 X-linked erythropoietic protoporphyria skos:exactMatch OMIM:300752 protoporphyria, erythropoietic, X-linked semapv:UnspecifiedMatching MONDO:0010420 X-linked erythropoietic protoporphyria skos:exactMatch Orphanet:443197 X-linked erythropoietic protoporphyria semapv:UnspecifiedMatching MONDO:0010420 X-linked erythropoietic protoporphyria skos:exactMatch mesh:C567464 semapv:UnspecifiedMatching MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch DOID:14179 X-linked agammaglobulinemia semapv:UnspecifiedMatching MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch NCIT:C3822 X-Linked Agammaglobulinemia semapv:UnspecifiedMatching MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch OMIM:300755 agammaglobulinemia, X-linked semapv:UnspecifiedMatching MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch Orphanet:47 X-linked agammaglobulinemia semapv:UnspecifiedMatching MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch SCTID:65880007 semapv:UnspecifiedMatching MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch UMLS:C0221026 semapv:UnspecifiedMatching MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch mesh:C537409 semapv:UnspecifiedMatching MONDO:0010422 Alzheimer disease 16 skos:exactMatch DOID:0110036 Alzheimer's disease 16 semapv:UnspecifiedMatching MONDO:0010422 Alzheimer disease 16 skos:exactMatch OMIM:300756 alzheimer disease 16 semapv:UnspecifiedMatching MONDO:0010422 Alzheimer disease 16 skos:exactMatch UMLS:C2677888 semapv:UnspecifiedMatching MONDO:0010422 Alzheimer disease 16 skos:exactMatch mesh:C567463 semapv:UnspecifiedMatching MONDO:0010423 hypospadias 2, X-linked skos:exactMatch OMIM:300758 hypospadias 2, X-linked semapv:UnspecifiedMatching MONDO:0010423 hypospadias 2, X-linked skos:exactMatch UMLS:C2677879 semapv:UnspecifiedMatching MONDO:0010423 hypospadias 2, X-linked skos:exactMatch mesh:C567462 semapv:UnspecifiedMatching MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:exactMatch OMIM:300770 surfactant metabolism dysfunction, pulmonary, 4 semapv:UnspecifiedMatching MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:exactMatch UMLS:C2677877 semapv:UnspecifiedMatching MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:exactMatch mesh:C567461 semapv:UnspecifiedMatching MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch DOID:0060450 Lisch epithelial corneal dystrophy semapv:UnspecifiedMatching MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch OMIM:300778 corneal dystrophy, lisch epithelial semapv:UnspecifiedMatching MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:UnspecifiedMatching MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch SCTID:724175002 semapv:UnspecifiedMatching MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch UMLS:C2749050 semapv:UnspecifiedMatching MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch mesh:C567588 semapv:UnspecifiedMatching MONDO:0010426 X-linked endothelial corneal dystrophy skos:exactMatch DOID:0060446 X-linked endothelial corneal dystrophy semapv:UnspecifiedMatching MONDO:0010426 X-linked endothelial corneal dystrophy skos:exactMatch OMIM:300779 corneal dystrophy, endothelial, X-linked semapv:UnspecifiedMatching MONDO:0010426 X-linked endothelial corneal dystrophy skos:exactMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:UnspecifiedMatching MONDO:0010426 X-linked endothelial corneal dystrophy skos:exactMatch SCTID:718579008 semapv:UnspecifiedMatching MONDO:0010426 X-linked endothelial corneal dystrophy skos:exactMatch UMLS:C2749049 semapv:UnspecifiedMatching MONDO:0010426 X-linked endothelial corneal dystrophy skos:exactMatch mesh:C567587 semapv:UnspecifiedMatching MONDO:0010427 syndromic X-linked intellectual disability Raymond type skos:exactMatch DOID:0060824 syndromic X-linked intellectual disability Raymond type semapv:UnspecifiedMatching MONDO:0010427 syndromic X-linked intellectual disability Raymond type skos:exactMatch OMIM:300799 intellectual developmental disorder, x-linked, syndromic, raymond iia semapv:UnspecifiedMatching MONDO:0010427 syndromic X-linked intellectual disability Raymond type skos:exactMatch UMLS:C3275406 semapv:UnspecifiedMatching MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:exactMatch DOID:0060461 chromosome Xp11.23-p11.22 duplication syndrome semapv:UnspecifiedMatching MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:exactMatch OMIM:300801 chromosome xp11.23-p11.22 duplication syndrome semapv:UnspecifiedMatching MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:exactMatch Orphanet:217377 Microduplication Xp11.22p11.23 syndrome semapv:UnspecifiedMatching MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:exactMatch SCTID:721881008 semapv:UnspecifiedMatching MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:exactMatch mesh:C567585 semapv:UnspecifiedMatching MONDO:0010429 intellectual disability, X-linked 96 skos:exactMatch DOID:0112035 non-syndromic X-linked intellectual disability 96 semapv:UnspecifiedMatching MONDO:0010429 intellectual disability, X-linked 96 skos:exactMatch OMIM:300802 intellectual developmental disorder, X-linked 96 semapv:UnspecifiedMatching MONDO:0010429 intellectual disability, X-linked 96 skos:exactMatch UMLS:C3275408 semapv:UnspecifiedMatching MONDO:0010430 intellectual disability, X-linked 97 skos:exactMatch DOID:0112046 non-syndromic X-linked intellectual disability 97 semapv:UnspecifiedMatching MONDO:0010430 intellectual disability, X-linked 97 skos:exactMatch OMIM:300803 intellectual developmental disorder, X-linked 97 semapv:UnspecifiedMatching MONDO:0010430 intellectual disability, X-linked 97 skos:exactMatch UMLS:C2749020 semapv:UnspecifiedMatching MONDO:0010430 intellectual disability, X-linked 97 skos:exactMatch mesh:C567583 semapv:UnspecifiedMatching MONDO:0010431 Joubert syndrome 10 skos:exactMatch DOID:0110981 Joubert syndrome 10 semapv:UnspecifiedMatching MONDO:0010431 Joubert syndrome 10 skos:exactMatch OMIM:300804 joubert syndrome 10 semapv:UnspecifiedMatching MONDO:0010431 Joubert syndrome 10 skos:exactMatch UMLS:C2749019 semapv:UnspecifiedMatching MONDO:0010431 Joubert syndrome 10 skos:exactMatch mesh:C567582 semapv:UnspecifiedMatching MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:exactMatch DOID:0111899 X-linked thrombophilia due to factor IX defect semapv:UnspecifiedMatching MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:exactMatch OMIM:300807 thrombophilia, x-linked, due to factor 9 defect semapv:UnspecifiedMatching MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:exactMatch UMLS:C2749016 semapv:UnspecifiedMatching MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:exactMatch mesh:C567581 semapv:UnspecifiedMatching MONDO:0010433 systemic lupus erythematosus, susceptibility to, 15 skos:exactMatch OMIM:300809 systemic lupus erythematosus, susceptibility to, 15 semapv:UnspecifiedMatching MONDO:0010434 synovial sarcoma skos:exactMatch DOID:5485 synovial sarcoma semapv:UnspecifiedMatching MONDO:0010434 synovial sarcoma skos:exactMatch NCIT:C3400 Synovial Sarcoma semapv:UnspecifiedMatching MONDO:0010434 synovial sarcoma skos:exactMatch OMIM:300813 sarcoma, synovial semapv:UnspecifiedMatching MONDO:0010434 synovial sarcoma skos:exactMatch Orphanet:3273 Synovial sarcoma semapv:UnspecifiedMatching MONDO:0010434 synovial sarcoma skos:exactMatch SCTID:302851001 semapv:UnspecifiedMatching MONDO:0010434 synovial sarcoma skos:exactMatch UMLS:C0039101 semapv:UnspecifiedMatching MONDO:0010434 synovial sarcoma skos:exactMatch mesh:D013584 semapv:UnspecifiedMatching MONDO:0010435 nystagmus 6, congenital, X-linked skos:exactMatch DOID:0111795 congenital nystagmus 6 semapv:UnspecifiedMatching MONDO:0010435 nystagmus 6, congenital, X-linked skos:exactMatch OMIM:300814 nystagmus 6, congenital, X-linked semapv:UnspecifiedMatching MONDO:0010435 nystagmus 6, congenital, X-linked skos:exactMatch UMLS:C3151752 semapv:UnspecifiedMatching MONDO:0010436 chromosome Xq28 duplication syndrome skos:exactMatch OMIM:300815 chromosome xq28 duplication syndrome semapv:UnspecifiedMatching MONDO:0010436 chromosome Xq28 duplication syndrome skos:exactMatch UMLS:C2749007 semapv:UnspecifiedMatching MONDO:0010436 chromosome Xq28 duplication syndrome skos:exactMatch mesh:C567580 semapv:UnspecifiedMatching MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:exactMatch DOID:0111502 combined oxidative phosphorylation deficiency 6 semapv:UnspecifiedMatching MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:exactMatch OMIM:300816 combined oxidative phosphorylation deficiency 6 semapv:UnspecifiedMatching MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:exactMatch Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy semapv:UnspecifiedMatching MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:exactMatch SCTID:722212004 semapv:UnspecifiedMatching MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:exactMatch UMLS:C3151753 semapv:UnspecifiedMatching MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 skos:exactMatch OMIM:300818 paroxysmal nocturnal hemoglobinuria 1 semapv:UnspecifiedMatching MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 skos:exactMatch UMLS:C3806670 semapv:UnspecifiedMatching MONDO:0010439 cardiomyopathy, fatal fetal, due to myocardial calcification skos:exactMatch OMIM:300829 cardiomyopathy, fatal fetal, due to myocardial calcification semapv:UnspecifiedMatching MONDO:0010439 cardiomyopathy, fatal fetal, due to myocardial calcification skos:exactMatch UMLS:C1853577 semapv:UnspecifiedMatching MONDO:0010439 cardiomyopathy, fatal fetal, due to myocardial calcification skos:exactMatch mesh:C543241 semapv:UnspecifiedMatching MONDO:0010440 autism, susceptibility to, X-linked 4 skos:exactMatch OMIM:300830 autism, susceptibility to, X-linked 4 semapv:UnspecifiedMatching MONDO:0010441 CK syndrome skos:exactMatch DOID:0111898 CK syndrome semapv:UnspecifiedMatching MONDO:0010441 CK syndrome skos:exactMatch OMIM:300831 ck syndrome semapv:UnspecifiedMatching MONDO:0010441 CK syndrome skos:exactMatch Orphanet:251383 CK syndrome semapv:UnspecifiedMatching MONDO:0010441 CK syndrome skos:exactMatch UMLS:C3151781 semapv:UnspecifiedMatching MONDO:0010442 46,XX sex reversal 3 skos:exactMatch DOID:0111762 46,XX sex reversal 3 semapv:UnspecifiedMatching MONDO:0010442 46,XX sex reversal 3 skos:exactMatch OMIM:300833 46,xx sex reversal 3 semapv:UnspecifiedMatching MONDO:0010442 46,XX sex reversal 3 skos:exactMatch UMLS:C3151782 semapv:UnspecifiedMatching MONDO:0010443 macular degeneration, X-linked atrophic skos:exactMatch DOID:0112157 X-linked atrophic macular degeneration semapv:UnspecifiedMatching MONDO:0010443 macular degeneration, X-linked atrophic skos:exactMatch OMIM:300834 macular degeneration, atrophic, X-linked semapv:UnspecifiedMatching MONDO:0010443 macular degeneration, X-linked atrophic skos:exactMatch UMLS:C3151784 semapv:UnspecifiedMatching MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:exactMatch DOID:0112156 X-linked dyserythropoietic anemia semapv:UnspecifiedMatching MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:exactMatch OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities semapv:UnspecifiedMatching MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:exactMatch Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia semapv:UnspecifiedMatching MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:exactMatch OMIM:300843 bornholm eye disease semapv:UnspecifiedMatching MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:exactMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:UnspecifiedMatching MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:exactMatch SCTID:718718009 semapv:UnspecifiedMatching MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:exactMatch UMLS:C3159311 semapv:UnspecifiedMatching MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:exactMatch mesh:C564092 semapv:UnspecifiedMatching MONDO:0010447 intellectual disability, X-linked 19 skos:exactMatch DOID:0112019 non-syndromic X-linked intellectual disability 19 semapv:UnspecifiedMatching MONDO:0010447 intellectual disability, X-linked 19 skos:exactMatch OMIM:300844 intellectual developmental disorder, X-linked 19 semapv:UnspecifiedMatching MONDO:0010447 intellectual disability, X-linked 19 skos:exactMatch UMLS:C0796225 semapv:UnspecifiedMatching MONDO:0010447 intellectual disability, X-linked 19 skos:exactMatch mesh:C563141 semapv:UnspecifiedMatching MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:exactMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:UnspecifiedMatching MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:exactMatch Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:exactMatch UMLS:C3151857 semapv:UnspecifiedMatching MONDO:0010449 autism, susceptibility to, X-linked 5 skos:exactMatch OMIM:300847 autism, susceptibility to, X-linked 5 semapv:UnspecifiedMatching MONDO:0010450 intellectual disability, X-linked 89 skos:exactMatch DOID:0112031 non-syndromic X-linked intellectual disability 89 semapv:UnspecifiedMatching MONDO:0010450 intellectual disability, X-linked 89 skos:exactMatch OMIM:300848 intellectual developmental disorder, X-linked 89 semapv:UnspecifiedMatching MONDO:0010450 intellectual disability, X-linked 89 skos:exactMatch mesh:C564036 semapv:UnspecifiedMatching MONDO:0010451 intellectual disability, X-linked 41 skos:exactMatch DOID:0112058 non-syndromic X-linked intellectual disability 41 semapv:UnspecifiedMatching MONDO:0010451 intellectual disability, X-linked 41 skos:exactMatch OMIM:300849 intellectual developmental disorder, X-linked 41 semapv:UnspecifiedMatching MONDO:0010451 intellectual disability, X-linked 41 skos:exactMatch UMLS:C3887939 semapv:UnspecifiedMatching MONDO:0010452 intellectual disability, X-linked 90 skos:exactMatch DOID:0112041 non-syndromic X-linked intellectual disability 90 semapv:UnspecifiedMatching MONDO:0010452 intellectual disability, X-linked 90 skos:exactMatch OMIM:300850 intellectual developmental disorder, X-linked 90 semapv:UnspecifiedMatching MONDO:0010452 intellectual disability, X-linked 90 skos:exactMatch UMLS:C3275443 semapv:UnspecifiedMatching MONDO:0010453 intellectual disability, X-linked 92 skos:exactMatch DOID:0112032 non-syndromic X-linked intellectual disability 92 semapv:UnspecifiedMatching MONDO:0010453 intellectual disability, X-linked 92 skos:exactMatch OMIM:300851 intellectual developmental disorder, X-linked 92 semapv:UnspecifiedMatching MONDO:0010453 intellectual disability, X-linked 92 skos:exactMatch UMLS:C1845144 semapv:UnspecifiedMatching MONDO:0010453 intellectual disability, X-linked 92 skos:exactMatch mesh:C564483 semapv:UnspecifiedMatching MONDO:0010454 intellectual disability, X-linked 88 skos:exactMatch DOID:0112053 non-syndromic X-linked intellectual disability 88 semapv:UnspecifiedMatching MONDO:0010454 intellectual disability, X-linked 88 skos:exactMatch OMIM:300852 intellectual developmental disorder, X-linked 88 semapv:UnspecifiedMatching MONDO:0010454 intellectual disability, X-linked 88 skos:exactMatch UMLS:C3275444 semapv:UnspecifiedMatching MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia semapv:UnspecifiedMatching MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch NCIT:C126336 X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia semapv:UnspecifiedMatching MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch OMIM:300853 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia semapv:UnspecifiedMatching MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia semapv:UnspecifiedMatching MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch SCTID:711481001 semapv:UnspecifiedMatching MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch UMLS:C3275445 semapv:UnspecifiedMatching MONDO:0010456 renal cell carcinoma, Xp11-associated skos:exactMatch OMIM:300854 renal cell carcinoma, xp11-associated semapv:UnspecifiedMatching MONDO:0010456 renal cell carcinoma, Xp11-associated skos:exactMatch UMLS:C3275446 semapv:UnspecifiedMatching MONDO:0010457 Ogden syndrome skos:exactMatch DOID:0050781 Ogden syndrome semapv:UnspecifiedMatching MONDO:0010457 Ogden syndrome skos:exactMatch NCIT:C188215 Ogden Syndrome semapv:UnspecifiedMatching MONDO:0010457 Ogden syndrome skos:exactMatch OMIM:300855 ogden syndrome semapv:UnspecifiedMatching MONDO:0010457 Ogden syndrome skos:exactMatch Orphanet:276432 Ogden syndrome semapv:UnspecifiedMatching MONDO:0010457 Ogden syndrome skos:exactMatch UMLS:C3275447 semapv:UnspecifiedMatching MONDO:0010457 Ogden syndrome skos:exactMatch mesh:C536107 semapv:UnspecifiedMatching MONDO:0010458 hypospadias 4, X-linked skos:exactMatch OMIM:300856 hypospadias 4, x-linked, susceptibility to semapv:UnspecifiedMatching MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:exactMatch DOID:0060206 amyotrophic lateral sclerosis type 15 semapv:UnspecifiedMatching MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:exactMatch OMIM:300857 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia semapv:UnspecifiedMatching MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:exactMatch UMLS:C3275459 semapv:UnspecifiedMatching MONDO:0010460 syndromic X-linked intellectual disability 17 skos:exactMatch DOID:0060803 syndromic X-linked intellectual disability 17 semapv:UnspecifiedMatching MONDO:0010460 syndromic X-linked intellectual disability 17 skos:exactMatch OMIM:300858 intellectual developmental disorder, x-linked, syndromic 17 semapv:UnspecifiedMatching MONDO:0010460 syndromic X-linked intellectual disability 17 skos:exactMatch Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome semapv:UnspecifiedMatching MONDO:0010460 syndromic X-linked intellectual disability 17 skos:exactMatch UMLS:C3275460 semapv:UnspecifiedMatching MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:exactMatch DOID:0060820 syndromic X-linked intellectual disability Nascimento type semapv:UnspecifiedMatching MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:exactMatch OMIM:300860 intellectual developmental disorder, x-linked, syndromic, nascimento iia semapv:UnspecifiedMatching MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:exactMatch Orphanet:163956 X-linked intellectual disability, Nascimento type semapv:UnspecifiedMatching MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:exactMatch UMLS:C3275464 semapv:UnspecifiedMatching MONDO:0010462 syndromic X-linked intellectual disability Chudley-Schwartz type skos:exactMatch DOID:0060819 syndromic X-linked intellectual disability Chudley-Schwartz type semapv:UnspecifiedMatching MONDO:0010462 syndromic X-linked intellectual disability Chudley-Schwartz type skos:exactMatch OMIM:300861 intellectual developmental disorder, x-linked, syndromic, chudley-schwartz iia semapv:UnspecifiedMatching MONDO:0010462 syndromic X-linked intellectual disability Chudley-Schwartz type skos:exactMatch UMLS:C3275471 semapv:UnspecifiedMatching MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:UnspecifiedMatching MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch OMIM:300863 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:UnspecifiedMatching MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type semapv:UnspecifiedMatching MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch SCTID:719837003 semapv:UnspecifiedMatching MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch UMLS:C3275476 semapv:UnspecifiedMatching MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:exactMatch OMIM:300864 cerebral-cerebellar-coloboma syndrome, X-linked semapv:UnspecifiedMatching MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:exactMatch Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome semapv:UnspecifiedMatching MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:exactMatch UMLS:C3275487 semapv:UnspecifiedMatching MONDO:0010465 Kabuki syndrome 2 skos:exactMatch OMIM:300867 kabuki syndrome 2 semapv:UnspecifiedMatching MONDO:0010465 Kabuki syndrome 2 skos:exactMatch UMLS:C3275495 semapv:UnspecifiedMatching MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 semapv:UnspecifiedMatching MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch OMIM:300868 multiple congenital anomalies-hypotonia-seizures syndrome 2 semapv:UnspecifiedMatching MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 semapv:UnspecifiedMatching MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch UMLS:C3275508 semapv:UnspecifiedMatching MONDO:0010467 Xq27.3q28 duplication syndrome skos:exactMatch OMIM:300869 chromosome xq27.3-q28 duplication syndrome semapv:UnspecifiedMatching MONDO:0010467 Xq27.3q28 duplication syndrome skos:exactMatch Orphanet:261483 Xq27.3q28 duplication syndrome semapv:UnspecifiedMatching MONDO:0010467 Xq27.3q28 duplication syndrome skos:exactMatch UMLS:C3275521 semapv:UnspecifiedMatching MONDO:0010468 aneurysm, intracranial berry, 5 skos:exactMatch DOID:0080968 intracranial berry aneurysm 5 semapv:UnspecifiedMatching MONDO:0010468 aneurysm, intracranial berry, 5 skos:exactMatch OMIM:300870 aneurysm, intracranial berry, 5 semapv:UnspecifiedMatching MONDO:0010468 aneurysm, intracranial berry, 5 skos:exactMatch UMLS:C1835857 semapv:UnspecifiedMatching MONDO:0010468 aneurysm, intracranial berry, 5 skos:exactMatch mesh:C563670 semapv:UnspecifiedMatching MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency skos:exactMatch OMIM:300872 autism, susceptibility to, X-linked 6 semapv:UnspecifiedMatching MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency skos:exactMatch UMLS:C3550875 semapv:UnspecifiedMatching MONDO:0010470 obsolete Baratela-Scott syndrome skos:exactMatch OMIM:300881 semapv:UnspecifiedMatching MONDO:0010471 Cornelia de Lange syndrome 5 skos:exactMatch DOID:0080509 Cornelia de Lange syndrome 5 semapv:UnspecifiedMatching MONDO:0010471 Cornelia de Lange syndrome 5 skos:exactMatch OMIM:300882 cornelia lange lange syndrome 5 semapv:UnspecifiedMatching MONDO:0010471 Cornelia de Lange syndrome 5 skos:exactMatch UMLS:C3550903 semapv:UnspecifiedMatching MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch DOID:0080470 developmental and epileptic encephalopathy 36 semapv:UnspecifiedMatching MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch OMIM:300884 developmental and epileptic encephalopathy 36 semapv:UnspecifiedMatching MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch Orphanet:324422 ALG13-CDG semapv:UnspecifiedMatching MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch SCTID:733451007 semapv:UnspecifiedMatching MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch UMLS:C4317295 semapv:UnspecifiedMatching MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:exactMatch DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome semapv:UnspecifiedMatching MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:exactMatch OMIM:300886 intellectual developmental disorder, x-linked, syndromic 32 semapv:UnspecifiedMatching MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:exactMatch Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome semapv:UnspecifiedMatching MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:exactMatch UMLS:C3550913 semapv:UnspecifiedMatching MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:exactMatch DOID:0111877 linear skin defects with multiple congenital anomalies 2 semapv:UnspecifiedMatching MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:exactMatch OMIM:300887 linear skin defects with multiple congenital anomalies 2 semapv:UnspecifiedMatching MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:exactMatch UMLS:C3550921 semapv:UnspecifiedMatching MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:exactMatch DOID:0111140 IGSF1 deficiency syndrome semapv:UnspecifiedMatching MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:exactMatch NCIT:C130989 Immunoglobulin Superfamily Member 1 Deficiency Syndrome semapv:UnspecifiedMatching MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:exactMatch OMIM:300888 hypothyroidism, central, with testicular enlargement semapv:UnspecifiedMatching MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:exactMatch Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement semapv:UnspecifiedMatching MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:exactMatch UMLS:C3550963 semapv:UnspecifiedMatching MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch DOID:0110739 neurodegeneration with brain iron accumulation 5 semapv:UnspecifiedMatching MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch NCIT:C175210 Neurodegeneration with Brain Iron Accumulation 5 semapv:UnspecifiedMatching MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch OMIM:300894 neurodegeneration with brain iron accumulation 5 semapv:UnspecifiedMatching MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:UnspecifiedMatching MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch SCTID:732959007 semapv:UnspecifiedMatching MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch UMLS:C3550973 semapv:UnspecifiedMatching MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:exactMatch OMIM:300895 ohdo syndrome, X-linked semapv:UnspecifiedMatching MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:exactMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:UnspecifiedMatching MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:exactMatch SCTID:699297004 semapv:UnspecifiedMatching MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:exactMatch UMLS:C3698541 semapv:UnspecifiedMatching MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:exactMatch DOID:0070265 congenital disorder of glycosylation type IIm semapv:UnspecifiedMatching MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:exactMatch OMIM:300896 congenital disorder of glycosylation, iia iim semapv:UnspecifiedMatching MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:exactMatch Orphanet:356961 SLC35A2-CDG semapv:UnspecifiedMatching MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:exactMatch UMLS:C3806688 semapv:UnspecifiedMatching MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:exactMatch DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 semapv:UnspecifiedMatching MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:exactMatch OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 semapv:UnspecifiedMatching MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:exactMatch Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 semapv:UnspecifiedMatching MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:exactMatch SCTID:763347000 semapv:UnspecifiedMatching MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:exactMatch UMLS:C3806702 semapv:UnspecifiedMatching MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:exactMatch OMIM:300908 anemia, nonspherocytic hemolytic, due to g6pd deficiency semapv:UnspecifiedMatching MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:exactMatch Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:exactMatch UMLS:C2720289 semapv:UnspecifiedMatching MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:exactMatch mesh:C567533 semapv:UnspecifiedMatching MONDO:0010481 angioedema skos:exactMatch DOID:1558 angioedema semapv:UnspecifiedMatching MONDO:0010481 angioedema skos:exactMatch SCTID:400075008 semapv:UnspecifiedMatching MONDO:0010481 angioedema skos:exactMatch mesh:D000799 semapv:UnspecifiedMatching MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:exactMatch DOID:0112105 X-linked parkinsonism-spasticity syndrome semapv:UnspecifiedMatching MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:exactMatch OMIM:300911 parkinsonism with spasticity, X-linked semapv:UnspecifiedMatching MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:exactMatch Orphanet:363654 X-linked parkinsonism-spasticity syndrome semapv:UnspecifiedMatching MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:exactMatch UMLS:C3806722 semapv:UnspecifiedMatching MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:exactMatch DOID:0112044 non-syndromic X-linked intellectual disability 98 semapv:UnspecifiedMatching MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:exactMatch OMIM:300912 intellectual developmental disorder, X-linked 98 semapv:UnspecifiedMatching MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:exactMatch Orphanet:85277 X-linked intellectual disability, Cantagrel type semapv:UnspecifiedMatching MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:exactMatch SCTID:719016007 semapv:UnspecifiedMatching MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:exactMatch UMLS:C3806730 semapv:UnspecifiedMatching MONDO:0010484 hearing loss, X-linked 6 skos:exactMatch DOID:0111740 X-linked deafness 6 semapv:UnspecifiedMatching MONDO:0010484 hearing loss, X-linked 6 skos:exactMatch OMIM:300914 deafness, X-linked 6 semapv:UnspecifiedMatching MONDO:0010484 hearing loss, X-linked 6 skos:exactMatch UMLS:C3806737 semapv:UnspecifiedMatching MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:exactMatch DOID:0111811 syndromic microphthalmia 13 semapv:UnspecifiedMatching MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:exactMatch OMIM:300915 microphthalmia, syndromic 13 semapv:UnspecifiedMatching MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:exactMatch Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome semapv:UnspecifiedMatching MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:exactMatch UMLS:C3806742 semapv:UnspecifiedMatching MONDO:0010486 Olmsted syndrome, X-linked skos:exactMatch DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:UnspecifiedMatching MONDO:0010486 Olmsted syndrome, X-linked skos:exactMatch OMIM:300918 olmsted syndrome, X-linked semapv:UnspecifiedMatching MONDO:0010486 Olmsted syndrome, X-linked skos:exactMatch UMLS:C3806745 semapv:UnspecifiedMatching MONDO:0010487 intellectual disability, X-linked 99 skos:exactMatch DOID:0112026 non-syndromic X-linked intellectual disability 99 semapv:UnspecifiedMatching MONDO:0010487 intellectual disability, X-linked 99 skos:exactMatch OMIM:300919 intellectual developmental disorder, X-linked 99 semapv:UnspecifiedMatching MONDO:0010487 intellectual disability, X-linked 99 skos:exactMatch UMLS:C3806746 semapv:UnspecifiedMatching MONDO:0010488 intellectual disability, X-linked 100 skos:exactMatch DOID:0112040 non-syndromic X-linked intellectual disability 100 semapv:UnspecifiedMatching MONDO:0010488 intellectual disability, X-linked 100 skos:exactMatch OMIM:300923 intellectual developmental disorder, X-linked 100 semapv:UnspecifiedMatching MONDO:0010488 intellectual disability, X-linked 100 skos:exactMatch UMLS:C3890167 semapv:UnspecifiedMatching MONDO:0010489 intellectual disability, X-linked 101 skos:exactMatch DOID:0112048 non-syndromic X-linked intellectual disability 101 semapv:UnspecifiedMatching MONDO:0010489 intellectual disability, X-linked 101 skos:exactMatch OMIM:300928 intellectual developmental disorder, X-linked 101 semapv:UnspecifiedMatching MONDO:0010489 intellectual disability, X-linked 101 skos:exactMatch UMLS:C3890168 semapv:UnspecifiedMatching MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch DOID:0080574 congenital disorder of glycosylation Iy semapv:UnspecifiedMatching MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch OMIM:300934 congenital disorder of glycosylation, iia iy semapv:UnspecifiedMatching MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch Orphanet:370927 SSR4-CDG semapv:UnspecifiedMatching MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch SCTID:733115009 semapv:UnspecifiedMatching MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch UMLS:C4012395 semapv:UnspecifiedMatching MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:exactMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:UnspecifiedMatching MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:exactMatch SCTID:768472004 semapv:UnspecifiedMatching MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:exactMatch UMLS:C3891556 semapv:UnspecifiedMatching MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:exactMatch DOID:0112007 growth hormone secreting pituitary adenoma 2 semapv:UnspecifiedMatching MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:exactMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:UnspecifiedMatching MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:exactMatch UMLS:C4012409 semapv:UnspecifiedMatching MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:exactMatch DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis semapv:UnspecifiedMatching MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:exactMatch OMIM:300946 diamond-blackfan anemia 14 with mandibulofacial dysostosis semapv:UnspecifiedMatching MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:exactMatch UMLS:C4225422 semapv:UnspecifiedMatching MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:exactMatch DOID:0111876 linear skin defects with multiple congenital anomalies 3 semapv:UnspecifiedMatching MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:exactMatch OMIM:300952 linear skin defects with multiple congenital anomalies 3 semapv:UnspecifiedMatching MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:exactMatch UMLS:C4225421 semapv:UnspecifiedMatching MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:exactMatch DOID:0111868 nonphotosensitive trichothiodystrophy 5 semapv:UnspecifiedMatching MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:exactMatch OMIM:300953 trichothiodystrophy 5, nonphotosensitive semapv:UnspecifiedMatching MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:exactMatch UMLS:C4225420 semapv:UnspecifiedMatching MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:exactMatch DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome semapv:UnspecifiedMatching MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:exactMatch OMIM:300957 intellectual developmental disorder, X-linked 12 semapv:UnspecifiedMatching MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:exactMatch Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome semapv:UnspecifiedMatching MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:exactMatch UMLS:C0796218 semapv:UnspecifiedMatching MONDO:0010497 intellectual disability, X-linked 102 skos:exactMatch NCIT:C129931 Mental Retardation, X-linked 102 semapv:UnspecifiedMatching MONDO:0010497 intellectual disability, X-linked 102 skos:exactMatch OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders blok iia semapv:UnspecifiedMatching MONDO:0010497 intellectual disability, X-linked 102 skos:exactMatch UMLS:C5393299 semapv:UnspecifiedMatching MONDO:0010498 MEND syndrome skos:exactMatch DOID:0111865 MEND syndrome semapv:UnspecifiedMatching MONDO:0010498 MEND syndrome skos:exactMatch OMIM:300960 mend syndrome semapv:UnspecifiedMatching MONDO:0010498 MEND syndrome skos:exactMatch Orphanet:401973 MEND syndrome semapv:UnspecifiedMatching MONDO:0010498 MEND syndrome skos:exactMatch UMLS:C4085243 semapv:UnspecifiedMatching MONDO:0010499 Ritscher-Schinzel syndrome 2 skos:exactMatch DOID:0060572 Ritscher-Schinzel syndrome 2 semapv:UnspecifiedMatching MONDO:0010499 Ritscher-Schinzel syndrome 2 skos:exactMatch OMIM:300963 ritscher-schinzel syndrome 2 semapv:UnspecifiedMatching MONDO:0010499 Ritscher-Schinzel syndrome 2 skos:exactMatch UMLS:C4225419 semapv:UnspecifiedMatching MONDO:0010500 intellectual disability, X-linked, syndromic 33 skos:exactMatch OMIM:300966 intellectual developmental disorder, x-linked, syndromic 33 semapv:UnspecifiedMatching MONDO:0010500 intellectual disability, X-linked, syndromic 33 skos:exactMatch UMLS:C4225418 semapv:UnspecifiedMatching MONDO:0010501 syndromic X-linked intellectual disability 34 skos:exactMatch DOID:0060817 syndromic X-linked intellectual disability 34 semapv:UnspecifiedMatching MONDO:0010501 syndromic X-linked intellectual disability 34 skos:exactMatch OMIM:300967 intellectual developmental disorder, x-linked, syndromic 34 semapv:UnspecifiedMatching MONDO:0010501 syndromic X-linked intellectual disability 34 skos:exactMatch Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome semapv:UnspecifiedMatching MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted skos:exactMatch DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 semapv:UnspecifiedMatching MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted skos:exactMatch OMIM:300968 intellectual developmental disorder, X-linked 99, syndromic, female-restricted semapv:UnspecifiedMatching MONDO:0010503 Bartter disease type 5 skos:exactMatch DOID:0110147 Bartter disease type 5 semapv:UnspecifiedMatching MONDO:0010503 Bartter disease type 5 skos:exactMatch OMIM:300971 bartter syndrome, iia 5, antenatal, transient semapv:UnspecifiedMatching MONDO:0010503 Bartter disease type 5 skos:exactMatch Orphanet:570371 Bartter syndrome type 5 semapv:UnspecifiedMatching MONDO:0010503 Bartter disease type 5 skos:exactMatch UMLS:C4310820 semapv:UnspecifiedMatching MONDO:0010504 immunodeficiency 47 skos:exactMatch DOID:0112002 immunodeficiency 47 semapv:UnspecifiedMatching MONDO:0010504 immunodeficiency 47 skos:exactMatch OMIM:300972 immunodeficiency 47 semapv:UnspecifiedMatching MONDO:0010504 immunodeficiency 47 skos:exactMatch UMLS:C4310819 semapv:UnspecifiedMatching MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:exactMatch OMIM:300977 scholte syndrome semapv:UnspecifiedMatching MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:exactMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:UnspecifiedMatching MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:exactMatch SCTID:722002002 semapv:UnspecifiedMatching MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:exactMatch UMLS:C1866985 semapv:UnspecifiedMatching MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:exactMatch mesh:C536638 semapv:UnspecifiedMatching MONDO:0010506 intellectual disability, X-linked 61 skos:exactMatch DOID:0112042 Tonne-Kalscheuer syndrome semapv:UnspecifiedMatching MONDO:0010506 intellectual disability, X-linked 61 skos:exactMatch OMIM:300978 tonne-kalscheuer syndrome semapv:UnspecifiedMatching MONDO:0010506 intellectual disability, X-linked 61 skos:exactMatch UMLS:C4283894 semapv:UnspecifiedMatching MONDO:0010507 Xq25 microduplication syndrome skos:exactMatch NCIT:C177544 Xq25 Microduplication Syndrome semapv:UnspecifiedMatching MONDO:0010507 Xq25 microduplication syndrome skos:exactMatch OMIM:300979 chromosome xq25 duplication syndrome semapv:UnspecifiedMatching MONDO:0010507 Xq25 microduplication syndrome skos:exactMatch Orphanet:521258 Xq25 microduplication syndrome semapv:UnspecifiedMatching MONDO:0010507 Xq25 microduplication syndrome skos:exactMatch UMLS:C4311049 semapv:UnspecifiedMatching MONDO:0010508 intellectual disability, X-linked 103 skos:exactMatch DOID:0112020 non-syndromic X-linked intellectual disability 103 semapv:UnspecifiedMatching MONDO:0010508 intellectual disability, X-linked 103 skos:exactMatch OMIM:300982 intellectual developmental disorder, X-linked 103 semapv:UnspecifiedMatching MONDO:0010508 intellectual disability, X-linked 103 skos:exactMatch UMLS:C4310818 semapv:UnspecifiedMatching MONDO:0010509 intellectual disability, X-linked 104 skos:exactMatch DOID:0112018 non-syndromic X-linked intellectual disability 104 semapv:UnspecifiedMatching MONDO:0010509 intellectual disability, X-linked 104 skos:exactMatch OMIM:300983 intellectual developmental disorder, X-linked 104 semapv:UnspecifiedMatching MONDO:0010509 intellectual disability, X-linked 104 skos:exactMatch UMLS:C4310817 semapv:UnspecifiedMatching MONDO:0010510 intellectual disability, X-linked 105 skos:exactMatch DOID:0112036 non-syndromic X-linked intellectual disability 105 semapv:UnspecifiedMatching MONDO:0010510 intellectual disability, X-linked 105 skos:exactMatch OMIM:300984 intellectual developmental disorder, X-linked 105 semapv:UnspecifiedMatching MONDO:0010510 intellectual disability, X-linked 105 skos:exactMatch UMLS:C4310816 semapv:UnspecifiedMatching MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked skos:exactMatch DOID:0111863 X-linked congenital bilateral absence of vas deferens semapv:UnspecifiedMatching MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked skos:exactMatch OMIM:300985 vas deferens, congenital bilateral aplasia of, X-linked semapv:UnspecifiedMatching MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked skos:exactMatch UMLS:C4310815 semapv:UnspecifiedMatching MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:exactMatch OMIM:300986 intellectual developmental disorder, x-linked, syndromic, bain iia semapv:UnspecifiedMatching MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:exactMatch UMLS:C4310814 semapv:UnspecifiedMatching MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:UnspecifiedMatching MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch OMIM:300988 immunodeficiency 50 semapv:UnspecifiedMatching MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch Orphanet:504530 Combined immunodeficiency due to Moesin deficiency semapv:UnspecifiedMatching MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch UMLS:C5568123 semapv:UnspecifiedMatching MONDO:0010515 Meester-Loeys syndrome skos:exactMatch DOID:0111861 Meester-Loeys syndrome semapv:UnspecifiedMatching MONDO:0010515 Meester-Loeys syndrome skos:exactMatch NCIT:C187989 Meester-Loeys Syndrome semapv:UnspecifiedMatching MONDO:0010515 Meester-Loeys syndrome skos:exactMatch OMIM:300989 meester-loeys syndrome semapv:UnspecifiedMatching MONDO:0010515 Meester-Loeys syndrome skos:exactMatch UMLS:C4310811 semapv:UnspecifiedMatching MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis semapv:UnspecifiedMatching MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch OMIM:300990 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis semapv:UnspecifiedMatching MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch UMLS:C4310810 semapv:UnspecifiedMatching MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:exactMatch DOID:0111850 primary ciliary dyskinesia 36 semapv:UnspecifiedMatching MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:exactMatch OMIM:300991 ciliary dyskinesia, primary, 36, X-linked semapv:UnspecifiedMatching MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:exactMatch UMLS:C4478372 semapv:UnspecifiedMatching MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch DOID:9169 Wiskott-Aldrich syndrome semapv:UnspecifiedMatching MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch ICD10CM:D82.0 Wiskott-Aldrich syndrome semapv:UnspecifiedMatching MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch NCIT:C3448 Wiskott-Aldrich Syndrome semapv:UnspecifiedMatching MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch OMIM:301000 wiskott-aldrich syndrome semapv:UnspecifiedMatching MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:UnspecifiedMatching MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch SCTID:36070007 semapv:UnspecifiedMatching MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch UMLS:C0043194 semapv:UnspecifiedMatching MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch mesh:D014923 semapv:UnspecifiedMatching MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch NCIT:C118631 Alpha Thalassemia X-Linked Mental Retardation Syndrome semapv:UnspecifiedMatching MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked semapv:UnspecifiedMatching MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch SCTID:715342005 semapv:UnspecifiedMatching MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch UMLS:C1845055 semapv:UnspecifiedMatching MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch mesh:C538258 semapv:UnspecifiedMatching MONDO:0010520 X-linked Alport syndrome skos:exactMatch DOID:0110034 X-linked Alport syndrome semapv:UnspecifiedMatching MONDO:0010520 X-linked Alport syndrome skos:exactMatch OMIM:301050 alport syndrome 1, X-linked semapv:UnspecifiedMatching MONDO:0010520 X-linked Alport syndrome skos:exactMatch Orphanet:88917 X-linked Alport syndrome semapv:UnspecifiedMatching MONDO:0010520 X-linked Alport syndrome skos:exactMatch SCTID:717768004 semapv:UnspecifiedMatching MONDO:0010521 amelogenesis imperfecta type 1E skos:exactMatch DOID:0110058 amelogenesis imperfecta type 1E semapv:UnspecifiedMatching MONDO:0010521 amelogenesis imperfecta type 1E skos:exactMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:UnspecifiedMatching MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:exactMatch DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 semapv:UnspecifiedMatching MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:exactMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:UnspecifiedMatching MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:exactMatch UMLS:C1845051 semapv:UnspecifiedMatching MONDO:0010523 X-linked reticulate pigmentary disorder skos:exactMatch DOID:0111834 X-linked reticulate pigmentary disorder semapv:UnspecifiedMatching MONDO:0010523 X-linked reticulate pigmentary disorder skos:exactMatch OMIM:301220 pigmentary disorder, reticulate, with systemic manifestations, X-linked semapv:UnspecifiedMatching MONDO:0010523 X-linked reticulate pigmentary disorder skos:exactMatch Orphanet:85453 X-linked reticulate pigmentary disorder semapv:UnspecifiedMatching MONDO:0010523 X-linked reticulate pigmentary disorder skos:exactMatch SCTID:717224002 semapv:UnspecifiedMatching MONDO:0010523 X-linked reticulate pigmentary disorder skos:exactMatch mesh:C564461 semapv:UnspecifiedMatching MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:exactMatch DOID:0050554 X-linked sideroblastic anemia with ataxia semapv:UnspecifiedMatching MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:exactMatch OMIM:301310 anemia, sideroblastic, and spinocerebellar ataxia semapv:UnspecifiedMatching MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:exactMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:UnspecifiedMatching MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:exactMatch SCTID:719816006 semapv:UnspecifiedMatching MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:exactMatch UMLS:C1845028 semapv:UnspecifiedMatching MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:exactMatch mesh:C536358 semapv:UnspecifiedMatching MONDO:0010525 neural tube defects, X-linked skos:exactMatch OMIM:301410 neural tube defects, X-linked semapv:UnspecifiedMatching MONDO:0010525 neural tube defects, X-linked skos:exactMatch UMLS:C1845026 semapv:UnspecifiedMatching MONDO:0010525 neural tube defects, X-linked skos:exactMatch mesh:C536359 semapv:UnspecifiedMatching MONDO:0010526 Fabry disease skos:exactMatch DOID:14499 Fabry disease semapv:UnspecifiedMatching MONDO:0010526 Fabry disease skos:exactMatch NCIT:C84701 Fabry Disease semapv:UnspecifiedMatching MONDO:0010526 Fabry disease skos:exactMatch OMIM:301500 fabry disease semapv:UnspecifiedMatching MONDO:0010526 Fabry disease skos:exactMatch Orphanet:324 Fabry disease semapv:UnspecifiedMatching MONDO:0010526 Fabry disease skos:exactMatch SCTID:16652001 semapv:UnspecifiedMatching MONDO:0010526 Fabry disease skos:exactMatch UMLS:C0002986 semapv:UnspecifiedMatching MONDO:0010526 Fabry disease skos:exactMatch mesh:D000795 semapv:UnspecifiedMatching MONDO:0010527 obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome skos:exactMatch OMIM:301590 semapv:UnspecifiedMatching MONDO:0010528 anosmia skos:exactMatch SCTID:44169009 semapv:UnspecifiedMatching MONDO:0010528 anosmia skos:exactMatch UMLS:C0003126 semapv:UnspecifiedMatching MONDO:0010528 anosmia skos:exactMatch mesh:D000857 semapv:UnspecifiedMatching MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch DOID:0111831 X-linked spinocerebellar ataxia 3 semapv:UnspecifiedMatching MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:UnspecifiedMatching MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:UnspecifiedMatching MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch SCTID:719817002 semapv:UnspecifiedMatching MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch UMLS:C1844936 semapv:UnspecifiedMatching MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch mesh:C537315 semapv:UnspecifiedMatching MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:exactMatch OMIM:301815 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay semapv:UnspecifiedMatching MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:exactMatch Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome semapv:UnspecifiedMatching MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:exactMatch SCTID:720746006 semapv:UnspecifiedMatching MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:UnspecifiedMatching MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:UnspecifiedMatching MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch SCTID:719836007 semapv:UnspecifiedMatching MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch UMLS:C1844934 semapv:UnspecifiedMatching MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch mesh:C535380 semapv:UnspecifiedMatching MONDO:0010533 Arts syndrome skos:exactMatch DOID:0050647 Arts syndrome semapv:UnspecifiedMatching MONDO:0010533 Arts syndrome skos:exactMatch OMIM:301835 arts syndrome semapv:UnspecifiedMatching MONDO:0010533 Arts syndrome skos:exactMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:UnspecifiedMatching MONDO:0010533 Arts syndrome skos:exactMatch SCTID:702441001 semapv:UnspecifiedMatching MONDO:0010533 Arts syndrome skos:exactMatch UMLS:C0796028 semapv:UnspecifiedMatching MONDO:0010533 Arts syndrome skos:exactMatch mesh:C535388 semapv:UnspecifiedMatching MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch DOID:0111832 X-linked spinocerebellar ataxia 4 semapv:UnspecifiedMatching MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:UnspecifiedMatching MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:UnspecifiedMatching MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch SCTID:719818007 semapv:UnspecifiedMatching MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch UMLS:C1844933 semapv:UnspecifiedMatching MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch mesh:C537316 semapv:UnspecifiedMatching MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch OMIM:301845 bazex-dupre-christol syndrome semapv:UnspecifiedMatching MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch Orphanet:113 Bazex-Dupré-Christol syndrome semapv:UnspecifiedMatching MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch Orphanet:166113 Bazex syndrome semapv:UnspecifiedMatching MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch SCTID:238640007 semapv:UnspecifiedMatching MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch SCTID:254820002 semapv:UnspecifiedMatching MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch UMLS:C0346104 semapv:UnspecifiedMatching MONDO:0010536 tubulin, beta skos:exactMatch OMIM:301850 tubulin, beta semapv:UnspecifiedMatching MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:exactMatch DOID:0050681 Borjeson-Forssman-Lehmann syndrome semapv:UnspecifiedMatching MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:exactMatch OMIM:301900 borjeson-forssman-lehmann syndrome semapv:UnspecifiedMatching MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:exactMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:UnspecifiedMatching MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:exactMatch SCTID:21634003 semapv:UnspecifiedMatching MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:exactMatch UMLS:C0265339 semapv:UnspecifiedMatching MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:exactMatch mesh:C536575 semapv:UnspecifiedMatching MONDO:0010538 Mononen-Karnes-Senac syndrome skos:exactMatch DOID:0110973 Mononen-Karnes-Senac syndrome semapv:UnspecifiedMatching MONDO:0010538 Mononen-Karnes-Senac syndrome skos:exactMatch OMIM:301940 brachydactyly, mononen iia semapv:UnspecifiedMatching MONDO:0010538 Mononen-Karnes-Senac syndrome skos:exactMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:UnspecifiedMatching MONDO:0010538 Mononen-Karnes-Senac syndrome skos:exactMatch SCTID:733095006 semapv:UnspecifiedMatching MONDO:0010538 Mononen-Karnes-Senac syndrome skos:exactMatch UMLS:C1844919 semapv:UnspecifiedMatching MONDO:0010538 Mononen-Karnes-Senac syndrome skos:exactMatch mesh:C535914 semapv:UnspecifiedMatching MONDO:0010539 X-linked mandibulofacial dysostosis skos:exactMatch OMIM:301950 branchial arch syndrome, X-linked semapv:UnspecifiedMatching MONDO:0010539 X-linked mandibulofacial dysostosis skos:exactMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:UnspecifiedMatching MONDO:0010539 X-linked mandibulofacial dysostosis skos:exactMatch SCTID:719813003 semapv:UnspecifiedMatching MONDO:0010539 X-linked mandibulofacial dysostosis skos:exactMatch UMLS:C1844918 semapv:UnspecifiedMatching MONDO:0010539 X-linked mandibulofacial dysostosis skos:exactMatch mesh:C537102 semapv:UnspecifiedMatching MONDO:0010540 bullous dystrophy, macular type skos:exactMatch OMIM:302000 bullous dystrophy, hereditary macular iia semapv:UnspecifiedMatching MONDO:0010540 bullous dystrophy, macular type skos:exactMatch Orphanet:1867 Hereditary bullous dystrophy, macular type semapv:UnspecifiedMatching MONDO:0010540 bullous dystrophy, macular type skos:exactMatch UMLS:C0795974 semapv:UnspecifiedMatching MONDO:0010540 bullous dystrophy, macular type skos:exactMatch mesh:C563065 semapv:UnspecifiedMatching MONDO:0010541 X-linked calvarial hyperostosis skos:exactMatch OMIM:302030 calvarial hyperostosis semapv:UnspecifiedMatching MONDO:0010541 X-linked calvarial hyperostosis skos:exactMatch Orphanet:391327 X-linked calvarial hyperostosis semapv:UnspecifiedMatching MONDO:0010541 X-linked calvarial hyperostosis skos:exactMatch mesh:C537963 semapv:UnspecifiedMatching MONDO:0010542 dilated cardiomyopathy 3B skos:exactMatch DOID:0081164 dilated cardiomyopathy 3B semapv:UnspecifiedMatching MONDO:0010542 dilated cardiomyopathy 3B skos:exactMatch DOID:0110461 X-linked dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0010542 dilated cardiomyopathy 3B skos:exactMatch OMIM:302045 cardiomyopathy, dilated, 3b semapv:UnspecifiedMatching MONDO:0010542 dilated cardiomyopathy 3B skos:exactMatch SCTID:702424003 semapv:UnspecifiedMatching MONDO:0010542 dilated cardiomyopathy 3B skos:exactMatch UMLS:C3668940 semapv:UnspecifiedMatching MONDO:0010542 dilated cardiomyopathy 3B skos:exactMatch mesh:C580047 semapv:UnspecifiedMatching MONDO:0010543 Barth syndrome skos:exactMatch DOID:0050476 Barth syndrome semapv:UnspecifiedMatching MONDO:0010543 Barth syndrome skos:exactMatch ICD10CM:E78.71 Barth syndrome semapv:UnspecifiedMatching MONDO:0010543 Barth syndrome skos:exactMatch NCIT:C84585 Barth Syndrome semapv:UnspecifiedMatching MONDO:0010543 Barth syndrome skos:exactMatch OMIM:302060 barth syndrome semapv:UnspecifiedMatching MONDO:0010543 Barth syndrome skos:exactMatch Orphanet:111 Barth syndrome semapv:UnspecifiedMatching MONDO:0010543 Barth syndrome skos:exactMatch SCTID:297231002 semapv:UnspecifiedMatching MONDO:0010543 Barth syndrome skos:exactMatch UMLS:C0574083 semapv:UnspecifiedMatching MONDO:0010543 Barth syndrome skos:exactMatch mesh:D056889 semapv:UnspecifiedMatching MONDO:0010544 cataract 40 skos:exactMatch DOID:0110272 cataract 40 semapv:UnspecifiedMatching MONDO:0010544 cataract 40 skos:exactMatch OMIM:302200 cataract 40 semapv:UnspecifiedMatching MONDO:0010544 cataract 40 skos:exactMatch mesh:C535338 semapv:UnspecifiedMatching MONDO:0010545 Nance-Horan syndrome skos:exactMatch DOID:0060599 Nance-Horan syndrome semapv:UnspecifiedMatching MONDO:0010545 Nance-Horan syndrome skos:exactMatch OMIM:302350 nance-horan syndrome semapv:UnspecifiedMatching MONDO:0010545 Nance-Horan syndrome skos:exactMatch Orphanet:627 Nance-Horan syndrome semapv:UnspecifiedMatching MONDO:0010545 Nance-Horan syndrome skos:exactMatch SCTID:445257004 semapv:UnspecifiedMatching MONDO:0010545 Nance-Horan syndrome skos:exactMatch UMLS:C0796085 semapv:UnspecifiedMatching MONDO:0010545 Nance-Horan syndrome skos:exactMatch mesh:C538336 semapv:UnspecifiedMatching MONDO:0010546 central incisors, absence of skos:exactMatch OMIM:302400 central incisors, absence of semapv:UnspecifiedMatching MONDO:0010547 X-linked progressive cerebellar ataxia skos:exactMatch DOID:0111829 X-linked spinocerebellar ataxia 1 semapv:UnspecifiedMatching MONDO:0010547 X-linked progressive cerebellar ataxia skos:exactMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:UnspecifiedMatching MONDO:0010547 X-linked progressive cerebellar ataxia skos:exactMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:UnspecifiedMatching MONDO:0010547 X-linked progressive cerebellar ataxia skos:exactMatch UMLS:C0796205 semapv:UnspecifiedMatching MONDO:0010547 X-linked progressive cerebellar ataxia skos:exactMatch mesh:C563134 semapv:UnspecifiedMatching MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:exactMatch DOID:0111830 X-linked spinocerebellar ataxia 2 semapv:UnspecifiedMatching MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:exactMatch OMIM:302600 spinocerebellar ataxia, X-linked 2 semapv:UnspecifiedMatching MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:exactMatch UMLS:C1844885 semapv:UnspecifiedMatching MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:exactMatch mesh:C537314 semapv:UnspecifiedMatching MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 semapv:UnspecifiedMatching MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch NCIT:C129068 Charcot-Marie-Tooth Neuropathy X Type 1 semapv:UnspecifiedMatching MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch OMIM:302800 charcot-marie-tooth disease, X-linked dominant, 1 semapv:UnspecifiedMatching MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:UnspecifiedMatching MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch SCTID:763455008 semapv:UnspecifiedMatching MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch UMLS:C0393808 semapv:UnspecifiedMatching MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:exactMatch DOID:0110208 Charcot-Marie-Tooth disease X-linked recessive 2 semapv:UnspecifiedMatching MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:exactMatch OMIM:302801 charcot-marie-tooth disease, X-linked recessive, 2 semapv:UnspecifiedMatching MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:exactMatch Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 semapv:UnspecifiedMatching MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:exactMatch SCTID:763457000 semapv:UnspecifiedMatching MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:exactMatch UMLS:C1844873 semapv:UnspecifiedMatching MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:exactMatch mesh:C535302 semapv:UnspecifiedMatching MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:exactMatch DOID:0110211 Charcot-Marie-Tooth disease X-linked recessive 3 semapv:UnspecifiedMatching MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:exactMatch OMIM:302802 charcot-marie-tooth disease, X-linked recessive, 3 semapv:UnspecifiedMatching MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:exactMatch Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 semapv:UnspecifiedMatching MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:exactMatch SCTID:763458005 semapv:UnspecifiedMatching MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:exactMatch UMLS:C1844865 semapv:UnspecifiedMatching MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:exactMatch mesh:C535303 semapv:UnspecifiedMatching MONDO:0010552 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita skos:exactMatch OMIM:302803 charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita semapv:UnspecifiedMatching MONDO:0010552 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita skos:exactMatch UMLS:C1844864 semapv:UnspecifiedMatching MONDO:0010552 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita skos:exactMatch mesh:C538077 semapv:UnspecifiedMatching MONDO:0010553 Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined skos:exactMatch OMIM:302900 charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined semapv:UnspecifiedMatching MONDO:0010553 Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined skos:exactMatch UMLS:C1844863 semapv:UnspecifiedMatching MONDO:0010553 Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined skos:exactMatch mesh:C564446 semapv:UnspecifiedMatching MONDO:0010554 Abruzzo-Erickson syndrome skos:exactMatch DOID:0111826 Abruzzo-Erickson syndrome semapv:UnspecifiedMatching MONDO:0010554 Abruzzo-Erickson syndrome skos:exactMatch OMIM:302905 abruzzo-erickson syndrome semapv:UnspecifiedMatching MONDO:0010554 Abruzzo-Erickson syndrome skos:exactMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:UnspecifiedMatching MONDO:0010554 Abruzzo-Erickson syndrome skos:exactMatch SCTID:718574003 semapv:UnspecifiedMatching MONDO:0010554 Abruzzo-Erickson syndrome skos:exactMatch UMLS:C1844862 semapv:UnspecifiedMatching MONDO:0010554 Abruzzo-Erickson syndrome skos:exactMatch mesh:C535559 semapv:UnspecifiedMatching MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:UnspecifiedMatching MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:UnspecifiedMatching MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch UMLS:C3669395 semapv:UnspecifiedMatching MONDO:0010556 X-linked chondrodysplasia punctata skos:exactMatch DOID:0060292 X-linked chondrodysplasia punctata 1 semapv:UnspecifiedMatching MONDO:0010556 X-linked chondrodysplasia punctata skos:exactMatch UMLS:C0263627 semapv:UnspecifiedMatching MONDO:0010557 choroideremia skos:exactMatch DOID:9821 choroideremia semapv:UnspecifiedMatching MONDO:0010557 choroideremia skos:exactMatch ICD10CM:H31.21 Choroideremia semapv:UnspecifiedMatching MONDO:0010557 choroideremia skos:exactMatch NCIT:C34469 Choroideremia semapv:UnspecifiedMatching MONDO:0010557 choroideremia skos:exactMatch OMIM:303100 choroideremia semapv:UnspecifiedMatching MONDO:0010557 choroideremia skos:exactMatch Orphanet:180 Choroideremia semapv:UnspecifiedMatching MONDO:0010557 choroideremia skos:exactMatch SCTID:75241009 semapv:UnspecifiedMatching MONDO:0010557 choroideremia skos:exactMatch UMLS:C0008525 semapv:UnspecifiedMatching MONDO:0010557 choroideremia skos:exactMatch mesh:D015794 semapv:UnspecifiedMatching MONDO:0010558 choroideremia-deafness-obesity syndrome skos:exactMatch OMIM:303110 chromosome xq21 deletion syndrome semapv:UnspecifiedMatching MONDO:0010558 choroideremia-deafness-obesity syndrome skos:exactMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0010558 choroideremia-deafness-obesity syndrome skos:exactMatch SCTID:717761005 semapv:UnspecifiedMatching MONDO:0010558 choroideremia-deafness-obesity syndrome skos:exactMatch UMLS:C3551019 semapv:UnspecifiedMatching MONDO:0010558 choroideremia-deafness-obesity syndrome skos:exactMatch mesh:C537793 semapv:UnspecifiedMatching MONDO:0010559 MASA syndrome skos:exactMatch DOID:0060246 MASA syndrome semapv:UnspecifiedMatching MONDO:0010559 MASA syndrome skos:exactMatch NCIT:C129930 MASA Syndrome semapv:UnspecifiedMatching MONDO:0010559 MASA syndrome skos:exactMatch OMIM:303350 masa syndrome semapv:UnspecifiedMatching MONDO:0010559 MASA syndrome skos:exactMatch Orphanet:2466 MASA syndrome semapv:UnspecifiedMatching MONDO:0010559 MASA syndrome skos:exactMatch SCTID:716996008 semapv:UnspecifiedMatching MONDO:0010559 MASA syndrome skos:exactMatch UMLS:C0795953 semapv:UnspecifiedMatching MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:exactMatch DOID:0060613 X-linked cleft palate with or without ankyloglossia semapv:UnspecifiedMatching MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:exactMatch OMIM:303400 cleft palate with or without ankyloglossia, X-linked semapv:UnspecifiedMatching MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:exactMatch Orphanet:324601 X-linked cleft palate and ankyloglossia semapv:UnspecifiedMatching MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:exactMatch SCTID:766761000 semapv:UnspecifiedMatching MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:exactMatch mesh:C536426 semapv:UnspecifiedMatching MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch DOID:3783 Coffin-Lowry syndrome semapv:UnspecifiedMatching MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch NCIT:C84643 Coffin-Lowry Syndrome semapv:UnspecifiedMatching MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch OMIM:303600 coffin-lowry syndrome semapv:UnspecifiedMatching MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch Orphanet:192 Coffin-Lowry syndrome semapv:UnspecifiedMatching MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch SCTID:15182000 semapv:UnspecifiedMatching MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch UMLS:C0265252 semapv:UnspecifiedMatching MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch mesh:C536435 semapv:UnspecifiedMatching MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch mesh:D038921 semapv:UnspecifiedMatching MONDO:0010562 colonic atresia skos:exactMatch NCIT:C101024 Colon Atresia semapv:UnspecifiedMatching MONDO:0010562 colonic atresia skos:exactMatch OMIM:303650 colonic atresia semapv:UnspecifiedMatching MONDO:0010562 colonic atresia skos:exactMatch Orphanet:1198 Colonic atresia semapv:UnspecifiedMatching MONDO:0010562 colonic atresia skos:exactMatch SCTID:37054000 semapv:UnspecifiedMatching MONDO:0010562 colonic atresia skos:exactMatch mesh:C562562 semapv:UnspecifiedMatching MONDO:0010563 blue cone monochromacy skos:exactMatch DOID:0050679 blue cone monochromacy semapv:UnspecifiedMatching MONDO:0010563 blue cone monochromacy skos:exactMatch OMIM:303700 blue cone monochromacy semapv:UnspecifiedMatching MONDO:0010563 blue cone monochromacy skos:exactMatch Orphanet:16 Blue cone monochromatism semapv:UnspecifiedMatching MONDO:0010563 blue cone monochromacy skos:exactMatch SCTID:24704003 semapv:UnspecifiedMatching MONDO:0010563 blue cone monochromacy skos:exactMatch UMLS:C0339537 semapv:UnspecifiedMatching MONDO:0010563 blue cone monochromacy skos:exactMatch mesh:C536238 semapv:UnspecifiedMatching MONDO:0010564 red-green color blindness skos:exactMatch DOID:13909 red-green color blindness semapv:UnspecifiedMatching MONDO:0010564 red-green color blindness skos:exactMatch ICD10CM:H53.53 Deuteranomaly semapv:UnspecifiedMatching MONDO:0010564 red-green color blindness skos:exactMatch OMIM:303800 colorblindness, partial, deutan series semapv:UnspecifiedMatching MONDO:0010564 red-green color blindness skos:exactMatch SCTID:77479002 semapv:UnspecifiedMatching MONDO:0010564 red-green color blindness skos:exactMatch UMLS:C0155016 semapv:UnspecifiedMatching MONDO:0010565 red color blindness skos:exactMatch DOID:13910 red color blindness semapv:UnspecifiedMatching MONDO:0010565 red color blindness skos:exactMatch ICD10CM:H53.54 Protanomaly semapv:UnspecifiedMatching MONDO:0010565 red color blindness skos:exactMatch OMIM:303900 colorblindness, partial, protan series semapv:UnspecifiedMatching MONDO:0010565 red color blindness skos:exactMatch SCTID:51445007 semapv:UnspecifiedMatching MONDO:0010566 X-linked cone-rod dystrophy 1 skos:exactMatch DOID:0111008 X-linked cone-rod dystrophy 1 semapv:UnspecifiedMatching MONDO:0010566 X-linked cone-rod dystrophy 1 skos:exactMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:UnspecifiedMatching MONDO:0010566 X-linked cone-rod dystrophy 1 skos:exactMatch mesh:C564438 semapv:UnspecifiedMatching MONDO:0010567 cone dystrophy, X-linked, with tapetal-like sheen skos:exactMatch OMIM:304030 cone dystrophy, x-linked, with tapetal-like sheen semapv:UnspecifiedMatching MONDO:0010567 cone dystrophy, X-linked, with tapetal-like sheen skos:exactMatch UMLS:C1844775 semapv:UnspecifiedMatching MONDO:0010567 cone dystrophy, X-linked, with tapetal-like sheen skos:exactMatch mesh:C535975 semapv:UnspecifiedMatching MONDO:0010568 Aicardi syndrome skos:exactMatch DOID:8461 Aicardi syndrome semapv:UnspecifiedMatching MONDO:0010568 Aicardi syndrome skos:exactMatch NCIT:C35256 Aicardi Syndrome semapv:UnspecifiedMatching MONDO:0010568 Aicardi syndrome skos:exactMatch OMIM:304050 aicardi syndrome semapv:UnspecifiedMatching MONDO:0010568 Aicardi syndrome skos:exactMatch Orphanet:50 Aicardi syndrome semapv:UnspecifiedMatching MONDO:0010568 Aicardi syndrome skos:exactMatch SCTID:80651009 semapv:UnspecifiedMatching MONDO:0010568 Aicardi syndrome skos:exactMatch UMLS:C0175713 semapv:UnspecifiedMatching MONDO:0010568 Aicardi syndrome skos:exactMatch mesh:D058540 semapv:UnspecifiedMatching MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:exactMatch OMIM:304100 corpus callosum, partial agenesis of, X-linked semapv:UnspecifiedMatching MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:exactMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:UnspecifiedMatching MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:exactMatch UMLS:C1839909 semapv:UnspecifiedMatching MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:exactMatch mesh:C564115 semapv:UnspecifiedMatching MONDO:0010570 craniofrontonasal syndrome skos:exactMatch DOID:14737 craniofrontonasal syndrome semapv:UnspecifiedMatching MONDO:0010570 craniofrontonasal syndrome skos:exactMatch OMIM:304110 craniofrontonasal syndrome semapv:UnspecifiedMatching MONDO:0010570 craniofrontonasal syndrome skos:exactMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:UnspecifiedMatching MONDO:0010570 craniofrontonasal syndrome skos:exactMatch SCTID:715421009 semapv:UnspecifiedMatching MONDO:0010570 craniofrontonasal syndrome skos:exactMatch UMLS:C0220767 semapv:UnspecifiedMatching MONDO:0010570 craniofrontonasal syndrome skos:exactMatch mesh:C536456 semapv:UnspecifiedMatching MONDO:0010571 otopalatodigital syndrome type 2 skos:exactMatch DOID:0111784 otopalatodigital syndrome type 2 semapv:UnspecifiedMatching MONDO:0010571 otopalatodigital syndrome type 2 skos:exactMatch OMIM:304120 otopalatodigital syndrome, iia 2 semapv:UnspecifiedMatching MONDO:0010571 otopalatodigital syndrome type 2 skos:exactMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:UnspecifiedMatching MONDO:0010571 otopalatodigital syndrome type 2 skos:exactMatch SCTID:42432003 semapv:UnspecifiedMatching MONDO:0010571 otopalatodigital syndrome type 2 skos:exactMatch mesh:C538089 semapv:UnspecifiedMatching MONDO:0010572 occipital horn syndrome skos:exactMatch DOID:0111272 occipital horn syndrome semapv:UnspecifiedMatching MONDO:0010572 occipital horn syndrome skos:exactMatch OMIM:304150 occipital horn syndrome semapv:UnspecifiedMatching MONDO:0010572 occipital horn syndrome skos:exactMatch Orphanet:198 Occipital horn syndrome semapv:UnspecifiedMatching MONDO:0010572 occipital horn syndrome skos:exactMatch SCTID:59399004 semapv:UnspecifiedMatching MONDO:0010572 occipital horn syndrome skos:exactMatch mesh:C537860 semapv:UnspecifiedMatching MONDO:0010573 cutis verticis gyrata, thyroid aplasia, and intellectual disability skos:exactMatch OMIM:304200 cutis verticis gyrata, thyroid aplasia, and mental retardation semapv:UnspecifiedMatching MONDO:0010573 cutis verticis gyrata, thyroid aplasia, and intellectual disability skos:exactMatch UMLS:C0795848 semapv:UnspecifiedMatching MONDO:0010573 cutis verticis gyrata, thyroid aplasia, and intellectual disability skos:exactMatch mesh:C535610 semapv:UnspecifiedMatching MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch DOID:0060800 syndromic X-linked intellectual disability 5 semapv:UnspecifiedMatching MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch NCIT:C124839 Pettigrew Syndrome semapv:UnspecifiedMatching MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch OMIM:304340 pettigrew syndrome semapv:UnspecifiedMatching MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:UnspecifiedMatching MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome semapv:UnspecifiedMatching MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch SCTID:719139003 semapv:UnspecifiedMatching MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch UMLS:C0796254 semapv:UnspecifiedMatching MONDO:0010575 deafness-hypogonadism syndrome skos:exactMatch OMIM:304350 deafness-hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0010575 deafness-hypogonadism syndrome skos:exactMatch Orphanet:90646 Deafness-hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0010575 deafness-hypogonadism syndrome skos:exactMatch mesh:C564435 semapv:UnspecifiedMatching MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch DOID:0111737 X-linked deafness 2 semapv:UnspecifiedMatching MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch OMIM:304400 deafness, X-linked 2 semapv:UnspecifiedMatching MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch UMLS:C1844678 semapv:UnspecifiedMatching MONDO:0010577 hearing loss, X-linked 1 skos:exactMatch DOID:0111739 X-linked deafness 1 semapv:UnspecifiedMatching MONDO:0010577 hearing loss, X-linked 1 skos:exactMatch OMIM:304500 deafness, X-linked 1 semapv:UnspecifiedMatching MONDO:0010577 hearing loss, X-linked 1 skos:exactMatch UMLS:C1844677 semapv:UnspecifiedMatching MONDO:0010577 hearing loss, X-linked 1 skos:exactMatch mesh:C564433 semapv:UnspecifiedMatching MONDO:0010578 deafness dystonia syndrome skos:exactMatch DOID:0050757 deafness-dystonia-optic neuronopathy syndrome semapv:UnspecifiedMatching MONDO:0010578 deafness dystonia syndrome skos:exactMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:UnspecifiedMatching MONDO:0010578 deafness dystonia syndrome skos:exactMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:UnspecifiedMatching MONDO:0010578 deafness dystonia syndrome skos:exactMatch SCTID:702423009 semapv:UnspecifiedMatching MONDO:0010578 deafness dystonia syndrome skos:exactMatch UMLS:C0796074 semapv:UnspecifiedMatching MONDO:0010578 deafness dystonia syndrome skos:exactMatch mesh:C535808 semapv:UnspecifiedMatching MONDO:0010579 X-linked corneal dermoid skos:exactMatch OMIM:304730 dermoids of cornea semapv:UnspecifiedMatching MONDO:0010579 X-linked corneal dermoid skos:exactMatch Orphanet:1661 X-linked corneal dermoid semapv:UnspecifiedMatching MONDO:0010579 X-linked corneal dermoid skos:exactMatch SCTID:715426004 semapv:UnspecifiedMatching MONDO:0010579 X-linked corneal dermoid skos:exactMatch UMLS:C1844671 semapv:UnspecifiedMatching MONDO:0010579 X-linked corneal dermoid skos:exactMatch mesh:C535376 semapv:UnspecifiedMatching MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:UnspecifiedMatching MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch NCIT:C131009 Immune Dysregulation, Polyendocrinopathy, and Enteropathy X-Linked Syndrome semapv:UnspecifiedMatching MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:UnspecifiedMatching MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:UnspecifiedMatching MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch SCTID:237618001 semapv:UnspecifiedMatching MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch mesh:C580192 semapv:UnspecifiedMatching MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:exactMatch DOID:0081060 X-linked nephrogenic diabetes insipidus semapv:UnspecifiedMatching MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:exactMatch OMIM:304800 diabetes insipidus, nephrogenic, 1, X-linked semapv:UnspecifiedMatching MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:exactMatch UMLS:C1563705 semapv:UnspecifiedMatching MONDO:0010582 obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance skos:exactMatch DOID:0081059 X-linked central diabetes insipidus semapv:UnspecifiedMatching MONDO:0010582 obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance skos:exactMatch OMIM:304900 diabetes insipidus, neurohypophyseal, X-linked semapv:UnspecifiedMatching MONDO:0010582 obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance skos:exactMatch UMLS:CN074293 semapv:UnspecifiedMatching MONDO:0010583 Dyggve-Melchior-Clausen syndrome, X-linked skos:exactMatch OMIM:304950 dyggve-melchior-clausen syndrome, X-linked semapv:UnspecifiedMatching MONDO:0010583 Dyggve-Melchior-Clausen syndrome, X-linked skos:exactMatch UMLS:C1844654 semapv:UnspecifiedMatching MONDO:0010584 dyskeratosis congenita, X-linked skos:exactMatch DOID:0070025 X-linked dyskeratosis congenita semapv:UnspecifiedMatching MONDO:0010584 dyskeratosis congenita, X-linked skos:exactMatch NCIT:C126352 X-Linked Dyskeratosis Congenita semapv:UnspecifiedMatching MONDO:0010584 dyskeratosis congenita, X-linked skos:exactMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:UnspecifiedMatching MONDO:0010584 dyskeratosis congenita, X-linked skos:exactMatch SCTID:708536001 semapv:UnspecifiedMatching MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch DOID:0111664 ectodermal dysplasia 1 semapv:UnspecifiedMatching MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:UnspecifiedMatching MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch Orphanet:181 X-linked hypohidrotic ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch SCTID:239007005 semapv:UnspecifiedMatching MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:exactMatch NCIT:C141423 Ehlers-Danlos Syndrome, Type V semapv:UnspecifiedMatching MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:exactMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:exactMatch SCTID:67202007 semapv:UnspecifiedMatching MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:exactMatch UMLS:C0268341 semapv:UnspecifiedMatching MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:exactMatch mesh:C536197 semapv:UnspecifiedMatching MONDO:0010587 epidermodysplasia verruciformis, X-linked skos:exactMatch OMIM:305350 epidermodysplasia verruciformis, X-linked semapv:UnspecifiedMatching MONDO:0010587 epidermodysplasia verruciformis, X-linked skos:exactMatch UMLS:C1844589 semapv:UnspecifiedMatching MONDO:0010587 epidermodysplasia verruciformis, X-linked skos:exactMatch mesh:C564430 semapv:UnspecifiedMatching MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:exactMatch DOID:0111413 X-linked exudative vitreoretinopathy 2 semapv:UnspecifiedMatching MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:exactMatch OMIM:305390 exudative vitreoretinopathy 2, X-linked semapv:UnspecifiedMatching MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:exactMatch UMLS:C1844579 semapv:UnspecifiedMatching MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:exactMatch mesh:C564428 semapv:UnspecifiedMatching MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:exactMatch DOID:6683 X-linked Aarskog syndrome semapv:UnspecifiedMatching MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:exactMatch NCIT:C129720 Aarskog Syndrome semapv:UnspecifiedMatching MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:exactMatch OMIM:305400 aarskog-scott syndrome semapv:UnspecifiedMatching MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:exactMatch SCTID:14921002 semapv:UnspecifiedMatching MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:exactMatch mesh:C535331 semapv:UnspecifiedMatching MONDO:0010590 FG syndrome 1 skos:exactMatch OMIM:305450 opitz-kaveggia syndrome semapv:UnspecifiedMatching MONDO:0010590 FG syndrome 1 skos:exactMatch Orphanet:93932 FG syndrome type 1 semapv:UnspecifiedMatching MONDO:0010590 FG syndrome 1 skos:exactMatch UMLS:C5399762 semapv:UnspecifiedMatching MONDO:0010591 fingerprint body myopathy skos:exactMatch OMIM:305550 fingerprint body myopathy semapv:UnspecifiedMatching MONDO:0010591 fingerprint body myopathy skos:exactMatch Orphanet:97232 Fingerprint body myopathy semapv:UnspecifiedMatching MONDO:0010591 fingerprint body myopathy skos:exactMatch UMLS:C1844560 semapv:UnspecifiedMatching MONDO:0010591 fingerprint body myopathy skos:exactMatch mesh:C564425 semapv:UnspecifiedMatching MONDO:0010592 focal dermal hypoplasia skos:exactMatch DOID:2120 focal dermal hypoplasia semapv:UnspecifiedMatching MONDO:0010592 focal dermal hypoplasia skos:exactMatch NCIT:C84715 Focal Dermal Hypoplasia semapv:UnspecifiedMatching MONDO:0010592 focal dermal hypoplasia skos:exactMatch OMIM:305600 focal dermal hypoplasia semapv:UnspecifiedMatching MONDO:0010592 focal dermal hypoplasia skos:exactMatch Orphanet:2092 Focal dermal hypoplasia semapv:UnspecifiedMatching MONDO:0010592 focal dermal hypoplasia skos:exactMatch SCTID:205573006 semapv:UnspecifiedMatching MONDO:0010592 focal dermal hypoplasia skos:exactMatch UMLS:C0016395 semapv:UnspecifiedMatching MONDO:0010592 focal dermal hypoplasia skos:exactMatch mesh:D005489 semapv:UnspecifiedMatching MONDO:0010594 obsolete inherited genitourinary tract anomalies skos:exactMatch OMIM:305690 genitourinary tract anomalies semapv:UnspecifiedMatching MONDO:0010594 obsolete inherited genitourinary tract anomalies skos:exactMatch mesh:C564424 semapv:UnspecifiedMatching MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch DOID:0050457 Sertoli cell-only syndrome semapv:UnspecifiedMatching MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch NCIT:C168988 Sertoli Cell-Only Syndrome semapv:UnspecifiedMatching MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch SCTID:73465006 semapv:UnspecifiedMatching MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch mesh:D054331 semapv:UnspecifiedMatching MONDO:0010596 membranoproliferative glomerulonephritis, X-linked skos:exactMatch OMIM:305800 membranoproliferative glomerulonephritis, X-linked semapv:UnspecifiedMatching MONDO:0010596 membranoproliferative glomerulonephritis, X-linked skos:exactMatch UMLS:C1844501 semapv:UnspecifiedMatching MONDO:0010596 membranoproliferative glomerulonephritis, X-linked skos:exactMatch mesh:C564423 semapv:UnspecifiedMatching MONDO:0010597 glutamyl ribose-5-phosphate storage disease skos:exactMatch OMIM:305920 glutamyl ribose-5-phosphate storage disease semapv:UnspecifiedMatching MONDO:0010597 glutamyl ribose-5-phosphate storage disease skos:exactMatch UMLS:C1844440 semapv:UnspecifiedMatching MONDO:0010597 glutamyl ribose-5-phosphate storage disease skos:exactMatch mesh:C564422 semapv:UnspecifiedMatching MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch DOID:0111042 glycogen storage disease IXa semapv:UnspecifiedMatching MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch DOID:2751 glycogen storage disease VIII semapv:UnspecifiedMatching MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch OMIM:306000 glycogen storage disease ixa1 semapv:UnspecifiedMatching MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch SCTID:41527003 semapv:UnspecifiedMatching MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch mesh:C564421 semapv:UnspecifiedMatching MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch mesh:D006015 semapv:UnspecifiedMatching MONDO:0010599 granulomas, congenital cerebral skos:exactMatch OMIM:306300 granulomas, congenital cerebral semapv:UnspecifiedMatching MONDO:0010599 granulomas, congenital cerebral skos:exactMatch UMLS:C1844406 semapv:UnspecifiedMatching MONDO:0010599 granulomas, congenital cerebral skos:exactMatch mesh:C537294 semapv:UnspecifiedMatching MONDO:0010600 granulomatous disease, chronic, X-linked skos:exactMatch DOID:0070195 X-linked chronic granulomatous disease semapv:UnspecifiedMatching MONDO:0010600 granulomatous disease, chronic, X-linked skos:exactMatch OMIM:306400 granulomatous disease, chronic, X-linked semapv:UnspecifiedMatching MONDO:0010600 granulomatous disease, chronic, X-linked skos:exactMatch UMLS:C1844376 semapv:UnspecifiedMatching MONDO:0010600 granulomatous disease, chronic, X-linked skos:exactMatch mesh:C564210 semapv:UnspecifiedMatching MONDO:0010601 obsolete gynecomastia, familial skos:exactMatch OMIM:306500 semapv:UnspecifiedMatching MONDO:0010601 obsolete gynecomastia, familial skos:exactMatch UMLS:C1844375 semapv:UnspecifiedMatching MONDO:0010601 obsolete gynecomastia, familial skos:exactMatch mesh:C564416 semapv:UnspecifiedMatching MONDO:0010602 hemophilia A skos:exactMatch DOID:12134 factor VIII deficiency semapv:UnspecifiedMatching MONDO:0010602 hemophilia A skos:exactMatch NCIT:C27146 Hemophilia A semapv:UnspecifiedMatching MONDO:0010602 hemophilia A skos:exactMatch OMIM:134500 factor 8 deficiency semapv:UnspecifiedMatching MONDO:0010602 hemophilia A skos:exactMatch OMIM:306700 hemophilia a semapv:UnspecifiedMatching MONDO:0010602 hemophilia A skos:exactMatch Orphanet:98878 Hemophilia A semapv:UnspecifiedMatching MONDO:0010602 hemophilia A skos:exactMatch SCTID:234440005 semapv:UnspecifiedMatching MONDO:0010602 hemophilia A skos:exactMatch UMLS:C0019069 semapv:UnspecifiedMatching MONDO:0010602 hemophilia A skos:exactMatch mesh:D006467 semapv:UnspecifiedMatching MONDO:0010603 hemophilia A with vascular abnormality skos:exactMatch OMIM:306800 hemophilia a with vascular abnormality semapv:UnspecifiedMatching MONDO:0010603 hemophilia A with vascular abnormality skos:exactMatch UMLS:C1844137 semapv:UnspecifiedMatching MONDO:0010603 hemophilia A with vascular abnormality skos:exactMatch mesh:C564415 semapv:UnspecifiedMatching MONDO:0010604 hemophilia B skos:exactMatch DOID:12259 hemophilia B semapv:UnspecifiedMatching MONDO:0010604 hemophilia B skos:exactMatch NCIT:C26721 Hemophilia B semapv:UnspecifiedMatching MONDO:0010604 hemophilia B skos:exactMatch OMIM:306900 hemophilia B semapv:UnspecifiedMatching MONDO:0010604 hemophilia B skos:exactMatch Orphanet:98879 Hemophilia B semapv:UnspecifiedMatching MONDO:0010604 hemophilia B skos:exactMatch SCTID:41788008 semapv:UnspecifiedMatching MONDO:0010604 hemophilia B skos:exactMatch UMLS:C0008533 semapv:UnspecifiedMatching MONDO:0010604 hemophilia B skos:exactMatch mesh:D002836 semapv:UnspecifiedMatching MONDO:0010605 hemopoietic proliferation skos:exactMatch OMIM:306930 hemopoietic proliferation semapv:UnspecifiedMatching MONDO:0010606 hernia, anterior diaphragmatic skos:exactMatch OMIM:306950 diaphragmatic hernia 5, X-linked semapv:UnspecifiedMatching MONDO:0010606 hernia, anterior diaphragmatic skos:exactMatch mesh:C564413 semapv:UnspecifiedMatching MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:exactMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:UnspecifiedMatching MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:exactMatch UMLS:C1844020 semapv:UnspecifiedMatching MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:exactMatch mesh:C538116 semapv:UnspecifiedMatching MONDO:0010608 Hhhh syndrome skos:exactMatch OMIM:306960 hhhh syndrome semapv:UnspecifiedMatching MONDO:0010608 Hhhh syndrome skos:exactMatch UMLS:C1844019 semapv:UnspecifiedMatching MONDO:0010608 Hhhh syndrome skos:exactMatch mesh:C564411 semapv:UnspecifiedMatching MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:exactMatch OMIM:306990 microhydranencephaly, X-linked semapv:UnspecifiedMatching MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:exactMatch Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome semapv:UnspecifiedMatching MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:exactMatch SCTID:716169009 semapv:UnspecifiedMatching MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:exactMatch mesh:C564409 semapv:UnspecifiedMatching MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:UnspecifiedMatching MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:UnspecifiedMatching MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch SCTID:71779008 semapv:UnspecifiedMatching MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch mesh:C536078 semapv:UnspecifiedMatching MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:exactMatch OMIM:307010 hydrocephalus with cerebellar agenesis semapv:UnspecifiedMatching MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:exactMatch Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome semapv:UnspecifiedMatching MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:exactMatch UMLS:C1844005 semapv:UnspecifiedMatching MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:exactMatch mesh:C564407 semapv:UnspecifiedMatching MONDO:0010613 inborn glycerol kinase deficiency skos:exactMatch DOID:0060363 glycerol kinase deficiency semapv:UnspecifiedMatching MONDO:0010613 inborn glycerol kinase deficiency skos:exactMatch OMIM:307030 glycerol kinase deficiency semapv:UnspecifiedMatching MONDO:0010613 inborn glycerol kinase deficiency skos:exactMatch Orphanet:308993 Glycerol kinase deficiency semapv:UnspecifiedMatching MONDO:0010613 inborn glycerol kinase deficiency skos:exactMatch SCTID:124322002 semapv:UnspecifiedMatching MONDO:0010614 X-linked congenital generalized hypertrichosis skos:exactMatch OMIM:307150 hypertrichosis, congenital generalized semapv:UnspecifiedMatching MONDO:0010614 X-linked congenital generalized hypertrichosis skos:exactMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:UnspecifiedMatching MONDO:0010614 X-linked congenital generalized hypertrichosis skos:exactMatch mesh:C538388 semapv:UnspecifiedMatching MONDO:0010615 isolated growth hormone deficiency type III skos:exactMatch DOID:0060875 isolated growth hormone deficiency type III semapv:UnspecifiedMatching MONDO:0010615 isolated growth hormone deficiency type III skos:exactMatch OMIM:307200 isolated growth hormone deficiency, iia iii, with agammaglobulinemia semapv:UnspecifiedMatching MONDO:0010615 isolated growth hormone deficiency type III skos:exactMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:UnspecifiedMatching MONDO:0010615 isolated growth hormone deficiency type III skos:exactMatch SCTID:234533006 semapv:UnspecifiedMatching MONDO:0010615 isolated growth hormone deficiency type III skos:exactMatch mesh:C537149 semapv:UnspecifiedMatching MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:exactMatch OMIM:307500 hypogonadism, male, with mental retardation and skeletal anomalies semapv:UnspecifiedMatching MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:exactMatch Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome semapv:UnspecifiedMatching MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:exactMatch SCTID:722459008 semapv:UnspecifiedMatching MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:exactMatch mesh:C564406 semapv:UnspecifiedMatching MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch DOID:0111388 X-linked hypoparathyroidism semapv:UnspecifiedMatching MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch NCIT:C131079 X-Linked Hypoparathyroidism semapv:UnspecifiedMatching MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch OMIM:307700 hypoparathyroidism, X-linked semapv:UnspecifiedMatching MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:UnspecifiedMatching MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch UMLS:C0342344 semapv:UnspecifiedMatching MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch mesh:C563238 semapv:UnspecifiedMatching MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch DOID:0050445 X-linked dominant hypophosphatemic rickets semapv:UnspecifiedMatching MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets semapv:UnspecifiedMatching MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:UnspecifiedMatching MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch Orphanet:89936 X-linked hypophosphatemia semapv:UnspecifiedMatching MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch SCTID:82236004 semapv:UnspecifiedMatching MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion skos:exactMatch OMIM:307830 hypouricemia, familial renal, due to tubular hypersecretion semapv:UnspecifiedMatching MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion skos:exactMatch UMLS:C1843972 semapv:UnspecifiedMatching MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion skos:exactMatch mesh:C564405 semapv:UnspecifiedMatching MONDO:0010621 CHILD syndrome skos:exactMatch DOID:0111822 CHILD syndrome semapv:UnspecifiedMatching MONDO:0010621 CHILD syndrome skos:exactMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:UnspecifiedMatching MONDO:0010621 CHILD syndrome skos:exactMatch Orphanet:139 CHILD syndrome semapv:UnspecifiedMatching MONDO:0010621 CHILD syndrome skos:exactMatch SCTID:17608003 semapv:UnspecifiedMatching MONDO:0010621 CHILD syndrome skos:exactMatch UMLS:C0265267 semapv:UnspecifiedMatching MONDO:0010621 CHILD syndrome skos:exactMatch mesh:C562515 semapv:UnspecifiedMatching MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch DOID:1700 X-linked ichthyosis semapv:UnspecifiedMatching MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch NCIT:C84779 X-Linked Ichthyosis semapv:UnspecifiedMatching MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch OMIM:308100 ichthyosis, X-linked semapv:UnspecifiedMatching MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch Orphanet:461 Recessive X-linked ichthyosis semapv:UnspecifiedMatching MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch SCTID:3944006 semapv:UnspecifiedMatching MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch UMLS:C0079588 semapv:UnspecifiedMatching MONDO:0010623 ichthyosis and male hypogonadism skos:exactMatch OMIM:308200 ichthyosis and male hypogonadism semapv:UnspecifiedMatching MONDO:0010623 ichthyosis and male hypogonadism skos:exactMatch SCTID:2355008 semapv:UnspecifiedMatching MONDO:0010623 ichthyosis and male hypogonadism skos:exactMatch UMLS:C1839989 semapv:UnspecifiedMatching MONDO:0010623 ichthyosis and male hypogonadism skos:exactMatch mesh:C537365 semapv:UnspecifiedMatching MONDO:0010625 immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein skos:exactMatch OMIM:308220 immunodeficiency, x-linked, with deficiency of 115,000 dalton surface glycoprotein semapv:UnspecifiedMatching MONDO:0010625 immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein skos:exactMatch UMLS:C1839982 semapv:UnspecifiedMatching MONDO:0010625 immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein skos:exactMatch mesh:C564120 semapv:UnspecifiedMatching MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch DOID:0060022 CD40 ligand deficiency semapv:UnspecifiedMatching MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch DOID:6620 X-linked hyper IgM syndrome semapv:UnspecifiedMatching MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch NCIT:C61244 CD40 Ligand Deficiency semapv:UnspecifiedMatching MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:UnspecifiedMatching MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:UnspecifiedMatching MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch SCTID:403835002 semapv:UnspecifiedMatching MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch UMLS:C0398689 semapv:UnspecifiedMatching MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch DOID:0060705 X-linked lymphoproliferative syndrome 1 semapv:UnspecifiedMatching MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch NCIT:C61246 X-Linked Lymphoproliferative Syndrome semapv:UnspecifiedMatching MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:UnspecifiedMatching MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch SCTID:77121009 semapv:UnspecifiedMatching MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch UMLS:C0549463 semapv:UnspecifiedMatching MONDO:0010628 immunoglobulin M, level of skos:exactMatch OMIM:308250 immunoglobulin m, level of semapv:UnspecifiedMatching MONDO:0010629 impacted teeth, multiple skos:exactMatch OMIM:308280 impacted teeth, multiple semapv:UnspecifiedMatching MONDO:0010630 imprinting gene related to retinoblastoma skos:exactMatch OMIM:308290 imprinting gene related to retinoblastoma semapv:UnspecifiedMatching MONDO:0010631 incontinentia pigmenti skos:exactMatch DOID:12305 Bloch-Sulzberger syndrome semapv:UnspecifiedMatching MONDO:0010631 incontinentia pigmenti skos:exactMatch NCIT:C84787 Incontinentia Pigmenti semapv:UnspecifiedMatching MONDO:0010631 incontinentia pigmenti skos:exactMatch OMIM:308300 incontinentia pigmenti semapv:UnspecifiedMatching MONDO:0010631 incontinentia pigmenti skos:exactMatch Orphanet:464 Incontinentia pigmenti semapv:UnspecifiedMatching MONDO:0010631 incontinentia pigmenti skos:exactMatch SCTID:367520004 semapv:UnspecifiedMatching MONDO:0010631 incontinentia pigmenti skos:exactMatch UMLS:C0021171 semapv:UnspecifiedMatching MONDO:0010631 incontinentia pigmenti skos:exactMatch mesh:D007184 semapv:UnspecifiedMatching MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:exactMatch DOID:0080468 developmental and epileptic encephalopathy 1 semapv:UnspecifiedMatching MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:exactMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:UnspecifiedMatching MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:exactMatch UMLS:C3463992 semapv:UnspecifiedMatching MONDO:0010633 iris hypoplasia with glaucoma skos:exactMatch OMIM:308500 iris hypoplasia with glaucoma semapv:UnspecifiedMatching MONDO:0010633 iris hypoplasia with glaucoma skos:exactMatch UMLS:C1839928 semapv:UnspecifiedMatching MONDO:0010633 iris hypoplasia with glaucoma skos:exactMatch mesh:C535538 semapv:UnspecifiedMatching MONDO:0010634 jaundice, familial obstructive, of infancy skos:exactMatch OMIM:308600 jaundice, familial obstructive, of infancy semapv:UnspecifiedMatching MONDO:0010634 jaundice, familial obstructive, of infancy skos:exactMatch UMLS:C1839927 semapv:UnspecifiedMatching MONDO:0010634 jaundice, familial obstructive, of infancy skos:exactMatch mesh:C564118 semapv:UnspecifiedMatching MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:exactMatch DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia semapv:UnspecifiedMatching MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:exactMatch NCIT:C75480 Kallmann Syndrome 1 semapv:UnspecifiedMatching MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:exactMatch OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia semapv:UnspecifiedMatching MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:exactMatch UMLS:C1563719 semapv:UnspecifiedMatching MONDO:0010636 Kallmann syndrome with spastic paraplegia skos:exactMatch OMIM:308750 kallmann syndrome with spastic paraplegia semapv:UnspecifiedMatching MONDO:0010636 Kallmann syndrome with spastic paraplegia skos:exactMatch UMLS:C1839911 semapv:UnspecifiedMatching MONDO:0010636 Kallmann syndrome with spastic paraplegia skos:exactMatch mesh:C536873 semapv:UnspecifiedMatching MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:exactMatch DOID:0080754 X-linked keratosis follicularis spinulosa decalvans semapv:UnspecifiedMatching MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:exactMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:UnspecifiedMatching MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:exactMatch UMLS:C3887525 semapv:UnspecifiedMatching MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:exactMatch mesh:C536159 semapv:UnspecifiedMatching MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:exactMatch OMIM:308830 keratosis follicularis, dwarfism, and cerebral atrophy semapv:UnspecifiedMatching MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:exactMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:UnspecifiedMatching MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:exactMatch UMLS:C1839910 semapv:UnspecifiedMatching MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:exactMatch mesh:C536158 semapv:UnspecifiedMatching MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:exactMatch OMIM:308850 laryngeal abductor paralysis semapv:UnspecifiedMatching MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:exactMatch Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:exactMatch SCTID:724178000 semapv:UnspecifiedMatching MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:exactMatch UMLS:C4319572 semapv:UnspecifiedMatching MONDO:0010640 Leber optic atrophy, susceptibility to skos:exactMatch OMIM:308905 leber hereditary optic neuropathy, modifier of semapv:UnspecifiedMatching MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:exactMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:UnspecifiedMatching MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:exactMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:UnspecifiedMatching MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:exactMatch mesh:C537113 semapv:UnspecifiedMatching MONDO:0010642 Lesch-Nyhan phenotype with normal HGPRT skos:exactMatch OMIM:308950 lesch-nyhan phenotype with normal hgprt semapv:UnspecifiedMatching MONDO:0010643 acute leukemia skos:exactMatch DOID:12603 acute leukemia semapv:UnspecifiedMatching MONDO:0010643 acute leukemia skos:exactMatch NCIT:C9300 Acute Leukemia semapv:UnspecifiedMatching MONDO:0010643 acute leukemia skos:exactMatch SCTID:91855006 semapv:UnspecifiedMatching MONDO:0010643 acute leukemia skos:exactMatch mesh:C564112 semapv:UnspecifiedMatching MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:exactMatch DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis semapv:UnspecifiedMatching MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:exactMatch OMIM:308990 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis semapv:UnspecifiedMatching MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:exactMatch UMLS:C1839874 semapv:UnspecifiedMatching MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:exactMatch mesh:C545036 semapv:UnspecifiedMatching MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch DOID:1056 oculocerebrorenal syndrome semapv:UnspecifiedMatching MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch NCIT:C84940 Oculocerebrorenal Syndrome semapv:UnspecifiedMatching MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch OMIM:309000 lowe oculocerebrorenal syndrome semapv:UnspecifiedMatching MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:UnspecifiedMatching MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch SCTID:79385002 semapv:UnspecifiedMatching MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch UMLS:C0028860 semapv:UnspecifiedMatching MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch mesh:D009800 semapv:UnspecifiedMatching MONDO:0010646 macular dystrophy, X-linked skos:exactMatch OMIM:309100 macular dystrophy, X-linked semapv:UnspecifiedMatching MONDO:0010646 macular dystrophy, X-linked skos:exactMatch UMLS:C1839842 semapv:UnspecifiedMatching MONDO:0010646 macular dystrophy, X-linked skos:exactMatch mesh:C564110 semapv:UnspecifiedMatching MONDO:0010647 spermatogenic failure, X-linked, 2 skos:exactMatch DOID:0070185 X-linked spermatogenic failure 2 semapv:UnspecifiedMatching MONDO:0010647 spermatogenic failure, X-linked, 2 skos:exactMatch OMIM:309120 spermatogenic failure, x-linked, 2 semapv:UnspecifiedMatching MONDO:0010647 spermatogenic failure, X-linked, 2 skos:exactMatch UMLS:C1839841 semapv:UnspecifiedMatching MONDO:0010648 major affective disorder 2 skos:exactMatch OMIM:309200 major affective disorder 2 semapv:UnspecifiedMatching MONDO:0010648 major affective disorder 2 skos:exactMatch mesh:C564108 semapv:UnspecifiedMatching MONDO:0010649 isolated congenital megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:UnspecifiedMatching MONDO:0010649 isolated congenital megalocornea skos:exactMatch Orphanet:91489 Isolated congenital megalocornea semapv:UnspecifiedMatching MONDO:0010649 isolated congenital megalocornea skos:exactMatch SCTID:734026006 semapv:UnspecifiedMatching MONDO:0010650 Melnick-Needles syndrome skos:exactMatch DOID:0111788 Melnick-Needles syndrome semapv:UnspecifiedMatching MONDO:0010650 Melnick-Needles syndrome skos:exactMatch OMIM:309350 melnick-needles syndrome semapv:UnspecifiedMatching MONDO:0010650 Melnick-Needles syndrome skos:exactMatch Orphanet:2484 Melnick-Needles syndrome semapv:UnspecifiedMatching MONDO:0010650 Melnick-Needles syndrome skos:exactMatch SCTID:13449007 semapv:UnspecifiedMatching MONDO:0010650 Melnick-Needles syndrome skos:exactMatch UMLS:C0025237 semapv:UnspecifiedMatching MONDO:0010651 Menkes disease skos:exactMatch DOID:1838 Menkes disease semapv:UnspecifiedMatching MONDO:0010651 Menkes disease skos:exactMatch NCIT:C75486 Menkes Disease semapv:UnspecifiedMatching MONDO:0010651 Menkes disease skos:exactMatch OMIM:309400 menkes disease semapv:UnspecifiedMatching MONDO:0010651 Menkes disease skos:exactMatch Orphanet:565 Menkes disease semapv:UnspecifiedMatching MONDO:0010651 Menkes disease skos:exactMatch SCTID:59178007 semapv:UnspecifiedMatching MONDO:0010651 Menkes disease skos:exactMatch UMLS:C0022716 semapv:UnspecifiedMatching MONDO:0010651 Menkes disease skos:exactMatch mesh:D007706 semapv:UnspecifiedMatching MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:exactMatch OMIM:309480 mental retardation and psoriasis semapv:UnspecifiedMatching MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:exactMatch Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome semapv:UnspecifiedMatching MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:exactMatch SCTID:719810000 semapv:UnspecifiedMatching MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:exactMatch mesh:C536978 semapv:UnspecifiedMatching MONDO:0010653 Renpenning syndrome skos:exactMatch DOID:0060179 Renpenning syndrome semapv:UnspecifiedMatching MONDO:0010653 Renpenning syndrome skos:exactMatch NCIT:C165533 Renpenning Syndrome semapv:UnspecifiedMatching MONDO:0010653 Renpenning syndrome skos:exactMatch OMIM:309500 renpenning syndrome 1 semapv:UnspecifiedMatching MONDO:0010653 Renpenning syndrome skos:exactMatch Orphanet:3242 Renpenning syndrome semapv:UnspecifiedMatching MONDO:0010653 Renpenning syndrome skos:exactMatch SCTID:699669001 semapv:UnspecifiedMatching MONDO:0010653 Renpenning syndrome skos:exactMatch UMLS:C0796135 semapv:UnspecifiedMatching MONDO:0010653 Renpenning syndrome skos:exactMatch mesh:C537761 semapv:UnspecifiedMatching MONDO:0010654 Partington syndrome skos:exactMatch DOID:14744 Partington syndrome semapv:UnspecifiedMatching MONDO:0010654 Partington syndrome skos:exactMatch OMIM:309510 partington syndrome semapv:UnspecifiedMatching MONDO:0010654 Partington syndrome skos:exactMatch Orphanet:94083 Partington syndrome semapv:UnspecifiedMatching MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:exactMatch DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type semapv:UnspecifiedMatching MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:exactMatch OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns iia semapv:UnspecifiedMatching MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:exactMatch Orphanet:776 Lujan-Fryns syndrome semapv:UnspecifiedMatching MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:exactMatch SCTID:422437002 semapv:UnspecifiedMatching MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:exactMatch mesh:C537724 semapv:UnspecifiedMatching MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch DOID:0112038 non-syndromic X-linked intellectual disability 1 semapv:UnspecifiedMatching MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch NCIT:C133729 Mental Retardation, X-linked 1 semapv:UnspecifiedMatching MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch OMIM:309530 intellectual developmental disorder, X-linked 1 semapv:UnspecifiedMatching MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch mesh:C564489 semapv:UnspecifiedMatching MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch mesh:C567906 semapv:UnspecifiedMatching MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type semapv:UnspecifiedMatching MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch OMIM:309541 methylmalonic aciduria and homocystinuria, cblx iia semapv:UnspecifiedMatching MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX semapv:UnspecifiedMatching MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch UMLS:C0796208 semapv:UnspecifiedMatching MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch mesh:C563136 semapv:UnspecifiedMatching MONDO:0010658 syndromic X-linked intellectual disability 12 skos:exactMatch DOID:0060804 syndromic X-linked intellectual disability 12 semapv:UnspecifiedMatching MONDO:0010658 syndromic X-linked intellectual disability 12 skos:exactMatch OMIM:309545 intellectual developmental disorder, x-linked, syndromic 12 semapv:UnspecifiedMatching MONDO:0010658 syndromic X-linked intellectual disability 12 skos:exactMatch Orphanet:85290 X-linked intellectual disability, Wilson type semapv:UnspecifiedMatching MONDO:0010658 syndromic X-linked intellectual disability 12 skos:exactMatch SCTID:719009006 semapv:UnspecifiedMatching MONDO:0010658 syndromic X-linked intellectual disability 12 skos:exactMatch UMLS:C1839792 semapv:UnspecifiedMatching MONDO:0010658 syndromic X-linked intellectual disability 12 skos:exactMatch mesh:C564106 semapv:UnspecifiedMatching MONDO:0010659 FRAXE intellectual disability skos:exactMatch DOID:0080984 X-linked intellectual developmental disorder 109 semapv:UnspecifiedMatching MONDO:0010659 FRAXE intellectual disability skos:exactMatch OMIM:309548 intellectual developmental disorder, X-linked 109 semapv:UnspecifiedMatching MONDO:0010659 FRAXE intellectual disability skos:exactMatch Orphanet:100973 FRAXE intellectual disability semapv:UnspecifiedMatching MONDO:0010659 FRAXE intellectual disability skos:exactMatch SCTID:716709002 semapv:UnspecifiedMatching MONDO:0010659 FRAXE intellectual disability skos:exactMatch UMLS:C0751157 semapv:UnspecifiedMatching MONDO:0010660 intellectual disability, X-linked 9 skos:exactMatch DOID:0112034 non-syndromic X-linked intellectual disability 9 semapv:UnspecifiedMatching MONDO:0010660 intellectual disability, X-linked 9 skos:exactMatch OMIM:309549 intellectual developmental disorder, X-linked 9 semapv:UnspecifiedMatching MONDO:0010660 intellectual disability, X-linked 9 skos:exactMatch UMLS:C0796215 semapv:UnspecifiedMatching MONDO:0010660 intellectual disability, X-linked 9 skos:exactMatch mesh:C563137 semapv:UnspecifiedMatching MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:exactMatch DOID:0081123 X-linked mental retardation Gustavson type semapv:UnspecifiedMatching MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:exactMatch OMIM:309555 mental retardation with optic atrophy, deafness, and seizures semapv:UnspecifiedMatching MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:exactMatch Orphanet:3078 Severe X-linked intellectual disability, Gustavson type semapv:UnspecifiedMatching MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:exactMatch SCTID:722213009 semapv:UnspecifiedMatching MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:exactMatch UMLS:C0795965 semapv:UnspecifiedMatching MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:exactMatch mesh:C536759 semapv:UnspecifiedMatching MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:exactMatch OMIM:309560 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis semapv:UnspecifiedMatching MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:exactMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:UnspecifiedMatching MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:exactMatch UMLS:C2745996 semapv:UnspecifiedMatching MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:exactMatch mesh:C537058 semapv:UnspecifiedMatching MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:exactMatch DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 semapv:UnspecifiedMatching MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:exactMatch OMIM:309580 intellectual disability-hypotonic facies syndrome, x-linked, 1 semapv:UnspecifiedMatching MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:exactMatch SCTID:717763008 semapv:UnspecifiedMatching MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:exactMatch SCTID:719212004 semapv:UnspecifiedMatching MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:exactMatch UMLS:C4759781 semapv:UnspecifiedMatching MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:exactMatch mesh:C537445 semapv:UnspecifiedMatching MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:exactMatch DOID:0060802 syndromic X-linked intellectual disability Snyder type semapv:UnspecifiedMatching MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:exactMatch OMIM:309583 intellectual developmental disorder, x-linked, syndromic, snyder-robinson iia semapv:UnspecifiedMatching MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:exactMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:UnspecifiedMatching MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:exactMatch SCTID:702416008 semapv:UnspecifiedMatching MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:exactMatch UMLS:C0796160 semapv:UnspecifiedMatching MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:exactMatch mesh:C536678 semapv:UnspecifiedMatching MONDO:0010665 Wilson-Turner syndrome skos:exactMatch DOID:0060814 Wilson-Turner syndrome semapv:UnspecifiedMatching MONDO:0010665 Wilson-Turner syndrome skos:exactMatch OMIM:309585 intellectual developmental disorder, x-linked, syndromic, wilson-turner iia semapv:UnspecifiedMatching MONDO:0010665 Wilson-Turner syndrome skos:exactMatch Orphanet:3459 Wilson-Turner syndrome semapv:UnspecifiedMatching MONDO:0010665 Wilson-Turner syndrome skos:exactMatch SCTID:719834005 semapv:UnspecifiedMatching MONDO:0010665 Wilson-Turner syndrome skos:exactMatch mesh:C536708 semapv:UnspecifiedMatching MONDO:0010666 obsolete Miles-Carpenter syndrome skos:exactMatch OMIM:309605 semapv:UnspecifiedMatching MONDO:0010667 Prieto syndrome skos:exactMatch DOID:0060805 Prieto syndrome semapv:UnspecifiedMatching MONDO:0010667 Prieto syndrome skos:exactMatch OMIM:309610 prieto syndrome semapv:UnspecifiedMatching MONDO:0010667 Prieto syndrome skos:exactMatch Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome semapv:UnspecifiedMatching MONDO:0010667 Prieto syndrome skos:exactMatch SCTID:719140001 semapv:UnspecifiedMatching MONDO:0010667 Prieto syndrome skos:exactMatch mesh:C535274 semapv:UnspecifiedMatching MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:exactMatch OMIM:309620 mental retardation, skeletal dysplasia, and abducens palsy semapv:UnspecifiedMatching MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:exactMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:exactMatch SCTID:722478008 semapv:UnspecifiedMatching MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:exactMatch UMLS:C1839729 semapv:UnspecifiedMatching MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:exactMatch mesh:C564101 semapv:UnspecifiedMatching MONDO:0010669 syndactyly type 8 skos:exactMatch DOID:0111813 syndactyly type 8 semapv:UnspecifiedMatching MONDO:0010669 syndactyly type 8 skos:exactMatch OMIM:309630 metacarpal 4-5 fusion semapv:UnspecifiedMatching MONDO:0010669 syndactyly type 8 skos:exactMatch Orphanet:2498 Syndactyly type 8 semapv:UnspecifiedMatching MONDO:0010669 syndactyly type 8 skos:exactMatch SCTID:715442006 semapv:UnspecifiedMatching MONDO:0010669 syndactyly type 8 skos:exactMatch UMLS:C1839728 semapv:UnspecifiedMatching MONDO:0010669 syndactyly type 8 skos:exactMatch mesh:C564100 semapv:UnspecifiedMatching MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome skos:exactMatch OMIM:309640 mental retardation with spastic paraplegia semapv:UnspecifiedMatching MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome skos:exactMatch UMLS:C1839727 semapv:UnspecifiedMatching MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome skos:exactMatch mesh:C564099 semapv:UnspecifiedMatching MONDO:0010671 microphthalmia, syndromic 1 skos:exactMatch DOID:0111799 syndromic microphthalmia 1 semapv:UnspecifiedMatching MONDO:0010671 microphthalmia, syndromic 1 skos:exactMatch OMIM:309800 microphthalmia, syndromic 1 semapv:UnspecifiedMatching MONDO:0010671 microphthalmia, syndromic 1 skos:exactMatch Orphanet:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010671 microphthalmia, syndromic 1 skos:exactMatch SCTID:438504004 semapv:UnspecifiedMatching MONDO:0010671 microphthalmia, syndromic 1 skos:exactMatch SCTID:717222003 semapv:UnspecifiedMatching MONDO:0010671 microphthalmia, syndromic 1 skos:exactMatch mesh:C537464 semapv:UnspecifiedMatching MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111875 MLS syndrome semapv:UnspecifiedMatching MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch OMIMPS:309801 semapv:UnspecifiedMatching MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:UnspecifiedMatching MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch SCTID:721879006 semapv:UnspecifiedMatching MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch mesh:C537466 semapv:UnspecifiedMatching MONDO:0010673 modifier, X-linked, for Neurofunctional defects skos:exactMatch OMIM:309840 modifier, x-linked, for neurofunctional defects semapv:UnspecifiedMatching MONDO:0010673 modifier, X-linked, for Neurofunctional defects skos:exactMatch UMLS:C1839708 semapv:UnspecifiedMatching MONDO:0010673 modifier, X-linked, for Neurofunctional defects skos:exactMatch mesh:C564098 semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch DOID:12799 mucopolysaccharidosis II semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch ICD10CM:E76.1 Mucopolysaccharidosis, type II semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch NCIT:C61260 Hunter Syndrome semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch OMIM:309900 mucopolysaccharidosis, iia 2 semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch Orphanet:79388 Mucopolysaccharidosis with skin involvement semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch SCTID:70737009 semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch UMLS:C0026705 semapv:UnspecifiedMatching MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch mesh:D016532 semapv:UnspecifiedMatching MONDO:0010675 muscular dystrophy, cardiac type skos:exactMatch OMIM:309930 muscular dystrophy, cardiac iia semapv:UnspecifiedMatching MONDO:0010675 muscular dystrophy, cardiac type skos:exactMatch UMLS:C1442927 semapv:UnspecifiedMatching MONDO:0010675 muscular dystrophy, cardiac type skos:exactMatch mesh:C563247 semapv:UnspecifiedMatching MONDO:0010676 muscular dystrophy, Hemizygous lethal type skos:exactMatch OMIM:309950 muscular dystrophy, hemizygous lethal iia semapv:UnspecifiedMatching MONDO:0010676 muscular dystrophy, Hemizygous lethal type skos:exactMatch UMLS:C1839671 semapv:UnspecifiedMatching MONDO:0010676 muscular dystrophy, Hemizygous lethal type skos:exactMatch mesh:C564097 semapv:UnspecifiedMatching MONDO:0010677 muscular dystrophy, Mabry type skos:exactMatch OMIM:310000 muscular dystrophy, mabry iia semapv:UnspecifiedMatching MONDO:0010677 muscular dystrophy, Mabry type skos:exactMatch UMLS:C1839670 semapv:UnspecifiedMatching MONDO:0010677 muscular dystrophy, Mabry type skos:exactMatch mesh:C564096 semapv:UnspecifiedMatching MONDO:0010678 muscular dystrophy, progressive Pectorodorsal skos:exactMatch OMIM:310095 muscular dystrophy, progressive pectorodorsal semapv:UnspecifiedMatching MONDO:0010678 muscular dystrophy, progressive Pectorodorsal skos:exactMatch UMLS:C1839669 semapv:UnspecifiedMatching MONDO:0010678 muscular dystrophy, progressive Pectorodorsal skos:exactMatch mesh:C564095 semapv:UnspecifiedMatching MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch DOID:11723 Duchenne muscular dystrophy semapv:UnspecifiedMatching MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch NCIT:C75482 Duchenne Muscular Dystrophy semapv:UnspecifiedMatching MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch OMIM:310200 muscular dystrophy, duchenne iia semapv:UnspecifiedMatching MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch Orphanet:98896 Duchenne muscular dystrophy semapv:UnspecifiedMatching MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch SCTID:76670001 semapv:UnspecifiedMatching MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch UMLS:C0013264 semapv:UnspecifiedMatching MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch mesh:D020388 semapv:UnspecifiedMatching MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:exactMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:UnspecifiedMatching MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:exactMatch UMLS:C5243475 semapv:UnspecifiedMatching MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:exactMatch mesh:D000083143 semapv:UnspecifiedMatching MONDO:0010681 myelolymphatic insufficiency skos:exactMatch OMIM:310350 myelolymphatic insufficiency semapv:UnspecifiedMatching MONDO:0010681 myelolymphatic insufficiency skos:exactMatch UMLS:C1839650 semapv:UnspecifiedMatching MONDO:0010682 obsolete myoclonic epilepsy, progressive, X-linked skos:exactMatch OMIM:310370 myoclonic epilepsy, progressive semapv:UnspecifiedMatching MONDO:0010683 X-linked myotubular myopathy skos:exactMatch DOID:0111225 centronuclear myopathy X-linked semapv:UnspecifiedMatching MONDO:0010683 X-linked myotubular myopathy skos:exactMatch NCIT:C118781 X-Linked Centronuclear Myopathy semapv:UnspecifiedMatching MONDO:0010683 X-linked myotubular myopathy skos:exactMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:UnspecifiedMatching MONDO:0010683 X-linked myotubular myopathy skos:exactMatch Orphanet:596 X-linked centronuclear myopathy semapv:UnspecifiedMatching MONDO:0010683 X-linked myotubular myopathy skos:exactMatch SCTID:46804001 semapv:UnspecifiedMatching MONDO:0010683 X-linked myotubular myopathy skos:exactMatch UMLS:C0410203 semapv:UnspecifiedMatching MONDO:0010684 X-linked myopathy with excessive autophagy skos:exactMatch DOID:0050760 X-linked myopathy with excessive autophagy semapv:UnspecifiedMatching MONDO:0010684 X-linked myopathy with excessive autophagy skos:exactMatch OMIM:310440 myopathy, x-linked, with excessive autophagy semapv:UnspecifiedMatching MONDO:0010684 X-linked myopathy with excessive autophagy skos:exactMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:UnspecifiedMatching MONDO:0010684 X-linked myopathy with excessive autophagy skos:exactMatch SCTID:719815005 semapv:UnspecifiedMatching MONDO:0010684 X-linked myopathy with excessive autophagy skos:exactMatch UMLS:C1839615 semapv:UnspecifiedMatching MONDO:0010684 X-linked myopathy with excessive autophagy skos:exactMatch mesh:C536522 semapv:UnspecifiedMatching MONDO:0010685 myopia 1, X-linked skos:exactMatch OMIM:310460 myopia 1, X-linked semapv:UnspecifiedMatching MONDO:0010685 myopia 1, X-linked skos:exactMatch UMLS:C1839612 semapv:UnspecifiedMatching MONDO:0010685 myopia 1, X-linked skos:exactMatch mesh:C564091 semapv:UnspecifiedMatching MONDO:0010686 N syndrome skos:exactMatch DOID:0050769 N syndrome semapv:UnspecifiedMatching MONDO:0010686 N syndrome skos:exactMatch OMIM:310465 n syndrome semapv:UnspecifiedMatching MONDO:0010686 N syndrome skos:exactMatch Orphanet:2608 N syndrome semapv:UnspecifiedMatching MONDO:0010686 N syndrome skos:exactMatch SCTID:723410002 semapv:UnspecifiedMatching MONDO:0010686 N syndrome skos:exactMatch UMLS:C2936859 semapv:UnspecifiedMatching MONDO:0010686 N syndrome skos:exactMatch mesh:C536108 semapv:UnspecifiedMatching MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:exactMatch OMIM:310468 nephrolithiasis, X-linked recessive, with renal failure semapv:UnspecifiedMatching MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:exactMatch SCTID:236713006 semapv:UnspecifiedMatching MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:exactMatch mesh:C562901 semapv:UnspecifiedMatching MONDO:0010688 hereditary sensory neuropathy X-linked skos:exactMatch DOID:0070159 hereditary sensory neuropathy X-linked semapv:UnspecifiedMatching MONDO:0010688 hereditary sensory neuropathy X-linked skos:exactMatch OMIM:310470 neuropathy, hereditary sensory, X-linked semapv:UnspecifiedMatching MONDO:0010688 hereditary sensory neuropathy X-linked skos:exactMatch UMLS:C1839602 semapv:UnspecifiedMatching MONDO:0010688 hereditary sensory neuropathy X-linked skos:exactMatch mesh:C564090 semapv:UnspecifiedMatching MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:exactMatch DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 semapv:UnspecifiedMatching MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:exactMatch OMIM:310490 charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia semapv:UnspecifiedMatching MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:exactMatch Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 semapv:UnspecifiedMatching MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:exactMatch SCTID:763400005 semapv:UnspecifiedMatching MONDO:0010690 congenital stationary night blindness 1A skos:exactMatch DOID:0110870 congenital stationary night blindness 1A semapv:UnspecifiedMatching MONDO:0010690 congenital stationary night blindness 1A skos:exactMatch OMIM:310500 night blindness, congenital stationary, iia 1a semapv:UnspecifiedMatching MONDO:0010691 Norrie disease skos:exactMatch DOID:0060844 Norrie disease semapv:UnspecifiedMatching MONDO:0010691 Norrie disease skos:exactMatch NCIT:C118634 Norrie Syndrome semapv:UnspecifiedMatching MONDO:0010691 Norrie disease skos:exactMatch OMIM:310600 norrie disease semapv:UnspecifiedMatching MONDO:0010691 Norrie disease skos:exactMatch Orphanet:649 Norrie disease semapv:UnspecifiedMatching MONDO:0010691 Norrie disease skos:exactMatch SCTID:15228007 semapv:UnspecifiedMatching MONDO:0010691 Norrie disease skos:exactMatch mesh:C537849 semapv:UnspecifiedMatching MONDO:0010692 nuclear ribonucleic acid skos:exactMatch OMIM:310650 nuclear ribonucleic acid semapv:UnspecifiedMatching MONDO:0010693 nystagmus 1, congenital, X-linked skos:exactMatch DOID:0111790 congenital nystagmus 1 semapv:UnspecifiedMatching MONDO:0010693 nystagmus 1, congenital, X-linked skos:exactMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:UnspecifiedMatching MONDO:0010693 nystagmus 1, congenital, X-linked skos:exactMatch UMLS:C1839580 semapv:UnspecifiedMatching MONDO:0010693 nystagmus 1, congenital, X-linked skos:exactMatch mesh:C537853 semapv:UnspecifiedMatching MONDO:0010694 nystagmus, myoclonic skos:exactMatch OMIM:310800 nystagmus, myoclonic semapv:UnspecifiedMatching MONDO:0010694 nystagmus, myoclonic skos:exactMatch UMLS:C1839579 semapv:UnspecifiedMatching MONDO:0010694 nystagmus, myoclonic skos:exactMatch mesh:C564088 semapv:UnspecifiedMatching MONDO:0010695 occipital hair, white lock of skos:exactMatch OMIM:310900 occipital hair, white lock of semapv:UnspecifiedMatching MONDO:0010696 omphalocele, X-linked skos:exactMatch OMIM:310980 omphalocele, X-linked semapv:UnspecifiedMatching MONDO:0010696 omphalocele, X-linked skos:exactMatch UMLS:C3275625 semapv:UnspecifiedMatching MONDO:0010697 ophthalmoplegia, external, and myopia skos:exactMatch OMIM:311000 ophthalmoplegia, external, and myopia semapv:UnspecifiedMatching MONDO:0010697 ophthalmoplegia, external, and myopia skos:exactMatch UMLS:C1839577 semapv:UnspecifiedMatching MONDO:0010697 ophthalmoplegia, external, and myopia skos:exactMatch mesh:C564087 semapv:UnspecifiedMatching MONDO:0010698 optic atrophy 2 skos:exactMatch DOID:0111443 optic atrophy 2 semapv:UnspecifiedMatching MONDO:0010698 optic atrophy 2 skos:exactMatch OMIM:311050 optic atrophy 2 semapv:UnspecifiedMatching MONDO:0010698 optic atrophy 2 skos:exactMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:UnspecifiedMatching MONDO:0010698 optic atrophy 2 skos:exactMatch SCTID:721200000 semapv:UnspecifiedMatching MONDO:0010698 optic atrophy 2 skos:exactMatch UMLS:C1839576 semapv:UnspecifiedMatching MONDO:0010698 optic atrophy 2 skos:exactMatch mesh:C537125 semapv:UnspecifiedMatching MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:exactMatch DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 semapv:UnspecifiedMatching MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:exactMatch OMIM:311070 charcot-marie-tooth disease, X-linked recessive, 5 semapv:UnspecifiedMatching MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:exactMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:UnspecifiedMatching MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:exactMatch SCTID:763460007 semapv:UnspecifiedMatching MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:exactMatch UMLS:C1839566 semapv:UnspecifiedMatching MONDO:0010700 optic atrophy--spastic paraplegia syndrome skos:exactMatch OMIM:311100 optic atrophy--spastic paraplegia syndrome semapv:UnspecifiedMatching MONDO:0010700 optic atrophy--spastic paraplegia syndrome skos:exactMatch UMLS:C1839565 semapv:UnspecifiedMatching MONDO:0010700 optic atrophy--spastic paraplegia syndrome skos:exactMatch mesh:C564084 semapv:UnspecifiedMatching MONDO:0010702 orofaciodigital syndrome I skos:exactMatch DOID:0060316 orofaciodigital syndrome I semapv:UnspecifiedMatching MONDO:0010702 orofaciodigital syndrome I skos:exactMatch NCIT:C75481 Orofaciodigital Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0010702 orofaciodigital syndrome I skos:exactMatch OMIM:311200 orofaciodigital syndrome 1 semapv:UnspecifiedMatching MONDO:0010702 orofaciodigital syndrome I skos:exactMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:UnspecifiedMatching MONDO:0010702 orofaciodigital syndrome I skos:exactMatch SCTID:763833006 semapv:UnspecifiedMatching MONDO:0010702 orofaciodigital syndrome I skos:exactMatch UMLS:C1510460 semapv:UnspecifiedMatching MONDO:0010702 orofaciodigital syndrome I skos:exactMatch mesh:C537134 semapv:UnspecifiedMatching MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch DOID:9271 ornithine carbamoyltransferase deficiency semapv:UnspecifiedMatching MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch NCIT:C84957 Ornithine Carbamoyltransferase Deficiency Disease semapv:UnspecifiedMatching MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to semapv:UnspecifiedMatching MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:UnspecifiedMatching MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch SCTID:80908008 semapv:UnspecifiedMatching MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch UMLS:C0268542 semapv:UnspecifiedMatching MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch mesh:D020163 semapv:UnspecifiedMatching MONDO:0010704 otopalatodigital syndrome type 1 skos:exactMatch DOID:0111783 otopalatodigital syndrome type 1 semapv:UnspecifiedMatching MONDO:0010704 otopalatodigital syndrome type 1 skos:exactMatch NCIT:C118845 Otopalatodigital Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0010704 otopalatodigital syndrome type 1 skos:exactMatch OMIM:311300 otopalatodigital syndrome, iia 1 semapv:UnspecifiedMatching MONDO:0010704 otopalatodigital syndrome type 1 skos:exactMatch Orphanet:90650 Otopalatodigital syndrome type 1 semapv:UnspecifiedMatching MONDO:0010704 otopalatodigital syndrome type 1 skos:exactMatch SCTID:54036001 semapv:UnspecifiedMatching MONDO:0010705 obsolete ouabain resistance skos:exactMatch OMIM:311350 ouabain resistance semapv:UnspecifiedMatching MONDO:0010706 premature ovarian failure 1 skos:exactMatch DOID:0080857 primary ovarian insufficiency 1 semapv:UnspecifiedMatching MONDO:0010706 premature ovarian failure 1 skos:exactMatch OMIM:311360 premature ovarian failure 1 semapv:UnspecifiedMatching MONDO:0010706 premature ovarian failure 1 skos:exactMatch Orphanet:642691 Fragile X-associated primary ovarian insufficiency semapv:UnspecifiedMatching MONDO:0010707 Paine syndrome skos:exactMatch OMIM:311400 paine syndrome semapv:UnspecifiedMatching MONDO:0010707 Paine syndrome skos:exactMatch UMLS:C1412041 semapv:UnspecifiedMatching MONDO:0010707 Paine syndrome skos:exactMatch mesh:C538101 semapv:UnspecifiedMatching MONDO:0010708 Pallister-W syndrome skos:exactMatch OMIM:311450 pallister w syndrome semapv:UnspecifiedMatching MONDO:0010708 Pallister-W syndrome skos:exactMatch Orphanet:2804 W syndrome semapv:UnspecifiedMatching MONDO:0010708 Pallister-W syndrome skos:exactMatch SCTID:719020006 semapv:UnspecifiedMatching MONDO:0010708 Pallister-W syndrome skos:exactMatch UMLS:C0796110 semapv:UnspecifiedMatching MONDO:0010708 Pallister-W syndrome skos:exactMatch mesh:C538106 semapv:UnspecifiedMatching MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch DOID:0111781 Waisman syndrome semapv:UnspecifiedMatching MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch OMIM:311510 waisman syndrome semapv:UnspecifiedMatching MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch SCTID:716107009 semapv:UnspecifiedMatching MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch UMLS:C0796195 semapv:UnspecifiedMatching MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch mesh:C537179 semapv:UnspecifiedMatching MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:exactMatch OMIM:311895 pierre robin sequence with facial and digital anomalies semapv:UnspecifiedMatching MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:exactMatch Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome semapv:UnspecifiedMatching MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:exactMatch SCTID:723461007 semapv:UnspecifiedMatching MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:exactMatch UMLS:C2931064 semapv:UnspecifiedMatching MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:exactMatch mesh:C535926 semapv:UnspecifiedMatching MONDO:0010711 TARP syndrome skos:exactMatch DOID:0111780 TARP syndrome semapv:UnspecifiedMatching MONDO:0010711 TARP syndrome skos:exactMatch OMIM:311900 tarp syndrome semapv:UnspecifiedMatching MONDO:0010711 TARP syndrome skos:exactMatch Orphanet:2886 TARP syndrome semapv:UnspecifiedMatching MONDO:0010711 TARP syndrome skos:exactMatch SCTID:725911008 semapv:UnspecifiedMatching MONDO:0010711 TARP syndrome skos:exactMatch UMLS:C1839463 semapv:UnspecifiedMatching MONDO:0010711 TARP syndrome skos:exactMatch mesh:C536942 semapv:UnspecifiedMatching MONDO:0010712 panhypopituitarism, X-linked skos:exactMatch DOID:0111779 X-linked panhypopituitarism semapv:UnspecifiedMatching MONDO:0010712 panhypopituitarism, X-linked skos:exactMatch OMIM:312000 panhypopituitarism, X-linked semapv:UnspecifiedMatching MONDO:0010712 panhypopituitarism, X-linked skos:exactMatch SCTID:237683004 semapv:UnspecifiedMatching MONDO:0010712 panhypopituitarism, X-linked skos:exactMatch mesh:C538613 semapv:UnspecifiedMatching MONDO:0010713 properdin deficiency, X-linked skos:exactMatch DOID:0111768 X-linked properdin deficiency semapv:UnspecifiedMatching MONDO:0010713 properdin deficiency, X-linked skos:exactMatch OMIM:312060 properdin deficiency, X-linked semapv:UnspecifiedMatching MONDO:0010713 properdin deficiency, X-linked skos:exactMatch Orphanet:2966 Properdin deficiency semapv:UnspecifiedMatching MONDO:0010713 properdin deficiency, X-linked skos:exactMatch SCTID:81166004 semapv:UnspecifiedMatching MONDO:0010713 properdin deficiency, X-linked skos:exactMatch mesh:C537241 semapv:UnspecifiedMatching MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder skos:exactMatch DOID:3210 Pelizaeus-Merzbacher disease semapv:UnspecifiedMatching MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder skos:exactMatch NCIT:C75487 Pelizaeus-Merzbacher Disease semapv:UnspecifiedMatching MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder skos:exactMatch OMIM:312080 pelizaeus-merzbacher disease semapv:UnspecifiedMatching MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder skos:exactMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:UnspecifiedMatching MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder skos:exactMatch SCTID:64855000 semapv:UnspecifiedMatching MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder skos:exactMatch UMLS:C0205711 semapv:UnspecifiedMatching MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder skos:exactMatch mesh:D020371 semapv:UnspecifiedMatching MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:exactMatch OMIM:312150 multiple pterygium syndrome, X-linked semapv:UnspecifiedMatching MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:exactMatch Orphanet:79447 X-linked lethal multiple pterygium syndrome semapv:UnspecifiedMatching MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:exactMatch SCTID:763462004 semapv:UnspecifiedMatching MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:exactMatch UMLS:C1839440 semapv:UnspecifiedMatching MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:exactMatch mesh:C564072 semapv:UnspecifiedMatching MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:exactMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:UnspecifiedMatching MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:exactMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:UnspecifiedMatching MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:exactMatch SCTID:124593001 semapv:UnspecifiedMatching MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:exactMatch mesh:C564071 semapv:UnspecifiedMatching MONDO:0010718 absent radius-anogenital anomalies syndrome skos:exactMatch OMIM:312190 radial aplasia, X-linked semapv:UnspecifiedMatching MONDO:0010718 absent radius-anogenital anomalies syndrome skos:exactMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:UnspecifiedMatching MONDO:0010718 absent radius-anogenital anomalies syndrome skos:exactMatch UMLS:C1839410 semapv:UnspecifiedMatching MONDO:0010718 absent radius-anogenital anomalies syndrome skos:exactMatch mesh:C535281 semapv:UnspecifiedMatching MONDO:0010719 radiation sensitivity of natural killer activity skos:exactMatch OMIM:312210 radiation sensitivity of natural killer activity semapv:UnspecifiedMatching MONDO:0010719 radiation sensitivity of natural killer activity skos:exactMatch UMLS:C1839408 semapv:UnspecifiedMatching MONDO:0010719 radiation sensitivity of natural killer activity skos:exactMatch mesh:C564066 semapv:UnspecifiedMatching MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch DOID:0080776 partial androgen insensitivity syndrome semapv:UnspecifiedMatching MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch ICD10CM:E34.52 Partial androgen insensitivity syndrome semapv:UnspecifiedMatching MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch NCIT:C120192 Partial Androgen Insensitivity Syndrome semapv:UnspecifiedMatching MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch OMIM:312300 androgen insensitivity, partial semapv:UnspecifiedMatching MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch Orphanet:90797 Partial androgen insensitivity syndrome semapv:UnspecifiedMatching MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch SCTID:122811000119101 semapv:UnspecifiedMatching MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch UMLS:C0268301 semapv:UnspecifiedMatching MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch mesh:C538435 semapv:UnspecifiedMatching MONDO:0010721 reticuloendotheliosis, X-linked skos:exactMatch OMIM:312500 reticuloendotheliosis, X-linked semapv:UnspecifiedMatching MONDO:0010721 reticuloendotheliosis, X-linked skos:exactMatch UMLS:C0035288 semapv:UnspecifiedMatching MONDO:0010721 reticuloendotheliosis, X-linked skos:exactMatch mesh:C538362 semapv:UnspecifiedMatching MONDO:0010722 X-linked retinal dysplasia skos:exactMatch OMIM:312550 retinal dysplasia, primary semapv:UnspecifiedMatching MONDO:0010722 X-linked retinal dysplasia skos:exactMatch Orphanet:1852 X-linked retinal dysplasia semapv:UnspecifiedMatching MONDO:0010722 X-linked retinal dysplasia skos:exactMatch SCTID:715240000 semapv:UnspecifiedMatching MONDO:0010722 X-linked retinal dysplasia skos:exactMatch UMLS:C4275241 semapv:UnspecifiedMatching MONDO:0010723 retinitis pigmentosa 2 skos:exactMatch DOID:0110415 retinitis pigmentosa 2 semapv:UnspecifiedMatching MONDO:0010723 retinitis pigmentosa 2 skos:exactMatch OMIM:312600 retinitis pigmentosa 2 semapv:UnspecifiedMatching MONDO:0010723 retinitis pigmentosa 2 skos:exactMatch UMLS:C2681923 semapv:UnspecifiedMatching MONDO:0010723 retinitis pigmentosa 2 skos:exactMatch mesh:C567523 semapv:UnspecifiedMatching MONDO:0010725 X-linked retinoschisis skos:exactMatch DOID:0060763 X-linked juvenile retinoschisis 1 semapv:UnspecifiedMatching MONDO:0010725 X-linked retinoschisis skos:exactMatch NCIT:C75483 Juvenile X-Linked Retinoschisis semapv:UnspecifiedMatching MONDO:0010725 X-linked retinoschisis skos:exactMatch OMIM:312700 retinoschisis 1, x-linked, juvenile semapv:UnspecifiedMatching MONDO:0010725 X-linked retinoschisis skos:exactMatch Orphanet:792 X-linked retinoschisis semapv:UnspecifiedMatching MONDO:0010725 X-linked retinoschisis skos:exactMatch SCTID:86923008 semapv:UnspecifiedMatching MONDO:0010726 Rett syndrome skos:exactMatch DOID:1206 Rett syndrome semapv:UnspecifiedMatching MONDO:0010726 Rett syndrome skos:exactMatch NCIT:C75488 Rett Syndrome semapv:UnspecifiedMatching MONDO:0010726 Rett syndrome skos:exactMatch OMIM:312750 rett syndrome semapv:UnspecifiedMatching MONDO:0010726 Rett syndrome skos:exactMatch Orphanet:778 Rett syndrome semapv:UnspecifiedMatching MONDO:0010726 Rett syndrome skos:exactMatch SCTID:68618008 semapv:UnspecifiedMatching MONDO:0010726 Rett syndrome skos:exactMatch UMLS:C0035372 semapv:UnspecifiedMatching MONDO:0010726 Rett syndrome skos:exactMatch mesh:D015518 semapv:UnspecifiedMatching MONDO:0010727 Russell-silver syndrome, X-linked skos:exactMatch OMIM:312780 russell-silver syndrome, X-linked semapv:UnspecifiedMatching MONDO:0010727 Russell-silver syndrome, X-linked skos:exactMatch SCTID:702412005 semapv:UnspecifiedMatching MONDO:0010728 SCARF syndrome skos:exactMatch OMIM:312830 scarf syndrome semapv:UnspecifiedMatching MONDO:0010728 SCARF syndrome skos:exactMatch Orphanet:3134 SCARF syndrome semapv:UnspecifiedMatching MONDO:0010728 SCARF syndrome skos:exactMatch SCTID:734173003 semapv:UnspecifiedMatching MONDO:0010728 SCARF syndrome skos:exactMatch UMLS:C1839321 semapv:UnspecifiedMatching MONDO:0010728 SCARF syndrome skos:exactMatch mesh:C536625 semapv:UnspecifiedMatching MONDO:0010729 X-linked intellectual disability, Schimke type skos:exactMatch OMIM:312840 schimke X-linked mental retardation syndrome semapv:UnspecifiedMatching MONDO:0010729 X-linked intellectual disability, Schimke type skos:exactMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:UnspecifiedMatching MONDO:0010729 X-linked intellectual disability, Schimke type skos:exactMatch SCTID:719010001 semapv:UnspecifiedMatching MONDO:0010729 X-linked intellectual disability, Schimke type skos:exactMatch UMLS:C1839320 semapv:UnspecifiedMatching MONDO:0010729 X-linked intellectual disability, Schimke type skos:exactMatch mesh:C536630 semapv:UnspecifiedMatching MONDO:0010730 combined immunodeficiency, X-linked skos:exactMatch OMIM:312863 combined immunodeficiency, X-linked semapv:UnspecifiedMatching MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch NCIT:C131002 Simpson-Golabi-Behmel Syndrome semapv:UnspecifiedMatching MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:UnspecifiedMatching MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch SCTID:439143004 semapv:UnspecifiedMatching MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch mesh:C537340 semapv:UnspecifiedMatching MONDO:0010732 spastic paraparesis-deafness syndrome skos:exactMatch DOID:0081100 spastic paraplegia with deafness semapv:UnspecifiedMatching MONDO:0010732 spastic paraparesis-deafness syndrome skos:exactMatch OMIM:312910 spastic paraparesis and deafness semapv:UnspecifiedMatching MONDO:0010732 spastic paraparesis-deafness syndrome skos:exactMatch Orphanet:2815 Spastic paraparesis-deafness syndrome semapv:UnspecifiedMatching MONDO:0010732 spastic paraparesis-deafness syndrome skos:exactMatch SCTID:715504003 semapv:UnspecifiedMatching MONDO:0010732 spastic paraparesis-deafness syndrome skos:exactMatch UMLS:C2931291 semapv:UnspecifiedMatching MONDO:0010732 spastic paraparesis-deafness syndrome skos:exactMatch mesh:C536692 semapv:UnspecifiedMatching MONDO:0010733 hereditary spastic paraplegia 2 skos:exactMatch DOID:0110773 hereditary spastic paraplegia 2 semapv:UnspecifiedMatching MONDO:0010733 hereditary spastic paraplegia 2 skos:exactMatch OMIM:312920 spastic paraplegia 2, X-linked semapv:UnspecifiedMatching MONDO:0010733 hereditary spastic paraplegia 2 skos:exactMatch Orphanet:99015 Spastic paraplegia type 2 semapv:UnspecifiedMatching MONDO:0010733 hereditary spastic paraplegia 2 skos:exactMatch SCTID:723622007 semapv:UnspecifiedMatching MONDO:0010733 hereditary spastic paraplegia 2 skos:exactMatch UMLS:C1839264 semapv:UnspecifiedMatching MONDO:0010734 spatial visualization, aptitude for skos:exactMatch OMIM:313000 spatial visualization, aptitude for semapv:UnspecifiedMatching MONDO:0010734 spatial visualization, aptitude for skos:exactMatch UMLS:C1839262 semapv:UnspecifiedMatching MONDO:0010734 spatial visualization, aptitude for skos:exactMatch mesh:C564058 semapv:UnspecifiedMatching MONDO:0010735 Kennedy disease skos:exactMatch DOID:0060161 Kennedy's disease semapv:UnspecifiedMatching MONDO:0010735 Kennedy disease skos:exactMatch NCIT:C85233 Spinal and Bulbar Muscular Atrophy, X-linked 1 semapv:UnspecifiedMatching MONDO:0010735 Kennedy disease skos:exactMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:UnspecifiedMatching MONDO:0010735 Kennedy disease skos:exactMatch Orphanet:481 Kennedy disease semapv:UnspecifiedMatching MONDO:0010735 Kennedy disease skos:exactMatch UMLS:C1839259 semapv:UnspecifiedMatching MONDO:0010735 Kennedy disease skos:exactMatch mesh:D055534 semapv:UnspecifiedMatching MONDO:0010736 split hand-foot malformation 2 skos:exactMatch DOID:0090027 split hand-foot malformation 2 semapv:UnspecifiedMatching MONDO:0010736 split hand-foot malformation 2 skos:exactMatch OMIM:313350 split-hand/foot malformation 2 semapv:UnspecifiedMatching MONDO:0010736 split hand-foot malformation 2 skos:exactMatch mesh:C564056 semapv:UnspecifiedMatching MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:exactMatch DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda semapv:UnspecifiedMatching MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:exactMatch OMIM:313400 spondyloepiphyseal dysplasia tarda, X-linked semapv:UnspecifiedMatching MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:exactMatch OMIM:313420 spondylometaphyseal dysplasia, X-linked semapv:UnspecifiedMatching MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:exactMatch Orphanet:168544 Spondylometaphyseal dysplasia, Golden type semapv:UnspecifiedMatching MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:exactMatch UMLS:C0796172 semapv:UnspecifiedMatching MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:exactMatch mesh:C563124 semapv:UnspecifiedMatching MONDO:0010739 Taqi polymorphism skos:exactMatch OMIM:313480 taqi polymorphism semapv:UnspecifiedMatching MONDO:0010740 taurodontism, microdontia, and dens invaginatus skos:exactMatch OMIM:313490 taurodontism, microdontia, and dens invaginatus semapv:UnspecifiedMatching MONDO:0010740 taurodontism, microdontia, and dens invaginatus skos:exactMatch UMLS:C1839235 semapv:UnspecifiedMatching MONDO:0010740 taurodontism, microdontia, and dens invaginatus skos:exactMatch mesh:C536947 semapv:UnspecifiedMatching MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:exactMatch OMIM:313500 tooth agenesis, selective, x-linked, 1 semapv:UnspecifiedMatching MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:exactMatch UMLS:C1970757 semapv:UnspecifiedMatching MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:exactMatch mesh:C567060 semapv:UnspecifiedMatching MONDO:0010742 pentalogy of Cantrell skos:exactMatch NCIT:C99011 Pentalogy of Cantrell semapv:UnspecifiedMatching MONDO:0010742 pentalogy of Cantrell skos:exactMatch OMIM:313850 thoracoabdominal syndrome semapv:UnspecifiedMatching MONDO:0010742 pentalogy of Cantrell skos:exactMatch Orphanet:1335 Pentalogy of Cantrell semapv:UnspecifiedMatching MONDO:0010742 pentalogy of Cantrell skos:exactMatch SCTID:281587000 semapv:UnspecifiedMatching MONDO:0010742 pentalogy of Cantrell skos:exactMatch UMLS:C0559483 semapv:UnspecifiedMatching MONDO:0010742 pentalogy of Cantrell skos:exactMatch mesh:D058502 semapv:UnspecifiedMatching MONDO:0010743 thrombocytopenia 1 skos:exactMatch NCIT:C176617 Thrombocytopenia 1 semapv:UnspecifiedMatching MONDO:0010743 thrombocytopenia 1 skos:exactMatch OMIM:313900 thrombocytopenia 1 semapv:UnspecifiedMatching MONDO:0010743 thrombocytopenia 1 skos:exactMatch Orphanet:852 X-linked thrombocytopenia with normal platelets semapv:UnspecifiedMatching MONDO:0010743 thrombocytopenia 1 skos:exactMatch UMLS:C1839163 semapv:UnspecifiedMatching MONDO:0010743 thrombocytopenia 1 skos:exactMatch mesh:C564052 semapv:UnspecifiedMatching MONDO:0010744 thrombocytopenia with elevated serum IgA and renal disease skos:exactMatch OMIM:314000 thrombocytopenia with elevated serum iga and renal disease semapv:UnspecifiedMatching MONDO:0010744 thrombocytopenia with elevated serum IgA and renal disease skos:exactMatch UMLS:C1839162 semapv:UnspecifiedMatching MONDO:0010744 thrombocytopenia with elevated serum IgA and renal disease skos:exactMatch mesh:C564051 semapv:UnspecifiedMatching MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch DOID:0111767 X-linked thrombocytopenia with beta-thalassemia semapv:UnspecifiedMatching MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch NCIT:C134941 X-Linked Thrombocytopenia with Beta-Thalassemia semapv:UnspecifiedMatching MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked semapv:UnspecifiedMatching MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome semapv:UnspecifiedMatching MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch SCTID:718196002 semapv:UnspecifiedMatching MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch UMLS:C1839161 semapv:UnspecifiedMatching MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch mesh:C564050 semapv:UnspecifiedMatching MONDO:0010746 thumbs, congenital Clasped skos:exactMatch OMIM:314100 adducted thumbs, congenital semapv:UnspecifiedMatching MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch DOID:0090057 X-linked dystonia-parkinsonism semapv:UnspecifiedMatching MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch NCIT:C126330 X-Linked Dystonia Parkinsonism semapv:UnspecifiedMatching MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch OMIM:314250 dystonia 3, torsion, X-linked semapv:UnspecifiedMatching MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:UnspecifiedMatching MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch SCTID:698279003 semapv:UnspecifiedMatching MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch UMLS:C1839130 semapv:UnspecifiedMatching MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch mesh:C564048 semapv:UnspecifiedMatching MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:exactMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:UnspecifiedMatching MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:exactMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:exactMatch UMLS:C1839129 semapv:UnspecifiedMatching MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:exactMatch mesh:C536970 semapv:UnspecifiedMatching MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:exactMatch OMIM:314320 trigonocephaly with short stature and developmental delay semapv:UnspecifiedMatching MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:exactMatch Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:exactMatch SCTID:733066002 semapv:UnspecifiedMatching MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:exactMatch mesh:C536620 semapv:UnspecifiedMatching MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:exactMatch OMIM:314360 ulnar hypoplasia with lobster-claw deformity of feet semapv:UnspecifiedMatching MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:exactMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:UnspecifiedMatching MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:exactMatch UMLS:C1839123 semapv:UnspecifiedMatching MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:exactMatch mesh:C536936 semapv:UnspecifiedMatching MONDO:0010751 unique green phenomenon skos:exactMatch OMIM:314380 unique green phenomenon semapv:UnspecifiedMatching MONDO:0010751 unique green phenomenon skos:exactMatch UMLS:C1839116 semapv:UnspecifiedMatching MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:exactMatch DOID:0111766 X-linked VACTERL association semapv:UnspecifiedMatching MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:exactMatch OMIM:314390 vacterl association, x-linked, with or without hydrocephalus semapv:UnspecifiedMatching MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:exactMatch UMLS:C2931228 semapv:UnspecifiedMatching MONDO:0010753 cardiac valvular dysplasia, X-linked skos:exactMatch DOID:0111765 X-linked cardiac valvular dysplasia semapv:UnspecifiedMatching MONDO:0010753 cardiac valvular dysplasia, X-linked skos:exactMatch OMIM:314400 cardiac valvular dysplasia, X-linked semapv:UnspecifiedMatching MONDO:0010753 cardiac valvular dysplasia, X-linked skos:exactMatch Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia semapv:UnspecifiedMatching MONDO:0010753 cardiac valvular dysplasia, X-linked skos:exactMatch SCTID:718128009 semapv:UnspecifiedMatching MONDO:0010753 cardiac valvular dysplasia, X-linked skos:exactMatch mesh:C535576 semapv:UnspecifiedMatching MONDO:0010754 van den Bosch syndrome skos:exactMatch OMIM:314500 van den bosch syndrome semapv:UnspecifiedMatching MONDO:0010754 van den Bosch syndrome skos:exactMatch Orphanet:3417 Van den Bosch syndrome semapv:UnspecifiedMatching MONDO:0010754 van den Bosch syndrome skos:exactMatch SCTID:733110004 semapv:UnspecifiedMatching MONDO:0010754 van den Bosch syndrome skos:exactMatch UMLS:C0796192 semapv:UnspecifiedMatching MONDO:0010754 van den Bosch syndrome skos:exactMatch mesh:C563129 semapv:UnspecifiedMatching MONDO:0010755 vesicoureteral reflux, X-linked skos:exactMatch OMIM:314550 vesicoureteral reflux, X-linked semapv:UnspecifiedMatching MONDO:0010755 vesicoureteral reflux, X-linked skos:exactMatch UMLS:C1839114 semapv:UnspecifiedMatching MONDO:0010755 vesicoureteral reflux, X-linked skos:exactMatch mesh:C564042 semapv:UnspecifiedMatching MONDO:0010756 Von Willebrand disease, X-linked form skos:exactMatch OMIM:314560 von willebrand disease, X-linked form semapv:UnspecifiedMatching MONDO:0010756 Von Willebrand disease, X-linked form skos:exactMatch UMLS:C1839113 semapv:UnspecifiedMatching MONDO:0010756 Von Willebrand disease, X-linked form skos:exactMatch mesh:C564041 semapv:UnspecifiedMatching MONDO:0010757 widow's peak syndrome skos:exactMatch OMIM:314570 widow's peak syndrome semapv:UnspecifiedMatching MONDO:0010757 widow's peak syndrome skos:exactMatch UMLS:C1839112 semapv:UnspecifiedMatching MONDO:0010757 widow's peak syndrome skos:exactMatch mesh:C564040 semapv:UnspecifiedMatching MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch DOID:0060815 Miles-Carpenter syndrome semapv:UnspecifiedMatching MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch OMIM:314580 wieacker-wolff syndrome semapv:UnspecifiedMatching MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:UnspecifiedMatching MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:UnspecifiedMatching MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch SCTID:719012009 semapv:UnspecifiedMatching MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch SCTID:722456001 semapv:UnspecifiedMatching MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch mesh:C536703 semapv:UnspecifiedMatching MONDO:0010759 Wildervanck syndrome skos:exactMatch OMIM:314600 wildervanck syndrome semapv:UnspecifiedMatching MONDO:0010759 Wildervanck syndrome skos:exactMatch Orphanet:3456 Wildervanck syndrome semapv:UnspecifiedMatching MONDO:0010759 Wildervanck syndrome skos:exactMatch SCTID:79665007 semapv:UnspecifiedMatching MONDO:0010759 Wildervanck syndrome skos:exactMatch UMLS:C0265239 semapv:UnspecifiedMatching MONDO:0010760 XH antigen skos:exactMatch OMIM:314800 xh antigen semapv:UnspecifiedMatching MONDO:0010760 XH antigen skos:exactMatch mesh:C009691 semapv:UnspecifiedMatching MONDO:0010761 retinitis pigmentosa Y-linked skos:exactMatch DOID:0110418 retinitis pigmentosa Y-linked semapv:UnspecifiedMatching MONDO:0010761 retinitis pigmentosa Y-linked skos:exactMatch OMIM:400004 retinitis pigmentosa, Y-linked semapv:UnspecifiedMatching MONDO:0010761 retinitis pigmentosa Y-linked skos:exactMatch UMLS:C1839079 semapv:UnspecifiedMatching MONDO:0010761 retinitis pigmentosa Y-linked skos:exactMatch mesh:C564035 semapv:UnspecifiedMatching MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal skos:exactMatch OMIM:400021 lymphoma, hodgkin, Y-linked pseudoautosomal semapv:UnspecifiedMatching MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal skos:exactMatch UMLS:C1839076 semapv:UnspecifiedMatching MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal skos:exactMatch mesh:C564034 semapv:UnspecifiedMatching MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:exactMatch DOID:0070186 Y-linked spermatogenic failure 1 semapv:UnspecifiedMatching MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:exactMatch OMIM:400042 spermatogenic failure, y-linked, 1 semapv:UnspecifiedMatching MONDO:0010764 hearing loss, Y-linked 1 skos:exactMatch DOID:0111759 Y-linked deafness 1 semapv:UnspecifiedMatching MONDO:0010764 hearing loss, Y-linked 1 skos:exactMatch OMIM:400043 deafness, Y-linked 1 semapv:UnspecifiedMatching MONDO:0010764 hearing loss, Y-linked 1 skos:exactMatch UMLS:C3888076 semapv:UnspecifiedMatching MONDO:0010765 46,XY complete gonadal dysgenesis skos:exactMatch DOID:14448 46,XY sex reversal semapv:UnspecifiedMatching MONDO:0010765 46,XY complete gonadal dysgenesis skos:exactMatch NCIT:C120198 46,XY Gonadal Dysgenesis semapv:UnspecifiedMatching MONDO:0010765 46,XY complete gonadal dysgenesis skos:exactMatch OMIMPS:400044 semapv:UnspecifiedMatching MONDO:0010765 46,XY complete gonadal dysgenesis skos:exactMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:UnspecifiedMatching MONDO:0010765 46,XY complete gonadal dysgenesis skos:exactMatch SCTID:95218005 semapv:UnspecifiedMatching MONDO:0010765 46,XY complete gonadal dysgenesis skos:exactMatch UMLS:C2936694 semapv:UnspecifiedMatching MONDO:0010765 46,XY complete gonadal dysgenesis skos:exactMatch mesh:D006061 semapv:UnspecifiedMatching MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:exactMatch DOID:0070187 Y-linked spermatogenic failure 2 semapv:UnspecifiedMatching MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:exactMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:UnspecifiedMatching MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:exactMatch mesh:C564030 semapv:UnspecifiedMatching MONDO:0010768 gonadoblastoma skos:exactMatch DOID:3301 gonadoblastoma semapv:UnspecifiedMatching MONDO:0010768 gonadoblastoma skos:exactMatch NCIT:C3754 Gonadoblastoma semapv:UnspecifiedMatching MONDO:0010768 gonadoblastoma skos:exactMatch UMLS:C0206661 semapv:UnspecifiedMatching MONDO:0010768 gonadoblastoma skos:exactMatch mesh:D018238 semapv:UnspecifiedMatching MONDO:0010769 hairy ears, Y-linked skos:exactMatch OMIM:425500 hairy ears, Y-linked semapv:UnspecifiedMatching MONDO:0010769 hairy ears, Y-linked skos:exactMatch UMLS:C1839070 semapv:UnspecifiedMatching MONDO:0010769 hairy ears, Y-linked skos:exactMatch mesh:C564029 semapv:UnspecifiedMatching MONDO:0010770 ubiquitin-activating enzyme, Y-linked skos:exactMatch OMIM:489000 ubiquitin-activating enzyme, Y-linked semapv:UnspecifiedMatching MONDO:0010771 histiocytoid cardiomyopathy skos:exactMatch DOID:0080198 infantile histiocytoid cardiomyopathy semapv:UnspecifiedMatching MONDO:0010771 histiocytoid cardiomyopathy skos:exactMatch NCIT:C45745 Conduction System Hamartoma semapv:UnspecifiedMatching MONDO:0010771 histiocytoid cardiomyopathy skos:exactMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:UnspecifiedMatching MONDO:0010771 histiocytoid cardiomyopathy skos:exactMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:UnspecifiedMatching MONDO:0010771 histiocytoid cardiomyopathy skos:exactMatch UMLS:C1708371 semapv:UnspecifiedMatching MONDO:0010771 histiocytoid cardiomyopathy skos:exactMatch mesh:C535584 semapv:UnspecifiedMatching MONDO:0010772 Leber optic atrophy and dystonia skos:exactMatch DOID:0111755 Leber hereditary optic neuropathy and dystonia semapv:UnspecifiedMatching MONDO:0010772 Leber optic atrophy and dystonia skos:exactMatch OMIM:500001 leber optic atrophy and dystonia semapv:UnspecifiedMatching MONDO:0010772 Leber optic atrophy and dystonia skos:exactMatch UMLS:C1839040 semapv:UnspecifiedMatching MONDO:0010772 Leber optic atrophy and dystonia skos:exactMatch mesh:C536024 semapv:UnspecifiedMatching MONDO:0010773 mitochondrial myopathy with diabetes skos:exactMatch OMIM:500002 mitochondrial myopathy with diabetes semapv:UnspecifiedMatching MONDO:0010773 mitochondrial myopathy with diabetes skos:exactMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:UnspecifiedMatching MONDO:0010773 mitochondrial myopathy with diabetes skos:exactMatch UMLS:C1839028 semapv:UnspecifiedMatching MONDO:0010773 mitochondrial myopathy with diabetes skos:exactMatch mesh:C564026 semapv:UnspecifiedMatching MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:exactMatch OMIM:500003 striatonigral degeneration, infantile, mitochondrial semapv:UnspecifiedMatching MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:exactMatch UMLS:C1839022 semapv:UnspecifiedMatching MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:exactMatch mesh:C564025 semapv:UnspecifiedMatching MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch DOID:0110829 retinitis pigmentosa-deafness syndrome semapv:UnspecifiedMatching MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:UnspecifiedMatching MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch SCTID:57838006 semapv:UnspecifiedMatching MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch UMLS:CN033130 semapv:UnspecifiedMatching MONDO:0010776 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial skos:exactMatch OMIM:500005 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial semapv:UnspecifiedMatching MONDO:0010776 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial skos:exactMatch UMLS:C1839021 semapv:UnspecifiedMatching MONDO:0010776 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial skos:exactMatch mesh:C564024 semapv:UnspecifiedMatching MONDO:0010777 cardiomyopathy, infantile hypertrophic skos:exactMatch DOID:0111753 infantile hypertrophic cardiomyopathy semapv:UnspecifiedMatching MONDO:0010777 cardiomyopathy, infantile hypertrophic skos:exactMatch OMIM:500006 cardiomyopathy, infantile hypertrophic semapv:UnspecifiedMatching MONDO:0010777 cardiomyopathy, infantile hypertrophic skos:exactMatch UMLS:C2748884 semapv:UnspecifiedMatching MONDO:0010778 cyclic vomiting syndrome skos:exactMatch OMIM:500007 cyclic vomiting syndrome semapv:UnspecifiedMatching MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:exactMatch DOID:0111751 mitochondrial nonsyndromic sensorineural deafness semapv:UnspecifiedMatching MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:exactMatch OMIM:500008 deafness, nonsyndromic sensorineural, mitochondrial semapv:UnspecifiedMatching MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:exactMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:UnspecifiedMatching MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:exactMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:UnspecifiedMatching MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:exactMatch Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency semapv:UnspecifiedMatching MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:exactMatch UMLS:C3151898 semapv:UnspecifiedMatching MONDO:0010781 ataxia and polyneuropathy, adult-onset skos:exactMatch DOID:0111750 adult-onset ataxia and polyneuropathy semapv:UnspecifiedMatching MONDO:0010781 ataxia and polyneuropathy, adult-onset skos:exactMatch OMIM:500010 ataxia and polyneuropathy, adult-onset semapv:UnspecifiedMatching MONDO:0010781 ataxia and polyneuropathy, adult-onset skos:exactMatch UMLS:C1838916 semapv:UnspecifiedMatching MONDO:0010781 ataxia and polyneuropathy, adult-onset skos:exactMatch mesh:C564020 semapv:UnspecifiedMatching MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 skos:exactMatch DOID:0111184 myopathy, lactic acidosis, and sideroblastic anemia 3 semapv:UnspecifiedMatching MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 skos:exactMatch OMIM:500011 myopathy, lactic acidosis, and sideroblastic anemia 3 semapv:UnspecifiedMatching MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 skos:exactMatch UMLS:C4225415 semapv:UnspecifiedMatching MONDO:0010784 chloramphenicol toxicity skos:exactMatch OMIM:515000 chloramphenicol toxicity semapv:UnspecifiedMatching MONDO:0010785 maternally-inherited diabetes and deafness skos:exactMatch NCIT:C131859 Mitochondrial Diabetes semapv:UnspecifiedMatching MONDO:0010785 maternally-inherited diabetes and deafness skos:exactMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:UnspecifiedMatching MONDO:0010785 maternally-inherited diabetes and deafness skos:exactMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:UnspecifiedMatching MONDO:0010785 maternally-inherited diabetes and deafness skos:exactMatch SCTID:237619009 semapv:UnspecifiedMatching MONDO:0010785 maternally-inherited diabetes and deafness skos:exactMatch UMLS:C0342289 semapv:UnspecifiedMatching MONDO:0010785 maternally-inherited diabetes and deafness skos:exactMatch mesh:C536246 semapv:UnspecifiedMatching MONDO:0010786 chronic diarrhea with villous atrophy skos:exactMatch OMIM:520100 diarrhea, chronic, with villous atrophy semapv:UnspecifiedMatching MONDO:0010786 chronic diarrhea with villous atrophy skos:exactMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:UnspecifiedMatching MONDO:0010786 chronic diarrhea with villous atrophy skos:exactMatch UMLS:C1838912 semapv:UnspecifiedMatching MONDO:0010786 chronic diarrhea with villous atrophy skos:exactMatch mesh:C564019 semapv:UnspecifiedMatching MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch DOID:12934 Kearns-Sayre syndrome semapv:UnspecifiedMatching MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch NCIT:C84798 Kearns-Sayre Syndrome semapv:UnspecifiedMatching MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch OMIM:530000 kearns-sayre syndrome semapv:UnspecifiedMatching MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch Orphanet:480 Kearns-Sayre syndrome semapv:UnspecifiedMatching MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch SCTID:25792000 semapv:UnspecifiedMatching MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch UMLS:C0022541 semapv:UnspecifiedMatching MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch mesh:D007625 semapv:UnspecifiedMatching MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch DOID:705 Leber hereditary optic neuropathy semapv:UnspecifiedMatching MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch NCIT:C84808 Leber Hereditary Optic Atrophy semapv:UnspecifiedMatching MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch OMIM:535000 leber optic atrophy semapv:UnspecifiedMatching MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch Orphanet:104 Leber hereditary optic neuropathy semapv:UnspecifiedMatching MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch SCTID:58610003 semapv:UnspecifiedMatching MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch UMLS:C0917796 semapv:UnspecifiedMatching MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch mesh:D029242 semapv:UnspecifiedMatching MONDO:0010789 MELAS syndrome skos:exactMatch DOID:3687 MELAS syndrome semapv:UnspecifiedMatching MONDO:0010789 MELAS syndrome skos:exactMatch ICD10CM:E88.41 MELAS syndrome semapv:UnspecifiedMatching MONDO:0010789 MELAS syndrome skos:exactMatch NCIT:C84885 MELAS Syndrome semapv:UnspecifiedMatching MONDO:0010789 MELAS syndrome skos:exactMatch OMIM:540000 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes semapv:UnspecifiedMatching MONDO:0010789 MELAS syndrome skos:exactMatch Orphanet:550 MELAS semapv:UnspecifiedMatching MONDO:0010789 MELAS syndrome skos:exactMatch SCTID:39925003 semapv:UnspecifiedMatching MONDO:0010789 MELAS syndrome skos:exactMatch UMLS:C0162671 semapv:UnspecifiedMatching MONDO:0010789 MELAS syndrome skos:exactMatch mesh:D017241 semapv:UnspecifiedMatching MONDO:0010790 MERRF syndrome skos:exactMatch DOID:310 MERRF syndrome semapv:UnspecifiedMatching MONDO:0010790 MERRF syndrome skos:exactMatch ICD10CM:E88.42 MERRF syndrome semapv:UnspecifiedMatching MONDO:0010790 MERRF syndrome skos:exactMatch NCIT:C84889 Myoclonic Epilepsy Associated with Ragged-Red Fibers semapv:UnspecifiedMatching MONDO:0010790 MERRF syndrome skos:exactMatch OMIM:545000 myoclonic epilepsy associated with ragged-red fibers semapv:UnspecifiedMatching MONDO:0010790 MERRF syndrome skos:exactMatch Orphanet:551 MERRF semapv:UnspecifiedMatching MONDO:0010790 MERRF syndrome skos:exactMatch SCTID:68448003 semapv:UnspecifiedMatching MONDO:0010790 MERRF syndrome skos:exactMatch UMLS:C0162672 semapv:UnspecifiedMatching MONDO:0010790 MERRF syndrome skos:exactMatch mesh:D017243 semapv:UnspecifiedMatching MONDO:0010791 myoglobinuria, recurrent skos:exactMatch OMIM:550500 myoglobinuria, recurrent semapv:UnspecifiedMatching MONDO:0010791 myoglobinuria, recurrent skos:exactMatch mesh:C564018 semapv:UnspecifiedMatching MONDO:0010792 lethal infantile mitochondrial myopathy skos:exactMatch OMIM:551000 mitochondrial myopathy, lethal, infantile semapv:UnspecifiedMatching MONDO:0010792 lethal infantile mitochondrial myopathy skos:exactMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:UnspecifiedMatching MONDO:0010792 lethal infantile mitochondrial myopathy skos:exactMatch SCTID:766251006 semapv:UnspecifiedMatching MONDO:0010792 lethal infantile mitochondrial myopathy skos:exactMatch UMLS:C1838876 semapv:UnspecifiedMatching MONDO:0010792 lethal infantile mitochondrial myopathy skos:exactMatch mesh:C564017 semapv:UnspecifiedMatching MONDO:0010793 nephropathy, chronic tubulointerstitial skos:exactMatch OMIM:551200 nephropathy, chronic tubulointerstitial semapv:UnspecifiedMatching MONDO:0010793 nephropathy, chronic tubulointerstitial skos:exactMatch UMLS:C1838875 semapv:UnspecifiedMatching MONDO:0010793 nephropathy, chronic tubulointerstitial skos:exactMatch mesh:C564016 semapv:UnspecifiedMatching MONDO:0010794 NARP syndrome skos:exactMatch DOID:0111273 NARP syndrome semapv:UnspecifiedMatching MONDO:0010794 NARP syndrome skos:exactMatch OMIM:551500 neuropathy, ataxia, and retinitis pigmentosa semapv:UnspecifiedMatching MONDO:0010794 NARP syndrome skos:exactMatch Orphanet:644 NARP syndrome semapv:UnspecifiedMatching MONDO:0010794 NARP syndrome skos:exactMatch UMLS:C1328349 semapv:UnspecifiedMatching MONDO:0010794 NARP syndrome skos:exactMatch mesh:C537396 semapv:UnspecifiedMatching MONDO:0010795 oncocytic neoplasm skos:exactMatch NCIT:C7072 Oncocytic Neoplasm semapv:UnspecifiedMatching MONDO:0010795 oncocytic neoplasm skos:exactMatch OMIM:553000 oncocytoma semapv:UnspecifiedMatching MONDO:0010795 oncocytic neoplasm skos:exactMatch UMLS:C1378050 semapv:UnspecifiedMatching MONDO:0010796 Parkinson disease, mitochondrial skos:exactMatch OMIM:556500 parkinson disease, mitochondrial semapv:UnspecifiedMatching MONDO:0010796 Parkinson disease, mitochondrial skos:exactMatch UMLS:C1838867 semapv:UnspecifiedMatching MONDO:0010796 Parkinson disease, mitochondrial skos:exactMatch mesh:C564015 semapv:UnspecifiedMatching MONDO:0010797 Pearson syndrome skos:exactMatch DOID:0060067 Pearson syndrome semapv:UnspecifiedMatching MONDO:0010797 Pearson syndrome skos:exactMatch NCIT:C115326 Pearson Syndrome semapv:UnspecifiedMatching MONDO:0010797 Pearson syndrome skos:exactMatch OMIM:557000 pearson marrow-pancreas syndrome semapv:UnspecifiedMatching MONDO:0010797 Pearson syndrome skos:exactMatch Orphanet:699 Pearson syndrome semapv:UnspecifiedMatching MONDO:0010797 Pearson syndrome skos:exactMatch SCTID:237985009 semapv:UnspecifiedMatching MONDO:0010797 Pearson syndrome skos:exactMatch UMLS:C0342784 semapv:UnspecifiedMatching MONDO:0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome skos:exactMatch OMIM:560000 renal tubulopathy, diabetes mellitus, and cerebellar ataxia semapv:UnspecifiedMatching MONDO:0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome skos:exactMatch UMLS:C3151959 semapv:UnspecifiedMatching MONDO:0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome skos:exactMatch mesh:C564014 semapv:UnspecifiedMatching MONDO:0010799 deafness, aminoglycoside-induced skos:exactMatch DOID:0111734 aminoglycoside-induced deafness semapv:UnspecifiedMatching MONDO:0010799 deafness, aminoglycoside-induced skos:exactMatch OMIM:580000 deafness, aminoglycoside-induced semapv:UnspecifiedMatching MONDO:0010799 deafness, aminoglycoside-induced skos:exactMatch UMLS:C1838854 semapv:UnspecifiedMatching MONDO:0010799 deafness, aminoglycoside-induced skos:exactMatch mesh:C564013 semapv:UnspecifiedMatching MONDO:0010800 Wolfram syndrome, mitochondrial form skos:exactMatch DOID:0080583 Wolfram syndrome, mitochondrial form semapv:UnspecifiedMatching MONDO:0010800 Wolfram syndrome, mitochondrial form skos:exactMatch OMIM:598500 wolfram syndrome, mitochondrial form semapv:UnspecifiedMatching MONDO:0010800 Wolfram syndrome, mitochondrial form skos:exactMatch UMLS:C1838782 semapv:UnspecifiedMatching MONDO:0010800 Wolfram syndrome, mitochondrial form skos:exactMatch mesh:C564012 semapv:UnspecifiedMatching MONDO:0010801 spondylocamptodactyly syndrome skos:exactMatch OMIM:600000 spondylocamptodactyly semapv:UnspecifiedMatching MONDO:0010801 spondylocamptodactyly syndrome skos:exactMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:UnspecifiedMatching MONDO:0010801 spondylocamptodactyly syndrome skos:exactMatch SCTID:716231009 semapv:UnspecifiedMatching MONDO:0010801 spondylocamptodactyly syndrome skos:exactMatch UMLS:C1838781 semapv:UnspecifiedMatching MONDO:0010801 spondylocamptodactyly syndrome skos:exactMatch mesh:C535779 semapv:UnspecifiedMatching MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:UnspecifiedMatching MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:UnspecifiedMatching MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:UnspecifiedMatching MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch SCTID:722206009 semapv:UnspecifiedMatching MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch mesh:C564011 semapv:UnspecifiedMatching MONDO:0010803 Eiken syndrome skos:exactMatch DOID:0111732 Eiken syndrome semapv:UnspecifiedMatching MONDO:0010803 Eiken syndrome skos:exactMatch OMIM:600002 eiken syndrome semapv:UnspecifiedMatching MONDO:0010803 Eiken syndrome skos:exactMatch Orphanet:79106 Eiken syndrome semapv:UnspecifiedMatching MONDO:0010803 Eiken syndrome skos:exactMatch SCTID:720863002 semapv:UnspecifiedMatching MONDO:0010803 Eiken syndrome skos:exactMatch UMLS:C1838779 semapv:UnspecifiedMatching MONDO:0010803 Eiken syndrome skos:exactMatch mesh:C564010 semapv:UnspecifiedMatching MONDO:0010804 obsolete BRCATA skos:exactMatch OMIM:600048 semapv:UnspecifiedMatching MONDO:0010805 bladder exstrophy skos:exactMatch DOID:0080174 bladder exstrophy semapv:UnspecifiedMatching MONDO:0010805 bladder exstrophy skos:exactMatch NCIT:C123207 Bladder Exstrophy semapv:UnspecifiedMatching MONDO:0010805 bladder exstrophy skos:exactMatch Orphanet:93930 Bladder exstrophy semapv:UnspecifiedMatching MONDO:0010805 bladder exstrophy skos:exactMatch SCTID:61758007 semapv:UnspecifiedMatching MONDO:0010805 bladder exstrophy skos:exactMatch UMLS:C0005689 semapv:UnspecifiedMatching MONDO:0010805 bladder exstrophy skos:exactMatch mesh:D001746 semapv:UnspecifiedMatching MONDO:0010806 retinitis pigmentosa 13 skos:exactMatch DOID:0110403 retinitis pigmentosa 13 semapv:UnspecifiedMatching MONDO:0010806 retinitis pigmentosa 13 skos:exactMatch OMIM:600059 retinitis pigmentosa 13 semapv:UnspecifiedMatching MONDO:0010806 retinitis pigmentosa 13 skos:exactMatch UMLS:C1838702 semapv:UnspecifiedMatching MONDO:0010806 retinitis pigmentosa 13 skos:exactMatch mesh:C564008 semapv:UnspecifiedMatching MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:exactMatch DOID:0110477 autosomal recessive nonsyndromic deafness 2 semapv:UnspecifiedMatching MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:exactMatch OMIM:600060 deafness, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:exactMatch UMLS:C1838701 semapv:UnspecifiedMatching MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:exactMatch mesh:C564007 semapv:UnspecifiedMatching MONDO:0010808 fatal familial insomnia skos:exactMatch DOID:0050433 fatal familial insomnia semapv:UnspecifiedMatching MONDO:0010808 fatal familial insomnia skos:exactMatch ICD10CM:A81.83 Fatal familial insomnia semapv:UnspecifiedMatching MONDO:0010808 fatal familial insomnia skos:exactMatch NCIT:C84711 Fatal Familial Insomnia semapv:UnspecifiedMatching MONDO:0010808 fatal familial insomnia skos:exactMatch OMIM:600072 fatal familial insomnia semapv:UnspecifiedMatching MONDO:0010808 fatal familial insomnia skos:exactMatch Orphanet:466 Fatal familial insomnia semapv:UnspecifiedMatching MONDO:0010808 fatal familial insomnia skos:exactMatch SCTID:83157008 semapv:UnspecifiedMatching MONDO:0010808 fatal familial insomnia skos:exactMatch UMLS:C0206042 semapv:UnspecifiedMatching MONDO:0010808 fatal familial insomnia skos:exactMatch mesh:D034062 semapv:UnspecifiedMatching MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:exactMatch DOID:0060761 familial chronic myelocytic leukemia-like syndrome semapv:UnspecifiedMatching MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:exactMatch OMIM:600080 myelocytic leukemia-like syndrome, familial, chronic semapv:UnspecifiedMatching MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:exactMatch UMLS:C1838670 semapv:UnspecifiedMatching MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:exactMatch mesh:C536093 semapv:UnspecifiedMatching MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:exactMatch DOID:0080887 vitamin D-dependent rickets type 1B semapv:UnspecifiedMatching MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:exactMatch NCIT:C131074 Vitamin D 25-Hydroxylase Deficiency semapv:UnspecifiedMatching MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:exactMatch OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b semapv:UnspecifiedMatching MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:exactMatch UMLS:C1838657 semapv:UnspecifiedMatching MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:exactMatch mesh:C564005 semapv:UnspecifiedMatching MONDO:0010811 benign prostatic hyperplasia skos:exactMatch DOID:11132 prostatic hypertrophy semapv:UnspecifiedMatching MONDO:0010811 benign prostatic hyperplasia skos:exactMatch NCIT:C2897 Benign Prostatic Hyperplasia semapv:UnspecifiedMatching MONDO:0010811 benign prostatic hyperplasia skos:exactMatch OMIM:600082 prostatic hyperplasia, benign semapv:UnspecifiedMatching MONDO:0010811 benign prostatic hyperplasia skos:exactMatch SCTID:266569009 semapv:UnspecifiedMatching MONDO:0010811 benign prostatic hyperplasia skos:exactMatch UMLS:C1704272 semapv:UnspecifiedMatching MONDO:0010811 benign prostatic hyperplasia skos:exactMatch mesh:D011470 semapv:UnspecifiedMatching MONDO:0010812 macrocytosis, familial skos:exactMatch OMIM:600084 macrocytosis, familial semapv:UnspecifiedMatching MONDO:0010812 macrocytosis, familial skos:exactMatch UMLS:C1838656 semapv:UnspecifiedMatching MONDO:0010812 macrocytosis, familial skos:exactMatch mesh:C564004 semapv:UnspecifiedMatching MONDO:0010813 pancreatic beta cell agenesis with neonatal diabetes mellitus skos:exactMatch OMIM:600089 pancreatic beta cell agenesis with neonatal diabetes mellitus semapv:UnspecifiedMatching MONDO:0010813 pancreatic beta cell agenesis with neonatal diabetes mellitus skos:exactMatch UMLS:C1838655 semapv:UnspecifiedMatching MONDO:0010813 pancreatic beta cell agenesis with neonatal diabetes mellitus skos:exactMatch mesh:C538111 semapv:UnspecifiedMatching MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:exactMatch DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome semapv:UnspecifiedMatching MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:exactMatch OMIM:600092 nivelon-nivelon-mabille syndrome semapv:UnspecifiedMatching MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:exactMatch Orphanet:1422 Chondrodysplasia-difference of sex development syndrome semapv:UnspecifiedMatching MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:exactMatch SCTID:720851007 semapv:UnspecifiedMatching MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:exactMatch UMLS:C1838654 semapv:UnspecifiedMatching MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:exactMatch mesh:C536123 semapv:UnspecifiedMatching MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies skos:exactMatch DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies semapv:UnspecifiedMatching MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies skos:exactMatch OMIM:600093 spondyloepiphyseal dysplasia tarda with characteristic facies semapv:UnspecifiedMatching MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies skos:exactMatch UMLS:C1838653 semapv:UnspecifiedMatching MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies skos:exactMatch mesh:C564003 semapv:UnspecifiedMatching MONDO:0010816 Qazi Markouizos syndrome skos:exactMatch DOID:0050740 Qazi Markouizos syndrome semapv:UnspecifiedMatching MONDO:0010816 Qazi Markouizos syndrome skos:exactMatch OMIM:600096 puerto rican infant hypotonia syndrome semapv:UnspecifiedMatching MONDO:0010816 Qazi Markouizos syndrome skos:exactMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:UnspecifiedMatching MONDO:0010816 Qazi Markouizos syndrome skos:exactMatch SCTID:721887007 semapv:UnspecifiedMatching MONDO:0010816 Qazi Markouizos syndrome skos:exactMatch UMLS:C2931142 semapv:UnspecifiedMatching MONDO:0010816 Qazi Markouizos syndrome skos:exactMatch mesh:C536259 semapv:UnspecifiedMatching MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:exactMatch DOID:0110558 autosomal dominant nonsyndromic deafness 2A semapv:UnspecifiedMatching MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:exactMatch OMIM:600101 deafness, autosomal dominant 2a semapv:UnspecifiedMatching MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:exactMatch UMLS:C2677637 semapv:UnspecifiedMatching MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:exactMatch mesh:C567441 semapv:UnspecifiedMatching MONDO:0010818 retinitis pigmentosa 12 skos:exactMatch DOID:0110358 retinitis pigmentosa 12 semapv:UnspecifiedMatching MONDO:0010818 retinitis pigmentosa 12 skos:exactMatch OMIM:600105 retinitis pigmentosa 12 semapv:UnspecifiedMatching MONDO:0010818 retinitis pigmentosa 12 skos:exactMatch UMLS:C1838647 semapv:UnspecifiedMatching MONDO:0010818 retinitis pigmentosa 12 skos:exactMatch mesh:C563999 semapv:UnspecifiedMatching MONDO:0010819 Stargardt disease 3 skos:exactMatch OMIM:600110 stargardt disease 3 semapv:UnspecifiedMatching MONDO:0010819 Stargardt disease 3 skos:exactMatch UMLS:C1838644 semapv:UnspecifiedMatching MONDO:0010819 Stargardt disease 3 skos:exactMatch mesh:C535805 semapv:UnspecifiedMatching MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:exactMatch DOID:0060368 Parkinson's disease 2 semapv:UnspecifiedMatching MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:exactMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:UnspecifiedMatching MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:exactMatch UMLS:C1868675 semapv:UnspecifiedMatching MONDO:0010821 familial developmental dysphasia skos:exactMatch OMIM:600117 dysphasia, familial developmental semapv:UnspecifiedMatching MONDO:0010821 familial developmental dysphasia skos:exactMatch Orphanet:1799 Familial developmental dysphasia semapv:UnspecifiedMatching MONDO:0010821 familial developmental dysphasia skos:exactMatch SCTID:721220004 semapv:UnspecifiedMatching MONDO:0010821 familial developmental dysphasia skos:exactMatch UMLS:C1838630 semapv:UnspecifiedMatching MONDO:0010821 familial developmental dysphasia skos:exactMatch mesh:C563997 semapv:UnspecifiedMatching MONDO:0010822 Warburg micro syndrome 1 skos:exactMatch DOID:0110716 Warburg micro syndrome 1 semapv:UnspecifiedMatching MONDO:0010822 Warburg micro syndrome 1 skos:exactMatch OMIM:600118 warburg micro syndrome 1 semapv:UnspecifiedMatching MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:exactMatch DOID:0110853 rhizomelic chondrodysplasia punctata type 3 semapv:UnspecifiedMatching MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:exactMatch OMIM:600121 rhizomelic chondrodysplasia punctata, iia 3 semapv:UnspecifiedMatching MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:exactMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:UnspecifiedMatching MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:exactMatch UMLS:C1838612 semapv:UnspecifiedMatching MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:exactMatch mesh:C537608 semapv:UnspecifiedMatching MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:exactMatch OMIM:600122 male pseudohermaphroditism/mental retardation syndrome, verloes iia semapv:UnspecifiedMatching MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:exactMatch Orphanet:2983 Difference of sex development-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:exactMatch SCTID:719450007 semapv:UnspecifiedMatching MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:exactMatch mesh:C535693 semapv:UnspecifiedMatching MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:exactMatch OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects semapv:UnspecifiedMatching MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:exactMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:UnspecifiedMatching MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:exactMatch UMLS:C1838606 semapv:UnspecifiedMatching MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:exactMatch mesh:C563994 semapv:UnspecifiedMatching MONDO:0010826 childhood absence epilepsy skos:exactMatch DOID:1825 childhood absence epilepsy semapv:UnspecifiedMatching MONDO:0010826 childhood absence epilepsy skos:exactMatch OMIMPS:600131 semapv:UnspecifiedMatching MONDO:0010826 childhood absence epilepsy skos:exactMatch Orphanet:64280 Childhood absence epilepsy semapv:UnspecifiedMatching MONDO:0010826 childhood absence epilepsy skos:exactMatch SCTID:50866000 semapv:UnspecifiedMatching MONDO:0010827 retinitis pigmentosa 14 skos:exactMatch DOID:0110381 retinitis pigmentosa 14 semapv:UnspecifiedMatching MONDO:0010827 retinitis pigmentosa 14 skos:exactMatch OMIM:600132 retinitis pigmentosa 14 semapv:UnspecifiedMatching MONDO:0010827 retinitis pigmentosa 14 skos:exactMatch UMLS:C1838603 semapv:UnspecifiedMatching MONDO:0010828 retinitis pigmentosa 11 skos:exactMatch DOID:0110408 retinitis pigmentosa 11 semapv:UnspecifiedMatching MONDO:0010828 retinitis pigmentosa 11 skos:exactMatch OMIM:600138 retinitis pigmentosa 11 semapv:UnspecifiedMatching MONDO:0010828 retinitis pigmentosa 11 skos:exactMatch UMLS:C1838601 semapv:UnspecifiedMatching MONDO:0010828 retinitis pigmentosa 11 skos:exactMatch mesh:C563991 semapv:UnspecifiedMatching MONDO:0010829 CARASIL syndrome skos:exactMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:UnspecifiedMatching MONDO:0010829 CARASIL syndrome skos:exactMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:UnspecifiedMatching MONDO:0010829 CARASIL syndrome skos:exactMatch SCTID:703219008 semapv:UnspecifiedMatching MONDO:0010829 CARASIL syndrome skos:exactMatch UMLS:C1838577 semapv:UnspecifiedMatching MONDO:0010829 CARASIL syndrome skos:exactMatch mesh:C563990 semapv:UnspecifiedMatching MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:exactMatch DOID:0110723 neuronal ceroid lipofuscinosis 8 semapv:UnspecifiedMatching MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:exactMatch OMIM:600143 ceroid lipofuscinosis, neuronal, 8 semapv:UnspecifiedMatching MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:exactMatch Orphanet:228354 OBSOLETE : CLN8 disease semapv:UnspecifiedMatching MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:exactMatch SCTID:703526007 semapv:UnspecifiedMatching MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:exactMatch mesh:C537952 semapv:UnspecifiedMatching MONDO:0010831 familial caudal dysgenesis skos:exactMatch NCIT:C99054 Sacral Agenesis semapv:UnspecifiedMatching MONDO:0010831 familial caudal dysgenesis skos:exactMatch OMIM:600145 sacral defect with anterior meningocele semapv:UnspecifiedMatching MONDO:0010831 familial caudal dysgenesis skos:exactMatch Orphanet:1768 Familial caudal dysgenesis semapv:UnspecifiedMatching MONDO:0010831 familial caudal dysgenesis skos:exactMatch SCTID:722493007 semapv:UnspecifiedMatching MONDO:0010832 Bardet-Biedl syndrome 3 skos:exactMatch DOID:0110125 Bardet-Biedl syndrome 3 semapv:UnspecifiedMatching MONDO:0010832 Bardet-Biedl syndrome 3 skos:exactMatch OMIM:600151 bardet-biedl syndrome 3 semapv:UnspecifiedMatching MONDO:0010832 Bardet-Biedl syndrome 3 skos:exactMatch UMLS:C1859564 semapv:UnspecifiedMatching MONDO:0010832 Bardet-Biedl syndrome 3 skos:exactMatch mesh:C537911 semapv:UnspecifiedMatching MONDO:0010833 Hirschsprung disease, susceptibility to, 2 skos:exactMatch OMIM:600155 hirschsprung disease, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0010834 Hirschsprung disease, susceptibility to, 5 skos:exactMatch OMIM:600156 hirschsprung disease, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:exactMatch OMIM:600159 pterygium colli and mental retardation with facial and digital anomalies semapv:UnspecifiedMatching MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:exactMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:UnspecifiedMatching MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:exactMatch SCTID:719256004 semapv:UnspecifiedMatching MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:exactMatch UMLS:C1838562 semapv:UnspecifiedMatching MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:exactMatch mesh:C535831 semapv:UnspecifiedMatching MONDO:0010836 nanophthalmos 1 skos:exactMatch OMIM:600165 nanophthalmos 1 semapv:UnspecifiedMatching MONDO:0010836 nanophthalmos 1 skos:exactMatch UMLS:C1838502 semapv:UnspecifiedMatching MONDO:0010836 nanophthalmos 1 skos:exactMatch mesh:C563983 semapv:UnspecifiedMatching MONDO:0010837 primary hyperparathyroidism skos:exactMatch DOID:11202 primary hyperparathyroidism semapv:UnspecifiedMatching MONDO:0010837 primary hyperparathyroidism skos:exactMatch NCIT:C48280 Primary Hyperparathyroidism semapv:UnspecifiedMatching MONDO:0010837 primary hyperparathyroidism skos:exactMatch SCTID:36348003 semapv:UnspecifiedMatching MONDO:0010837 primary hyperparathyroidism skos:exactMatch mesh:D049950 semapv:UnspecifiedMatching MONDO:0010838 gonadal agenesis skos:exactMatch NCIT:C27228 Gonadal Agenesis semapv:UnspecifiedMatching MONDO:0010838 gonadal agenesis skos:exactMatch OMIM:600171 gonadal agenesis semapv:UnspecifiedMatching MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch DOID:0111215 distal hereditary motor neuronopathy type 8 semapv:UnspecifiedMatching MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch OMIM:600175 neuronopathy, distal hereditary motor, autosomal dominant 8 semapv:UnspecifiedMatching MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy semapv:UnspecifiedMatching MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch SCTID:763067000 semapv:UnspecifiedMatching MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch UMLS:C1838492 semapv:UnspecifiedMatching MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch mesh:C563981 semapv:UnspecifiedMatching MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:exactMatch OMIM:600176 pachygyria with impaired intellectual development, seizures, and arachnoid cysts semapv:UnspecifiedMatching MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:exactMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:UnspecifiedMatching MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:exactMatch SCTID:763861000 semapv:UnspecifiedMatching MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:exactMatch UMLS:C1838491 semapv:UnspecifiedMatching MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:exactMatch mesh:C538091 semapv:UnspecifiedMatching MONDO:0010841 Waardenburg syndrome type 2B skos:exactMatch DOID:0110947 Waardenburg syndrome type 2B semapv:UnspecifiedMatching MONDO:0010841 Waardenburg syndrome type 2B skos:exactMatch OMIM:600193 waardenburg syndrome, iia 2b semapv:UnspecifiedMatching MONDO:0010841 Waardenburg syndrome type 2B skos:exactMatch UMLS:C1838447 semapv:UnspecifiedMatching MONDO:0010841 Waardenburg syndrome type 2B skos:exactMatch mesh:C536465 semapv:UnspecifiedMatching MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:exactMatch DOID:0050792 multiple cutaneous and mucosal venous malformations semapv:UnspecifiedMatching MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:exactMatch OMIM:600195 venous malformations, multiple cutaneous and mucosal semapv:UnspecifiedMatching MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:exactMatch Orphanet:2451 Mucocutaneous venous malformations semapv:UnspecifiedMatching MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:exactMatch SCTID:699301008 semapv:UnspecifiedMatching MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:exactMatch mesh:C563977 semapv:UnspecifiedMatching MONDO:0010843 dyslexia, susceptibility to, 2 skos:exactMatch OMIM:600202 dyslexia, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0010844 epiphyseal dysplasia, multiple, 2 skos:exactMatch DOID:0070298 multiple epiphyseal dysplasia 2 semapv:UnspecifiedMatching MONDO:0010844 epiphyseal dysplasia, multiple, 2 skos:exactMatch OMIM:600204 epiphyseal dysplasia, multiple, 2 semapv:UnspecifiedMatching MONDO:0010844 epiphyseal dysplasia, multiple, 2 skos:exactMatch UMLS:C1838429 semapv:UnspecifiedMatching MONDO:0010844 epiphyseal dysplasia, multiple, 2 skos:exactMatch mesh:C535502 semapv:UnspecifiedMatching MONDO:0010846 exostoses, multiple, type III skos:exactMatch OMIM:600209 exostoses, multiple, iia 3 semapv:UnspecifiedMatching MONDO:0010846 exostoses, multiple, type III skos:exactMatch UMLS:C1838420 semapv:UnspecifiedMatching MONDO:0010846 exostoses, multiple, type III skos:exactMatch mesh:C563975 semapv:UnspecifiedMatching MONDO:0010847 spinocerebellar ataxia type 4 skos:exactMatch DOID:0050957 spinocerebellar ataxia type 4 semapv:UnspecifiedMatching MONDO:0010847 spinocerebellar ataxia type 4 skos:exactMatch OMIM:600223 spinocerebellar ataxia 4 semapv:UnspecifiedMatching MONDO:0010847 spinocerebellar ataxia type 4 skos:exactMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:UnspecifiedMatching MONDO:0010847 spinocerebellar ataxia type 4 skos:exactMatch SCTID:715755008 semapv:UnspecifiedMatching MONDO:0010847 spinocerebellar ataxia type 4 skos:exactMatch UMLS:C0752122 semapv:UnspecifiedMatching MONDO:0010848 spinocerebellar ataxia type 5 skos:exactMatch DOID:0050882 spinocerebellar ataxia type 5 semapv:UnspecifiedMatching MONDO:0010848 spinocerebellar ataxia type 5 skos:exactMatch OMIM:600224 spinocerebellar ataxia 5 semapv:UnspecifiedMatching MONDO:0010848 spinocerebellar ataxia type 5 skos:exactMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:UnspecifiedMatching MONDO:0010848 spinocerebellar ataxia type 5 skos:exactMatch SCTID:719302009 semapv:UnspecifiedMatching MONDO:0010848 spinocerebellar ataxia type 5 skos:exactMatch UMLS:C0752123 semapv:UnspecifiedMatching MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:exactMatch DOID:0111707 Bothnian type palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:exactMatch OMIM:600231 palmoplantar keratoderma, bothnian iia semapv:UnspecifiedMatching MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:exactMatch Orphanet:2337 Diffuse palmoplantar keratoderma, Bothnian type semapv:UnspecifiedMatching MONDO:0010850 Tessier number 4 facial cleft skos:exactMatch DOID:0111706 oblique facial clefting 1 semapv:UnspecifiedMatching MONDO:0010850 Tessier number 4 facial cleft skos:exactMatch OMIM:600251 facial clefting, oblique, 1 semapv:UnspecifiedMatching MONDO:0010850 Tessier number 4 facial cleft skos:exactMatch Orphanet:141258 Tessier number 4 facial cleft semapv:UnspecifiedMatching MONDO:0010851 Lowry-MacLean syndrome skos:exactMatch OMIM:600252 lowry-maclean syndrome semapv:UnspecifiedMatching MONDO:0010851 Lowry-MacLean syndrome skos:exactMatch Orphanet:2409 Lowry-MacLean syndrome semapv:UnspecifiedMatching MONDO:0010851 Lowry-MacLean syndrome skos:exactMatch SCTID:721974000 semapv:UnspecifiedMatching MONDO:0010851 Lowry-MacLean syndrome skos:exactMatch UMLS:C0796020 semapv:UnspecifiedMatching MONDO:0010851 Lowry-MacLean syndrome skos:exactMatch mesh:C537037 semapv:UnspecifiedMatching MONDO:0010852 chromosome 8Q12.1-q21.2 deletion syndrome skos:exactMatch OMIM:600257 chromosome 8q12.1-q21.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0010852 chromosome 8Q12.1-q21.2 deletion syndrome skos:exactMatch UMLS:C1838346 semapv:UnspecifiedMatching MONDO:0010852 chromosome 8Q12.1-q21.2 deletion syndrome skos:exactMatch mesh:C536574 semapv:UnspecifiedMatching MONDO:0010853 Helicobacter pylori infection, susceptibility to skos:exactMatch OMIM:600263 helicobacter pylori infection, susceptibility to semapv:UnspecifiedMatching MONDO:0010853 Helicobacter pylori infection, susceptibility to skos:exactMatch UMLS:C1838332 semapv:UnspecifiedMatching MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:exactMatch DOID:0111705 oculoectodermal syndrome semapv:UnspecifiedMatching MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:exactMatch OMIM:600268 oculoectodermal syndrome semapv:UnspecifiedMatching MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:exactMatch Orphanet:3339 Toriello-Lacassie-Droste syndrome semapv:UnspecifiedMatching MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:exactMatch SCTID:723554006 semapv:UnspecifiedMatching MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:exactMatch UMLS:C1838329 semapv:UnspecifiedMatching MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:exactMatch mesh:C563969 semapv:UnspecifiedMatching MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:exactMatch OMIM:600269 short tarsus with absence of lower eyelashes semapv:UnspecifiedMatching MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:exactMatch Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome semapv:UnspecifiedMatching MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:exactMatch SCTID:721075001 semapv:UnspecifiedMatching MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:exactMatch UMLS:C1838328 semapv:UnspecifiedMatching MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:exactMatch mesh:C537036 semapv:UnspecifiedMatching MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:exactMatch OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis semapv:UnspecifiedMatching MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:exactMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:UnspecifiedMatching MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:exactMatch SCTID:765331004 semapv:UnspecifiedMatching MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:exactMatch UMLS:C1838327 semapv:UnspecifiedMatching MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:exactMatch mesh:C536328 semapv:UnspecifiedMatching MONDO:0010857 semantic dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:UnspecifiedMatching MONDO:0010857 semantic dementia skos:exactMatch Orphanet:100069 Semantic dementia semapv:UnspecifiedMatching MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:exactMatch OMIM:600302 fryns macrocephaly semapv:UnspecifiedMatching MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:exactMatch Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:exactMatch SCTID:716108004 semapv:UnspecifiedMatching MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:exactMatch UMLS:C1838281 semapv:UnspecifiedMatching MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:exactMatch mesh:C563963 semapv:UnspecifiedMatching MONDO:0010859 obsolete atrioventricular septal defect 3 skos:exactMatch OMIM:600309 semapv:UnspecifiedMatching MONDO:0010859 obsolete atrioventricular septal defect 3 skos:exactMatch UMLS:C3275750 semapv:UnspecifiedMatching MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:exactMatch DOID:0110488 autosomal recessive nonsyndromic deafness 3 semapv:UnspecifiedMatching MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:exactMatch OMIM:600316 deafness, autosomal recessive 3 semapv:UnspecifiedMatching MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:exactMatch UMLS:C1838263 semapv:UnspecifiedMatching MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:exactMatch mesh:C563961 semapv:UnspecifiedMatching MONDO:0010861 type 1 diabetes mellitus 3 skos:exactMatch DOID:0110742 type 1 diabetes mellitus 3 semapv:UnspecifiedMatching MONDO:0010861 type 1 diabetes mellitus 3 skos:exactMatch OMIM:600318 iia 1 diabetes mellitus 3 semapv:UnspecifiedMatching MONDO:0010861 type 1 diabetes mellitus 3 skos:exactMatch UMLS:C1838262 semapv:UnspecifiedMatching MONDO:0010861 type 1 diabetes mellitus 3 skos:exactMatch mesh:C563960 semapv:UnspecifiedMatching MONDO:0010862 type 1 diabetes mellitus 4 skos:exactMatch DOID:0110743 type 1 diabetes mellitus 4 semapv:UnspecifiedMatching MONDO:0010862 type 1 diabetes mellitus 4 skos:exactMatch OMIM:600319 iia 1 diabetes mellitus 4 semapv:UnspecifiedMatching MONDO:0010862 type 1 diabetes mellitus 4 skos:exactMatch UMLS:C1838261 semapv:UnspecifiedMatching MONDO:0010862 type 1 diabetes mellitus 4 skos:exactMatch mesh:C563959 semapv:UnspecifiedMatching MONDO:0010863 type 1 diabetes mellitus 5 skos:exactMatch DOID:0110744 type 1 diabetes mellitus 5 semapv:UnspecifiedMatching MONDO:0010863 type 1 diabetes mellitus 5 skos:exactMatch OMIM:600320 iia 1 diabetes mellitus 5 semapv:UnspecifiedMatching MONDO:0010863 type 1 diabetes mellitus 5 skos:exactMatch UMLS:C1838260 semapv:UnspecifiedMatching MONDO:0010863 type 1 diabetes mellitus 5 skos:exactMatch mesh:C563958 semapv:UnspecifiedMatching MONDO:0010864 type 1 diabetes mellitus 7 skos:exactMatch DOID:0110746 type 1 diabetes mellitus 7 semapv:UnspecifiedMatching MONDO:0010864 type 1 diabetes mellitus 7 skos:exactMatch OMIM:600321 iia 1 diabetes mellitus 7 semapv:UnspecifiedMatching MONDO:0010864 type 1 diabetes mellitus 7 skos:exactMatch UMLS:C1838259 semapv:UnspecifiedMatching MONDO:0010864 type 1 diabetes mellitus 7 skos:exactMatch mesh:C563957 semapv:UnspecifiedMatching MONDO:0010865 pseudoaminopterin syndrome skos:exactMatch OMIM:600325 aminopterin syndrome sine aminopterin semapv:UnspecifiedMatching MONDO:0010865 pseudoaminopterin syndrome skos:exactMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:UnspecifiedMatching MONDO:0010865 pseudoaminopterin syndrome skos:exactMatch SCTID:715867000 semapv:UnspecifiedMatching MONDO:0010865 pseudoaminopterin syndrome skos:exactMatch UMLS:C0795939 semapv:UnspecifiedMatching MONDO:0010865 pseudoaminopterin syndrome skos:exactMatch mesh:C535823 semapv:UnspecifiedMatching MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:exactMatch DOID:0070343 CSF1R-related brain malformation and osteopetrosis semapv:UnspecifiedMatching MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:exactMatch OMIM:600329 osteopetrosis and infantile neuroaxonal dystrophy semapv:UnspecifiedMatching MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:exactMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:UnspecifiedMatching MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:exactMatch SCTID:724226009 semapv:UnspecifiedMatching MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:exactMatch UMLS:C1838258 semapv:UnspecifiedMatching MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:exactMatch mesh:C536055 semapv:UnspecifiedMatching MONDO:0010867 PARC syndrome skos:exactMatch OMIM:600331 parc syndrome semapv:UnspecifiedMatching MONDO:0010867 PARC syndrome skos:exactMatch Orphanet:2825 PARC syndrome semapv:UnspecifiedMatching MONDO:0010867 PARC syndrome skos:exactMatch UMLS:C1838256 semapv:UnspecifiedMatching MONDO:0010867 PARC syndrome skos:exactMatch mesh:C537174 semapv:UnspecifiedMatching MONDO:0010868 rippling muscle disease 1 skos:exactMatch DOID:0070308 rippling muscle disease 1 semapv:UnspecifiedMatching MONDO:0010868 rippling muscle disease 1 skos:exactMatch OMIM:600332 rippling muscle disease 1 semapv:UnspecifiedMatching MONDO:0010869 motor neuron disease with dementia and ophthalmoplegia skos:exactMatch OMIM:600333 motor neuron disease with dementia and ophthalmoplegia semapv:UnspecifiedMatching MONDO:0010869 motor neuron disease with dementia and ophthalmoplegia skos:exactMatch UMLS:C1838253 semapv:UnspecifiedMatching MONDO:0010869 motor neuron disease with dementia and ophthalmoplegia skos:exactMatch mesh:C563954 semapv:UnspecifiedMatching MONDO:0010870 tibial muscular dystrophy skos:exactMatch DOID:0111078 tibial muscular dystrophy semapv:UnspecifiedMatching MONDO:0010870 tibial muscular dystrophy skos:exactMatch OMIM:600334 tibial muscular dystrophy, tardive semapv:UnspecifiedMatching MONDO:0010870 tibial muscular dystrophy skos:exactMatch Orphanet:609 Tibial muscular dystrophy semapv:UnspecifiedMatching MONDO:0010870 tibial muscular dystrophy skos:exactMatch SCTID:698846009 semapv:UnspecifiedMatching MONDO:0010870 tibial muscular dystrophy skos:exactMatch UMLS:C1838244 semapv:UnspecifiedMatching MONDO:0010871 succinic acidemia skos:exactMatch OMIM:600335 succinic acidemia semapv:UnspecifiedMatching MONDO:0010871 succinic acidemia skos:exactMatch UMLS:C1838243 semapv:UnspecifiedMatching MONDO:0010871 succinic acidemia skos:exactMatch mesh:C563952 semapv:UnspecifiedMatching MONDO:0010872 parotid salivary glands, polycystic dysgenetic disease of skos:exactMatch OMIM:600343 parotid salivary glands, polycystic dysgenetic disease of semapv:UnspecifiedMatching MONDO:0010873 band heterotopia of brain skos:exactMatch OMIM:600348 band heterotopia semapv:UnspecifiedMatching MONDO:0010873 band heterotopia of brain skos:exactMatch UMLS:C4284594 semapv:UnspecifiedMatching MONDO:0010873 band heterotopia of brain skos:exactMatch mesh:C563950 semapv:UnspecifiedMatching MONDO:0010874 enteropathy, familial, with villous edema and immunoglobulin G2 deficiency skos:exactMatch OMIM:600351 enteropathy, familial, with villous edema and immunoglobulin g2 deficiency semapv:UnspecifiedMatching MONDO:0010874 enteropathy, familial, with villous edema and immunoglobulin G2 deficiency skos:exactMatch UMLS:C1838238 semapv:UnspecifiedMatching MONDO:0010874 enteropathy, familial, with villous edema and immunoglobulin G2 deficiency skos:exactMatch mesh:C563949 semapv:UnspecifiedMatching MONDO:0010875 pachydermodactyly, familial skos:exactMatch OMIM:600356 pachydermodactyly, familial semapv:UnspecifiedMatching MONDO:0010875 pachydermodactyly, familial skos:exactMatch UMLS:C1838218 semapv:UnspecifiedMatching MONDO:0010875 pachydermodactyly, familial skos:exactMatch mesh:C563947 semapv:UnspecifiedMatching MONDO:0010876 recessive aplasia cutis congenita of limbs skos:exactMatch OMIM:600360 aplasia cutis congenita of limbs, autosomal recessive semapv:UnspecifiedMatching MONDO:0010876 recessive aplasia cutis congenita of limbs skos:exactMatch SCTID:723500009 semapv:UnspecifiedMatching MONDO:0010876 recessive aplasia cutis congenita of limbs skos:exactMatch UMLS:C1838206 semapv:UnspecifiedMatching MONDO:0010876 recessive aplasia cutis congenita of limbs skos:exactMatch mesh:C536840 semapv:UnspecifiedMatching MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:exactMatch DOID:0080067 Charcot-Marie-Tooth disease type 5 semapv:UnspecifiedMatching MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:exactMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:UnspecifiedMatching MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:exactMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:UnspecifiedMatching MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:exactMatch SCTID:76043009 semapv:UnspecifiedMatching MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:exactMatch UMLS:C4721916 semapv:UnspecifiedMatching MONDO:0010878 hereditary spastic paraplegia 6 skos:exactMatch DOID:0110811 hereditary spastic paraplegia 6 semapv:UnspecifiedMatching MONDO:0010878 hereditary spastic paraplegia 6 skos:exactMatch OMIM:600363 spastic paraplegia 6, autosomal dominant semapv:UnspecifiedMatching MONDO:0010878 hereditary spastic paraplegia 6 skos:exactMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:UnspecifiedMatching MONDO:0010878 hereditary spastic paraplegia 6 skos:exactMatch SCTID:732949006 semapv:UnspecifiedMatching MONDO:0010878 hereditary spastic paraplegia 6 skos:exactMatch UMLS:C1838192 semapv:UnspecifiedMatching MONDO:0010878 hereditary spastic paraplegia 6 skos:exactMatch mesh:C536866 semapv:UnspecifiedMatching MONDO:0010879 CODAS syndrome skos:exactMatch DOID:0111274 CODAS syndrome semapv:UnspecifiedMatching MONDO:0010879 CODAS syndrome skos:exactMatch NCIT:C126744 Codas Syndrome semapv:UnspecifiedMatching MONDO:0010879 CODAS syndrome skos:exactMatch OMIM:600373 codas syndrome semapv:UnspecifiedMatching MONDO:0010879 CODAS syndrome skos:exactMatch Orphanet:1458 CODAS syndrome semapv:UnspecifiedMatching MONDO:0010879 CODAS syndrome skos:exactMatch SCTID:717772000 semapv:UnspecifiedMatching MONDO:0010879 CODAS syndrome skos:exactMatch UMLS:C1838180 semapv:UnspecifiedMatching MONDO:0010879 CODAS syndrome skos:exactMatch mesh:C536434 semapv:UnspecifiedMatching MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 skos:exactMatch OMIM:600376 telangiectasia, hereditary hemorrhagic, iia 2 semapv:UnspecifiedMatching MONDO:0010881 mesomelia-synostoses syndrome skos:exactMatch OMIM:600383 mesomelia-synostoses syndrome semapv:UnspecifiedMatching MONDO:0010881 mesomelia-synostoses syndrome skos:exactMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:UnspecifiedMatching MONDO:0010881 mesomelia-synostoses syndrome skos:exactMatch SCTID:724147004 semapv:UnspecifiedMatching MONDO:0010881 mesomelia-synostoses syndrome skos:exactMatch UMLS:C1838162 semapv:UnspecifiedMatching MONDO:0010881 mesomelia-synostoses syndrome skos:exactMatch mesh:C537348 semapv:UnspecifiedMatching MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:exactMatch OMIM:600384 aphalangia, partial, with syndactyly and duplication of metatarsal 4 semapv:UnspecifiedMatching MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:exactMatch Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome semapv:UnspecifiedMatching MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:exactMatch UMLS:C1838161 semapv:UnspecifiedMatching MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:exactMatch mesh:C563942 semapv:UnspecifiedMatching MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:exactMatch OMIM:600399 pectus excavatum, macrocephaly, short stature, and dysplastic nails semapv:UnspecifiedMatching MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:exactMatch Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:UnspecifiedMatching MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:exactMatch SCTID:763863002 semapv:UnspecifiedMatching MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:exactMatch UMLS:C1838160 semapv:UnspecifiedMatching MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:exactMatch mesh:C536728 semapv:UnspecifiedMatching MONDO:0010884 muscular dystrophy, scapulohumeral skos:exactMatch OMIM:600416 muscular dystrophy, scapulohumeral semapv:UnspecifiedMatching MONDO:0010884 muscular dystrophy, scapulohumeral skos:exactMatch SCTID:240074006 semapv:UnspecifiedMatching MONDO:0010884 muscular dystrophy, scapulohumeral skos:exactMatch UMLS:C0410192 semapv:UnspecifiedMatching MONDO:0010884 muscular dystrophy, scapulohumeral skos:exactMatch mesh:C562932 semapv:UnspecifiedMatching MONDO:0010885 angiokeratoma corporis diffusum with arteriovenous fistulas skos:exactMatch OMIM:600419 angiokeratoma corporis diffusum with arteriovenous fistulas semapv:UnspecifiedMatching MONDO:0010885 angiokeratoma corporis diffusum with arteriovenous fistulas skos:exactMatch UMLS:C1838141 semapv:UnspecifiedMatching MONDO:0010885 angiokeratoma corporis diffusum with arteriovenous fistulas skos:exactMatch mesh:C563940 semapv:UnspecifiedMatching MONDO:0010886 2q37 microdeletion syndrome skos:exactMatch DOID:0111704 chromosome 2q37 deletion syndrome semapv:UnspecifiedMatching MONDO:0010886 2q37 microdeletion syndrome skos:exactMatch NCIT:C129021 Chromosome 2q37 Deletion Syndrome semapv:UnspecifiedMatching MONDO:0010886 2q37 microdeletion syndrome skos:exactMatch OMIM:600430 chromosome 2q37 deletion syndrome semapv:UnspecifiedMatching MONDO:0010886 2q37 microdeletion syndrome skos:exactMatch Orphanet:1001 2q37 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0010886 2q37 microdeletion syndrome skos:exactMatch SCTID:702357000 semapv:UnspecifiedMatching MONDO:0010886 2q37 microdeletion syndrome skos:exactMatch UMLS:C2931817 semapv:UnspecifiedMatching MONDO:0010886 2q37 microdeletion syndrome skos:exactMatch mesh:C538317 semapv:UnspecifiedMatching MONDO:0010887 isolated anterior cervical hypertrichosis skos:exactMatch OMIM:600457 hypertrichosis, anterior cervical semapv:UnspecifiedMatching MONDO:0010887 isolated anterior cervical hypertrichosis skos:exactMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:UnspecifiedMatching MONDO:0010887 isolated anterior cervical hypertrichosis skos:exactMatch SCTID:717963001 semapv:UnspecifiedMatching MONDO:0010887 isolated anterior cervical hypertrichosis skos:exactMatch UMLS:C1838123 semapv:UnspecifiedMatching MONDO:0010887 isolated anterior cervical hypertrichosis skos:exactMatch mesh:C538390 semapv:UnspecifiedMatching MONDO:0010888 adenomyosis skos:exactMatch DOID:288 endometriosis of uterus semapv:UnspecifiedMatching MONDO:0010888 adenomyosis skos:exactMatch ICD10CM:N80.0 Endometriosis of uterus semapv:UnspecifiedMatching MONDO:0010888 adenomyosis skos:exactMatch NCIT:C6996 Uterine Corpus Adenomyosis semapv:UnspecifiedMatching MONDO:0010888 adenomyosis skos:exactMatch OMIM:600458 adenomyosis semapv:UnspecifiedMatching MONDO:0010888 adenomyosis skos:exactMatch SCTID:237115002 semapv:UnspecifiedMatching MONDO:0010888 adenomyosis skos:exactMatch UMLS:C5574708 semapv:UnspecifiedMatching MONDO:0010888 adenomyosis skos:exactMatch mesh:D062788 semapv:UnspecifiedMatching MONDO:0010889 arterial dissection-lentiginosis syndrome skos:exactMatch OMIM:600459 arterial dissection with lentiginosis semapv:UnspecifiedMatching MONDO:0010889 arterial dissection-lentiginosis syndrome skos:exactMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:UnspecifiedMatching MONDO:0010889 arterial dissection-lentiginosis syndrome skos:exactMatch UMLS:C1838122 semapv:UnspecifiedMatching MONDO:0010889 arterial dissection-lentiginosis syndrome skos:exactMatch mesh:C563937 semapv:UnspecifiedMatching MONDO:0010890 acrocardiofacial syndrome skos:exactMatch DOID:0070419 acrocardiofacial syndrome semapv:UnspecifiedMatching MONDO:0010890 acrocardiofacial syndrome skos:exactMatch OMIM:600460 cleft palate, cardiac defect, genital anomalies, and ectrodactyly semapv:UnspecifiedMatching MONDO:0010890 acrocardiofacial syndrome skos:exactMatch Orphanet:2008 Acrocardiofacial syndrome semapv:UnspecifiedMatching MONDO:0010890 acrocardiofacial syndrome skos:exactMatch UMLS:C1838121 semapv:UnspecifiedMatching MONDO:0010890 acrocardiofacial syndrome skos:exactMatch mesh:C563936 semapv:UnspecifiedMatching MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:exactMatch OMIM:600461 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities semapv:UnspecifiedMatching MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:exactMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:UnspecifiedMatching MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:exactMatch UMLS:C1838120 semapv:UnspecifiedMatching MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:exactMatch mesh:C563935 semapv:UnspecifiedMatching MONDO:0010893 malignant hyperthermia, susceptibility to, 4 skos:exactMatch OMIM:600467 malignant hyperthermia, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0010893 malignant hyperthermia, susceptibility to, 4 skos:exactMatch mesh:C535697 semapv:UnspecifiedMatching MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch DOID:0111102 maturity-onset diabetes of the young type 3 semapv:UnspecifiedMatching MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch NCIT:C129742 Hepatocyte Nuclear Factor 1-Alpha-Associated Monogenic Diabetes semapv:UnspecifiedMatching MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch OMIM:600496 maturity-onset diabetes of the young, iia 3 semapv:UnspecifiedMatching MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch SCTID:609570008 semapv:UnspecifiedMatching MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch UMLS:C1838100 semapv:UnspecifiedMatching MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch mesh:C563933 semapv:UnspecifiedMatching MONDO:0010895 ABCD syndrome skos:exactMatch DOID:0050600 ABCD syndrome semapv:UnspecifiedMatching MONDO:0010895 ABCD syndrome skos:exactMatch OMIM:600501 abcd syndrome semapv:UnspecifiedMatching MONDO:0010895 ABCD syndrome skos:exactMatch UMLS:C1838099 semapv:UnspecifiedMatching MONDO:0010895 ABCD syndrome skos:exactMatch mesh:C535334 semapv:UnspecifiedMatching MONDO:0010896 pigment dispersion syndrome skos:exactMatch DOID:0060680 pigment dispersion syndrome semapv:UnspecifiedMatching MONDO:0010896 pigment dispersion syndrome skos:exactMatch NCIT:C187288 Pigment Dispersion Syndrome semapv:UnspecifiedMatching MONDO:0010896 pigment dispersion syndrome skos:exactMatch OMIM:600510 ocular pigment dispersion with or without glaucoma semapv:UnspecifiedMatching MONDO:0010896 pigment dispersion syndrome skos:exactMatch SCTID:392133001 semapv:UnspecifiedMatching MONDO:0010896 pigment dispersion syndrome skos:exactMatch UMLS:C1271398 semapv:UnspecifiedMatching MONDO:0010896 pigment dispersion syndrome skos:exactMatch mesh:C563184 semapv:UnspecifiedMatching MONDO:0010897 schizophrenia 3 skos:exactMatch DOID:0070079 schizophrenia 3 semapv:UnspecifiedMatching MONDO:0010897 schizophrenia 3 skos:exactMatch OMIM:600511 schizophrenia 3 semapv:UnspecifiedMatching MONDO:0010897 schizophrenia 3 skos:exactMatch UMLS:C1838069 semapv:UnspecifiedMatching MONDO:0010898 autosomal dominant epilepsy with auditory features skos:exactMatch DOID:0060748 familial temporal lobe epilepsy 1 semapv:UnspecifiedMatching MONDO:0010898 autosomal dominant epilepsy with auditory features skos:exactMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:UnspecifiedMatching MONDO:0010898 autosomal dominant epilepsy with auditory features skos:exactMatch UMLS:C1838062 semapv:UnspecifiedMatching MONDO:0010898 autosomal dominant epilepsy with auditory features skos:exactMatch mesh:C537297 semapv:UnspecifiedMatching MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:exactMatch DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 semapv:UnspecifiedMatching MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:exactMatch OMIM:600513 epilepsy, nocturnal frontal lobe, 1 semapv:UnspecifiedMatching MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:exactMatch UMLS:C1838049 semapv:UnspecifiedMatching MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:exactMatch mesh:C563930 semapv:UnspecifiedMatching MONDO:0010900 intrauterine growth retardation with increased mitomycin c sensitivity skos:exactMatch OMIM:600546 intrauterine growth retardation with increased mitomycin c sensitivity semapv:UnspecifiedMatching MONDO:0010900 intrauterine growth retardation with increased mitomycin c sensitivity skos:exactMatch mesh:C536744 semapv:UnspecifiedMatching MONDO:0010901 HEC syndrome skos:exactMatch OMIM:600559 hydrocephalus, endocardial fibroelastosis, and cataracts semapv:UnspecifiedMatching MONDO:0010901 HEC syndrome skos:exactMatch Orphanet:2119 HEC syndrome semapv:UnspecifiedMatching MONDO:0010901 HEC syndrome skos:exactMatch SCTID:721015008 semapv:UnspecifiedMatching MONDO:0010901 HEC syndrome skos:exactMatch UMLS:C1833607 semapv:UnspecifiedMatching MONDO:0010901 HEC syndrome skos:exactMatch mesh:C535855 semapv:UnspecifiedMatching MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:exactMatch OMIM:600561 spondyloepiphyseal dysplasia with atlantoaxial instability semapv:UnspecifiedMatching MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:exactMatch Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type semapv:UnspecifiedMatching MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:exactMatch SCTID:718764004 semapv:UnspecifiedMatching MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:exactMatch UMLS:C1833603 semapv:UnspecifiedMatching MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:exactMatch mesh:C563472 semapv:UnspecifiedMatching MONDO:0010903 craniosynostosis, Adelaide type skos:exactMatch OMIM:600593 craniosynostosis, adelaide iia semapv:UnspecifiedMatching MONDO:0010903 craniosynostosis, Adelaide type skos:exactMatch UMLS:C1833578 semapv:UnspecifiedMatching MONDO:0010903 craniosynostosis, Adelaide type skos:exactMatch mesh:C563471 semapv:UnspecifiedMatching MONDO:0010904 setting-Sun phenomenon, familial benign skos:exactMatch OMIM:600598 setting-sun phenomenon, familial benign semapv:UnspecifiedMatching MONDO:0010904 setting-Sun phenomenon, familial benign skos:exactMatch UMLS:C1833577 semapv:UnspecifiedMatching MONDO:0010904 setting-Sun phenomenon, familial benign skos:exactMatch mesh:C563470 semapv:UnspecifiedMatching MONDO:0010905 cone-rod dystrophy 1 skos:exactMatch DOID:0111009 cone-rod dystrophy 1 semapv:UnspecifiedMatching MONDO:0010905 cone-rod dystrophy 1 skos:exactMatch OMIM:600624 cone-rod dystrophy 1 semapv:UnspecifiedMatching MONDO:0010905 cone-rod dystrophy 1 skos:exactMatch UMLS:C1833564 semapv:UnspecifiedMatching MONDO:0010905 cone-rod dystrophy 1 skos:exactMatch mesh:C563469 semapv:UnspecifiedMatching MONDO:0010906 orofacial cleft 11 skos:exactMatch DOID:0080404 orofacial cleft 11 semapv:UnspecifiedMatching MONDO:0010906 orofacial cleft 11 skos:exactMatch OMIM:600625 orofacial cleft 11 semapv:UnspecifiedMatching MONDO:0010906 orofacial cleft 11 skos:exactMatch UMLS:C2677434 semapv:UnspecifiedMatching MONDO:0010907 familial hypertryptophanemia skos:exactMatch DOID:0111703 familial hypertryptophanemia semapv:UnspecifiedMatching MONDO:0010907 familial hypertryptophanemia skos:exactMatch OMIM:600627 hypertryptophanemia semapv:UnspecifiedMatching MONDO:0010907 familial hypertryptophanemia skos:exactMatch Orphanet:2224 Hypertryptophanemia semapv:UnspecifiedMatching MONDO:0010907 familial hypertryptophanemia skos:exactMatch SCTID:721838005 semapv:UnspecifiedMatching MONDO:0010907 familial hypertryptophanemia skos:exactMatch UMLS:C2931837 semapv:UnspecifiedMatching MONDO:0010907 familial hypertryptophanemia skos:exactMatch mesh:C538393 semapv:UnspecifiedMatching MONDO:0010908 loose anagen syndrome skos:exactMatch DOID:0111702 loose anagen hair syndrome semapv:UnspecifiedMatching MONDO:0010908 loose anagen syndrome skos:exactMatch OMIM:600628 loose anagen hair syndrome semapv:UnspecifiedMatching MONDO:0010908 loose anagen syndrome skos:exactMatch Orphanet:168 Loose anagen syndrome semapv:UnspecifiedMatching MONDO:0010908 loose anagen syndrome skos:exactMatch SCTID:238735005 semapv:UnspecifiedMatching MONDO:0010908 loose anagen syndrome skos:exactMatch UMLS:C0406468 semapv:UnspecifiedMatching MONDO:0010908 loose anagen syndrome skos:exactMatch mesh:D058247 semapv:UnspecifiedMatching MONDO:0010909 UV-sensitive syndrome 1 skos:exactMatch NCIT:C173106 UV-Sensitive Syndrome 1 semapv:UnspecifiedMatching MONDO:0010909 UV-sensitive syndrome 1 skos:exactMatch OMIM:600630 uv-sensitive syndrome 1 semapv:UnspecifiedMatching MONDO:0010909 UV-sensitive syndrome 1 skos:exactMatch UMLS:C3551173 semapv:UnspecifiedMatching MONDO:0010910 enuresis, nocturnal, 1 skos:exactMatch OMIM:600631 enuresis, nocturnal, 1 semapv:UnspecifiedMatching MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch DOID:5394 prolactinoma semapv:UnspecifiedMatching MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch NCIT:C3342 Lactotroph Pituitary Neuroendocrine Tumor semapv:UnspecifiedMatching MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch Orphanet:2965 Prolactinoma semapv:UnspecifiedMatching MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch SCTID:134209002 semapv:UnspecifiedMatching MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch UMLS:C0033375 semapv:UnspecifiedMatching MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch mesh:D015175 semapv:UnspecifiedMatching MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:exactMatch DOID:0081017 congenital fibrosis of the extraocular muscles 3A semapv:UnspecifiedMatching MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:exactMatch OMIM:600638 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement semapv:UnspecifiedMatching MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:exactMatch UMLS:C2748801 semapv:UnspecifiedMatching MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:exactMatch mesh:C567572 semapv:UnspecifiedMatching MONDO:0010913 Caroli disease skos:exactMatch DOID:0050876 Caroli disease semapv:UnspecifiedMatching MONDO:0010913 Caroli disease skos:exactMatch NCIT:C84619 Caroli Disease semapv:UnspecifiedMatching MONDO:0010913 Caroli disease skos:exactMatch OMIM:600643 caroli disease, isolated semapv:UnspecifiedMatching MONDO:0010913 Caroli disease skos:exactMatch Orphanet:53035 Caroli disease semapv:UnspecifiedMatching MONDO:0010913 Caroli disease skos:exactMatch SCTID:717232005 semapv:UnspecifiedMatching MONDO:0010913 Caroli disease skos:exactMatch UMLS:C0162510 semapv:UnspecifiedMatching MONDO:0010913 Caroli disease skos:exactMatch mesh:D016767 semapv:UnspecifiedMatching MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:exactMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:UnspecifiedMatching MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:exactMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:UnspecifiedMatching MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:exactMatch UMLS:C1833511 semapv:UnspecifiedMatching MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:exactMatch mesh:C563462 semapv:UnspecifiedMatching MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:exactMatch DOID:0110573 autosomal dominant nonsyndromic deafness 4A semapv:UnspecifiedMatching MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:exactMatch OMIM:600652 deafness, autosomal dominant 4a semapv:UnspecifiedMatching MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:exactMatch UMLS:C1833503 semapv:UnspecifiedMatching MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:exactMatch mesh:C563460 semapv:UnspecifiedMatching MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease skos:exactMatch DOID:0110860 polycystic kidney disease 3 semapv:UnspecifiedMatching MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease skos:exactMatch OMIM:600666 polycystic kidney disease 3 with or without polycystic liver disease semapv:UnspecifiedMatching MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease skos:exactMatch UMLS:C3887964 semapv:UnspecifiedMatching MONDO:0010917 chondrocalcinosis 1 skos:exactMatch OMIM:600668 chondrocalcinosis 1 semapv:UnspecifiedMatching MONDO:0010917 chondrocalcinosis 1 skos:exactMatch mesh:C535938 semapv:UnspecifiedMatching MONDO:0010918 epilepsy, idiopathic generalized, susceptibility to, 1 skos:exactMatch SCTID:36803009 semapv:UnspecifiedMatching MONDO:0010919 varicella, severe recurrent skos:exactMatch OMIM:600670 varicella, severe recurrent semapv:UnspecifiedMatching MONDO:0010919 varicella, severe recurrent skos:exactMatch UMLS:C1833487 semapv:UnspecifiedMatching MONDO:0010919 varicella, severe recurrent skos:exactMatch mesh:C563458 semapv:UnspecifiedMatching MONDO:0010920 microtia skos:exactMatch ICD10CM:Q17.2 Microtia semapv:UnspecifiedMatching MONDO:0010920 microtia skos:exactMatch OMIM:600674 microtia-anotia semapv:UnspecifiedMatching MONDO:0010920 microtia skos:exactMatch Orphanet:83463 Microtia semapv:UnspecifiedMatching MONDO:0010920 microtia skos:exactMatch SCTID:35045004 semapv:UnspecifiedMatching MONDO:0010920 microtia skos:exactMatch mesh:D065817 semapv:UnspecifiedMatching MONDO:0010921 nasal dermoid cyst skos:exactMatch OMIM:600679 dermoid cysts, familial frontonasal semapv:UnspecifiedMatching MONDO:0010921 nasal dermoid cyst skos:exactMatch Orphanet:141103 Nasal dermoid cyst semapv:UnspecifiedMatching MONDO:0010921 nasal dermoid cyst skos:exactMatch UMLS:C1833473 semapv:UnspecifiedMatching MONDO:0010921 nasal dermoid cyst skos:exactMatch mesh:C563455 semapv:UnspecifiedMatching MONDO:0010922 Satoyoshi syndrome skos:exactMatch OMIM:600705 satoyoshi syndrome semapv:UnspecifiedMatching MONDO:0010922 Satoyoshi syndrome skos:exactMatch Orphanet:3130 Satoyoshi syndrome semapv:UnspecifiedMatching MONDO:0010922 Satoyoshi syndrome skos:exactMatch SCTID:763630007 semapv:UnspecifiedMatching MONDO:0010922 Satoyoshi syndrome skos:exactMatch UMLS:C1833454 semapv:UnspecifiedMatching MONDO:0010922 Satoyoshi syndrome skos:exactMatch mesh:C536616 semapv:UnspecifiedMatching MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:exactMatch OMIM:600706 proximal myopathy with focal depletion of mitochondria semapv:UnspecifiedMatching MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:exactMatch Orphanet:521305 Proximal myopathy with focal depletion of mitochondria semapv:UnspecifiedMatching MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:exactMatch UMLS:C1833453 semapv:UnspecifiedMatching MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:exactMatch mesh:C563453 semapv:UnspecifiedMatching MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch DOID:0050575 D-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch OMIMPS:600721 semapv:UnspecifiedMatching MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch SCTID:237960000 semapv:UnspecifiedMatching MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch UMLS:C1833429 semapv:UnspecifiedMatching MONDO:0010925 velo-facial-skeletal syndrome skos:exactMatch OMIM:600736 velofacioskeletal syndrome semapv:UnspecifiedMatching MONDO:0010925 velo-facial-skeletal syndrome skos:exactMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:UnspecifiedMatching MONDO:0010925 velo-facial-skeletal syndrome skos:exactMatch SCTID:763616002 semapv:UnspecifiedMatching MONDO:0010925 velo-facial-skeletal syndrome skos:exactMatch UMLS:C1833380 semapv:UnspecifiedMatching MONDO:0010925 velo-facial-skeletal syndrome skos:exactMatch mesh:C536536 semapv:UnspecifiedMatching MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:exactMatch DOID:0060702 familial hypocalciuric hypercalcemia 3 semapv:UnspecifiedMatching MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:exactMatch OMIM:600740 hypocalciuric hypercalcemia, familial, iia 3 semapv:UnspecifiedMatching MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:exactMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:UnspecifiedMatching MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:exactMatch UMLS:C1833372 semapv:UnspecifiedMatching MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:exactMatch mesh:C537147 semapv:UnspecifiedMatching MONDO:0010927 orofacial cleft 3 skos:exactMatch DOID:0080397 orofacial cleft 3 semapv:UnspecifiedMatching MONDO:0010927 orofacial cleft 3 skos:exactMatch OMIM:600757 orofacial cleft 3 semapv:UnspecifiedMatching MONDO:0010927 orofacial cleft 3 skos:exactMatch UMLS:C1833369 semapv:UnspecifiedMatching MONDO:0010927 orofacial cleft 3 skos:exactMatch mesh:C563448 semapv:UnspecifiedMatching MONDO:0010928 dwarfism, familial, with muscle spasms skos:exactMatch OMIM:600771 dwarfism, familial, with muscle spasms semapv:UnspecifiedMatching MONDO:0010928 dwarfism, familial, with muscle spasms skos:exactMatch UMLS:C1833341 semapv:UnspecifiedMatching MONDO:0010928 dwarfism, familial, with muscle spasms skos:exactMatch mesh:C563447 semapv:UnspecifiedMatching MONDO:0010929 craniosynostosis 4 skos:exactMatch OMIM:600775 craniosynostosis 4 semapv:UnspecifiedMatching MONDO:0010929 craniosynostosis 4 skos:exactMatch UMLS:C1833340 semapv:UnspecifiedMatching MONDO:0010930 anophthalmia plus syndrome skos:exactMatch OMIM:600776 fryns microphthalmia syndrome semapv:UnspecifiedMatching MONDO:0010930 anophthalmia plus syndrome skos:exactMatch Orphanet:1104 Anophthalmia plus syndrome semapv:UnspecifiedMatching MONDO:0010930 anophthalmia plus syndrome skos:exactMatch SCTID:720496006 semapv:UnspecifiedMatching MONDO:0010930 anophthalmia plus syndrome skos:exactMatch UMLS:C1833339 semapv:UnspecifiedMatching MONDO:0010930 anophthalmia plus syndrome skos:exactMatch mesh:C537767 semapv:UnspecifiedMatching MONDO:0010931 vitamin D-dependent rickets, type 2B skos:exactMatch DOID:0080885 vitamin D-dependent rickets type 2B semapv:UnspecifiedMatching MONDO:0010931 vitamin D-dependent rickets, type 2B skos:exactMatch NCIT:C131076 Vitamin D Dependent Rickets 2b semapv:UnspecifiedMatching MONDO:0010931 vitamin D-dependent rickets, type 2B skos:exactMatch OMIM:600785 vitamin d-dependent rickets, iia 2b, with normal vitamin d receptor semapv:UnspecifiedMatching MONDO:0010931 vitamin D-dependent rickets, type 2B skos:exactMatch SCTID:237895001 semapv:UnspecifiedMatching MONDO:0010931 vitamin D-dependent rickets, type 2B skos:exactMatch UMLS:C2748783 semapv:UnspecifiedMatching MONDO:0010932 progressive bifocal chorioretinal atrophy skos:exactMatch OMIM:600790 chorioretinal atrophy, progressive bifocal semapv:UnspecifiedMatching MONDO:0010932 progressive bifocal chorioretinal atrophy skos:exactMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:UnspecifiedMatching MONDO:0010932 progressive bifocal chorioretinal atrophy skos:exactMatch SCTID:719266007 semapv:UnspecifiedMatching MONDO:0010932 progressive bifocal chorioretinal atrophy skos:exactMatch UMLS:C1833321 semapv:UnspecifiedMatching MONDO:0010932 progressive bifocal chorioretinal atrophy skos:exactMatch mesh:C535356 semapv:UnspecifiedMatching MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:exactMatch DOID:0110498 autosomal recessive nonsyndromic deafness 4 semapv:UnspecifiedMatching MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:exactMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:UnspecifiedMatching MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:exactMatch mesh:C566366 semapv:UnspecifiedMatching MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch DOID:0111227 chromosome 3-linked frontotemporal dementia semapv:UnspecifiedMatching MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch OMIM:600795 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 semapv:UnspecifiedMatching MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch SCTID:702393003 semapv:UnspecifiedMatching MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch UMLS:C1833296 semapv:UnspecifiedMatching MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch mesh:C563708 semapv:UnspecifiedMatching MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch mesh:C579991 semapv:UnspecifiedMatching MONDO:0010937 isoproterenol-mediated vasodilatation skos:exactMatch OMIM:600801 isoproterenol-mediated vasodilatation semapv:UnspecifiedMatching MONDO:0010937 isoproterenol-mediated vasodilatation skos:exactMatch UMLS:C1833276 semapv:UnspecifiedMatching MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:exactMatch OMIM:600802 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative semapv:UnspecifiedMatching MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:exactMatch Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency semapv:UnspecifiedMatching MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:exactMatch SCTID:718107000 semapv:UnspecifiedMatching MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:exactMatch UMLS:C1833275 semapv:UnspecifiedMatching MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:exactMatch mesh:C563440 semapv:UnspecifiedMatching MONDO:0010939 low phospholipid associated cholelithiasis skos:exactMatch OMIM:600803 gallbladder disease 1 semapv:UnspecifiedMatching MONDO:0010939 low phospholipid associated cholelithiasis skos:exactMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:UnspecifiedMatching MONDO:0010939 low phospholipid associated cholelithiasis skos:exactMatch SCTID:715577009 semapv:UnspecifiedMatching MONDO:0010939 low phospholipid associated cholelithiasis skos:exactMatch UMLS:C2609268 semapv:UnspecifiedMatching MONDO:0010940 inherited susceptibility to asthma skos:exactMatch OMIM:600807 asthma, susceptibility to semapv:UnspecifiedMatching MONDO:0010941 nocturnal enuresis, 2 skos:exactMatch OMIM:600808 enuresis, nocturnal, 2 semapv:UnspecifiedMatching MONDO:0010941 nocturnal enuresis, 2 skos:exactMatch UMLS:C1833268 semapv:UnspecifiedMatching MONDO:0010941 nocturnal enuresis, 2 skos:exactMatch mesh:C563439 semapv:UnspecifiedMatching MONDO:0010942 obsolete eukaryotic translation elongation factor 1 alpha-1-like 14 skos:exactMatch OMIM:600841 eukaryotic translation elongation factor 1 alpha-1-like 14 semapv:UnspecifiedMatching MONDO:0010943 schizophrenia 4 skos:exactMatch DOID:0070080 schizophrenia 4 semapv:UnspecifiedMatching MONDO:0010943 schizophrenia 4 skos:exactMatch OMIM:600850 schizophrenia 4 semapv:UnspecifiedMatching MONDO:0010943 schizophrenia 4 skos:exactMatch UMLS:C1833247 semapv:UnspecifiedMatching MONDO:0010944 mitochondrial import-stimulating factor skos:exactMatch OMIM:600851 mitochondrial import-stimulating factor semapv:UnspecifiedMatching MONDO:0010945 retinitis pigmentosa 17 skos:exactMatch DOID:0110404 retinitis pigmentosa 17 semapv:UnspecifiedMatching MONDO:0010945 retinitis pigmentosa 17 skos:exactMatch OMIM:600852 retinitis pigmentosa 17 semapv:UnspecifiedMatching MONDO:0010945 retinitis pigmentosa 17 skos:exactMatch UMLS:C1833245 semapv:UnspecifiedMatching MONDO:0010945 retinitis pigmentosa 17 skos:exactMatch mesh:C563437 semapv:UnspecifiedMatching MONDO:0010946 hypertrophic cardiomyopathy 6 skos:exactMatch DOID:0110312 hypertrophic cardiomyopathy 6 semapv:UnspecifiedMatching MONDO:0010946 hypertrophic cardiomyopathy 6 skos:exactMatch OMIM:600858 cardiomyopathy, familial hypertrophic, 6 semapv:UnspecifiedMatching MONDO:0010946 hypertrophic cardiomyopathy 6 skos:exactMatch UMLS:C1833236 semapv:UnspecifiedMatching MONDO:0010946 hypertrophic cardiomyopathy 6 skos:exactMatch mesh:C563436 semapv:UnspecifiedMatching MONDO:0010947 Budd-Chiari syndrome skos:exactMatch ICD10CM:I82.0 Budd-Chiari syndrome semapv:UnspecifiedMatching MONDO:0010947 Budd-Chiari syndrome skos:exactMatch OMIM:600880 budd-chiari syndrome semapv:UnspecifiedMatching MONDO:0010947 Budd-Chiari syndrome skos:exactMatch Orphanet:131 Budd-Chiari syndrome semapv:UnspecifiedMatching MONDO:0010947 Budd-Chiari syndrome skos:exactMatch SCTID:82385007 semapv:UnspecifiedMatching MONDO:0010947 Budd-Chiari syndrome skos:exactMatch UMLS:C0856761 semapv:UnspecifiedMatching MONDO:0010947 Budd-Chiari syndrome skos:exactMatch mesh:D006502 semapv:UnspecifiedMatching MONDO:0010948 cataract 10 multiple types skos:exactMatch DOID:0110258 cataract 10 multiple types semapv:UnspecifiedMatching MONDO:0010948 cataract 10 multiple types skos:exactMatch OMIM:600881 cataract 10, multiple types semapv:UnspecifiedMatching MONDO:0010948 cataract 10 multiple types skos:exactMatch UMLS:C1833229 semapv:UnspecifiedMatching MONDO:0010948 cataract 10 multiple types skos:exactMatch mesh:C563435 semapv:UnspecifiedMatching MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:exactMatch DOID:0110159 Charcot-Marie-Tooth disease type 2B semapv:UnspecifiedMatching MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:exactMatch OMIM:600882 charcot-marie-tooth disease, axonal, iia 2b semapv:UnspecifiedMatching MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:exactMatch Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:UnspecifiedMatching MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:exactMatch SCTID:717008005 semapv:UnspecifiedMatching MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:exactMatch UMLS:C1833219 semapv:UnspecifiedMatching MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:exactMatch mesh:C537989 semapv:UnspecifiedMatching MONDO:0010950 type 1 diabetes mellitus 8 skos:exactMatch DOID:0110747 type 1 diabetes mellitus 8 semapv:UnspecifiedMatching MONDO:0010950 type 1 diabetes mellitus 8 skos:exactMatch OMIM:600883 iia 1 diabetes mellitus 8 semapv:UnspecifiedMatching MONDO:0010950 type 1 diabetes mellitus 8 skos:exactMatch UMLS:C1833218 semapv:UnspecifiedMatching MONDO:0010950 type 1 diabetes mellitus 8 skos:exactMatch mesh:C563433 semapv:UnspecifiedMatching MONDO:0010951 dilated cardiomyopathy 1B skos:exactMatch DOID:0110443 dilated cardiomyopathy 1B semapv:UnspecifiedMatching MONDO:0010951 dilated cardiomyopathy 1B skos:exactMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:UnspecifiedMatching MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:exactMatch DOID:0111256 hyperferritinemia-cataract syndrome semapv:UnspecifiedMatching MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:exactMatch OMIM:600886 hyperferritinemia with or without cataract semapv:UnspecifiedMatching MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:exactMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:UnspecifiedMatching MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:exactMatch SCTID:702398007 semapv:UnspecifiedMatching MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:exactMatch UMLS:C1833213 semapv:UnspecifiedMatching MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:exactMatch mesh:C538137 semapv:UnspecifiedMatching MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch DOID:0111084 Fanconi anemia complementation group E semapv:UnspecifiedMatching MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch NCIT:C125709 Fanconi Anemia, Complementation Group E semapv:UnspecifiedMatching MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch OMIM:600901 fanconi anemia, complementation group e semapv:UnspecifiedMatching MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch UMLS:C3160739 semapv:UnspecifiedMatching MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form skos:exactMatch OMIM:600903 wiskott-aldrich syndrome, autosomal dominant semapv:UnspecifiedMatching MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form skos:exactMatch UMLS:C5542398 semapv:UnspecifiedMatching MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form skos:exactMatch mesh:C563431 semapv:UnspecifiedMatching MONDO:0010955 ectodermal dysplasia with intellectual disability and syndactyly skos:exactMatch OMIM:600906 ectodermal dysplasia with mental retardation and syndactyly semapv:UnspecifiedMatching MONDO:0010955 ectodermal dysplasia with intellectual disability and syndactyly skos:exactMatch UMLS:C1833169 semapv:UnspecifiedMatching MONDO:0010955 ectodermal dysplasia with intellectual disability and syndactyly skos:exactMatch mesh:C538018 semapv:UnspecifiedMatching MONDO:0010956 enamel hypoplasia, cataracts, and aqueductal stenosis skos:exactMatch OMIM:600907 enamel hypoplasia, cataracts, and aqueductal stenosis semapv:UnspecifiedMatching MONDO:0010956 enamel hypoplasia, cataracts, and aqueductal stenosis skos:exactMatch UMLS:C1833163 semapv:UnspecifiedMatching MONDO:0010956 enamel hypoplasia, cataracts, and aqueductal stenosis skos:exactMatch mesh:C563430 semapv:UnspecifiedMatching MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:exactMatch DOID:0111700 ankyrin-B-related cardiac arrhythmia semapv:UnspecifiedMatching MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:exactMatch DOID:0111701 long QT syndrome 4 semapv:UnspecifiedMatching MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:exactMatch OMIM:600919 cardiac arrhythmia, ankyrin-b-related semapv:UnspecifiedMatching MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:exactMatch SCTID:764457005 semapv:UnspecifiedMatching MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:exactMatch UMLS:C1970119 semapv:UnspecifiedMatching MONDO:0010959 van den Ende-Gupta syndrome skos:exactMatch DOID:0111699 Van den Ende-Gupta syndrome semapv:UnspecifiedMatching MONDO:0010959 van den Ende-Gupta syndrome skos:exactMatch OMIM:600920 van den ende-gupta syndrome semapv:UnspecifiedMatching MONDO:0010959 van den Ende-Gupta syndrome skos:exactMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:UnspecifiedMatching MONDO:0010959 van den Ende-Gupta syndrome skos:exactMatch SCTID:719845008 semapv:UnspecifiedMatching MONDO:0010959 van den Ende-Gupta syndrome skos:exactMatch UMLS:C1833136 semapv:UnspecifiedMatching MONDO:0010959 van den Ende-Gupta syndrome skos:exactMatch mesh:C535909 semapv:UnspecifiedMatching MONDO:0010960 protocadherin 3 skos:exactMatch OMIM:600931 protocadherin 3 semapv:UnspecifiedMatching MONDO:0010961 obesity due to prohormone convertase I deficiency skos:exactMatch DOID:0111698 proprotein convertase 1/3 deficiency semapv:UnspecifiedMatching MONDO:0010961 obesity due to prohormone convertase I deficiency skos:exactMatch OMIM:600955 proprotein convertase 1/3 deficiency semapv:UnspecifiedMatching MONDO:0010961 obesity due to prohormone convertase I deficiency skos:exactMatch Orphanet:71528 Obesity due to prohormone convertase I deficiency semapv:UnspecifiedMatching MONDO:0010961 obesity due to prohormone convertase I deficiency skos:exactMatch SCTID:722053001 semapv:UnspecifiedMatching MONDO:0010961 obesity due to prohormone convertase I deficiency skos:exactMatch UMLS:C1833053 semapv:UnspecifiedMatching MONDO:0010961 obesity due to prohormone convertase I deficiency skos:exactMatch mesh:C563423 semapv:UnspecifiedMatching MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch DOID:0050428 nonepidermolytic palmoplantar keratoderma semapv:UnspecifiedMatching MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch OMIM:600962 palmoplantar keratoderma, nonepidermolytic semapv:UnspecifiedMatching MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma semapv:UnspecifiedMatching MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch SCTID:716105001 semapv:UnspecifiedMatching MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:exactMatch DOID:0110584 autosomal dominant nonsyndromic deafness 6 semapv:UnspecifiedMatching MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:exactMatch OMIM:600965 deafness, autosomal dominant 6 semapv:UnspecifiedMatching MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:exactMatch UMLS:C1833021 semapv:UnspecifiedMatching MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:exactMatch mesh:C563421 semapv:UnspecifiedMatching MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:exactMatch DOID:0070304 multiple epiphyseal dysplasia 3 semapv:UnspecifiedMatching MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:exactMatch OMIM:600969 epiphyseal dysplasia, multiple, 3 semapv:UnspecifiedMatching MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:exactMatch UMLS:C1832998 semapv:UnspecifiedMatching MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:exactMatch mesh:C535503 semapv:UnspecifiedMatching MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:exactMatch DOID:0110512 autosomal recessive nonsyndromic deafness 6 semapv:UnspecifiedMatching MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:exactMatch OMIM:600971 deafness, autosomal recessive 6 semapv:UnspecifiedMatching MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:exactMatch UMLS:C1832992 semapv:UnspecifiedMatching MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:exactMatch mesh:C563418 semapv:UnspecifiedMatching MONDO:0010966 achondrogenesis type IB skos:exactMatch DOID:0080055 achondrogenesis type IB semapv:UnspecifiedMatching MONDO:0010966 achondrogenesis type IB skos:exactMatch OMIM:600972 achondrogenesis, iia 1b semapv:UnspecifiedMatching MONDO:0010966 achondrogenesis type IB skos:exactMatch Orphanet:93298 Achondrogenesis type 1B semapv:UnspecifiedMatching MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:exactMatch DOID:0110520 autosomal recessive nonsyndromic deafness 7 semapv:UnspecifiedMatching MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:exactMatch OMIM:600974 deafness, autosomal recessive 7 semapv:UnspecifiedMatching MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:exactMatch UMLS:C1832978 semapv:UnspecifiedMatching MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:exactMatch mesh:C563417 semapv:UnspecifiedMatching MONDO:0010968 glaucoma 3, primary infantile, B skos:exactMatch OMIM:600975 glaucoma 3, primary infantile, B semapv:UnspecifiedMatching MONDO:0010968 glaucoma 3, primary infantile, B skos:exactMatch UMLS:C1832977 semapv:UnspecifiedMatching MONDO:0010968 glaucoma 3, primary infantile, B skos:exactMatch mesh:C536824 semapv:UnspecifiedMatching MONDO:0010969 cone-rod dystrophy 5 skos:exactMatch DOID:0111010 cone-rod dystrophy 5 semapv:UnspecifiedMatching MONDO:0010969 cone-rod dystrophy 5 skos:exactMatch OMIM:600977 cone-rod dystrophy 5 semapv:UnspecifiedMatching MONDO:0010969 cone-rod dystrophy 5 skos:exactMatch UMLS:C1832976 semapv:UnspecifiedMatching MONDO:0010969 cone-rod dystrophy 5 skos:exactMatch mesh:C563415 semapv:UnspecifiedMatching MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:exactMatch DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity semapv:UnspecifiedMatching MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:exactMatch OMIM:600987 cleft palate, cardiac defects, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:exactMatch UMLS:C1832950 semapv:UnspecifiedMatching MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:exactMatch mesh:C563414 semapv:UnspecifiedMatching MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome skos:exactMatch OMIM:600989 infundibulopelvic dysgenesis semapv:UnspecifiedMatching MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome skos:exactMatch SCTID:725905005 semapv:UnspecifiedMatching MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome skos:exactMatch UMLS:C1832949 semapv:UnspecifiedMatching MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome skos:exactMatch mesh:C535528 semapv:UnspecifiedMatching MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:exactMatch OMIM:600991 hydrocephalus, sprengel anomaly, and costovertebral dysplasia semapv:UnspecifiedMatching MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:exactMatch Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome semapv:UnspecifiedMatching MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:exactMatch SCTID:721229003 semapv:UnspecifiedMatching MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:exactMatch mesh:C536461 semapv:UnspecifiedMatching MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:exactMatch DOID:0110575 autosomal dominant nonsyndromic deafness 5 semapv:UnspecifiedMatching MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:exactMatch OMIM:600994 deafness, autosomal dominant 5 semapv:UnspecifiedMatching MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:exactMatch UMLS:C1832932 semapv:UnspecifiedMatching MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:exactMatch mesh:C563410 semapv:UnspecifiedMatching MONDO:0010974 nephrotic syndrome, type 2 skos:exactMatch DOID:0080379 nephrotic syndrome type 2 semapv:UnspecifiedMatching MONDO:0010974 nephrotic syndrome, type 2 skos:exactMatch OMIM:600995 nephrotic syndrome, iia 2 semapv:UnspecifiedMatching MONDO:0010974 nephrotic syndrome, type 2 skos:exactMatch UMLS:C1868672 semapv:UnspecifiedMatching MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:exactMatch OMIM:601001 epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive semapv:UnspecifiedMatching MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:exactMatch Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex semapv:UnspecifiedMatching MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:exactMatch mesh:C563408 semapv:UnspecifiedMatching MONDO:0010977 Brody myopathy skos:exactMatch DOID:0050692 Brody myopathy semapv:UnspecifiedMatching MONDO:0010977 Brody myopathy skos:exactMatch OMIM:601003 brody disease semapv:UnspecifiedMatching MONDO:0010977 Brody myopathy skos:exactMatch Orphanet:53347 Brody myopathy semapv:UnspecifiedMatching MONDO:0010977 Brody myopathy skos:exactMatch SCTID:703530005 semapv:UnspecifiedMatching MONDO:0010977 Brody myopathy skos:exactMatch UMLS:C1832918 semapv:UnspecifiedMatching MONDO:0010977 Brody myopathy skos:exactMatch mesh:C536607 semapv:UnspecifiedMatching MONDO:0010978 portal vein, cavernous transformation of skos:exactMatch OMIM:601004 portal vein, cavernous transformation of semapv:UnspecifiedMatching MONDO:0010978 portal vein, cavernous transformation of skos:exactMatch UMLS:C1832917 semapv:UnspecifiedMatching MONDO:0010978 portal vein, cavernous transformation of skos:exactMatch mesh:C563407 semapv:UnspecifiedMatching MONDO:0010979 Timothy syndrome skos:exactMatch DOID:0060173 Timothy syndrome semapv:UnspecifiedMatching MONDO:0010979 Timothy syndrome skos:exactMatch NCIT:C142894 Long QT Syndrome 8 semapv:UnspecifiedMatching MONDO:0010979 Timothy syndrome skos:exactMatch OMIM:601005 timothy syndrome semapv:UnspecifiedMatching MONDO:0010979 Timothy syndrome skos:exactMatch Orphanet:65283 Timothy syndrome semapv:UnspecifiedMatching MONDO:0010979 Timothy syndrome skos:exactMatch UMLS:C1832916 semapv:UnspecifiedMatching MONDO:0010979 Timothy syndrome skos:exactMatch mesh:C536962 semapv:UnspecifiedMatching MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism skos:exactMatch OMIM:601016 midline malformations, multiple, with limb abnormalities and hypopituitarism semapv:UnspecifiedMatching MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism skos:exactMatch UMLS:C1832874 semapv:UnspecifiedMatching MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism skos:exactMatch mesh:C536177 semapv:UnspecifiedMatching MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:exactMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:UnspecifiedMatching MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:exactMatch Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome semapv:UnspecifiedMatching MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:exactMatch SCTID:733068001 semapv:UnspecifiedMatching MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:exactMatch mesh:C563403 semapv:UnspecifiedMatching MONDO:0010982 ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin skos:exactMatch OMIM:601039 ichthyosis-mental retardation syndrome with large keratohyalin granules 1n the skin semapv:UnspecifiedMatching MONDO:0010982 ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin skos:exactMatch UMLS:C1832858 semapv:UnspecifiedMatching MONDO:0010982 ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin skos:exactMatch mesh:C563402 semapv:UnspecifiedMatching MONDO:0010983 dystonia 9 skos:exactMatch DOID:0090044 dystonia 9 semapv:UnspecifiedMatching MONDO:0010983 dystonia 9 skos:exactMatch OMIM:601042 dystonia 9 semapv:UnspecifiedMatching MONDO:0010983 dystonia 9 skos:exactMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:UnspecifiedMatching MONDO:0010983 dystonia 9 skos:exactMatch SCTID:715564000 semapv:UnspecifiedMatching MONDO:0010983 dystonia 9 skos:exactMatch UMLS:C1832855 semapv:UnspecifiedMatching MONDO:0010983 dystonia 9 skos:exactMatch mesh:C563401 semapv:UnspecifiedMatching MONDO:0010984 Usher syndrome type 1D skos:exactMatch DOID:0110831 Usher syndrome type 1D semapv:UnspecifiedMatching MONDO:0010984 Usher syndrome type 1D skos:exactMatch OMIM:601067 usher syndrome, iia 1d semapv:UnspecifiedMatching MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:exactMatch DOID:0111690 familial adult myoclonic epilepsy 1 semapv:UnspecifiedMatching MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:exactMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:UnspecifiedMatching MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:exactMatch UMLS:C1832841 semapv:UnspecifiedMatching MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:exactMatch mesh:C563399 semapv:UnspecifiedMatching MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:exactMatch DOID:0110535 autosomal recessive nonsyndromic deafness 9 semapv:UnspecifiedMatching MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:exactMatch OMIM:601071 deafness, autosomal recessive 9 semapv:UnspecifiedMatching MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:exactMatch DOID:0110527 autosomal recessive nonsyndromic deafness 8 semapv:UnspecifiedMatching MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:exactMatch OMIM:601072 deafness, autosomal recessive 8 semapv:UnspecifiedMatching MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:exactMatch UMLS:C1832827 semapv:UnspecifiedMatching MONDO:0010988 aplasia cutis-myopia syndrome skos:exactMatch OMIM:601075 aplasia cutis congenita, high myopia, and cone-rod dysfunction semapv:UnspecifiedMatching MONDO:0010988 aplasia cutis-myopia syndrome skos:exactMatch Orphanet:1117 Aplasia cutis-myopia syndrome semapv:UnspecifiedMatching MONDO:0010988 aplasia cutis-myopia syndrome skos:exactMatch SCTID:720499004 semapv:UnspecifiedMatching MONDO:0010988 aplasia cutis-myopia syndrome skos:exactMatch mesh:C563394 semapv:UnspecifiedMatching MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:UnspecifiedMatching MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch OMIM:601076 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies semapv:UnspecifiedMatching MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 semapv:UnspecifiedMatching MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch SCTID:717705004 semapv:UnspecifiedMatching MONDO:0010990 obsolete Cd4/CD8 T-cell ratio skos:exactMatch OMIM:601083 cd4/cd8 t-cell ratio semapv:UnspecifiedMatching MONDO:0010991 laterality defects, autosomal dominant skos:exactMatch OMIM:601086 laterality defects, autosomal dominant semapv:UnspecifiedMatching MONDO:0010991 laterality defects, autosomal dominant skos:exactMatch UMLS:C1832813 semapv:UnspecifiedMatching MONDO:0010991 laterality defects, autosomal dominant skos:exactMatch mesh:C563391 semapv:UnspecifiedMatching MONDO:0010992 Ayme-Gripp syndrome skos:exactMatch DOID:0111688 Ayme-Gripp syndrome semapv:UnspecifiedMatching MONDO:0010992 Ayme-Gripp syndrome skos:exactMatch OMIM:601088 ayme-gripp syndrome semapv:UnspecifiedMatching MONDO:0010992 Ayme-Gripp syndrome skos:exactMatch UMLS:C1832812 semapv:UnspecifiedMatching MONDO:0010992 Ayme-Gripp syndrome skos:exactMatch mesh:C563390 semapv:UnspecifiedMatching MONDO:0010993 Harrod syndrome skos:exactMatch OMIM:601095 harrod syndrome semapv:UnspecifiedMatching MONDO:0010993 Harrod syndrome skos:exactMatch Orphanet:2115 Harrod syndrome semapv:UnspecifiedMatching MONDO:0010993 Harrod syndrome skos:exactMatch SCTID:716089008 semapv:UnspecifiedMatching MONDO:0010993 Harrod syndrome skos:exactMatch UMLS:C0795970 semapv:UnspecifiedMatching MONDO:0010993 Harrod syndrome skos:exactMatch mesh:C535635 semapv:UnspecifiedMatching MONDO:0010994 obsolete micromelic dwarfism, Fryns type skos:exactMatch OMIM:601096 spondyloepimetaphyseal dysplasia, micromelic semapv:UnspecifiedMatching MONDO:0010994 obsolete micromelic dwarfism, Fryns type skos:exactMatch Orphanet:2641 OBSOLETE: Micromelic dwarfism, Fryns type semapv:UnspecifiedMatching MONDO:0010994 obsolete micromelic dwarfism, Fryns type skos:exactMatch SCTID:715479009 semapv:UnspecifiedMatching MONDO:0010994 obsolete micromelic dwarfism, Fryns type skos:exactMatch UMLS:C1832800 semapv:UnspecifiedMatching MONDO:0010994 obsolete micromelic dwarfism, Fryns type skos:exactMatch mesh:C537556 semapv:UnspecifiedMatching MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:exactMatch DOID:0110151 Charcot-Marie-Tooth disease type 1C semapv:UnspecifiedMatching MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:exactMatch OMIM:601098 charcot-marie-tooth disease, demyelinating, iia 1c semapv:UnspecifiedMatching MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:exactMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:UnspecifiedMatching MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:exactMatch UMLS:C0270913 semapv:UnspecifiedMatching MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:exactMatch mesh:C537984 semapv:UnspecifiedMatching MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 skos:exactMatch OMIM:601101 telangiectasia, hereditary hemorrhagic, iia 3 semapv:UnspecifiedMatching MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 skos:exactMatch mesh:C537140 semapv:UnspecifiedMatching MONDO:0010997 supranuclear palsy, progressive, 1 skos:exactMatch OMIM:601104 supranuclear palsy, progressive, 1 semapv:UnspecifiedMatching MONDO:0010997 supranuclear palsy, progressive, 1 skos:exactMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:UnspecifiedMatching MONDO:0010997 supranuclear palsy, progressive, 1 skos:exactMatch UMLS:C4551863 semapv:UnspecifiedMatching MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch DOID:0080556 congenital disorder of glycosylation Id semapv:UnspecifiedMatching MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch NCIT:C126870 Congenital Disorder of Glycosylation Type Id semapv:UnspecifiedMatching MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch OMIM:601110 congenital disorder of glycosylation, iia id semapv:UnspecifiedMatching MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch Orphanet:79321 ALG3-CDG semapv:UnspecifiedMatching MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch SCTID:720976009 semapv:UnspecifiedMatching MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch UMLS:C1832736 semapv:UnspecifiedMatching MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch mesh:C535742 semapv:UnspecifiedMatching MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:exactMatch OMIM:601127 fallot complex with severe mental and growth retardation semapv:UnspecifiedMatching MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:exactMatch Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome semapv:UnspecifiedMatching MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:exactMatch SCTID:723336008 semapv:UnspecifiedMatching MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:exactMatch UMLS:C1832735 semapv:UnspecifiedMatching MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:exactMatch mesh:C536608 semapv:UnspecifiedMatching MONDO:0011000 guanylate cyclase 2E skos:exactMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:UnspecifiedMatching MONDO:0011001 Brugada syndrome 1 skos:exactMatch DOID:0110218 Brugada syndrome 1 semapv:UnspecifiedMatching MONDO:0011001 Brugada syndrome 1 skos:exactMatch OMIM:601144 brugada syndrome 1 semapv:UnspecifiedMatching MONDO:0011001 Brugada syndrome 1 skos:exactMatch UMLS:C4551804 semapv:UnspecifiedMatching MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A skos:exactMatch OMIM:601152 neuropathy, hereditary motor and sensory, iia via, with optic atrophy semapv:UnspecifiedMatching MONDO:0011003 dilated cardiomyopathy 1E skos:exactMatch DOID:0110433 dilated cardiomyopathy 1E semapv:UnspecifiedMatching MONDO:0011003 dilated cardiomyopathy 1E skos:exactMatch OMIM:601154 cardiomyopathy, dilated, 1e semapv:UnspecifiedMatching MONDO:0011003 dilated cardiomyopathy 1E skos:exactMatch UMLS:C1832680 semapv:UnspecifiedMatching MONDO:0011003 dilated cardiomyopathy 1E skos:exactMatch mesh:C563384 semapv:UnspecifiedMatching MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:exactMatch OMIM:601160 lissencephaly iia 3 and bone dysplasia semapv:UnspecifiedMatching MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:exactMatch Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome semapv:UnspecifiedMatching MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:exactMatch SCTID:718720007 semapv:UnspecifiedMatching MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:exactMatch UMLS:C1832678 semapv:UnspecifiedMatching MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:exactMatch mesh:C563383 semapv:UnspecifiedMatching MONDO:0011005 trisomy 18-like syndrome skos:exactMatch OMIM:601161 trisomy 18-like syndrome semapv:UnspecifiedMatching MONDO:0011005 trisomy 18-like syndrome skos:exactMatch UMLS:C1832677 semapv:UnspecifiedMatching MONDO:0011005 trisomy 18-like syndrome skos:exactMatch mesh:C563382 semapv:UnspecifiedMatching MONDO:0011006 hereditary spastic paraplegia 9A skos:exactMatch DOID:0110824 hereditary spastic paraplegia 9A semapv:UnspecifiedMatching MONDO:0011006 hereditary spastic paraplegia 9A skos:exactMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:UnspecifiedMatching MONDO:0011006 hereditary spastic paraplegia 9A skos:exactMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:UnspecifiedMatching MONDO:0011006 hereditary spastic paraplegia 9A skos:exactMatch UMLS:C5568978 semapv:UnspecifiedMatching MONDO:0011006 hereditary spastic paraplegia 9A skos:exactMatch mesh:C536868 semapv:UnspecifiedMatching MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:exactMatch OMIM:601163 diaphragmatic defects, limb deficiencies, and ossification defects of skull semapv:UnspecifiedMatching MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:exactMatch Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome semapv:UnspecifiedMatching MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:exactMatch SCTID:721095007 semapv:UnspecifiedMatching MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:exactMatch mesh:C563380 semapv:UnspecifiedMatching MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:exactMatch OMIM:601165 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease semapv:UnspecifiedMatching MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:exactMatch Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:UnspecifiedMatching MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:exactMatch SCTID:719456001 semapv:UnspecifiedMatching MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:exactMatch UMLS:C2931750 semapv:UnspecifiedMatching MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:exactMatch mesh:C538160 semapv:UnspecifiedMatching MONDO:0011009 muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers skos:exactMatch OMIM:601170 muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers semapv:UnspecifiedMatching MONDO:0011009 muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers skos:exactMatch UMLS:C1832665 semapv:UnspecifiedMatching MONDO:0011009 muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers skos:exactMatch mesh:C563378 semapv:UnspecifiedMatching MONDO:0011010 Matthew-Wood syndrome skos:exactMatch DOID:0111807 syndromic microphthalmia 9 semapv:UnspecifiedMatching MONDO:0011010 Matthew-Wood syndrome skos:exactMatch OMIM:601186 microphthalmia, syndromic 9 semapv:UnspecifiedMatching MONDO:0011010 Matthew-Wood syndrome skos:exactMatch Orphanet:2470 Matthew-Wood syndrome semapv:UnspecifiedMatching MONDO:0011010 Matthew-Wood syndrome skos:exactMatch SCTID:722458000 semapv:UnspecifiedMatching MONDO:0011010 Matthew-Wood syndrome skos:exactMatch UMLS:C1832661 semapv:UnspecifiedMatching MONDO:0011010 Matthew-Wood syndrome skos:exactMatch mesh:C537768 semapv:UnspecifiedMatching MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:exactMatch OMIM:601187 gurrieri syndrome semapv:UnspecifiedMatching MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:exactMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:UnspecifiedMatching MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:exactMatch SCTID:715428003 semapv:UnspecifiedMatching MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:exactMatch UMLS:C0796046 semapv:UnspecifiedMatching MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:exactMatch mesh:C537625 semapv:UnspecifiedMatching MONDO:0011012 African iron overload skos:exactMatch DOID:0111033 African iron overload semapv:UnspecifiedMatching MONDO:0011012 African iron overload skos:exactMatch OMIM:601195 iron overload 1n africa semapv:UnspecifiedMatching MONDO:0011012 African iron overload skos:exactMatch Orphanet:139507 Dietary iron overload disease semapv:UnspecifiedMatching MONDO:0011012 African iron overload skos:exactMatch SCTID:66576001 semapv:UnspecifiedMatching MONDO:0011012 African iron overload skos:exactMatch mesh:C537904 semapv:UnspecifiedMatching MONDO:0011013 autosomal dominant hypocalcemia 1 skos:exactMatch DOID:0090107 autosomal dominant hypocalcemia 1 semapv:UnspecifiedMatching MONDO:0011013 autosomal dominant hypocalcemia 1 skos:exactMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0011014 pleuropulmonary blastoma skos:exactMatch DOID:4769 pleuropulmonary blastoma semapv:UnspecifiedMatching MONDO:0011014 pleuropulmonary blastoma skos:exactMatch NCIT:C5669 Pleuropulmonary Blastoma semapv:UnspecifiedMatching MONDO:0011014 pleuropulmonary blastoma skos:exactMatch OMIM:601200 pleuropulmonary blastoma semapv:UnspecifiedMatching MONDO:0011014 pleuropulmonary blastoma skos:exactMatch Orphanet:64742 Pleuropulmonary blastoma semapv:UnspecifiedMatching MONDO:0011014 pleuropulmonary blastoma skos:exactMatch SCTID:707670009 semapv:UnspecifiedMatching MONDO:0011014 pleuropulmonary blastoma skos:exactMatch UMLS:C1266144 semapv:UnspecifiedMatching MONDO:0011014 pleuropulmonary blastoma skos:exactMatch mesh:C537516 semapv:UnspecifiedMatching MONDO:0011015 cataract 24 skos:exactMatch DOID:0110257 cataract 24 semapv:UnspecifiedMatching MONDO:0011015 cataract 24 skos:exactMatch OMIM:601202 cataract 24 semapv:UnspecifiedMatching MONDO:0011015 cataract 24 skos:exactMatch UMLS:C1832609 semapv:UnspecifiedMatching MONDO:0011015 cataract 24 skos:exactMatch mesh:C537774 semapv:UnspecifiedMatching MONDO:0011016 type 1 diabetes mellitus 11 skos:exactMatch DOID:0110750 type 1 diabetes mellitus 11 semapv:UnspecifiedMatching MONDO:0011016 type 1 diabetes mellitus 11 skos:exactMatch OMIM:601208 iia 1 diabetes mellitus 11 semapv:UnspecifiedMatching MONDO:0011016 type 1 diabetes mellitus 11 skos:exactMatch UMLS:C1832605 semapv:UnspecifiedMatching MONDO:0011016 type 1 diabetes mellitus 11 skos:exactMatch mesh:C563371 semapv:UnspecifiedMatching MONDO:0011017 Naxos disease skos:exactMatch DOID:0080551 Naxos disease semapv:UnspecifiedMatching MONDO:0011017 Naxos disease skos:exactMatch OMIM:601214 naxos disease semapv:UnspecifiedMatching MONDO:0011017 Naxos disease skos:exactMatch Orphanet:34217 Naxos disease semapv:UnspecifiedMatching MONDO:0011017 Naxos disease skos:exactMatch SCTID:715535009 semapv:UnspecifiedMatching MONDO:0011017 Naxos disease skos:exactMatch UMLS:C1832600 semapv:UnspecifiedMatching MONDO:0011017 Naxos disease skos:exactMatch mesh:C538346 semapv:UnspecifiedMatching MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:exactMatch DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome semapv:UnspecifiedMatching MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:exactMatch OMIM:601216 dental anomalies and short stature semapv:UnspecifiedMatching MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:exactMatch Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome semapv:UnspecifiedMatching MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:exactMatch SCTID:716195006 semapv:UnspecifiedMatching MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:exactMatch OMIM:601217 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:exactMatch Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome semapv:UnspecifiedMatching MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:exactMatch SCTID:720981000 semapv:UnspecifiedMatching MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:exactMatch mesh:C563370 semapv:UnspecifiedMatching MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:exactMatch OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome semapv:UnspecifiedMatching MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:exactMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:UnspecifiedMatching MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:exactMatch SCTID:722113001 semapv:UnspecifiedMatching MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:exactMatch UMLS:C1832592 semapv:UnspecifiedMatching MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:exactMatch mesh:C536062 semapv:UnspecifiedMatching MONDO:0011021 neuronal intestinal dysplasia, type B skos:exactMatch DOID:0080680 neuronal intestinal dysplasia type B semapv:UnspecifiedMatching MONDO:0011021 neuronal intestinal dysplasia, type B skos:exactMatch OMIM:601223 neuronal intestinal dysplasia, iia B semapv:UnspecifiedMatching MONDO:0011021 neuronal intestinal dysplasia, type B skos:exactMatch UMLS:C1832589 semapv:UnspecifiedMatching MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch DOID:0111687 Potocki-Shaffer syndrome semapv:UnspecifiedMatching MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch NCIT:C75456 Potocki-Shaffer Syndrome semapv:UnspecifiedMatching MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch OMIM:601224 potocki-shaffer syndrome semapv:UnspecifiedMatching MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:UnspecifiedMatching MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch SCTID:702346005 semapv:UnspecifiedMatching MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch UMLS:C1832588 semapv:UnspecifiedMatching MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch mesh:C538356 semapv:UnspecifiedMatching MONDO:0011023 hereditary mixed polyposis syndrome skos:exactMatch DOID:0111684 hereditary mixed polyposis syndrome semapv:UnspecifiedMatching MONDO:0011023 hereditary mixed polyposis syndrome skos:exactMatch OMIMPS:601228 semapv:UnspecifiedMatching MONDO:0011023 hereditary mixed polyposis syndrome skos:exactMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:UnspecifiedMatching MONDO:0011023 hereditary mixed polyposis syndrome skos:exactMatch UMLS:C5192681 semapv:UnspecifiedMatching MONDO:0011023 hereditary mixed polyposis syndrome skos:exactMatch mesh:C563365 semapv:UnspecifiedMatching MONDO:0011024 dermatitis herpetiformis, familial skos:exactMatch OMIM:601230 dermatitis herpetiformis, familial semapv:UnspecifiedMatching MONDO:0011024 dermatitis herpetiformis, familial skos:exactMatch UMLS:C1832586 semapv:UnspecifiedMatching MONDO:0011024 dermatitis herpetiformis, familial skos:exactMatch mesh:C538218 semapv:UnspecifiedMatching MONDO:0011025 Cayman type cerebellar ataxia skos:exactMatch DOID:0060694 Cayman type cerebellar ataxia semapv:UnspecifiedMatching MONDO:0011025 Cayman type cerebellar ataxia skos:exactMatch OMIM:601238 cerebellar ataxia, cayman iia semapv:UnspecifiedMatching MONDO:0011025 Cayman type cerebellar ataxia skos:exactMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:UnspecifiedMatching MONDO:0011025 Cayman type cerebellar ataxia skos:exactMatch SCTID:717332007 semapv:UnspecifiedMatching MONDO:0011025 Cayman type cerebellar ataxia skos:exactMatch UMLS:C1832585 semapv:UnspecifiedMatching MONDO:0011025 Cayman type cerebellar ataxia skos:exactMatch mesh:C563363 semapv:UnspecifiedMatching MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:exactMatch DOID:0060712 autosomal recessive congenital ichthyosis 4A semapv:UnspecifiedMatching MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:exactMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:UnspecifiedMatching MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:exactMatch mesh:C537264 semapv:UnspecifiedMatching MONDO:0011027 diabetes mellitus, noninsulin-dependent, 1 skos:exactMatch OMIM:601283 iia 2 diabetes mellitus 1 semapv:UnspecifiedMatching MONDO:0011027 diabetes mellitus, noninsulin-dependent, 1 skos:exactMatch UMLS:C1832544 semapv:UnspecifiedMatching MONDO:0011027 diabetes mellitus, noninsulin-dependent, 1 skos:exactMatch mesh:C563359 semapv:UnspecifiedMatching MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:exactMatch DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F semapv:UnspecifiedMatching MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:exactMatch OMIM:601287 muscular dystrophy, limb-girdle, autosomal recessive 6 semapv:UnspecifiedMatching MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:exactMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:UnspecifiedMatching MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:exactMatch SCTID:718177001 semapv:UnspecifiedMatching MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:exactMatch mesh:C535896 semapv:UnspecifiedMatching MONDO:0011029 myeloid tumor suppressor skos:exactMatch OMIM:601308 myeloid tumor suppressor semapv:UnspecifiedMatching MONDO:0011030 epithelial basolateral chloride conductance regulator, rabbit, homolog of skos:exactMatch OMIM:601315 epithelial basolateral chloride conductance regulator, rabbit, homolog of semapv:UnspecifiedMatching MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:exactMatch DOID:0110542 autosomal dominant nonsyndromic deafness 10 semapv:UnspecifiedMatching MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:exactMatch OMIM:601316 deafness, autosomal dominant 10 semapv:UnspecifiedMatching MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:exactMatch UMLS:C1832476 semapv:UnspecifiedMatching MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:exactMatch mesh:C563354 semapv:UnspecifiedMatching MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:exactMatch DOID:0110543 autosomal dominant nonsyndromic deafness 11 semapv:UnspecifiedMatching MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:exactMatch OMIM:601317 deafness, autosomal dominant 11 semapv:UnspecifiedMatching MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:exactMatch UMLS:C1832475 semapv:UnspecifiedMatching MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:exactMatch mesh:C563353 semapv:UnspecifiedMatching MONDO:0011033 type 1 diabetes mellitus 13 skos:exactMatch DOID:0110752 type 1 diabetes mellitus 13 semapv:UnspecifiedMatching MONDO:0011033 type 1 diabetes mellitus 13 skos:exactMatch OMIM:601318 iia 1 diabetes mellitus 13 semapv:UnspecifiedMatching MONDO:0011033 type 1 diabetes mellitus 13 skos:exactMatch UMLS:C1832474 semapv:UnspecifiedMatching MONDO:0011033 type 1 diabetes mellitus 13 skos:exactMatch mesh:C563352 semapv:UnspecifiedMatching MONDO:0011034 odontomicronychial dysplasia skos:exactMatch OMIM:601319 odontomicronychial dysplasia semapv:UnspecifiedMatching MONDO:0011034 odontomicronychial dysplasia skos:exactMatch Orphanet:1811 Odontomicronychial dysplasia semapv:UnspecifiedMatching MONDO:0011034 odontomicronychial dysplasia skos:exactMatch UMLS:C1832473 semapv:UnspecifiedMatching MONDO:0011034 odontomicronychial dysplasia skos:exactMatch mesh:C537741 semapv:UnspecifiedMatching MONDO:0011035 neurofibromatosis-Noonan syndrome skos:exactMatch DOID:0111683 neurofibromatosis-Noonan syndrome semapv:UnspecifiedMatching MONDO:0011035 neurofibromatosis-Noonan syndrome skos:exactMatch OMIM:601321 neurofibromatosis-noonan syndrome semapv:UnspecifiedMatching MONDO:0011035 neurofibromatosis-Noonan syndrome skos:exactMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:UnspecifiedMatching MONDO:0011035 neurofibromatosis-Noonan syndrome skos:exactMatch SCTID:715344006 semapv:UnspecifiedMatching MONDO:0011035 neurofibromatosis-Noonan syndrome skos:exactMatch mesh:C537393 semapv:UnspecifiedMatching MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:exactMatch OMIM:601322 porencephaly, cerebellar hypoplasia, and internal malformations semapv:UnspecifiedMatching MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:exactMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:UnspecifiedMatching MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:exactMatch SCTID:763821001 semapv:UnspecifiedMatching MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:exactMatch UMLS:C1832472 semapv:UnspecifiedMatching MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:exactMatch mesh:C536336 semapv:UnspecifiedMatching MONDO:0011037 renal dysplasia, cystic, susceptibility to skos:exactMatch DOID:0111682 diffuse cystic renal dysplasia semapv:UnspecifiedMatching MONDO:0011037 renal dysplasia, cystic, susceptibility to skos:exactMatch OMIM:601331 renal dysplasia, cystic, susceptibility to semapv:UnspecifiedMatching MONDO:0011037 renal dysplasia, cystic, susceptibility to skos:exactMatch mesh:C537755 semapv:UnspecifiedMatching MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:exactMatch OMIM:601338 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss semapv:UnspecifiedMatching MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:exactMatch Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:UnspecifiedMatching MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:exactMatch SCTID:720634003 semapv:UnspecifiedMatching MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:exactMatch mesh:C535351 semapv:UnspecifiedMatching MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:exactMatch OMIM:601341 atrophia maculosa varioliformis cutis, familial semapv:UnspecifiedMatching MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:exactMatch UMLS:C1832465 semapv:UnspecifiedMatching MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:exactMatch mesh:C563349 semapv:UnspecifiedMatching MONDO:0011040 spinal dysplasia, Anhalt type skos:exactMatch OMIM:601344 spinal dysplasia, anhalt iia semapv:UnspecifiedMatching MONDO:0011040 spinal dysplasia, Anhalt type skos:exactMatch UMLS:C1832464 semapv:UnspecifiedMatching MONDO:0011040 spinal dysplasia, Anhalt type skos:exactMatch mesh:C563348 semapv:UnspecifiedMatching MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:exactMatch OMIM:601345 ectodermal dysplasia with natal teeth, turnpenny iia semapv:UnspecifiedMatching MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:exactMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:UnspecifiedMatching MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:exactMatch SCTID:715576000 semapv:UnspecifiedMatching MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:exactMatch UMLS:C1832444 semapv:UnspecifiedMatching MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:exactMatch mesh:C563347 semapv:UnspecifiedMatching MONDO:0011042 Martinez-Frias syndrome skos:exactMatch OMIM:601346 martinez-frias syndrome semapv:UnspecifiedMatching MONDO:0011042 Martinez-Frias syndrome skos:exactMatch UMLS:C1832443 semapv:UnspecifiedMatching MONDO:0011042 Martinez-Frias syndrome skos:exactMatch mesh:C563346 semapv:UnspecifiedMatching MONDO:0011043 myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay skos:exactMatch OMIM:601347 myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay semapv:UnspecifiedMatching MONDO:0011043 myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay skos:exactMatch UMLS:C1832442 semapv:UnspecifiedMatching MONDO:0011043 myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay skos:exactMatch mesh:C563345 semapv:UnspecifiedMatching MONDO:0011044 ectrodactyly of lower limbs, congenital heart defect, and micrognathia skos:exactMatch OMIM:601348 ectrodactyly of lower limbs, congenital heart defect, and micrognathia semapv:UnspecifiedMatching MONDO:0011044 ectrodactyly of lower limbs, congenital heart defect, and micrognathia skos:exactMatch UMLS:C1832441 semapv:UnspecifiedMatching MONDO:0011044 ectrodactyly of lower limbs, congenital heart defect, and micrognathia skos:exactMatch mesh:C563344 semapv:UnspecifiedMatching MONDO:0011045 MMEP syndrome skos:exactMatch DOID:0111803 syndromic microphthalmia 8 semapv:UnspecifiedMatching MONDO:0011045 MMEP syndrome skos:exactMatch OMIM:601349 microphthalmia, syndromic 8 semapv:UnspecifiedMatching MONDO:0011045 MMEP syndrome skos:exactMatch Orphanet:3434 MMEP syndrome semapv:UnspecifiedMatching MONDO:0011045 MMEP syndrome skos:exactMatch SCTID:715533002 semapv:UnspecifiedMatching MONDO:0011045 MMEP syndrome skos:exactMatch UMLS:C1832440 semapv:UnspecifiedMatching MONDO:0011045 MMEP syndrome skos:exactMatch mesh:C537686 semapv:UnspecifiedMatching MONDO:0011046 short stature, Brussels type skos:exactMatch OMIM:601350 short stature syndrome, brussels iia semapv:UnspecifiedMatching MONDO:0011046 short stature, Brussels type skos:exactMatch Orphanet:2867 Short stature, Brussels type semapv:UnspecifiedMatching MONDO:0011046 short stature, Brussels type skos:exactMatch SCTID:719213009 semapv:UnspecifiedMatching MONDO:0011046 short stature, Brussels type skos:exactMatch UMLS:C1832439 semapv:UnspecifiedMatching MONDO:0011046 short stature, Brussels type skos:exactMatch mesh:C537121 semapv:UnspecifiedMatching MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:exactMatch OMIM:601351 growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction semapv:UnspecifiedMatching MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:exactMatch Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome semapv:UnspecifiedMatching MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:exactMatch SCTID:716238003 semapv:UnspecifiedMatching MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:exactMatch UMLS:C1832438 semapv:UnspecifiedMatching MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:exactMatch mesh:C535928 semapv:UnspecifiedMatching MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:exactMatch OMIM:601352 mental retardation, microcephaly, epilepsy, and coarse face semapv:UnspecifiedMatching MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:exactMatch Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome semapv:UnspecifiedMatching MONDO:0011049 Fine-Lubinsky syndrome skos:exactMatch OMIM:601353 brachycephaly, deafness, cataract, microstomia, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0011049 Fine-Lubinsky syndrome skos:exactMatch Orphanet:1272 Aymé-Gripp syndrome semapv:UnspecifiedMatching MONDO:0011049 Fine-Lubinsky syndrome skos:exactMatch SCTID:720955004 semapv:UnspecifiedMatching MONDO:0011049 Fine-Lubinsky syndrome skos:exactMatch UMLS:C0795941 semapv:UnspecifiedMatching MONDO:0011049 Fine-Lubinsky syndrome skos:exactMatch mesh:C537933 semapv:UnspecifiedMatching MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:exactMatch OMIM:601355 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs semapv:UnspecifiedMatching MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:exactMatch Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome semapv:UnspecifiedMatching MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:exactMatch SCTID:719379001 semapv:UnspecifiedMatching MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:exactMatch mesh:C563341 semapv:UnspecifiedMatching MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type skos:exactMatch OMIM:601356 lethal short-limb skeletal dysplasia, al gazali iia semapv:UnspecifiedMatching MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type skos:exactMatch Orphanet:646136 Dysplastic cortical hyperostosis, Al-Gazali type semapv:UnspecifiedMatching MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type skos:exactMatch UMLS:C1832435 semapv:UnspecifiedMatching MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type skos:exactMatch mesh:C537598 semapv:UnspecifiedMatching MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:exactMatch OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly semapv:UnspecifiedMatching MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:exactMatch UMLS:C1832434 semapv:UnspecifiedMatching MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:exactMatch mesh:C536713 semapv:UnspecifiedMatching MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:exactMatch OMIM:601358 nicolaides-baraitser syndrome semapv:UnspecifiedMatching MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:exactMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:UnspecifiedMatching MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:exactMatch SCTID:401046009 semapv:UnspecifiedMatching MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:exactMatch UMLS:C1303073 semapv:UnspecifiedMatching MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:exactMatch mesh:C536116 semapv:UnspecifiedMatching MONDO:0011054 autosomal recessive amelia skos:exactMatch OMIM:601360 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome semapv:UnspecifiedMatching MONDO:0011054 autosomal recessive amelia skos:exactMatch Orphanet:1027 Autosomal recessive amelia semapv:UnspecifiedMatching MONDO:0011054 autosomal recessive amelia skos:exactMatch SCTID:726735000 semapv:UnspecifiedMatching MONDO:0011054 autosomal recessive amelia skos:exactMatch UMLS:C1832432 semapv:UnspecifiedMatching MONDO:0011054 autosomal recessive amelia skos:exactMatch mesh:C563338 semapv:UnspecifiedMatching MONDO:0011055 distal monosomy 10p skos:exactMatch NCIT:C130982 10p13-p14 Deletion Syndrome semapv:UnspecifiedMatching MONDO:0011055 distal monosomy 10p skos:exactMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:UnspecifiedMatching MONDO:0011055 distal monosomy 10p skos:exactMatch Orphanet:1580 Distal deletion 10p semapv:UnspecifiedMatching MONDO:0011055 distal monosomy 10p skos:exactMatch SCTID:719686003 semapv:UnspecifiedMatching MONDO:0011055 distal monosomy 10p skos:exactMatch UMLS:C1832431 semapv:UnspecifiedMatching MONDO:0011055 distal monosomy 10p skos:exactMatch mesh:C563337 semapv:UnspecifiedMatching MONDO:0011056 Wilms tumor 4 skos:exactMatch OMIM:601363 wilms tumor 4 semapv:UnspecifiedMatching MONDO:0011056 Wilms tumor 4 skos:exactMatch UMLS:C1832426 semapv:UnspecifiedMatching MONDO:0011056 Wilms tumor 4 skos:exactMatch mesh:C563336 semapv:UnspecifiedMatching MONDO:0011057 cerebrovascular disorder skos:exactMatch DOID:6713 cerebrovascular disease semapv:UnspecifiedMatching MONDO:0011057 cerebrovascular disorder skos:exactMatch ICD10CM:I60-I69 Cerebrovascular diseases (I60-I69) semapv:UnspecifiedMatching MONDO:0011057 cerebrovascular disorder skos:exactMatch NCIT:C2938 Cerebrovascular Disorder semapv:UnspecifiedMatching MONDO:0011057 cerebrovascular disorder skos:exactMatch SCTID:62914000 semapv:UnspecifiedMatching MONDO:0011057 cerebrovascular disorder skos:exactMatch UMLS:C0007820 semapv:UnspecifiedMatching MONDO:0011057 cerebrovascular disorder skos:exactMatch mesh:D002561 semapv:UnspecifiedMatching MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:exactMatch DOID:0110593 autosomal dominant nonsyndromic deafness 9 semapv:UnspecifiedMatching MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:exactMatch OMIM:601369 deafness, autosomal dominant 9 semapv:UnspecifiedMatching MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:exactMatch UMLS:C1832425 semapv:UnspecifiedMatching MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:exactMatch mesh:C563335 semapv:UnspecifiedMatching MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:exactMatch OMIM:601370 holoprosencephaly, semilobar, with craniosynostosis semapv:UnspecifiedMatching MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:exactMatch Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome semapv:UnspecifiedMatching MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:exactMatch SCTID:715434005 semapv:UnspecifiedMatching MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:exactMatch UMLS:C1832424 semapv:UnspecifiedMatching MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:exactMatch mesh:C537684 semapv:UnspecifiedMatching MONDO:0011060 early-onset non-syndromic cataract skos:exactMatch OMIM:601371 cataract, age-related nuclear semapv:UnspecifiedMatching MONDO:0011060 early-onset non-syndromic cataract skos:exactMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:UnspecifiedMatching MONDO:0011060 early-onset non-syndromic cataract skos:exactMatch UMLS:C1832423 semapv:UnspecifiedMatching MONDO:0011061 chorea, remitting, with nystagmus and cataract skos:exactMatch OMIM:601372 chorea, remitting, with nystagmus and cataract semapv:UnspecifiedMatching MONDO:0011061 chorea, remitting, with nystagmus and cataract skos:exactMatch UMLS:C1832422 semapv:UnspecifiedMatching MONDO:0011061 chorea, remitting, with nystagmus and cataract skos:exactMatch mesh:C535355 semapv:UnspecifiedMatching MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:exactMatch OMIM:601374 aprosencephaly and cerebellar dysgenesis semapv:UnspecifiedMatching MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:exactMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:UnspecifiedMatching MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:exactMatch UMLS:C1832412 semapv:UnspecifiedMatching MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:exactMatch mesh:C563331 semapv:UnspecifiedMatching MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:exactMatch OMIM:601375 ectodermal dysplasia, hidrotic, christianson-fourie iia semapv:UnspecifiedMatching MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:exactMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:UnspecifiedMatching MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:exactMatch UMLS:C1832411 semapv:UnspecifiedMatching MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:exactMatch mesh:C536180 semapv:UnspecifiedMatching MONDO:0011064 lethal chondrodysplasia, Seller type skos:exactMatch OMIM:601376 chondrodysplasia, lethal, with long bone angulation and mixed bone density semapv:UnspecifiedMatching MONDO:0011064 lethal chondrodysplasia, Seller type skos:exactMatch UMLS:C1832410 semapv:UnspecifiedMatching MONDO:0011064 lethal chondrodysplasia, Seller type skos:exactMatch mesh:C563330 semapv:UnspecifiedMatching MONDO:0011065 Hunter-McAlpine craniosynostosis skos:exactMatch OMIM:601379 hunter-mcalpine craniosynostosis syndrome semapv:UnspecifiedMatching MONDO:0011065 Hunter-McAlpine craniosynostosis skos:exactMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:UnspecifiedMatching MONDO:0011065 Hunter-McAlpine craniosynostosis skos:exactMatch SCTID:721227001 semapv:UnspecifiedMatching MONDO:0011065 Hunter-McAlpine craniosynostosis skos:exactMatch UMLS:C1832408 semapv:UnspecifiedMatching MONDO:0011065 Hunter-McAlpine craniosynostosis skos:exactMatch mesh:C536072 semapv:UnspecifiedMatching MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch DOID:0110191 Charcot-Marie-Tooth disease type 4B1 semapv:UnspecifiedMatching MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch OMIM:601382 charcot-marie-tooth disease, iia 4b1 semapv:UnspecifiedMatching MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:UnspecifiedMatching MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch SCTID:715803003 semapv:UnspecifiedMatching MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch UMLS:C1832399 semapv:UnspecifiedMatching MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch mesh:C535420 semapv:UnspecifiedMatching MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:exactMatch DOID:0110467 autosomal recessive nonsyndromic deafness 12 semapv:UnspecifiedMatching MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:exactMatch OMIM:601386 deafness, autosomal recessive 12 semapv:UnspecifiedMatching MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:exactMatch UMLS:C1832394 semapv:UnspecifiedMatching MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:exactMatch mesh:C563327 semapv:UnspecifiedMatching MONDO:0011068 type 1 diabetes mellitus 12 skos:exactMatch DOID:0110751 type 1 diabetes mellitus 12 semapv:UnspecifiedMatching MONDO:0011068 type 1 diabetes mellitus 12 skos:exactMatch OMIM:601388 iia 1 diabetes mellitus 12 semapv:UnspecifiedMatching MONDO:0011068 type 1 diabetes mellitus 12 skos:exactMatch UMLS:C1832392 semapv:UnspecifiedMatching MONDO:0011068 type 1 diabetes mellitus 12 skos:exactMatch mesh:C563326 semapv:UnspecifiedMatching MONDO:0011069 cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction skos:exactMatch OMIM:601389 cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction semapv:UnspecifiedMatching MONDO:0011069 cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction skos:exactMatch UMLS:C1832391 semapv:UnspecifiedMatching MONDO:0011069 cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction skos:exactMatch mesh:C538072 semapv:UnspecifiedMatching MONDO:0011070 van Maldergem syndrome 1 skos:exactMatch DOID:0080585 Van Maldergem syndrome 1 semapv:UnspecifiedMatching MONDO:0011070 van Maldergem syndrome 1 skos:exactMatch OMIM:601390 van maldergem syndrome 1 semapv:UnspecifiedMatching MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome skos:exactMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:UnspecifiedMatching MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome skos:exactMatch SCTID:725034002 semapv:UnspecifiedMatching MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome skos:exactMatch mesh:C563324 semapv:UnspecifiedMatching MONDO:0011072 diabetes mellitus, noninsulin-dependent, 2 skos:exactMatch OMIM:601407 iia 2 diabetes mellitus 2 semapv:UnspecifiedMatching MONDO:0011072 diabetes mellitus, noninsulin-dependent, 2 skos:exactMatch UMLS:C1832387 semapv:UnspecifiedMatching MONDO:0011072 diabetes mellitus, noninsulin-dependent, 2 skos:exactMatch mesh:C563323 semapv:UnspecifiedMatching MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:exactMatch OMIM:601410 diabetes mellitus, transient neonatal, 1 semapv:UnspecifiedMatching MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:exactMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:UnspecifiedMatching MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:exactMatch SCTID:609579009 semapv:UnspecifiedMatching MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:exactMatch mesh:C563322 semapv:UnspecifiedMatching MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:exactMatch DOID:0110591 autosomal dominant nonsyndromic deafness 7 semapv:UnspecifiedMatching MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:exactMatch OMIM:601412 deafness, autosomal dominant 7 semapv:UnspecifiedMatching MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:exactMatch UMLS:C1832379 semapv:UnspecifiedMatching MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:exactMatch mesh:C563321 semapv:UnspecifiedMatching MONDO:0011075 retinitis pigmentosa 18 skos:exactMatch DOID:0110356 retinitis pigmentosa 18 semapv:UnspecifiedMatching MONDO:0011075 retinitis pigmentosa 18 skos:exactMatch OMIM:601414 retinitis pigmentosa 18 semapv:UnspecifiedMatching MONDO:0011075 retinitis pigmentosa 18 skos:exactMatch UMLS:C1832378 semapv:UnspecifiedMatching MONDO:0011075 retinitis pigmentosa 18 skos:exactMatch mesh:C563320 semapv:UnspecifiedMatching MONDO:0011076 myofibrillar myopathy 1 skos:exactMatch DOID:0080092 myofibrillar myopathy 1 semapv:UnspecifiedMatching MONDO:0011076 myofibrillar myopathy 1 skos:exactMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:UnspecifiedMatching MONDO:0011076 myofibrillar myopathy 1 skos:exactMatch Orphanet:98909 Desminopathy semapv:UnspecifiedMatching MONDO:0011076 myofibrillar myopathy 1 skos:exactMatch UMLS:C1832370 semapv:UnspecifiedMatching MONDO:0011077 microcephaly, corpus callosum dysgenesis, and cleft lip/palate skos:exactMatch OMIM:601420 microcephaly, corpus callosum dysgenesis, and cleft lip/palate semapv:UnspecifiedMatching MONDO:0011077 microcephaly, corpus callosum dysgenesis, and cleft lip/palate skos:exactMatch UMLS:C1832369 semapv:UnspecifiedMatching MONDO:0011077 microcephaly, corpus callosum dysgenesis, and cleft lip/palate skos:exactMatch mesh:C537547 semapv:UnspecifiedMatching MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:exactMatch OMIM:601427 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis semapv:UnspecifiedMatching MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:exactMatch Orphanet:2321 Jung syndrome semapv:UnspecifiedMatching MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:exactMatch UMLS:C1832362 semapv:UnspecifiedMatching MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:exactMatch mesh:C537694 semapv:UnspecifiedMatching MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:exactMatch OMIM:601438 rhizomelic dysplasia, patterson-lowry iia semapv:UnspecifiedMatching MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:exactMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:UnspecifiedMatching MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:exactMatch SCTID:715505002 semapv:UnspecifiedMatching MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:exactMatch UMLS:C1832359 semapv:UnspecifiedMatching MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:exactMatch mesh:C537609 semapv:UnspecifiedMatching MONDO:0011080 progressive deafness with stapes fixation skos:exactMatch OMIM:601449 deafness, progressive, with stapes fixation semapv:UnspecifiedMatching MONDO:0011080 progressive deafness with stapes fixation skos:exactMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:UnspecifiedMatching MONDO:0011080 progressive deafness with stapes fixation skos:exactMatch SCTID:715529009 semapv:UnspecifiedMatching MONDO:0011080 progressive deafness with stapes fixation skos:exactMatch UMLS:C1832354 semapv:UnspecifiedMatching MONDO:0011080 progressive deafness with stapes fixation skos:exactMatch mesh:C563316 semapv:UnspecifiedMatching MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:exactMatch OMIM:601450 dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism semapv:UnspecifiedMatching MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:exactMatch Orphanet:2412 Dislocation of the hip-dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:exactMatch SCTID:763755009 semapv:UnspecifiedMatching MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:exactMatch UMLS:C1832353 semapv:UnspecifiedMatching MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:exactMatch mesh:C563315 semapv:UnspecifiedMatching MONDO:0011082 oculoauriculofrontonasal syndrome skos:exactMatch OMIM:601452 oculoauriculofrontonasal syndrome semapv:UnspecifiedMatching MONDO:0011082 oculoauriculofrontonasal syndrome skos:exactMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:UnspecifiedMatching MONDO:0011082 oculoauriculofrontonasal syndrome skos:exactMatch UMLS:C1832352 semapv:UnspecifiedMatching MONDO:0011082 oculoauriculofrontonasal syndrome skos:exactMatch mesh:C537865 semapv:UnspecifiedMatching MONDO:0011083 trichodental syndrome skos:exactMatch OMIM:601453 trichodental dysplasia semapv:UnspecifiedMatching MONDO:0011083 trichodental syndrome skos:exactMatch Orphanet:3351 Trichodental syndrome semapv:UnspecifiedMatching MONDO:0011083 trichodental syndrome skos:exactMatch SCTID:277810000 semapv:UnspecifiedMatching MONDO:0011083 trichodental syndrome skos:exactMatch UMLS:C0406724 semapv:UnspecifiedMatching MONDO:0011083 trichodental syndrome skos:exactMatch mesh:C536551 semapv:UnspecifiedMatching MONDO:0011084 psoriasis 3, susceptibility to skos:exactMatch DOID:0111283 psoriasis 3 semapv:UnspecifiedMatching MONDO:0011084 psoriasis 3, susceptibility to skos:exactMatch OMIM:601454 psoriasis 3, susceptibility to semapv:UnspecifiedMatching MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:exactMatch DOID:0110186 Charcot-Marie-Tooth disease type 4D semapv:UnspecifiedMatching MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:exactMatch OMIM:601455 charcot-marie-tooth disease, iia 4d semapv:UnspecifiedMatching MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:exactMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:UnspecifiedMatching MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:exactMatch SCTID:715798007 semapv:UnspecifiedMatching MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:exactMatch UMLS:C1832334 semapv:UnspecifiedMatching MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:exactMatch mesh:C535716 semapv:UnspecifiedMatching MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:exactMatch DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive semapv:UnspecifiedMatching MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:exactMatch OMIM:601457 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-positive semapv:UnspecifiedMatching MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:exactMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:UnspecifiedMatching MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:exactMatch UMLS:C1832322 semapv:UnspecifiedMatching MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:exactMatch mesh:C563311 semapv:UnspecifiedMatching MONDO:0011087 inflammatory bowel disease 2 skos:exactMatch DOID:0110900 inflammatory bowel disease 2 semapv:UnspecifiedMatching MONDO:0011087 inflammatory bowel disease 2 skos:exactMatch OMIM:601458 inflammatory bowel disease 2 semapv:UnspecifiedMatching MONDO:0011087 inflammatory bowel disease 2 skos:exactMatch UMLS:C1832321 semapv:UnspecifiedMatching MONDO:0011087 inflammatory bowel disease 2 skos:exactMatch mesh:C563310 semapv:UnspecifiedMatching MONDO:0011088 congenital myasthenic syndrome 1A skos:exactMatch DOID:0110663 congenital myasthenic syndrome 1A semapv:UnspecifiedMatching MONDO:0011088 congenital myasthenic syndrome 1A skos:exactMatch OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel semapv:UnspecifiedMatching MONDO:0011089 patent ductus venosus skos:exactMatch OMIM:601466 patent ductus venosus semapv:UnspecifiedMatching MONDO:0011089 patent ductus venosus skos:exactMatch SCTID:253330006 semapv:UnspecifiedMatching MONDO:0011089 patent ductus venosus skos:exactMatch mesh:C562830 semapv:UnspecifiedMatching MONDO:0011090 isolated hereditary congenital facial paralysis skos:exactMatch OMIMPS:601471 semapv:UnspecifiedMatching MONDO:0011090 isolated hereditary congenital facial paralysis skos:exactMatch Orphanet:306527 Isolated hereditary congenital facial paralysis semapv:UnspecifiedMatching MONDO:0011090 isolated hereditary congenital facial paralysis skos:exactMatch SCTID:733091002 semapv:UnspecifiedMatching MONDO:0011090 isolated hereditary congenital facial paralysis skos:exactMatch UMLS:C4518577 semapv:UnspecifiedMatching MONDO:0011090 isolated hereditary congenital facial paralysis skos:exactMatch mesh:C563309 semapv:UnspecifiedMatching MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:exactMatch DOID:0110164 Charcot-Marie-Tooth disease type 2D semapv:UnspecifiedMatching MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:exactMatch NCIT:C122659 Charcot-Marie-Tooth Disease Type 2D semapv:UnspecifiedMatching MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:exactMatch OMIM:601472 charcot-marie-tooth disease, axonal, iia 2d semapv:UnspecifiedMatching MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:exactMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:UnspecifiedMatching MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:exactMatch SCTID:717011006 semapv:UnspecifiedMatching MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:exactMatch UMLS:C1832274 semapv:UnspecifiedMatching MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:exactMatch mesh:C537993 semapv:UnspecifiedMatching MONDO:0011092 ribbing disease skos:exactMatch OMIM:601477 ribbing disease semapv:UnspecifiedMatching MONDO:0011092 ribbing disease skos:exactMatch UMLS:C1832273 semapv:UnspecifiedMatching MONDO:0011092 ribbing disease skos:exactMatch mesh:C537613 semapv:UnspecifiedMatching MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch DOID:0050809 mucopolysaccharidosis IX semapv:UnspecifiedMatching MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch NCIT:C129073 Mucopolysaccharidosis Type IX semapv:UnspecifiedMatching MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch OMIM:601492 mucopolysaccharidosis, iia 9 semapv:UnspecifiedMatching MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch Orphanet:67041 Hyaluronidase deficiency semapv:UnspecifiedMatching MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch SCTID:124473006 semapv:UnspecifiedMatching MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch UMLS:C1291490 semapv:UnspecifiedMatching MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch mesh:C563209 semapv:UnspecifiedMatching MONDO:0011094 dilated cardiomyopathy 1C skos:exactMatch DOID:0110423 dilated cardiomyopathy 1C semapv:UnspecifiedMatching MONDO:0011094 dilated cardiomyopathy 1C skos:exactMatch NCIT:C170436 Dilated Cardiomyopathy-1C semapv:UnspecifiedMatching MONDO:0011094 dilated cardiomyopathy 1C skos:exactMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:UnspecifiedMatching MONDO:0011094 dilated cardiomyopathy 1C skos:exactMatch mesh:C563307 semapv:UnspecifiedMatching MONDO:0011095 dilated cardiomyopathy 1D skos:exactMatch DOID:0110426 dilated cardiomyopathy 1D semapv:UnspecifiedMatching MONDO:0011095 dilated cardiomyopathy 1D skos:exactMatch OMIM:601494 cardiomyopathy, dilated, 1d semapv:UnspecifiedMatching MONDO:0011095 dilated cardiomyopathy 1D skos:exactMatch UMLS:C1832243 semapv:UnspecifiedMatching MONDO:0011095 dilated cardiomyopathy 1D skos:exactMatch mesh:C563306 semapv:UnspecifiedMatching MONDO:0011096 autosomal agammaglobulinemia skos:exactMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:UnspecifiedMatching MONDO:0011096 autosomal agammaglobulinemia skos:exactMatch UMLS:C1832241 semapv:UnspecifiedMatching MONDO:0011096 autosomal agammaglobulinemia skos:exactMatch mesh:C538056 semapv:UnspecifiedMatching MONDO:0011097 Axenfeld-Rieger syndrome type 2 skos:exactMatch DOID:0110121 Axenfeld-Rieger syndrome type 2 semapv:UnspecifiedMatching MONDO:0011097 Axenfeld-Rieger syndrome type 2 skos:exactMatch OMIM:601499 axenfeld-rieger syndrome, iia 2 semapv:UnspecifiedMatching MONDO:0011097 Axenfeld-Rieger syndrome type 2 skos:exactMatch UMLS:C1832229 semapv:UnspecifiedMatching MONDO:0011097 Axenfeld-Rieger syndrome type 2 skos:exactMatch mesh:C535680 semapv:UnspecifiedMatching MONDO:0011098 prostate cancer, hereditary, 1 skos:exactMatch OMIM:601518 prostate cancer, hereditary, 1 semapv:UnspecifiedMatching MONDO:0011099 human HOXA1 syndromes skos:exactMatch DOID:0050682 Athabaskan brainstem dysgenesis syndrome semapv:UnspecifiedMatching MONDO:0011099 human HOXA1 syndromes skos:exactMatch OMIM:601536 athabaskan brainstem dysgenesis syndrome semapv:UnspecifiedMatching MONDO:0011099 human HOXA1 syndromes skos:exactMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:UnspecifiedMatching MONDO:0011099 human HOXA1 syndromes skos:exactMatch SCTID:720518006 semapv:UnspecifiedMatching MONDO:0011099 human HOXA1 syndromes skos:exactMatch UMLS:C1832215 semapv:UnspecifiedMatching MONDO:0011100 microcephaly, retinitis pigmentosa, and sutural cataract skos:exactMatch OMIM:601537 microcephaly, retinitis pigmentosa, and sutural cataract semapv:UnspecifiedMatching MONDO:0011100 microcephaly, retinitis pigmentosa, and sutural cataract skos:exactMatch UMLS:C1832214 semapv:UnspecifiedMatching MONDO:0011100 microcephaly, retinitis pigmentosa, and sutural cataract skos:exactMatch mesh:C563296 semapv:UnspecifiedMatching MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch DOID:0081240 peroxisome biogenesis disorder 1B semapv:UnspecifiedMatching MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch NCIT:C155749 Peroxisome Biogenesis Disorder 1B semapv:UnspecifiedMatching MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:UnspecifiedMatching MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch UMLS:C0282527 semapv:UnspecifiedMatching MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:exactMatch DOID:0110544 autosomal dominant nonsyndromic deafness 12 semapv:UnspecifiedMatching MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:exactMatch OMIM:601543 deafness, autosomal dominant 12 semapv:UnspecifiedMatching MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:exactMatch UMLS:C1832187 semapv:UnspecifiedMatching MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:exactMatch mesh:C563295 semapv:UnspecifiedMatching MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:exactMatch DOID:0110564 autosomal dominant nonsyndromic deafness 3A semapv:UnspecifiedMatching MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:exactMatch OMIM:601544 deafness, autosomal dominant 3a semapv:UnspecifiedMatching MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:exactMatch UMLS:C2675750 semapv:UnspecifiedMatching MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:exactMatch mesh:C567277 semapv:UnspecifiedMatching MONDO:0011104 cataract 3 multiple types skos:exactMatch DOID:0110269 cataract 3 multiple types semapv:UnspecifiedMatching MONDO:0011104 cataract 3 multiple types skos:exactMatch OMIM:601547 cataract 3, multiple types semapv:UnspecifiedMatching MONDO:0011104 cataract 3 multiple types skos:exactMatch UMLS:C1832175 semapv:UnspecifiedMatching MONDO:0011104 cataract 3 multiple types skos:exactMatch mesh:C563294 semapv:UnspecifiedMatching MONDO:0011105 alacrima, congenital, autosomal recessive skos:exactMatch OMIM:601549 alacrima, congenital, autosomal recessive semapv:UnspecifiedMatching MONDO:0011105 alacrima, congenital, autosomal recessive skos:exactMatch UMLS:C4012597 semapv:UnspecifiedMatching MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:exactMatch OMIM:601552 traboulsi syndrome semapv:UnspecifiedMatching MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:exactMatch Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:UnspecifiedMatching MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:exactMatch UMLS:C1832167 semapv:UnspecifiedMatching MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:exactMatch mesh:C563293 semapv:UnspecifiedMatching MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:exactMatch DOID:0110711 congenital hypotrichosis with juvenile macular dystrophy semapv:UnspecifiedMatching MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:exactMatch OMIM:601553 hypotrichosis, congenital, with juvenile macular dystrophy semapv:UnspecifiedMatching MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:exactMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:UnspecifiedMatching MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:exactMatch UMLS:C1832162 semapv:UnspecifiedMatching MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:exactMatch mesh:C537698 semapv:UnspecifiedMatching MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:exactMatch OMIM:601560 multiple epiphyseal dysplasia with robin phenotype semapv:UnspecifiedMatching MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:exactMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:UnspecifiedMatching MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:exactMatch SCTID:768935003 semapv:UnspecifiedMatching MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:exactMatch UMLS:C1832112 semapv:UnspecifiedMatching MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:exactMatch mesh:C563291 semapv:UnspecifiedMatching MONDO:0011110 dyssegmental dysplasia-glaucoma syndrome skos:exactMatch OMIM:601561 dyssegmental dysplasia with glaucoma semapv:UnspecifiedMatching MONDO:0011110 dyssegmental dysplasia-glaucoma syndrome skos:exactMatch UMLS:C1832111 semapv:UnspecifiedMatching MONDO:0011110 dyssegmental dysplasia-glaucoma syndrome skos:exactMatch mesh:C563290 semapv:UnspecifiedMatching MONDO:0011111 obsolete horns in sheep skos:exactMatch OMIM:601563 semapv:UnspecifiedMatching MONDO:0011112 Wilms tumor 5 skos:exactMatch OMIM:601583 wilms tumor 5 semapv:UnspecifiedMatching MONDO:0011112 Wilms tumor 5 skos:exactMatch mesh:C536707 semapv:UnspecifiedMatching MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:exactMatch DOID:0110183 Charcot-Marie-Tooth disease type 4C semapv:UnspecifiedMatching MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:exactMatch NCIT:C129864 Charcot-Marie-Tooth Disease Type 4C semapv:UnspecifiedMatching MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:exactMatch OMIM:601596 charcot-marie-tooth disease, iia 4c semapv:UnspecifiedMatching MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:exactMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:UnspecifiedMatching MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:exactMatch SCTID:715797002 semapv:UnspecifiedMatching MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:exactMatch UMLS:C1866636 semapv:UnspecifiedMatching MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:exactMatch mesh:C535423 semapv:UnspecifiedMatching MONDO:0011114 familial multiple trichoepithelioma skos:exactMatch Orphanet:867 Familial multiple trichoepithelioma semapv:UnspecifiedMatching MONDO:0011114 familial multiple trichoepithelioma skos:exactMatch SCTID:403825008 semapv:UnspecifiedMatching MONDO:0011114 familial multiple trichoepithelioma skos:exactMatch UMLS:C1275122 semapv:UnspecifiedMatching MONDO:0011115 spastic paraplegia and Evans syndrome skos:exactMatch OMIM:601608 spastic paraplegia and evans syndrome semapv:UnspecifiedMatching MONDO:0011115 spastic paraplegia and Evans syndrome skos:exactMatch UMLS:C1866619 semapv:UnspecifiedMatching MONDO:0011115 spastic paraplegia and Evans syndrome skos:exactMatch mesh:C566652 semapv:UnspecifiedMatching MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:exactMatch OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome semapv:UnspecifiedMatching MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:exactMatch Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome semapv:UnspecifiedMatching MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:exactMatch SCTID:721976003 semapv:UnspecifiedMatching MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:exactMatch mesh:C535708 semapv:UnspecifiedMatching MONDO:0011117 iris pigment epithelium anomalies skos:exactMatch OMIM:601616 iris pigment epithelium anomalies semapv:UnspecifiedMatching MONDO:0011117 iris pigment epithelium anomalies skos:exactMatch UMLS:C1866608 semapv:UnspecifiedMatching MONDO:0011117 iris pigment epithelium anomalies skos:exactMatch mesh:C566651 semapv:UnspecifiedMatching MONDO:0011118 bilineal acute myeloid leukemia skos:exactMatch NCIT:C6923 Acute Bilineal Leukemia semapv:UnspecifiedMatching MONDO:0011118 bilineal acute myeloid leukemia skos:exactMatch UMLS:C0349680 semapv:UnspecifiedMatching MONDO:0011119 iridogoniodysgenesis skos:exactMatch DOID:0050786 iridogoniodysgenesis syndrome semapv:UnspecifiedMatching MONDO:0011119 iridogoniodysgenesis skos:exactMatch Orphanet:98634 Anterior segment developmental anomaly without extraocular manifestations semapv:UnspecifiedMatching MONDO:0011120 neural tube defects, folate-sensitive skos:exactMatch OMIM:601634 neural tube defects, folate-sensitive semapv:UnspecifiedMatching MONDO:0011120 neural tube defects, folate-sensitive skos:exactMatch UMLS:C1866558 semapv:UnspecifiedMatching MONDO:0011120 neural tube defects, folate-sensitive skos:exactMatch mesh:C536409 semapv:UnspecifiedMatching MONDO:0011121 paragangliomas 2 skos:exactMatch OMIM:601650 pheochromocytoma/paraganglioma syndrome 2 semapv:UnspecifiedMatching MONDO:0011121 paragangliomas 2 skos:exactMatch mesh:C566646 semapv:UnspecifiedMatching MONDO:0011122 obesity disorder skos:exactMatch DOID:9970 obesity semapv:UnspecifiedMatching MONDO:0011122 obesity disorder skos:exactMatch NCIT:C3283 Obesity semapv:UnspecifiedMatching MONDO:0011122 obesity disorder skos:exactMatch SCTID:414916001 semapv:UnspecifiedMatching MONDO:0011122 obesity disorder skos:exactMatch UMLS:C0028754 semapv:UnspecifiedMatching MONDO:0011123 type 1 diabetes mellitus 15 skos:exactMatch DOID:0110753 type 1 diabetes mellitus 15 semapv:UnspecifiedMatching MONDO:0011123 type 1 diabetes mellitus 15 skos:exactMatch OMIM:601666 iia 1 diabetes mellitus 15 semapv:UnspecifiedMatching MONDO:0011123 type 1 diabetes mellitus 15 skos:exactMatch UMLS:C1866519 semapv:UnspecifiedMatching MONDO:0011123 type 1 diabetes mellitus 15 skos:exactMatch mesh:C566645 semapv:UnspecifiedMatching MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:exactMatch OMIM:601668 spondyloepimetaphyseal dysplasia with abnormal dentition semapv:UnspecifiedMatching MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:exactMatch Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome semapv:UnspecifiedMatching MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:exactMatch UMLS:C1866507 semapv:UnspecifiedMatching MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:exactMatch mesh:C566644 semapv:UnspecifiedMatching MONDO:0011125 trichothiodystrophy 1, photosensitive skos:exactMatch DOID:0111873 photosensitive trichothiodystrophy 1 semapv:UnspecifiedMatching MONDO:0011125 trichothiodystrophy 1, photosensitive skos:exactMatch NCIT:C156433 Trichothiodystrophy 1, Photosensitive semapv:UnspecifiedMatching MONDO:0011125 trichothiodystrophy 1, photosensitive skos:exactMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:UnspecifiedMatching MONDO:0011126 acute insulin response skos:exactMatch OMIM:601676 acute insulin response semapv:UnspecifiedMatching MONDO:0011128 Sheldon-hall syndrome skos:exactMatch DOID:0111599 distal arthrogryposis type 2B semapv:UnspecifiedMatching MONDO:0011128 Sheldon-hall syndrome skos:exactMatch Orphanet:1147 Sheldon-Hall syndrome semapv:UnspecifiedMatching MONDO:0011128 Sheldon-hall syndrome skos:exactMatch UMLS:C1834523 semapv:UnspecifiedMatching MONDO:0011129 glaucoma type 1C skos:exactMatch OMIM:601682 glaucoma 1, primary open angle, c semapv:UnspecifiedMatching MONDO:0011129 glaucoma type 1C skos:exactMatch UMLS:C1866483 semapv:UnspecifiedMatching MONDO:0011130 sebaceous gland hyperplasia, familial presenile skos:exactMatch OMIM:601700 sebaceous gland hyperplasia, familial presenile semapv:UnspecifiedMatching MONDO:0011130 sebaceous gland hyperplasia, familial presenile skos:exactMatch UMLS:C1866428 semapv:UnspecifiedMatching MONDO:0011130 sebaceous gland hyperplasia, familial presenile skos:exactMatch mesh:C537530 semapv:UnspecifiedMatching MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:exactMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:UnspecifiedMatching MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:exactMatch mesh:C537441 semapv:UnspecifiedMatching MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy semapv:UnspecifiedMatching MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch OMIM:601705 t-cell immunodeficiency, congenital alopecia, and nail dystrophy semapv:UnspecifiedMatching MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:UnspecifiedMatching MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch SCTID:720345008 semapv:UnspecifiedMatching MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch UMLS:C1866426 semapv:UnspecifiedMatching MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch mesh:C536781 semapv:UnspecifiedMatching MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:exactMatch OMIM:601706 yemenite deaf-blind hypopigmentation syndrome semapv:UnspecifiedMatching MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:exactMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:UnspecifiedMatching MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:exactMatch SCTID:721084001 semapv:UnspecifiedMatching MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:exactMatch UMLS:C1866425 semapv:UnspecifiedMatching MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:exactMatch mesh:C536771 semapv:UnspecifiedMatching MONDO:0011134 Curry-Jones syndrome skos:exactMatch OMIM:601707 curry-jones syndrome semapv:UnspecifiedMatching MONDO:0011134 Curry-Jones syndrome skos:exactMatch Orphanet:1553 Curry-Jones syndrome semapv:UnspecifiedMatching MONDO:0011134 Curry-Jones syndrome skos:exactMatch SCTID:720819006 semapv:UnspecifiedMatching MONDO:0011134 Curry-Jones syndrome skos:exactMatch UMLS:C0795915 semapv:UnspecifiedMatching MONDO:0011134 Curry-Jones syndrome skos:exactMatch mesh:C536735 semapv:UnspecifiedMatching MONDO:0011135 superior transverse scapular ligament, calcification of, familial skos:exactMatch OMIM:601708 superior transverse scapular ligament, calcification of, familial semapv:UnspecifiedMatching MONDO:0011135 superior transverse scapular ligament, calcification of, familial skos:exactMatch UMLS:C1866424 semapv:UnspecifiedMatching MONDO:0011135 superior transverse scapular ligament, calcification of, familial skos:exactMatch mesh:C566638 semapv:UnspecifiedMatching MONDO:0011136 Quebec platelet disorder skos:exactMatch DOID:0111050 Quebec platelet disorder semapv:UnspecifiedMatching MONDO:0011136 Quebec platelet disorder skos:exactMatch OMIM:601709 quebec platelet disorder semapv:UnspecifiedMatching MONDO:0011136 Quebec platelet disorder skos:exactMatch Orphanet:220436 Quebec platelet disorder semapv:UnspecifiedMatching MONDO:0011136 Quebec platelet disorder skos:exactMatch UMLS:C1866423 semapv:UnspecifiedMatching MONDO:0011136 Quebec platelet disorder skos:exactMatch mesh:C536260 semapv:UnspecifiedMatching MONDO:0011137 retinitis pigmentosa 19 skos:exactMatch DOID:0110354 retinitis pigmentosa 19 semapv:UnspecifiedMatching MONDO:0011137 retinitis pigmentosa 19 skos:exactMatch OMIM:601718 retinitis pigmentosa 19 semapv:UnspecifiedMatching MONDO:0011137 retinitis pigmentosa 19 skos:exactMatch UMLS:C1866422 semapv:UnspecifiedMatching MONDO:0011137 retinitis pigmentosa 19 skos:exactMatch mesh:C566637 semapv:UnspecifiedMatching MONDO:0011138 systemic lupus erythematosus, susceptibility to, 1 skos:exactMatch OMIM:601744 systemic lupus erythematosus, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011139 preaxial hallucal polydactyly skos:exactMatch OMIM:601759 preaxial hallucal polydactyly semapv:UnspecifiedMatching MONDO:0011139 preaxial hallucal polydactyly skos:exactMatch UMLS:C1866339 semapv:UnspecifiedMatching MONDO:0011139 preaxial hallucal polydactyly skos:exactMatch mesh:C566632 semapv:UnspecifiedMatching MONDO:0011141 megaloblastic anemia, folate-responsive skos:exactMatch OMIM:601775 megaloblastic anemia, folate-responsive semapv:UnspecifiedMatching MONDO:0011141 megaloblastic anemia, folate-responsive skos:exactMatch UMLS:C2749656 semapv:UnspecifiedMatching MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch SCTID:720860004 semapv:UnspecifiedMatching MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch mesh:C000600608 semapv:UnspecifiedMatching MONDO:0011143 cone-rod dystrophy 6 skos:exactMatch DOID:0111011 cone-rod dystrophy 6 semapv:UnspecifiedMatching MONDO:0011143 cone-rod dystrophy 6 skos:exactMatch OMIM:601777 cone-rod dystrophy 6 semapv:UnspecifiedMatching MONDO:0011143 cone-rod dystrophy 6 skos:exactMatch UMLS:C1866293 semapv:UnspecifiedMatching MONDO:0011143 cone-rod dystrophy 6 skos:exactMatch mesh:C538363 semapv:UnspecifiedMatching MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:exactMatch DOID:0110729 neuronal ceroid lipofuscinosis 6A semapv:UnspecifiedMatching MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:exactMatch OMIM:601780 ceroid lipofuscinosis, neuronal, 6a semapv:UnspecifiedMatching MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:exactMatch Orphanet:228363 OBSOLETE: CLN6 disease semapv:UnspecifiedMatching MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:exactMatch mesh:C566627 semapv:UnspecifiedMatching MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:exactMatch OMIM:601794 coloboma-obesity-hypogenitalism-mental retardation syndrome semapv:UnspecifiedMatching MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:exactMatch Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:exactMatch UMLS:C1866256 semapv:UnspecifiedMatching MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:exactMatch mesh:C566623 semapv:UnspecifiedMatching MONDO:0011146 tetrasomy 12p skos:exactMatch NCIT:C75458 Pallister-Killian Syndrome semapv:UnspecifiedMatching MONDO:0011146 tetrasomy 12p skos:exactMatch OMIM:601803 pallister-killian syndrome semapv:UnspecifiedMatching MONDO:0011146 tetrasomy 12p skos:exactMatch Orphanet:884 Tetrasomy 12p semapv:UnspecifiedMatching MONDO:0011146 tetrasomy 12p skos:exactMatch SCTID:9527009 semapv:UnspecifiedMatching MONDO:0011146 tetrasomy 12p skos:exactMatch UMLS:C0265449 semapv:UnspecifiedMatching MONDO:0011146 tetrasomy 12p skos:exactMatch mesh:C538105 semapv:UnspecifiedMatching MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch DOID:0060407 chromosome 18q deletion syndrome semapv:UnspecifiedMatching MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch NCIT:C84522 Deletion 18q Syndrome semapv:UnspecifiedMatching MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch OMIM:601808 chromosome 18q deletion syndrome semapv:UnspecifiedMatching MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch Orphanet:1600 Monosomy 18q semapv:UnspecifiedMatching MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch Orphanet:262146 Partial deletion of the long arm of chromosome 18 semapv:UnspecifiedMatching MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch SCTID:270889005 semapv:UnspecifiedMatching MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch UMLS:C0432443 semapv:UnspecifiedMatching MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch mesh:C536580 semapv:UnspecifiedMatching MONDO:0011148 Spondylospinal thoracic dysostosis skos:exactMatch OMIM:601809 spondylospinal thoracic dysostosis semapv:UnspecifiedMatching MONDO:0011148 Spondylospinal thoracic dysostosis skos:exactMatch UMLS:C1866184 semapv:UnspecifiedMatching MONDO:0011148 Spondylospinal thoracic dysostosis skos:exactMatch mesh:C566622 semapv:UnspecifiedMatching MONDO:0011149 premature aging syndrome, Okamoto type skos:exactMatch OMIM:601811 premature aging syndrome, okamoto iia semapv:UnspecifiedMatching MONDO:0011149 premature aging syndrome, Okamoto type skos:exactMatch UMLS:C1866183 semapv:UnspecifiedMatching MONDO:0011149 premature aging syndrome, Okamoto type skos:exactMatch mesh:C566621 semapv:UnspecifiedMatching MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:exactMatch OMIM:601812 premature aging syndrome, penttinen iia semapv:UnspecifiedMatching MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:exactMatch Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:UnspecifiedMatching MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:exactMatch UMLS:C1866182 semapv:UnspecifiedMatching MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:exactMatch mesh:C536653 semapv:UnspecifiedMatching MONDO:0011151 exudative vitreoretinopathy 4 skos:exactMatch DOID:0111411 exudative vitreoretinopathy 4 semapv:UnspecifiedMatching MONDO:0011151 exudative vitreoretinopathy 4 skos:exactMatch OMIM:601813 exudative vitreoretinopathy 4 semapv:UnspecifiedMatching MONDO:0011151 exudative vitreoretinopathy 4 skos:exactMatch UMLS:C1866176 semapv:UnspecifiedMatching MONDO:0011151 exudative vitreoretinopathy 4 skos:exactMatch mesh:C566619 semapv:UnspecifiedMatching MONDO:0011152 PHGDH deficiency skos:exactMatch DOID:0050722 PHGDH deficiency semapv:UnspecifiedMatching MONDO:0011152 PHGDH deficiency skos:exactMatch OMIM:601815 phosphoglycerate dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0011152 PHGDH deficiency skos:exactMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:UnspecifiedMatching MONDO:0011152 PHGDH deficiency skos:exactMatch UMLS:C1866174 semapv:UnspecifiedMatching MONDO:0011152 PHGDH deficiency skos:exactMatch mesh:C566618 semapv:UnspecifiedMatching MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch DOID:0070218 familial hyperinsulinemic hypoglycemia 2 semapv:UnspecifiedMatching MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:UnspecifiedMatching MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch UMLS:C2931833 semapv:UnspecifiedMatching MONDO:0011154 acrofacial dysostosis, Palagonia type skos:exactMatch DOID:0060385 acrofacial dysostosis, Patagonia type semapv:UnspecifiedMatching MONDO:0011154 acrofacial dysostosis, Palagonia type skos:exactMatch OMIM:601829 acrofacial dysostosis, palagonia iia semapv:UnspecifiedMatching MONDO:0011154 acrofacial dysostosis, Palagonia type skos:exactMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:UnspecifiedMatching MONDO:0011154 acrofacial dysostosis, Palagonia type skos:exactMatch SCTID:720429007 semapv:UnspecifiedMatching MONDO:0011154 acrofacial dysostosis, Palagonia type skos:exactMatch UMLS:C1866168 semapv:UnspecifiedMatching MONDO:0011154 acrofacial dysostosis, Palagonia type skos:exactMatch mesh:C538185 semapv:UnspecifiedMatching MONDO:0011155 vacuolar Neuromyopathy skos:exactMatch OMIM:601846 myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant semapv:UnspecifiedMatching MONDO:0011155 vacuolar Neuromyopathy skos:exactMatch UMLS:C1866139 semapv:UnspecifiedMatching MONDO:0011155 vacuolar Neuromyopathy skos:exactMatch mesh:C566617 semapv:UnspecifiedMatching MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:exactMatch DOID:0070222 progressive familial intrahepatic cholestasis 2 semapv:UnspecifiedMatching MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:exactMatch OMIM:601847 cholestasis, progressive familial intrahepatic, 2 semapv:UnspecifiedMatching MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:exactMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:UnspecifiedMatching MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:exactMatch UMLS:C3489789 semapv:UnspecifiedMatching MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:exactMatch OMIM:601853 gomez-lopez-hernandez syndrome semapv:UnspecifiedMatching MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:exactMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:UnspecifiedMatching MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:exactMatch SCTID:722451006 semapv:UnspecifiedMatching MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:exactMatch mesh:C537285 semapv:UnspecifiedMatching MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:exactMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:UnspecifiedMatching MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:exactMatch SCTID:702444009 semapv:UnspecifiedMatching MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:exactMatch UMLS:C1328840 semapv:UnspecifiedMatching MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:exactMatch DOID:0110545 autosomal dominant nonsyndromic deafness 13 semapv:UnspecifiedMatching MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:exactMatch OMIM:601868 deafness, autosomal dominant 13 semapv:UnspecifiedMatching MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:exactMatch UMLS:C1866095 semapv:UnspecifiedMatching MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:exactMatch mesh:C566612 semapv:UnspecifiedMatching MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:exactMatch DOID:0110470 autosomal recessive nonsyndromic deafness 15 semapv:UnspecifiedMatching MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:exactMatch OMIM:601869 deafness, autosomal recessive 15 semapv:UnspecifiedMatching MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:exactMatch UMLS:C1866094 semapv:UnspecifiedMatching MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:exactMatch mesh:C566611 semapv:UnspecifiedMatching MONDO:0011161 sperm-specific antigen 1 skos:exactMatch OMIM:601876 sperm-specific antigen 1 semapv:UnspecifiedMatching MONDO:0011162 cataract 14 multiple types skos:exactMatch DOID:0110253 cataract 14 multiple types semapv:UnspecifiedMatching MONDO:0011162 cataract 14 multiple types skos:exactMatch OMIM:601885 cataract 14, multiple types semapv:UnspecifiedMatching MONDO:0011162 cataract 14 multiple types skos:exactMatch UMLS:C1866078 semapv:UnspecifiedMatching MONDO:0011162 cataract 14 multiple types skos:exactMatch mesh:C566608 semapv:UnspecifiedMatching MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:exactMatch OMIM:601887 malignant hyperthermia, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:exactMatch mesh:C535698 semapv:UnspecifiedMatching MONDO:0011164 malignant hyperthermia, susceptibility to, 6 skos:exactMatch OMIM:601888 malignant hyperthermia, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0011164 malignant hyperthermia, susceptibility to, 6 skos:exactMatch mesh:C535699 semapv:UnspecifiedMatching MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:exactMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:UnspecifiedMatching MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:exactMatch SCTID:722759007 semapv:UnspecifiedMatching MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:exactMatch OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies semapv:UnspecifiedMatching MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:exactMatch Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome semapv:UnspecifiedMatching MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:exactMatch SCTID:721978002 semapv:UnspecifiedMatching MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:exactMatch mesh:C535539 semapv:UnspecifiedMatching MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:exactMatch mesh:C567398 semapv:UnspecifiedMatching MONDO:0011167 type 1 diabetes mellitus 6 skos:exactMatch DOID:0110745 type 1 diabetes mellitus 6 semapv:UnspecifiedMatching MONDO:0011167 type 1 diabetes mellitus 6 skos:exactMatch OMIM:601941 iia 1 diabetes mellitus 6 semapv:UnspecifiedMatching MONDO:0011167 type 1 diabetes mellitus 6 skos:exactMatch UMLS:C1866041 semapv:UnspecifiedMatching MONDO:0011167 type 1 diabetes mellitus 6 skos:exactMatch mesh:C566603 semapv:UnspecifiedMatching MONDO:0011168 type 1 diabetes mellitus 10 skos:exactMatch DOID:0110749 type 1 diabetes mellitus 10 semapv:UnspecifiedMatching MONDO:0011168 type 1 diabetes mellitus 10 skos:exactMatch OMIM:601942 iia 1 diabetes mellitus 10 semapv:UnspecifiedMatching MONDO:0011168 type 1 diabetes mellitus 10 skos:exactMatch UMLS:C1866040 semapv:UnspecifiedMatching MONDO:0011168 type 1 diabetes mellitus 10 skos:exactMatch mesh:C566602 semapv:UnspecifiedMatching MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:exactMatch OMIM:601952 keratosis linearis with ichthyosis congenita and sclerosing keratoderma semapv:UnspecifiedMatching MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:exactMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:UnspecifiedMatching MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:exactMatch SCTID:763775000 semapv:UnspecifiedMatching MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:exactMatch UMLS:C1866029 semapv:UnspecifiedMatching MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:exactMatch mesh:C566600 semapv:UnspecifiedMatching MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:exactMatch DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G semapv:UnspecifiedMatching MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:exactMatch OMIM:601954 muscular dystrophy, limb-girdle, autosomal recessive 7 semapv:UnspecifiedMatching MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:exactMatch Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 semapv:UnspecifiedMatching MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:exactMatch SCTID:720522001 semapv:UnspecifiedMatching MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:exactMatch mesh:C566599 semapv:UnspecifiedMatching MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:exactMatch OMIM:601957 odontotrichoungual-digital-palmar syndrome semapv:UnspecifiedMatching MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:exactMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:UnspecifiedMatching MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:exactMatch SCTID:722063009 semapv:UnspecifiedMatching MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:exactMatch UMLS:C1865998 semapv:UnspecifiedMatching MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:exactMatch mesh:C566598 semapv:UnspecifiedMatching MONDO:0011172 otofacioosseous-gonadal syndrome skos:exactMatch OMIM:601976 otofacioosseous-gonadal syndrome semapv:UnspecifiedMatching MONDO:0011172 otofacioosseous-gonadal syndrome skos:exactMatch UMLS:C1865988 semapv:UnspecifiedMatching MONDO:0011172 otofacioosseous-gonadal syndrome skos:exactMatch mesh:C566597 semapv:UnspecifiedMatching MONDO:0011173 thrombocythemia 2 skos:exactMatch OMIM:601977 thrombocythemia 2 semapv:UnspecifiedMatching MONDO:0011173 thrombocythemia 2 skos:exactMatch UMLS:C3275998 semapv:UnspecifiedMatching MONDO:0011174 hyperzincemia with functional zinc depletion skos:exactMatch OMIM:601979 hyperzincemia with functional zinc depletion semapv:UnspecifiedMatching MONDO:0011174 hyperzincemia with functional zinc depletion skos:exactMatch UMLS:C1865986 semapv:UnspecifiedMatching MONDO:0011174 hyperzincemia with functional zinc depletion skos:exactMatch mesh:C566595 semapv:UnspecifiedMatching MONDO:0011175 Friedreich ataxia 2 skos:exactMatch DOID:0111219 Friedreich ataxia 2 semapv:UnspecifiedMatching MONDO:0011175 Friedreich ataxia 2 skos:exactMatch OMIM:601992 friedreich ataxia 2 semapv:UnspecifiedMatching MONDO:0011175 Friedreich ataxia 2 skos:exactMatch UMLS:C1865981 semapv:UnspecifiedMatching MONDO:0011175 Friedreich ataxia 2 skos:exactMatch mesh:C566594 semapv:UnspecifiedMatching MONDO:0011176 intestinal hypomagnesemia 1 skos:exactMatch DOID:0060883 intestinal hypomagnesemia 1 semapv:UnspecifiedMatching MONDO:0011176 intestinal hypomagnesemia 1 skos:exactMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:UnspecifiedMatching MONDO:0011176 intestinal hypomagnesemia 1 skos:exactMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:UnspecifiedMatching MONDO:0011176 intestinal hypomagnesemia 1 skos:exactMatch SCTID:190856003 semapv:UnspecifiedMatching MONDO:0011176 intestinal hypomagnesemia 1 skos:exactMatch UMLS:C1865974 semapv:UnspecifiedMatching MONDO:0011176 intestinal hypomagnesemia 1 skos:exactMatch mesh:C566593 semapv:UnspecifiedMatching MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:exactMatch DOID:0111658 ectodermal dysplasia 4 semapv:UnspecifiedMatching MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:exactMatch OMIM:602032 ectodermal dysplasia 4, hair/nail iia semapv:UnspecifiedMatching MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:exactMatch mesh:C566592 semapv:UnspecifiedMatching MONDO:0011178 infantile convulsions and choreoathetosis skos:exactMatch NCIT:C126650 Infantile Convulsions and Paroxysmal Choreoathetosis, Familial semapv:UnspecifiedMatching MONDO:0011178 infantile convulsions and choreoathetosis skos:exactMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:UnspecifiedMatching MONDO:0011178 infantile convulsions and choreoathetosis skos:exactMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:UnspecifiedMatching MONDO:0011178 infantile convulsions and choreoathetosis skos:exactMatch SCTID:715534008 semapv:UnspecifiedMatching MONDO:0011178 infantile convulsions and choreoathetosis skos:exactMatch UMLS:C1865926 semapv:UnspecifiedMatching MONDO:0011178 infantile convulsions and choreoathetosis skos:exactMatch mesh:C535522 semapv:UnspecifiedMatching MONDO:0011179 leishmaniasis, tegumentary, susceptibility to skos:exactMatch OMIM:602068 leishmaniasis, tegumentary, susceptibility to semapv:UnspecifiedMatching MONDO:0011180 broad terminal phalanges, familial skos:exactMatch OMIM:602071 broad terminal phalanges, familial semapv:UnspecifiedMatching MONDO:0011180 broad terminal phalanges, familial skos:exactMatch UMLS:C1865923 semapv:UnspecifiedMatching MONDO:0011180 broad terminal phalanges, familial skos:exactMatch mesh:C566588 semapv:UnspecifiedMatching MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:exactMatch DOID:0081016 congenital fibrosis of the extraocular muscles 2 semapv:UnspecifiedMatching MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:exactMatch OMIM:602078 fibrosis of extraocular muscles, congenital, 2 semapv:UnspecifiedMatching MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:exactMatch UMLS:C1865915 semapv:UnspecifiedMatching MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:exactMatch mesh:C566587 semapv:UnspecifiedMatching MONDO:0011182 trimethylaminuria skos:exactMatch SCTID:237959005 semapv:UnspecifiedMatching MONDO:0011182 trimethylaminuria skos:exactMatch UMLS:C0342739 semapv:UnspecifiedMatching MONDO:0011183 Paget disease of bone 2, early-onset skos:exactMatch DOID:0081365 Paget's disease of bone 2 semapv:UnspecifiedMatching MONDO:0011183 Paget disease of bone 2, early-onset skos:exactMatch OMIM:602080 paget disease of bone 2, early-onset semapv:UnspecifiedMatching MONDO:0011183 Paget disease of bone 2, early-onset skos:exactMatch UMLS:C4085251 semapv:UnspecifiedMatching MONDO:0011184 childhood apraxia of speech skos:exactMatch DOID:0111275 speech-language disorder-1 semapv:UnspecifiedMatching MONDO:0011184 childhood apraxia of speech skos:exactMatch OMIM:602081 speech-language disorder 1 semapv:UnspecifiedMatching MONDO:0011184 childhood apraxia of speech skos:exactMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:UnspecifiedMatching MONDO:0011184 childhood apraxia of speech skos:exactMatch SCTID:229703009 semapv:UnspecifiedMatching MONDO:0011185 Thiel-Behnke corneal dystrophy skos:exactMatch DOID:0060455 Thiel-Behnke corneal dystrophy semapv:UnspecifiedMatching MONDO:0011185 Thiel-Behnke corneal dystrophy skos:exactMatch OMIM:602082 corneal dystrophy, thiel-behnke iia semapv:UnspecifiedMatching MONDO:0011185 Thiel-Behnke corneal dystrophy skos:exactMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:UnspecifiedMatching MONDO:0011185 Thiel-Behnke corneal dystrophy skos:exactMatch SCTID:417065002 semapv:UnspecifiedMatching MONDO:0011185 Thiel-Behnke corneal dystrophy skos:exactMatch UMLS:C1562894 semapv:UnspecifiedMatching MONDO:0011185 Thiel-Behnke corneal dystrophy skos:exactMatch mesh:C535942 semapv:UnspecifiedMatching MONDO:0011186 Usher syndrome type 1F skos:exactMatch DOID:0110832 Usher syndrome type 1F semapv:UnspecifiedMatching MONDO:0011186 Usher syndrome type 1F skos:exactMatch OMIM:602083 usher syndrome, iia 1f semapv:UnspecifiedMatching MONDO:0011186 Usher syndrome type 1F skos:exactMatch UMLS:C1865885 semapv:UnspecifiedMatching MONDO:0011187 polydactyly, postaxial, type A2 skos:exactMatch OMIM:602085 polydactyly, postaxial, iia a2 semapv:UnspecifiedMatching MONDO:0011187 polydactyly, postaxial, type A2 skos:exactMatch UMLS:C1865883 semapv:UnspecifiedMatching MONDO:0011187 polydactyly, postaxial, type A2 skos:exactMatch mesh:C566585 semapv:UnspecifiedMatching MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:exactMatch DOID:0110072 arrhythmogenic right ventricular dysplasia 3 semapv:UnspecifiedMatching MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:exactMatch OMIM:602086 arrhythmogenic right ventricular dysplasia, familial, 3 semapv:UnspecifiedMatching MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:exactMatch UMLS:C1865882 semapv:UnspecifiedMatching MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:exactMatch mesh:C566584 semapv:UnspecifiedMatching MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:exactMatch DOID:0110073 arrhythmogenic right ventricular dysplasia 4 semapv:UnspecifiedMatching MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:exactMatch OMIM:602087 arrhythmogenic right ventricular dysplasia, familial, 4 semapv:UnspecifiedMatching MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:exactMatch UMLS:C1865881 semapv:UnspecifiedMatching MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:exactMatch mesh:C566583 semapv:UnspecifiedMatching MONDO:0011190 nephronophthisis 2 skos:exactMatch DOID:0111113 nephronophthisis 2 semapv:UnspecifiedMatching MONDO:0011190 nephronophthisis 2 skos:exactMatch OMIM:602088 nephronophthisis 2 semapv:UnspecifiedMatching MONDO:0011190 nephronophthisis 2 skos:exactMatch Orphanet:93591 Infantile nephronophthisis semapv:UnspecifiedMatching MONDO:0011190 nephronophthisis 2 skos:exactMatch UMLS:C1865872 semapv:UnspecifiedMatching MONDO:0011190 nephronophthisis 2 skos:exactMatch mesh:C566582 semapv:UnspecifiedMatching MONDO:0011191 capillary infantile hemangioma skos:exactMatch OMIM:602089 hemangioma, capillary infantile semapv:UnspecifiedMatching MONDO:0011191 capillary infantile hemangioma skos:exactMatch UMLS:C1865871 semapv:UnspecifiedMatching MONDO:0011191 capillary infantile hemangioma skos:exactMatch mesh:C535860 semapv:UnspecifiedMatching MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:exactMatch DOID:0110473 autosomal recessive nonsyndromic deafness 18A semapv:UnspecifiedMatching MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:exactMatch OMIM:602092 deafness, autosomal recessive 18a semapv:UnspecifiedMatching MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:exactMatch UMLS:C1865870 semapv:UnspecifiedMatching MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:exactMatch mesh:C566580 semapv:UnspecifiedMatching MONDO:0011193 cone dystrophy 3 skos:exactMatch DOID:0080314 cone-rod dystrophy 14 semapv:UnspecifiedMatching MONDO:0011193 cone dystrophy 3 skos:exactMatch OMIM:602093 cone dystrophy 3 semapv:UnspecifiedMatching MONDO:0011193 cone dystrophy 3 skos:exactMatch UMLS:C1865869 semapv:UnspecifiedMatching MONDO:0011194 Alzheimer disease 5 skos:exactMatch DOID:0110037 Alzheimer's disease 5 semapv:UnspecifiedMatching MONDO:0011194 Alzheimer disease 5 skos:exactMatch OMIM:602096 alzheimer disease 5 semapv:UnspecifiedMatching MONDO:0011194 Alzheimer disease 5 skos:exactMatch UMLS:C1865868 semapv:UnspecifiedMatching MONDO:0011194 Alzheimer disease 5 skos:exactMatch mesh:C566578 semapv:UnspecifiedMatching MONDO:0011195 Usher syndrome type 1E skos:exactMatch DOID:0110833 Usher syndrome type 1E semapv:UnspecifiedMatching MONDO:0011195 Usher syndrome type 1E skos:exactMatch OMIM:602097 usher syndrome, iia 1e semapv:UnspecifiedMatching MONDO:0011195 Usher syndrome type 1E skos:exactMatch UMLS:C1865865 semapv:UnspecifiedMatching MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:exactMatch DOID:0060197 amyotrophic lateral sclerosis type 5 semapv:UnspecifiedMatching MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:exactMatch OMIM:602099 amyotrophic lateral sclerosis 5, juvenile semapv:UnspecifiedMatching MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:exactMatch UMLS:C1865864 semapv:UnspecifiedMatching MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:exactMatch mesh:C566576 semapv:UnspecifiedMatching MONDO:0011197 hereditary thermosensitive neuropathy skos:exactMatch OMIM:602107 neuropathy, hereditary thermosensitive semapv:UnspecifiedMatching MONDO:0011197 hereditary thermosensitive neuropathy skos:exactMatch Orphanet:84093 Hereditary thermosensitive neuropathy semapv:UnspecifiedMatching MONDO:0011197 hereditary thermosensitive neuropathy skos:exactMatch SCTID:715645004 semapv:UnspecifiedMatching MONDO:0011197 hereditary thermosensitive neuropathy skos:exactMatch UMLS:C1865856 semapv:UnspecifiedMatching MONDO:0011197 hereditary thermosensitive neuropathy skos:exactMatch mesh:C566575 semapv:UnspecifiedMatching MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type semapv:UnspecifiedMatching MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia semapv:UnspecifiedMatching MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type semapv:UnspecifiedMatching MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch SCTID:719171005 semapv:UnspecifiedMatching MONDO:0011199 nephropathy, progressive tubulointerstitial, with cholestatic liver disease skos:exactMatch OMIM:602114 nephropathy, progressive tubulointerstitial, with cholestatic liver disease semapv:UnspecifiedMatching MONDO:0011199 nephropathy, progressive tubulointerstitial, with cholestatic liver disease skos:exactMatch UMLS:C1865831 semapv:UnspecifiedMatching MONDO:0011199 nephropathy, progressive tubulointerstitial, with cholestatic liver disease skos:exactMatch mesh:C566573 semapv:UnspecifiedMatching MONDO:0011200 torsion dystonia 7 skos:exactMatch DOID:0090040 torsion dystonia 7 semapv:UnspecifiedMatching MONDO:0011200 torsion dystonia 7 skos:exactMatch OMIM:602124 dystonia 7, torsion semapv:UnspecifiedMatching MONDO:0011200 torsion dystonia 7 skos:exactMatch mesh:C566572 semapv:UnspecifiedMatching MONDO:0011201 tremor, hereditary essential, 2 skos:exactMatch DOID:0111429 essential tremor 2 semapv:UnspecifiedMatching MONDO:0011201 tremor, hereditary essential, 2 skos:exactMatch OMIM:602134 tremor, hereditary essential, 2 semapv:UnspecifiedMatching MONDO:0011201 tremor, hereditary essential, 2 skos:exactMatch mesh:C536546 semapv:UnspecifiedMatching MONDO:0011202 RHYNS syndrome skos:exactMatch OMIM:602152 rhyns syndrome semapv:UnspecifiedMatching MONDO:0011202 RHYNS syndrome skos:exactMatch Orphanet:140976 RHYNS syndrome semapv:UnspecifiedMatching MONDO:0011202 RHYNS syndrome skos:exactMatch SCTID:723999009 semapv:UnspecifiedMatching MONDO:0011202 RHYNS syndrome skos:exactMatch UMLS:C1865794 semapv:UnspecifiedMatching MONDO:0011202 RHYNS syndrome skos:exactMatch mesh:C537612 semapv:UnspecifiedMatching MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:exactMatch OMIM:602196 pierre robin sequence with pectus excavatum and rib and scapular anomalies semapv:UnspecifiedMatching MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:exactMatch UMLS:C1865783 semapv:UnspecifiedMatching MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:exactMatch mesh:C535775 semapv:UnspecifiedMatching MONDO:0011204 obsolete cerebellar degeneration-related autoantigen 3 skos:exactMatch OMIM:602197 cerebellar degeneration-related autoantigen 3 semapv:UnspecifiedMatching MONDO:0011205 medium chain 3-ketoacyl-Coa thiolase deficiency skos:exactMatch OMIM:602199 medium chain 3-ketoacyl-coa thiolase deficiency semapv:UnspecifiedMatching MONDO:0011205 medium chain 3-ketoacyl-Coa thiolase deficiency skos:exactMatch UMLS:C1865781 semapv:UnspecifiedMatching MONDO:0011205 medium chain 3-ketoacyl-Coa thiolase deficiency skos:exactMatch mesh:C566566 semapv:UnspecifiedMatching MONDO:0011206 ventriculomegaly with defects of the radius and kidney skos:exactMatch OMIM:602200 ventriculomegaly with defects of the radius and kidney semapv:UnspecifiedMatching MONDO:0011206 ventriculomegaly with defects of the radius and kidney skos:exactMatch UMLS:C1865780 semapv:UnspecifiedMatching MONDO:0011206 ventriculomegaly with defects of the radius and kidney skos:exactMatch mesh:C566565 semapv:UnspecifiedMatching MONDO:0011207 xanthomatosis, susceptibility to skos:exactMatch OMIM:602247 xanthomatosis, susceptibility to semapv:UnspecifiedMatching MONDO:0011207 xanthomatosis, susceptibility to skos:exactMatch UMLS:C1865704 semapv:UnspecifiedMatching MONDO:0011208 malignant atrophic papulosis skos:exactMatch NCIT:C84835 Malignant Atrophic Papulosis semapv:UnspecifiedMatching MONDO:0011208 malignant atrophic papulosis skos:exactMatch OMIM:602248 malignant atrophic papulosis semapv:UnspecifiedMatching MONDO:0011208 malignant atrophic papulosis skos:exactMatch Orphanet:679 Malignant atrophic papulosis semapv:UnspecifiedMatching MONDO:0011208 malignant atrophic papulosis skos:exactMatch SCTID:400171002 semapv:UnspecifiedMatching MONDO:0011208 malignant atrophic papulosis skos:exactMatch UMLS:C0221011 semapv:UnspecifiedMatching MONDO:0011208 malignant atrophic papulosis skos:exactMatch mesh:D054853 semapv:UnspecifiedMatching MONDO:0011209 progeroid facial appearance with hand anomalies skos:exactMatch OMIM:602249 progeroid facial appearance with hand anomalies semapv:UnspecifiedMatching MONDO:0011209 progeroid facial appearance with hand anomalies skos:exactMatch UMLS:C1865699 semapv:UnspecifiedMatching MONDO:0011209 progeroid facial appearance with hand anomalies skos:exactMatch mesh:C566563 semapv:UnspecifiedMatching MONDO:0011210 mitochondrial intermembrane space protein Tim12, yeast, homolog of skos:exactMatch OMIM:602252 mitochondrial intermembrane space protein tim12, yeast, homolog of semapv:UnspecifiedMatching MONDO:0011211 axial spondylometaphyseal dysplasia skos:exactMatch DOID:0112299 axial spondylometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0011211 axial spondylometaphyseal dysplasia skos:exactMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:UnspecifiedMatching MONDO:0011211 axial spondylometaphyseal dysplasia skos:exactMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0011211 axial spondylometaphyseal dysplasia skos:exactMatch UMLS:C1865695 semapv:UnspecifiedMatching MONDO:0011211 axial spondylometaphyseal dysplasia skos:exactMatch mesh:C535795 semapv:UnspecifiedMatching MONDO:0011212 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth skos:exactMatch OMIM:602340 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth semapv:UnspecifiedMatching MONDO:0011212 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth skos:exactMatch UMLS:C1865645 semapv:UnspecifiedMatching MONDO:0011212 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth skos:exactMatch mesh:C566560 semapv:UnspecifiedMatching MONDO:0011213 Pierpont syndrome skos:exactMatch DOID:0081362 Pierpont syndrome semapv:UnspecifiedMatching MONDO:0011213 Pierpont syndrome skos:exactMatch OMIM:602342 pierpont syndrome semapv:UnspecifiedMatching MONDO:0011213 Pierpont syndrome skos:exactMatch Orphanet:487825 Pierpont syndrome semapv:UnspecifiedMatching MONDO:0011213 Pierpont syndrome skos:exactMatch UMLS:C1865644 semapv:UnspecifiedMatching MONDO:0011213 Pierpont syndrome skos:exactMatch mesh:C566559 semapv:UnspecifiedMatching MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:exactMatch DOID:0070223 progressive familial intrahepatic cholestasis 3 semapv:UnspecifiedMatching MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:exactMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:UnspecifiedMatching MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:exactMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:UnspecifiedMatching MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:exactMatch UMLS:C1865643 semapv:UnspecifiedMatching MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:exactMatch mesh:C535935 semapv:UnspecifiedMatching MONDO:0011215 osteocraniostenosis skos:exactMatch OMIM:602361 gracile bone dysplasia semapv:UnspecifiedMatching MONDO:0011215 osteocraniostenosis skos:exactMatch Orphanet:2763 Osteocraniostenosis semapv:UnspecifiedMatching MONDO:0011215 osteocraniostenosis skos:exactMatch SCTID:722109008 semapv:UnspecifiedMatching MONDO:0011215 osteocraniostenosis skos:exactMatch UMLS:C1865639 semapv:UnspecifiedMatching MONDO:0011215 osteocraniostenosis skos:exactMatch mesh:C537291 semapv:UnspecifiedMatching MONDO:0011216 hemochromatosis type 2A skos:exactMatch DOID:0111027 hemochromatosis type 2A semapv:UnspecifiedMatching MONDO:0011216 hemochromatosis type 2A skos:exactMatch OMIM:602390 hemochromatosis, iia 2a semapv:UnspecifiedMatching MONDO:0011217 desmosterolosis skos:exactMatch OMIM:602398 desmosterolosis semapv:UnspecifiedMatching MONDO:0011217 desmosterolosis skos:exactMatch Orphanet:35107 Desmosterolosis semapv:UnspecifiedMatching MONDO:0011217 desmosterolosis skos:exactMatch SCTID:709490002 semapv:UnspecifiedMatching MONDO:0011217 desmosterolosis skos:exactMatch UMLS:C1865596 semapv:UnspecifiedMatching MONDO:0011217 desmosterolosis skos:exactMatch mesh:C566555 semapv:UnspecifiedMatching MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:exactMatch DOID:0060720 autosomal recessive congenital ichthyosis 11 semapv:UnspecifiedMatching MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:exactMatch OMIM:602400 ichthyosis, congenital, autosomal recessive 11 semapv:UnspecifiedMatching MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:exactMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:UnspecifiedMatching MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:exactMatch UMLS:C1835851 semapv:UnspecifiedMatching MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:exactMatch mesh:C536273 semapv:UnspecifiedMatching MONDO:0011219 Fried's tooth and nail syndrome skos:exactMatch DOID:0111661 ectodermal dysplasia 8 semapv:UnspecifiedMatching MONDO:0011219 Fried's tooth and nail syndrome skos:exactMatch OMIM:602401 ectodermal dysplasia 8, hair/tooth/nail iia semapv:UnspecifiedMatching MONDO:0011219 Fried's tooth and nail syndrome skos:exactMatch Orphanet:99672 Fried's tooth and nail syndrome semapv:UnspecifiedMatching MONDO:0011219 Fried's tooth and nail syndrome skos:exactMatch SCTID:239020008 semapv:UnspecifiedMatching MONDO:0011219 Fried's tooth and nail syndrome skos:exactMatch UMLS:C3551424 semapv:UnspecifiedMatching MONDO:0011220 parkinson disease 3, autosomal dominant skos:exactMatch DOID:0111250 Parkinson's disease 3 semapv:UnspecifiedMatching MONDO:0011220 parkinson disease 3, autosomal dominant skos:exactMatch OMIM:602404 parkinson disease 3, autosomal dominant semapv:UnspecifiedMatching MONDO:0011220 parkinson disease 3, autosomal dominant skos:exactMatch UMLS:C1865581 semapv:UnspecifiedMatching MONDO:0011220 parkinson disease 3, autosomal dominant skos:exactMatch mesh:C566552 semapv:UnspecifiedMatching MONDO:0011221 Weyers ulnar ray/oligodactyly syndrome skos:exactMatch OMIM:602418 weyers ulnar ray/oligodactyly syndrome semapv:UnspecifiedMatching MONDO:0011221 Weyers ulnar ray/oligodactyly syndrome skos:exactMatch UMLS:C1865566 semapv:UnspecifiedMatching MONDO:0011221 Weyers ulnar ray/oligodactyly syndrome skos:exactMatch mesh:C536696 semapv:UnspecifiedMatching MONDO:0011222 obsolete glaucoma 1, open angle, D skos:exactMatch OMIM:602429 glaucoma 1, open angle, d semapv:UnspecifiedMatching MONDO:0011222 obsolete glaucoma 1, open angle, D skos:exactMatch UMLS:C1865427 semapv:UnspecifiedMatching MONDO:0011222 obsolete glaucoma 1, open angle, D skos:exactMatch mesh:C566551 semapv:UnspecifiedMatching MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:exactMatch DOID:0060196 amyotrophic lateral sclerosis type 4 semapv:UnspecifiedMatching MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:exactMatch OMIM:602433 amyotrophic lateral sclerosis 4, juvenile semapv:UnspecifiedMatching MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:exactMatch Orphanet:357043 Amyotrophic lateral sclerosis type 4 semapv:UnspecifiedMatching MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:exactMatch UMLS:C1865409 semapv:UnspecifiedMatching MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:exactMatch mesh:C566550 semapv:UnspecifiedMatching MONDO:0011224 monomelic amyotrophy skos:exactMatch OMIM:602440 amyotrophy, monomelic semapv:UnspecifiedMatching MONDO:0011224 monomelic amyotrophy skos:exactMatch Orphanet:65684 Monomelic amyotrophy semapv:UnspecifiedMatching MONDO:0011224 monomelic amyotrophy skos:exactMatch UMLS:C1865384 semapv:UnspecifiedMatching MONDO:0011224 monomelic amyotrophy skos:exactMatch mesh:C538253 semapv:UnspecifiedMatching MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:exactMatch DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:UnspecifiedMatching MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:exactMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:UnspecifiedMatching MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:exactMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:UnspecifiedMatching MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:exactMatch SCTID:715982006 semapv:UnspecifiedMatching MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:exactMatch DOID:0110546 autosomal dominant nonsyndromic deafness 15 semapv:UnspecifiedMatching MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:exactMatch OMIM:602459 deafness, autosomal dominant 15 semapv:UnspecifiedMatching MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:exactMatch UMLS:C1865366 semapv:UnspecifiedMatching MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:exactMatch mesh:C566545 semapv:UnspecifiedMatching MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:exactMatch OMIM:602471 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities semapv:UnspecifiedMatching MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:exactMatch Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:UnspecifiedMatching MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:exactMatch SCTID:417081007 semapv:UnspecifiedMatching MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:exactMatch UMLS:C1865361 semapv:UnspecifiedMatching MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:exactMatch mesh:C566544 semapv:UnspecifiedMatching MONDO:0011228 creases, infra-auricular cutaneous, with tall stature and advanced bone age skos:exactMatch OMIM:602472 creases, infra-auricular cutaneous, with tall stature and advanced bone age semapv:UnspecifiedMatching MONDO:0011228 creases, infra-auricular cutaneous, with tall stature and advanced bone age skos:exactMatch UMLS:C1865360 semapv:UnspecifiedMatching MONDO:0011228 creases, infra-auricular cutaneous, with tall stature and advanced bone age skos:exactMatch mesh:C566543 semapv:UnspecifiedMatching MONDO:0011229 ethylmalonic encephalopathy skos:exactMatch DOID:0060640 ethylmalonic encephalopathy semapv:UnspecifiedMatching MONDO:0011229 ethylmalonic encephalopathy skos:exactMatch OMIM:602473 encephalopathy, ethylmalonic semapv:UnspecifiedMatching MONDO:0011229 ethylmalonic encephalopathy skos:exactMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:UnspecifiedMatching MONDO:0011229 ethylmalonic encephalopathy skos:exactMatch SCTID:723307008 semapv:UnspecifiedMatching MONDO:0011229 ethylmalonic encephalopathy skos:exactMatch UMLS:C1865349 semapv:UnspecifiedMatching MONDO:0011229 ethylmalonic encephalopathy skos:exactMatch mesh:C535737 semapv:UnspecifiedMatching MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch DOID:0060887 ossification of the posterior longitudinal ligament of spine semapv:UnspecifiedMatching MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch NCIT:C84975 Ossification of Posterior Longitudinal Ligament semapv:UnspecifiedMatching MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch OMIM:602475 ossification of the posterior longitudinal ligament of spine semapv:UnspecifiedMatching MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch SCTID:90448008 semapv:UnspecifiedMatching MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch UMLS:C1865343 semapv:UnspecifiedMatching MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch mesh:C537143 semapv:UnspecifiedMatching MONDO:0011231 febrile seizures, familial, 2 skos:exactMatch DOID:0111310 familial febrile seizures 2 semapv:UnspecifiedMatching MONDO:0011231 febrile seizures, familial, 2 skos:exactMatch UMLS:C1865342 semapv:UnspecifiedMatching MONDO:0011231 febrile seizures, familial, 2 skos:exactMatch mesh:C566541 semapv:UnspecifiedMatching MONDO:0011232 migraine, familial hemiplegic, 2 skos:exactMatch DOID:0111182 familial hemiplegic migraine 2 semapv:UnspecifiedMatching MONDO:0011232 migraine, familial hemiplegic, 2 skos:exactMatch OMIM:602481 migraine, familial hemiplegic, 2 semapv:UnspecifiedMatching MONDO:0011232 migraine, familial hemiplegic, 2 skos:exactMatch UMLS:C1865322 semapv:UnspecifiedMatching MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:exactMatch DOID:0110122 Axenfeld-Rieger syndrome type 3 semapv:UnspecifiedMatching MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:exactMatch OMIM:602482 axenfeld-rieger syndrome, iia 3 semapv:UnspecifiedMatching MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:exactMatch SCTID:22155002 semapv:UnspecifiedMatching MONDO:0011234 auriculocondylar syndrome 1 skos:exactMatch OMIM:602483 auriculocondylar syndrome 1 semapv:UnspecifiedMatching MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:exactMatch OMIM:602484 pelvic hypoplasia with lower-limb arthrogryposis semapv:UnspecifiedMatching MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:exactMatch Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:UnspecifiedMatching MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:exactMatch UMLS:C1865294 semapv:UnspecifiedMatching MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:exactMatch DOID:0070216 familial hyperinsulinemic hypoglycemia 3 semapv:UnspecifiedMatching MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:exactMatch OMIM:602485 hyperinsulinemic hypoglycemia, familial, 3 semapv:UnspecifiedMatching MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:exactMatch Orphanet:79299 Congenital glucokinase-related hyperinsulinism semapv:UnspecifiedMatching MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:exactMatch SCTID:717182006 semapv:UnspecifiedMatching MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:exactMatch mesh:C538374 semapv:UnspecifiedMatching MONDO:0011237 hyperlipidemia, combined, 1 skos:exactMatch OMIM:602491 hyperlipidemia, familial combined, 1 semapv:UnspecifiedMatching MONDO:0011237 hyperlipidemia, combined, 1 skos:exactMatch UMLS:C1865289 semapv:UnspecifiedMatching MONDO:0011237 hyperlipidemia, combined, 1 skos:exactMatch mesh:C566535 semapv:UnspecifiedMatching MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:exactMatch OMIM:602497 chondrodysplasia punctata, brachytelephalangic, autosomal semapv:UnspecifiedMatching MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:exactMatch UMLS:C1844853 semapv:UnspecifiedMatching MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:exactMatch OMIM:602499 macrophthalmia, colobomatous, with microcornea semapv:UnspecifiedMatching MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:exactMatch Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome semapv:UnspecifiedMatching MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:exactMatch UMLS:C1865286 semapv:UnspecifiedMatching MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:exactMatch mesh:C566533 semapv:UnspecifiedMatching MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:UnspecifiedMatching MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:UnspecifiedMatching MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch SCTID:703370002 semapv:UnspecifiedMatching MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch UMLS:C1865285 semapv:UnspecifiedMatching MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch mesh:C536142 semapv:UnspecifiedMatching MONDO:0011241 pseudoacromegaly with severe insulin resistance skos:exactMatch OMIM:602511 pseudoacromegaly with severe insulin resistance semapv:UnspecifiedMatching MONDO:0011241 pseudoacromegaly with severe insulin resistance skos:exactMatch UMLS:C1865284 semapv:UnspecifiedMatching MONDO:0011241 pseudoacromegaly with severe insulin resistance skos:exactMatch mesh:C566531 semapv:UnspecifiedMatching MONDO:0011242 Bartter disease type 4A skos:exactMatch DOID:0110145 Bartter disease type 4a semapv:UnspecifiedMatching MONDO:0011242 Bartter disease type 4A skos:exactMatch OMIM:602522 bartter syndrome, iia 4a, neonatal, with sensorineural deafness semapv:UnspecifiedMatching MONDO:0011242 Bartter disease type 4A skos:exactMatch SCTID:717791000 semapv:UnspecifiedMatching MONDO:0011242 Bartter disease type 4A skos:exactMatch UMLS:C1865270 semapv:UnspecifiedMatching MONDO:0011243 grange syndrome skos:exactMatch OMIM:602531 grange syndrome semapv:UnspecifiedMatching MONDO:0011243 grange syndrome skos:exactMatch Orphanet:79094 Grange syndrome semapv:UnspecifiedMatching MONDO:0011243 grange syndrome skos:exactMatch SCTID:717824007 semapv:UnspecifiedMatching MONDO:0011243 grange syndrome skos:exactMatch UMLS:C1865267 semapv:UnspecifiedMatching MONDO:0011243 grange syndrome skos:exactMatch mesh:C566529 semapv:UnspecifiedMatching MONDO:0011244 Marshall-Smith syndrome skos:exactMatch DOID:0050858 Marshall-Smith syndrome semapv:UnspecifiedMatching MONDO:0011244 Marshall-Smith syndrome skos:exactMatch OMIM:602535 marshall-smith syndrome semapv:UnspecifiedMatching MONDO:0011244 Marshall-Smith syndrome skos:exactMatch Orphanet:561 Marshall-Smith syndrome semapv:UnspecifiedMatching MONDO:0011244 Marshall-Smith syndrome skos:exactMatch SCTID:73284007 semapv:UnspecifiedMatching MONDO:0011244 Marshall-Smith syndrome skos:exactMatch UMLS:C0265211 semapv:UnspecifiedMatching MONDO:0011244 Marshall-Smith syndrome skos:exactMatch mesh:C536026 semapv:UnspecifiedMatching MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:exactMatch OMIM:602540 ichthyosis, hystrix-like, with deafness semapv:UnspecifiedMatching MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:exactMatch UMLS:C1865234 semapv:UnspecifiedMatching MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:exactMatch mesh:C566528 semapv:UnspecifiedMatching MONDO:0011246 megaconial type congenital muscular dystrophy skos:exactMatch DOID:0110632 megaconial type congenital muscular dystrophy semapv:UnspecifiedMatching MONDO:0011246 megaconial type congenital muscular dystrophy skos:exactMatch OMIM:602541 muscular dystrophy, congenital, megaconial iia semapv:UnspecifiedMatching MONDO:0011246 megaconial type congenital muscular dystrophy skos:exactMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:UnspecifiedMatching MONDO:0011246 megaconial type congenital muscular dystrophy skos:exactMatch UMLS:C1865233 semapv:UnspecifiedMatching MONDO:0011246 megaconial type congenital muscular dystrophy skos:exactMatch mesh:C566527 semapv:UnspecifiedMatching MONDO:0011247 jejunal atresia with renal adysplasia skos:exactMatch OMIM:602551 jejunal atresia with renal adysplasia semapv:UnspecifiedMatching MONDO:0011247 jejunal atresia with renal adysplasia skos:exactMatch UMLS:C1865209 semapv:UnspecifiedMatching MONDO:0011247 jejunal atresia with renal adysplasia skos:exactMatch mesh:C537567 semapv:UnspecifiedMatching MONDO:0011248 distal monosomy 13q skos:exactMatch OMIM:602553 anal atresia, hypospadias, and penoscrotal inversion semapv:UnspecifiedMatching MONDO:0011248 distal monosomy 13q skos:exactMatch Orphanet:1590 Distal deletion 13q semapv:UnspecifiedMatching MONDO:0011248 distal monosomy 13q skos:exactMatch SCTID:763527007 semapv:UnspecifiedMatching MONDO:0011248 distal monosomy 13q skos:exactMatch UMLS:C1865208 semapv:UnspecifiedMatching MONDO:0011248 distal monosomy 13q skos:exactMatch mesh:C566526 semapv:UnspecifiedMatching MONDO:0011249 torsion dystonia with onset in infancy skos:exactMatch DOID:0090058 torsion dystonia with onset in infancy semapv:UnspecifiedMatching MONDO:0011249 torsion dystonia with onset in infancy skos:exactMatch OMIM:602554 torsion dystonia with onset 1n infancy semapv:UnspecifiedMatching MONDO:0011249 torsion dystonia with onset in infancy skos:exactMatch UMLS:C1865205 semapv:UnspecifiedMatching MONDO:0011249 torsion dystonia with onset in infancy skos:exactMatch mesh:C536969 semapv:UnspecifiedMatching MONDO:0011250 microcephaly, macrotia, and intellectual disability skos:exactMatch OMIM:602555 microcephaly, macrotia, and mental retardation semapv:UnspecifiedMatching MONDO:0011250 microcephaly, macrotia, and intellectual disability skos:exactMatch UMLS:C1865204 semapv:UnspecifiedMatching MONDO:0011250 microcephaly, macrotia, and intellectual disability skos:exactMatch mesh:C566525 semapv:UnspecifiedMatching MONDO:0011251 facial dysmorphism, cleft palate, hearing loss, and camptodactyly skos:exactMatch OMIM:602556 facial dysmorphism, cleft palate, hearing loss, and camptodactyly semapv:UnspecifiedMatching MONDO:0011251 facial dysmorphism, cleft palate, hearing loss, and camptodactyly skos:exactMatch UMLS:C1865203 semapv:UnspecifiedMatching MONDO:0011251 facial dysmorphism, cleft palate, hearing loss, and camptodactyly skos:exactMatch mesh:C566524 semapv:UnspecifiedMatching MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:exactMatch OMIM:602557 spondyloepimetaphyseal dysplasia, shohat iia semapv:UnspecifiedMatching MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:exactMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:UnspecifiedMatching MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:exactMatch SCTID:719201004 semapv:UnspecifiedMatching MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:exactMatch UMLS:C1865185 semapv:UnspecifiedMatching MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:exactMatch mesh:C566523 semapv:UnspecifiedMatching MONDO:0011253 craniomicromelic syndrome skos:exactMatch OMIM:602558 craniomicromelic syndrome semapv:UnspecifiedMatching MONDO:0011253 craniomicromelic syndrome skos:exactMatch Orphanet:1524 Craniomicromelic syndrome semapv:UnspecifiedMatching MONDO:0011253 craniomicromelic syndrome skos:exactMatch SCTID:725098001 semapv:UnspecifiedMatching MONDO:0011253 craniomicromelic syndrome skos:exactMatch UMLS:C1865184 semapv:UnspecifiedMatching MONDO:0011253 craniomicromelic syndrome skos:exactMatch mesh:C566522 semapv:UnspecifiedMatching MONDO:0011254 brachydactyly, intraventricular septal defect, and deafness skos:exactMatch OMIM:602561 brachydactyly, intraventricular septal defect, and deafness semapv:UnspecifiedMatching MONDO:0011254 brachydactyly, intraventricular septal defect, and deafness skos:exactMatch UMLS:C1865182 semapv:UnspecifiedMatching MONDO:0011254 brachydactyly, intraventricular septal defect, and deafness skos:exactMatch mesh:C566521 semapv:UnspecifiedMatching MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:exactMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:UnspecifiedMatching MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:exactMatch Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome semapv:UnspecifiedMatching MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:exactMatch UMLS:C1865181 semapv:UnspecifiedMatching MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:exactMatch mesh:C566520 semapv:UnspecifiedMatching MONDO:0011256 emphysema, congenital, with deafness, penoscrotal web, and intellectual disability skos:exactMatch OMIM:602564 emphysema, congenital, with deafness, penoscrotal web, and mental retardation semapv:UnspecifiedMatching MONDO:0011256 emphysema, congenital, with deafness, penoscrotal web, and intellectual disability skos:exactMatch UMLS:C1865180 semapv:UnspecifiedMatching MONDO:0011256 emphysema, congenital, with deafness, penoscrotal web, and intellectual disability skos:exactMatch mesh:C566519 semapv:UnspecifiedMatching MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch DOID:0080554 congenital disorder of glycosylation Ib semapv:UnspecifiedMatching MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:UnspecifiedMatching MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch Orphanet:79319 MPI-CDG semapv:UnspecifiedMatching MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch SCTID:124668009 semapv:UnspecifiedMatching MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch mesh:C535740 semapv:UnspecifiedMatching MONDO:0011258 branchiootic syndrome 1 skos:exactMatch OMIM:602588 branchiootic syndrome 1 semapv:UnspecifiedMatching MONDO:0011258 branchiootic syndrome 1 skos:exactMatch UMLS:C1865143 semapv:UnspecifiedMatching MONDO:0011259 retinitis pigmentosa 22 skos:exactMatch DOID:0110400 retinitis pigmentosa 22 semapv:UnspecifiedMatching MONDO:0011259 retinitis pigmentosa 22 skos:exactMatch OMIM:602594 retinitis pigmentosa 22 semapv:UnspecifiedMatching MONDO:0011259 retinitis pigmentosa 22 skos:exactMatch UMLS:C3887981 semapv:UnspecifiedMatching MONDO:0011260 pancreatic lymphoma, familial skos:exactMatch OMIM:602596 pancreatic lymphoma, familial semapv:UnspecifiedMatching MONDO:0011260 pancreatic lymphoma, familial skos:exactMatch UMLS:C1865139 semapv:UnspecifiedMatching MONDO:0011260 pancreatic lymphoma, familial skos:exactMatch mesh:C566516 semapv:UnspecifiedMatching MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:exactMatch DOID:0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability semapv:UnspecifiedMatching MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:exactMatch OMIM:602611 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation semapv:UnspecifiedMatching MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:exactMatch Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:exactMatch SCTID:718766002 semapv:UnspecifiedMatching MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:exactMatch mesh:C566515 semapv:UnspecifiedMatching MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:exactMatch OMIM:602612 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye semapv:UnspecifiedMatching MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:exactMatch Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome semapv:UnspecifiedMatching MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:exactMatch SCTID:715986009 semapv:UnspecifiedMatching MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:exactMatch UMLS:C1865133 semapv:UnspecifiedMatching MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:exactMatch mesh:C535876 semapv:UnspecifiedMatching MONDO:0011263 skeletal dysplasia and progressive central nervous system degeneration, lethal skos:exactMatch OMIM:602613 skeletal dysplasia and progressive central nervous system degeneration, lethal semapv:UnspecifiedMatching MONDO:0011263 skeletal dysplasia and progressive central nervous system degeneration, lethal skos:exactMatch UMLS:C1865117 semapv:UnspecifiedMatching MONDO:0011263 skeletal dysplasia and progressive central nervous system degeneration, lethal skos:exactMatch mesh:C566514 semapv:UnspecifiedMatching MONDO:0011264 torsion dystonia 6 skos:exactMatch DOID:0090039 torsion dystonia 6 semapv:UnspecifiedMatching MONDO:0011264 torsion dystonia 6 skos:exactMatch NCIT:C156361 Torsion Dystonia 6 semapv:UnspecifiedMatching MONDO:0011264 torsion dystonia 6 skos:exactMatch OMIM:602629 dystonia 6, torsion semapv:UnspecifiedMatching MONDO:0011264 torsion dystonia 6 skos:exactMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:UnspecifiedMatching MONDO:0011264 torsion dystonia 6 skos:exactMatch SCTID:702448007 semapv:UnspecifiedMatching MONDO:0011264 torsion dystonia 6 skos:exactMatch UMLS:C1414216 semapv:UnspecifiedMatching MONDO:0011264 torsion dystonia 6 skos:exactMatch mesh:C538003 semapv:UnspecifiedMatching MONDO:0011265 tooth agenesis, selective, 2 skos:exactMatch OMIM:602639 tooth agenesis, selective, 2 semapv:UnspecifiedMatching MONDO:0011265 tooth agenesis, selective, 2 skos:exactMatch UMLS:C1865092 semapv:UnspecifiedMatching MONDO:0011265 tooth agenesis, selective, 2 skos:exactMatch mesh:C566513 semapv:UnspecifiedMatching MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch DOID:0050759 myotonic dystrophy type 2 semapv:UnspecifiedMatching MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch NCIT:C84680 Dystrophia Myotonica 2 semapv:UnspecifiedMatching MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch OMIM:602668 myotonic dystrophy 2 semapv:UnspecifiedMatching MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch Orphanet:606 Proximal myotonic myopathy semapv:UnspecifiedMatching MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:exactMatch OMIM:602685 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration semapv:UnspecifiedMatching MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:exactMatch UMLS:C1864549 semapv:UnspecifiedMatching MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:exactMatch mesh:C566429 semapv:UnspecifiedMatching MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch OMIM:602722 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss semapv:UnspecifiedMatching MONDO:0011269 psoriasis 2 skos:exactMatch DOID:0080475 psoriasis 2 semapv:UnspecifiedMatching MONDO:0011269 psoriasis 2 skos:exactMatch OMIM:602723 psoriasis 2 semapv:UnspecifiedMatching MONDO:0011269 psoriasis 2 skos:exactMatch UMLS:C1864497 semapv:UnspecifiedMatching MONDO:0011270 prostate cancer, hereditary, 8 skos:exactMatch OMIM:602759 prostate cancer, hereditary, 8 semapv:UnspecifiedMatching MONDO:0011270 prostate cancer, hereditary, 8 skos:exactMatch UMLS:C1864472 semapv:UnspecifiedMatching MONDO:0011270 prostate cancer, hereditary, 8 skos:exactMatch mesh:C566426 semapv:UnspecifiedMatching MONDO:0011271 rigid spine muscular dystrophy 1 skos:exactMatch DOID:0110633 rigid spine muscular dystrophy 1 semapv:UnspecifiedMatching MONDO:0011271 rigid spine muscular dystrophy 1 skos:exactMatch NCIT:C126691 Rigid Spine Muscular Dystrophy 1 semapv:UnspecifiedMatching MONDO:0011271 rigid spine muscular dystrophy 1 skos:exactMatch OMIM:602771 congenital myopathy 3 with rigid spine semapv:UnspecifiedMatching MONDO:0011271 rigid spine muscular dystrophy 1 skos:exactMatch SCTID:240063002 semapv:UnspecifiedMatching MONDO:0011271 rigid spine muscular dystrophy 1 skos:exactMatch UMLS:C0410180 semapv:UnspecifiedMatching MONDO:0011272 retinitis pigmentosa 25 skos:exactMatch DOID:0110384 retinitis pigmentosa 25 semapv:UnspecifiedMatching MONDO:0011272 retinitis pigmentosa 25 skos:exactMatch OMIM:602772 retinitis pigmentosa 25 semapv:UnspecifiedMatching MONDO:0011272 retinitis pigmentosa 25 skos:exactMatch UMLS:C1864446 semapv:UnspecifiedMatching MONDO:0011272 retinitis pigmentosa 25 skos:exactMatch mesh:C566425 semapv:UnspecifiedMatching MONDO:0011273 H syndrome skos:exactMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:UnspecifiedMatching MONDO:0011273 H syndrome skos:exactMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:UnspecifiedMatching MONDO:0011273 H syndrome skos:exactMatch Orphanet:168569 H syndrome semapv:UnspecifiedMatching MONDO:0011273 H syndrome skos:exactMatch SCTID:711159002 semapv:UnspecifiedMatching MONDO:0011273 H syndrome skos:exactMatch UMLS:C1864445 semapv:UnspecifiedMatching MONDO:0011273 H syndrome skos:exactMatch mesh:C535391 semapv:UnspecifiedMatching MONDO:0011273 H syndrome skos:exactMatch mesh:C538322 semapv:UnspecifiedMatching MONDO:0011274 Muenke syndrome skos:exactMatch DOID:0060703 Muenke Syndrome semapv:UnspecifiedMatching MONDO:0011274 Muenke syndrome skos:exactMatch NCIT:C84904 Muenke Syndrome semapv:UnspecifiedMatching MONDO:0011274 Muenke syndrome skos:exactMatch OMIM:602849 muenke syndrome semapv:UnspecifiedMatching MONDO:0011274 Muenke syndrome skos:exactMatch Orphanet:53271 Muenke syndrome semapv:UnspecifiedMatching MONDO:0011274 Muenke syndrome skos:exactMatch SCTID:440350001 semapv:UnspecifiedMatching MONDO:0011274 Muenke syndrome skos:exactMatch UMLS:C1864436 semapv:UnspecifiedMatching MONDO:0011274 Muenke syndrome skos:exactMatch mesh:C537369 semapv:UnspecifiedMatching MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:exactMatch DOID:0080050 acromesomelic dysplasia, Maroteaux type semapv:UnspecifiedMatching MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:exactMatch OMIM:602875 acromesomelic dysplasia 1 semapv:UnspecifiedMatching MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:exactMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:UnspecifiedMatching MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:exactMatch SCTID:718559000 semapv:UnspecifiedMatching MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:exactMatch mesh:C535661 semapv:UnspecifiedMatching MONDO:0011276 orofacial cleft 2 skos:exactMatch DOID:0080396 orofacial cleft 2 semapv:UnspecifiedMatching MONDO:0011276 orofacial cleft 2 skos:exactMatch OMIM:602966 orofacial cleft 2 semapv:UnspecifiedMatching MONDO:0011276 orofacial cleft 2 skos:exactMatch UMLS:C1864323 semapv:UnspecifiedMatching MONDO:0011276 orofacial cleft 2 skos:exactMatch mesh:C566419 semapv:UnspecifiedMatching MONDO:0011277 obsolete leukoregulin skos:exactMatch OMIM:602994 leukoregulin semapv:UnspecifiedMatching MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:exactMatch DOID:0110472 autosomal recessive nonsyndromic deafness 17 semapv:UnspecifiedMatching MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:exactMatch OMIM:603010 deafness, autosomal recessive 17 semapv:UnspecifiedMatching MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:exactMatch UMLS:C1864276 semapv:UnspecifiedMatching MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:exactMatch mesh:C566418 semapv:UnspecifiedMatching MONDO:0011280 schizophrenia 6 skos:exactMatch DOID:0070082 schizophrenia 6 semapv:UnspecifiedMatching MONDO:0011280 schizophrenia 6 skos:exactMatch OMIM:603013 schizophrenia 6 semapv:UnspecifiedMatching MONDO:0011280 schizophrenia 6 skos:exactMatch UMLS:C1864275 semapv:UnspecifiedMatching MONDO:0011281 congenital myasthenic syndrome 5 skos:exactMatch DOID:0110667 congenital myasthenic syndrome 5 semapv:UnspecifiedMatching MONDO:0011281 congenital myasthenic syndrome 5 skos:exactMatch NCIT:C129304 Congenital Myasthenic Syndrome 5 semapv:UnspecifiedMatching MONDO:0011281 congenital myasthenic syndrome 5 skos:exactMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:UnspecifiedMatching MONDO:0011281 congenital myasthenic syndrome 5 skos:exactMatch UMLS:C1864233 semapv:UnspecifiedMatching MONDO:0011281 congenital myasthenic syndrome 5 skos:exactMatch mesh:C566415 semapv:UnspecifiedMatching MONDO:0011282 tumor suppressor gene on chromosome 11 skos:exactMatch OMIM:603040 tumor suppressor gene on chromosome 11 semapv:UnspecifiedMatching MONDO:0011282 tumor suppressor gene on chromosome 11 skos:exactMatch UMLS:C1864232 semapv:UnspecifiedMatching MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:exactMatch DOID:0080119 mitochondrial DNA depletion syndrome 1 semapv:UnspecifiedMatching MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:exactMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:UnspecifiedMatching MONDO:0011284 astigmatism skos:exactMatch DOID:11782 astigmatism semapv:UnspecifiedMatching MONDO:0011284 astigmatism skos:exactMatch OMIM:603047 astigmatism semapv:UnspecifiedMatching MONDO:0011284 astigmatism skos:exactMatch SCTID:82649003 semapv:UnspecifiedMatching MONDO:0011284 astigmatism skos:exactMatch UMLS:C0004106 semapv:UnspecifiedMatching MONDO:0011284 astigmatism skos:exactMatch mesh:D001251 semapv:UnspecifiedMatching MONDO:0011285 age related macular degeneration 1 skos:exactMatch DOID:0110014 age related macular degeneration 1 semapv:UnspecifiedMatching MONDO:0011285 age related macular degeneration 1 skos:exactMatch OMIM:603075 macular degeneration, age-related, 1 semapv:UnspecifiedMatching MONDO:0011285 age related macular degeneration 1 skos:exactMatch UMLS:C1864205 semapv:UnspecifiedMatching MONDO:0011285 age related macular degeneration 1 skos:exactMatch mesh:C566411 semapv:UnspecifiedMatching MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:exactMatch DOID:0110468 autosomal recessive nonsyndromic deafness 13 semapv:UnspecifiedMatching MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:exactMatch OMIM:603098 deafness, autosomal recessive 13 semapv:UnspecifiedMatching MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:exactMatch UMLS:C1864199 semapv:UnspecifiedMatching MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:exactMatch mesh:C566410 semapv:UnspecifiedMatching MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:exactMatch OMIM:603116 cdags syndrome semapv:UnspecifiedMatching MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:exactMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:UnspecifiedMatching MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:exactMatch SCTID:720812002 semapv:UnspecifiedMatching MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:exactMatch mesh:C536789 semapv:UnspecifiedMatching MONDO:0011288 spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal skos:exactMatch OMIM:603117 spastic paraplegia, optic atrophy, microcephaly, and 10y sex reversal semapv:UnspecifiedMatching MONDO:0011288 spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal skos:exactMatch UMLS:C1864185 semapv:UnspecifiedMatching MONDO:0011288 spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal skos:exactMatch mesh:C566409 semapv:UnspecifiedMatching MONDO:0011289 apraxia of eyelid opening skos:exactMatch OMIM:603119 apraxia of eyelid opening semapv:UnspecifiedMatching MONDO:0011290 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability skos:exactMatch OMIM:603133 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation semapv:UnspecifiedMatching MONDO:0011290 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability skos:exactMatch UMLS:C1864183 semapv:UnspecifiedMatching MONDO:0011290 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability skos:exactMatch mesh:C566408 semapv:UnspecifiedMatching MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch DOID:0080555 congenital disorder of glycosylation Ic semapv:UnspecifiedMatching MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch NCIT:C126869 Congenital Disorder of Glycosylation Type Ic semapv:UnspecifiedMatching MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch OMIM:603147 congenital disorder of glycosylation, iia ic semapv:UnspecifiedMatching MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch Orphanet:79320 ALG6-CDG semapv:UnspecifiedMatching MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch SCTID:709412006 semapv:UnspecifiedMatching MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch UMLS:C2930997 semapv:UnspecifiedMatching MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch mesh:C535741 semapv:UnspecifiedMatching MONDO:0011292 dermatitis, atopic skos:exactMatch OMIM:603165 dermatitis, atopic semapv:UnspecifiedMatching MONDO:0011292 dermatitis, atopic skos:exactMatch mesh:D003876 semapv:UnspecifiedMatching MONDO:0011294 schizophrenia 5 skos:exactMatch DOID:0070081 schizophrenia 5 semapv:UnspecifiedMatching MONDO:0011294 schizophrenia 5 skos:exactMatch OMIM:603175 schizophrenia 5 semapv:UnspecifiedMatching MONDO:0011294 schizophrenia 5 skos:exactMatch UMLS:C1864153 semapv:UnspecifiedMatching MONDO:0011295 schizophrenia 7 skos:exactMatch DOID:0070083 schizophrenia 7 semapv:UnspecifiedMatching MONDO:0011295 schizophrenia 7 skos:exactMatch OMIM:603176 schizophrenia 7 semapv:UnspecifiedMatching MONDO:0011296 Meckel syndrome, type 2 skos:exactMatch DOID:0070116 Meckel syndrome 2 semapv:UnspecifiedMatching MONDO:0011296 Meckel syndrome, type 2 skos:exactMatch OMIM:603194 meckel syndrome, iia 2 semapv:UnspecifiedMatching MONDO:0011296 Meckel syndrome, type 2 skos:exactMatch UMLS:C1864148 semapv:UnspecifiedMatching MONDO:0011296 Meckel syndrome, type 2 skos:exactMatch mesh:C536131 semapv:UnspecifiedMatching MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:exactMatch DOID:0060683 autosomal dominant nocturnal frontal lobe epilepsy 2 semapv:UnspecifiedMatching MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:exactMatch OMIM:603204 epilepsy, nocturnal frontal lobe, 2 semapv:UnspecifiedMatching MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:exactMatch UMLS:C1864125 semapv:UnspecifiedMatching MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:exactMatch mesh:C566400 semapv:UnspecifiedMatching MONDO:0011298 schizophrenia 8 skos:exactMatch DOID:0070084 schizophrenia 8 semapv:UnspecifiedMatching MONDO:0011298 schizophrenia 8 skos:exactMatch OMIM:603206 schizophrenia 8 semapv:UnspecifiedMatching MONDO:0011298 schizophrenia 8 skos:exactMatch UMLS:C1864124 semapv:UnspecifiedMatching MONDO:0011299 Huntington disease-like 1 skos:exactMatch DOID:0090103 Huntington's disease-like 1 semapv:UnspecifiedMatching MONDO:0011299 Huntington disease-like 1 skos:exactMatch OMIM:603218 huntington disease-like 1 semapv:UnspecifiedMatching MONDO:0011299 Huntington disease-like 1 skos:exactMatch Orphanet:157941 Huntington disease-like 1 semapv:UnspecifiedMatching MONDO:0011299 Huntington disease-like 1 skos:exactMatch UMLS:C1864112 semapv:UnspecifiedMatching MONDO:0011299 Huntington disease-like 1 skos:exactMatch mesh:C566398 semapv:UnspecifiedMatching MONDO:0011300 myopia 3, autosomal dominant skos:exactMatch OMIM:603221 myopia 3, autosomal dominant semapv:UnspecifiedMatching MONDO:0011300 myopia 3, autosomal dominant skos:exactMatch UMLS:C1864111 semapv:UnspecifiedMatching MONDO:0011300 myopia 3, autosomal dominant skos:exactMatch mesh:C566397 semapv:UnspecifiedMatching MONDO:0011301 pseudohypoparathyroidism type 1B skos:exactMatch DOID:0080222 pseudohypoparathyroidism type IB semapv:UnspecifiedMatching MONDO:0011301 pseudohypoparathyroidism type 1B skos:exactMatch OMIM:603233 pseudohypoparathyroidism, iia 1b semapv:UnspecifiedMatching MONDO:0011301 pseudohypoparathyroidism type 1B skos:exactMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:UnspecifiedMatching MONDO:0011301 pseudohypoparathyroidism type 1B skos:exactMatch UMLS:C1864100 semapv:UnspecifiedMatching MONDO:0011301 pseudohypoparathyroidism type 1B skos:exactMatch mesh:C548075 semapv:UnspecifiedMatching MONDO:0011302 type 1 diabetes mellitus 17 skos:exactMatch DOID:0110754 type 1 diabetes mellitus 17 semapv:UnspecifiedMatching MONDO:0011302 type 1 diabetes mellitus 17 skos:exactMatch OMIM:603266 iia 1 diabetes mellitus 17 semapv:UnspecifiedMatching MONDO:0011302 type 1 diabetes mellitus 17 skos:exactMatch UMLS:C1864068 semapv:UnspecifiedMatching MONDO:0011302 type 1 diabetes mellitus 17 skos:exactMatch mesh:C566395 semapv:UnspecifiedMatching MONDO:0011303 focal segmental glomerulosclerosis 1 skos:exactMatch DOID:0111128 focal segmental glomerulosclerosis 1 semapv:UnspecifiedMatching MONDO:0011303 focal segmental glomerulosclerosis 1 skos:exactMatch OMIM:603278 focal segmental glomerulosclerosis 1 semapv:UnspecifiedMatching MONDO:0011303 focal segmental glomerulosclerosis 1 skos:exactMatch mesh:C538457 semapv:UnspecifiedMatching MONDO:0011304 cerebral cavernous malformation 2 skos:exactMatch DOID:0060670 cerebral cavernous malformation 2 semapv:UnspecifiedMatching MONDO:0011304 cerebral cavernous malformation 2 skos:exactMatch OMIM:603284 cerebral cavernous malformations 2 semapv:UnspecifiedMatching MONDO:0011304 cerebral cavernous malformation 2 skos:exactMatch UMLS:C1864041 semapv:UnspecifiedMatching MONDO:0011304 cerebral cavernous malformation 2 skos:exactMatch mesh:C566394 semapv:UnspecifiedMatching MONDO:0011305 cerebral cavernous malformation 3 skos:exactMatch DOID:0060671 cerebral cavernous malformation 3 semapv:UnspecifiedMatching MONDO:0011305 cerebral cavernous malformation 3 skos:exactMatch OMIM:603285 cerebral cavernous malformations 3 semapv:UnspecifiedMatching MONDO:0011305 cerebral cavernous malformation 3 skos:exactMatch UMLS:C1864040 semapv:UnspecifiedMatching MONDO:0011305 cerebral cavernous malformation 3 skos:exactMatch mesh:C566393 semapv:UnspecifiedMatching MONDO:0011306 muscular dystrophy, congenital, with cerebellar atrophy skos:exactMatch OMIM:603323 muscular dystrophy, congenital, with cerebellar atrophy semapv:UnspecifiedMatching MONDO:0011306 muscular dystrophy, congenital, with cerebellar atrophy skos:exactMatch UMLS:C1864028 semapv:UnspecifiedMatching MONDO:0011306 muscular dystrophy, congenital, with cerebellar atrophy skos:exactMatch mesh:C566392 semapv:UnspecifiedMatching MONDO:0011307 schizophrenia 2 skos:exactMatch DOID:0070078 schizophrenia 2 semapv:UnspecifiedMatching MONDO:0011307 schizophrenia 2 skos:exactMatch OMIM:603342 schizophrenia 2 semapv:UnspecifiedMatching MONDO:0011307 schizophrenia 2 skos:exactMatch UMLS:C1864010 semapv:UnspecifiedMatching MONDO:0011308 GRACILE syndrome skos:exactMatch DOID:0111455 GRACILE syndrome semapv:UnspecifiedMatching MONDO:0011308 GRACILE syndrome skos:exactMatch OMIM:603358 gracile syndrome semapv:UnspecifiedMatching MONDO:0011308 GRACILE syndrome skos:exactMatch Orphanet:53693 GRACILE syndrome semapv:UnspecifiedMatching MONDO:0011308 GRACILE syndrome skos:exactMatch SCTID:703388005 semapv:UnspecifiedMatching MONDO:0011308 GRACILE syndrome skos:exactMatch UMLS:C1864002 semapv:UnspecifiedMatching MONDO:0011308 GRACILE syndrome skos:exactMatch mesh:C537934 semapv:UnspecifiedMatching MONDO:0011309 familial gestational hyperthyroidism skos:exactMatch DOID:0081102 familial gestational hyperthyroidism semapv:UnspecifiedMatching MONDO:0011309 familial gestational hyperthyroidism skos:exactMatch OMIM:603373 hyperthyroidism, familial gestational semapv:UnspecifiedMatching MONDO:0011309 familial gestational hyperthyroidism skos:exactMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:UnspecifiedMatching MONDO:0011309 familial gestational hyperthyroidism skos:exactMatch SCTID:703309000 semapv:UnspecifiedMatching MONDO:0011309 familial gestational hyperthyroidism skos:exactMatch UMLS:C1863959 semapv:UnspecifiedMatching MONDO:0011309 familial gestational hyperthyroidism skos:exactMatch mesh:C566384 semapv:UnspecifiedMatching MONDO:0011310 long chain fatty acids, defect in transport of skos:exactMatch OMIM:603376 long chain fatty acids, defect 1n transport of semapv:UnspecifiedMatching MONDO:0011311 obsolete glaucoma 1, open angle, F skos:exactMatch OMIM:603383 glaucoma 1, open angle, f semapv:UnspecifiedMatching MONDO:0011311 obsolete glaucoma 1, open angle, F skos:exactMatch mesh:C566383 semapv:UnspecifiedMatching MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:exactMatch OMIM:603386 thyroid carcinoma, nonmedullary, with or without cell oxyphilia semapv:UnspecifiedMatching MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:exactMatch UMLS:C1863925 semapv:UnspecifiedMatching MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:exactMatch mesh:C537842 semapv:UnspecifiedMatching MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:exactMatch OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 semapv:UnspecifiedMatching MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:exactMatch mesh:C566381 semapv:UnspecifiedMatching MONDO:0011314 Graves disease, susceptibility to, 2 skos:exactMatch OMIM:603388 graves disease, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011315 Osebold skeletal dysplasia/osteolysis syndrome skos:exactMatch OMIM:603389 osebold skeletal dysplasia/osteolysis syndrome semapv:UnspecifiedMatching MONDO:0011315 Osebold skeletal dysplasia/osteolysis syndrome skos:exactMatch UMLS:C1863922 semapv:UnspecifiedMatching MONDO:0011315 Osebold skeletal dysplasia/osteolysis syndrome skos:exactMatch mesh:C566380 semapv:UnspecifiedMatching MONDO:0011316 osteosclerotic chondrodysplasia, lethal, with intracellular inclusions skos:exactMatch OMIM:603393 osteosclerotic chondrodysplasia, lethal, with intracellular inclusions semapv:UnspecifiedMatching MONDO:0011316 osteosclerotic chondrodysplasia, lethal, with intracellular inclusions skos:exactMatch UMLS:C1863920 semapv:UnspecifiedMatching MONDO:0011316 osteosclerotic chondrodysplasia, lethal, with intracellular inclusions skos:exactMatch mesh:C566378 semapv:UnspecifiedMatching MONDO:0011317 microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects skos:exactMatch OMIM:603394 microcephaly, severe, with skeletal anomalies including posterior rib-gap defects semapv:UnspecifiedMatching MONDO:0011317 microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects skos:exactMatch UMLS:C1863919 semapv:UnspecifiedMatching MONDO:0011317 microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects skos:exactMatch mesh:C566377 semapv:UnspecifiedMatching MONDO:0011318 Tonoki syndrome skos:exactMatch OMIM:603396 tonoki syndrome semapv:UnspecifiedMatching MONDO:0011318 Tonoki syndrome skos:exactMatch UMLS:C1863918 semapv:UnspecifiedMatching MONDO:0011318 Tonoki syndrome skos:exactMatch mesh:C536967 semapv:UnspecifiedMatching MONDO:0011319 obsolete activator of liver function 1 skos:exactMatch OMIM:603416 ribosomal protein l21 pseudogene 1 semapv:UnspecifiedMatching MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:exactMatch OMIM:603438 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation semapv:UnspecifiedMatching MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:exactMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:UnspecifiedMatching MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:exactMatch UMLS:C1863881 semapv:UnspecifiedMatching MONDO:0011321 expansile bone lesions skos:exactMatch OMIM:603439 expansile bone lesions semapv:UnspecifiedMatching MONDO:0011321 expansile bone lesions skos:exactMatch UMLS:C1863880 semapv:UnspecifiedMatching MONDO:0011321 expansile bone lesions skos:exactMatch mesh:C566375 semapv:UnspecifiedMatching MONDO:0011322 Oroacral syndrome, Verloes-Koulischer type skos:exactMatch OMIM:603446 oroacral syndrome, verloes-koulischer iia semapv:UnspecifiedMatching MONDO:0011322 Oroacral syndrome, Verloes-Koulischer type skos:exactMatch UMLS:C1863879 semapv:UnspecifiedMatching MONDO:0011322 Oroacral syndrome, Verloes-Koulischer type skos:exactMatch mesh:C566374 semapv:UnspecifiedMatching MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:exactMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:UnspecifiedMatching MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:exactMatch SCTID:720511000 semapv:UnspecifiedMatching MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:exactMatch mesh:C537429 semapv:UnspecifiedMatching MONDO:0011325 Fanconi anemia complementation group F skos:exactMatch DOID:0111088 Fanconi anemia complementation group F semapv:UnspecifiedMatching MONDO:0011325 Fanconi anemia complementation group F skos:exactMatch NCIT:C125707 Fanconi Anemia, Complementation Group F semapv:UnspecifiedMatching MONDO:0011325 Fanconi anemia complementation group F skos:exactMatch OMIM:603467 fanconi anemia, complementation group f semapv:UnspecifiedMatching MONDO:0011326 citrullinemia, type II, adult-onset skos:exactMatch DOID:0070342 adult-onset type II citrullinemia semapv:UnspecifiedMatching MONDO:0011326 citrullinemia, type II, adult-onset skos:exactMatch OMIM:603471 citrullinemia, iia ii, adult-onset semapv:UnspecifiedMatching MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch DOID:0081294 neuronal intranuclear inclusion disease semapv:UnspecifiedMatching MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch NCIT:C122655 Neuronal Intranuclear Inclusion Disease semapv:UnspecifiedMatching MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch OMIM:603472 neuronal intranuclear inclusion disease semapv:UnspecifiedMatching MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:UnspecifiedMatching MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch SCTID:715437003 semapv:UnspecifiedMatching MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch UMLS:C1863843 semapv:UnspecifiedMatching MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch mesh:C537395 semapv:UnspecifiedMatching MONDO:0011330 spinocerebellar ataxia type 10 skos:exactMatch DOID:0050960 spinocerebellar ataxia type 10 semapv:UnspecifiedMatching MONDO:0011330 spinocerebellar ataxia type 10 skos:exactMatch OMIM:603516 spinocerebellar ataxia 10 semapv:UnspecifiedMatching MONDO:0011330 spinocerebellar ataxia type 10 skos:exactMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:UnspecifiedMatching MONDO:0011330 spinocerebellar ataxia type 10 skos:exactMatch SCTID:715754007 semapv:UnspecifiedMatching MONDO:0011330 spinocerebellar ataxia type 10 skos:exactMatch UMLS:C1963674 semapv:UnspecifiedMatching MONDO:0011330 spinocerebellar ataxia type 10 skos:exactMatch mesh:C566874 semapv:UnspecifiedMatching MONDO:0011331 congenital chylothorax skos:exactMatch DOID:0060646 congenital chylothorax semapv:UnspecifiedMatching MONDO:0011331 congenital chylothorax skos:exactMatch OMIM:603523 chylothorax, congenital semapv:UnspecifiedMatching MONDO:0011331 congenital chylothorax skos:exactMatch Orphanet:264688 Congenital chylothorax semapv:UnspecifiedMatching MONDO:0011331 congenital chylothorax skos:exactMatch SCTID:233646003 semapv:UnspecifiedMatching MONDO:0011331 congenital chylothorax skos:exactMatch UMLS:C0340014 semapv:UnspecifiedMatching MONDO:0011331 congenital chylothorax skos:exactMatch mesh:C535461 semapv:UnspecifiedMatching MONDO:0011332 Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin skos:exactMatch OMIM:603529 dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin semapv:UnspecifiedMatching MONDO:0011332 Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin skos:exactMatch UMLS:C3807235 semapv:UnspecifiedMatching MONDO:0011334 limb-mammary syndrome skos:exactMatch OMIM:603543 limb-mammary syndrome semapv:UnspecifiedMatching MONDO:0011334 limb-mammary syndrome skos:exactMatch Orphanet:69085 Limb-mammary syndrome semapv:UnspecifiedMatching MONDO:0011334 limb-mammary syndrome skos:exactMatch SCTID:721972001 semapv:UnspecifiedMatching MONDO:0011334 limb-mammary syndrome skos:exactMatch mesh:C535903 semapv:UnspecifiedMatching MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 semapv:UnspecifiedMatching MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch NCIT:C125419 Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 semapv:UnspecifiedMatching MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch OMIM:603546 spondyloepimetaphyseal dysplasia with joint laxity, iia 2 semapv:UnspecifiedMatching MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:UnspecifiedMatching MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch SCTID:766820007 semapv:UnspecifiedMatching MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch UMLS:C1863732 semapv:UnspecifiedMatching MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch mesh:C535784 semapv:UnspecifiedMatching MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:exactMatch DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 semapv:UnspecifiedMatching MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:exactMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:UnspecifiedMatching MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:exactMatch mesh:C537252 semapv:UnspecifiedMatching MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:exactMatch DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 semapv:UnspecifiedMatching MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:exactMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:UnspecifiedMatching MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:exactMatch mesh:C537250 semapv:UnspecifiedMatching MONDO:0011338 Omenn syndrome skos:exactMatch DOID:0060010 Omenn syndrome semapv:UnspecifiedMatching MONDO:0011338 Omenn syndrome skos:exactMatch NCIT:C61240 Omenn Syndrome semapv:UnspecifiedMatching MONDO:0011338 Omenn syndrome skos:exactMatch OMIM:603554 omenn syndrome semapv:UnspecifiedMatching MONDO:0011338 Omenn syndrome skos:exactMatch Orphanet:39041 Omenn syndrome semapv:UnspecifiedMatching MONDO:0011338 Omenn syndrome skos:exactMatch SCTID:722067005 semapv:UnspecifiedMatching MONDO:0011338 Omenn syndrome skos:exactMatch UMLS:C2700553 semapv:UnspecifiedMatching MONDO:0011339 hereditary spastic paraplegia 8 skos:exactMatch DOID:0110823 hereditary spastic paraplegia 8 semapv:UnspecifiedMatching MONDO:0011339 hereditary spastic paraplegia 8 skos:exactMatch OMIM:603563 spastic paraplegia 8, autosomal dominant semapv:UnspecifiedMatching MONDO:0011339 hereditary spastic paraplegia 8 skos:exactMatch Orphanet:100989 Autosomal dominant spastic paraplegia type 8 semapv:UnspecifiedMatching MONDO:0011339 hereditary spastic paraplegia 8 skos:exactMatch UMLS:C1863704 semapv:UnspecifiedMatching MONDO:0011339 hereditary spastic paraplegia 8 skos:exactMatch mesh:C580458 semapv:UnspecifiedMatching MONDO:0011340 congenital tracheal stenosis skos:exactMatch OMIM:603569 tracheobronchial stenosis, congenital semapv:UnspecifiedMatching MONDO:0011340 congenital tracheal stenosis skos:exactMatch Orphanet:141127 Congenital tracheal stenosis semapv:UnspecifiedMatching MONDO:0011340 congenital tracheal stenosis skos:exactMatch SCTID:9660004 semapv:UnspecifiedMatching MONDO:0011340 congenital tracheal stenosis skos:exactMatch mesh:C566362 semapv:UnspecifiedMatching MONDO:0011341 microcephaly, facial abnormalities, micromelia, and intellectual disability skos:exactMatch OMIM:603572 microcephaly, facial abnormalities, micromelia, and mental retardation semapv:UnspecifiedMatching MONDO:0011341 microcephaly, facial abnormalities, micromelia, and intellectual disability skos:exactMatch UMLS:C1863702 semapv:UnspecifiedMatching MONDO:0011341 microcephaly, facial abnormalities, micromelia, and intellectual disability skos:exactMatch mesh:C566361 semapv:UnspecifiedMatching MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch DOID:0070258 congenital disorder of glycosylation type IIf semapv:UnspecifiedMatching MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch OMIM:603585 congenital disorder of glycosylation, iia iif semapv:UnspecifiedMatching MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch Orphanet:238459 SLC35A1-CDG semapv:UnspecifiedMatching MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch SCTID:723624008 semapv:UnspecifiedMatching MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch UMLS:C1970344 semapv:UnspecifiedMatching MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch mesh:C567040 semapv:UnspecifiedMatching MONDO:0011343 follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts skos:exactMatch OMIM:603587 follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts semapv:UnspecifiedMatching MONDO:0011343 follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts skos:exactMatch UMLS:C1863692 semapv:UnspecifiedMatching MONDO:0011343 follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts skos:exactMatch mesh:C566360 semapv:UnspecifiedMatching MONDO:0011344 parotitis, juvenile recurrent skos:exactMatch OMIM:603588 parotitis, juvenile recurrent semapv:UnspecifiedMatching MONDO:0011344 parotitis, juvenile recurrent skos:exactMatch UMLS:C1863691 semapv:UnspecifiedMatching MONDO:0011344 parotitis, juvenile recurrent skos:exactMatch mesh:C566359 semapv:UnspecifiedMatching MONDO:0011345 facial dysmorphism, selective tooth agenesis, and choroid calcification skos:exactMatch OMIM:603589 facial dysmorphism, selective tooth agenesis, and choroid calcification semapv:UnspecifiedMatching MONDO:0011345 facial dysmorphism, selective tooth agenesis, and choroid calcification skos:exactMatch UMLS:C1970343 semapv:UnspecifiedMatching MONDO:0011345 facial dysmorphism, selective tooth agenesis, and choroid calcification skos:exactMatch mesh:C567039 semapv:UnspecifiedMatching MONDO:0011346 xanthinuria type II skos:exactMatch OMIM:603592 xanthinuria, iia 2 semapv:UnspecifiedMatching MONDO:0011346 xanthinuria type II skos:exactMatch Orphanet:93602 Xanthinuria type II semapv:UnspecifiedMatching MONDO:0011346 xanthinuria type II skos:exactMatch UMLS:C1863688 semapv:UnspecifiedMatching MONDO:0011346 xanthinuria type II skos:exactMatch mesh:C566358 semapv:UnspecifiedMatching MONDO:0011347 craniosynostosis with ectopia lentis skos:exactMatch OMIM:603595 craniosynostosis with ectopia lentis semapv:UnspecifiedMatching MONDO:0011347 craniosynostosis with ectopia lentis skos:exactMatch UMLS:C1863678 semapv:UnspecifiedMatching MONDO:0011347 craniosynostosis with ectopia lentis skos:exactMatch mesh:C566357 semapv:UnspecifiedMatching MONDO:0011348 non-syndromic polydactyly skos:exactMatch Orphanet:2913 Non-syndromic polydactyly semapv:UnspecifiedMatching MONDO:0011349 osteoma of cranial vault, familial skos:exactMatch OMIM:603600 osteoma of cranial vault, familial semapv:UnspecifiedMatching MONDO:0011349 osteoma of cranial vault, familial skos:exactMatch UMLS:C1863677 semapv:UnspecifiedMatching MONDO:0011349 osteoma of cranial vault, familial skos:exactMatch mesh:C566356 semapv:UnspecifiedMatching MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:exactMatch DOID:0110548 autosomal dominant nonsyndromic deafness 17 semapv:UnspecifiedMatching MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:exactMatch OMIM:603622 deafness, autosomal dominant 17 semapv:UnspecifiedMatching MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:exactMatch DOID:0110479 autosomal recessive nonsyndromic deafness 21 semapv:UnspecifiedMatching MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:exactMatch OMIM:603629 deafness, autosomal recessive 21 semapv:UnspecifiedMatching MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:exactMatch UMLS:C1863655 semapv:UnspecifiedMatching MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:exactMatch mesh:C566353 semapv:UnspecifiedMatching MONDO:0011352 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia skos:exactMatch OMIM:603641 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia semapv:UnspecifiedMatching MONDO:0011352 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia skos:exactMatch UMLS:C1863649 semapv:UnspecifiedMatching MONDO:0011352 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia skos:exactMatch mesh:C566352 semapv:UnspecifiedMatching MONDO:0011353 atrial septal defect, secundum, with various cardiac and Noncardiac defects skos:exactMatch OMIM:603642 atrial septal defect, secundum, with various cardiac and noncardiac defects semapv:UnspecifiedMatching MONDO:0011353 atrial septal defect, secundum, with various cardiac and Noncardiac defects skos:exactMatch UMLS:C1863648 semapv:UnspecifiedMatching MONDO:0011353 atrial septal defect, secundum, with various cardiac and Noncardiac defects skos:exactMatch mesh:C566351 semapv:UnspecifiedMatching MONDO:0011354 situs inversus totalis with cystic dysplasia of kidneys and pancreas skos:exactMatch OMIM:603643 situs inversus totalis with cystic dysplasia of kidneys and pancreas semapv:UnspecifiedMatching MONDO:0011354 situs inversus totalis with cystic dysplasia of kidneys and pancreas skos:exactMatch UMLS:C1863647 semapv:UnspecifiedMatching MONDO:0011354 situs inversus totalis with cystic dysplasia of kidneys and pancreas skos:exactMatch mesh:C536666 semapv:UnspecifiedMatching MONDO:0011355 cone-rod dystrophy 7 skos:exactMatch DOID:0111012 cone-rod dystrophy 7 semapv:UnspecifiedMatching MONDO:0011355 cone-rod dystrophy 7 skos:exactMatch OMIM:603649 cone-rod dystrophy 7 semapv:UnspecifiedMatching MONDO:0011355 cone-rod dystrophy 7 skos:exactMatch UMLS:C1863634 semapv:UnspecifiedMatching MONDO:0011355 cone-rod dystrophy 7 skos:exactMatch mesh:C566350 semapv:UnspecifiedMatching MONDO:0011356 exostosis, Dupuytren subungual skos:exactMatch OMIM:603656 exostosis, dupuytren subungual semapv:UnspecifiedMatching MONDO:0011356 exostosis, Dupuytren subungual skos:exactMatch UMLS:C1863622 semapv:UnspecifiedMatching MONDO:0011356 exostosis, Dupuytren subungual skos:exactMatch mesh:C535723 semapv:UnspecifiedMatching MONDO:0011357 eccrine syringofibroadenomatosis with eyelid abnormalities skos:exactMatch OMIM:603669 eccrine syringofibroadenomatosis with eyelid abnormalities semapv:UnspecifiedMatching MONDO:0011357 eccrine syringofibroadenomatosis with eyelid abnormalities skos:exactMatch UMLS:C1863618 semapv:UnspecifiedMatching MONDO:0011357 eccrine syringofibroadenomatosis with eyelid abnormalities skos:exactMatch mesh:C566347 semapv:UnspecifiedMatching MONDO:0011358 blue nevi, familial multiple skos:exactMatch OMIM:603670 blue nevi, familial multiple semapv:UnspecifiedMatching MONDO:0011358 blue nevi, familial multiple skos:exactMatch UMLS:C1863617 semapv:UnspecifiedMatching MONDO:0011358 blue nevi, familial multiple skos:exactMatch mesh:C566346 semapv:UnspecifiedMatching MONDO:0011359 acromelic frontonasal dysostosis skos:exactMatch DOID:0060342 acromelic frontonasal dysostosis semapv:UnspecifiedMatching MONDO:0011359 acromelic frontonasal dysostosis skos:exactMatch OMIM:603671 acromelic frontonasal dysostosis semapv:UnspecifiedMatching MONDO:0011359 acromelic frontonasal dysostosis skos:exactMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:UnspecifiedMatching MONDO:0011359 acromelic frontonasal dysostosis skos:exactMatch SCTID:715427008 semapv:UnspecifiedMatching MONDO:0011359 acromelic frontonasal dysostosis skos:exactMatch UMLS:C1863616 semapv:UnspecifiedMatching MONDO:0011359 acromelic frontonasal dysostosis skos:exactMatch mesh:C566345 semapv:UnspecifiedMatching MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:exactMatch DOID:0110469 autosomal recessive nonsyndromic deafness 14 semapv:UnspecifiedMatching MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:exactMatch OMIM:603678 deafness, autosomal recessive 14 semapv:UnspecifiedMatching MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:exactMatch UMLS:C1863613 semapv:UnspecifiedMatching MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:exactMatch mesh:C566344 semapv:UnspecifiedMatching MONDO:0011361 prostate cancer/brain cancer susceptibility skos:exactMatch OMIM:603688 prostate cancer/brain cancer susceptibility semapv:UnspecifiedMatching MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch DOID:0111188 myofibrillar myopathy 9 semapv:UnspecifiedMatching MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch OMIM:603689 myopathy, myofibrillar, 9, with early respiratory failure semapv:UnspecifiedMatching MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:UnspecifiedMatching MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch SCTID:702373006 semapv:UnspecifiedMatching MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch UMLS:C1863599 semapv:UnspecifiedMatching MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch mesh:C564377 semapv:UnspecifiedMatching MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch mesh:C566343 semapv:UnspecifiedMatching MONDO:0011363 diabetes mellitus, noninsulin-dependent, 3 skos:exactMatch OMIM:603694 iia 2 diabetes mellitus 3 semapv:UnspecifiedMatching MONDO:0011363 diabetes mellitus, noninsulin-dependent, 3 skos:exactMatch UMLS:C1863594 semapv:UnspecifiedMatching MONDO:0011363 diabetes mellitus, noninsulin-dependent, 3 skos:exactMatch mesh:C566342 semapv:UnspecifiedMatching MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:exactMatch DOID:0110471 autosomal recessive nonsyndromic deafness 16 semapv:UnspecifiedMatching MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:exactMatch OMIM:603720 deafness, autosomal recessive 16 semapv:UnspecifiedMatching MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:exactMatch UMLS:C1863561 semapv:UnspecifiedMatching MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:exactMatch mesh:C566339 semapv:UnspecifiedMatching MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type semapv:UnspecifiedMatching MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch OMIM:603736 ohdo syndrome, sbbys variant semapv:UnspecifiedMatching MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type semapv:UnspecifiedMatching MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch SCTID:699298009 semapv:UnspecifiedMatching MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch mesh:C536717 semapv:UnspecifiedMatching MONDO:0011366 ovarian germ cell tumor skos:exactMatch DOID:2156 ovarian germ cell cancer semapv:UnspecifiedMatching MONDO:0011366 ovarian germ cell tumor skos:exactMatch NCIT:C3873 Ovarian Germ Cell Tumor semapv:UnspecifiedMatching MONDO:0011366 ovarian germ cell tumor skos:exactMatch OMIM:603737 ovarian germ cell cancer semapv:UnspecifiedMatching MONDO:0011366 ovarian germ cell tumor skos:exactMatch SCTID:237059008 semapv:UnspecifiedMatching MONDO:0011366 ovarian germ cell tumor skos:exactMatch UMLS:C0238324 semapv:UnspecifiedMatching MONDO:0011367 Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia skos:exactMatch OMIM:603740 acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia semapv:UnspecifiedMatching MONDO:0011367 Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia skos:exactMatch UMLS:C1863556 semapv:UnspecifiedMatching MONDO:0011367 Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia skos:exactMatch mesh:C538181 semapv:UnspecifiedMatching MONDO:0011368 papillary thyroid Microcarcinoma skos:exactMatch NCIT:C46004 Thyroid Gland Papillary Microcarcinoma semapv:UnspecifiedMatching MONDO:0011368 papillary thyroid Microcarcinoma skos:exactMatch OMIM:603744 papillary thyroid microcarcinoma semapv:UnspecifiedMatching MONDO:0011368 papillary thyroid Microcarcinoma skos:exactMatch UMLS:C1709457 semapv:UnspecifiedMatching MONDO:0011368 papillary thyroid Microcarcinoma skos:exactMatch mesh:C563277 semapv:UnspecifiedMatching MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 skos:exactMatch OMIM:603776 hypercholesterolemia, familial, 3 semapv:UnspecifiedMatching MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 skos:exactMatch UMLS:C1863551 semapv:UnspecifiedMatching MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 skos:exactMatch mesh:C566337 semapv:UnspecifiedMatching MONDO:0011370 Stargardt disease 4 skos:exactMatch OMIM:603786 stargardt disease 4 semapv:UnspecifiedMatching MONDO:0011370 Stargardt disease 4 skos:exactMatch UMLS:C1863534 semapv:UnspecifiedMatching MONDO:0011370 Stargardt disease 4 skos:exactMatch mesh:C535521 semapv:UnspecifiedMatching MONDO:0011371 hydroa vacciniforme, familial skos:exactMatch OMIM:603794 hydroa vacciniforme, familial semapv:UnspecifiedMatching MONDO:0011371 hydroa vacciniforme, familial skos:exactMatch UMLS:C1863533 semapv:UnspecifiedMatching MONDO:0011371 hydroa vacciniforme, familial skos:exactMatch mesh:C536077 semapv:UnspecifiedMatching MONDO:0011372 microcephaly with simplified gyral pattern skos:exactMatch OMIM:603802 microcephaly with simplified gyral pattern semapv:UnspecifiedMatching MONDO:0011372 microcephaly with simplified gyral pattern skos:exactMatch UMLS:C1863516 semapv:UnspecifiedMatching MONDO:0011372 microcephaly with simplified gyral pattern skos:exactMatch mesh:C566332 semapv:UnspecifiedMatching MONDO:0011373 urinary tract infections, recurrent, susceptibility to skos:exactMatch OMIM:603806 urinary tract infections, recurrent, susceptibility to semapv:UnspecifiedMatching MONDO:0011374 hypercholesterolemia, familial, 4 skos:exactMatch DOID:0090105 autosomal recessive hypercholesterolemia semapv:UnspecifiedMatching MONDO:0011374 hypercholesterolemia, familial, 4 skos:exactMatch NCIT:C128114 Hypercholesterolemia, Familial, 4 semapv:UnspecifiedMatching MONDO:0011374 hypercholesterolemia, familial, 4 skos:exactMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:UnspecifiedMatching MONDO:0011374 hypercholesterolemia, familial, 4 skos:exactMatch UMLS:C1863512 semapv:UnspecifiedMatching MONDO:0011374 hypercholesterolemia, familial, 4 skos:exactMatch mesh:C566331 semapv:UnspecifiedMatching MONDO:0011375 brittle bone disorder skos:exactMatch OMIM:603828 brittle bone disorder semapv:UnspecifiedMatching MONDO:0011375 brittle bone disorder skos:exactMatch UMLS:C1859069 semapv:UnspecifiedMatching MONDO:0011375 brittle bone disorder skos:exactMatch mesh:C565842 semapv:UnspecifiedMatching MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:exactMatch OMIM:603829 ventricular fibrillation, paroxysmal familial, 1 semapv:UnspecifiedMatching MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:exactMatch SCTID:233915000 semapv:UnspecifiedMatching MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:exactMatch UMLS:C2751898 semapv:UnspecifiedMatching MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:exactMatch mesh:C567851 semapv:UnspecifiedMatching MONDO:0011377 long QT syndrome 3 skos:exactMatch DOID:0110646 long QT syndrome 3 semapv:UnspecifiedMatching MONDO:0011377 long QT syndrome 3 skos:exactMatch NCIT:C137959 Long QT Syndrome 3 semapv:UnspecifiedMatching MONDO:0011377 long QT syndrome 3 skos:exactMatch OMIM:603830 long qt syndrome 3 semapv:UnspecifiedMatching MONDO:0011377 long QT syndrome 3 skos:exactMatch UMLS:C1859062 semapv:UnspecifiedMatching MONDO:0011377 long QT syndrome 3 skos:exactMatch mesh:C565840 semapv:UnspecifiedMatching MONDO:0011378 obsolete CFM1 skos:exactMatch OMIM:603855 cystic fibrosis, modifier of, 1 semapv:UnspecifiedMatching MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter skos:exactMatch UMLS:C1858991 semapv:UnspecifiedMatching MONDO:0011381 dominant beta-thalassemia skos:exactMatch DOID:0080770 autosomal dominant beta thalassemia semapv:UnspecifiedMatching MONDO:0011381 dominant beta-thalassemia skos:exactMatch OMIM:603902 beta-thalassemia, dominant inclusion body iia semapv:UnspecifiedMatching MONDO:0011381 dominant beta-thalassemia skos:exactMatch Orphanet:231226 Dominant beta-thalassemia semapv:UnspecifiedMatching MONDO:0011381 dominant beta-thalassemia skos:exactMatch SCTID:716682000 semapv:UnspecifiedMatching MONDO:0011381 dominant beta-thalassemia skos:exactMatch UMLS:C1858990 semapv:UnspecifiedMatching MONDO:0011381 dominant beta-thalassemia skos:exactMatch mesh:C565834 semapv:UnspecifiedMatching MONDO:0011382 sickle cell anemia skos:exactMatch DOID:10923 sickle cell anemia semapv:UnspecifiedMatching MONDO:0011382 sickle cell anemia skos:exactMatch NCIT:C34383 Sickle Cell Disease semapv:UnspecifiedMatching MONDO:0011382 sickle cell anemia skos:exactMatch OMIM:603903 sickle cell disease semapv:UnspecifiedMatching MONDO:0011382 sickle cell anemia skos:exactMatch Orphanet:232 Sickle cell anemia semapv:UnspecifiedMatching MONDO:0011382 sickle cell anemia skos:exactMatch UMLS:C0002895 semapv:UnspecifiedMatching MONDO:0011382 sickle cell anemia skos:exactMatch mesh:D000755 semapv:UnspecifiedMatching MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:exactMatch DOID:0110115 autoimmune lymphoproliferative syndrome type 2A semapv:UnspecifiedMatching MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:exactMatch NCIT:C39576 Autoimmune Lymphoproliferative Syndrome with Germline CASP10 Mutation semapv:UnspecifiedMatching MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:exactMatch OMIM:603909 autoimmune lymphoproliferative syndrome, iia 2a semapv:UnspecifiedMatching MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:exactMatch UMLS:C1858968 semapv:UnspecifiedMatching MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:exactMatch mesh:C565833 semapv:UnspecifiedMatching MONDO:0011384 hypertension, essential, susceptibility to, 1 skos:exactMatch OMIM:603918 hypertension, essential, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011385 intervertebral disk degenerative disorder skos:exactMatch DOID:90 degenerative disc disease semapv:UnspecifiedMatching MONDO:0011385 intervertebral disk degenerative disorder skos:exactMatch NCIT:C26983 Intervertebral Disc Degenerative Disorder semapv:UnspecifiedMatching MONDO:0011385 intervertebral disk degenerative disorder skos:exactMatch OMIM:603932 intervertebral disc disease semapv:UnspecifiedMatching MONDO:0011385 intervertebral disk degenerative disorder skos:exactMatch SCTID:77547008 semapv:UnspecifiedMatching MONDO:0011385 intervertebral disk degenerative disorder skos:exactMatch UMLS:C0158266 semapv:UnspecifiedMatching MONDO:0011385 intervertebral disk degenerative disorder skos:exactMatch mesh:D055959 semapv:UnspecifiedMatching MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:exactMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011387 psoriasis 4, susceptibility to skos:exactMatch DOID:0111280 psoriasis 4 semapv:UnspecifiedMatching MONDO:0011387 psoriasis 4, susceptibility to skos:exactMatch OMIM:603935 psoriasis 4, susceptibility to semapv:UnspecifiedMatching MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:exactMatch DOID:0110547 autosomal dominant nonsyndromic deafness 16 semapv:UnspecifiedMatching MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:exactMatch OMIM:603964 deafness, autosomal dominant 16 semapv:UnspecifiedMatching MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:exactMatch UMLS:C1858916 semapv:UnspecifiedMatching MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:exactMatch mesh:C565832 semapv:UnspecifiedMatching MONDO:0011390 focal segmental glomerulosclerosis 2 skos:exactMatch DOID:0111129 focal segmental glomerulosclerosis 2 semapv:UnspecifiedMatching MONDO:0011390 focal segmental glomerulosclerosis 2 skos:exactMatch OMIM:603965 focal segmental glomerulosclerosis 2 semapv:UnspecifiedMatching MONDO:0011390 focal segmental glomerulosclerosis 2 skos:exactMatch UMLS:C1858915 semapv:UnspecifiedMatching MONDO:0011390 focal segmental glomerulosclerosis 2 skos:exactMatch mesh:C565831 semapv:UnspecifiedMatching MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts semapv:UnspecifiedMatching MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:UnspecifiedMatching MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch SCTID:703536004 semapv:UnspecifiedMatching MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch UMLS:C1858854 semapv:UnspecifiedMatching MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch mesh:C536141 semapv:UnspecifiedMatching MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:exactMatch DOID:0110478 autosomal recessive nonsyndromic deafness 20 semapv:UnspecifiedMatching MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:exactMatch OMIM:604060 deafness, autosomal recessive 20 semapv:UnspecifiedMatching MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:exactMatch UMLS:C1858840 semapv:UnspecifiedMatching MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:exactMatch mesh:C565828 semapv:UnspecifiedMatching MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:exactMatch DOID:0080957 primary hypoalphalipoproteinemia 1 semapv:UnspecifiedMatching MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:exactMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:UnspecifiedMatching MONDO:0011395 cone-rod dystrophy 3 skos:exactMatch DOID:0111013 cone-rod dystrophy 3 semapv:UnspecifiedMatching MONDO:0011395 cone-rod dystrophy 3 skos:exactMatch OMIM:604116 cone-rod dystrophy 3 semapv:UnspecifiedMatching MONDO:0011395 cone-rod dystrophy 3 skos:exactMatch UMLS:C1858806 semapv:UnspecifiedMatching MONDO:0011395 cone-rod dystrophy 3 skos:exactMatch mesh:C565827 semapv:UnspecifiedMatching MONDO:0011396 loricrin keratoderma skos:exactMatch OMIM:604117 vohwinkel syndrome, variant form semapv:UnspecifiedMatching MONDO:0011396 loricrin keratoderma skos:exactMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:UnspecifiedMatching MONDO:0011396 loricrin keratoderma skos:exactMatch SCTID:717183001 semapv:UnspecifiedMatching MONDO:0011396 loricrin keratoderma skos:exactMatch UMLS:C1858805 semapv:UnspecifiedMatching MONDO:0011396 loricrin keratoderma skos:exactMatch mesh:C565826 semapv:UnspecifiedMatching MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:exactMatch DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy semapv:UnspecifiedMatching MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:exactMatch OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant semapv:UnspecifiedMatching MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:exactMatch Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome semapv:UnspecifiedMatching MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:exactMatch UMLS:C3807295 semapv:UnspecifiedMatching MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:exactMatch OMIM:604129 epidermolysis bullosa pruriginosa semapv:UnspecifiedMatching MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:exactMatch Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa semapv:UnspecifiedMatching MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:exactMatch SCTID:403810008 semapv:UnspecifiedMatching MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:exactMatch UMLS:C1275114 semapv:UnspecifiedMatching MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:exactMatch mesh:C563192 semapv:UnspecifiedMatching MONDO:0011399 alpha thalassemia skos:exactMatch DOID:1099 alpha thalassemia semapv:UnspecifiedMatching MONDO:0011399 alpha thalassemia skos:exactMatch ICD10CM:D56.0 Alpha thalassemia semapv:UnspecifiedMatching MONDO:0011399 alpha thalassemia skos:exactMatch NCIT:C34368 Alpha Thalassemia semapv:UnspecifiedMatching MONDO:0011399 alpha thalassemia skos:exactMatch OMIM:604131 alpha-thalassemia semapv:UnspecifiedMatching MONDO:0011399 alpha thalassemia skos:exactMatch Orphanet:846 Alpha-thalassemia semapv:UnspecifiedMatching MONDO:0011399 alpha thalassemia skos:exactMatch SCTID:68913001 semapv:UnspecifiedMatching MONDO:0011399 alpha thalassemia skos:exactMatch UMLS:C0002312 semapv:UnspecifiedMatching MONDO:0011399 alpha thalassemia skos:exactMatch mesh:D017085 semapv:UnspecifiedMatching MONDO:0011400 dilated cardiomyopathy 1G skos:exactMatch DOID:0110430 dilated cardiomyopathy 1G semapv:UnspecifiedMatching MONDO:0011400 dilated cardiomyopathy 1G skos:exactMatch OMIM:604145 cardiomyopathy, dilated, 1g semapv:UnspecifiedMatching MONDO:0011400 dilated cardiomyopathy 1G skos:exactMatch UMLS:C1858763 semapv:UnspecifiedMatching MONDO:0011400 dilated cardiomyopathy 1G skos:exactMatch mesh:C565824 semapv:UnspecifiedMatching MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:exactMatch DOID:0110048 Alzheimer's disease 15 semapv:UnspecifiedMatching MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:exactMatch OMIM:604154 alzheimer disease 15 semapv:UnspecifiedMatching MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:exactMatch UMLS:C1858751 semapv:UnspecifiedMatching MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:exactMatch mesh:C536599 semapv:UnspecifiedMatching MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:exactMatch mesh:C566998 semapv:UnspecifiedMatching MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:exactMatch OMIM:604168 congenital cataracts, facial dysmorphism, and neuropathy semapv:UnspecifiedMatching MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:exactMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:UnspecifiedMatching MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:exactMatch SCTID:702433001 semapv:UnspecifiedMatching MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:exactMatch UMLS:C1858726 semapv:UnspecifiedMatching MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:exactMatch mesh:C565822 semapv:UnspecifiedMatching MONDO:0011403 left ventricular noncompaction 1 skos:exactMatch OMIM:604169 left ventricular noncompaction 1 semapv:UnspecifiedMatching MONDO:0011403 left ventricular noncompaction 1 skos:exactMatch UMLS:C1858725 semapv:UnspecifiedMatching MONDO:0011404 Caronte skos:exactMatch OMIM:604172 caronte semapv:UnspecifiedMatching MONDO:0011405 poikiloderma with neutropenia skos:exactMatch DOID:0060551 poikiloderma with neutropenia semapv:UnspecifiedMatching MONDO:0011405 poikiloderma with neutropenia skos:exactMatch NCIT:C177535 Poikiloderma with Neutropenia semapv:UnspecifiedMatching MONDO:0011405 poikiloderma with neutropenia skos:exactMatch OMIM:604173 poikiloderma with neutropenia semapv:UnspecifiedMatching MONDO:0011405 poikiloderma with neutropenia skos:exactMatch Orphanet:221046 Poikiloderma with neutropenia semapv:UnspecifiedMatching MONDO:0011406 cholesteatoma, congenital skos:exactMatch OMIM:604183 cholesteatoma, congenital semapv:UnspecifiedMatching MONDO:0011406 cholesteatoma, congenital skos:exactMatch SCTID:232262007 semapv:UnspecifiedMatching MONDO:0011406 cholesteatoma, congenital skos:exactMatch mesh:C562858 semapv:UnspecifiedMatching MONDO:0011407 facial paresis, hereditary congenital, 2 skos:exactMatch OMIM:604185 facial paresis, hereditary congenital, 2 semapv:UnspecifiedMatching MONDO:0011407 facial paresis, hereditary congenital, 2 skos:exactMatch UMLS:C1858717 semapv:UnspecifiedMatching MONDO:0011408 hereditary spastic paraplegia 10 skos:exactMatch DOID:0110763 hereditary spastic paraplegia 10 semapv:UnspecifiedMatching MONDO:0011408 hereditary spastic paraplegia 10 skos:exactMatch OMIM:604187 spastic paraplegia 10, autosomal dominant semapv:UnspecifiedMatching MONDO:0011408 hereditary spastic paraplegia 10 skos:exactMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:UnspecifiedMatching MONDO:0011408 hereditary spastic paraplegia 10 skos:exactMatch SCTID:732948003 semapv:UnspecifiedMatching MONDO:0011408 hereditary spastic paraplegia 10 skos:exactMatch UMLS:C1858712 semapv:UnspecifiedMatching MONDO:0011408 hereditary spastic paraplegia 10 skos:exactMatch mesh:C537482 semapv:UnspecifiedMatching MONDO:0011409 hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection skos:exactMatch OMIM:604201 hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection semapv:UnspecifiedMatching MONDO:0011410 Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly skos:exactMatch OMIM:604211 hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly semapv:UnspecifiedMatching MONDO:0011410 Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly skos:exactMatch UMLS:C1858696 semapv:UnspecifiedMatching MONDO:0011410 Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly skos:exactMatch mesh:C565817 semapv:UnspecifiedMatching MONDO:0011411 Chudley-McCullough syndrome skos:exactMatch OMIM:604213 chudley-mccullough syndrome semapv:UnspecifiedMatching MONDO:0011411 Chudley-McCullough syndrome skos:exactMatch Orphanet:314597 Chudley-McCullough syndrome semapv:UnspecifiedMatching MONDO:0011411 Chudley-McCullough syndrome skos:exactMatch UMLS:C1858695 semapv:UnspecifiedMatching MONDO:0011411 Chudley-McCullough syndrome skos:exactMatch mesh:C535459 semapv:UnspecifiedMatching MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies semapv:UnspecifiedMatching MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch OMIM:604218 encephalopathy, familial, with neuroserpin inclusion bodies semapv:UnspecifiedMatching MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:UnspecifiedMatching MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch SCTID:702421006 semapv:UnspecifiedMatching MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch UMLS:C1858680 semapv:UnspecifiedMatching MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch mesh:C536841 semapv:UnspecifiedMatching MONDO:0011413 cataract 9 multiple types skos:exactMatch DOID:0110266 cataract 9 multiple types semapv:UnspecifiedMatching MONDO:0011413 cataract 9 multiple types skos:exactMatch OMIM:604219 cataract 9, multiple types semapv:UnspecifiedMatching MONDO:0011413 cataract 9 multiple types skos:exactMatch UMLS:C1858679 semapv:UnspecifiedMatching MONDO:0011414 Peters anomaly skos:exactMatch DOID:0060673 Peters anomaly semapv:UnspecifiedMatching MONDO:0011414 Peters anomaly skos:exactMatch DOID:0080610 anterior segment dysgenesis 5 semapv:UnspecifiedMatching MONDO:0011414 Peters anomaly skos:exactMatch OMIM:604229 anterior segment dysgenesis 5 semapv:UnspecifiedMatching MONDO:0011414 Peters anomaly skos:exactMatch Orphanet:708 Peters anomaly semapv:UnspecifiedMatching MONDO:0011414 Peters anomaly skos:exactMatch SCTID:204153003 semapv:UnspecifiedMatching MONDO:0011414 Peters anomaly skos:exactMatch mesh:C537884 semapv:UnspecifiedMatching MONDO:0011415 Leber congenital amaurosis 3 skos:exactMatch DOID:0110331 Leber congenital amaurosis 3 semapv:UnspecifiedMatching MONDO:0011415 Leber congenital amaurosis 3 skos:exactMatch OMIM:604232 leber congenital amaurosis 3 semapv:UnspecifiedMatching MONDO:0011415 Leber congenital amaurosis 3 skos:exactMatch mesh:C565814 semapv:UnspecifiedMatching MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 skos:exactMatch DOID:0111302 generalized epilepsy with febrile seizures plus 1 semapv:UnspecifiedMatching MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 skos:exactMatch OMIM:604233 generalized epilepsy with febrile seizures plus, iia 1 semapv:UnspecifiedMatching MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 skos:exactMatch UMLS:C1858672 semapv:UnspecifiedMatching MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 skos:exactMatch mesh:C565809 semapv:UnspecifiedMatching MONDO:0011417 hemochromatosis type 3 skos:exactMatch DOID:0111030 hemochromatosis type 3 semapv:UnspecifiedMatching MONDO:0011417 hemochromatosis type 3 skos:exactMatch OMIM:604250 hemochromatosis, iia 3 semapv:UnspecifiedMatching MONDO:0011417 hemochromatosis type 3 skos:exactMatch Orphanet:225123 TFR2-related hemochromatosis semapv:UnspecifiedMatching MONDO:0011417 hemochromatosis type 3 skos:exactMatch SCTID:719974003 semapv:UnspecifiedMatching MONDO:0011417 hemochromatosis type 3 skos:exactMatch UMLS:C1858664 semapv:UnspecifiedMatching MONDO:0011417 hemochromatosis type 3 skos:exactMatch mesh:C537248 semapv:UnspecifiedMatching MONDO:0011418 dyslexia, susceptibility to, 3 skos:exactMatch OMIM:604254 dyslexia, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0011419 camera-Marugo-Cohen syndrome skos:exactMatch OMIM:604257 camera-marugo-cohen syndrome semapv:UnspecifiedMatching MONDO:0011419 camera-Marugo-Cohen syndrome skos:exactMatch UMLS:C1858661 semapv:UnspecifiedMatching MONDO:0011419 camera-Marugo-Cohen syndrome skos:exactMatch mesh:C537964 semapv:UnspecifiedMatching MONDO:0011420 short stature due to partial GHR deficiency skos:exactMatch OMIM:604271 growth hormone insensitivity, partial semapv:UnspecifiedMatching MONDO:0011420 short stature due to partial GHR deficiency skos:exactMatch Orphanet:314802 Short stature due to partial GHR deficiency semapv:UnspecifiedMatching MONDO:0011420 short stature due to partial GHR deficiency skos:exactMatch mesh:C565805 semapv:UnspecifiedMatching MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 skos:exactMatch DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 semapv:UnspecifiedMatching MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 skos:exactMatch OMIM:604273 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 1 semapv:UnspecifiedMatching MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 skos:exactMatch UMLS:C3276276 semapv:UnspecifiedMatching MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:exactMatch OMIM:604278 renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development semapv:UnspecifiedMatching MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:exactMatch Orphanet:93607 Autosomal recessive proximal renal tubular acidosis semapv:UnspecifiedMatching MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:exactMatch UMLS:C1970309 semapv:UnspecifiedMatching MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:exactMatch mesh:C567038 semapv:UnspecifiedMatching MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:exactMatch DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E semapv:UnspecifiedMatching MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:exactMatch OMIM:604286 muscular dystrophy, limb-girdle, autosomal recessive 4 semapv:UnspecifiedMatching MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:exactMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:UnspecifiedMatching MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:exactMatch SCTID:718850008 semapv:UnspecifiedMatching MONDO:0011424 Carney triad skos:exactMatch NCIT:C94833 Carney Triad semapv:UnspecifiedMatching MONDO:0011424 Carney triad skos:exactMatch OMIM:604287 carney triad semapv:UnspecifiedMatching MONDO:0011424 Carney triad skos:exactMatch Orphanet:139411 Carney triad semapv:UnspecifiedMatching MONDO:0011424 Carney triad skos:exactMatch SCTID:733492003 semapv:UnspecifiedMatching MONDO:0011424 Carney triad skos:exactMatch UMLS:C1858592 semapv:UnspecifiedMatching MONDO:0011424 Carney triad skos:exactMatch mesh:C565803 semapv:UnspecifiedMatching MONDO:0011425 dilated cardiomyopathy 1H skos:exactMatch DOID:0110429 dilated cardiomyopathy 1H semapv:UnspecifiedMatching MONDO:0011425 dilated cardiomyopathy 1H skos:exactMatch OMIM:604288 cardiomyopathy, dilated, 1h semapv:UnspecifiedMatching MONDO:0011425 dilated cardiomyopathy 1H skos:exactMatch UMLS:C1858591 semapv:UnspecifiedMatching MONDO:0011425 dilated cardiomyopathy 1H skos:exactMatch mesh:C536277 semapv:UnspecifiedMatching MONDO:0011426 aceruloplasminemia skos:exactMatch DOID:0050711 aceruloplasminemia semapv:UnspecifiedMatching MONDO:0011426 aceruloplasminemia skos:exactMatch OMIM:604290 aceruloplasminemia semapv:UnspecifiedMatching MONDO:0011426 aceruloplasminemia skos:exactMatch Orphanet:48818 Aceruloplasminemia semapv:UnspecifiedMatching MONDO:0011426 aceruloplasminemia skos:exactMatch SCTID:124224004 semapv:UnspecifiedMatching MONDO:0011427 Ascaris lumbricoides infection, susceptibility to skos:exactMatch OMIM:604291 ascaris lumbricoides infection, susceptibility to semapv:UnspecifiedMatching MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:exactMatch DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 semapv:UnspecifiedMatching MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:exactMatch OMIM:604292 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 semapv:UnspecifiedMatching MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:exactMatch mesh:C565799 semapv:UnspecifiedMatching MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch DOID:676 juvenile rheumatoid arthritis semapv:UnspecifiedMatching MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch NCIT:C114357 Juvenile Idiopathic Arthritis semapv:UnspecifiedMatching MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch OMIM:604302 rheumatoid arthritis, systemic juvenile semapv:UnspecifiedMatching MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch Orphanet:92 Juvenile idiopathic arthritis semapv:UnspecifiedMatching MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch SCTID:410502007 semapv:UnspecifiedMatching MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch mesh:D001171 semapv:UnspecifiedMatching MONDO:0011430 pulverulent cataract skos:exactMatch Orphanet:98984 Pulverulent cataract semapv:UnspecifiedMatching MONDO:0011430 pulverulent cataract skos:exactMatch UMLS:C1833118 semapv:UnspecifiedMatching MONDO:0011430 pulverulent cataract skos:exactMatch mesh:C565133 semapv:UnspecifiedMatching MONDO:0011431 MASS syndrome skos:exactMatch OMIM:604308 mass syndrome semapv:UnspecifiedMatching MONDO:0011431 MASS syndrome skos:exactMatch UMLS:C1858556 semapv:UnspecifiedMatching MONDO:0011431 MASS syndrome skos:exactMatch mesh:C536030 semapv:UnspecifiedMatching MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:exactMatch OMIM:604314 blepharophimosis with facial and genital anomalies and impaired intellectual development semapv:UnspecifiedMatching MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:exactMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:UnspecifiedMatching MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:exactMatch UMLS:C1858538 semapv:UnspecifiedMatching MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:exactMatch mesh:C565797 semapv:UnspecifiedMatching MONDO:0011433 anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome skos:exactMatch OMIM:604315 anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome semapv:UnspecifiedMatching MONDO:0011433 anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome skos:exactMatch UMLS:C1858537 semapv:UnspecifiedMatching MONDO:0011433 anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome skos:exactMatch mesh:C565796 semapv:UnspecifiedMatching MONDO:0011434 psoriasis 5, susceptibility to skos:exactMatch DOID:0111282 psoriasis 5 semapv:UnspecifiedMatching MONDO:0011434 psoriasis 5, susceptibility to skos:exactMatch OMIM:604316 psoriasis 5, susceptibility to semapv:UnspecifiedMatching MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:exactMatch DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations semapv:UnspecifiedMatching MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:exactMatch OMIM:604317 microcephaly 2, primary, autosomal recessive, with or without cortical malformations semapv:UnspecifiedMatching MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:exactMatch UMLS:C1858535 semapv:UnspecifiedMatching MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:exactMatch mesh:C565794 semapv:UnspecifiedMatching MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch DOID:0111064 distal spinal muscular atrophy 1 semapv:UnspecifiedMatching MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch OMIM:604320 neuronopathy, distal hereditary motor, autosomal recessive 1 semapv:UnspecifiedMatching MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:UnspecifiedMatching MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch SCTID:711483003 semapv:UnspecifiedMatching MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch UMLS:C1858517 semapv:UnspecifiedMatching MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch mesh:C536880 semapv:UnspecifiedMatching MONDO:0011437 microcephaly 4, primary, autosomal recessive skos:exactMatch DOID:0070291 primary autosomal recessive microcephaly 4 semapv:UnspecifiedMatching MONDO:0011437 microcephaly 4, primary, autosomal recessive skos:exactMatch OMIM:604321 microcephaly 4, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0011437 microcephaly 4, primary, autosomal recessive skos:exactMatch UMLS:C1858516 semapv:UnspecifiedMatching MONDO:0011437 microcephaly 4, primary, autosomal recessive skos:exactMatch mesh:C565792 semapv:UnspecifiedMatching MONDO:0011438 acne skos:exactMatch DOID:6543 acne semapv:UnspecifiedMatching MONDO:0011438 acne skos:exactMatch NCIT:C27195 Acne semapv:UnspecifiedMatching MONDO:0011439 spinocerebellar ataxia type 12 skos:exactMatch DOID:0050962 spinocerebellar ataxia type 12 semapv:UnspecifiedMatching MONDO:0011439 spinocerebellar ataxia type 12 skos:exactMatch NCIT:C154316 Spinocerebellar Ataxia Type 12 semapv:UnspecifiedMatching MONDO:0011439 spinocerebellar ataxia type 12 skos:exactMatch OMIM:604326 spinocerebellar ataxia 12 semapv:UnspecifiedMatching MONDO:0011439 spinocerebellar ataxia type 12 skos:exactMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:UnspecifiedMatching MONDO:0011439 spinocerebellar ataxia type 12 skos:exactMatch SCTID:719208005 semapv:UnspecifiedMatching MONDO:0011439 spinocerebellar ataxia type 12 skos:exactMatch UMLS:C1858501 semapv:UnspecifiedMatching MONDO:0011439 spinocerebellar ataxia type 12 skos:exactMatch mesh:C565790 semapv:UnspecifiedMatching MONDO:0011440 hypertension, essential, susceptibility to, 2 skos:exactMatch OMIM:604329 hypertension, essential, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch DOID:1811 reflex sympathetic dystrophy semapv:UnspecifiedMatching MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch NCIT:C85042 Complex Regional Pain Syndrome I semapv:UnspecifiedMatching MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch OMIM:604335 reflex sympathetic dystrophy semapv:UnspecifiedMatching MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:UnspecifiedMatching MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch SCTID:50642008 semapv:UnspecifiedMatching MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch UMLS:C0034931 semapv:UnspecifiedMatching MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch mesh:D012019 semapv:UnspecifiedMatching MONDO:0011442 advanced sleep phase syndrome 1 skos:exactMatch DOID:0110011 advanced sleep phase syndrome 1 semapv:UnspecifiedMatching MONDO:0011442 advanced sleep phase syndrome 1 skos:exactMatch OMIM:604348 advanced sleep phase syndrome, familial, 1 semapv:UnspecifiedMatching MONDO:0011442 advanced sleep phase syndrome 1 skos:exactMatch UMLS:C3807327 semapv:UnspecifiedMatching MONDO:0011443 febrile seizures, familial, 4 skos:exactMatch DOID:0111305 familial febrile seizures 4 semapv:UnspecifiedMatching MONDO:0011443 febrile seizures, familial, 4 skos:exactMatch OMIM:604352 febrile seizures, familial, 4 semapv:UnspecifiedMatching MONDO:0011443 febrile seizures, familial, 4 skos:exactMatch UMLS:C1858493 semapv:UnspecifiedMatching MONDO:0011443 febrile seizures, familial, 4 skos:exactMatch mesh:C565788 semapv:UnspecifiedMatching MONDO:0011444 Duane retraction syndrome 2 skos:exactMatch OMIM:604356 duane retraction syndrome 2 semapv:UnspecifiedMatching MONDO:0011444 Duane retraction syndrome 2 skos:exactMatch SCTID:128083007 semapv:UnspecifiedMatching MONDO:0011445 hereditary spastic paraplegia 11 skos:exactMatch DOID:0110764 hereditary spastic paraplegia 11 semapv:UnspecifiedMatching MONDO:0011445 hereditary spastic paraplegia 11 skos:exactMatch NCIT:C148317 Spastic Paraplegia 11 semapv:UnspecifiedMatching MONDO:0011445 hereditary spastic paraplegia 11 skos:exactMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:UnspecifiedMatching MONDO:0011445 hereditary spastic paraplegia 11 skos:exactMatch Orphanet:2822 Autosomal recessive spastic paraplegia type 11 semapv:UnspecifiedMatching MONDO:0011445 hereditary spastic paraplegia 11 skos:exactMatch SCTID:715491000 semapv:UnspecifiedMatching MONDO:0011446 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders skos:exactMatch OMIM:604363 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders semapv:UnspecifiedMatching MONDO:0011446 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders skos:exactMatch UMLS:C1858478 semapv:UnspecifiedMatching MONDO:0011446 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders skos:exactMatch mesh:C565786 semapv:UnspecifiedMatching MONDO:0011448 PPARG-related familial partial lipodystrophy skos:exactMatch DOID:0070204 familial partial lipodystrophy type 3 semapv:UnspecifiedMatching MONDO:0011448 PPARG-related familial partial lipodystrophy skos:exactMatch OMIM:604367 lipodystrophy, familial partial, iia 3 semapv:UnspecifiedMatching MONDO:0011448 PPARG-related familial partial lipodystrophy skos:exactMatch Orphanet:79083 PPARG-related familial partial lipodystrophy semapv:UnspecifiedMatching MONDO:0011449 Salla disease skos:exactMatch NCIT:C85067 Sialic Acid Storage Disease semapv:UnspecifiedMatching MONDO:0011449 Salla disease skos:exactMatch OMIM:604369 salla disease semapv:UnspecifiedMatching MONDO:0011449 Salla disease skos:exactMatch Orphanet:309334 Salla disease semapv:UnspecifiedMatching MONDO:0011449 Salla disease skos:exactMatch SCTID:87074006 semapv:UnspecifiedMatching MONDO:0011449 Salla disease skos:exactMatch UMLS:C1096903 semapv:UnspecifiedMatching MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:exactMatch OMIM:604370 breast-ovarian cancer, familial, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:exactMatch DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 semapv:UnspecifiedMatching MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:exactMatch OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 semapv:UnspecifiedMatching MONDO:0011452 hypotrichosis 7 skos:exactMatch DOID:0110704 hypotrichosis 7 semapv:UnspecifiedMatching MONDO:0011452 hypotrichosis 7 skos:exactMatch OMIM:604379 hypotrichosis 7 semapv:UnspecifiedMatching MONDO:0011452 hypotrichosis 7 skos:exactMatch mesh:C536973 semapv:UnspecifiedMatching MONDO:0011453 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia skos:exactMatch OMIM:604380 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia semapv:UnspecifiedMatching MONDO:0011453 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia skos:exactMatch UMLS:C1858422 semapv:UnspecifiedMatching MONDO:0011453 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia skos:exactMatch mesh:C565783 semapv:UnspecifiedMatching MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:exactMatch OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies semapv:UnspecifiedMatching MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:exactMatch Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome semapv:UnspecifiedMatching MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:exactMatch UMLS:C1858420 semapv:UnspecifiedMatching MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:exactMatch mesh:C565782 semapv:UnspecifiedMatching MONDO:0011455 lissencephaly, familial, with cleft palate and cerebellar hypoplasia skos:exactMatch OMIM:604382 lissencephaly, familial, with cleft palate and cerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0011455 lissencephaly, familial, with cleft palate and cerebellar hypoplasia skos:exactMatch UMLS:C1858419 semapv:UnspecifiedMatching MONDO:0011455 lissencephaly, familial, with cleft palate and cerebellar hypoplasia skos:exactMatch mesh:C565781 semapv:UnspecifiedMatching MONDO:0011456 nephronophthisis 3 skos:exactMatch DOID:0111114 nephronophthisis 3 semapv:UnspecifiedMatching MONDO:0011456 nephronophthisis 3 skos:exactMatch OMIM:604387 nephronophthisis 3 semapv:UnspecifiedMatching MONDO:0011456 nephronophthisis 3 skos:exactMatch UMLS:C1858392 semapv:UnspecifiedMatching MONDO:0011456 nephronophthisis 3 skos:exactMatch mesh:C565780 semapv:UnspecifiedMatching MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch OMIMPS:604391 semapv:UnspecifiedMatching MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch SCTID:700058006 semapv:UnspecifiedMatching MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch UMLS:C1858391 semapv:UnspecifiedMatching MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch mesh:C565779 semapv:UnspecifiedMatching MONDO:0011458 Leber congenital amaurosis 4 skos:exactMatch DOID:0110332 Leber congenital amaurosis 4 semapv:UnspecifiedMatching MONDO:0011458 Leber congenital amaurosis 4 skos:exactMatch OMIM:604393 leber congenital amaurosis 4 semapv:UnspecifiedMatching MONDO:0011458 Leber congenital amaurosis 4 skos:exactMatch UMLS:C1858386 semapv:UnspecifiedMatching MONDO:0011458 Leber congenital amaurosis 4 skos:exactMatch mesh:C565778 semapv:UnspecifiedMatching MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:exactMatch DOID:0110074 arrhythmogenic right ventricular dysplasia 5 semapv:UnspecifiedMatching MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:exactMatch OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 semapv:UnspecifiedMatching MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:exactMatch UMLS:C1858379 semapv:UnspecifiedMatching MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:exactMatch mesh:C565776 semapv:UnspecifiedMatching MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:exactMatch DOID:0110075 arrhythmogenic right ventricular dysplasia 6 semapv:UnspecifiedMatching MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:exactMatch OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 semapv:UnspecifiedMatching MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:exactMatch UMLS:C1858378 semapv:UnspecifiedMatching MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:exactMatch mesh:C565775 semapv:UnspecifiedMatching MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:exactMatch DOID:0111294 generalized epilepsy with febrile seizures plus 2 semapv:UnspecifiedMatching MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:exactMatch OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 semapv:UnspecifiedMatching MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:exactMatch UMLS:C1858673 semapv:UnspecifiedMatching MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:exactMatch mesh:C565810 semapv:UnspecifiedMatching MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch DOID:0080519 PAPA syndrome semapv:UnspecifiedMatching MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch NCIT:C119055 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne semapv:UnspecifiedMatching MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch OMIM:604416 pyogenic sterile arthritis, pyoderma gangrenosum, and acne semapv:UnspecifiedMatching MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch Orphanet:69126 PAPA syndrome semapv:UnspecifiedMatching MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch SCTID:724015007 semapv:UnspecifiedMatching MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch UMLS:C1858361 semapv:UnspecifiedMatching MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch mesh:C536253 semapv:UnspecifiedMatching MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:exactMatch OMIM:604431 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive semapv:UnspecifiedMatching MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:exactMatch Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy semapv:UnspecifiedMatching MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:exactMatch UMLS:C1858353 semapv:UnspecifiedMatching MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:exactMatch mesh:C565773 semapv:UnspecifiedMatching MONDO:0011464 spinocerebellar ataxia type 11 skos:exactMatch DOID:0050961 spinocerebellar ataxia type 11 semapv:UnspecifiedMatching MONDO:0011464 spinocerebellar ataxia type 11 skos:exactMatch OMIM:604432 spinocerebellar ataxia 11 semapv:UnspecifiedMatching MONDO:0011464 spinocerebellar ataxia type 11 skos:exactMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:UnspecifiedMatching MONDO:0011464 spinocerebellar ataxia type 11 skos:exactMatch SCTID:719207000 semapv:UnspecifiedMatching MONDO:0011464 spinocerebellar ataxia type 11 skos:exactMatch UMLS:C1858351 semapv:UnspecifiedMatching MONDO:0011464 spinocerebellar ataxia type 11 skos:exactMatch mesh:C565772 semapv:UnspecifiedMatching MONDO:0011465 infundibulocystic basal cell carcinoma skos:exactMatch DOID:4279 infundibulocystic basal cell carcinoma semapv:UnspecifiedMatching MONDO:0011465 infundibulocystic basal cell carcinoma skos:exactMatch NCIT:C27540 Skin Infundibulocystic Basal Cell Carcinoma semapv:UnspecifiedMatching MONDO:0011465 infundibulocystic basal cell carcinoma skos:exactMatch OMIM:604451 basal cell carcinoma, infundibulocystic semapv:UnspecifiedMatching MONDO:0011465 infundibulocystic basal cell carcinoma skos:exactMatch UMLS:C1304297 semapv:UnspecifiedMatching MONDO:0011465 infundibulocystic basal cell carcinoma skos:exactMatch mesh:C537655 semapv:UnspecifiedMatching MONDO:0011466 distal myopathy, Welander type skos:exactMatch OMIM:604454 welander distal myopathy semapv:UnspecifiedMatching MONDO:0011466 distal myopathy, Welander type skos:exactMatch Orphanet:603 Distal myopathy, Welander type semapv:UnspecifiedMatching MONDO:0011466 distal myopathy, Welander type skos:exactMatch UMLS:C0221054 semapv:UnspecifiedMatching MONDO:0011467 obsolete human herpesvirus type 6, integrated skos:exactMatch OMIM:604474 human herpesvirus iia 6, integrated semapv:UnspecifiedMatching MONDO:0011467 obsolete human herpesvirus type 6, integrated skos:exactMatch UMLS:C1858340 semapv:UnspecifiedMatching MONDO:0011467 obsolete human herpesvirus type 6, integrated skos:exactMatch mesh:C565771 semapv:UnspecifiedMatching MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:exactMatch OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia semapv:UnspecifiedMatching MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:exactMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:UnspecifiedMatching MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:exactMatch mesh:C535717 semapv:UnspecifiedMatching MONDO:0011470 hyperlipidemia, combined, 2 skos:exactMatch OMIM:604499 hyperlipidemia, familial combined, 2 semapv:UnspecifiedMatching MONDO:0011470 hyperlipidemia, combined, 2 skos:exactMatch UMLS:C1858308 semapv:UnspecifiedMatching MONDO:0011470 hyperlipidemia, combined, 2 skos:exactMatch mesh:C565766 semapv:UnspecifiedMatching MONDO:0011471 inflammatory bowel disease 3 skos:exactMatch DOID:0110891 inflammatory bowel disease 3 semapv:UnspecifiedMatching MONDO:0011471 inflammatory bowel disease 3 skos:exactMatch OMIM:604519 inflammatory bowel disease 3 semapv:UnspecifiedMatching MONDO:0011471 inflammatory bowel disease 3 skos:exactMatch UMLS:C1858303 semapv:UnspecifiedMatching MONDO:0011471 inflammatory bowel disease 3 skos:exactMatch mesh:C565764 semapv:UnspecifiedMatching MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:exactMatch OMIM:604536 ectodermal dysplasia/skin fragility syndrome semapv:UnspecifiedMatching MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:exactMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:UnspecifiedMatching MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:exactMatch SCTID:716699004 semapv:UnspecifiedMatching MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:exactMatch UMLS:C1858302 semapv:UnspecifiedMatching MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:exactMatch mesh:C536183 semapv:UnspecifiedMatching MONDO:0011473 Leber congenital amaurosis 5 skos:exactMatch DOID:0110215 Leber congenital amaurosis 5 semapv:UnspecifiedMatching MONDO:0011473 Leber congenital amaurosis 5 skos:exactMatch OMIM:604537 leber congenital amaurosis 5 semapv:UnspecifiedMatching MONDO:0011473 Leber congenital amaurosis 5 skos:exactMatch UMLS:C1858301 semapv:UnspecifiedMatching MONDO:0011473 Leber congenital amaurosis 5 skos:exactMatch mesh:C536602 semapv:UnspecifiedMatching MONDO:0011474 progressive familial heart block type IB skos:exactMatch DOID:0111076 progressive familial heart block type IB semapv:UnspecifiedMatching MONDO:0011474 progressive familial heart block type IB skos:exactMatch OMIM:604559 progressive familial heart block, iia 1b semapv:UnspecifiedMatching MONDO:0011474 progressive familial heart block type IB skos:exactMatch SCTID:698250005 semapv:UnspecifiedMatching MONDO:0011474 progressive familial heart block type IB skos:exactMatch mesh:C567037 semapv:UnspecifiedMatching MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch DOID:0110190 Charcot-Marie-Tooth disease type 4B2 semapv:UnspecifiedMatching MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch OMIM:604563 charcot-marie-tooth disease, iia 4b2 semapv:UnspecifiedMatching MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:UnspecifiedMatching MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch SCTID:715800000 semapv:UnspecifiedMatching MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch UMLS:C1858278 semapv:UnspecifiedMatching MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch mesh:C535421 semapv:UnspecifiedMatching MONDO:0011476 MHC class I deficiency skos:exactMatch DOID:0060009 MHC class I deficiency semapv:UnspecifiedMatching MONDO:0011476 MHC class I deficiency skos:exactMatch OMIM:604571 bare lymphocyte syndrome, iia 1 semapv:UnspecifiedMatching MONDO:0011476 MHC class I deficiency skos:exactMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:UnspecifiedMatching MONDO:0011476 MHC class I deficiency skos:exactMatch SCTID:725136003 semapv:UnspecifiedMatching MONDO:0011476 MHC class I deficiency skos:exactMatch UMLS:C1858266 semapv:UnspecifiedMatching MONDO:0011477 tooth agenesis, selective, 3 skos:exactMatch OMIM:604625 tooth agenesis, selective, 3 semapv:UnspecifiedMatching MONDO:0011477 tooth agenesis, selective, 3 skos:exactMatch UMLS:C1970291 semapv:UnspecifiedMatching MONDO:0011477 tooth agenesis, selective, 3 skos:exactMatch mesh:C567036 semapv:UnspecifiedMatching MONDO:0011478 growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia skos:exactMatch OMIM:604690 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia semapv:UnspecifiedMatching MONDO:0011478 growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia skos:exactMatch UMLS:C1858182 semapv:UnspecifiedMatching MONDO:0011478 growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia skos:exactMatch mesh:C565755 semapv:UnspecifiedMatching MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch DOID:0111154 postural orthostatic tachycardia syndrome semapv:UnspecifiedMatching MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch NCIT:C85020 Postural Orthostatic Tachycardia Syndrome semapv:UnspecifiedMatching MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch OMIM:604715 orthostatic intolerance semapv:UnspecifiedMatching MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency semapv:UnspecifiedMatching MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch SCTID:8074002 semapv:UnspecifiedMatching MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch mesh:D054972 semapv:UnspecifiedMatching MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:exactMatch DOID:0110550 autosomal dominant nonsyndromic deafness 20 semapv:UnspecifiedMatching MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:exactMatch OMIM:604717 deafness, autosomal dominant 20 semapv:UnspecifiedMatching MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:exactMatch UMLS:C1858172 semapv:UnspecifiedMatching MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:exactMatch mesh:C565754 semapv:UnspecifiedMatching MONDO:0011481 craniosynostosis 2 skos:exactMatch OMIM:604757 craniosynostosis 2 semapv:UnspecifiedMatching MONDO:0011481 craniosynostosis 2 skos:exactMatch Orphanet:1541 Craniosynostosis, Boston type semapv:UnspecifiedMatching MONDO:0011481 craniosynostosis 2 skos:exactMatch SCTID:720817008 semapv:UnspecifiedMatching MONDO:0011482 dilated cardiomyopathy 1I skos:exactMatch DOID:0110431 dilated cardiomyopathy 1I semapv:UnspecifiedMatching MONDO:0011482 dilated cardiomyopathy 1I skos:exactMatch OMIM:604765 cardiomyopathy, dilated, 1i semapv:UnspecifiedMatching MONDO:0011482 dilated cardiomyopathy 1I skos:exactMatch UMLS:C1858154 semapv:UnspecifiedMatching MONDO:0011482 dilated cardiomyopathy 1I skos:exactMatch mesh:C565752 semapv:UnspecifiedMatching MONDO:0011483 polycystic bone disease skos:exactMatch OMIM:604771 polycystic bone disease semapv:UnspecifiedMatching MONDO:0011483 polycystic bone disease skos:exactMatch UMLS:C1858143 semapv:UnspecifiedMatching MONDO:0011483 polycystic bone disease skos:exactMatch mesh:C536324 semapv:UnspecifiedMatching MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:exactMatch DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 semapv:UnspecifiedMatching MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:exactMatch NCIT:C123414 Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 semapv:UnspecifiedMatching MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:exactMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:exactMatch UMLS:C1631597 semapv:UnspecifiedMatching MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:exactMatch mesh:C563409 semapv:UnspecifiedMatching MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:exactMatch DOID:0060714 autosomal recessive congenital ichthyosis 5 semapv:UnspecifiedMatching MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:exactMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:UnspecifiedMatching MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:exactMatch mesh:C537265 semapv:UnspecifiedMatching MONDO:0011486 congenital muscular dystrophy 1B skos:exactMatch DOID:0110634 congenital muscular dystrophy 1B semapv:UnspecifiedMatching MONDO:0011486 congenital muscular dystrophy 1B skos:exactMatch OMIM:604801 muscular dystrophy, congenital, 1b semapv:UnspecifiedMatching MONDO:0011486 congenital muscular dystrophy 1B skos:exactMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:UnspecifiedMatching MONDO:0011486 congenital muscular dystrophy 1B skos:exactMatch SCTID:764944006 semapv:UnspecifiedMatching MONDO:0011486 congenital muscular dystrophy 1B skos:exactMatch UMLS:C1858118 semapv:UnspecifiedMatching MONDO:0011486 congenital muscular dystrophy 1B skos:exactMatch mesh:C565748 semapv:UnspecifiedMatching MONDO:0011487 Huntington disease-like 3 skos:exactMatch OMIM:604802 huntington disease-like 3 semapv:UnspecifiedMatching MONDO:0011487 Huntington disease-like 3 skos:exactMatch Orphanet:157946 Huntington disease-like 3 semapv:UnspecifiedMatching MONDO:0011487 Huntington disease-like 3 skos:exactMatch UMLS:C1858114 semapv:UnspecifiedMatching MONDO:0011487 Huntington disease-like 3 skos:exactMatch mesh:C565747 semapv:UnspecifiedMatching MONDO:0011488 microcephaly 3, primary, autosomal recessive skos:exactMatch DOID:0070286 primary autosomal recessive microcephaly 3 semapv:UnspecifiedMatching MONDO:0011488 microcephaly 3, primary, autosomal recessive skos:exactMatch OMIM:604804 microcephaly 3, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0011488 microcephaly 3, primary, autosomal recessive skos:exactMatch UMLS:C1858108 semapv:UnspecifiedMatching MONDO:0011488 microcephaly 3, primary, autosomal recessive skos:exactMatch mesh:C565746 semapv:UnspecifiedMatching MONDO:0011489 hereditary spastic paraplegia 12 skos:exactMatch DOID:0110765 hereditary spastic paraplegia 12 semapv:UnspecifiedMatching MONDO:0011489 hereditary spastic paraplegia 12 skos:exactMatch OMIM:604805 spastic paraplegia 12, autosomal dominant semapv:UnspecifiedMatching MONDO:0011489 hereditary spastic paraplegia 12 skos:exactMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:UnspecifiedMatching MONDO:0011489 hereditary spastic paraplegia 12 skos:exactMatch SCTID:763374004 semapv:UnspecifiedMatching MONDO:0011489 hereditary spastic paraplegia 12 skos:exactMatch UMLS:C1858106 semapv:UnspecifiedMatching MONDO:0011489 hereditary spastic paraplegia 12 skos:exactMatch mesh:C537484 semapv:UnspecifiedMatching MONDO:0011490 diffuse panbronchiolitis skos:exactMatch OMIM:604809 panbronchiolitis, diffuse semapv:UnspecifiedMatching MONDO:0011490 diffuse panbronchiolitis skos:exactMatch Orphanet:171700 Diffuse panbronchiolitis semapv:UnspecifiedMatching MONDO:0011490 diffuse panbronchiolitis skos:exactMatch SCTID:430476004 semapv:UnspecifiedMatching MONDO:0011490 diffuse panbronchiolitis skos:exactMatch UMLS:C0878555 semapv:UnspecifiedMatching MONDO:0011490 diffuse panbronchiolitis skos:exactMatch mesh:C536174 semapv:UnspecifiedMatching MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 skos:exactMatch DOID:0111321 idiopathic generalized epilepsy 7 semapv:UnspecifiedMatching MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 skos:exactMatch OMIM:604827 epilepsy, idiopathic generalized, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0011492 mandibulofacial dysostosis syndrome, Bauru type skos:exactMatch OMIM:604830 mandibulofacial dysostosis syndrome, bauru iia semapv:UnspecifiedMatching MONDO:0011492 mandibulofacial dysostosis syndrome, Bauru type skos:exactMatch UMLS:C1858101 semapv:UnspecifiedMatching MONDO:0011492 mandibulofacial dysostosis syndrome, Bauru type skos:exactMatch mesh:C565744 semapv:UnspecifiedMatching MONDO:0011493 Stickler syndrome type 2 skos:exactMatch DOID:0080675 Stickler syndrome 2 semapv:UnspecifiedMatching MONDO:0011493 Stickler syndrome type 2 skos:exactMatch NCIT:C74985 Stickler Syndrome Type 2 semapv:UnspecifiedMatching MONDO:0011493 Stickler syndrome type 2 skos:exactMatch OMIM:604841 stickler syndrome, iia 2 semapv:UnspecifiedMatching MONDO:0011493 Stickler syndrome type 2 skos:exactMatch Orphanet:90654 Stickler syndrome type 2 semapv:UnspecifiedMatching MONDO:0011493 Stickler syndrome type 2 skos:exactMatch UMLS:C1858084 semapv:UnspecifiedMatching MONDO:0011493 Stickler syndrome type 2 skos:exactMatch mesh:C537493 semapv:UnspecifiedMatching MONDO:0011494 hyaluronan metabolism, defect 1N skos:exactMatch OMIM:604855 hyaluronan metabolism, defect 1n semapv:UnspecifiedMatching MONDO:0011494 hyaluronan metabolism, defect 1N skos:exactMatch UMLS:C1858083 semapv:UnspecifiedMatching MONDO:0011494 hyaluronan metabolism, defect 1N skos:exactMatch mesh:C565742 semapv:UnspecifiedMatching MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:exactMatch OMIM:604864 osteoarthritis with mild chondrodysplasia semapv:UnspecifiedMatching MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:exactMatch Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:UnspecifiedMatching MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:exactMatch SCTID:254064009 semapv:UnspecifiedMatching MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:exactMatch mesh:C565740 semapv:UnspecifiedMatching MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:exactMatch OMIM:604901 north american indian childhood cirrhosis semapv:UnspecifiedMatching MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:exactMatch Orphanet:168583 Hereditary North American Indian childhood cirrhosis semapv:UnspecifiedMatching MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:exactMatch SCTID:699189004 semapv:UnspecifiedMatching MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:exactMatch UMLS:C1858051 semapv:UnspecifiedMatching MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:exactMatch mesh:C565737 semapv:UnspecifiedMatching MONDO:0011498 schizophrenia 9 skos:exactMatch DOID:0070085 schizophrenia 9 semapv:UnspecifiedMatching MONDO:0011498 schizophrenia 9 skos:exactMatch OMIM:604906 schizophrenia 9 semapv:UnspecifiedMatching MONDO:0011498 schizophrenia 9 skos:exactMatch UMLS:C1858050 semapv:UnspecifiedMatching MONDO:0011500 Becker nevus syndrome skos:exactMatch OMIM:604919 becker nevus syndrome semapv:UnspecifiedMatching MONDO:0011500 Becker nevus syndrome skos:exactMatch Orphanet:64755 Becker nevus syndrome semapv:UnspecifiedMatching MONDO:0011500 Becker nevus syndrome skos:exactMatch UMLS:C1858042 semapv:UnspecifiedMatching MONDO:0011500 Becker nevus syndrome skos:exactMatch mesh:C565735 semapv:UnspecifiedMatching MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:exactMatch OMIM:604922 cortical defects, wormian bones, and dentinogenesis imperfecta semapv:UnspecifiedMatching MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:exactMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:UnspecifiedMatching MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:exactMatch UMLS:C1858032 semapv:UnspecifiedMatching MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:exactMatch mesh:C565734 semapv:UnspecifiedMatching MONDO:0011502 Wolfram syndrome 2 skos:exactMatch DOID:0110630 Wolfram syndrome 2 semapv:UnspecifiedMatching MONDO:0011502 Wolfram syndrome 2 skos:exactMatch OMIM:604928 wolfram syndrome 2 semapv:UnspecifiedMatching MONDO:0011502 Wolfram syndrome 2 skos:exactMatch UMLS:C1858028 semapv:UnspecifiedMatching MONDO:0011502 Wolfram syndrome 2 skos:exactMatch mesh:C565733 semapv:UnspecifiedMatching MONDO:0011503 cortisone reductase deficiency 1 skos:exactMatch DOID:0090141 cortisone reductase deficiency 1 semapv:UnspecifiedMatching MONDO:0011503 cortisone reductase deficiency 1 skos:exactMatch NCIT:C131849 Hexose-6-phosphate Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0011503 cortisone reductase deficiency 1 skos:exactMatch OMIM:604931 cortisone reductase deficiency 1 semapv:UnspecifiedMatching MONDO:0011503 cortisone reductase deficiency 1 skos:exactMatch UMLS:C3551716 semapv:UnspecifiedMatching MONDO:0011504 NDE1-related microhydranencephaly skos:exactMatch OMIM:605013 microhydranencephaly semapv:UnspecifiedMatching MONDO:0011504 NDE1-related microhydranencephaly skos:exactMatch Orphanet:443162 NDE1-related microhydranencephaly semapv:UnspecifiedMatching MONDO:0011504 NDE1-related microhydranencephaly skos:exactMatch UMLS:C1857977 semapv:UnspecifiedMatching MONDO:0011504 NDE1-related microhydranencephaly skos:exactMatch mesh:C537555 semapv:UnspecifiedMatching MONDO:0011505 familial hypobetalipoproteinemia 2 skos:exactMatch DOID:0111061 familial hypobetalipoproteinemia 2 semapv:UnspecifiedMatching MONDO:0011505 familial hypobetalipoproteinemia 2 skos:exactMatch OMIM:605019 hypobetalipoproteinemia, familial, 2 semapv:UnspecifiedMatching MONDO:0011505 familial hypobetalipoproteinemia 2 skos:exactMatch UMLS:C1857970 semapv:UnspecifiedMatching MONDO:0011505 familial hypobetalipoproteinemia 2 skos:exactMatch mesh:C565732 semapv:UnspecifiedMatching MONDO:0011506 familial infantile myoclonic epilepsy skos:exactMatch OMIM:605021 myoclonic epilepsy, familial infantile semapv:UnspecifiedMatching MONDO:0011506 familial infantile myoclonic epilepsy skos:exactMatch Orphanet:352582 Familial infantile myoclonic epilepsy semapv:UnspecifiedMatching MONDO:0011506 familial infantile myoclonic epilepsy skos:exactMatch UMLS:C0917800 semapv:UnspecifiedMatching MONDO:0011507 diabetes mellitus, congenital autoimmune skos:exactMatch OMIM:605026 diabetes mellitus, congenital autoimmune semapv:UnspecifiedMatching MONDO:0011507 diabetes mellitus, congenital autoimmune skos:exactMatch UMLS:C1857958 semapv:UnspecifiedMatching MONDO:0011507 diabetes mellitus, congenital autoimmune skos:exactMatch mesh:C565730 semapv:UnspecifiedMatching MONDO:0011508 lymphoma, non-Hodgkin, familial skos:exactMatch OMIM:605027 lymphoma, non-hodgkin, familial semapv:UnspecifiedMatching MONDO:0011508 lymphoma, non-Hodgkin, familial skos:exactMatch SCTID:118601006 semapv:UnspecifiedMatching MONDO:0011509 low density lipoprotein cholesterol, mild elevation of skos:exactMatch OMIM:605028 low density lipoprotein cholesterol, mild elevation of semapv:UnspecifiedMatching MONDO:0011510 Bohring-Opitz syndrome skos:exactMatch NCIT:C131533 Bohring-Opitz Syndrome semapv:UnspecifiedMatching MONDO:0011510 Bohring-Opitz syndrome skos:exactMatch OMIM:605039 bohring-opitz syndrome semapv:UnspecifiedMatching MONDO:0011510 Bohring-Opitz syndrome skos:exactMatch Orphanet:97297 Bohring-Opitz syndrome semapv:UnspecifiedMatching MONDO:0011510 Bohring-Opitz syndrome skos:exactMatch SCTID:720565000 semapv:UnspecifiedMatching MONDO:0011510 Bohring-Opitz syndrome skos:exactMatch UMLS:C0796232 semapv:UnspecifiedMatching MONDO:0011510 Bohring-Opitz syndrome skos:exactMatch mesh:C537419 semapv:UnspecifiedMatching MONDO:0011511 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia skos:exactMatch OMIM:605040 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia semapv:UnspecifiedMatching MONDO:0011511 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia skos:exactMatch UMLS:C1857942 semapv:UnspecifiedMatching MONDO:0011511 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia skos:exactMatch mesh:C565729 semapv:UnspecifiedMatching MONDO:0011512 Brooke-Spiegler syndrome skos:exactMatch DOID:0050693 Brooke-Spiegler syndrome semapv:UnspecifiedMatching MONDO:0011512 Brooke-Spiegler syndrome skos:exactMatch OMIM:605041 brooke-spiegler syndrome semapv:UnspecifiedMatching MONDO:0011512 Brooke-Spiegler syndrome skos:exactMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:UnspecifiedMatching MONDO:0011512 Brooke-Spiegler syndrome skos:exactMatch SCTID:703531009 semapv:UnspecifiedMatching MONDO:0011512 Brooke-Spiegler syndrome skos:exactMatch UMLS:C1857941 semapv:UnspecifiedMatching MONDO:0011513 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:exactMatch OMIM:605055 alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology semapv:UnspecifiedMatching MONDO:0011513 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:exactMatch UMLS:C1857933 semapv:UnspecifiedMatching MONDO:0011513 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:exactMatch mesh:C565728 semapv:UnspecifiedMatching MONDO:0011514 tricuspid atresia skos:exactMatch DOID:0080169 tricuspid atresia semapv:UnspecifiedMatching MONDO:0011514 tricuspid atresia skos:exactMatch NCIT:C85202 Tricuspid Valve Atresia semapv:UnspecifiedMatching MONDO:0011514 tricuspid atresia skos:exactMatch OMIM:605067 tricuspid atresia semapv:UnspecifiedMatching MONDO:0011514 tricuspid atresia skos:exactMatch Orphanet:1209 Tricuspid atresia semapv:UnspecifiedMatching MONDO:0011514 tricuspid atresia skos:exactMatch SCTID:63042009 semapv:UnspecifiedMatching MONDO:0011514 tricuspid atresia skos:exactMatch UMLS:C0243002 semapv:UnspecifiedMatching MONDO:0011514 tricuspid atresia skos:exactMatch mesh:D018785 semapv:UnspecifiedMatching MONDO:0011516 early response to neural induction gene skos:exactMatch OMIM:605105 early response to neural induction gene semapv:UnspecifiedMatching MONDO:0011517 pseudohyperaldosteronism type 2 skos:exactMatch OMIM:605115 hypertension, early-onset, autosomal dominant, with severe exacerbation 1n pregnancy semapv:UnspecifiedMatching MONDO:0011517 pseudohyperaldosteronism type 2 skos:exactMatch Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor semapv:UnspecifiedMatching MONDO:0011517 pseudohyperaldosteronism type 2 skos:exactMatch SCTID:766937004 semapv:UnspecifiedMatching MONDO:0011517 pseudohyperaldosteronism type 2 skos:exactMatch UMLS:C1854631 semapv:UnspecifiedMatching MONDO:0011517 pseudohyperaldosteronism type 2 skos:exactMatch mesh:C565359 semapv:UnspecifiedMatching MONDO:0011518 Wiedemann-Steiner syndrome skos:exactMatch OMIM:605130 wiedemann-steiner syndrome semapv:UnspecifiedMatching MONDO:0011518 Wiedemann-Steiner syndrome skos:exactMatch Orphanet:319182 Wiedemann-Steiner syndrome semapv:UnspecifiedMatching MONDO:0011518 Wiedemann-Steiner syndrome skos:exactMatch mesh:C536704 semapv:UnspecifiedMatching MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:exactMatch DOID:0110553 autosomal dominant nonsyndromic deafness 23 semapv:UnspecifiedMatching MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:exactMatch OMIM:605192 deafness, autosomal dominant 23 semapv:UnspecifiedMatching MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:exactMatch UMLS:C1854594 semapv:UnspecifiedMatching MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:exactMatch mesh:C565357 semapv:UnspecifiedMatching MONDO:0011520 systemic lupus erythematosus, susceptibility to, 2 skos:exactMatch OMIM:605218 systemic lupus erythematosus, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011520 systemic lupus erythematosus, susceptibility to, 2 skos:exactMatch UMLS:C1854577 semapv:UnspecifiedMatching MONDO:0011521 inflammatory bowel disease 7 skos:exactMatch DOID:0110882 inflammatory bowel disease 7 semapv:UnspecifiedMatching MONDO:0011521 inflammatory bowel disease 7 skos:exactMatch OMIM:605225 inflammatory bowel disease 7 semapv:UnspecifiedMatching MONDO:0011521 inflammatory bowel disease 7 skos:exactMatch UMLS:C1854573 semapv:UnspecifiedMatching MONDO:0011521 inflammatory bowel disease 7 skos:exactMatch mesh:C565353 semapv:UnspecifiedMatching MONDO:0011522 hereditary spastic paraplegia 14 skos:exactMatch DOID:0110767 hereditary spastic paraplegia 14 semapv:UnspecifiedMatching MONDO:0011522 hereditary spastic paraplegia 14 skos:exactMatch OMIM:605229 spastic paraplegia 14, autosomal recessive semapv:UnspecifiedMatching MONDO:0011522 hereditary spastic paraplegia 14 skos:exactMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:UnspecifiedMatching MONDO:0011522 hereditary spastic paraplegia 14 skos:exactMatch UMLS:C1854568 semapv:UnspecifiedMatching MONDO:0011522 hereditary spastic paraplegia 14 skos:exactMatch mesh:C537486 semapv:UnspecifiedMatching MONDO:0011523 Bardet-Biedl syndrome 6 skos:exactMatch DOID:0110128 Bardet-Biedl syndrome 6 semapv:UnspecifiedMatching MONDO:0011523 Bardet-Biedl syndrome 6 skos:exactMatch OMIM:605231 bardet-biedl syndrome 6 semapv:UnspecifiedMatching MONDO:0011523 Bardet-Biedl syndrome 6 skos:exactMatch UMLS:C1858054 semapv:UnspecifiedMatching MONDO:0011523 Bardet-Biedl syndrome 6 skos:exactMatch mesh:C565738 semapv:UnspecifiedMatching MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:exactMatch OMIM:605233 dianzani autoimmune lymphoproliferative disease semapv:UnspecifiedMatching MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:exactMatch Orphanet:275523 Dianzani autoimmune lymphoproliferative disease semapv:UnspecifiedMatching MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:exactMatch SCTID:721093000 semapv:UnspecifiedMatching MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:exactMatch UMLS:C2931071 semapv:UnspecifiedMatching MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:exactMatch mesh:C535950 semapv:UnspecifiedMatching MONDO:0011525 Carney complex type 2 skos:exactMatch OMIM:605244 carney complex, iia 2 semapv:UnspecifiedMatching MONDO:0011526 obsolete Sebastian syndrome skos:exactMatch NCIT:C131650 Sebastian Syndrome semapv:UnspecifiedMatching MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:exactMatch DOID:0110195 Charcot-Marie-Tooth disease type 4E semapv:UnspecifiedMatching MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:exactMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:UnspecifiedMatching MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:exactMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:UnspecifiedMatching MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:exactMatch SCTID:763135001 semapv:UnspecifiedMatching MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:exactMatch mesh:C535301 semapv:UnspecifiedMatching MONDO:0011528 hyper-IgM syndrome type 2 skos:exactMatch DOID:0060758 immunodeficiency with hyper-IgM type 2 semapv:UnspecifiedMatching MONDO:0011528 hyper-IgM syndrome type 2 skos:exactMatch NCIT:C129074 Immunodeficiency with Hyper-IgM Type 2 semapv:UnspecifiedMatching MONDO:0011528 hyper-IgM syndrome type 2 skos:exactMatch OMIM:605258 immunodeficiency with hyper-igm, iia 2 semapv:UnspecifiedMatching MONDO:0011528 hyper-IgM syndrome type 2 skos:exactMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:UnspecifiedMatching MONDO:0011528 hyper-IgM syndrome type 2 skos:exactMatch SCTID:403836001 semapv:UnspecifiedMatching MONDO:0011529 spinocerebellar ataxia type 13 skos:exactMatch DOID:0050963 spinocerebellar ataxia type 13 semapv:UnspecifiedMatching MONDO:0011529 spinocerebellar ataxia type 13 skos:exactMatch OMIM:605259 spinocerebellar ataxia 13 semapv:UnspecifiedMatching MONDO:0011529 spinocerebellar ataxia type 13 skos:exactMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:UnspecifiedMatching MONDO:0011529 spinocerebellar ataxia type 13 skos:exactMatch SCTID:719209002 semapv:UnspecifiedMatching MONDO:0011529 spinocerebellar ataxia type 13 skos:exactMatch UMLS:C1854488 semapv:UnspecifiedMatching MONDO:0011529 spinocerebellar ataxia type 13 skos:exactMatch mesh:C537195 semapv:UnspecifiedMatching MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:exactMatch OMIM:605274 mesomelic dysplasia, savarirayan iia semapv:UnspecifiedMatching MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:exactMatch Orphanet:85170 Mesomelic dysplasia, Savarirayan type semapv:UnspecifiedMatching MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:exactMatch SCTID:715652002 semapv:UnspecifiedMatching MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:exactMatch UMLS:C1854470 semapv:UnspecifiedMatching MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:exactMatch mesh:C565349 semapv:UnspecifiedMatching MONDO:0011531 Noonan syndrome 2 skos:exactMatch DOID:0060580 Noonan syndrome 2 semapv:UnspecifiedMatching MONDO:0011531 Noonan syndrome 2 skos:exactMatch NCIT:C176930 Noonan Syndrome 2 semapv:UnspecifiedMatching MONDO:0011531 Noonan syndrome 2 skos:exactMatch OMIM:605275 noonan syndrome 2 semapv:UnspecifiedMatching MONDO:0011531 Noonan syndrome 2 skos:exactMatch UMLS:C1854469 semapv:UnspecifiedMatching MONDO:0011531 Noonan syndrome 2 skos:exactMatch mesh:C548081 semapv:UnspecifiedMatching MONDO:0011532 hereditary spastic paraplegia 13 skos:exactMatch DOID:0110766 hereditary spastic paraplegia 13 semapv:UnspecifiedMatching MONDO:0011532 hereditary spastic paraplegia 13 skos:exactMatch OMIM:605280 spastic paraplegia 13, autosomal dominant semapv:UnspecifiedMatching MONDO:0011532 hereditary spastic paraplegia 13 skos:exactMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:UnspecifiedMatching MONDO:0011532 hereditary spastic paraplegia 13 skos:exactMatch UMLS:C1854467 semapv:UnspecifiedMatching MONDO:0011532 hereditary spastic paraplegia 13 skos:exactMatch mesh:C537485 semapv:UnspecifiedMatching MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:exactMatch DOID:0050814 temtamy preaxial brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:exactMatch OMIM:605282 temtamy preaxial brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:exactMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:exactMatch UMLS:C1854466 semapv:UnspecifiedMatching MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:exactMatch mesh:C536958 semapv:UnspecifiedMatching MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:exactMatch DOID:0110196 Charcot-Marie-Tooth disease type 4G semapv:UnspecifiedMatching MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:exactMatch OMIM:605285 neuropathy, hereditary motor and sensory, russe iia semapv:UnspecifiedMatching MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:exactMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:UnspecifiedMatching MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:exactMatch SCTID:715799004 semapv:UnspecifiedMatching MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:exactMatch UMLS:C1854449 semapv:UnspecifiedMatching MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:exactMatch mesh:C535813 semapv:UnspecifiedMatching MONDO:0011535 split hand-foot malformation 4 skos:exactMatch DOID:0090023 split hand-foot malformation 4 semapv:UnspecifiedMatching MONDO:0011535 split hand-foot malformation 4 skos:exactMatch OMIM:605289 split-hand/foot malformation 4 semapv:UnspecifiedMatching MONDO:0011535 split hand-foot malformation 4 skos:exactMatch mesh:C565344 semapv:UnspecifiedMatching MONDO:0011536 optic atrophy 4 skos:exactMatch DOID:0111440 optic atrophy 4 semapv:UnspecifiedMatching MONDO:0011536 optic atrophy 4 skos:exactMatch OMIM:605293 optic atrophy 4 semapv:UnspecifiedMatching MONDO:0011536 optic atrophy 4 skos:exactMatch UMLS:C1854430 semapv:UnspecifiedMatching MONDO:0011536 optic atrophy 4 skos:exactMatch mesh:C565343 semapv:UnspecifiedMatching MONDO:0011537 macrocephaly-autism syndrome skos:exactMatch DOID:0060867 macrocephaly-autism syndrome semapv:UnspecifiedMatching MONDO:0011537 macrocephaly-autism syndrome skos:exactMatch OMIM:605309 macrocephaly/autism syndrome semapv:UnspecifiedMatching MONDO:0011537 macrocephaly-autism syndrome skos:exactMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:UnspecifiedMatching MONDO:0011537 macrocephaly-autism syndrome skos:exactMatch UMLS:C1854416 semapv:UnspecifiedMatching MONDO:0011537 macrocephaly-autism syndrome skos:exactMatch mesh:C565342 semapv:UnspecifiedMatching MONDO:0011538 frontoocular syndrome skos:exactMatch OMIM:605321 frontoocular syndrome semapv:UnspecifiedMatching MONDO:0011538 frontoocular syndrome skos:exactMatch UMLS:C1854405 semapv:UnspecifiedMatching MONDO:0011538 frontoocular syndrome skos:exactMatch mesh:C565340 semapv:UnspecifiedMatching MONDO:0011539 nemaline myopathy 5 skos:exactMatch DOID:0110936 nemaline myopathy 5A semapv:UnspecifiedMatching MONDO:0011539 nemaline myopathy 5 skos:exactMatch OMIM:605355 nemaline myopathy 5a, autosomal recessive, severe infantile semapv:UnspecifiedMatching MONDO:0011539 nemaline myopathy 5 skos:exactMatch Orphanet:98902 Amish nemaline myopathy semapv:UnspecifiedMatching MONDO:0011539 nemaline myopathy 5 skos:exactMatch UMLS:C1854380 semapv:UnspecifiedMatching MONDO:0011539 nemaline myopathy 5 skos:exactMatch mesh:C538397 semapv:UnspecifiedMatching MONDO:0011540 spinocerebellar ataxia type 14 skos:exactMatch DOID:0050964 spinocerebellar ataxia type 14 semapv:UnspecifiedMatching MONDO:0011540 spinocerebellar ataxia type 14 skos:exactMatch OMIM:605361 spinocerebellar ataxia 14 semapv:UnspecifiedMatching MONDO:0011540 spinocerebellar ataxia type 14 skos:exactMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:UnspecifiedMatching MONDO:0011540 spinocerebellar ataxia type 14 skos:exactMatch SCTID:719210007 semapv:UnspecifiedMatching MONDO:0011540 spinocerebellar ataxia type 14 skos:exactMatch UMLS:C1854369 semapv:UnspecifiedMatching MONDO:0011540 spinocerebellar ataxia type 14 skos:exactMatch mesh:C537196 semapv:UnspecifiedMatching MONDO:0011541 dilated cardiomyopathy 1J skos:exactMatch DOID:0110440 dilated cardiomyopathy 1J semapv:UnspecifiedMatching MONDO:0011541 dilated cardiomyopathy 1J skos:exactMatch OMIM:605362 cardiomyopathy, dilated, 1j semapv:UnspecifiedMatching MONDO:0011541 dilated cardiomyopathy 1J skos:exactMatch Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0011541 dilated cardiomyopathy 1J skos:exactMatch UMLS:C1854368 semapv:UnspecifiedMatching MONDO:0011541 dilated cardiomyopathy 1J skos:exactMatch mesh:C565337 semapv:UnspecifiedMatching MONDO:0011542 psoriasis 6, susceptibility to skos:exactMatch DOID:0111290 psoriasis 6 semapv:UnspecifiedMatching MONDO:0011542 psoriasis 6, susceptibility to skos:exactMatch OMIM:605364 psoriasis 6, susceptibility to semapv:UnspecifiedMatching MONDO:0011543 obsolete BRCA3 skos:exactMatch OMIM:605365 semapv:UnspecifiedMatching MONDO:0011543 obsolete BRCA3 skos:exactMatch UMLS:C1854365 semapv:UnspecifiedMatching MONDO:0011543 obsolete BRCA3 skos:exactMatch mesh:C565336 semapv:UnspecifiedMatching MONDO:0011544 paragangliomas 3 skos:exactMatch OMIM:605373 pheochromocytoma/paraganglioma syndrome 3 semapv:UnspecifiedMatching MONDO:0011544 paragangliomas 3 skos:exactMatch UMLS:C1854336 semapv:UnspecifiedMatching MONDO:0011544 paragangliomas 3 skos:exactMatch mesh:C565335 semapv:UnspecifiedMatching MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:exactMatch DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 semapv:UnspecifiedMatching MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:exactMatch OMIM:605375 epilepsy, nocturnal frontal lobe, 3 semapv:UnspecifiedMatching MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:exactMatch UMLS:C1854335 semapv:UnspecifiedMatching MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:exactMatch mesh:C565334 semapv:UnspecifiedMatching MONDO:0011546 heterotaxy, visceral, 2, autosomal skos:exactMatch OMIM:605376 heterotaxy, visceral, 2, autosomal semapv:UnspecifiedMatching MONDO:0011546 heterotaxy, visceral, 2, autosomal skos:exactMatch UMLS:C1415817 semapv:UnspecifiedMatching MONDO:0011547 cataract 31 multiple types skos:exactMatch DOID:0110265 cataract 31 multiple types semapv:UnspecifiedMatching MONDO:0011547 cataract 31 multiple types skos:exactMatch OMIM:605387 cataract 31, multiple types semapv:UnspecifiedMatching MONDO:0011547 cataract 31 multiple types skos:exactMatch mesh:C535343 semapv:UnspecifiedMatching MONDO:0011548 cerebral palsy, ataxic, autosomal recessive skos:exactMatch OMIM:605388 cerebral palsy, ataxic, autosomal recessive semapv:UnspecifiedMatching MONDO:0011549 hypotrichosis 1 skos:exactMatch DOID:0110698 hypotrichosis 1 semapv:UnspecifiedMatching MONDO:0011549 hypotrichosis 1 skos:exactMatch OMIM:605389 hypotrichosis 1 semapv:UnspecifiedMatching MONDO:0011550 fibromatosis, gingival, with hypertrichosis and intellectual disability skos:exactMatch OMIM:605400 fibromatosis, gingival, with hypertrichosis and mental retardation semapv:UnspecifiedMatching MONDO:0011550 fibromatosis, gingival, with hypertrichosis and intellectual disability skos:exactMatch UMLS:C1854306 semapv:UnspecifiedMatching MONDO:0011550 fibromatosis, gingival, with hypertrichosis and intellectual disability skos:exactMatch mesh:C565331 semapv:UnspecifiedMatching MONDO:0011551 TH-deficient dopa-responsive dystonia skos:exactMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO:0011551 TH-deficient dopa-responsive dystonia skos:exactMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:UnspecifiedMatching MONDO:0011551 TH-deficient dopa-responsive dystonia skos:exactMatch SCTID:715827001 semapv:UnspecifiedMatching MONDO:0011551 TH-deficient dopa-responsive dystonia skos:exactMatch UMLS:C2673535 semapv:UnspecifiedMatching MONDO:0011552 schizophrenia 10 skos:exactMatch DOID:0070086 schizophrenia 10 semapv:UnspecifiedMatching MONDO:0011552 schizophrenia 10 skos:exactMatch OMIM:605419 schizophrenia 10 semapv:UnspecifiedMatching MONDO:0011552 schizophrenia 10 skos:exactMatch mesh:D012560 semapv:UnspecifiedMatching MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:exactMatch DOID:0110484 autosomal recessive nonsyndromic deafness 26 semapv:UnspecifiedMatching MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:exactMatch OMIM:605428 deafness, autosomal recessive 26 semapv:UnspecifiedMatching MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:exactMatch UMLS:C1854275 semapv:UnspecifiedMatching MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:exactMatch mesh:C565329 semapv:UnspecifiedMatching MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 skos:exactMatch OMIM:605429 deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:exactMatch OMIMPS:605432 semapv:UnspecifiedMatching MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:exactMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:UnspecifiedMatching MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:exactMatch SCTID:721882001 semapv:UnspecifiedMatching MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:exactMatch mesh:C565328 semapv:UnspecifiedMatching MONDO:0011556 basal cell carcinoma, susceptibility to, 1 skos:exactMatch OMIM:605462 basal cell carcinoma, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011557 radiation sensitivity/chromosome instability syndrome, autosomal dominant skos:exactMatch OMIM:605463 radiation sensitivity/chromosome instability syndrome, autosomal dominant semapv:UnspecifiedMatching MONDO:0011557 radiation sensitivity/chromosome instability syndrome, autosomal dominant skos:exactMatch UMLS:C1854244 semapv:UnspecifiedMatching MONDO:0011557 radiation sensitivity/chromosome instability syndrome, autosomal dominant skos:exactMatch mesh:C565326 semapv:UnspecifiedMatching MONDO:0011558 Usher syndrome type 2C skos:exactMatch DOID:0110839 Usher syndrome type 2C semapv:UnspecifiedMatching MONDO:0011558 Usher syndrome type 2C skos:exactMatch NCIT:C153174 Usher Syndrome Type 2C semapv:UnspecifiedMatching MONDO:0011558 Usher syndrome type 2C skos:exactMatch OMIM:605472 usher syndrome, iia 2c semapv:UnspecifiedMatching MONDO:0011558 Usher syndrome type 2C skos:exactMatch mesh:C536492 semapv:UnspecifiedMatching MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:exactMatch DOID:0070232 benign recurrent intrahepatic cholestasis 2 semapv:UnspecifiedMatching MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:exactMatch OMIM:605479 cholestasis, benign recurrent intrahepatic, 2 semapv:UnspecifiedMatching MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:exactMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:UnspecifiedMatching MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:exactMatch mesh:C535934 semapv:UnspecifiedMatching MONDO:0011560 systemic lupus erythematosus, susceptibility to, 3 skos:exactMatch OMIM:605480 systemic lupus erythematosus, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0011561 Alzheimer disease 6 skos:exactMatch DOID:0110038 Alzheimer's disease 6 semapv:UnspecifiedMatching MONDO:0011561 Alzheimer disease 6 skos:exactMatch OMIM:605526 alzheimer disease 6 semapv:UnspecifiedMatching MONDO:0011561 Alzheimer disease 6 skos:exactMatch mesh:C565325 semapv:UnspecifiedMatching MONDO:0011562 autosomal dominant Parkinson disease 4 skos:exactMatch DOID:0060895 Parkinson's disease 4 semapv:UnspecifiedMatching MONDO:0011562 autosomal dominant Parkinson disease 4 skos:exactMatch OMIM:605543 parkinson disease 4, autosomal dominant semapv:UnspecifiedMatching MONDO:0011562 autosomal dominant Parkinson disease 4 skos:exactMatch UMLS:C1854182 semapv:UnspecifiedMatching MONDO:0011562 autosomal dominant Parkinson disease 4 skos:exactMatch mesh:C565324 semapv:UnspecifiedMatching MONDO:0011563 fibromatosis, gingival, 2 skos:exactMatch OMIM:605544 fibromatosis, gingival, 2 semapv:UnspecifiedMatching MONDO:0011563 fibromatosis, gingival, 2 skos:exactMatch mesh:C565323 semapv:UnspecifiedMatching MONDO:0011564 cone-rod dystrophy 8 skos:exactMatch DOID:0111014 cone-rod dystrophy 8 semapv:UnspecifiedMatching MONDO:0011564 cone-rod dystrophy 8 skos:exactMatch OMIM:605549 cone-rod dystrophy 8 semapv:UnspecifiedMatching MONDO:0011564 cone-rod dystrophy 8 skos:exactMatch UMLS:C1854180 semapv:UnspecifiedMatching MONDO:0011564 cone-rod dystrophy 8 skos:exactMatch mesh:C565322 semapv:UnspecifiedMatching MONDO:0011565 metabolic syndrome X skos:exactMatch DOID:14221 abdominal obesity-metabolic syndrome 1 semapv:UnspecifiedMatching MONDO:0011565 metabolic syndrome X skos:exactMatch OMIM:605552 abdominal obesity-metabolic syndrome 1 semapv:UnspecifiedMatching MONDO:0011565 metabolic syndrome X skos:exactMatch SCTID:237602007 semapv:UnspecifiedMatching MONDO:0011565 metabolic syndrome X skos:exactMatch UMLS:C4552048 semapv:UnspecifiedMatching MONDO:0011565 metabolic syndrome X skos:exactMatch mesh:D024821 semapv:UnspecifiedMatching MONDO:0011566 abdominal obesity-metabolic syndrome quantitative trait locus 2 skos:exactMatch OMIM:605572 abdominal obesity-metabolic syndrome quantitative trait locus 2 semapv:UnspecifiedMatching MONDO:0011567 dilated cardiomyopathy 1K skos:exactMatch DOID:0110437 dilated cardiomyopathy 1K semapv:UnspecifiedMatching MONDO:0011567 dilated cardiomyopathy 1K skos:exactMatch OMIM:605582 cardiomyopathy, dilated, 1k semapv:UnspecifiedMatching MONDO:0011567 dilated cardiomyopathy 1K skos:exactMatch UMLS:C1854159 semapv:UnspecifiedMatching MONDO:0011567 dilated cardiomyopathy 1K skos:exactMatch mesh:C565320 semapv:UnspecifiedMatching MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:exactMatch DOID:0110555 autosomal dominant nonsyndromic deafness 25 semapv:UnspecifiedMatching MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:exactMatch OMIM:605583 deafness, autosomal dominant 25 semapv:UnspecifiedMatching MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:exactMatch UMLS:C1854158 semapv:UnspecifiedMatching MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:exactMatch mesh:C565319 semapv:UnspecifiedMatching MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch DOID:0110156 Charcot-Marie-Tooth disease type 2B1 semapv:UnspecifiedMatching MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch OMIM:605588 charcot-marie-tooth disease, axonal, iia 2b1 semapv:UnspecifiedMatching MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:UnspecifiedMatching MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch SCTID:725048002 semapv:UnspecifiedMatching MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch UMLS:C1854154 semapv:UnspecifiedMatching MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch mesh:C537990 semapv:UnspecifiedMatching MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch DOID:0110179 Charcot-Marie-Tooth disease type 2B2 semapv:UnspecifiedMatching MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch OMIM:605589 charcot-marie-tooth disease, axonal, iia 2b2 semapv:UnspecifiedMatching MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:UnspecifiedMatching MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch SCTID:719981005 semapv:UnspecifiedMatching MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch UMLS:C1854150 semapv:UnspecifiedMatching MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch mesh:C537991 semapv:UnspecifiedMatching MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:exactMatch OMIM:605594 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 semapv:UnspecifiedMatching MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:exactMatch UMLS:C1854146 semapv:UnspecifiedMatching MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:exactMatch mesh:C565316 semapv:UnspecifiedMatching MONDO:0011572 type 1 diabetes mellitus 18 skos:exactMatch DOID:0110755 type 1 diabetes mellitus 18 semapv:UnspecifiedMatching MONDO:0011572 type 1 diabetes mellitus 18 skos:exactMatch OMIM:605598 iia 1 diabetes mellitus 18 semapv:UnspecifiedMatching MONDO:0011572 type 1 diabetes mellitus 18 skos:exactMatch UMLS:C1854125 semapv:UnspecifiedMatching MONDO:0011572 type 1 diabetes mellitus 18 skos:exactMatch mesh:C565315 semapv:UnspecifiedMatching MONDO:0011573 psoriasis 7, susceptibility to skos:exactMatch DOID:0111279 psoriasis 7 semapv:UnspecifiedMatching MONDO:0011573 psoriasis 7, susceptibility to skos:exactMatch OMIM:605606 psoriasis 7, susceptibility to semapv:UnspecifiedMatching MONDO:0011574 tetralogy of fallot syndrome, autosomal recessive skos:exactMatch OMIM:605618 tetralogy of fallot syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO:0011574 tetralogy of fallot syndrome, autosomal recessive skos:exactMatch UMLS:C1854119 semapv:UnspecifiedMatching MONDO:0011574 tetralogy of fallot syndrome, autosomal recessive skos:exactMatch mesh:C565314 semapv:UnspecifiedMatching MONDO:0011575 cerebrooculonasal syndrome skos:exactMatch OMIM:605627 cerebrooculonasal syndrome semapv:UnspecifiedMatching MONDO:0011575 cerebrooculonasal syndrome skos:exactMatch Orphanet:66625 Cerebrooculonasal syndrome semapv:UnspecifiedMatching MONDO:0011575 cerebrooculonasal syndrome skos:exactMatch SCTID:720855003 semapv:UnspecifiedMatching MONDO:0011575 cerebrooculonasal syndrome skos:exactMatch UMLS:C1854108 semapv:UnspecifiedMatching MONDO:0011575 cerebrooculonasal syndrome skos:exactMatch mesh:C565313 semapv:UnspecifiedMatching MONDO:0011576 familial hyperaldosteronism type II skos:exactMatch NCIT:C127162 Familial Hyperaldosteronism Type 2 semapv:UnspecifiedMatching MONDO:0011576 familial hyperaldosteronism type II skos:exactMatch OMIM:605635 hyperaldosteronism, familial, iia 2 semapv:UnspecifiedMatching MONDO:0011576 familial hyperaldosteronism type II skos:exactMatch Orphanet:404 Familial hyperaldosteronism type II semapv:UnspecifiedMatching MONDO:0011576 familial hyperaldosteronism type II skos:exactMatch SCTID:703233008 semapv:UnspecifiedMatching MONDO:0011576 familial hyperaldosteronism type II skos:exactMatch UMLS:C1854107 semapv:UnspecifiedMatching MONDO:0011576 familial hyperaldosteronism type II skos:exactMatch mesh:C565312 semapv:UnspecifiedMatching MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:exactMatch DOID:0080719 congenital myopathy 6 semapv:UnspecifiedMatching MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:exactMatch OMIM:605637 congenital myopathy 6 with ophthalmoplegia semapv:UnspecifiedMatching MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:exactMatch UMLS:C1854106 semapv:UnspecifiedMatching MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:exactMatch mesh:C565311 semapv:UnspecifiedMatching MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:exactMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:UnspecifiedMatching MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:exactMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:UnspecifiedMatching MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:exactMatch SCTID:717734005 semapv:UnspecifiedMatching MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:exactMatch UMLS:C1854104 semapv:UnspecifiedMatching MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:exactMatch mesh:C565310 semapv:UnspecifiedMatching MONDO:0011579 late-onset retinal degeneration skos:exactMatch DOID:0060869 late-onset retinal degeneration semapv:UnspecifiedMatching MONDO:0011579 late-onset retinal degeneration skos:exactMatch OMIM:605670 late-onset retinal degeneration semapv:UnspecifiedMatching MONDO:0011579 late-onset retinal degeneration skos:exactMatch Orphanet:67042 Late-onset retinal degeneration semapv:UnspecifiedMatching MONDO:0011579 late-onset retinal degeneration skos:exactMatch SCTID:719431007 semapv:UnspecifiedMatching MONDO:0011579 late-onset retinal degeneration skos:exactMatch UMLS:C1854065 semapv:UnspecifiedMatching MONDO:0011579 late-onset retinal degeneration skos:exactMatch mesh:C565309 semapv:UnspecifiedMatching MONDO:0011580 cerebellar ataxia and hypergonadotropic hypogonadism skos:exactMatch OMIM:605672 cerebellar ataxia and hypergonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0011580 cerebellar ataxia and hypergonadotropic hypogonadism skos:exactMatch UMLS:C1854064 semapv:UnspecifiedMatching MONDO:0011580 cerebellar ataxia and hypergonadotropic hypogonadism skos:exactMatch mesh:C565308 semapv:UnspecifiedMatching MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch DOID:0090128 Carvajal syndrome semapv:UnspecifiedMatching MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch OMIM:605676 cardiomyopathy, dilated, with woolly hair and keratoderma semapv:UnspecifiedMatching MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch Orphanet:65282 Carvajal syndrome semapv:UnspecifiedMatching MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch SCTID:719835006 semapv:UnspecifiedMatching MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch UMLS:C1854063 semapv:UnspecifiedMatching MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch mesh:C535581 semapv:UnspecifiedMatching MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:exactMatch DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 semapv:UnspecifiedMatching MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:exactMatch OMIM:605711 multiple mitochondrial dysfunctions syndrome 1 semapv:UnspecifiedMatching MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:exactMatch Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 semapv:UnspecifiedMatching MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:exactMatch UMLS:C3276432 semapv:UnspecifiedMatching MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:exactMatch DOID:0070028 APP-related cerebral amyloid angiopathy semapv:UnspecifiedMatching MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:exactMatch NCIT:C157147 Cerebral Amyloid Angiopathy, APP-Related semapv:UnspecifiedMatching MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:exactMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:UnspecifiedMatching MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:exactMatch UMLS:C2751536 semapv:UnspecifiedMatching MONDO:0011584 Fanconi anemia complementation group D1 skos:exactMatch DOID:0111089 Fanconi anemia complementation group D1 semapv:UnspecifiedMatching MONDO:0011584 Fanconi anemia complementation group D1 skos:exactMatch NCIT:C125705 Fanconi Anemia, Complementation Group D1 semapv:UnspecifiedMatching MONDO:0011584 Fanconi anemia complementation group D1 skos:exactMatch OMIM:605724 fanconi anemia, complementation group d1 semapv:UnspecifiedMatching MONDO:0011584 Fanconi anemia complementation group D1 skos:exactMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:UnspecifiedMatching MONDO:0011584 Fanconi anemia complementation group D1 skos:exactMatch SCTID:766707003 semapv:UnspecifiedMatching MONDO:0011584 Fanconi anemia complementation group D1 skos:exactMatch UMLS:C1838457 semapv:UnspecifiedMatching MONDO:0011584 Fanconi anemia complementation group D1 skos:exactMatch mesh:C563980 semapv:UnspecifiedMatching MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:exactMatch DOID:0111065 distal spinal muscular atrophy 2 semapv:UnspecifiedMatching MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:exactMatch OMIM:605726 neuronopathy, distal hereditary motor, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:exactMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:UnspecifiedMatching MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:exactMatch SCTID:763533003 semapv:UnspecifiedMatching MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:exactMatch mesh:C535715 semapv:UnspecifiedMatching MONDO:0011586 otosclerosis 2 skos:exactMatch OMIM:605727 otosclerosis 2 semapv:UnspecifiedMatching MONDO:0011586 otosclerosis 2 skos:exactMatch UMLS:C1854022 semapv:UnspecifiedMatching MONDO:0011586 otosclerosis 2 skos:exactMatch mesh:C565302 semapv:UnspecifiedMatching MONDO:0011587 cataract 25 skos:exactMatch DOID:0110254 cataract 25 semapv:UnspecifiedMatching MONDO:0011587 cataract 25 skos:exactMatch OMIM:605728 cataract 25 semapv:UnspecifiedMatching MONDO:0011587 cataract 25 skos:exactMatch mesh:C565301 semapv:UnspecifiedMatching MONDO:0011588 platelet-type bleeding disorder 12 skos:exactMatch DOID:0111058 platelet-type bleeding disorder 12 semapv:UnspecifiedMatching MONDO:0011588 platelet-type bleeding disorder 12 skos:exactMatch OMIM:605735 bleeding disorder, platelet-type, 12 semapv:UnspecifiedMatching MONDO:0011588 platelet-type bleeding disorder 12 skos:exactMatch UMLS:C2751535 semapv:UnspecifiedMatching MONDO:0011588 platelet-type bleeding disorder 12 skos:exactMatch mesh:C567786 semapv:UnspecifiedMatching MONDO:0011589 microphthalmia with coloboma 2 skos:exactMatch OMIM:605738 microphthalmia, isolated, with coloboma 2 semapv:UnspecifiedMatching MONDO:0011589 microphthalmia with coloboma 2 skos:exactMatch UMLS:C1854018 semapv:UnspecifiedMatching MONDO:0011589 microphthalmia with coloboma 2 skos:exactMatch mesh:C565300 semapv:UnspecifiedMatching MONDO:0011590 anisomastia skos:exactMatch OMIM:605746 anisomastia semapv:UnspecifiedMatching MONDO:0011590 anisomastia skos:exactMatch mesh:C565299 semapv:UnspecifiedMatching MONDO:0011591 cataract 26 multiple types skos:exactMatch DOID:0110246 cataract 26 multiple types semapv:UnspecifiedMatching MONDO:0011591 cataract 26 multiple types skos:exactMatch OMIM:605749 cataract 26, multiple types semapv:UnspecifiedMatching MONDO:0011591 cataract 26 multiple types skos:exactMatch UMLS:C1854003 semapv:UnspecifiedMatching MONDO:0011591 cataract 26 multiple types skos:exactMatch mesh:C565298 semapv:UnspecifiedMatching MONDO:0011592 exudative vitreoretinopathy 3 skos:exactMatch DOID:0111409 exudative vitreoretinopathy 3 semapv:UnspecifiedMatching MONDO:0011592 exudative vitreoretinopathy 3 skos:exactMatch OMIM:605750 exudative vitreoretinopathy 3 semapv:UnspecifiedMatching MONDO:0011592 exudative vitreoretinopathy 3 skos:exactMatch UMLS:C1854002 semapv:UnspecifiedMatching MONDO:0011592 exudative vitreoretinopathy 3 skos:exactMatch mesh:C565297 semapv:UnspecifiedMatching MONDO:0011593 seizures, benign familial infantile, 2 skos:exactMatch DOID:0081115 benign familial infantile seizures 2 semapv:UnspecifiedMatching MONDO:0011593 seizures, benign familial infantile, 2 skos:exactMatch OMIM:605751 seizures, benign familial infantile, 2 semapv:UnspecifiedMatching MONDO:0011593 seizures, benign familial infantile, 2 skos:exactMatch UMLS:C1853995 semapv:UnspecifiedMatching MONDO:0011593 seizures, benign familial infantile, 2 skos:exactMatch mesh:C565296 semapv:UnspecifiedMatching MONDO:0011594 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis skos:exactMatch OMIM:605756 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis semapv:UnspecifiedMatching MONDO:0011594 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis skos:exactMatch UMLS:C3148970 semapv:UnspecifiedMatching MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:exactMatch DOID:0080085 nonsyndromic congenital nail disorder 7 semapv:UnspecifiedMatching MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:exactMatch OMIM:605779 nail disorder, nonsyndromic congenital, 7 semapv:UnspecifiedMatching MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:exactMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:UnspecifiedMatching MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:exactMatch SCTID:403281007 semapv:UnspecifiedMatching MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:exactMatch UMLS:C5574953 semapv:UnspecifiedMatching MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:exactMatch mesh:C538333 semapv:UnspecifiedMatching MONDO:0011596 dermatitis, atopic, 2 skos:exactMatch DOID:0110098 atopic dermatitis 2 semapv:UnspecifiedMatching MONDO:0011596 dermatitis, atopic, 2 skos:exactMatch OMIM:605803 dermatitis, atopic, 2 semapv:UnspecifiedMatching MONDO:0011596 dermatitis, atopic, 2 skos:exactMatch UMLS:C1853965 semapv:UnspecifiedMatching MONDO:0011596 dermatitis, atopic, 2 skos:exactMatch mesh:C565293 semapv:UnspecifiedMatching MONDO:0011597 dermatitis, atopic, 3 skos:exactMatch DOID:0110099 atopic dermatitis 3 semapv:UnspecifiedMatching MONDO:0011597 dermatitis, atopic, 3 skos:exactMatch OMIM:605804 dermatitis, atopic, 3 semapv:UnspecifiedMatching MONDO:0011597 dermatitis, atopic, 3 skos:exactMatch UMLS:C1853964 semapv:UnspecifiedMatching MONDO:0011597 dermatitis, atopic, 3 skos:exactMatch mesh:C565292 semapv:UnspecifiedMatching MONDO:0011598 dermatitis, atopic, 4 skos:exactMatch DOID:0110100 atopic dermatitis 4 semapv:UnspecifiedMatching MONDO:0011598 dermatitis, atopic, 4 skos:exactMatch OMIM:605805 dermatitis, atopic, 4 semapv:UnspecifiedMatching MONDO:0011598 dermatitis, atopic, 4 skos:exactMatch UMLS:C1853963 semapv:UnspecifiedMatching MONDO:0011598 dermatitis, atopic, 4 skos:exactMatch mesh:C565291 semapv:UnspecifiedMatching MONDO:0011599 birdshot chorioretinopathy skos:exactMatch DOID:0111079 birdshot chorioretinopathy semapv:UnspecifiedMatching MONDO:0011599 birdshot chorioretinopathy skos:exactMatch OMIM:605808 birdshot chorioretinopathy semapv:UnspecifiedMatching MONDO:0011599 birdshot chorioretinopathy skos:exactMatch Orphanet:179 Birdshot chorioretinopathy semapv:UnspecifiedMatching MONDO:0011599 birdshot chorioretinopathy skos:exactMatch SCTID:231981005 semapv:UnspecifiedMatching MONDO:0011599 birdshot chorioretinopathy skos:exactMatch UMLS:C1853959 semapv:UnspecifiedMatching MONDO:0011599 birdshot chorioretinopathy skos:exactMatch mesh:C537630 semapv:UnspecifiedMatching MONDO:0011600 congenital myasthenic syndrome 4A skos:exactMatch DOID:0110678 congenital myasthenic syndrome 4A semapv:UnspecifiedMatching MONDO:0011600 congenital myasthenic syndrome 4A skos:exactMatch OMIM:605809 myasthenic syndrome, congenital, 4a, slow-channel semapv:UnspecifiedMatching MONDO:0011600 congenital myasthenic syndrome 4A skos:exactMatch UMLS:C4225413 semapv:UnspecifiedMatching MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch DOID:0070341 neonatal-onset type II citrullinemia semapv:UnspecifiedMatching MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch OMIM:605814 citrullinemia, iia ii, neonatal-onset semapv:UnspecifiedMatching MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:UnspecifiedMatching MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch SCTID:717155003 semapv:UnspecifiedMatching MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch UMLS:C1853942 semapv:UnspecifiedMatching MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch mesh:C536398 semapv:UnspecifiedMatching MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:exactMatch DOID:0110485 autosomal recessive nonsyndromic deafness 27 semapv:UnspecifiedMatching MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:exactMatch OMIM:605818 deafness, autosomal recessive 27 semapv:UnspecifiedMatching MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:exactMatch UMLS:C1853941 semapv:UnspecifiedMatching MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:exactMatch mesh:C565287 semapv:UnspecifiedMatching MONDO:0011603 GNE myopathy skos:exactMatch DOID:0080718 GNE myopathy semapv:UnspecifiedMatching MONDO:0011603 GNE myopathy skos:exactMatch OMIM:605820 nonaka myopathy semapv:UnspecifiedMatching MONDO:0011603 GNE myopathy skos:exactMatch Orphanet:602 GNE myopathy semapv:UnspecifiedMatching MONDO:0011603 GNE myopathy skos:exactMatch SCTID:702382000 semapv:UnspecifiedMatching MONDO:0011604 spondylo-ocular syndrome skos:exactMatch OMIM:605822 spondyloocular syndrome semapv:UnspecifiedMatching MONDO:0011604 spondylo-ocular syndrome skos:exactMatch Orphanet:85194 Spondylo-ocular syndrome semapv:UnspecifiedMatching MONDO:0011604 spondylo-ocular syndrome skos:exactMatch SCTID:715653007 semapv:UnspecifiedMatching MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:exactMatch OMIM:605827 basaloid follicular hamartoma syndrome, generalized, autosomal dominant semapv:UnspecifiedMatching MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:exactMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:UnspecifiedMatching MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:exactMatch SCTID:766928004 semapv:UnspecifiedMatching MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:exactMatch UMLS:C1853919 semapv:UnspecifiedMatching MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:exactMatch mesh:C565284 semapv:UnspecifiedMatching MONDO:0011606 baby rattle pelvis dysplasia skos:exactMatch OMIM:605838 baby rattle pelvis dysplasia semapv:UnspecifiedMatching MONDO:0011606 baby rattle pelvis dysplasia skos:exactMatch UMLS:C1853911 semapv:UnspecifiedMatching MONDO:0011606 baby rattle pelvis dysplasia skos:exactMatch mesh:C537794 semapv:UnspecifiedMatching MONDO:0011606 baby rattle pelvis dysplasia skos:exactMatch mesh:C565282 semapv:UnspecifiedMatching MONDO:0011607 narcolepsy 2, susceptibility to skos:exactMatch OMIM:605841 narcolepsy 2, susceptibility to semapv:UnspecifiedMatching MONDO:0011607 narcolepsy 2, susceptibility to skos:exactMatch UMLS:C1853901 semapv:UnspecifiedMatching MONDO:0011608 dermatitis, atopic, 5 skos:exactMatch DOID:0110101 atopic dermatitis 5 semapv:UnspecifiedMatching MONDO:0011608 dermatitis, atopic, 5 skos:exactMatch OMIM:605844 dermatitis, atopic, 5 semapv:UnspecifiedMatching MONDO:0011608 dermatitis, atopic, 5 skos:exactMatch UMLS:C1853900 semapv:UnspecifiedMatching MONDO:0011608 dermatitis, atopic, 5 skos:exactMatch mesh:C565280 semapv:UnspecifiedMatching MONDO:0011609 dermatitis, atopic, 6 skos:exactMatch DOID:0110102 atopic dermatitis 6 semapv:UnspecifiedMatching MONDO:0011609 dermatitis, atopic, 6 skos:exactMatch OMIM:605845 dermatitis, atopic, 6 semapv:UnspecifiedMatching MONDO:0011609 dermatitis, atopic, 6 skos:exactMatch UMLS:C1853899 semapv:UnspecifiedMatching MONDO:0011609 dermatitis, atopic, 6 skos:exactMatch mesh:C565279 semapv:UnspecifiedMatching MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:exactMatch OMIM:605850 dimethylglycine dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:exactMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:exactMatch SCTID:719449007 semapv:UnspecifiedMatching MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:exactMatch UMLS:C1853892 semapv:UnspecifiedMatching MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:exactMatch mesh:C565278 semapv:UnspecifiedMatching MONDO:0011611 short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting skos:exactMatch OMIM:605856 short stature, impaired intellectual development, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting semapv:UnspecifiedMatching MONDO:0011611 short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting skos:exactMatch UMLS:C1970039 semapv:UnspecifiedMatching MONDO:0011611 short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting skos:exactMatch mesh:C566989 semapv:UnspecifiedMatching MONDO:0011612 glycine encephalopathy skos:exactMatch DOID:9268 glycine encephalopathy semapv:UnspecifiedMatching MONDO:0011612 glycine encephalopathy skos:exactMatch NCIT:C84937 Glycine Encephalopathy semapv:UnspecifiedMatching MONDO:0011612 glycine encephalopathy skos:exactMatch OMIMPS:605899 semapv:UnspecifiedMatching MONDO:0011612 glycine encephalopathy skos:exactMatch Orphanet:407 Glycine encephalopathy semapv:UnspecifiedMatching MONDO:0011612 glycine encephalopathy skos:exactMatch SCTID:237939006 semapv:UnspecifiedMatching MONDO:0011612 glycine encephalopathy skos:exactMatch UMLS:C0751748 semapv:UnspecifiedMatching MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:exactMatch DOID:0060369 Parkinson's disease 6 semapv:UnspecifiedMatching MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:exactMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:UnspecifiedMatching MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:exactMatch mesh:C565276 semapv:UnspecifiedMatching MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch DOID:0081168 HMG-CoA synthase 2 deficiency semapv:UnspecifiedMatching MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:UnspecifiedMatching MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:UnspecifiedMatching MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch SCTID:725286002 semapv:UnspecifiedMatching MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch UMLS:C2751532 semapv:UnspecifiedMatching MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch mesh:C567784 semapv:UnspecifiedMatching MONDO:0011615 East Texas bleeding disorder skos:exactMatch OMIM:605913 bleeding disorder, east texas iia semapv:UnspecifiedMatching MONDO:0011615 East Texas bleeding disorder skos:exactMatch Orphanet:391320 East Texas bleeding disorder semapv:UnspecifiedMatching MONDO:0011615 East Texas bleeding disorder skos:exactMatch UMLS:C1853831 semapv:UnspecifiedMatching MONDO:0011615 East Texas bleeding disorder skos:exactMatch mesh:C565275 semapv:UnspecifiedMatching MONDO:0011616 holoprosencephaly 6 skos:exactMatch DOID:0110874 holoprosencephaly 6 semapv:UnspecifiedMatching MONDO:0011616 holoprosencephaly 6 skos:exactMatch OMIM:605934 holoprosencephaly 6 semapv:UnspecifiedMatching MONDO:0011616 holoprosencephaly 6 skos:exactMatch UMLS:C1853830 semapv:UnspecifiedMatching MONDO:0011616 holoprosencephaly 6 skos:exactMatch mesh:C565274 semapv:UnspecifiedMatching MONDO:0011617 arthropathy, erosive skos:exactMatch OMIM:605935 arthropathy, erosive semapv:UnspecifiedMatching MONDO:0011617 arthropathy, erosive skos:exactMatch UMLS:C1853829 semapv:UnspecifiedMatching MONDO:0011617 arthropathy, erosive skos:exactMatch mesh:C565273 semapv:UnspecifiedMatching MONDO:0011618 liver fibrocystic disease and polydactyly skos:exactMatch OMIM:605944 liver fibrocystic disease and polydactyly semapv:UnspecifiedMatching MONDO:0011618 liver fibrocystic disease and polydactyly skos:exactMatch UMLS:C1853827 semapv:UnspecifiedMatching MONDO:0011618 liver fibrocystic disease and polydactyly skos:exactMatch mesh:C565272 semapv:UnspecifiedMatching MONDO:0011619 crumpled helices and small mouth skos:exactMatch OMIM:605945 crumpled helices and small mouth semapv:UnspecifiedMatching MONDO:0011619 crumpled helices and small mouth skos:exactMatch UMLS:C1853826 semapv:UnspecifiedMatching MONDO:0011619 crumpled helices and small mouth skos:exactMatch mesh:C536217 semapv:UnspecifiedMatching MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:exactMatch OMIM:605946 metaphyseal dysplasia, braun-tinschert iia semapv:UnspecifiedMatching MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:exactMatch Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type semapv:UnspecifiedMatching MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:exactMatch SCTID:717221005 semapv:UnspecifiedMatching MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:exactMatch UMLS:C1853825 semapv:UnspecifiedMatching MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:exactMatch mesh:C565271 semapv:UnspecifiedMatching MONDO:0011621 acropectoral syndrome skos:exactMatch OMIM:605967 acropectoral syndrome semapv:UnspecifiedMatching MONDO:0011621 acropectoral syndrome skos:exactMatch Orphanet:85203 Acropectoral syndrome semapv:UnspecifiedMatching MONDO:0011621 acropectoral syndrome skos:exactMatch SCTID:720412009 semapv:UnspecifiedMatching MONDO:0011621 acropectoral syndrome skos:exactMatch UMLS:C1853812 semapv:UnspecifiedMatching MONDO:0011621 acropectoral syndrome skos:exactMatch mesh:C535664 semapv:UnspecifiedMatching MONDO:0011622 nephrolithiasis, uric acid, susceptibility to skos:exactMatch OMIM:605990 nephrolithiasis, uric acid, susceptibility to semapv:UnspecifiedMatching MONDO:0011624 transaldolase deficiency skos:exactMatch OMIM:606003 transaldolase deficiency semapv:UnspecifiedMatching MONDO:0011624 transaldolase deficiency skos:exactMatch Orphanet:101028 Transaldolase deficiency semapv:UnspecifiedMatching MONDO:0011624 transaldolase deficiency skos:exactMatch SCTID:124252008 semapv:UnspecifiedMatching MONDO:0011624 transaldolase deficiency skos:exactMatch UMLS:C1291329 semapv:UnspecifiedMatching MONDO:0011624 transaldolase deficiency skos:exactMatch mesh:C563207 semapv:UnspecifiedMatching MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:exactMatch DOID:0110549 autosomal dominant nonsyndromic deafness 18 semapv:UnspecifiedMatching MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:exactMatch OMIM:606012 deafness, autosomal dominant 18 semapv:UnspecifiedMatching MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:exactMatch UMLS:C1853760 semapv:UnspecifiedMatching MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:exactMatch mesh:C565267 semapv:UnspecifiedMatching MONDO:0011626 acromegaloid features, overgrowth, cleft palate, and hernia skos:exactMatch OMIM:606049 acromegaloid features, overgrowth, cleft palate, and hernia semapv:UnspecifiedMatching MONDO:0011626 acromegaloid features, overgrowth, cleft palate, and hernia skos:exactMatch UMLS:C1853757 semapv:UnspecifiedMatching MONDO:0011626 acromegaloid features, overgrowth, cleft palate, and hernia skos:exactMatch mesh:C535656 semapv:UnspecifiedMatching MONDO:0011627 autism, susceptibility to, 5 skos:exactMatch OMIM:606053 intellectual developmental disorder with autism and speech delay semapv:UnspecifiedMatching MONDO:0011627 autism, susceptibility to, 5 skos:exactMatch UMLS:C1853755 semapv:UnspecifiedMatching MONDO:0011628 propionic acidemia skos:exactMatch DOID:14701 propionic acidemia semapv:UnspecifiedMatching MONDO:0011628 propionic acidemia skos:exactMatch ICD10CM:E71.121 Propionic acidemia semapv:UnspecifiedMatching MONDO:0011628 propionic acidemia skos:exactMatch NCIT:C85030 Propionic Acidemia semapv:UnspecifiedMatching MONDO:0011628 propionic acidemia skos:exactMatch OMIM:606054 propionic acidemia semapv:UnspecifiedMatching MONDO:0011628 propionic acidemia skos:exactMatch Orphanet:35 Propionic acidemia semapv:UnspecifiedMatching MONDO:0011628 propionic acidemia skos:exactMatch SCTID:69080001 semapv:UnspecifiedMatching MONDO:0011628 propionic acidemia skos:exactMatch UMLS:C0268579 semapv:UnspecifiedMatching MONDO:0011628 propionic acidemia skos:exactMatch mesh:D056693 semapv:UnspecifiedMatching MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch DOID:0070254 congenital disorder of glycosylation type IIb semapv:UnspecifiedMatching MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch OMIM:606056 congenital disorder of glycosylation, iia iib semapv:UnspecifiedMatching MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch Orphanet:79330 MOGS-CDG semapv:UnspecifiedMatching MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch SCTID:725028009 semapv:UnspecifiedMatching MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch UMLS:C1853736 semapv:UnspecifiedMatching MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch mesh:C565264 semapv:UnspecifiedMatching MONDO:0011630 retinitis pigmentosa 28 skos:exactMatch DOID:0110365 retinitis pigmentosa 28 semapv:UnspecifiedMatching MONDO:0011630 retinitis pigmentosa 28 skos:exactMatch OMIM:606068 retinitis pigmentosa 28 semapv:UnspecifiedMatching MONDO:0011630 retinitis pigmentosa 28 skos:exactMatch UMLS:C1419614 semapv:UnspecifiedMatching MONDO:0011631 hemochromatosis type 4 skos:exactMatch DOID:0111028 hemochromatosis type 4 semapv:UnspecifiedMatching MONDO:0011631 hemochromatosis type 4 skos:exactMatch OMIM:606069 hemochromatosis, iia 4 semapv:UnspecifiedMatching MONDO:0011631 hemochromatosis type 4 skos:exactMatch Orphanet:648562 Ferroportin disease semapv:UnspecifiedMatching MONDO:0011631 hemochromatosis type 4 skos:exactMatch SCTID:719975002 semapv:UnspecifiedMatching MONDO:0011631 hemochromatosis type 4 skos:exactMatch UMLS:C1853733 semapv:UnspecifiedMatching MONDO:0011631 hemochromatosis type 4 skos:exactMatch mesh:C537249 semapv:UnspecifiedMatching MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:exactMatch DOID:0060212 amyotrophic lateral sclerosis type 21 semapv:UnspecifiedMatching MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:exactMatch NCIT:C168755 Amyotrophic Lateral Sclerosis 21 semapv:UnspecifiedMatching MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:exactMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:UnspecifiedMatching MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:exactMatch DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C semapv:UnspecifiedMatching MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:exactMatch OMIM:606071 hereditary motor and sensory neuropathy, iia 2c semapv:UnspecifiedMatching MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:exactMatch Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C semapv:UnspecifiedMatching MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:exactMatch SCTID:717010007 semapv:UnspecifiedMatching MONDO:0011634 rippling muscle disease skos:exactMatch SCTID:709281006 semapv:UnspecifiedMatching MONDO:0011635 goiter, multinodular 3 skos:exactMatch OMIM:606082 goiter, multinodular 3 semapv:UnspecifiedMatching MONDO:0011635 goiter, multinodular 3 skos:exactMatch UMLS:C1853686 semapv:UnspecifiedMatching MONDO:0011635 goiter, multinodular 3 skos:exactMatch mesh:C565260 semapv:UnspecifiedMatching MONDO:0011636 Diamond-Blackfan anemia 2 skos:exactMatch DOID:0111885 Diamond-Blackfan anemia 2 semapv:UnspecifiedMatching MONDO:0011636 Diamond-Blackfan anemia 2 skos:exactMatch OMIM:606129 diamond-blackfan anemia 2 semapv:UnspecifiedMatching MONDO:0011636 Diamond-Blackfan anemia 2 skos:exactMatch UMLS:C1853666 semapv:UnspecifiedMatching MONDO:0011636 Diamond-Blackfan anemia 2 skos:exactMatch mesh:C536130 semapv:UnspecifiedMatching MONDO:0011637 Sener syndrome skos:exactMatch OMIM:606156 sener syndrome semapv:UnspecifiedMatching MONDO:0011637 Sener syndrome skos:exactMatch UMLS:C1853616 semapv:UnspecifiedMatching MONDO:0011637 Sener syndrome skos:exactMatch mesh:C537579 semapv:UnspecifiedMatching MONDO:0011638 neuroferritinopathy skos:exactMatch DOID:0110737 neurodegeneration with brain iron accumulation 3 semapv:UnspecifiedMatching MONDO:0011638 neuroferritinopathy skos:exactMatch OMIM:606159 neurodegeneration with brain iron accumulation 3 semapv:UnspecifiedMatching MONDO:0011638 neuroferritinopathy skos:exactMatch Orphanet:157846 Neuroferritinopathy semapv:UnspecifiedMatching MONDO:0011638 neuroferritinopathy skos:exactMatch SCTID:699299001 semapv:UnspecifiedMatching MONDO:0011638 neuroferritinopathy skos:exactMatch UMLS:C1853578 semapv:UnspecifiedMatching MONDO:0011638 neuroferritinopathy skos:exactMatch mesh:C548080 semapv:UnspecifiedMatching MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis semapv:UnspecifiedMatching MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch OMIM:606164 diamond-blackfan anemia 15 with mandibulofacial dysostosis semapv:UnspecifiedMatching MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch UMLS:C4225411 semapv:UnspecifiedMatching MONDO:0011640 genitopatellar syndrome skos:exactMatch OMIM:606170 genitopatellar syndrome semapv:UnspecifiedMatching MONDO:0011640 genitopatellar syndrome skos:exactMatch Orphanet:85201 Genitopatellar syndrome semapv:UnspecifiedMatching MONDO:0011640 genitopatellar syndrome skos:exactMatch SCTID:702367005 semapv:UnspecifiedMatching MONDO:0011640 genitopatellar syndrome skos:exactMatch UMLS:C1853566 semapv:UnspecifiedMatching MONDO:0011640 genitopatellar syndrome skos:exactMatch mesh:C565255 semapv:UnspecifiedMatching MONDO:0011641 baculum, congenital absence of skos:exactMatch OMIM:606174 baculum, congenital absence of semapv:UnspecifiedMatching MONDO:0011642 carnitine acetyltransferase deficiency skos:exactMatch OMIM:606175 carnitine acetyltransferase deficiency semapv:UnspecifiedMatching MONDO:0011642 carnitine acetyltransferase deficiency skos:exactMatch SCTID:124257002 semapv:UnspecifiedMatching MONDO:0011642 carnitine acetyltransferase deficiency skos:exactMatch UMLS:C1443228 semapv:UnspecifiedMatching MONDO:0011642 carnitine acetyltransferase deficiency skos:exactMatch mesh:C563249 semapv:UnspecifiedMatching MONDO:0011644 pars planitis skos:exactMatch DOID:12731 pars planitis semapv:UnspecifiedMatching MONDO:0011644 pars planitis skos:exactMatch NCIT:C34903 Pars Planitis semapv:UnspecifiedMatching MONDO:0011644 pars planitis skos:exactMatch OMIM:606177 pars planitis semapv:UnspecifiedMatching MONDO:0011644 pars planitis skos:exactMatch SCTID:314428001 semapv:UnspecifiedMatching MONDO:0011644 pars planitis skos:exactMatch UMLS:C0030593 semapv:UnspecifiedMatching MONDO:0011644 pars planitis skos:exactMatch mesh:D015868 semapv:UnspecifiedMatching MONDO:0011646 laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy skos:exactMatch OMIM:606183 laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy semapv:UnspecifiedMatching MONDO:0011646 laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy skos:exactMatch UMLS:C1853556 semapv:UnspecifiedMatching MONDO:0011646 laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy skos:exactMatch mesh:C565252 semapv:UnspecifiedMatching MONDO:0011647 Alzheimer disease 7 skos:exactMatch DOID:0110039 Alzheimer's disease 7 semapv:UnspecifiedMatching MONDO:0011647 Alzheimer disease 7 skos:exactMatch OMIM:606187 alzheimer disease 7 semapv:UnspecifiedMatching MONDO:0011647 Alzheimer disease 7 skos:exactMatch UMLS:C1853555 semapv:UnspecifiedMatching MONDO:0011647 Alzheimer disease 7 skos:exactMatch mesh:C565251 semapv:UnspecifiedMatching MONDO:0011648 radiation-induced meningioma skos:exactMatch OMIM:606190 meningioma, radiation-induced semapv:UnspecifiedMatching MONDO:0011648 radiation-induced meningioma skos:exactMatch UMLS:C1853554 semapv:UnspecifiedMatching MONDO:0011648 radiation-induced meningioma skos:exactMatch mesh:C536266 semapv:UnspecifiedMatching MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 skos:exactMatch OMIM:606217 atrioventricular septal defect, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 skos:exactMatch mesh:C565249 semapv:UnspecifiedMatching MONDO:0011651 intellectual disability, short stature, facial anomalies, and joint dislocations skos:exactMatch OMIM:606220 intellectual developmental disorder with short stature, facial anomalies, and speech defects semapv:UnspecifiedMatching MONDO:0011651 intellectual disability, short stature, facial anomalies, and joint dislocations skos:exactMatch UMLS:C1853507 semapv:UnspecifiedMatching MONDO:0011651 intellectual disability, short stature, facial anomalies, and joint dislocations skos:exactMatch mesh:C565248 semapv:UnspecifiedMatching MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch DOID:0080354 Phelan-McDermid syndrome semapv:UnspecifiedMatching MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch NCIT:C157124 Phelan-McDermid Syndrome semapv:UnspecifiedMatching MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch OMIM:606232 phelan-mcdermid syndrome semapv:UnspecifiedMatching MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch Orphanet:48652 Monosomy 22q13.3 semapv:UnspecifiedMatching MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch SCTID:699310000 semapv:UnspecifiedMatching MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch UMLS:C1853490 semapv:UnspecifiedMatching MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch mesh:C536801 semapv:UnspecifiedMatching MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:exactMatch OMIM:606240 thyroid cancer, nonmedullary, 3 semapv:UnspecifiedMatching MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:exactMatch UMLS:C4225410 semapv:UnspecifiedMatching MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:exactMatch OMIM:606242 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism semapv:UnspecifiedMatching MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:exactMatch UMLS:C1853480 semapv:UnspecifiedMatching MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:exactMatch mesh:C565246 semapv:UnspecifiedMatching MONDO:0011655 alveolar soft part sarcoma skos:exactMatch DOID:4239 alveolar soft part sarcoma semapv:UnspecifiedMatching MONDO:0011655 alveolar soft part sarcoma skos:exactMatch NCIT:C3750 Alveolar Soft Part Sarcoma semapv:UnspecifiedMatching MONDO:0011655 alveolar soft part sarcoma skos:exactMatch NCIT:C7943 Adult Alveolar Soft Part Sarcoma semapv:UnspecifiedMatching MONDO:0011655 alveolar soft part sarcoma skos:exactMatch OMIM:606243 alveolar soft part sarcoma semapv:UnspecifiedMatching MONDO:0011655 alveolar soft part sarcoma skos:exactMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:UnspecifiedMatching MONDO:0011655 alveolar soft part sarcoma skos:exactMatch SCTID:404056007 semapv:UnspecifiedMatching MONDO:0011655 alveolar soft part sarcoma skos:exactMatch UMLS:C0206657 semapv:UnspecifiedMatching MONDO:0011655 alveolar soft part sarcoma skos:exactMatch mesh:D018234 semapv:UnspecifiedMatching MONDO:0011656 paget disease of bone 4 skos:exactMatch DOID:0081367 Paget's disease of bone 4 semapv:UnspecifiedMatching MONDO:0011656 paget disease of bone 4 skos:exactMatch OMIM:606263 paget disease of bone 4 semapv:UnspecifiedMatching MONDO:0011656 paget disease of bone 4 skos:exactMatch UMLS:C1853473 semapv:UnspecifiedMatching MONDO:0011656 paget disease of bone 4 skos:exactMatch mesh:C565240 semapv:UnspecifiedMatching MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:exactMatch DOID:0110554 autosomal dominant nonsyndromic deafness 24 semapv:UnspecifiedMatching MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:exactMatch OMIM:606282 deafness, autosomal dominant 24 semapv:UnspecifiedMatching MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:exactMatch UMLS:C1853451 semapv:UnspecifiedMatching MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:exactMatch mesh:C565239 semapv:UnspecifiedMatching MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:exactMatch DOID:0060370 Parkinson's disease 7 semapv:UnspecifiedMatching MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:exactMatch OMIM:606324 parkinson disease 7, autosomal recessive early-onset semapv:UnspecifiedMatching MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:exactMatch UMLS:C1853445 semapv:UnspecifiedMatching MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:exactMatch mesh:C565238 semapv:UnspecifiedMatching MONDO:0011659 heterotaxy, visceral, 3, autosomal skos:exactMatch OMIM:606325 heterotaxy, visceral, 3, autosomal semapv:UnspecifiedMatching MONDO:0011659 heterotaxy, visceral, 3, autosomal skos:exactMatch UMLS:C1853444 semapv:UnspecifiedMatching MONDO:0011659 heterotaxy, visceral, 3, autosomal skos:exactMatch mesh:C565237 semapv:UnspecifiedMatching MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:exactMatch DOID:0110552 autosomal dominant nonsyndromic deafness 22 semapv:UnspecifiedMatching MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:exactMatch OMIM:606346 deafness, autosomal dominant 22 semapv:UnspecifiedMatching MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:exactMatch mesh:C538197 semapv:UnspecifiedMatching MONDO:0011661 inflammatory bowel disease 5 skos:exactMatch DOID:0110889 inflammatory bowel disease 5 semapv:UnspecifiedMatching MONDO:0011661 inflammatory bowel disease 5 skos:exactMatch OMIM:606348 inflammatory bowel disease 5 semapv:UnspecifiedMatching MONDO:0011661 inflammatory bowel disease 5 skos:exactMatch UMLS:C1853438 semapv:UnspecifiedMatching MONDO:0011661 inflammatory bowel disease 5 skos:exactMatch mesh:C565234 semapv:UnspecifiedMatching MONDO:0011662 pathological gambling skos:exactMatch DOID:12399 pathological gambling semapv:UnspecifiedMatching MONDO:0011662 pathological gambling skos:exactMatch ICD10CM:F63.0 Pathological gambling semapv:UnspecifiedMatching MONDO:0011662 pathological gambling skos:exactMatch NCIT:C94335 Pathological Gambling semapv:UnspecifiedMatching MONDO:0011662 pathological gambling skos:exactMatch OMIM:606349 gambling, pathologic semapv:UnspecifiedMatching MONDO:0011662 pathological gambling skos:exactMatch SCTID:18085000 semapv:UnspecifiedMatching MONDO:0011662 pathological gambling skos:exactMatch mesh:D005715 semapv:UnspecifiedMatching MONDO:0011663 juvenile primary lateral sclerosis skos:exactMatch OMIM:606353 primary lateral sclerosis, juvenile semapv:UnspecifiedMatching MONDO:0011663 juvenile primary lateral sclerosis skos:exactMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:UnspecifiedMatching MONDO:0011663 juvenile primary lateral sclerosis skos:exactMatch SCTID:717964007 semapv:UnspecifiedMatching MONDO:0011663 juvenile primary lateral sclerosis skos:exactMatch UMLS:C1853396 semapv:UnspecifiedMatching MONDO:0011663 juvenile primary lateral sclerosis skos:exactMatch mesh:C536416 semapv:UnspecifiedMatching MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch DOID:0111968 immunodeficiency 41 semapv:UnspecifiedMatching MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:UnspecifiedMatching MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch Orphanet:169100 Immunodeficiency due to CD25 deficiency semapv:UnspecifiedMatching MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch UMLS:C1853392 semapv:UnspecifiedMatching MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch mesh:C565232 semapv:UnspecifiedMatching MONDO:0011667 maturity-onset diabetes of the young type 4 skos:exactMatch DOID:0111103 maturity-onset diabetes of the young type 4 semapv:UnspecifiedMatching MONDO:0011667 maturity-onset diabetes of the young type 4 skos:exactMatch NCIT:C129746 PDX1-Associated Monogenic Diabetes semapv:UnspecifiedMatching MONDO:0011667 maturity-onset diabetes of the young type 4 skos:exactMatch OMIM:606392 maturity-onset diabetes of the young, iia 4 semapv:UnspecifiedMatching MONDO:0011667 maturity-onset diabetes of the young type 4 skos:exactMatch SCTID:609571007 semapv:UnspecifiedMatching MONDO:0011667 maturity-onset diabetes of the young type 4 skos:exactMatch mesh:C563451 semapv:UnspecifiedMatching MONDO:0011668 maturity-onset diabetes of the young type 6 skos:exactMatch DOID:0111104 maturity-onset diabetes of the young type 6 semapv:UnspecifiedMatching MONDO:0011668 maturity-onset diabetes of the young type 6 skos:exactMatch NCIT:C129745 Neurogenic Differentiation Factor 1-Associated Monogenic Diabetes semapv:UnspecifiedMatching MONDO:0011668 maturity-onset diabetes of the young type 6 skos:exactMatch OMIM:606394 maturity-onset diabetes of the young, iia 6 semapv:UnspecifiedMatching MONDO:0011668 maturity-onset diabetes of the young type 6 skos:exactMatch SCTID:609573005 semapv:UnspecifiedMatching MONDO:0011668 maturity-onset diabetes of the young type 6 skos:exactMatch UMLS:C1853371 semapv:UnspecifiedMatching MONDO:0011668 maturity-onset diabetes of the young type 6 skos:exactMatch mesh:C565231 semapv:UnspecifiedMatching MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch DOID:0060858 hypotonia-cystinuria syndrome semapv:UnspecifiedMatching MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch OMIM:606407 hypotonia-cystinuria syndrome semapv:UnspecifiedMatching MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:163690 Hypotonia-cystinuria syndrome semapv:UnspecifiedMatching MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:238517 Hypotonia-cystinuria type 1 syndrome semapv:UnspecifiedMatching MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch SCTID:721173005 semapv:UnspecifiedMatching MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch UMLS:C1848030 semapv:UnspecifiedMatching MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch mesh:C564710 semapv:UnspecifiedMatching MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:exactMatch DOID:0080731 Ehlers-Danlos syndrome classic-like 1 semapv:UnspecifiedMatching MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:exactMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:UnspecifiedMatching MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:exactMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:UnspecifiedMatching MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:exactMatch UMLS:C1848029 semapv:UnspecifiedMatching MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:exactMatch mesh:C536193 semapv:UnspecifiedMatching MONDO:0011671 Huntington disease-like 2 skos:exactMatch DOID:0090104 Huntington's disease-like 2 semapv:UnspecifiedMatching MONDO:0011671 Huntington disease-like 2 skos:exactMatch OMIM:606438 huntington disease-like 2 semapv:UnspecifiedMatching MONDO:0011671 Huntington disease-like 2 skos:exactMatch Orphanet:98934 Huntington disease-like 2 semapv:UnspecifiedMatching MONDO:0011671 Huntington disease-like 2 skos:exactMatch SCTID:721228006 semapv:UnspecifiedMatching MONDO:0011671 Huntington disease-like 2 skos:exactMatch UMLS:C1847987 semapv:UnspecifiedMatching MONDO:0011671 Huntington disease-like 2 skos:exactMatch mesh:C564708 semapv:UnspecifiedMatching MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:exactMatch OMIM:606445 persistent polyclonal b-cell lymphocytosis semapv:UnspecifiedMatching MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:exactMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:UnspecifiedMatching MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:exactMatch SCTID:763864008 semapv:UnspecifiedMatching MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:exactMatch UMLS:C1847973 semapv:UnspecifiedMatching MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:exactMatch mesh:C564707 semapv:UnspecifiedMatching MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:exactMatch DOID:0110560 autosomal dominant nonsyndromic deafness 30 semapv:UnspecifiedMatching MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:exactMatch OMIM:606451 deafness, autosomal dominant 30 semapv:UnspecifiedMatching MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:exactMatch UMLS:C1847972 semapv:UnspecifiedMatching MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:exactMatch mesh:C564706 semapv:UnspecifiedMatching MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:exactMatch DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B semapv:UnspecifiedMatching MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:exactMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:UnspecifiedMatching MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:exactMatch Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B semapv:UnspecifiedMatching MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:exactMatch SCTID:765745007 semapv:UnspecifiedMatching MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:exactMatch UMLS:C1847902 semapv:UnspecifiedMatching MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:exactMatch DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A semapv:UnspecifiedMatching MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:exactMatch OMIM:606483 charcot-marie-tooth disease, axonal, iia 2gg semapv:UnspecifiedMatching MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:exactMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:UnspecifiedMatching MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:exactMatch SCTID:765744006 semapv:UnspecifiedMatching MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:exactMatch UMLS:C5561933 semapv:UnspecifiedMatching MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:exactMatch mesh:C564702 semapv:UnspecifiedMatching MONDO:0011676 PHACE syndrome skos:exactMatch OMIM:606519 phace association semapv:UnspecifiedMatching MONDO:0011676 PHACE syndrome skos:exactMatch Orphanet:42775 PHACE syndrome semapv:UnspecifiedMatching MONDO:0011676 PHACE syndrome skos:exactMatch UMLS:C1847874 semapv:UnspecifiedMatching MONDO:0011677 Megarbane syndrome skos:exactMatch OMIM:606527 megarbane syndrome semapv:UnspecifiedMatching MONDO:0011677 Megarbane syndrome skos:exactMatch UMLS:C1847871 semapv:UnspecifiedMatching MONDO:0011677 Megarbane syndrome skos:exactMatch mesh:C536145 semapv:UnspecifiedMatching MONDO:0011678 homozygous 11P15-p14 deletion syndrome skos:exactMatch OMIM:606528 homozygous 11p15-p14 deletion syndrome semapv:UnspecifiedMatching MONDO:0011678 homozygous 11P15-p14 deletion syndrome skos:exactMatch UMLS:C1847866 semapv:UnspecifiedMatching MONDO:0011678 homozygous 11P15-p14 deletion syndrome skos:exactMatch mesh:C564701 semapv:UnspecifiedMatching MONDO:0011679 craniosynostosis syndrome, autosomal recessive skos:exactMatch OMIM:606529 craniosynostosis syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO:0011679 craniosynostosis syndrome, autosomal recessive skos:exactMatch UMLS:C1847865 semapv:UnspecifiedMatching MONDO:0011679 craniosynostosis syndrome, autosomal recessive skos:exactMatch mesh:C564700 semapv:UnspecifiedMatching MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:exactMatch DOID:0060711 autosomal recessive congenital ichthyosis 3 semapv:UnspecifiedMatching MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:exactMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:UnspecifiedMatching MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:exactMatch mesh:C564699 semapv:UnspecifiedMatching MONDO:0011681 episodic ataxia type 4 skos:exactMatch DOID:0050992 episodic ataxia type 4 semapv:UnspecifiedMatching MONDO:0011681 episodic ataxia type 4 skos:exactMatch OMIM:606552 episodic ataxia, iia 4 semapv:UnspecifiedMatching MONDO:0011681 episodic ataxia type 4 skos:exactMatch Orphanet:79136 Episodic ataxia type 4 semapv:UnspecifiedMatching MONDO:0011681 episodic ataxia type 4 skos:exactMatch SCTID:718754008 semapv:UnspecifiedMatching MONDO:0011681 episodic ataxia type 4 skos:exactMatch UMLS:C1847843 semapv:UnspecifiedMatching MONDO:0011681 episodic ataxia type 4 skos:exactMatch mesh:C564698 semapv:UnspecifiedMatching MONDO:0011682 episodic ataxia type 3 skos:exactMatch DOID:0050991 episodic ataxia type 3 semapv:UnspecifiedMatching MONDO:0011682 episodic ataxia type 3 skos:exactMatch OMIM:606554 episodic ataxia, iia 3 semapv:UnspecifiedMatching MONDO:0011682 episodic ataxia type 3 skos:exactMatch Orphanet:79135 Episodic ataxia type 3 semapv:UnspecifiedMatching MONDO:0011682 episodic ataxia type 3 skos:exactMatch SCTID:718755009 semapv:UnspecifiedMatching MONDO:0011682 episodic ataxia type 3 skos:exactMatch UMLS:C1847839 semapv:UnspecifiedMatching MONDO:0011682 episodic ataxia type 3 skos:exactMatch mesh:C564697 semapv:UnspecifiedMatching MONDO:0011683 oculocutaneous albinism type 4 skos:exactMatch DOID:0070098 oculocutaneous albinism type IV semapv:UnspecifiedMatching MONDO:0011683 oculocutaneous albinism type 4 skos:exactMatch OMIM:606574 albinism, oculocutaneous, iia 4 semapv:UnspecifiedMatching MONDO:0011683 oculocutaneous albinism type 4 skos:exactMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:UnspecifiedMatching MONDO:0011683 oculocutaneous albinism type 4 skos:exactMatch SCTID:715632003 semapv:UnspecifiedMatching MONDO:0011683 oculocutaneous albinism type 4 skos:exactMatch UMLS:C1847836 semapv:UnspecifiedMatching MONDO:0011683 oculocutaneous albinism type 4 skos:exactMatch mesh:C564696 semapv:UnspecifiedMatching MONDO:0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 skos:exactMatch OMIM:606579 vitiligo-associated multiple autoimmune disease susceptibility 1 semapv:UnspecifiedMatching MONDO:0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 skos:exactMatch UMLS:C1847835 semapv:UnspecifiedMatching MONDO:0011685 polysubstance abuse, susceptibility to skos:exactMatch OMIM:606581 polysubstance abuse, susceptibility to semapv:UnspecifiedMatching MONDO:0011686 DNA ligase IV deficiency skos:exactMatch DOID:0060021 DNA ligase IV deficiency semapv:UnspecifiedMatching MONDO:0011686 DNA ligase IV deficiency skos:exactMatch NCIT:C122657 LIG4 Syndrome semapv:UnspecifiedMatching MONDO:0011686 DNA ligase IV deficiency skos:exactMatch OMIM:606593 lig4 syndrome semapv:UnspecifiedMatching MONDO:0011686 DNA ligase IV deficiency skos:exactMatch Orphanet:99812 LIG4 syndrome semapv:UnspecifiedMatching MONDO:0011686 DNA ligase IV deficiency skos:exactMatch SCTID:724177005 semapv:UnspecifiedMatching MONDO:0011686 DNA ligase IV deficiency skos:exactMatch UMLS:C1847827 semapv:UnspecifiedMatching MONDO:0011686 DNA ligase IV deficiency skos:exactMatch mesh:C564694 semapv:UnspecifiedMatching MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:exactMatch DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F semapv:UnspecifiedMatching MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:exactMatch OMIM:606595 charcot-marie-tooth disease, axonal, iia 2f semapv:UnspecifiedMatching MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:exactMatch Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:UnspecifiedMatching MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:exactMatch SCTID:719510006 semapv:UnspecifiedMatching MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:exactMatch UMLS:C1847823 semapv:UnspecifiedMatching MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:exactMatch mesh:C535413 semapv:UnspecifiedMatching MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:exactMatch DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 semapv:UnspecifiedMatching MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:exactMatch OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 semapv:UnspecifiedMatching MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:exactMatch UMLS:C1847759 semapv:UnspecifiedMatching MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:exactMatch mesh:C564691 semapv:UnspecifiedMatching MONDO:0011689 dyslexia, susceptibility to, 6 skos:exactMatch OMIM:606616 dyslexia, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0011690 Camurati-Engelmann disease, type 2 skos:exactMatch OMIM:606631 camurati-engelmann disease, iia 2 semapv:UnspecifiedMatching MONDO:0011690 Camurati-Engelmann disease, type 2 skos:exactMatch UMLS:C2931683 semapv:UnspecifiedMatching MONDO:0011690 Camurati-Engelmann disease, type 2 skos:exactMatch mesh:C537978 semapv:UnspecifiedMatching MONDO:0011691 amyotrophic lateral sclerosis type 3 skos:exactMatch DOID:0060195 amyotrophic lateral sclerosis type 3 semapv:UnspecifiedMatching MONDO:0011691 amyotrophic lateral sclerosis type 3 skos:exactMatch OMIM:606640 amyotrophic lateral sclerosis 3 semapv:UnspecifiedMatching MONDO:0011691 amyotrophic lateral sclerosis type 3 skos:exactMatch mesh:C564688 semapv:UnspecifiedMatching MONDO:0011693 glaucoma, normal tension, susceptibility to skos:exactMatch OMIM:606657 glaucoma, normal tension, susceptibility to semapv:UnspecifiedMatching MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch DOID:0050965 spinocerebellar ataxia type 15 semapv:UnspecifiedMatching MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch NCIT:C150250 Spinocerebellar Ataxia Type 16 semapv:UnspecifiedMatching MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch OMIM:606658 spinocerebellar ataxia 15 semapv:UnspecifiedMatching MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch Orphanet:98769 Spinocerebellar ataxia type 15/16 semapv:UnspecifiedMatching MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch SCTID:716724006 semapv:UnspecifiedMatching MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch UMLS:C1847725 semapv:UnspecifiedMatching MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch mesh:C564685 semapv:UnspecifiedMatching MONDO:0011695 melanoma, uveal, susceptibility to, 1 skos:exactMatch OMIM:606660 melanoma, uveal, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011696 melanoma, uveal, susceptibility to, 2 skos:exactMatch OMIM:606661 melanoma, uveal, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011697 Waardenburg syndrome type 2C skos:exactMatch DOID:0110951 Waardenburg syndrome type 2C semapv:UnspecifiedMatching MONDO:0011697 Waardenburg syndrome type 2C skos:exactMatch OMIM:606662 waardenburg syndrome, iia 2c semapv:UnspecifiedMatching MONDO:0011697 Waardenburg syndrome type 2C skos:exactMatch UMLS:C1847722 semapv:UnspecifiedMatching MONDO:0011697 Waardenburg syndrome type 2C skos:exactMatch mesh:C564684 semapv:UnspecifiedMatching MONDO:0011698 glycine N-methyltransferase deficiency skos:exactMatch DOID:0111037 glycine N-methyltransferase deficiency semapv:UnspecifiedMatching MONDO:0011698 glycine N-methyltransferase deficiency skos:exactMatch OMIM:606664 glycine n-methyltransferase deficiency semapv:UnspecifiedMatching MONDO:0011698 glycine N-methyltransferase deficiency skos:exactMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:UnspecifiedMatching MONDO:0011698 glycine N-methyltransferase deficiency skos:exactMatch SCTID:763720007 semapv:UnspecifiedMatching MONDO:0011698 glycine N-methyltransferase deficiency skos:exactMatch UMLS:C1847720 semapv:UnspecifiedMatching MONDO:0011699 inflammatory bowel disease 8 skos:exactMatch DOID:0110904 inflammatory bowel disease 8 semapv:UnspecifiedMatching MONDO:0011699 inflammatory bowel disease 8 skos:exactMatch OMIM:606668 inflammatory bowel disease 8 semapv:UnspecifiedMatching MONDO:0011699 inflammatory bowel disease 8 skos:exactMatch UMLS:C1847719 semapv:UnspecifiedMatching MONDO:0011699 inflammatory bowel disease 8 skos:exactMatch mesh:C564682 semapv:UnspecifiedMatching MONDO:0011700 inflammatory bowel disease 6 skos:exactMatch DOID:0110907 inflammatory bowel disease 6 semapv:UnspecifiedMatching MONDO:0011700 inflammatory bowel disease 6 skos:exactMatch OMIM:606674 inflammatory bowel disease 6 semapv:UnspecifiedMatching MONDO:0011700 inflammatory bowel disease 6 skos:exactMatch UMLS:C1847692 semapv:UnspecifiedMatching MONDO:0011700 inflammatory bowel disease 6 skos:exactMatch mesh:C564681 semapv:UnspecifiedMatching MONDO:0011701 inflammatory bowel disease 4 skos:exactMatch DOID:0110903 inflammatory bowel disease 4 semapv:UnspecifiedMatching MONDO:0011701 inflammatory bowel disease 4 skos:exactMatch OMIM:606675 inflammatory bowel disease 4 semapv:UnspecifiedMatching MONDO:0011701 inflammatory bowel disease 4 skos:exactMatch UMLS:C1847691 semapv:UnspecifiedMatching MONDO:0011701 inflammatory bowel disease 4 skos:exactMatch mesh:C564680 semapv:UnspecifiedMatching MONDO:0011702 dilated cardiomyopathy 1L skos:exactMatch DOID:0110436 dilated cardiomyopathy 1L semapv:UnspecifiedMatching MONDO:0011702 dilated cardiomyopathy 1L skos:exactMatch OMIM:606685 cardiomyopathy, dilated, 1l semapv:UnspecifiedMatching MONDO:0011702 dilated cardiomyopathy 1L skos:exactMatch UMLS:C1847667 semapv:UnspecifiedMatching MONDO:0011702 dilated cardiomyopathy 1L skos:exactMatch mesh:C564679 semapv:UnspecifiedMatching MONDO:0011703 spongiform encephalopathy with neuropsychiatric features skos:exactMatch OMIM:606688 spongiform encephalopathy with neuropsychiatric features semapv:UnspecifiedMatching MONDO:0011703 spongiform encephalopathy with neuropsychiatric features skos:exactMatch UMLS:C1847650 semapv:UnspecifiedMatching MONDO:0011703 spongiform encephalopathy with neuropsychiatric features skos:exactMatch mesh:C564678 semapv:UnspecifiedMatching MONDO:0011704 obsolete glaucoma 1, open angle, B skos:exactMatch OMIM:606689 glaucoma 1, open angle, B semapv:UnspecifiedMatching MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch ICD10CM:J84.81 Lymphangioleiomyomatosis semapv:UnspecifiedMatching MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch NCIT:C3725 Lymphangioleiomyomatosis semapv:UnspecifiedMatching MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch OMIM:606690 lymphangioleiomyomatosis semapv:UnspecifiedMatching MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch mesh:D018192 semapv:UnspecifiedMatching MONDO:0011706 Kufor-Rakeb syndrome skos:exactMatch DOID:0060556 Kufor-Rakeb syndrome semapv:UnspecifiedMatching MONDO:0011706 Kufor-Rakeb syndrome skos:exactMatch OMIM:606693 kufor-rakeb syndrome semapv:UnspecifiedMatching MONDO:0011706 Kufor-Rakeb syndrome skos:exactMatch Orphanet:306674 Kufor-Rakeb syndrome semapv:UnspecifiedMatching MONDO:0011706 Kufor-Rakeb syndrome skos:exactMatch mesh:C537177 semapv:UnspecifiedMatching MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:exactMatch DOID:0110563 autosomal dominant nonsyndromic deafness 36 semapv:UnspecifiedMatching MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:exactMatch OMIM:606705 deafness, autosomal dominant 36 semapv:UnspecifiedMatching MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:exactMatch UMLS:C1847626 semapv:UnspecifiedMatching MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:exactMatch mesh:C564675 semapv:UnspecifiedMatching MONDO:0011709 split hand-foot malformation 5 skos:exactMatch DOID:0090022 split hand-foot malformation 5 semapv:UnspecifiedMatching MONDO:0011709 split hand-foot malformation 5 skos:exactMatch NCIT:C75002 Split-Hand/Foot Malformation Type 5 semapv:UnspecifiedMatching MONDO:0011709 split hand-foot malformation 5 skos:exactMatch OMIM:606708 split-hand/foot malformation 5 semapv:UnspecifiedMatching MONDO:0011709 split hand-foot malformation 5 skos:exactMatch UMLS:C1847622 semapv:UnspecifiedMatching MONDO:0011709 split hand-foot malformation 5 skos:exactMatch mesh:C564674 semapv:UnspecifiedMatching MONDO:0011710 specific language impairment 1 skos:exactMatch OMIM:606711 specific language impairment 1 semapv:UnspecifiedMatching MONDO:0011710 specific language impairment 1 skos:exactMatch UMLS:C1847614 semapv:UnspecifiedMatching MONDO:0011711 specific language impairment 2 skos:exactMatch OMIM:606712 specific language impairment 2 semapv:UnspecifiedMatching MONDO:0011711 specific language impairment 2 skos:exactMatch UMLS:C1847605 semapv:UnspecifiedMatching MONDO:0011712 van der Woude syndrome 2 skos:exactMatch OMIM:606713 van der woude syndrome 2 semapv:UnspecifiedMatching MONDO:0011712 van der Woude syndrome 2 skos:exactMatch UMLS:C1847604 semapv:UnspecifiedMatching MONDO:0011712 van der Woude syndrome 2 skos:exactMatch mesh:C536529 semapv:UnspecifiedMatching MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch NCIT:C176904 Melanoma-Pancreatic Cancer Syndrome semapv:UnspecifiedMatching MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch OMIM:606719 melanoma-pancreatic cancer syndrome semapv:UnspecifiedMatching MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch mesh:C563985 semapv:UnspecifiedMatching MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome skos:exactMatch OMIM:606721 lipodystrophy, familial partial, iia 7 semapv:UnspecifiedMatching MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome skos:exactMatch UMLS:C3807567 semapv:UnspecifiedMatching MONDO:0011715 Seckel syndrome 2 skos:exactMatch DOID:0070013 Seckel syndrome 2 semapv:UnspecifiedMatching MONDO:0011715 Seckel syndrome 2 skos:exactMatch OMIM:606744 seckel syndrome 2 semapv:UnspecifiedMatching MONDO:0011715 Seckel syndrome 2 skos:exactMatch UMLS:C1847572 semapv:UnspecifiedMatching MONDO:0011715 Seckel syndrome 2 skos:exactMatch mesh:C537534 semapv:UnspecifiedMatching MONDO:0011716 acute hemorrhagic leukoencephalitis skos:exactMatch DOID:10992 acute hemorrhagic leukoencephalitis semapv:UnspecifiedMatching MONDO:0011716 acute hemorrhagic leukoencephalitis skos:exactMatch NCIT:C84535 Acute Hemorrhagic Leukoencephalitis semapv:UnspecifiedMatching MONDO:0011716 acute hemorrhagic leukoencephalitis skos:exactMatch OMIM:606752 acute hemorrhagic leukoencephalitis semapv:UnspecifiedMatching MONDO:0011716 acute hemorrhagic leukoencephalitis skos:exactMatch SCTID:72986009 semapv:UnspecifiedMatching MONDO:0011716 acute hemorrhagic leukoencephalitis skos:exactMatch UMLS:C0014077 semapv:UnspecifiedMatching MONDO:0011716 acute hemorrhagic leukoencephalitis skos:exactMatch mesh:D004684 semapv:UnspecifiedMatching MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:exactMatch DOID:0070217 familial hyperinsulinemic hypoglycemia 6 semapv:UnspecifiedMatching MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:exactMatch NCIT:C131832 Glutamate Dehydrogenase 1 Hyperinsulinism semapv:UnspecifiedMatching MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:exactMatch OMIM:606762 hyperinsulinemic hypoglycemia, familial, 6 semapv:UnspecifiedMatching MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:exactMatch Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome semapv:UnspecifiedMatching MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:exactMatch UMLS:C1847555 semapv:UnspecifiedMatching MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:exactMatch mesh:C538375 semapv:UnspecifiedMatching MONDO:0011718 primary ciliary dyskinesia 2 skos:exactMatch DOID:0110626 primary ciliary dyskinesia 2 semapv:UnspecifiedMatching MONDO:0011718 primary ciliary dyskinesia 2 skos:exactMatch OMIM:606763 ciliary dyskinesia, primary, 2 semapv:UnspecifiedMatching MONDO:0011718 primary ciliary dyskinesia 2 skos:exactMatch UMLS:C1847554 semapv:UnspecifiedMatching MONDO:0011718 primary ciliary dyskinesia 2 skos:exactMatch mesh:C535277 semapv:UnspecifiedMatching MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch DOID:9253 gastrointestinal stromal tumor semapv:UnspecifiedMatching MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch NCIT:C3868 Gastrointestinal Stromal Tumor semapv:UnspecifiedMatching MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch OMIM:606764 gastrointestinal stromal tumor semapv:UnspecifiedMatching MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:UnspecifiedMatching MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch SCTID:420120006 semapv:UnspecifiedMatching MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch UMLS:C0238198 semapv:UnspecifiedMatching MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch mesh:D046152 semapv:UnspecifiedMatching MONDO:0011720 spermatogenic failure 3 skos:exactMatch DOID:0070168 spermatogenic failure 3 semapv:UnspecifiedMatching MONDO:0011720 spermatogenic failure 3 skos:exactMatch OMIM:606766 spermatogenic failure 3 semapv:UnspecifiedMatching MONDO:0011720 spermatogenic failure 3 skos:exactMatch UMLS:C4721889 semapv:UnspecifiedMatching MONDO:0011720 spermatogenic failure 3 skos:exactMatch mesh:C564665 semapv:UnspecifiedMatching MONDO:0011721 distal myopathy with anterior tibial onset skos:exactMatch DOID:0111187 distal myopathy with anterior tibial onset semapv:UnspecifiedMatching MONDO:0011721 distal myopathy with anterior tibial onset skos:exactMatch OMIM:606768 myopathy, distal, with anterior tibial onset semapv:UnspecifiedMatching MONDO:0011721 distal myopathy with anterior tibial onset skos:exactMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:UnspecifiedMatching MONDO:0011721 distal myopathy with anterior tibial onset skos:exactMatch UMLS:C1847532 semapv:UnspecifiedMatching MONDO:0011721 distal myopathy with anterior tibial onset skos:exactMatch mesh:C564664 semapv:UnspecifiedMatching MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:exactMatch OMIM:606772 impaired intellectual development, obesity, mandibular prognathism, and eye and skin anomalies semapv:UnspecifiedMatching MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:exactMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:UnspecifiedMatching MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:exactMatch UMLS:C1847522 semapv:UnspecifiedMatching MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:exactMatch mesh:C564660 semapv:UnspecifiedMatching MONDO:0011723 hemifacial myohyperplasia skos:exactMatch OMIM:606773 hemifacial myohyperplasia semapv:UnspecifiedMatching MONDO:0011723 hemifacial myohyperplasia skos:exactMatch Orphanet:141148 Hemifacial myohyperplasia semapv:UnspecifiedMatching MONDO:0011723 hemifacial myohyperplasia skos:exactMatch SCTID:699420006 semapv:UnspecifiedMatching MONDO:0011723 hemifacial myohyperplasia skos:exactMatch mesh:C535862 semapv:UnspecifiedMatching MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:UnspecifiedMatching MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:UnspecifiedMatching MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch UMLS:C4551966 semapv:UnspecifiedMatching MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch mesh:C536830 semapv:UnspecifiedMatching MONDO:0011725 Crigler-Najjar syndrome type 2 skos:exactMatch OMIM:606785 crigler-najjar syndrome, iia 2 semapv:UnspecifiedMatching MONDO:0011725 Crigler-Najjar syndrome type 2 skos:exactMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:UnspecifiedMatching MONDO:0011725 Crigler-Najjar syndrome type 2 skos:exactMatch SCTID:68067009 semapv:UnspecifiedMatching MONDO:0011725 Crigler-Najjar syndrome type 2 skos:exactMatch UMLS:C2931132 semapv:UnspecifiedMatching MONDO:0011725 Crigler-Najjar syndrome type 2 skos:exactMatch mesh:C536213 semapv:UnspecifiedMatching MONDO:0011726 peripheral arterial occlusive disease 1 skos:exactMatch OMIM:606787 peripheral arterial occlusive disease 1 semapv:UnspecifiedMatching MONDO:0011726 peripheral arterial occlusive disease 1 skos:exactMatch UMLS:C1847493 semapv:UnspecifiedMatching MONDO:0011726 peripheral arterial occlusive disease 1 skos:exactMatch mesh:C564658 semapv:UnspecifiedMatching MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:exactMatch OMIM:606788 anorexia nervosa, susceptibility to semapv:UnspecifiedMatching MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:exactMatch UMLS:C1847492 semapv:UnspecifiedMatching MONDO:0011728 benign essential blepharospasm skos:exactMatch DOID:529 blepharospasm semapv:UnspecifiedMatching MONDO:0011728 benign essential blepharospasm skos:exactMatch ICD10CM:G24.5 Blepharospasm semapv:UnspecifiedMatching MONDO:0011728 benign essential blepharospasm skos:exactMatch SCTID:59026006 semapv:UnspecifiedMatching MONDO:0011728 benign essential blepharospasm skos:exactMatch UMLS:C0005747 semapv:UnspecifiedMatching MONDO:0011728 benign essential blepharospasm skos:exactMatch mesh:D001764 semapv:UnspecifiedMatching MONDO:0011729 stroke, susceptibility to, 1 skos:exactMatch OMIM:606799 stroke, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011730 fumaric aciduria skos:exactMatch DOID:0111261 fumarase deficiency semapv:UnspecifiedMatching MONDO:0011730 fumaric aciduria skos:exactMatch OMIM:606812 fumarase deficiency semapv:UnspecifiedMatching MONDO:0011730 fumaric aciduria skos:exactMatch Orphanet:24 Fumaric aciduria semapv:UnspecifiedMatching MONDO:0011730 fumaric aciduria skos:exactMatch SCTID:237983002 semapv:UnspecifiedMatching MONDO:0011730 fumaric aciduria skos:exactMatch UMLS:C0342770 semapv:UnspecifiedMatching MONDO:0011730 fumaric aciduria skos:exactMatch mesh:C538191 semapv:UnspecifiedMatching MONDO:0011731 glucose-galactose malabsorption skos:exactMatch OMIM:606824 glucose/galactose malabsorption semapv:UnspecifiedMatching MONDO:0011731 glucose-galactose malabsorption skos:exactMatch Orphanet:35710 Glucose-galactose malabsorption semapv:UnspecifiedMatching MONDO:0011731 glucose-galactose malabsorption skos:exactMatch SCTID:190749000 semapv:UnspecifiedMatching MONDO:0011731 glucose-galactose malabsorption skos:exactMatch mesh:C562602 semapv:UnspecifiedMatching MONDO:0011732 familial digital arthropathy-brachydactyly skos:exactMatch NCIT:C175208 Familial Digital Arthropathy-Brachydactyly semapv:UnspecifiedMatching MONDO:0011732 familial digital arthropathy-brachydactyly skos:exactMatch OMIM:606835 digital arthropathy-brachydactyly, familial semapv:UnspecifiedMatching MONDO:0011732 familial digital arthropathy-brachydactyly skos:exactMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:UnspecifiedMatching MONDO:0011732 familial digital arthropathy-brachydactyly skos:exactMatch UMLS:C1847406 semapv:UnspecifiedMatching MONDO:0011732 familial digital arthropathy-brachydactyly skos:exactMatch mesh:C564656 semapv:UnspecifiedMatching MONDO:0011733 parasomnia, sleep bruxism type skos:exactMatch OMIM:606840 parasomnia, sleep bruxism iia semapv:UnspecifiedMatching MONDO:0011733 parasomnia, sleep bruxism type skos:exactMatch mesh:C536389 semapv:UnspecifiedMatching MONDO:0011734 Cardioneuromyopathy with hyaline masses and nemaline rods skos:exactMatch OMIM:606842 cardioneuromyopathy with hyaline masses and nemaline rods semapv:UnspecifiedMatching MONDO:0011734 Cardioneuromyopathy with hyaline masses and nemaline rods skos:exactMatch UMLS:C1847387 semapv:UnspecifiedMatching MONDO:0011734 Cardioneuromyopathy with hyaline masses and nemaline rods skos:exactMatch mesh:C564655 semapv:UnspecifiedMatching MONDO:0011735 hyper-IgM syndrome type 3 skos:exactMatch DOID:0060023 immunodeficiency with hyper IgM type 3 semapv:UnspecifiedMatching MONDO:0011735 hyper-IgM syndrome type 3 skos:exactMatch OMIM:606843 immunodeficiency with hyper-igm, iia 3 semapv:UnspecifiedMatching MONDO:0011735 hyper-IgM syndrome type 3 skos:exactMatch Orphanet:101090 Hyper-IgM syndrome type 3 semapv:UnspecifiedMatching MONDO:0011736 Cree intellectual disability syndrome skos:exactMatch OMIM:606851 cree mental retardation syndrome semapv:UnspecifiedMatching MONDO:0011736 Cree intellectual disability syndrome skos:exactMatch UMLS:C1847361 semapv:UnspecifiedMatching MONDO:0011736 Cree intellectual disability syndrome skos:exactMatch mesh:C564654 semapv:UnspecifiedMatching MONDO:0011737 parkinson disease 10 skos:exactMatch OMIM:606852 parkinson disease 10 semapv:UnspecifiedMatching MONDO:0011737 parkinson disease 10 skos:exactMatch UMLS:C1847360 semapv:UnspecifiedMatching MONDO:0011737 parkinson disease 10 skos:exactMatch mesh:C564653 semapv:UnspecifiedMatching MONDO:0011738 bilateral frontoparietal polymicrogyria skos:exactMatch DOID:0080922 bilateral frontoparietal polymicrogyria semapv:UnspecifiedMatching MONDO:0011738 bilateral frontoparietal polymicrogyria skos:exactMatch NCIT:C148367 Bilateral Frontoparietal Polymicrogyria semapv:UnspecifiedMatching MONDO:0011738 bilateral frontoparietal polymicrogyria skos:exactMatch OMIM:606854 cortical dysplasia, complex, with other brain malformations 14a (bilateral frontoparietal) semapv:UnspecifiedMatching MONDO:0011738 bilateral frontoparietal polymicrogyria skos:exactMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:UnspecifiedMatching MONDO:0011738 bilateral frontoparietal polymicrogyria skos:exactMatch UMLS:C1847352 semapv:UnspecifiedMatching MONDO:0011738 bilateral frontoparietal polymicrogyria skos:exactMatch mesh:C564652 semapv:UnspecifiedMatching MONDO:0011739 pancreatic cancer, susceptibility to, 1 skos:exactMatch OMIM:606856 pancreatic cancer, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011740 Carney-Stratakis syndrome skos:exactMatch DOID:0080533 Carney-Stratakis syndrome semapv:UnspecifiedMatching MONDO:0011740 Carney-Stratakis syndrome skos:exactMatch NCIT:C94831 Carney-Stratakis Syndrome semapv:UnspecifiedMatching MONDO:0011740 Carney-Stratakis syndrome skos:exactMatch OMIM:606864 paraganglioma and gastric stromal sarcoma semapv:UnspecifiedMatching MONDO:0011740 Carney-Stratakis syndrome skos:exactMatch Orphanet:97286 Carney-Stratakis syndrome semapv:UnspecifiedMatching MONDO:0011740 Carney-Stratakis syndrome skos:exactMatch SCTID:722377004 semapv:UnspecifiedMatching MONDO:0011740 Carney-Stratakis syndrome skos:exactMatch UMLS:C1847319 semapv:UnspecifiedMatching MONDO:0011740 Carney-Stratakis syndrome skos:exactMatch mesh:C564650 semapv:UnspecifiedMatching MONDO:0011741 Hirschsprung disease, susceptibility to, 6 skos:exactMatch OMIM:606874 hirschsprung disease, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0011742 Hirschsprung disease, susceptibility to, 7 skos:exactMatch OMIM:606875 hirschsprung disease, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0011743 Alzheimer disease 4 skos:exactMatch DOID:0110040 Alzheimer's disease 4 semapv:UnspecifiedMatching MONDO:0011743 Alzheimer disease 4 skos:exactMatch NCIT:C123413 Alzheimer's Disease 4 semapv:UnspecifiedMatching MONDO:0011743 Alzheimer disease 4 skos:exactMatch OMIM:606889 alzheimer disease 4 semapv:UnspecifiedMatching MONDO:0011743 Alzheimer disease 4 skos:exactMatch UMLS:C1847200 semapv:UnspecifiedMatching MONDO:0011743 Alzheimer disease 4 skos:exactMatch mesh:C536596 semapv:UnspecifiedMatching MONDO:0011744 primary intraosseous venous malformation skos:exactMatch OMIM:606893 vascular malformation, primary intraosseous semapv:UnspecifiedMatching MONDO:0011744 primary intraosseous venous malformation skos:exactMatch Orphanet:140436 Primary intraosseous venous malformation semapv:UnspecifiedMatching MONDO:0011744 primary intraosseous venous malformation skos:exactMatch SCTID:764100007 semapv:UnspecifiedMatching MONDO:0011744 primary intraosseous venous malformation skos:exactMatch UMLS:C1847197 semapv:UnspecifiedMatching MONDO:0011744 primary intraosseous venous malformation skos:exactMatch mesh:C564648 semapv:UnspecifiedMatching MONDO:0011745 duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery skos:exactMatch OMIM:606894 duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery semapv:UnspecifiedMatching MONDO:0011745 duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery skos:exactMatch UMLS:C1847196 semapv:UnspecifiedMatching MONDO:0011745 duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery skos:exactMatch mesh:C535722 semapv:UnspecifiedMatching MONDO:0011746 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch skos:exactMatch OMIM:606895 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch semapv:UnspecifiedMatching MONDO:0011746 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch skos:exactMatch UMLS:C1847185 semapv:UnspecifiedMatching MONDO:0011746 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch skos:exactMatch mesh:C538148 semapv:UnspecifiedMatching MONDO:0011747 dyslexia, susceptibility to, 5 skos:exactMatch OMIM:606896 dyslexia, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0011748 Usher syndrome type 1G skos:exactMatch DOID:0110834 Usher syndrome type 1G semapv:UnspecifiedMatching MONDO:0011748 Usher syndrome type 1G skos:exactMatch OMIM:606943 usher syndrome, iia 1g semapv:UnspecifiedMatching MONDO:0011748 Usher syndrome type 1G skos:exactMatch UMLS:C1847089 semapv:UnspecifiedMatching MONDO:0011748 Usher syndrome type 1G skos:exactMatch mesh:C564643 semapv:UnspecifiedMatching MONDO:0011749 oculocutaneous albinism type 1B skos:exactMatch DOID:0070095 oculocutaneous albinism type IB semapv:UnspecifiedMatching MONDO:0011749 oculocutaneous albinism type 1B skos:exactMatch OMIM:606952 albinism, oculocutaneous, iia 1b semapv:UnspecifiedMatching MONDO:0011749 oculocutaneous albinism type 1B skos:exactMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:UnspecifiedMatching MONDO:0011749 oculocutaneous albinism type 1B skos:exactMatch UMLS:C1847024 semapv:UnspecifiedMatching MONDO:0011749 oculocutaneous albinism type 1B skos:exactMatch mesh:C537729 semapv:UnspecifiedMatching MONDO:0011750 obsolete insulinoma tumor suppressor gene locus skos:exactMatch OMIM:606960 insulinoma tumor suppressor gene locus semapv:UnspecifiedMatching MONDO:0011752 nephronophthisis 4 skos:exactMatch DOID:0111115 nephronophthisis 4 semapv:UnspecifiedMatching MONDO:0011752 nephronophthisis 4 skos:exactMatch OMIM:606966 nephronophthisis 4 semapv:UnspecifiedMatching MONDO:0011752 nephronophthisis 4 skos:exactMatch SCTID:446989009 semapv:UnspecifiedMatching MONDO:0011752 nephronophthisis 4 skos:exactMatch UMLS:C1847013 semapv:UnspecifiedMatching MONDO:0011752 nephronophthisis 4 skos:exactMatch mesh:C564640 semapv:UnspecifiedMatching MONDO:0011753 epilepsy, idiopathic generalized, susceptibility to, 2 skos:exactMatch DOID:0111317 idiopathic generalized epilepsy 2 semapv:UnspecifiedMatching MONDO:0011753 epilepsy, idiopathic generalized, susceptibility to, 2 skos:exactMatch OMIM:606972 epilepsy, idiopathic generalized, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:exactMatch OMIM:606984 hyperreninemic hypoaldosteronism, familial, 2 semapv:UnspecifiedMatching MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:exactMatch UMLS:C1846990 semapv:UnspecifiedMatching MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:exactMatch mesh:C564638 semapv:UnspecifiedMatching MONDO:0011755 senior-loken syndrome 3 skos:exactMatch OMIM:606995 senior-loken syndrome 3 semapv:UnspecifiedMatching MONDO:0011755 senior-loken syndrome 3 skos:exactMatch UMLS:C1846980 semapv:UnspecifiedMatching MONDO:0011755 senior-loken syndrome 3 skos:exactMatch mesh:C564637 semapv:UnspecifiedMatching MONDO:0011756 Senior-Loken syndrome 4 skos:exactMatch OMIM:606996 senior-loken syndrome 4 semapv:UnspecifiedMatching MONDO:0011756 Senior-Loken syndrome 4 skos:exactMatch UMLS:C1846979 semapv:UnspecifiedMatching MONDO:0011756 Senior-Loken syndrome 4 skos:exactMatch mesh:C537581 semapv:UnspecifiedMatching MONDO:0011757 brachydactyly type A1B skos:exactMatch DOID:0110974 brachydactyly type A1B semapv:UnspecifiedMatching MONDO:0011757 brachydactyly type A1B skos:exactMatch OMIM:607004 brachydactyly, iia a1, B semapv:UnspecifiedMatching MONDO:0011757 brachydactyly type A1B skos:exactMatch UMLS:C1846949 semapv:UnspecifiedMatching MONDO:0011757 brachydactyly type A1B skos:exactMatch mesh:C564635 semapv:UnspecifiedMatching MONDO:0011758 Hurler syndrome skos:exactMatch DOID:0111390 mucopolysaccharidosis Ih semapv:UnspecifiedMatching MONDO:0011758 Hurler syndrome skos:exactMatch NCIT:C61261 Hurler Syndrome semapv:UnspecifiedMatching MONDO:0011758 Hurler syndrome skos:exactMatch OMIM:607014 hurler syndrome semapv:UnspecifiedMatching MONDO:0011758 Hurler syndrome skos:exactMatch Orphanet:93473 Hurler syndrome semapv:UnspecifiedMatching MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch DOID:0111389 mucopolysaccharidosis Ih/s semapv:UnspecifiedMatching MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch NCIT:C122782 Hurler-Scheie Syndrome semapv:UnspecifiedMatching MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch OMIM:607015 hurler-scheie syndrome semapv:UnspecifiedMatching MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch Orphanet:93476 Hurler-Scheie syndrome semapv:UnspecifiedMatching MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch SCTID:73123008 semapv:UnspecifiedMatching MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch UMLS:C0086431 semapv:UnspecifiedMatching MONDO:0011760 Scheie syndrome skos:exactMatch DOID:0060222 Scheie syndrome semapv:UnspecifiedMatching MONDO:0011760 Scheie syndrome skos:exactMatch NCIT:C61265 Scheie Syndrome semapv:UnspecifiedMatching MONDO:0011760 Scheie syndrome skos:exactMatch OMIM:607016 scheie syndrome semapv:UnspecifiedMatching MONDO:0011760 Scheie syndrome skos:exactMatch Orphanet:93474 Scheie syndrome semapv:UnspecifiedMatching MONDO:0011760 Scheie syndrome skos:exactMatch UMLS:C0026708 semapv:UnspecifiedMatching MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:exactMatch DOID:0110551 autosomal dominant nonsyndromic deafness 21 semapv:UnspecifiedMatching MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:exactMatch OMIM:607017 deafness, autosomal dominant 21 semapv:UnspecifiedMatching MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:exactMatch UMLS:C1846922 semapv:UnspecifiedMatching MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:exactMatch mesh:C564634 semapv:UnspecifiedMatching MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:exactMatch DOID:0110480 autosomal recessive nonsyndromic deafness 22 semapv:UnspecifiedMatching MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:exactMatch OMIM:607039 deafness, autosomal recessive 22 semapv:UnspecifiedMatching MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:exactMatch UMLS:C1846896 semapv:UnspecifiedMatching MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:exactMatch mesh:C564633 semapv:UnspecifiedMatching MONDO:0011763 obsolete T-box 24 skos:exactMatch OMIM:607044 t-box 24 semapv:UnspecifiedMatching MONDO:0011764 autosomal dominant Parkinson disease 8 skos:exactMatch DOID:0060371 Parkinson's disease 8 semapv:UnspecifiedMatching MONDO:0011764 autosomal dominant Parkinson disease 8 skos:exactMatch OMIM:607060 parkinson disease 8, autosomal dominant semapv:UnspecifiedMatching MONDO:0011764 autosomal dominant Parkinson disease 8 skos:exactMatch UMLS:C1846862 semapv:UnspecifiedMatching MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:exactMatch DOID:0070299 multiple epiphyseal dysplasia 5 semapv:UnspecifiedMatching MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:exactMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:UnspecifiedMatching MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:exactMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:UnspecifiedMatching MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:exactMatch SCTID:715674008 semapv:UnspecifiedMatching MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:exactMatch UMLS:C1846843 semapv:UnspecifiedMatching MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:exactMatch mesh:C535505 semapv:UnspecifiedMatching MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:exactMatch OMIM:607080 46,xy gonadal dysgenesis with minifascicular neuropathy semapv:UnspecifiedMatching MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:exactMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:UnspecifiedMatching MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:exactMatch UMLS:C5436061 semapv:UnspecifiedMatching MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:exactMatch mesh:C567773 semapv:UnspecifiedMatching MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:exactMatch DOID:0110490 autosomal recessive nonsyndromic deafness 31 semapv:UnspecifiedMatching MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:exactMatch OMIM:607084 deafness, autosomal recessive 31 semapv:UnspecifiedMatching MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:exactMatch UMLS:C1846839 semapv:UnspecifiedMatching MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:exactMatch mesh:C564629 semapv:UnspecifiedMatching MONDO:0011768 myasthenia gravis with thymus hyperplasia skos:exactMatch OMIM:607085 myasthenia gravis with thymus hyperplasia semapv:UnspecifiedMatching MONDO:0011768 myasthenia gravis with thymus hyperplasia skos:exactMatch UMLS:C1846838 semapv:UnspecifiedMatching MONDO:0011768 myasthenia gravis with thymus hyperplasia skos:exactMatch mesh:C564628 semapv:UnspecifiedMatching MONDO:0011770 aortic aneurysm, familial thoracic 2 skos:exactMatch OMIM:607087 aortic aneurysm, familial thoracic 2 semapv:UnspecifiedMatching MONDO:0011770 aortic aneurysm, familial thoracic 2 skos:exactMatch UMLS:C1846837 semapv:UnspecifiedMatching MONDO:0011770 aortic aneurysm, familial thoracic 2 skos:exactMatch mesh:C564627 semapv:UnspecifiedMatching MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch DOID:0111211 distal spinal muscular atrophy type 3 semapv:UnspecifiedMatching MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch OMIM:607088 neuronopathy, distal hereditary motor, autosomal recessive 3 semapv:UnspecifiedMatching MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:UnspecifiedMatching MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch UMLS:C1846823 semapv:UnspecifiedMatching MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch mesh:C564626 semapv:UnspecifiedMatching MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch DOID:0070256 congenital disorder of glycosylation type IId semapv:UnspecifiedMatching MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch OMIM:607091 congenital disorder of glycosylation, iia iid semapv:UnspecifiedMatching MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch Orphanet:79332 B4GALT1-CDG semapv:UnspecifiedMatching MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch SCTID:725587007 semapv:UnspecifiedMatching MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch UMLS:C2931009 semapv:UnspecifiedMatching MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch mesh:C535753 semapv:UnspecifiedMatching MONDO:0011773 anauxetic dysplasia skos:exactMatch DOID:0080942 anauxetic dysplasia semapv:UnspecifiedMatching MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIMPS:607095 semapv:UnspecifiedMatching MONDO:0011773 anauxetic dysplasia skos:exactMatch Orphanet:93347 Anauxetic dysplasia semapv:UnspecifiedMatching MONDO:0011773 anauxetic dysplasia skos:exactMatch UMLS:C1846796 semapv:UnspecifiedMatching MONDO:0011773 anauxetic dysplasia skos:exactMatch mesh:C538256 semapv:UnspecifiedMatching MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:exactMatch DOID:0110489 autosomal recessive nonsyndromic deafness 30 semapv:UnspecifiedMatching MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:exactMatch OMIM:607101 deafness, autosomal recessive 30 semapv:UnspecifiedMatching MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:exactMatch UMLS:C1846784 semapv:UnspecifiedMatching MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:exactMatch mesh:C564624 semapv:UnspecifiedMatching MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:UnspecifiedMatching MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:exactMatch UMLS:C1846758 semapv:UnspecifiedMatching MONDO:0011776 CINCA syndrome skos:exactMatch DOID:0090029 CINCA Syndrome semapv:UnspecifiedMatching MONDO:0011776 CINCA syndrome skos:exactMatch NCIT:C116380 Chronic Infantile Neurological Cutaneous and Articular Syndrome semapv:UnspecifiedMatching MONDO:0011776 CINCA syndrome skos:exactMatch OMIM:607115 cinca syndrome semapv:UnspecifiedMatching MONDO:0011776 CINCA syndrome skos:exactMatch Orphanet:1451 CINCA syndrome semapv:UnspecifiedMatching MONDO:0011776 CINCA syndrome skos:exactMatch SCTID:239826001 semapv:UnspecifiedMatching MONDO:0011777 Alzheimer disease 8 skos:exactMatch DOID:0110041 Alzheimer's disease 8 semapv:UnspecifiedMatching MONDO:0011777 Alzheimer disease 8 skos:exactMatch OMIM:607116 alzheimer disease 8 semapv:UnspecifiedMatching MONDO:0011777 Alzheimer disease 8 skos:exactMatch UMLS:C1846735 semapv:UnspecifiedMatching MONDO:0011777 Alzheimer disease 8 skos:exactMatch mesh:C564622 semapv:UnspecifiedMatching MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:exactMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:UnspecifiedMatching MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:exactMatch Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type semapv:UnspecifiedMatching MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:exactMatch SCTID:719688002 semapv:UnspecifiedMatching MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:exactMatch mesh:C564621 semapv:UnspecifiedMatching MONDO:0011779 laryngeal atresia, encephalocele, and limb deformities skos:exactMatch OMIM:607132 laryngeal atresia, encephalocele, and limb deformities semapv:UnspecifiedMatching MONDO:0011779 laryngeal atresia, encephalocele, and limb deformities skos:exactMatch UMLS:C1846721 semapv:UnspecifiedMatching MONDO:0011779 laryngeal atresia, encephalocele, and limb deformities skos:exactMatch mesh:C564620 semapv:UnspecifiedMatching MONDO:0011780 specific language impairment 3 skos:exactMatch OMIM:607134 specific language impairment 3 semapv:UnspecifiedMatching MONDO:0011780 specific language impairment 3 skos:exactMatch UMLS:C1846719 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch DOID:0050967 spinocerebellar ataxia type 17 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch NCIT:C179861 Spinocerebellar Ataxia Type 17 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch OMIM:607136 spinocerebellar ataxia 17 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch SCTID:719249005 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch UMLS:C1846707 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch mesh:C563505 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch mesh:C564616 semapv:UnspecifiedMatching MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch mesh:C565866 semapv:UnspecifiedMatching MONDO:0011782 angioid streaks skos:exactMatch DOID:13401 angioid streaks semapv:UnspecifiedMatching MONDO:0011782 angioid streaks skos:exactMatch OMIM:607140 angioid streaks semapv:UnspecifiedMatching MONDO:0011782 angioid streaks skos:exactMatch UMLS:C0002982 semapv:UnspecifiedMatching MONDO:0011782 angioid streaks skos:exactMatch mesh:D000793 semapv:UnspecifiedMatching MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch DOID:0080559 congenital disorder of glycosylation Ig semapv:UnspecifiedMatching MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch NCIT:C126873 Congenital Disorder of Glycosylation Type Ig semapv:UnspecifiedMatching MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch OMIM:607143 congenital disorder of glycosylation, iia ig semapv:UnspecifiedMatching MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch Orphanet:79324 ALG12-CDG semapv:UnspecifiedMatching MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch SCTID:711155008 semapv:UnspecifiedMatching MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch UMLS:C2931001 semapv:UnspecifiedMatching MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch mesh:C535745 semapv:UnspecifiedMatching MONDO:0011784 Moyamoya disease 2 skos:exactMatch NCIT:C183312 Moyamoya Disease 2 semapv:UnspecifiedMatching MONDO:0011784 Moyamoya disease 2 skos:exactMatch OMIM:607151 moyamoya disease 2 semapv:UnspecifiedMatching MONDO:0011784 Moyamoya disease 2 skos:exactMatch UMLS:C1846689 semapv:UnspecifiedMatching MONDO:0011784 Moyamoya disease 2 skos:exactMatch mesh:C536992 semapv:UnspecifiedMatching MONDO:0011785 hereditary spastic paraplegia 19 skos:exactMatch DOID:0110772 hereditary spastic paraplegia 19 semapv:UnspecifiedMatching MONDO:0011785 hereditary spastic paraplegia 19 skos:exactMatch OMIM:607152 spastic paraplegia 19, autosomal dominant semapv:UnspecifiedMatching MONDO:0011785 hereditary spastic paraplegia 19 skos:exactMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:UnspecifiedMatching MONDO:0011785 hereditary spastic paraplegia 19 skos:exactMatch SCTID:763375003 semapv:UnspecifiedMatching MONDO:0011785 hereditary spastic paraplegia 19 skos:exactMatch UMLS:C1846685 semapv:UnspecifiedMatching MONDO:0011785 hereditary spastic paraplegia 19 skos:exactMatch mesh:C536856 semapv:UnspecifiedMatching MONDO:0011786 allergic rhinitis skos:exactMatch DOID:4481 allergic rhinitis semapv:UnspecifiedMatching MONDO:0011786 allergic rhinitis skos:exactMatch NCIT:C79532 Allergic Rhinitis semapv:UnspecifiedMatching MONDO:0011786 allergic rhinitis skos:exactMatch SCTID:61582004 semapv:UnspecifiedMatching MONDO:0011786 allergic rhinitis skos:exactMatch UMLS:C2607914 semapv:UnspecifiedMatching MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I semapv:UnspecifiedMatching MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch NCIT:C126739 Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5 semapv:UnspecifiedMatching MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 semapv:UnspecifiedMatching MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:UnspecifiedMatching MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch SCTID:718180000 semapv:UnspecifiedMatching MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch mesh:C564612 semapv:UnspecifiedMatching MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:exactMatch OMIM:607161 multiple congenital anomalies syndrome with cloverleaf skull semapv:UnspecifiedMatching MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:exactMatch Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome semapv:UnspecifiedMatching MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:exactMatch SCTID:717771007 semapv:UnspecifiedMatching MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:exactMatch UMLS:C1846671 semapv:UnspecifiedMatching MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:exactMatch mesh:C564611 semapv:UnspecifiedMatching MONDO:0011789 familial meningioma skos:exactMatch DOID:4586 familial meningioma semapv:UnspecifiedMatching MONDO:0011789 familial meningioma skos:exactMatch NCIT:C5301 Hereditary Meningioma semapv:UnspecifiedMatching MONDO:0011789 familial meningioma skos:exactMatch OMIM:607174 meningioma, familial, susceptibility to semapv:UnspecifiedMatching MONDO:0011789 familial meningioma skos:exactMatch UMLS:C3551915 semapv:UnspecifiedMatching MONDO:0011789 familial meningioma skos:exactMatch mesh:C537443 semapv:UnspecifiedMatching MONDO:0011790 Amish lethal microcephaly skos:exactMatch OMIM:607196 microcephaly, amish iia semapv:UnspecifiedMatching MONDO:0011790 Amish lethal microcephaly skos:exactMatch Orphanet:99742 Amish lethal microcephaly semapv:UnspecifiedMatching MONDO:0011790 Amish lethal microcephaly skos:exactMatch SCTID:702437000 semapv:UnspecifiedMatching MONDO:0011790 Amish lethal microcephaly skos:exactMatch UMLS:C1846648 semapv:UnspecifiedMatching MONDO:0011790 Amish lethal microcephaly skos:exactMatch mesh:C538247 semapv:UnspecifiedMatching MONDO:0011792 thyroid dyshormonogenesis 6 skos:exactMatch DOID:0112189 thyroid dyshormonogenesis 6 semapv:UnspecifiedMatching MONDO:0011792 thyroid dyshormonogenesis 6 skos:exactMatch OMIM:607200 thyroid dyshormonogenesis 6 semapv:UnspecifiedMatching MONDO:0011792 thyroid dyshormonogenesis 6 skos:exactMatch UMLS:C1846632 semapv:UnspecifiedMatching MONDO:0011792 thyroid dyshormonogenesis 6 skos:exactMatch mesh:C564608 semapv:UnspecifiedMatching MONDO:0011793 celiac disease, susceptibility to, 5 skos:exactMatch OMIM:607202 celiac disease, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0011794 obsolete Dravet syndrome skos:exactMatch Orphanet:33069 Dravet syndrome semapv:UnspecifiedMatching MONDO:0011795 anonychia-microcephaly syndrome skos:exactMatch OMIM:607214 anonychia, total, with microcephaly semapv:UnspecifiedMatching MONDO:0011795 anonychia-microcephaly syndrome skos:exactMatch Orphanet:1094 Anonychia-microcephaly syndrome semapv:UnspecifiedMatching MONDO:0011795 anonychia-microcephaly syndrome skos:exactMatch SCTID:720494009 semapv:UnspecifiedMatching MONDO:0011796 epilepsy, partial, with pericentral spikes skos:exactMatch OMIM:607221 epilepsy, partial, with pericentral spikes semapv:UnspecifiedMatching MONDO:0011796 epilepsy, partial, with pericentral spikes skos:exactMatch UMLS:C1846609 semapv:UnspecifiedMatching MONDO:0011796 epilepsy, partial, with pericentral spikes skos:exactMatch mesh:C564605 semapv:UnspecifiedMatching MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:exactMatch OMIM:607225 spastic paralysis, infantile-onset ascending semapv:UnspecifiedMatching MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:exactMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:UnspecifiedMatching MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:exactMatch SCTID:703543005 semapv:UnspecifiedMatching MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:exactMatch UMLS:C2931441 semapv:UnspecifiedMatching MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:exactMatch mesh:C537217 semapv:UnspecifiedMatching MONDO:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch OMIM:607236 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration semapv:UnspecifiedMatching MONDO:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch UMLS:C1846582 semapv:UnspecifiedMatching MONDO:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch mesh:C564603 semapv:UnspecifiedMatching MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:exactMatch DOID:0110492 autosomal recessive nonsyndromic deafness 33 semapv:UnspecifiedMatching MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:exactMatch OMIM:607239 deafness, autosomal recessive 33 semapv:UnspecifiedMatching MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:exactMatch UMLS:C1846576 semapv:UnspecifiedMatching MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:exactMatch mesh:C564602 semapv:UnspecifiedMatching MONDO:0011800 glioma susceptibility 4 skos:exactMatch OMIM:607248 glioma susceptibility 4 semapv:UnspecifiedMatching MONDO:0011800 glioma susceptibility 4 skos:exactMatch UMLS:C2750944 semapv:UnspecifiedMatching MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:exactMatch DOID:0090115 spinocerebellar ataxia with axonal neuropathy 1 semapv:UnspecifiedMatching MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:exactMatch OMIM:607250 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 semapv:UnspecifiedMatching MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:exactMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:UnspecifiedMatching MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:exactMatch SCTID:765091006 semapv:UnspecifiedMatching MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:exactMatch UMLS:C4759870 semapv:UnspecifiedMatching MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:exactMatch mesh:C537313 semapv:UnspecifiedMatching MONDO:0011802 hypercalciuria, absorptive, 1 skos:exactMatch OMIM:607258 hypercalciuria, absorptive, 1 semapv:UnspecifiedMatching MONDO:0011802 hypercalciuria, absorptive, 1 skos:exactMatch UMLS:C1846573 semapv:UnspecifiedMatching MONDO:0011802 hypercalciuria, absorptive, 1 skos:exactMatch mesh:C564600 semapv:UnspecifiedMatching MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch DOID:0110816 hereditary spastic paraplegia 7 semapv:UnspecifiedMatching MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch OMIM:607259 spastic paraplegia 7, autosomal recessive semapv:UnspecifiedMatching MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch Orphanet:99013 Spastic paraplegia type 7 semapv:UnspecifiedMatching MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch SCTID:715776003 semapv:UnspecifiedMatching MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch UMLS:C1846564 semapv:UnspecifiedMatching MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch mesh:C564599 semapv:UnspecifiedMatching MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch DOID:0110116 autoimmune lymphoproliferative syndrome type 2B semapv:UnspecifiedMatching MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch OMIM:607271 caspase 8 deficiency semapv:UnspecifiedMatching MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:UnspecifiedMatching MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch SCTID:722290008 semapv:UnspecifiedMatching MONDO:0011805 asthma-related traits, susceptibility to, 1 skos:exactMatch OMIM:607277 asthma-related traits, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011805 asthma-related traits, susceptibility to, 1 skos:exactMatch UMLS:C1846534 semapv:UnspecifiedMatching MONDO:0011806 osteofibrous dysplasia skos:exactMatch NCIT:C53970 Osteofibrous Dysplasia semapv:UnspecifiedMatching MONDO:0011806 osteofibrous dysplasia skos:exactMatch OMIM:607278 osteofibrous dysplasia, susceptibility to semapv:UnspecifiedMatching MONDO:0011806 osteofibrous dysplasia skos:exactMatch Orphanet:488265 Osteofibrous dysplasia semapv:UnspecifiedMatching MONDO:0011806 osteofibrous dysplasia skos:exactMatch UMLS:C4085248 semapv:UnspecifiedMatching MONDO:0011806 osteofibrous dysplasia skos:exactMatch mesh:C563276 semapv:UnspecifiedMatching MONDO:0011806 osteofibrous dysplasia skos:exactMatch mesh:C563787 semapv:UnspecifiedMatching MONDO:0011807 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 skos:exactMatch OMIM:607279 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011808 cataract 27 skos:exactMatch DOID:0110233 cataract 27 semapv:UnspecifiedMatching MONDO:0011808 cataract 27 skos:exactMatch OMIM:607304 cataract 27 semapv:UnspecifiedMatching MONDO:0011808 cataract 27 skos:exactMatch UMLS:C1846520 semapv:UnspecifiedMatching MONDO:0011808 cataract 27 skos:exactMatch mesh:C564596 semapv:UnspecifiedMatching MONDO:0011809 obsolete mammographic density skos:exactMatch OMIM:607308 mammographic density semapv:UnspecifiedMatching MONDO:0011809 obsolete mammographic density skos:exactMatch mesh:C564595 semapv:UnspecifiedMatching MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:exactMatch OMIMPS:607313 semapv:UnspecifiedMatching MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:exactMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:UnspecifiedMatching MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:exactMatch SCTID:702381007 semapv:UnspecifiedMatching MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:exactMatch UMLS:C4760875 semapv:UnspecifiedMatching MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:exactMatch mesh:C564593 semapv:UnspecifiedMatching MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:exactMatch DOID:0111611 autosomal recessive spinocerebellar ataxia 4 semapv:UnspecifiedMatching MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:exactMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:UnspecifiedMatching MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:exactMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:UnspecifiedMatching MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:exactMatch UMLS:C1846492 semapv:UnspecifiedMatching MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:exactMatch mesh:C537310 semapv:UnspecifiedMatching MONDO:0011812 Duane-radial ray syndrome skos:exactMatch DOID:0060747 Duane-radial ray syndrome semapv:UnspecifiedMatching MONDO:0011812 Duane-radial ray syndrome skos:exactMatch OMIM:607323 duane-radial ray syndrome semapv:UnspecifiedMatching MONDO:0011812 Duane-radial ray syndrome skos:exactMatch Orphanet:93293 Okihiro syndrome semapv:UnspecifiedMatching MONDO:0011812 Duane-radial ray syndrome skos:exactMatch Orphanet:959 Acro-renal-ocular syndrome semapv:UnspecifiedMatching MONDO:0011812 Duane-radial ray syndrome skos:exactMatch SCTID:699867001 semapv:UnspecifiedMatching MONDO:0011812 Duane-radial ray syndrome skos:exactMatch SCTID:720415006 semapv:UnspecifiedMatching MONDO:0011812 Duane-radial ray syndrome skos:exactMatch UMLS:C1623209 semapv:UnspecifiedMatching MONDO:0011813 polydactyly, postaxial, type A3 skos:exactMatch OMIM:607324 polydactyly, postaxial, iia a3 semapv:UnspecifiedMatching MONDO:0011813 polydactyly, postaxial, type A3 skos:exactMatch UMLS:C1846452 semapv:UnspecifiedMatching MONDO:0011813 polydactyly, postaxial, type A3 skos:exactMatch mesh:C564590 semapv:UnspecifiedMatching MONDO:0011814 Smith-McCort dysplasia 1 skos:exactMatch DOID:0081270 Smith-McCort dysplasia 1 semapv:UnspecifiedMatching MONDO:0011814 Smith-McCort dysplasia 1 skos:exactMatch OMIM:607326 smith-mccort dysplasia 1 semapv:UnspecifiedMatching MONDO:0011814 Smith-McCort dysplasia 1 skos:exactMatch UMLS:C3888088 semapv:UnspecifiedMatching MONDO:0011815 hypertension, essential, susceptibility to, 3 skos:exactMatch OMIM:607329 hypertension, essential, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0011815 hypertension, essential, susceptibility to, 3 skos:exactMatch UMLS:C1846430 semapv:UnspecifiedMatching MONDO:0011816 lathosterolosis skos:exactMatch OMIM:607330 lathosterolosis semapv:UnspecifiedMatching MONDO:0011816 lathosterolosis skos:exactMatch Orphanet:46059 Lathosterolosis semapv:UnspecifiedMatching MONDO:0011816 lathosterolosis skos:exactMatch SCTID:719257008 semapv:UnspecifiedMatching MONDO:0011816 lathosterolosis skos:exactMatch UMLS:C1846421 semapv:UnspecifiedMatching MONDO:0011816 lathosterolosis skos:exactMatch mesh:C537880 semapv:UnspecifiedMatching MONDO:0011817 coronary heart disease, susceptibility to, 1 skos:exactMatch OMIM:607339 coronary heart disease, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011817 coronary heart disease, susceptibility to, 1 skos:exactMatch UMLS:C1846418 semapv:UnspecifiedMatching MONDO:0011818 isolated focal cortical dysplasia type II skos:exactMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:UnspecifiedMatching MONDO:0011818 isolated focal cortical dysplasia type II skos:exactMatch Orphanet:268994 Isolated focal cortical dysplasia type II semapv:UnspecifiedMatching MONDO:0011818 isolated focal cortical dysplasia type II skos:exactMatch mesh:C537067 semapv:UnspecifiedMatching MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch DOID:0050970 spinocerebellar ataxia type 19/22 semapv:UnspecifiedMatching MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch NCIT:C163756 Spinocerebellar Ataxia Type 19/22 semapv:UnspecifiedMatching MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch OMIM:607346 spinocerebellar ataxia 19 semapv:UnspecifiedMatching MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:UnspecifiedMatching MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch SCTID:719251009 semapv:UnspecifiedMatching MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch mesh:C537198 semapv:UnspecifiedMatching MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch mesh:C542540 semapv:UnspecifiedMatching MONDO:0011820 scoliosis, isolated, susceptibility to, 2 skos:exactMatch OMIM:607354 scoliosis, isolated, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011821 Meckel syndrome, type 3 skos:exactMatch DOID:0070117 Meckel syndrome 3 semapv:UnspecifiedMatching MONDO:0011821 Meckel syndrome, type 3 skos:exactMatch OMIM:607361 meckel syndrome, iia 3 semapv:UnspecifiedMatching MONDO:0011821 Meckel syndrome, type 3 skos:exactMatch UMLS:C1846357 semapv:UnspecifiedMatching MONDO:0011821 Meckel syndrome, type 3 skos:exactMatch mesh:C536132 semapv:UnspecifiedMatching MONDO:0011822 Bartter disease type 3 skos:exactMatch DOID:0110144 Bartter disease type 3 semapv:UnspecifiedMatching MONDO:0011822 Bartter disease type 3 skos:exactMatch OMIM:607364 bartter syndrome, iia 3 semapv:UnspecifiedMatching MONDO:0011822 Bartter disease type 3 skos:exactMatch Orphanet:93605 Bartter syndrome type 3 semapv:UnspecifiedMatching MONDO:0011822 Bartter disease type 3 skos:exactMatch SCTID:700111000 semapv:UnspecifiedMatching MONDO:0011822 Bartter disease type 3 skos:exactMatch UMLS:C1846343 semapv:UnspecifiedMatching MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:exactMatch OMIM:607371 dystonia-deafness syndrome 1 semapv:UnspecifiedMatching MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:exactMatch Orphanet:79107 Developmental malformations-deafness-dystonia syndrome semapv:UnspecifiedMatching MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:exactMatch UMLS:C1846331 semapv:UnspecifiedMatching MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:exactMatch mesh:C537704 semapv:UnspecifiedMatching MONDO:0011824 autism, susceptibility to, 8 skos:exactMatch OMIM:607373 autism, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0011825 streptococcus, group A, severity of infection by skos:exactMatch OMIM:607395 streptococcus, group a, severity of infection by semapv:UnspecifiedMatching MONDO:0011826 glucocorticoid deficiency 2 skos:exactMatch NCIT:C123728 Familial Glucocorticoid Deficiency Type 2 semapv:UnspecifiedMatching MONDO:0011826 glucocorticoid deficiency 2 skos:exactMatch OMIM:607398 glucocorticoid deficiency 2 semapv:UnspecifiedMatching MONDO:0011826 glucocorticoid deficiency 2 skos:exactMatch mesh:C564577 semapv:UnspecifiedMatching MONDO:0011827 patent ductus arteriosus skos:exactMatch DOID:13832 patent ductus arteriosus semapv:UnspecifiedMatching MONDO:0011827 patent ductus arteriosus skos:exactMatch ICD10CM:Q25.0 Patent ductus arteriosus semapv:UnspecifiedMatching MONDO:0011827 patent ductus arteriosus skos:exactMatch NCIT:C84492 Patent Ductus Arteriosus semapv:UnspecifiedMatching MONDO:0011827 patent ductus arteriosus skos:exactMatch OMIMPS:607411 semapv:UnspecifiedMatching MONDO:0011827 patent ductus arteriosus skos:exactMatch SCTID:83330001 semapv:UnspecifiedMatching MONDO:0011827 patent ductus arteriosus skos:exactMatch mesh:D004374 semapv:UnspecifiedMatching MONDO:0011828 intellectual disability, autosomal recessive 2 skos:exactMatch DOID:0081178 autosomal recessive intellectual developmental disorder 2 semapv:UnspecifiedMatching MONDO:0011828 intellectual disability, autosomal recessive 2 skos:exactMatch OMIM:607417 intellectual developmental disorder, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0011828 intellectual disability, autosomal recessive 2 skos:exactMatch UMLS:C1843942 semapv:UnspecifiedMatching MONDO:0011828 intellectual disability, autosomal recessive 2 skos:exactMatch mesh:C564404 semapv:UnspecifiedMatching MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:exactMatch DOID:0070238 primary coenzyme Q10 deficiency 1 semapv:UnspecifiedMatching MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:exactMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:UnspecifiedMatching MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:exactMatch UMLS:C3551954 semapv:UnspecifiedMatching MONDO:0011830 lissencephaly due to LIS1 mutation skos:exactMatch DOID:0112237 lissencephaly 1 semapv:UnspecifiedMatching MONDO:0011830 lissencephaly due to LIS1 mutation skos:exactMatch OMIM:607432 lissencephaly 1 semapv:UnspecifiedMatching MONDO:0011830 lissencephaly due to LIS1 mutation skos:exactMatch Orphanet:95232 Lissencephaly due to LIS1 mutation semapv:UnspecifiedMatching MONDO:0011830 lissencephaly due to LIS1 mutation skos:exactMatch UMLS:C4749301 semapv:UnspecifiedMatching MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:exactMatch DOID:0110076 arrhythmogenic right ventricular dysplasia 8 semapv:UnspecifiedMatching MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:exactMatch OMIM:607450 arrhythmogenic right ventricular dysplasia, familial, 8 semapv:UnspecifiedMatching MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:exactMatch UMLS:C1843896 semapv:UnspecifiedMatching MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:exactMatch mesh:C564400 semapv:UnspecifiedMatching MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:exactMatch DOID:0110569 autosomal dominant nonsyndromic deafness 44 semapv:UnspecifiedMatching MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:exactMatch OMIM:607453 deafness, autosomal dominant 44 semapv:UnspecifiedMatching MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:exactMatch UMLS:C1843895 semapv:UnspecifiedMatching MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:exactMatch mesh:C564399 semapv:UnspecifiedMatching MONDO:0011833 spinocerebellar ataxia type 21 skos:exactMatch DOID:0050972 spinocerebellar ataxia type 21 semapv:UnspecifiedMatching MONDO:0011833 spinocerebellar ataxia type 21 skos:exactMatch OMIM:607454 spinocerebellar ataxia 21 semapv:UnspecifiedMatching MONDO:0011833 spinocerebellar ataxia type 21 skos:exactMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:UnspecifiedMatching MONDO:0011833 spinocerebellar ataxia type 21 skos:exactMatch SCTID:718774001 semapv:UnspecifiedMatching MONDO:0011833 spinocerebellar ataxia type 21 skos:exactMatch UMLS:C1843891 semapv:UnspecifiedMatching MONDO:0011833 spinocerebellar ataxia type 21 skos:exactMatch mesh:C537200 semapv:UnspecifiedMatching MONDO:0011834 spinocerebellar ataxia type 18 skos:exactMatch DOID:0050969 spinocerebellar ataxia type 18 semapv:UnspecifiedMatching MONDO:0011834 spinocerebellar ataxia type 18 skos:exactMatch OMIM:607458 spinocerebellar ataxia 18 semapv:UnspecifiedMatching MONDO:0011834 spinocerebellar ataxia type 18 skos:exactMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:UnspecifiedMatching MONDO:0011834 spinocerebellar ataxia type 18 skos:exactMatch SCTID:719250005 semapv:UnspecifiedMatching MONDO:0011834 spinocerebellar ataxia type 18 skos:exactMatch UMLS:C1843884 semapv:UnspecifiedMatching MONDO:0011834 spinocerebellar ataxia type 18 skos:exactMatch mesh:C537197 semapv:UnspecifiedMatching MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:UnspecifiedMatching MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:UnspecifiedMatching MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch Orphanet:402082 Progressive myoclonic epilepsy type 5 semapv:UnspecifiedMatching MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:UnspecifiedMatching MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch UMLS:C1843851 semapv:UnspecifiedMatching MONDO:0011836 thyroid Hurthle cell carcinoma skos:exactMatch DOID:8161 thyroid gland Hurthle cell carcinoma semapv:UnspecifiedMatching MONDO:0011836 thyroid Hurthle cell carcinoma skos:exactMatch OMIM:607464 thyroid carcinoma, hurthle cell semapv:UnspecifiedMatching MONDO:0011836 thyroid Hurthle cell carcinoma skos:exactMatch SCTID:423158009 semapv:UnspecifiedMatching MONDO:0011836 thyroid Hurthle cell carcinoma skos:exactMatch mesh:C536913 semapv:UnspecifiedMatching MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:exactMatch DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 semapv:UnspecifiedMatching MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:exactMatch OMIM:607473 vitamin k-dependent clotting factors, combined deficiency of, 2 semapv:UnspecifiedMatching MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:exactMatch UMLS:C1843832 semapv:UnspecifiedMatching MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:exactMatch mesh:C564393 semapv:UnspecifiedMatching MONDO:0011838 Bothnia retinal dystrophy skos:exactMatch DOID:0050683 Bothnia retinal dystrophy semapv:UnspecifiedMatching MONDO:0011838 Bothnia retinal dystrophy skos:exactMatch OMIM:607475 bothnia retinal dystrophy semapv:UnspecifiedMatching MONDO:0011838 Bothnia retinal dystrophy skos:exactMatch Orphanet:85128 Bothnia retinal dystrophy semapv:UnspecifiedMatching MONDO:0011838 Bothnia retinal dystrophy skos:exactMatch SCTID:715647007 semapv:UnspecifiedMatching MONDO:0011838 Bothnia retinal dystrophy skos:exactMatch UMLS:C1843816 semapv:UnspecifiedMatching MONDO:0011838 Bothnia retinal dystrophy skos:exactMatch mesh:C564392 semapv:UnspecifiedMatching MONDO:0011839 Newfoundland cone-rod dystrophy skos:exactMatch DOID:0111015 Newfoundland cone-rod dystrophy semapv:UnspecifiedMatching MONDO:0011839 Newfoundland cone-rod dystrophy skos:exactMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:UnspecifiedMatching MONDO:0011839 Newfoundland cone-rod dystrophy skos:exactMatch UMLS:C1843815 semapv:UnspecifiedMatching MONDO:0011839 Newfoundland cone-rod dystrophy skos:exactMatch mesh:C564391 semapv:UnspecifiedMatching MONDO:0011840 dilated cardiomyopathy 1M skos:exactMatch DOID:0110449 dilated cardiomyopathy 1M semapv:UnspecifiedMatching MONDO:0011840 dilated cardiomyopathy 1M skos:exactMatch OMIM:607482 cardiomyopathy, dilated, 1m semapv:UnspecifiedMatching MONDO:0011840 dilated cardiomyopathy 1M skos:exactMatch UMLS:C1843808 semapv:UnspecifiedMatching MONDO:0011840 dilated cardiomyopathy 1M skos:exactMatch mesh:C564390 semapv:UnspecifiedMatching MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch DOID:0050659 biotin-responsive basal ganglia disease semapv:UnspecifiedMatching MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:UnspecifiedMatching MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch Orphanet:199348 Thiamine-responsive encephalopathy semapv:UnspecifiedMatching MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:UnspecifiedMatching MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch SCTID:703522009 semapv:UnspecifiedMatching MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch SCTID:723557004 semapv:UnspecifiedMatching MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch UMLS:C1843807 semapv:UnspecifiedMatching MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch mesh:C537658 semapv:UnspecifiedMatching MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:exactMatch DOID:0060672 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions semapv:UnspecifiedMatching MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:exactMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:UnspecifiedMatching MONDO:0011843 hypertrophic cardiomyopathy 25 skos:exactMatch DOID:0110328 hypertrophic cardiomyopathy 25 semapv:UnspecifiedMatching MONDO:0011843 hypertrophic cardiomyopathy 25 skos:exactMatch OMIM:607487 cardiomyopathy, familial hypertrophic, 25 semapv:UnspecifiedMatching MONDO:0011843 hypertrophic cardiomyopathy 25 skos:exactMatch UMLS:C4225408 semapv:UnspecifiedMatching MONDO:0011843 hypertrophic cardiomyopathy 25 skos:exactMatch mesh:C564388 semapv:UnspecifiedMatching MONDO:0011844 myoclonic dystonia 15 skos:exactMatch DOID:0090035 myoclonic dystonia 15 semapv:UnspecifiedMatching MONDO:0011844 myoclonic dystonia 15 skos:exactMatch OMIM:607488 dystonia 15, myoclonic semapv:UnspecifiedMatching MONDO:0011844 myoclonic dystonia 15 skos:exactMatch UMLS:C1843786 semapv:UnspecifiedMatching MONDO:0011844 myoclonic dystonia 15 skos:exactMatch mesh:C538002 semapv:UnspecifiedMatching MONDO:0011845 migraine with or without aura, susceptibility to, 3 skos:exactMatch OMIM:607498 migraine with or without aura, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0011846 bulimia nervosa, susceptibility to, 1 skos:exactMatch OMIM:607499 bulimia nervosa, susceptibility to semapv:UnspecifiedMatching MONDO:0011846 bulimia nervosa, susceptibility to, 1 skos:exactMatch UMLS:C1843776 semapv:UnspecifiedMatching MONDO:0011847 migraine without aura, susceptibility to, 4 skos:exactMatch OMIM:607501 migraine without aura, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0011848 headache associated with sexual activity skos:exactMatch ICD10CM:G44.82 Headache associated with sexual activity semapv:UnspecifiedMatching MONDO:0011848 headache associated with sexual activity skos:exactMatch OMIM:607504 headache associated with sexual activity semapv:UnspecifiedMatching MONDO:0011849 psoriatic arthritis skos:exactMatch DOID:9008 psoriatic arthritis semapv:UnspecifiedMatching MONDO:0011849 psoriatic arthritis skos:exactMatch NCIT:C61277 Psoriatic Arthritis semapv:UnspecifiedMatching MONDO:0011849 psoriatic arthritis skos:exactMatch SCTID:156370009 semapv:UnspecifiedMatching MONDO:0011849 psoriatic arthritis skos:exactMatch UMLS:C0003872 semapv:UnspecifiedMatching MONDO:0011849 psoriatic arthritis skos:exactMatch mesh:D015535 semapv:UnspecifiedMatching MONDO:0011850 migraine with or without aura, susceptibility to, 5 skos:exactMatch OMIM:607508 migraine with or without aura, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:exactMatch OMIM:607516 migraine with or without aura, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:exactMatch mesh:C564385 semapv:UnspecifiedMatching MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:exactMatch DOID:0080086 nonsyndromic congenital nail disorder 8 semapv:UnspecifiedMatching MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:exactMatch OMIM:607523 nail disorder, nonsyndromic congenital, 8 semapv:UnspecifiedMatching MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:exactMatch UMLS:C1843761 semapv:UnspecifiedMatching MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:exactMatch mesh:C564384 semapv:UnspecifiedMatching MONDO:0011853 Camptosynpolydactyly, complex skos:exactMatch OMIM:607539 camptosynpolydactyly, complex semapv:UnspecifiedMatching MONDO:0011853 Camptosynpolydactyly, complex skos:exactMatch UMLS:C1843758 semapv:UnspecifiedMatching MONDO:0011853 Camptosynpolydactyly, complex skos:exactMatch mesh:C564383 semapv:UnspecifiedMatching MONDO:0011854 secretory diarrhea, myopathy, and deafness skos:exactMatch OMIM:607540 secretory diarrhea, myopathy, and deafness semapv:UnspecifiedMatching MONDO:0011854 secretory diarrhea, myopathy, and deafness skos:exactMatch UMLS:C1843757 semapv:UnspecifiedMatching MONDO:0011854 secretory diarrhea, myopathy, and deafness skos:exactMatch mesh:C564382 semapv:UnspecifiedMatching MONDO:0011855 granular corneal dystrophy type II skos:exactMatch DOID:0060444 granular corneal dystrophy 2 semapv:UnspecifiedMatching MONDO:0011855 granular corneal dystrophy type II skos:exactMatch OMIM:607541 corneal dystrophy, avellino iia semapv:UnspecifiedMatching MONDO:0011855 granular corneal dystrophy type II skos:exactMatch Orphanet:98963 Granular corneal dystrophy type II semapv:UnspecifiedMatching MONDO:0011855 granular corneal dystrophy type II skos:exactMatch SCTID:397568004 semapv:UnspecifiedMatching MONDO:0011855 granular corneal dystrophy type II skos:exactMatch UMLS:C1275685 semapv:UnspecifiedMatching MONDO:0011855 granular corneal dystrophy type II skos:exactMatch mesh:C535474 semapv:UnspecifiedMatching MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:UnspecifiedMatching MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:UnspecifiedMatching MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:UnspecifiedMatching MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch UMLS:C1843706 semapv:UnspecifiedMatching MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch mesh:C535791 semapv:UnspecifiedMatching MONDO:0011857 atrial fibrillation, familial, 3 skos:exactMatch OMIM:607554 atrial fibrillation, familial, 3 semapv:UnspecifiedMatching MONDO:0011857 atrial fibrillation, familial, 3 skos:exactMatch UMLS:C1837014 semapv:UnspecifiedMatching MONDO:0011857 atrial fibrillation, familial, 3 skos:exactMatch mesh:C563817 semapv:UnspecifiedMatching MONDO:0011858 spastic paraplegia, ataxia, and intellectual disability skos:exactMatch OMIM:607565 spastic paraplegia, ataxia, and mental retardation semapv:UnspecifiedMatching MONDO:0011858 spastic paraplegia, ataxia, and intellectual disability skos:exactMatch UMLS:C1843661 semapv:UnspecifiedMatching MONDO:0011858 spastic paraplegia, ataxia, and intellectual disability skos:exactMatch mesh:C564378 semapv:UnspecifiedMatching MONDO:0011860 leprosy, susceptibility to, 2 skos:exactMatch OMIM:607572 leprosy, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011860 leprosy, susceptibility to, 2 skos:exactMatch UMLS:C1843632 semapv:UnspecifiedMatching MONDO:0011861 breath-holding Spells skos:exactMatch OMIM:607578 breath-holding spells semapv:UnspecifiedMatching MONDO:0011862 hereditary spastic paraplegia 24 skos:exactMatch DOID:0110775 hereditary spastic paraplegia 24 semapv:UnspecifiedMatching MONDO:0011862 hereditary spastic paraplegia 24 skos:exactMatch OMIM:607584 spastic paraplegia 24, autosomal recessive semapv:UnspecifiedMatching MONDO:0011862 hereditary spastic paraplegia 24 skos:exactMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:UnspecifiedMatching MONDO:0011862 hereditary spastic paraplegia 24 skos:exactMatch UMLS:C1843569 semapv:UnspecifiedMatching MONDO:0011862 hereditary spastic paraplegia 24 skos:exactMatch mesh:C564375 semapv:UnspecifiedMatching MONDO:0011863 prostate cancer aggressiveness quantitative trait locus on chromosome 19 skos:exactMatch OMIM:607592 prostate cancer aggressiveness quantitative trait locus on chromosome 19 semapv:UnspecifiedMatching MONDO:0011864 immunodeficiency, common variable, 1 skos:exactMatch DOID:0081144 common variable immunodeficiency 1 semapv:UnspecifiedMatching MONDO:0011864 immunodeficiency, common variable, 1 skos:exactMatch OMIM:607594 immunodeficiency, common variable, 1 semapv:UnspecifiedMatching MONDO:0011864 immunodeficiency, common variable, 1 skos:exactMatch UMLS:C3149378 semapv:UnspecifiedMatching MONDO:0011866 pontocerebellar hypoplasia type 1A skos:exactMatch DOID:0060265 pontocerebellar hypoplasia type 1A semapv:UnspecifiedMatching MONDO:0011866 pontocerebellar hypoplasia type 1A skos:exactMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:UnspecifiedMatching MONDO:0011866 pontocerebellar hypoplasia type 1A skos:exactMatch UMLS:C1843504 semapv:UnspecifiedMatching MONDO:0011867 microphthalmia with cyst, bilateral facial clefts, and limb anomalies skos:exactMatch OMIM:607597 microphthalmia with cyst, bilateral facial clefts, and limb anomalies semapv:UnspecifiedMatching MONDO:0011867 microphthalmia with cyst, bilateral facial clefts, and limb anomalies skos:exactMatch UMLS:C1843492 semapv:UnspecifiedMatching MONDO:0011867 microphthalmia with cyst, bilateral facial clefts, and limb anomalies skos:exactMatch mesh:C564370 semapv:UnspecifiedMatching MONDO:0011868 lethal congenital contracture syndrome 2 skos:exactMatch DOID:0060560 lethal congenital contracture syndrome 2 semapv:UnspecifiedMatching MONDO:0011868 lethal congenital contracture syndrome 2 skos:exactMatch OMIM:607598 lethal congenital contracture syndrome 2 semapv:UnspecifiedMatching MONDO:0011868 lethal congenital contracture syndrome 2 skos:exactMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:UnspecifiedMatching MONDO:0011868 lethal congenital contracture syndrome 2 skos:exactMatch SCTID:715419004 semapv:UnspecifiedMatching MONDO:0011868 lethal congenital contracture syndrome 2 skos:exactMatch UMLS:C1843478 semapv:UnspecifiedMatching MONDO:0011868 lethal congenital contracture syndrome 2 skos:exactMatch mesh:C564369 semapv:UnspecifiedMatching MONDO:0011869 epidermolysis bullosa simplex superficialis skos:exactMatch OMIM:607600 epidermolysis bullosa simplex superficialis semapv:UnspecifiedMatching MONDO:0011869 epidermolysis bullosa simplex superficialis skos:exactMatch UMLS:C1843477 semapv:UnspecifiedMatching MONDO:0011869 epidermolysis bullosa simplex superficialis skos:exactMatch mesh:C564368 semapv:UnspecifiedMatching MONDO:0011870 annular epidermolytic ichthyosis skos:exactMatch OMIMPS:607602 semapv:UnspecifiedMatching MONDO:0011870 annular epidermolytic ichthyosis skos:exactMatch Orphanet:281139 Annular epidermolytic ichthyosis semapv:UnspecifiedMatching MONDO:0011870 annular epidermolytic ichthyosis skos:exactMatch SCTID:718631006 semapv:UnspecifiedMatching MONDO:0011870 annular epidermolytic ichthyosis skos:exactMatch UMLS:C1843463 semapv:UnspecifiedMatching MONDO:0011870 annular epidermolytic ichthyosis skos:exactMatch mesh:C564367 semapv:UnspecifiedMatching MONDO:0011871 Niemann-Pick disease type B skos:exactMatch DOID:0070112 Niemann-Pick disease type B semapv:UnspecifiedMatching MONDO:0011871 Niemann-Pick disease type B skos:exactMatch ICD10CM:E75.241 Niemann-Pick disease type B semapv:UnspecifiedMatching MONDO:0011871 Niemann-Pick disease type B skos:exactMatch NCIT:C126866 Niemann-Pick Disease, Type B semapv:UnspecifiedMatching MONDO:0011871 Niemann-Pick disease type B skos:exactMatch OMIM:607616 niemann-pick disease, iia B semapv:UnspecifiedMatching MONDO:0011871 Niemann-Pick disease type B skos:exactMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:UnspecifiedMatching MONDO:0011871 Niemann-Pick disease type B skos:exactMatch SCTID:39390005 semapv:UnspecifiedMatching MONDO:0011871 Niemann-Pick disease type B skos:exactMatch UMLS:C0268243 semapv:UnspecifiedMatching MONDO:0011871 Niemann-Pick disease type B skos:exactMatch mesh:D052537 semapv:UnspecifiedMatching MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch DOID:0060833 Griscelli syndrome type 2 semapv:UnspecifiedMatching MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch NCIT:C111814 Griscelli Syndrome Type 2 semapv:UnspecifiedMatching MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch OMIM:607624 griscelli syndrome, iia 2 semapv:UnspecifiedMatching MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch Orphanet:79477 Griscelli syndrome type 2 semapv:UnspecifiedMatching MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch UMLS:C1868679 semapv:UnspecifiedMatching MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch mesh:C537302 semapv:UnspecifiedMatching MONDO:0011873 Niemann-Pick disease, type C2 skos:exactMatch DOID:0070114 Niemann-Pick disease type C2 semapv:UnspecifiedMatching MONDO:0011873 Niemann-Pick disease, type C2 skos:exactMatch NCIT:C126865 Niemann-Pick Disease, Type C2 semapv:UnspecifiedMatching MONDO:0011873 Niemann-Pick disease, type C2 skos:exactMatch OMIM:607625 niemann-pick disease, iia c2 semapv:UnspecifiedMatching MONDO:0011873 Niemann-Pick disease, type C2 skos:exactMatch UMLS:C1843366 semapv:UnspecifiedMatching MONDO:0011873 Niemann-Pick disease, type C2 skos:exactMatch mesh:C536119 semapv:UnspecifiedMatching MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:exactMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:UnspecifiedMatching MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:exactMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:UnspecifiedMatching MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:exactMatch SCTID:724278007 semapv:UnspecifiedMatching MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:exactMatch UMLS:C1843355 semapv:UnspecifiedMatching MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:exactMatch mesh:C564365 semapv:UnspecifiedMatching MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:exactMatch DOID:0111312 idiopathic generalized epilepsy 11 semapv:UnspecifiedMatching MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:exactMatch OMIM:607628 epilepsy, idiopathic generalized, susceptibility to, 11 semapv:UnspecifiedMatching MONDO:0011876 juvenile absence epilepsy skos:exactMatch DOID:0060172 juvenile absence epilepsy semapv:UnspecifiedMatching MONDO:0011876 juvenile absence epilepsy skos:exactMatch NCIT:C129868 Juvenile Absence Epilepsy semapv:UnspecifiedMatching MONDO:0011876 juvenile absence epilepsy skos:exactMatch OMIMPS:607631 semapv:UnspecifiedMatching MONDO:0011876 juvenile absence epilepsy skos:exactMatch Orphanet:1941 Juvenile absence epilepsy semapv:UnspecifiedMatching MONDO:0011876 juvenile absence epilepsy skos:exactMatch SCTID:230413002 semapv:UnspecifiedMatching MONDO:0011876 juvenile absence epilepsy skos:exactMatch UMLS:C4317339 semapv:UnspecifiedMatching MONDO:0011877 autosomal dominant osteopetrosis 1 skos:exactMatch DOID:0110937 autosomal dominant osteopetrosis 1 semapv:UnspecifiedMatching MONDO:0011877 autosomal dominant osteopetrosis 1 skos:exactMatch OMIM:607634 osteopetrosis, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0011877 autosomal dominant osteopetrosis 1 skos:exactMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:UnspecifiedMatching MONDO:0011877 autosomal dominant osteopetrosis 1 skos:exactMatch UMLS:C1843330 semapv:UnspecifiedMatching MONDO:0011877 autosomal dominant osteopetrosis 1 skos:exactMatch mesh:C536056 semapv:UnspecifiedMatching MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:exactMatch DOID:0111202 distal hereditary motor neuronopathy type 7B semapv:UnspecifiedMatching MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:exactMatch OMIM:607641 neuronopathy, distal hereditary motor, autosomal dominant 14 semapv:UnspecifiedMatching MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:exactMatch UMLS:C1843315 semapv:UnspecifiedMatching MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:exactMatch mesh:C564362 semapv:UnspecifiedMatching MONDO:0011880 candidiasis, familial, 3 skos:exactMatch OMIM:607644 candidiasis, familial, 3 semapv:UnspecifiedMatching MONDO:0011880 candidiasis, familial, 3 skos:exactMatch UMLS:C1843306 semapv:UnspecifiedMatching MONDO:0011880 candidiasis, familial, 3 skos:exactMatch mesh:C564361 semapv:UnspecifiedMatching MONDO:0011881 keratosis palmoplantaris striata 3 skos:exactMatch DOID:0081110 keratosis palmoplantaris striata 3 semapv:UnspecifiedMatching MONDO:0011881 keratosis palmoplantaris striata 3 skos:exactMatch OMIM:607654 keratosis palmoplantaris striata 3 semapv:UnspecifiedMatching MONDO:0011881 keratosis palmoplantaris striata 3 skos:exactMatch UMLS:C2931123 semapv:UnspecifiedMatching MONDO:0011881 keratosis palmoplantaris striata 3 skos:exactMatch mesh:C536163 semapv:UnspecifiedMatching MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome semapv:UnspecifiedMatching MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:exactMatch UMLS:C1843292 semapv:UnspecifiedMatching MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:exactMatch mesh:C564359 semapv:UnspecifiedMatching MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:exactMatch OMIM:607656 curly hair-acral keratoderma-caries syndrome semapv:UnspecifiedMatching MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:exactMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:UnspecifiedMatching MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:exactMatch mesh:C536220 semapv:UnspecifiedMatching MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:exactMatch OMIM:607658 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:UnspecifiedMatching MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:UnspecifiedMatching MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:exactMatch SCTID:763658004 semapv:UnspecifiedMatching MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:exactMatch UMLS:C1843285 semapv:UnspecifiedMatching MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:exactMatch mesh:C564357 semapv:UnspecifiedMatching MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:exactMatch NCIT:C123021 Tubulointerstitial Nephritis and Uveitis semapv:UnspecifiedMatching MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:exactMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:UnspecifiedMatching MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:exactMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:UnspecifiedMatching MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:exactMatch UMLS:C1843273 semapv:UnspecifiedMatching MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:exactMatch mesh:C536922 semapv:UnspecifiedMatching MONDO:0011886 torsion dystonia 13 skos:exactMatch DOID:0090037 torsion dystonia 13 semapv:UnspecifiedMatching MONDO:0011886 torsion dystonia 13 skos:exactMatch OMIM:607671 dystonia 13, torsion, autosomal dominant semapv:UnspecifiedMatching MONDO:0011886 torsion dystonia 13 skos:exactMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:UnspecifiedMatching MONDO:0011886 torsion dystonia 13 skos:exactMatch SCTID:719278006 semapv:UnspecifiedMatching MONDO:0011886 torsion dystonia 13 skos:exactMatch mesh:C564354 semapv:UnspecifiedMatching MONDO:0011887 cataract, congenital, with mental impairment and dentate gyrus atrophy skos:exactMatch OMIM:607674 cataract, congenital, with mental impairment and dentate gyrus atrophy semapv:UnspecifiedMatching MONDO:0011887 cataract, congenital, with mental impairment and dentate gyrus atrophy skos:exactMatch UMLS:C1843257 semapv:UnspecifiedMatching MONDO:0011887 cataract, congenital, with mental impairment and dentate gyrus atrophy skos:exactMatch mesh:C564353 semapv:UnspecifiedMatching MONDO:0011888 immunodeficiency 67 skos:exactMatch OMIM:607676 immunodeficiency 67 semapv:UnspecifiedMatching MONDO:0011888 immunodeficiency 67 skos:exactMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:UnspecifiedMatching MONDO:0011888 immunodeficiency 67 skos:exactMatch UMLS:C1843256 semapv:UnspecifiedMatching MONDO:0011888 immunodeficiency 67 skos:exactMatch mesh:C564352 semapv:UnspecifiedMatching MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:exactMatch DOID:0110158 Charcot-Marie-Tooth disease type 2I semapv:UnspecifiedMatching MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:exactMatch OMIM:607677 charcot-marie-tooth disease, axonal, iia 2i semapv:UnspecifiedMatching MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:exactMatch Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I semapv:UnspecifiedMatching MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:exactMatch SCTID:717013009 semapv:UnspecifiedMatching MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:exactMatch UMLS:C3888087 semapv:UnspecifiedMatching MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:exactMatch DOID:0110150 Charcot-Marie-Tooth disease type 1D semapv:UnspecifiedMatching MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:exactMatch OMIM:607678 charcot-marie-tooth disease, demyelinating, iia 1d semapv:UnspecifiedMatching MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:exactMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:UnspecifiedMatching MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:exactMatch SCTID:719979008 semapv:UnspecifiedMatching MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:exactMatch UMLS:C1843247 semapv:UnspecifiedMatching MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:exactMatch mesh:C537985 semapv:UnspecifiedMatching MONDO:0011891 febrile seizures, familial, 8 skos:exactMatch DOID:0111298 familial febrile seizures 8 semapv:UnspecifiedMatching MONDO:0011891 febrile seizures, familial, 8 skos:exactMatch OMIM:607681 febrile seizures, familial, 8 semapv:UnspecifiedMatching MONDO:0011891 febrile seizures, familial, 8 skos:exactMatch UMLS:C1969810 semapv:UnspecifiedMatching MONDO:0011891 febrile seizures, familial, 8 skos:exactMatch mesh:C565811 semapv:UnspecifiedMatching MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 skos:exactMatch DOID:0111323 idiopathic generalized epilepsy 9 semapv:UnspecifiedMatching MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 skos:exactMatch OMIM:607682 epilepsy, idiopathic generalized, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:exactMatch DOID:0110578 autosomal dominant nonsyndromic deafness 52 semapv:UnspecifiedMatching MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:exactMatch OMIM:607683 deafness, autosomal dominant 52 semapv:UnspecifiedMatching MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:exactMatch UMLS:C1843232 semapv:UnspecifiedMatching MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:exactMatch mesh:C564348 semapv:UnspecifiedMatching MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:exactMatch DOID:0110165 Charcot-Marie-Tooth disease type 2E semapv:UnspecifiedMatching MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:exactMatch NCIT:C134953 Charcot-Marie-Tooth Disease Type 2E semapv:UnspecifiedMatching MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:exactMatch OMIM:607684 charcot-marie-tooth disease, axonal, iia 2e semapv:UnspecifiedMatching MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:exactMatch Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E semapv:UnspecifiedMatching MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:exactMatch SCTID:717012004 semapv:UnspecifiedMatching MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:exactMatch mesh:C537994 semapv:UnspecifiedMatching MONDO:0011895 idiopathic hypereosinophilic syndrome skos:exactMatch OMIM:607685 hypereosinophilic syndrome, idiopathic semapv:UnspecifiedMatching MONDO:0011895 idiopathic hypereosinophilic syndrome skos:exactMatch Orphanet:3260 Idiopathic hypereosinophilic syndrome semapv:UnspecifiedMatching MONDO:0011895 idiopathic hypereosinophilic syndrome skos:exactMatch SCTID:423294001 semapv:UnspecifiedMatching MONDO:0011895 idiopathic hypereosinophilic syndrome skos:exactMatch UMLS:C0206141 semapv:UnspecifiedMatching MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to skos:exactMatch OMIM:607688 parkinson disease 11, autosomal dominant, susceptibility to semapv:UnspecifiedMatching MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to skos:exactMatch UMLS:C4083045 semapv:UnspecifiedMatching MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to skos:exactMatch mesh:C564345 semapv:UnspecifiedMatching MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:exactMatch DOID:0060794 hypomyelinating leukodystrophy 7 semapv:UnspecifiedMatching MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:exactMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:exactMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:UnspecifiedMatching MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:exactMatch SCTID:721846006 semapv:UnspecifiedMatching MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:exactMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:UnspecifiedMatching MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:exactMatch UMLS:C1843183 semapv:UnspecifiedMatching MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch DOID:0080691 Noonan syndrome-like disorder with loose anagen hair semapv:UnspecifiedMatching MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch NCIT:C178129 Noonan Syndrome-Like Disorder with Loose Anagen Hair semapv:UnspecifiedMatching MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch OMIMPS:607721 semapv:UnspecifiedMatching MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:UnspecifiedMatching MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch SCTID:723444009 semapv:UnspecifiedMatching MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch UMLS:C1843181 semapv:UnspecifiedMatching MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch mesh:C564342 semapv:UnspecifiedMatching MONDO:0011900 porokeratosis 4, disseminated superficial actinic type skos:exactMatch OMIM:607728 porokeratosis 4, disseminated superficial actinic iia semapv:UnspecifiedMatching MONDO:0011900 porokeratosis 4, disseminated superficial actinic type skos:exactMatch UMLS:C1843180 semapv:UnspecifiedMatching MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch DOID:0110166 Charcot-Marie-Tooth disease axonal type 2H semapv:UnspecifiedMatching MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch OMIM:607731 charcot-marie-tooth disease, axonal, iia 2h semapv:UnspecifiedMatching MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:UnspecifiedMatching MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch SCTID:720637005 semapv:UnspecifiedMatching MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch UMLS:C1843173 semapv:UnspecifiedMatching MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch mesh:C535415 semapv:UnspecifiedMatching MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:exactMatch DOID:0110149 Charcot-Marie-Tooth disease type 1F semapv:UnspecifiedMatching MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:exactMatch OMIM:607734 charcot-marie-tooth disease, demyelinating, iia 1f semapv:UnspecifiedMatching MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:exactMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:UnspecifiedMatching MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:exactMatch SCTID:719980006 semapv:UnspecifiedMatching MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:exactMatch UMLS:C1843164 semapv:UnspecifiedMatching MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:exactMatch mesh:C537987 semapv:UnspecifiedMatching MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:exactMatch DOID:0110157 Charcot-Marie-Tooth disease type 2J semapv:UnspecifiedMatching MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:exactMatch OMIM:607736 charcot-marie-tooth disease, axonal, iia 2j semapv:UnspecifiedMatching MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:exactMatch Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J semapv:UnspecifiedMatching MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:exactMatch SCTID:717014003 semapv:UnspecifiedMatching MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:exactMatch mesh:C535417 semapv:UnspecifiedMatching MONDO:0011904 seizures, benign familial infantile, 3 skos:exactMatch DOID:0081116 benign familial infantile seizures 3 semapv:UnspecifiedMatching MONDO:0011904 seizures, benign familial infantile, 3 skos:exactMatch OMIM:607745 seizures, benign familial infantile, 3 semapv:UnspecifiedMatching MONDO:0011904 seizures, benign familial infantile, 3 skos:exactMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:UnspecifiedMatching MONDO:0011904 seizures, benign familial infantile, 3 skos:exactMatch UMLS:C1843140 semapv:UnspecifiedMatching MONDO:0011906 congenital bile acid synthesis defect 1 skos:exactMatch DOID:0111071 congenital bile acid synthesis defect 1 semapv:UnspecifiedMatching MONDO:0011906 congenital bile acid synthesis defect 1 skos:exactMatch OMIM:607765 bile acid synthesis defect, congenital, 1 semapv:UnspecifiedMatching MONDO:0011906 congenital bile acid synthesis defect 1 skos:exactMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:UnspecifiedMatching MONDO:0011906 congenital bile acid synthesis defect 1 skos:exactMatch mesh:C535442 semapv:UnspecifiedMatching MONDO:0011907 acrocapitofemoral dysplasia skos:exactMatch DOID:0050604 acrocapitofemoral dysplasia semapv:UnspecifiedMatching MONDO:0011907 acrocapitofemoral dysplasia skos:exactMatch OMIM:607778 acrocapitofemoral dysplasia semapv:UnspecifiedMatching MONDO:0011907 acrocapitofemoral dysplasia skos:exactMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:UnspecifiedMatching MONDO:0011907 acrocapitofemoral dysplasia skos:exactMatch SCTID:720416007 semapv:UnspecifiedMatching MONDO:0011907 acrocapitofemoral dysplasia skos:exactMatch UMLS:C1843096 semapv:UnspecifiedMatching MONDO:0011907 acrocapitofemoral dysplasia skos:exactMatch mesh:C564334 semapv:UnspecifiedMatching MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch DOID:0050458 juvenile myelomonocytic leukemia semapv:UnspecifiedMatching MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch NCIT:C9233 Juvenile Myelomonocytic Leukemia semapv:UnspecifiedMatching MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch OMIM:607785 juvenile myelomonocytic leukemia semapv:UnspecifiedMatching MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:UnspecifiedMatching MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch SCTID:445227008 semapv:UnspecifiedMatching MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch UMLS:C0349639 semapv:UnspecifiedMatching MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch mesh:D054429 semapv:UnspecifiedMatching MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:exactMatch DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D semapv:UnspecifiedMatching MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:exactMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:UnspecifiedMatching MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:exactMatch Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D semapv:UnspecifiedMatching MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:exactMatch SCTID:765747004 semapv:UnspecifiedMatching MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:exactMatch UMLS:C1843075 semapv:UnspecifiedMatching MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:exactMatch mesh:C564333 semapv:UnspecifiedMatching MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch DOID:0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C semapv:UnspecifiedMatching MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch NCIT:C148318 Limb-Girdle Muscular Dystrophy Type 1C semapv:UnspecifiedMatching MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch OMIM:607801 semapv:UnspecifiedMatching MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch Orphanet:265 Autosomal dominant limb-girdle muscular dystrophy type 1C semapv:UnspecifiedMatching MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch SCTID:719986000 semapv:UnspecifiedMatching MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch UMLS:C1832567 semapv:UnspecifiedMatching MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch mesh:C563362 semapv:UnspecifiedMatching MONDO:0011911 craniolenticulosutural dysplasia skos:exactMatch DOID:0070307 craniolenticulosutural dysplasia semapv:UnspecifiedMatching MONDO:0011911 craniolenticulosutural dysplasia skos:exactMatch OMIM:607812 craniolenticulosutural dysplasia semapv:UnspecifiedMatching MONDO:0011911 craniolenticulosutural dysplasia skos:exactMatch Orphanet:50814 Craniolenticulosutural dysplasia semapv:UnspecifiedMatching MONDO:0011911 craniolenticulosutural dysplasia skos:exactMatch SCTID:725100001 semapv:UnspecifiedMatching MONDO:0011911 craniolenticulosutural dysplasia skos:exactMatch UMLS:C1843042 semapv:UnspecifiedMatching MONDO:0011911 craniolenticulosutural dysplasia skos:exactMatch mesh:C564332 semapv:UnspecifiedMatching MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:exactMatch DOID:0110495 autosomal recessive nonsyndromic deafness 37 semapv:UnspecifiedMatching MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:exactMatch OMIM:607821 deafness, autosomal recessive 37 semapv:UnspecifiedMatching MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:exactMatch UMLS:C1843028 semapv:UnspecifiedMatching MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:exactMatch mesh:C564331 semapv:UnspecifiedMatching MONDO:0011913 Alzheimer disease 3 skos:exactMatch DOID:0110042 Alzheimer's disease 3 semapv:UnspecifiedMatching MONDO:0011913 Alzheimer disease 3 skos:exactMatch NCIT:C123412 Alzheimer's Disease 3 semapv:UnspecifiedMatching MONDO:0011913 Alzheimer disease 3 skos:exactMatch OMIM:607822 alzheimer disease 3 semapv:UnspecifiedMatching MONDO:0011913 Alzheimer disease 3 skos:exactMatch mesh:C536598 semapv:UnspecifiedMatching MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome skos:exactMatch DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome semapv:UnspecifiedMatching MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome skos:exactMatch OMIM:607823 hypotrichosis-lymphedema-telangiectasia syndrome semapv:UnspecifiedMatching MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome skos:exactMatch UMLS:C1843004 semapv:UnspecifiedMatching MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome skos:exactMatch mesh:C564327 semapv:UnspecifiedMatching MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:exactMatch OMIM:607829 mitral valve prolapse 2 semapv:UnspecifiedMatching MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:exactMatch UMLS:C1843003 semapv:UnspecifiedMatching MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:exactMatch mesh:C564326 semapv:UnspecifiedMatching MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:exactMatch DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K semapv:UnspecifiedMatching MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:exactMatch OMIM:607831 charcot-marie-tooth disease, axonal, iia 2k semapv:UnspecifiedMatching MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:exactMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:UnspecifiedMatching MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:exactMatch SCTID:725047007 semapv:UnspecifiedMatching MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:exactMatch UMLS:C1842983 semapv:UnspecifiedMatching MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:exactMatch DOID:0112245 focal segmental glomerulosclerosis 3 semapv:UnspecifiedMatching MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:exactMatch OMIM:607832 focal segmental glomerulosclerosis 3, susceptibility to semapv:UnspecifiedMatching MONDO:0011918 anxiety skos:exactMatch OMIM:607834 anxiety semapv:UnspecifiedMatching MONDO:0011918 anxiety skos:exactMatch mesh:D001007 semapv:UnspecifiedMatching MONDO:0011919 autoimmune disease, susceptibility to, 1 skos:exactMatch OMIM:607836 autoimmune disease, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:exactMatch DOID:0110571 autosomal dominant nonsyndromic deafness 48 semapv:UnspecifiedMatching MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:exactMatch OMIM:607841 deafness, autosomal dominant 48 semapv:UnspecifiedMatching MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:exactMatch UMLS:C1842939 semapv:UnspecifiedMatching MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:exactMatch mesh:C564322 semapv:UnspecifiedMatching MONDO:0011921 aural atresia, congenital skos:exactMatch OMIM:607842 aural atresia, congenital semapv:UnspecifiedMatching MONDO:0011921 aural atresia, congenital skos:exactMatch UMLS:C1842937 semapv:UnspecifiedMatching MONDO:0011921 aural atresia, congenital skos:exactMatch mesh:C564321 semapv:UnspecifiedMatching MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:exactMatch OMIM:607847 neutropenia, nonimmune chronic idiopathic, of adults semapv:UnspecifiedMatching MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:exactMatch Orphanet:2688 Adult idiopathic neutropenia semapv:UnspecifiedMatching MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:exactMatch UMLS:C1842930 semapv:UnspecifiedMatching MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:exactMatch mesh:C564320 semapv:UnspecifiedMatching MONDO:0011923 osteoarthritis susceptibility 3 skos:exactMatch OMIM:607850 osteoarthritis susceptibility 3 semapv:UnspecifiedMatching MONDO:0011924 panic disorder 2 skos:exactMatch OMIM:607853 panic disorder 2 semapv:UnspecifiedMatching MONDO:0011924 panic disorder 2 skos:exactMatch UMLS:C1842922 semapv:UnspecifiedMatching MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch DOID:0110636 congenital merosin-deficient muscular dystrophy 1A semapv:UnspecifiedMatching MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch NCIT:C118783 Merosin-Deficient Congenital Muscular Dystrophy Type 1A semapv:UnspecifiedMatching MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:UnspecifiedMatching MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:UnspecifiedMatching MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch SCTID:111503008 semapv:UnspecifiedMatching MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch UMLS:C1263858 semapv:UnspecifiedMatching MONDO:0011926 psoriasis 9, susceptibility to skos:exactMatch DOID:0111284 psoriasis 9 semapv:UnspecifiedMatching MONDO:0011926 psoriasis 9, susceptibility to skos:exactMatch OMIM:607857 psoriasis 9, susceptibility to semapv:UnspecifiedMatching MONDO:0011927 tufted angioma skos:exactMatch NCIT:C4487 Tufted Angioma semapv:UnspecifiedMatching MONDO:0011927 tufted angioma skos:exactMatch OMIM:607859 angioma, tufted semapv:UnspecifiedMatching MONDO:0011927 tufted angioma skos:exactMatch Orphanet:1063 Tufted angioma semapv:UnspecifiedMatching MONDO:0011927 tufted angioma skos:exactMatch SCTID:705155008 semapv:UnspecifiedMatching MONDO:0011927 tufted angioma skos:exactMatch UMLS:C0346073 semapv:UnspecifiedMatching MONDO:0011927 tufted angioma skos:exactMatch mesh:C536924 semapv:UnspecifiedMatching MONDO:0011928 caudal duplication skos:exactMatch OMIM:607864 caudal duplication anomaly semapv:UnspecifiedMatching MONDO:0011928 caudal duplication skos:exactMatch Orphanet:1756 Caudal duplication semapv:UnspecifiedMatching MONDO:0011928 caudal duplication skos:exactMatch SCTID:71464000 semapv:UnspecifiedMatching MONDO:0011928 caudal duplication skos:exactMatch UMLS:C1842884 semapv:UnspecifiedMatching MONDO:0011928 caudal duplication skos:exactMatch mesh:C564315 semapv:UnspecifiedMatching MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch DOID:0060410 chromosome 1p36 deletion syndrome semapv:UnspecifiedMatching MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch NCIT:C74983 1p36 Deletion Syndrome semapv:UnspecifiedMatching MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch OMIM:607872 chromosome 1p36 deletion syndrome, distal semapv:UnspecifiedMatching MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch Orphanet:1606 1p36 deletion syndrome semapv:UnspecifiedMatching MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch SCTID:699306003 semapv:UnspecifiedMatching MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch UMLS:C1842870 semapv:UnspecifiedMatching MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch mesh:C535362 semapv:UnspecifiedMatching MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:exactMatch DOID:0111692 familial adult myoclonic epilepsy 2 semapv:UnspecifiedMatching MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:exactMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:UnspecifiedMatching MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:exactMatch UMLS:C1842852 semapv:UnspecifiedMatching MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:exactMatch mesh:C564313 semapv:UnspecifiedMatching MONDO:0011931 ovarian cancer, susceptibility to, 1 skos:exactMatch OMIM:607893 ovarian cancer, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011932 hypotrichosis 6 skos:exactMatch DOID:0110703 hypotrichosis 6 semapv:UnspecifiedMatching MONDO:0011932 hypotrichosis 6 skos:exactMatch OMIM:607903 hypotrichosis 6 semapv:UnspecifiedMatching MONDO:0011932 hypotrichosis 6 skos:exactMatch UMLS:C1842839 semapv:UnspecifiedMatching MONDO:0011932 hypotrichosis 6 skos:exactMatch mesh:C564312 semapv:UnspecifiedMatching MONDO:0011933 ALG2-congenital disorder of glycosylation skos:exactMatch DOID:0080561 congenital disorder of glycosylation Ii semapv:UnspecifiedMatching MONDO:0011933 ALG2-congenital disorder of glycosylation skos:exactMatch OMIM:607906 congenital disorder of glycosylation, iia ii semapv:UnspecifiedMatching MONDO:0011933 ALG2-congenital disorder of glycosylation skos:exactMatch Orphanet:79326 ALG2-CDG semapv:UnspecifiedMatching MONDO:0011934 dermatofibrosarcoma protuberans skos:exactMatch DOID:3507 dermatofibrosarcoma protuberans semapv:UnspecifiedMatching MONDO:0011934 dermatofibrosarcoma protuberans skos:exactMatch NCIT:C4683 Dermatofibrosarcoma Protuberans semapv:UnspecifiedMatching MONDO:0011934 dermatofibrosarcoma protuberans skos:exactMatch OMIM:607907 dermatofibrosarcoma protuberans semapv:UnspecifiedMatching MONDO:0011934 dermatofibrosarcoma protuberans skos:exactMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:UnspecifiedMatching MONDO:0011934 dermatofibrosarcoma protuberans skos:exactMatch SCTID:276799004 semapv:UnspecifiedMatching MONDO:0011934 dermatofibrosarcoma protuberans skos:exactMatch UMLS:C3693482 semapv:UnspecifiedMatching MONDO:0011934 dermatofibrosarcoma protuberans skos:exactMatch mesh:D018223 semapv:UnspecifiedMatching MONDO:0011935 retinitis pigmentosa 30 skos:exactMatch DOID:0110406 retinitis pigmentosa 30 semapv:UnspecifiedMatching MONDO:0011935 retinitis pigmentosa 30 skos:exactMatch OMIM:607921 retinitis pigmentosa 30 semapv:UnspecifiedMatching MONDO:0011935 retinitis pigmentosa 30 skos:exactMatch UMLS:C1842816 semapv:UnspecifiedMatching MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch DOID:0111805 syndromic microphthalmia 6 semapv:UnspecifiedMatching MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch OMIM:607932 microphthalmia, syndromic 6 semapv:UnspecifiedMatching MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:UnspecifiedMatching MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch SCTID:721878003 semapv:UnspecifiedMatching MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch UMLS:C1864689 semapv:UnspecifiedMatching MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch mesh:C566440 semapv:UnspecifiedMatching MONDO:0011937 peeling skin syndrome 4 skos:exactMatch OMIM:607936 peeling skin syndrome 4 semapv:UnspecifiedMatching MONDO:0011937 peeling skin syndrome 4 skos:exactMatch UMLS:C4225407 semapv:UnspecifiedMatching MONDO:0011937 peeling skin syndrome 4 skos:exactMatch mesh:C564309 semapv:UnspecifiedMatching MONDO:0011938 atrial septal defect 2 skos:exactMatch DOID:0110107 atrial heart septal defect 2 semapv:UnspecifiedMatching MONDO:0011938 atrial septal defect 2 skos:exactMatch OMIM:607941 atrial septal defect 2 semapv:UnspecifiedMatching MONDO:0011938 atrial septal defect 2 skos:exactMatch UMLS:C1842778 semapv:UnspecifiedMatching MONDO:0011938 atrial septal defect 2 skos:exactMatch mesh:C538263 semapv:UnspecifiedMatching MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch OMIM:607944 spondyloenchondrodysplasia with immune dysregulation semapv:UnspecifiedMatching MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:UnspecifiedMatching MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch SCTID:703523004 semapv:UnspecifiedMatching MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch UMLS:C1842763 semapv:UnspecifiedMatching MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch mesh:C564307 semapv:UnspecifiedMatching MONDO:0011940 mycobacterium tuberculosis, susceptibility to skos:exactMatch OMIM:607948 mycobacterium tuberculosis, susceptibility to semapv:UnspecifiedMatching MONDO:0011940 mycobacterium tuberculosis, susceptibility to skos:exactMatch mesh:C536092 semapv:UnspecifiedMatching MONDO:0011941 mycobacterium tuberculosis, susceptibility to, 1 skos:exactMatch OMIM:607949 mycobacterium tuberculosis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011942 systemic lupus erythematosus with nephritis, susceptibility to, 1 skos:exactMatch OMIM:607965 systemic lupus erythematosus with nephritis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011943 systemic lupus erythematosus with nephritis, susceptibility to, 2 skos:exactMatch OMIM:607966 systemic lupus erythematosus with nephritis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011944 systemic lupus erythematosus with nephritis, susceptibility to, 3 skos:exactMatch OMIM:607967 systemic lupus erythematosus with nephritis, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0011945 Gaucher disease perinatal lethal skos:exactMatch DOID:0110960 Gaucher's disease perinatal lethal semapv:UnspecifiedMatching MONDO:0011945 Gaucher disease perinatal lethal skos:exactMatch OMIM:608013 gaucher disease, perinatal lethal semapv:UnspecifiedMatching MONDO:0011945 Gaucher disease perinatal lethal skos:exactMatch Orphanet:85212 Fetal Gaucher disease semapv:UnspecifiedMatching MONDO:0011945 Gaucher disease perinatal lethal skos:exactMatch UMLS:C1842704 semapv:UnspecifiedMatching MONDO:0011945 Gaucher disease perinatal lethal skos:exactMatch mesh:C564306 semapv:UnspecifiedMatching MONDO:0011946 diaphanospondylodysostosis skos:exactMatch OMIM:608022 diaphanospondylodysostosis semapv:UnspecifiedMatching MONDO:0011946 diaphanospondylodysostosis skos:exactMatch Orphanet:66637 Diaphanospondylodysostosis semapv:UnspecifiedMatching MONDO:0011946 diaphanospondylodysostosis skos:exactMatch SCTID:721094006 semapv:UnspecifiedMatching MONDO:0011946 diaphanospondylodysostosis skos:exactMatch UMLS:C1842691 semapv:UnspecifiedMatching MONDO:0011946 diaphanospondylodysostosis skos:exactMatch mesh:C564305 semapv:UnspecifiedMatching MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch DOID:0060272 pontocerebellar hypoplasia type 3 semapv:UnspecifiedMatching MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch OMIM:608027 pontocerebellar hypoplasia, iia 3 semapv:UnspecifiedMatching MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:UnspecifiedMatching MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch SCTID:718609003 semapv:UnspecifiedMatching MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch UMLS:C1842687 semapv:UnspecifiedMatching MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch mesh:C548072 semapv:UnspecifiedMatching MONDO:0011949 Thai symphalangism syndrome skos:exactMatch OMIM:608028 thai symphalangism syndrome semapv:UnspecifiedMatching MONDO:0011949 Thai symphalangism syndrome skos:exactMatch UMLS:C1842679 semapv:UnspecifiedMatching MONDO:0011949 Thai symphalangism syndrome skos:exactMatch mesh:C564303 semapv:UnspecifiedMatching MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:exactMatch DOID:0111617 autosomal recessive spinocerebellar ataxia 6 semapv:UnspecifiedMatching MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:exactMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:UnspecifiedMatching MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:exactMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:UnspecifiedMatching MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:exactMatch UMLS:C1842676 semapv:UnspecifiedMatching MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:exactMatch mesh:C537312 semapv:UnspecifiedMatching MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:exactMatch DOID:0060198 amyotrophic lateral sclerosis type 6 semapv:UnspecifiedMatching MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:exactMatch OMIM:608030 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia semapv:UnspecifiedMatching MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:exactMatch mesh:C567699 semapv:UnspecifiedMatching MONDO:0011952 amyotrophic lateral sclerosis type 7 skos:exactMatch DOID:0060199 amyotrophic lateral sclerosis type 7 semapv:UnspecifiedMatching MONDO:0011952 amyotrophic lateral sclerosis type 7 skos:exactMatch OMIM:608031 amyotrophic lateral sclerosis 7 semapv:UnspecifiedMatching MONDO:0011952 amyotrophic lateral sclerosis type 7 skos:exactMatch UMLS:C1842674 semapv:UnspecifiedMatching MONDO:0011952 amyotrophic lateral sclerosis type 7 skos:exactMatch mesh:C564300 semapv:UnspecifiedMatching MONDO:0011953 familial acute necrotizing encephalopathy skos:exactMatch OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0011953 familial acute necrotizing encephalopathy skos:exactMatch Orphanet:88619 Familial acute necrotizing encephalopathy semapv:UnspecifiedMatching MONDO:0011953 familial acute necrotizing encephalopathy skos:exactMatch SCTID:723359002 semapv:UnspecifiedMatching MONDO:0011953 familial acute necrotizing encephalopathy skos:exactMatch UMLS:C2675556 semapv:UnspecifiedMatching MONDO:0011954 melanoma, cutaneous malignant, susceptibility to, 4 skos:exactMatch OMIM:608035 melanoma, cutaneous malignant, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0011955 diabetes mellitus, noninsulin-dependent, 4 skos:exactMatch OMIM:608036 iia 2 diabetes mellitus 4 semapv:UnspecifiedMatching MONDO:0011955 diabetes mellitus, noninsulin-dependent, 4 skos:exactMatch UMLS:C1842642 semapv:UnspecifiedMatching MONDO:0011955 diabetes mellitus, noninsulin-dependent, 4 skos:exactMatch mesh:C564299 semapv:UnspecifiedMatching MONDO:0011956 autism, susceptibility to, 3 skos:exactMatch OMIM:608049 autism, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0011957 retinal macular dystrophy type 2 skos:exactMatch OMIM:608051 macular dystrophy, retinal, 2 semapv:UnspecifiedMatching MONDO:0011957 retinal macular dystrophy type 2 skos:exactMatch Orphanet:319640 Retinal macular dystrophy type 2 semapv:UnspecifiedMatching MONDO:0011957 retinal macular dystrophy type 2 skos:exactMatch mesh:C562746 semapv:UnspecifiedMatching MONDO:0011958 bile and pancreatic ducts, complete absence of skos:exactMatch OMIM:608063 bile and pancreatic ducts, complete absence of semapv:UnspecifiedMatching MONDO:0011958 bile and pancreatic ducts, complete absence of skos:exactMatch mesh:C564298 semapv:UnspecifiedMatching MONDO:0011959 sweet syndrome skos:exactMatch DOID:0080746 Sweet syndrome semapv:UnspecifiedMatching MONDO:0011959 sweet syndrome skos:exactMatch NCIT:C85177 Sweet Syndrome semapv:UnspecifiedMatching MONDO:0011959 sweet syndrome skos:exactMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:UnspecifiedMatching MONDO:0011959 sweet syndrome skos:exactMatch Orphanet:3243 Sweet syndrome semapv:UnspecifiedMatching MONDO:0011959 sweet syndrome skos:exactMatch SCTID:84625002 semapv:UnspecifiedMatching MONDO:0011959 sweet syndrome skos:exactMatch UMLS:C0085077 semapv:UnspecifiedMatching MONDO:0011959 sweet syndrome skos:exactMatch mesh:D016463 semapv:UnspecifiedMatching MONDO:0011960 schizophrenia 11 skos:exactMatch DOID:0070087 schizophrenia 11 semapv:UnspecifiedMatching MONDO:0011960 schizophrenia 11 skos:exactMatch OMIM:608078 schizophrenia 11 semapv:UnspecifiedMatching MONDO:0011960 schizophrenia 11 skos:exactMatch UMLS:C1842605 semapv:UnspecifiedMatching MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:exactMatch DOID:0070148 hereditary sensory neuropathy type 1B semapv:UnspecifiedMatching MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:exactMatch OMIM:608088 neuropathy, hereditary sensory and autonomic, iia i, with cough and gastroesophageal reflux semapv:UnspecifiedMatching MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:exactMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:UnspecifiedMatching MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:exactMatch SCTID:717825008 semapv:UnspecifiedMatching MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:exactMatch UMLS:C1842586 semapv:UnspecifiedMatching MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:exactMatch mesh:C564296 semapv:UnspecifiedMatching MONDO:0011962 endometrial cancer skos:exactMatch DOID:1380 endometrial cancer semapv:UnspecifiedMatching MONDO:0011962 endometrial cancer skos:exactMatch NCIT:C27815 Malignant Endometrial Neoplasm semapv:UnspecifiedMatching MONDO:0011962 endometrial cancer skos:exactMatch OMIM:608089 endometrial cancer semapv:UnspecifiedMatching MONDO:0011963 Joubert syndrome 2 skos:exactMatch DOID:0110988 Joubert syndrome 2 semapv:UnspecifiedMatching MONDO:0011963 Joubert syndrome 2 skos:exactMatch OMIM:608091 joubert syndrome 2 semapv:UnspecifiedMatching MONDO:0011963 Joubert syndrome 2 skos:exactMatch UMLS:C1842577 semapv:UnspecifiedMatching MONDO:0011963 Joubert syndrome 2 skos:exactMatch mesh:C536294 semapv:UnspecifiedMatching MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch DOID:0080562 congenital disorder of glycosylation Ij semapv:UnspecifiedMatching MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch NCIT:C126874 Congenital Disorder of Glycosylation Type Ij semapv:UnspecifiedMatching MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch OMIM:608093 congenital disorder of glycosylation, iia ij semapv:UnspecifiedMatching MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch Orphanet:86309 DPAGT1-CDG semapv:UnspecifiedMatching MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch SCTID:725079003 semapv:UnspecifiedMatching MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch UMLS:C2931004 semapv:UnspecifiedMatching MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch mesh:C535748 semapv:UnspecifiedMatching MONDO:0011965 familial temporal lobe epilepsy 2 skos:exactMatch DOID:0060755 familial temporal lobe epilepsy 2 semapv:UnspecifiedMatching MONDO:0011965 familial temporal lobe epilepsy 2 skos:exactMatch OMIM:608096 epilepsy, familial temporal lobe, 2 semapv:UnspecifiedMatching MONDO:0011965 familial temporal lobe epilepsy 2 skos:exactMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:UnspecifiedMatching MONDO:0011965 familial temporal lobe epilepsy 2 skos:exactMatch mesh:C536956 semapv:UnspecifiedMatching MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:exactMatch OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive semapv:UnspecifiedMatching MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:exactMatch UMLS:C1842563 semapv:UnspecifiedMatching MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:exactMatch mesh:C564292 semapv:UnspecifiedMatching MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:exactMatch OMIM:608098 periventricular nodular heterotopia 3 semapv:UnspecifiedMatching MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:exactMatch UMLS:C1842562 semapv:UnspecifiedMatching MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:exactMatch mesh:C564291 semapv:UnspecifiedMatching MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:exactMatch DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D semapv:UnspecifiedMatching MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:exactMatch NCIT:C142081 Limb-Girdle Muscular Dystrophy Type 2D semapv:UnspecifiedMatching MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:exactMatch OMIM:608099 muscular dystrophy, limb-girdle, autosomal recessive 3 semapv:UnspecifiedMatching MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:exactMatch Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:UnspecifiedMatching MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:exactMatch SCTID:715340002 semapv:UnspecifiedMatching MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch DOID:0080560 congenital disorder of glycosylation Ih semapv:UnspecifiedMatching MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch OMIM:608104 congenital disorder of glycosylation, iia ih semapv:UnspecifiedMatching MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch Orphanet:79325 ALG8-CDG semapv:UnspecifiedMatching MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch SCTID:720977000 semapv:UnspecifiedMatching MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch UMLS:C2931002 semapv:UnspecifiedMatching MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch mesh:C535746 semapv:UnspecifiedMatching MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch DOID:0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:UnspecifiedMatching MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp semapv:UnspecifiedMatching MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:UnspecifiedMatching MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch UMLS:C1842531 semapv:UnspecifiedMatching MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch mesh:C535499 semapv:UnspecifiedMatching MONDO:0011971 hyper-IgM syndrome type 5 skos:exactMatch DOID:0060759 immunodeficiency with hyper IgM type 5 semapv:UnspecifiedMatching MONDO:0011971 hyper-IgM syndrome type 5 skos:exactMatch OMIM:608106 immunodeficiency with hyper-igm, iia 5 semapv:UnspecifiedMatching MONDO:0011971 hyper-IgM syndrome type 5 skos:exactMatch Orphanet:101092 Hyper-IgM syndrome type 5 semapv:UnspecifiedMatching MONDO:0011972 ovarian hyperstimulation syndrome skos:exactMatch DOID:5425 ovarian hyperstimulation syndrome semapv:UnspecifiedMatching MONDO:0011972 ovarian hyperstimulation syndrome skos:exactMatch OMIM:608115 ovarian hyperstimulation syndrome semapv:UnspecifiedMatching MONDO:0011972 ovarian hyperstimulation syndrome skos:exactMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:UnspecifiedMatching MONDO:0011972 ovarian hyperstimulation syndrome skos:exactMatch SCTID:129635004 semapv:UnspecifiedMatching MONDO:0011972 ovarian hyperstimulation syndrome skos:exactMatch UMLS:C0085083 semapv:UnspecifiedMatching MONDO:0011972 ovarian hyperstimulation syndrome skos:exactMatch mesh:D016471 semapv:UnspecifiedMatching MONDO:0011973 zinc deficiency, transient neonatal skos:exactMatch OMIM:608118 zinc deficiency, transient neonatal semapv:UnspecifiedMatching MONDO:0011973 zinc deficiency, transient neonatal skos:exactMatch UMLS:C1842486 semapv:UnspecifiedMatching MONDO:0011973 zinc deficiency, transient neonatal skos:exactMatch mesh:C564286 semapv:UnspecifiedMatching MONDO:0011974 retinitis pigmentosa 7 skos:exactMatch DOID:0110383 retinitis pigmentosa 7 semapv:UnspecifiedMatching MONDO:0011974 retinitis pigmentosa 7 skos:exactMatch OMIM:608133 retinitis pigmentosa 7 semapv:UnspecifiedMatching MONDO:0011974 retinitis pigmentosa 7 skos:exactMatch UMLS:C1842475 semapv:UnspecifiedMatching MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:exactMatch OMIM:608149 kagami-ogata syndrome semapv:UnspecifiedMatching MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:exactMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:UnspecifiedMatching MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:exactMatch UMLS:C1842466 semapv:UnspecifiedMatching MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:exactMatch mesh:C536471 semapv:UnspecifiedMatching MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:exactMatch OMIM:608154 lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones semapv:UnspecifiedMatching MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:exactMatch Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome semapv:UnspecifiedMatching MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:exactMatch SCTID:721973006 semapv:UnspecifiedMatching MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:exactMatch mesh:C564283 semapv:UnspecifiedMatching MONDO:0011977 8q22.1 microdeletion syndrome skos:exactMatch OMIM:608156 nablus mask-like facial syndrome semapv:UnspecifiedMatching MONDO:0011977 8q22.1 microdeletion syndrome skos:exactMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0011977 8q22.1 microdeletion syndrome skos:exactMatch SCTID:719664004 semapv:UnspecifiedMatching MONDO:0011977 8q22.1 microdeletion syndrome skos:exactMatch UMLS:C1842464 semapv:UnspecifiedMatching MONDO:0011977 8q22.1 microdeletion syndrome skos:exactMatch mesh:C536110 semapv:UnspecifiedMatching MONDO:0011978 CoQ-responsive OXPHOS deficiency skos:exactMatch OMIM:608158 coq-responsive oxphos deficiency semapv:UnspecifiedMatching MONDO:0011978 CoQ-responsive OXPHOS deficiency skos:exactMatch UMLS:C1842463 semapv:UnspecifiedMatching MONDO:0011978 CoQ-responsive OXPHOS deficiency skos:exactMatch mesh:C535470 semapv:UnspecifiedMatching MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:exactMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:UnspecifiedMatching MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:exactMatch SCTID:232049001 semapv:UnspecifiedMatching MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:exactMatch UMLS:C1842914 semapv:UnspecifiedMatching MONDO:0011980 autoimmune thyroid disease, susceptibility to, 1 skos:exactMatch OMIM:608173 autoimmune thyroid disease, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011980 autoimmune thyroid disease, susceptibility to, 1 skos:exactMatch UMLS:C1842446 semapv:UnspecifiedMatching MONDO:0011981 autoimmune thyroid disease, susceptibility to, 2 skos:exactMatch OMIM:608174 autoimmune thyroid disease, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0011981 autoimmune thyroid disease, susceptibility to, 2 skos:exactMatch UMLS:C1842445 semapv:UnspecifiedMatching MONDO:0011982 autoimmune thyroid disease, susceptibility to, 3 skos:exactMatch OMIM:608175 autoimmune thyroid disease, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0011983 autoimmune thyroid disease, susceptibility to, 4 skos:exactMatch OMIM:608176 autoimmune thyroid disease, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0011983 autoimmune thyroid disease, susceptibility to, 4 skos:exactMatch UMLS:C1842443 semapv:UnspecifiedMatching MONDO:0011984 synpolydactyly type 2 skos:exactMatch OMIM:608180 synpolydactyly 2 semapv:UnspecifiedMatching MONDO:0011984 synpolydactyly type 2 skos:exactMatch Orphanet:295197 Synpolydactyly type 2 semapv:UnspecifiedMatching MONDO:0011984 synpolydactyly type 2 skos:exactMatch UMLS:C1842422 semapv:UnspecifiedMatching MONDO:0011984 synpolydactyly type 2 skos:exactMatch mesh:C564278 semapv:UnspecifiedMatching MONDO:0011985 hyper-IgM syndrome type 4 skos:exactMatch DOID:0060760 immunodeficiency with hyper-IgM type 4 semapv:UnspecifiedMatching MONDO:0011985 hyper-IgM syndrome type 4 skos:exactMatch OMIM:608184 immunodeficiency with hyper-igm, iia 4 semapv:UnspecifiedMatching MONDO:0011985 hyper-IgM syndrome type 4 skos:exactMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:UnspecifiedMatching MONDO:0011985 hyper-IgM syndrome type 4 skos:exactMatch UMLS:C1842413 semapv:UnspecifiedMatching MONDO:0011985 hyper-IgM syndrome type 4 skos:exactMatch mesh:C564277 semapv:UnspecifiedMatching MONDO:0011986 tropical pancreatitis skos:exactMatch OMIM:608189 tropical calcific pancreatitis semapv:UnspecifiedMatching MONDO:0011986 tropical pancreatitis skos:exactMatch Orphanet:103918 Tropical pancreatitis semapv:UnspecifiedMatching MONDO:0011986 tropical pancreatitis skos:exactMatch SCTID:724540009 semapv:UnspecifiedMatching MONDO:0011986 tropical pancreatitis skos:exactMatch UMLS:C1842402 semapv:UnspecifiedMatching MONDO:0011986 tropical pancreatitis skos:exactMatch mesh:C564276 semapv:UnspecifiedMatching MONDO:0011987 cone-rod dystrophy 13 skos:exactMatch DOID:0111016 cone-rod dystrophy 13 semapv:UnspecifiedMatching MONDO:0011987 cone-rod dystrophy 13 skos:exactMatch OMIM:608194 cone-rod dystrophy 13 semapv:UnspecifiedMatching MONDO:0011987 cone-rod dystrophy 13 skos:exactMatch UMLS:C2750720 semapv:UnspecifiedMatching MONDO:0011987 cone-rod dystrophy 13 skos:exactMatch mesh:C567698 semapv:UnspecifiedMatching MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:UnspecifiedMatching MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch OMIM:608203 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:UnspecifiedMatching MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:UnspecifiedMatching MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch SCTID:723443003 semapv:UnspecifiedMatching MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch UMLS:C1842398 semapv:UnspecifiedMatching MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch mesh:C564275 semapv:UnspecifiedMatching MONDO:0011989 leishmaniasis skos:exactMatch DOID:9065 leishmaniasis semapv:UnspecifiedMatching MONDO:0011989 leishmaniasis skos:exactMatch ICD10CM:B55 Leishmaniasis semapv:UnspecifiedMatching MONDO:0011989 leishmaniasis skos:exactMatch NCIT:C34767 Leishmaniasis semapv:UnspecifiedMatching MONDO:0011989 leishmaniasis skos:exactMatch Orphanet:507 Leishmaniasis semapv:UnspecifiedMatching MONDO:0011989 leishmaniasis skos:exactMatch SCTID:80612004 semapv:UnspecifiedMatching MONDO:0011989 leishmaniasis skos:exactMatch UMLS:C0023281 semapv:UnspecifiedMatching MONDO:0011989 leishmaniasis skos:exactMatch mesh:D007896 semapv:UnspecifiedMatching MONDO:0011990 seizures, benign familial neonatal, 3 skos:exactMatch OMIM:608217 seizures, benign familial neonatal, 3 semapv:UnspecifiedMatching MONDO:0011990 seizures, benign familial neonatal, 3 skos:exactMatch UMLS:C1842382 semapv:UnspecifiedMatching MONDO:0011990 seizures, benign familial neonatal, 3 skos:exactMatch mesh:C564274 semapv:UnspecifiedMatching MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:exactMatch DOID:0110496 autosomal recessive nonsyndromic deafness 38 semapv:UnspecifiedMatching MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:exactMatch OMIM:608219 deafness, autosomal recessive 38 semapv:UnspecifiedMatching MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:exactMatch UMLS:C1842381 semapv:UnspecifiedMatching MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:exactMatch mesh:C564273 semapv:UnspecifiedMatching MONDO:0011992 hereditary spastic paraplegia 25 skos:exactMatch DOID:0110776 hereditary spastic paraplegia 25 semapv:UnspecifiedMatching MONDO:0011992 hereditary spastic paraplegia 25 skos:exactMatch OMIM:608220 spastic paraplegia 25, autosomal recessive semapv:UnspecifiedMatching MONDO:0011992 hereditary spastic paraplegia 25 skos:exactMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:UnspecifiedMatching MONDO:0011992 hereditary spastic paraplegia 25 skos:exactMatch SCTID:732933009 semapv:UnspecifiedMatching MONDO:0011992 hereditary spastic paraplegia 25 skos:exactMatch UMLS:C2936860 semapv:UnspecifiedMatching MONDO:0011992 hereditary spastic paraplegia 25 skos:exactMatch mesh:C536861 semapv:UnspecifiedMatching MONDO:0011993 aspirin resistance skos:exactMatch OMIM:608223 aspirin resistance semapv:UnspecifiedMatching MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:exactMatch DOID:0110567 autosomal dominant nonsyndromic deafness 41 semapv:UnspecifiedMatching MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:exactMatch OMIM:608224 deafness, autosomal dominant 41 semapv:UnspecifiedMatching MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:exactMatch UMLS:C1842371 semapv:UnspecifiedMatching MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:exactMatch mesh:C564272 semapv:UnspecifiedMatching MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:exactMatch OMIM:608227 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation semapv:UnspecifiedMatching MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:exactMatch Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome semapv:UnspecifiedMatching MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:exactMatch UMLS:C1842363 semapv:UnspecifiedMatching MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:exactMatch mesh:C564271 semapv:UnspecifiedMatching MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive semapv:UnspecifiedMatching MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch DOID:8552 chronic myeloid leukemia semapv:UnspecifiedMatching MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch NCIT:C3174 Chronic Myeloid Leukemia, BCR-ABL1 Positive semapv:UnspecifiedMatching MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch OMIM:608232 leukemia, chronic myeloid semapv:UnspecifiedMatching MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch Orphanet:521 Chronic myeloid leukemia semapv:UnspecifiedMatching MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch UMLS:C0023473 semapv:UnspecifiedMatching MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch DOID:0060540 Hermansky-Pudlak syndrome 2 semapv:UnspecifiedMatching MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch NCIT:C150368 Hermansky-Pudlak Syndrome 2 semapv:UnspecifiedMatching MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch OMIM:608233 hermansky-pudlak syndrome 2 semapv:UnspecifiedMatching MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:UnspecifiedMatching MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch UMLS:C1842362 semapv:UnspecifiedMatching MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch mesh:C537709 semapv:UnspecifiedMatching MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:exactMatch OMIM:608236 slowed nerve conduction velocity, autosomal dominant semapv:UnspecifiedMatching MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:exactMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:UnspecifiedMatching MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:exactMatch SCTID:764854006 semapv:UnspecifiedMatching MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:exactMatch UMLS:C1842357 semapv:UnspecifiedMatching MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:exactMatch mesh:C564269 semapv:UnspecifiedMatching MONDO:0011999 otosclerosis 3 skos:exactMatch OMIM:608244 otosclerosis 3 semapv:UnspecifiedMatching MONDO:0011999 otosclerosis 3 skos:exactMatch UMLS:C1842353 semapv:UnspecifiedMatching MONDO:0011999 otosclerosis 3 skos:exactMatch mesh:C564268 semapv:UnspecifiedMatching MONDO:0012000 specific phobia skos:exactMatch DOID:599 specific phobia semapv:UnspecifiedMatching MONDO:0012000 specific phobia skos:exactMatch NCIT:C35284 Specific Phobia semapv:UnspecifiedMatching MONDO:0012000 specific phobia skos:exactMatch OMIM:608251 phobia, specific semapv:UnspecifiedMatching MONDO:0012000 specific phobia skos:exactMatch SCTID:54587008 semapv:UnspecifiedMatching MONDO:0012000 specific phobia skos:exactMatch mesh:C562465 semapv:UnspecifiedMatching MONDO:0012001 mandibulofacial dysostosis with ptosis, autosomal dominant skos:exactMatch OMIM:608257 mandibulofacial dysostosis with ptosis, autosomal dominant semapv:UnspecifiedMatching MONDO:0012001 mandibulofacial dysostosis with ptosis, autosomal dominant skos:exactMatch UMLS:C1842349 semapv:UnspecifiedMatching MONDO:0012001 mandibulofacial dysostosis with ptosis, autosomal dominant skos:exactMatch mesh:C564267 semapv:UnspecifiedMatching MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:exactMatch DOID:0110499 autosomal recessive nonsyndromic deafness 40 semapv:UnspecifiedMatching MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:exactMatch OMIM:608264 deafness, autosomal recessive 40 semapv:UnspecifiedMatching MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:exactMatch UMLS:C1842345 semapv:UnspecifiedMatching MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:exactMatch mesh:C564266 semapv:UnspecifiedMatching MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:exactMatch DOID:0110497 autosomal recessive nonsyndromic deafness 39 semapv:UnspecifiedMatching MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:exactMatch NCIT:C129874 Deafness, Autosomal Recessive 39 semapv:UnspecifiedMatching MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:exactMatch OMIM:608265 deafness, autosomal recessive 39 semapv:UnspecifiedMatching MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:exactMatch UMLS:C1842342 semapv:UnspecifiedMatching MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:exactMatch mesh:C564265 semapv:UnspecifiedMatching MONDO:0012004 parathyroid gland carcinoma skos:exactMatch DOID:1540 parathyroid carcinoma semapv:UnspecifiedMatching MONDO:0012004 parathyroid gland carcinoma skos:exactMatch NCIT:C4906 Parathyroid Gland Carcinoma semapv:UnspecifiedMatching MONDO:0012004 parathyroid gland carcinoma skos:exactMatch OMIM:608266 parathyroid carcinoma semapv:UnspecifiedMatching MONDO:0012004 parathyroid gland carcinoma skos:exactMatch Orphanet:143 Parathyroid carcinoma semapv:UnspecifiedMatching MONDO:0012004 parathyroid gland carcinoma skos:exactMatch SCTID:255037004 semapv:UnspecifiedMatching MONDO:0012005 growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy skos:exactMatch OMIM:608278 growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy semapv:UnspecifiedMatching MONDO:0012005 growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy skos:exactMatch UMLS:C1842321 semapv:UnspecifiedMatching MONDO:0012005 growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy skos:exactMatch mesh:C564264 semapv:UnspecifiedMatching MONDO:0012006 craniosynostosis with ocular abnormalities and hallucal defects skos:exactMatch OMIM:608279 craniosynostosis with ocular abnormalities and hallucal defects semapv:UnspecifiedMatching MONDO:0012006 craniosynostosis with ocular abnormalities and hallucal defects skos:exactMatch UMLS:C1842316 semapv:UnspecifiedMatching MONDO:0012006 craniosynostosis with ocular abnormalities and hallucal defects skos:exactMatch mesh:C564263 semapv:UnspecifiedMatching MONDO:0012007 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities skos:exactMatch OMIM:608281 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities semapv:UnspecifiedMatching MONDO:0012007 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities skos:exactMatch UMLS:C1842315 semapv:UnspecifiedMatching MONDO:0012007 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities skos:exactMatch mesh:C564262 semapv:UnspecifiedMatching MONDO:0012008 Lelis syndrome skos:exactMatch OMIM:608290 lelis syndrome semapv:UnspecifiedMatching MONDO:0012008 Lelis syndrome skos:exactMatch Orphanet:140936 Lelis syndrome semapv:UnspecifiedMatching MONDO:0012008 Lelis syndrome skos:exactMatch SCTID:719429003 semapv:UnspecifiedMatching MONDO:0012008 Lelis syndrome skos:exactMatch UMLS:C1842307 semapv:UnspecifiedMatching MONDO:0012008 Lelis syndrome skos:exactMatch mesh:C564261 semapv:UnspecifiedMatching MONDO:0012009 coronary heart disease, susceptibility to, 2 skos:exactMatch OMIM:608316 coronary heart disease, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012009 coronary heart disease, susceptibility to, 2 skos:exactMatch UMLS:C1842260 semapv:UnspecifiedMatching MONDO:0012010 coronary heart disease, susceptibility to, 4 skos:exactMatch OMIM:608318 coronary heart disease, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012010 coronary heart disease, susceptibility to, 4 skos:exactMatch UMLS:C1842258 semapv:UnspecifiedMatching MONDO:0012011 coronary artery disease, autosomal dominant, 1 skos:exactMatch OMIM:608320 coronary artery disease, autosomal dominant, 1 semapv:UnspecifiedMatching MONDO:0012011 coronary artery disease, autosomal dominant, 1 skos:exactMatch UMLS:C1842247 semapv:UnspecifiedMatching MONDO:0012011 coronary artery disease, autosomal dominant, 1 skos:exactMatch mesh:C564258 semapv:UnspecifiedMatching MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:exactMatch DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C semapv:UnspecifiedMatching MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:exactMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:UnspecifiedMatching MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:exactMatch Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:UnspecifiedMatching MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:exactMatch SCTID:765746008 semapv:UnspecifiedMatching MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:exactMatch UMLS:C1842237 semapv:UnspecifiedMatching MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:exactMatch mesh:C564257 semapv:UnspecifiedMatching MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:exactMatch OMIM:608328 weill-marchesani syndrome 2 semapv:UnspecifiedMatching MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:exactMatch Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome semapv:UnspecifiedMatching MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:exactMatch SCTID:722450007 semapv:UnspecifiedMatching MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:exactMatch DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A semapv:UnspecifiedMatching MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:exactMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:UnspecifiedMatching MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:exactMatch Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:UnspecifiedMatching MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:exactMatch UMLS:C1842197 semapv:UnspecifiedMatching MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:exactMatch mesh:C564256 semapv:UnspecifiedMatching MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:exactMatch DOID:0111793 congenital nystagmus 3 semapv:UnspecifiedMatching MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:exactMatch OMIM:608345 nystagmus 3, congenital, autosomal dominant semapv:UnspecifiedMatching MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:exactMatch UMLS:C1842186 semapv:UnspecifiedMatching MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:exactMatch mesh:C537855 semapv:UnspecifiedMatching MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:exactMatch NCIT:C179668 Capillary Malformation-Arteriovenous Malformation Syndrome semapv:UnspecifiedMatching MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:exactMatch OMIMPS:608354 semapv:UnspecifiedMatching MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:exactMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:UnspecifiedMatching MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:exactMatch SCTID:703533007 semapv:UnspecifiedMatching MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:exactMatch mesh:C564254 semapv:UnspecifiedMatching MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch DOID:0112282 spondyloepiphyseal dysplasia Kimberley type semapv:UnspecifiedMatching MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch OMIM:608361 spondyloepiphyseal dysplasia, kimberley iia semapv:UnspecifiedMatching MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type semapv:UnspecifiedMatching MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch SCTID:719203001 semapv:UnspecifiedMatching MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch mesh:C564252 semapv:UnspecifiedMatching MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:exactMatch DOID:0060436 chromosome 22q11.2 microduplication syndrome semapv:UnspecifiedMatching MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:exactMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:UnspecifiedMatching MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:exactMatch Orphanet:1727 22q11.2 duplication syndrome semapv:UnspecifiedMatching MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:exactMatch SCTID:699311001 semapv:UnspecifiedMatching MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:exactMatch UMLS:C2675369 semapv:UnspecifiedMatching MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:exactMatch mesh:C567224 semapv:UnspecifiedMatching MONDO:0012021 myopia 17, autosomal dominant skos:exactMatch OMIM:608367 myopia 17, autosomal dominant semapv:UnspecifiedMatching MONDO:0012021 myopia 17, autosomal dominant skos:exactMatch UMLS:C3888211 semapv:UnspecifiedMatching MONDO:0012022 orofacial cleft 4 skos:exactMatch DOID:0080398 orofacial cleft 4 semapv:UnspecifiedMatching MONDO:0012022 orofacial cleft 4 skos:exactMatch OMIM:608371 orofacial cleft 4 semapv:UnspecifiedMatching MONDO:0012022 orofacial cleft 4 skos:exactMatch UMLS:C1842143 semapv:UnspecifiedMatching MONDO:0012022 orofacial cleft 4 skos:exactMatch mesh:C564251 semapv:UnspecifiedMatching MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:exactMatch DOID:0110572 autosomal dominant nonsyndromic deafness 49 semapv:UnspecifiedMatching MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:exactMatch OMIM:608372 deafness, autosomal dominant 49 semapv:UnspecifiedMatching MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:exactMatch UMLS:C1842136 semapv:UnspecifiedMatching MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:exactMatch mesh:C564250 semapv:UnspecifiedMatching MONDO:0012024 retinitis pigmentosa 26 skos:exactMatch DOID:0110368 retinitis pigmentosa 26 semapv:UnspecifiedMatching MONDO:0012024 retinitis pigmentosa 26 skos:exactMatch OMIM:608380 retinitis pigmentosa 26 semapv:UnspecifiedMatching MONDO:0012024 retinitis pigmentosa 26 skos:exactMatch UMLS:C1842127 semapv:UnspecifiedMatching MONDO:0012024 retinitis pigmentosa 26 skos:exactMatch mesh:C564249 semapv:UnspecifiedMatching MONDO:0012025 branchiootic syndrome 3 skos:exactMatch OMIM:608389 branchiootic syndrome 3 semapv:UnspecifiedMatching MONDO:0012025 branchiootic syndrome 3 skos:exactMatch UMLS:C1842124 semapv:UnspecifiedMatching MONDO:0012025 branchiootic syndrome 3 skos:exactMatch mesh:C564248 semapv:UnspecifiedMatching MONDO:0012027 autoimmune disease, susceptibility to, 2 skos:exactMatch OMIM:608391 autoimmune disease, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012028 autoimmune disease, susceptibility to, 3 skos:exactMatch OMIM:608392 autoimmune disease, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012029 microcephaly 6, primary, autosomal recessive skos:exactMatch DOID:0070290 primary autosomal recessive microcephaly 6 semapv:UnspecifiedMatching MONDO:0012029 microcephaly 6, primary, autosomal recessive skos:exactMatch OMIM:608393 microcephaly 6, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0012029 microcephaly 6, primary, autosomal recessive skos:exactMatch UMLS:C1842109 semapv:UnspecifiedMatching MONDO:0012029 microcephaly 6, primary, autosomal recessive skos:exactMatch mesh:C564247 semapv:UnspecifiedMatching MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:exactMatch DOID:0110568 autosomal dominant nonsyndromic deafness 43 semapv:UnspecifiedMatching MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:exactMatch OMIM:608394 deafness, autosomal dominant 43 semapv:UnspecifiedMatching MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:exactMatch UMLS:C1842108 semapv:UnspecifiedMatching MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:exactMatch mesh:C564246 semapv:UnspecifiedMatching MONDO:0012031 platelet-type bleeding disorder 10 skos:exactMatch DOID:0111046 platelet-type bleeding disorder 10 semapv:UnspecifiedMatching MONDO:0012031 platelet-type bleeding disorder 10 skos:exactMatch OMIM:608404 platelet glycoprotein 4 deficiency semapv:UnspecifiedMatching MONDO:0012031 platelet-type bleeding disorder 10 skos:exactMatch UMLS:C1842090 semapv:UnspecifiedMatching MONDO:0012031 platelet-type bleeding disorder 10 skos:exactMatch mesh:C564245 semapv:UnspecifiedMatching MONDO:0012032 Braddock syndrome skos:exactMatch OMIM:608406 vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency semapv:UnspecifiedMatching MONDO:0012032 Braddock syndrome skos:exactMatch Orphanet:52047 Braddock syndrome semapv:UnspecifiedMatching MONDO:0012032 Braddock syndrome skos:exactMatch SCTID:720575002 semapv:UnspecifiedMatching MONDO:0012032 Braddock syndrome skos:exactMatch UMLS:C1842082 semapv:UnspecifiedMatching MONDO:0012032 Braddock syndrome skos:exactMatch mesh:C564244 semapv:UnspecifiedMatching MONDO:0012033 bradyopsia skos:exactMatch DOID:0050335 bradyopsia semapv:UnspecifiedMatching MONDO:0012033 bradyopsia skos:exactMatch OMIMPS:608415 semapv:UnspecifiedMatching MONDO:0012033 bradyopsia skos:exactMatch Orphanet:75374 Bradyopsia semapv:UnspecifiedMatching MONDO:0012033 bradyopsia skos:exactMatch SCTID:711163009 semapv:UnspecifiedMatching MONDO:0012033 bradyopsia skos:exactMatch mesh:C564243 semapv:UnspecifiedMatching MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:exactMatch DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 semapv:UnspecifiedMatching MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:exactMatch OMIM:608423 muscular dystrophy, limb-girdle, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:exactMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:UnspecifiedMatching MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:exactMatch SCTID:719989007 semapv:UnspecifiedMatching MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:exactMatch mesh:C564242 semapv:UnspecifiedMatching MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:exactMatch OMIM:608432 craniosynostosis, calcification of basal ganglia, and facial dysmorphism semapv:UnspecifiedMatching MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:exactMatch Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome semapv:UnspecifiedMatching MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:exactMatch SCTID:720816004 semapv:UnspecifiedMatching MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:exactMatch UMLS:C1842058 semapv:UnspecifiedMatching MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:exactMatch mesh:C564241 semapv:UnspecifiedMatching MONDO:0012036 systemic lupus erythematosus, susceptibility to, 4 skos:exactMatch OMIM:608437 systemic lupus erythematosus, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012037 intellectual disability, autosomal recessive 3 skos:exactMatch DOID:0081179 autosomal recessive intellectual developmental disorder 3 semapv:UnspecifiedMatching MONDO:0012037 intellectual disability, autosomal recessive 3 skos:exactMatch OMIM:608443 intellectual developmental disorder, autosomal recessive 3 semapv:UnspecifiedMatching MONDO:0012037 intellectual disability, autosomal recessive 3 skos:exactMatch UMLS:C1838023 semapv:UnspecifiedMatching MONDO:0012037 intellectual disability, autosomal recessive 3 skos:exactMatch mesh:C563929 semapv:UnspecifiedMatching MONDO:0012038 speech-sound disorder skos:exactMatch OMIM:608445 speech-sound disorder semapv:UnspecifiedMatching MONDO:0012038 speech-sound disorder skos:exactMatch UMLS:C4019167 semapv:UnspecifiedMatching MONDO:0012038 speech-sound disorder skos:exactMatch mesh:C563928 semapv:UnspecifiedMatching MONDO:0012039 myocardial infarction, susceptibility to skos:exactMatch OMIM:608446 myocardial infarction, susceptibility to semapv:UnspecifiedMatching MONDO:0012040 inflammatory bowel disease 9 skos:exactMatch DOID:0110886 inflammatory bowel disease 9 semapv:UnspecifiedMatching MONDO:0012040 inflammatory bowel disease 9 skos:exactMatch OMIM:608448 inflammatory bowel disease 9 semapv:UnspecifiedMatching MONDO:0012040 inflammatory bowel disease 9 skos:exactMatch UMLS:C1838019 semapv:UnspecifiedMatching MONDO:0012040 inflammatory bowel disease 9 skos:exactMatch mesh:C563926 semapv:UnspecifiedMatching MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch DOID:0080410 familial adenomatous polyposis 2 semapv:UnspecifiedMatching MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch NCIT:C96520 MUTYH-Associated Polyposis semapv:UnspecifiedMatching MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch OMIM:608456 familial adenomatous polyposis 2 semapv:UnspecifiedMatching MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis semapv:UnspecifiedMatching MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch UMLS:C3272841 semapv:UnspecifiedMatching MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch mesh:C563924 semapv:UnspecifiedMatching MONDO:0012042 Hirschsprung disease, susceptibility to, 8 skos:exactMatch OMIM:608462 hirschsprung disease, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch DOID:0060453 Reis-Bucklers corneal dystrophy semapv:UnspecifiedMatching MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch OMIM:608470 corneal dystrophy, reis-bucklers iia semapv:UnspecifiedMatching MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:UnspecifiedMatching MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch SCTID:231930000 semapv:UnspecifiedMatching MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch UMLS:C0339278 semapv:UnspecifiedMatching MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch mesh:C535476 semapv:UnspecifiedMatching MONDO:0012044 corneal dystrophy, lattice type 3A skos:exactMatch OMIM:608471 corneal dystrophy, lattice iia 3a semapv:UnspecifiedMatching MONDO:0012044 corneal dystrophy, lattice type 3A skos:exactMatch UMLS:C1837974 semapv:UnspecifiedMatching MONDO:0012044 corneal dystrophy, lattice type 3A skos:exactMatch mesh:C563923 semapv:UnspecifiedMatching MONDO:0012045 myopia 5, autosomal dominant skos:exactMatch OMIM:608474 myopia 5, autosomal dominant semapv:UnspecifiedMatching MONDO:0012045 myopia 5, autosomal dominant skos:exactMatch UMLS:C1837972 semapv:UnspecifiedMatching MONDO:0012045 myopia 5, autosomal dominant skos:exactMatch mesh:C563922 semapv:UnspecifiedMatching MONDO:0012046 congenital corneal opacities, cornea guttata, and corectopia skos:exactMatch OMIM:608484 congenital corneal opacities, cornea guttata, and corectopia semapv:UnspecifiedMatching MONDO:0012046 congenital corneal opacities, cornea guttata, and corectopia skos:exactMatch UMLS:C1837970 semapv:UnspecifiedMatching MONDO:0012046 congenital corneal opacities, cornea guttata, and corectopia skos:exactMatch mesh:C563921 semapv:UnspecifiedMatching MONDO:0012047 alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia skos:exactMatch OMIM:608509 alopecia universalis congenita, 10y gonadal dysgenesis, and laryngomalacia semapv:UnspecifiedMatching MONDO:0012047 alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia skos:exactMatch UMLS:C1837946 semapv:UnspecifiedMatching MONDO:0012047 alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia skos:exactMatch mesh:C563920 semapv:UnspecifiedMatching MONDO:0012048 endogenous depression skos:exactMatch DOID:1595 melancholic depression semapv:UnspecifiedMatching MONDO:0012048 endogenous depression skos:exactMatch NCIT:C34532 Endogenous Depression semapv:UnspecifiedMatching MONDO:0012048 endogenous depression skos:exactMatch SCTID:300706003 semapv:UnspecifiedMatching MONDO:0012049 orofaciodigital syndrome VII skos:exactMatch DOID:0060377 orofaciodigital syndrome VII semapv:UnspecifiedMatching MONDO:0012049 orofaciodigital syndrome VII skos:exactMatch OMIM:608518 orofaciodigital syndrome 7 semapv:UnspecifiedMatching MONDO:0012049 orofaciodigital syndrome VII skos:exactMatch UMLS:C0796100 semapv:UnspecifiedMatching MONDO:0012049 orofaciodigital syndrome VII skos:exactMatch mesh:C563104 semapv:UnspecifiedMatching MONDO:0012050 major depressive disorder 1 skos:exactMatch OMIM:608520 major depressive disorder 1 semapv:UnspecifiedMatching MONDO:0012050 major depressive disorder 1 skos:exactMatch UMLS:C1837929 semapv:UnspecifiedMatching MONDO:0012050 major depressive disorder 1 skos:exactMatch mesh:C563919 semapv:UnspecifiedMatching MONDO:0012051 periodontitis, aggressive, 2 skos:exactMatch OMIM:608526 periodontitis, aggressive, 2 semapv:UnspecifiedMatching MONDO:0012051 periodontitis, aggressive, 2 skos:exactMatch UMLS:C1969478 semapv:UnspecifiedMatching MONDO:0012051 periodontitis, aggressive, 2 skos:exactMatch mesh:C566946 semapv:UnspecifiedMatching MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch DOID:0080563 congenital disorder of glycosylation Ik semapv:UnspecifiedMatching MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch OMIM:608540 congenital disorder of glycosylation, iia ik semapv:UnspecifiedMatching MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch Orphanet:79327 ALG1-CDG semapv:UnspecifiedMatching MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch SCTID:720941007 semapv:UnspecifiedMatching MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch UMLS:C2931005 semapv:UnspecifiedMatching MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch mesh:C535749 semapv:UnspecifiedMatching MONDO:0012053 aneurysm, intracranial berry, 2 skos:exactMatch DOID:0080965 intracranial berry aneurysm 2 semapv:UnspecifiedMatching MONDO:0012053 aneurysm, intracranial berry, 2 skos:exactMatch OMIM:608542 aneurysm, intracranial berry, 2 semapv:UnspecifiedMatching MONDO:0012053 aneurysm, intracranial berry, 2 skos:exactMatch UMLS:C1837894 semapv:UnspecifiedMatching MONDO:0012053 aneurysm, intracranial berry, 2 skos:exactMatch mesh:C536360 semapv:UnspecifiedMatching MONDO:0012054 schizophrenia 12 skos:exactMatch DOID:0070088 schizophrenia 12 semapv:UnspecifiedMatching MONDO:0012054 schizophrenia 12 skos:exactMatch OMIM:608543 schizophrenia 12 semapv:UnspecifiedMatching MONDO:0012054 schizophrenia 12 skos:exactMatch UMLS:C1837893 semapv:UnspecifiedMatching MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:exactMatch OMIM:608545 larsen-like syndrome semapv:UnspecifiedMatching MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:exactMatch Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome semapv:UnspecifiedMatching MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:exactMatch UMLS:C1837884 semapv:UnspecifiedMatching MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:exactMatch mesh:C563914 semapv:UnspecifiedMatching MONDO:0012056 Leber congenital amaurosis 9 skos:exactMatch DOID:0110005 Leber congenital amaurosis 9 semapv:UnspecifiedMatching MONDO:0012056 Leber congenital amaurosis 9 skos:exactMatch OMIM:608553 leber congenital amaurosis 9 semapv:UnspecifiedMatching MONDO:0012056 Leber congenital amaurosis 9 skos:exactMatch mesh:C536603 semapv:UnspecifiedMatching MONDO:0012057 legionnaire disease, susceptibility to skos:exactMatch OMIM:608556 legionnaire disease, susceptibility to semapv:UnspecifiedMatching MONDO:0012058 myocardial infarction, susceptibility to, 2 skos:exactMatch OMIM:608557 myocardial infarction, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012058 myocardial infarction, susceptibility to, 2 skos:exactMatch UMLS:C1837871 semapv:UnspecifiedMatching MONDO:0012059 polydactyly, postaxial, type A4 skos:exactMatch OMIM:608562 polydactyly, postaxial, iia a4 semapv:UnspecifiedMatching MONDO:0012059 polydactyly, postaxial, type A4 skos:exactMatch UMLS:C1837868 semapv:UnspecifiedMatching MONDO:0012059 polydactyly, postaxial, type A4 skos:exactMatch mesh:C563909 semapv:UnspecifiedMatching MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:exactMatch DOID:0110493 autosomal recessive nonsyndromic deafness 35 semapv:UnspecifiedMatching MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:exactMatch OMIM:608565 deafness, autosomal recessive 35 semapv:UnspecifiedMatching MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:exactMatch UMLS:C1837857 semapv:UnspecifiedMatching MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:exactMatch mesh:C563908 semapv:UnspecifiedMatching MONDO:0012061 familial sick sinus syndrome skos:exactMatch OMIMPS:608567 semapv:UnspecifiedMatching MONDO:0012061 familial sick sinus syndrome skos:exactMatch Orphanet:166282 Familial sick sinus syndrome semapv:UnspecifiedMatching MONDO:0012061 familial sick sinus syndrome skos:exactMatch SCTID:233913007 semapv:UnspecifiedMatching MONDO:0012061 familial sick sinus syndrome skos:exactMatch mesh:C563907 semapv:UnspecifiedMatching MONDO:0012062 dilated cardiomyopathy 1O skos:exactMatch DOID:0110451 dilated cardiomyopathy 1O semapv:UnspecifiedMatching MONDO:0012062 dilated cardiomyopathy 1O skos:exactMatch OMIM:608569 cardiomyopathy, dilated, 1o semapv:UnspecifiedMatching MONDO:0012062 dilated cardiomyopathy 1O skos:exactMatch UMLS:C1837839 semapv:UnspecifiedMatching MONDO:0012062 dilated cardiomyopathy 1O skos:exactMatch mesh:C563906 semapv:UnspecifiedMatching MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:exactMatch OMIM:608571 ulnar/fibular ray defect and brachydactyly semapv:UnspecifiedMatching MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:exactMatch Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome semapv:UnspecifiedMatching MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:exactMatch SCTID:719843001 semapv:UnspecifiedMatching MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:exactMatch mesh:C563905 semapv:UnspecifiedMatching MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:exactMatch DOID:0080695 Burn-McKeown syndrome semapv:UnspecifiedMatching MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:exactMatch OMIM:608572 burn-mckeown syndrome semapv:UnspecifiedMatching MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:exactMatch Orphanet:1200 Burn-McKeown syndrome semapv:UnspecifiedMatching MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:exactMatch UMLS:C1837822 semapv:UnspecifiedMatching MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:exactMatch mesh:C563682 semapv:UnspecifiedMatching MONDO:0012066 atrial fibrillation, familial, 1 skos:exactMatch OMIM:608583 atrial fibrillation, familial, 1 semapv:UnspecifiedMatching MONDO:0012066 atrial fibrillation, familial, 1 skos:exactMatch UMLS:C1843687 semapv:UnspecifiedMatching MONDO:0012066 atrial fibrillation, familial, 1 skos:exactMatch mesh:C538261 semapv:UnspecifiedMatching MONDO:0012067 asthma-related traits, susceptibility to, 2 skos:exactMatch OMIM:608584 asthma-related traits, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012067 asthma-related traits, susceptibility to, 2 skos:exactMatch UMLS:C1837811 semapv:UnspecifiedMatching MONDO:0012068 brachial palsy, familial congenital skos:exactMatch OMIM:608585 brachial palsy, familial congenital semapv:UnspecifiedMatching MONDO:0012068 brachial palsy, familial congenital skos:exactMatch UMLS:C1837810 semapv:UnspecifiedMatching MONDO:0012068 brachial palsy, familial congenital skos:exactMatch mesh:C563901 semapv:UnspecifiedMatching MONDO:0012069 keratoconus 3 skos:exactMatch OMIM:608586 keratoconus 3 semapv:UnspecifiedMatching MONDO:0012069 keratoconus 3 skos:exactMatch UMLS:C1837809 semapv:UnspecifiedMatching MONDO:0012069 keratoconus 3 skos:exactMatch mesh:C563900 semapv:UnspecifiedMatching MONDO:0012071 congenital generalized lipodystrophy type 1 skos:exactMatch DOID:0111135 congenital generalized lipodystrophy type 1 semapv:UnspecifiedMatching MONDO:0012071 congenital generalized lipodystrophy type 1 skos:exactMatch OMIM:608594 lipodystrophy, congenital generalized, iia 1 semapv:UnspecifiedMatching MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:exactMatch DOID:0070207 familial partial lipodystrophy type 1 semapv:UnspecifiedMatching MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:exactMatch OMIM:608600 lipodystrophy, familial partial, iia 1 semapv:UnspecifiedMatching MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:exactMatch Orphanet:79084 Familial partial lipodystrophy, Köbberling type semapv:UnspecifiedMatching MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:exactMatch SCTID:725035001 semapv:UnspecifiedMatching MONDO:0012073 ribose-5-P isomerase deficiency skos:exactMatch OMIM:608611 ribose 5-phosphate isomerase deficiency semapv:UnspecifiedMatching MONDO:0012073 ribose-5-P isomerase deficiency skos:exactMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:UnspecifiedMatching MONDO:0012073 ribose-5-P isomerase deficiency skos:exactMatch SCTID:124667004 semapv:UnspecifiedMatching MONDO:0012073 ribose-5-P isomerase deficiency skos:exactMatch UMLS:C1291609 semapv:UnspecifiedMatching MONDO:0012073 ribose-5-P isomerase deficiency skos:exactMatch mesh:C563212 semapv:UnspecifiedMatching MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:exactMatch DOID:0081129 mandibuloacral dysplasia type B lipodystrophy semapv:UnspecifiedMatching MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:exactMatch OMIM:608612 mandibuloacral dysplasia with iia B lipodystrophy semapv:UnspecifiedMatching MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:exactMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:UnspecifiedMatching MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:exactMatch UMLS:C1837756 semapv:UnspecifiedMatching MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:exactMatch mesh:C535706 semapv:UnspecifiedMatching MONDO:0012075 oligodontia-cancer predisposition syndrome skos:exactMatch OMIM:608615 oligodontia-colorectal cancer syndrome semapv:UnspecifiedMatching MONDO:0012075 oligodontia-cancer predisposition syndrome skos:exactMatch Orphanet:300576 Oligodontia-cancer predisposition syndrome semapv:UnspecifiedMatching MONDO:0012075 oligodontia-cancer predisposition syndrome skos:exactMatch UMLS:C1837750 semapv:UnspecifiedMatching MONDO:0012075 oligodontia-cancer predisposition syndrome skos:exactMatch mesh:C563898 semapv:UnspecifiedMatching MONDO:0012076 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia skos:exactMatch OMIM:608624 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia semapv:UnspecifiedMatching MONDO:0012076 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia skos:exactMatch UMLS:C1837730 semapv:UnspecifiedMatching MONDO:0012076 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia skos:exactMatch mesh:C563896 semapv:UnspecifiedMatching MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch DOID:0050752 amyotrophic lateral sclerosis type 8 semapv:UnspecifiedMatching MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch OMIM:608627 amyotrophic lateral sclerosis 8 semapv:UnspecifiedMatching MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch mesh:C563895 semapv:UnspecifiedMatching MONDO:0012078 Joubert syndrome 3 skos:exactMatch DOID:0110998 Joubert syndrome 3 semapv:UnspecifiedMatching MONDO:0012078 Joubert syndrome 3 skos:exactMatch NCIT:C148259 Joubert Syndrome 3 semapv:UnspecifiedMatching MONDO:0012078 Joubert syndrome 3 skos:exactMatch OMIM:608629 joubert syndrome 3 semapv:UnspecifiedMatching MONDO:0012078 Joubert syndrome 3 skos:exactMatch UMLS:C1837713 semapv:UnspecifiedMatching MONDO:0012078 Joubert syndrome 3 skos:exactMatch mesh:C536295 semapv:UnspecifiedMatching MONDO:0012079 asperger syndrome, susceptibility to, 2 skos:exactMatch OMIM:608631 asperger syndrome, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012079 asperger syndrome, susceptibility to, 2 skos:exactMatch UMLS:C1837697 semapv:UnspecifiedMatching MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:exactMatch DOID:0111207 distal hereditary motor neuronopathy type 2B semapv:UnspecifiedMatching MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:exactMatch OMIM:608634 neuronopathy, distal hereditary motor, autosomal dominant 3 semapv:UnspecifiedMatching MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:exactMatch UMLS:C2608087 semapv:UnspecifiedMatching MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:exactMatch mesh:C567084 semapv:UnspecifiedMatching MONDO:0012081 15q11q13 microduplication syndrome skos:exactMatch NCIT:C126692 Chromosome 15q11-q13 Duplication Syndrome semapv:UnspecifiedMatching MONDO:0012081 15q11q13 microduplication syndrome skos:exactMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:UnspecifiedMatching MONDO:0012081 15q11q13 microduplication syndrome skos:exactMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:UnspecifiedMatching MONDO:0012081 15q11q13 microduplication syndrome skos:exactMatch SCTID:719427001 semapv:UnspecifiedMatching MONDO:0012081 15q11q13 microduplication syndrome skos:exactMatch UMLS:C2675336 semapv:UnspecifiedMatching MONDO:0012082 asperger syndrome, susceptibility to, 1 skos:exactMatch OMIM:608638 asperger syndrome, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0012082 asperger syndrome, susceptibility to, 1 skos:exactMatch UMLS:C1837646 semapv:UnspecifiedMatching MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:exactMatch DOID:0110557 autosomal dominant nonsyndromic deafness 28 semapv:UnspecifiedMatching MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:exactMatch OMIM:608641 deafness, autosomal dominant 28 semapv:UnspecifiedMatching MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:exactMatch UMLS:C1837640 semapv:UnspecifiedMatching MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:exactMatch mesh:C563890 semapv:UnspecifiedMatching MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch DOID:0090123 aromatic L-amino acid decarboxylase deficiency semapv:UnspecifiedMatching MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch NCIT:C142085 Aromatic L-Amino-Acid Decarboxylase Deficiency semapv:UnspecifiedMatching MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch OMIM:608643 aromatic l-amino acid decarboxylase deficiency semapv:UnspecifiedMatching MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:UnspecifiedMatching MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch SCTID:237922009 semapv:UnspecifiedMatching MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch mesh:C537437 semapv:UnspecifiedMatching MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch DOID:0110599 primary ciliary dyskinesia 3 semapv:UnspecifiedMatching MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch NCIT:C172392 Primary Ciliary Dyskinesia 3 semapv:UnspecifiedMatching MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch OMIM:608644 ciliary dyskinesia, primary, 3 semapv:UnspecifiedMatching MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch UMLS:C1837618 semapv:UnspecifiedMatching MONDO:0012085 primary ciliary dyskinesia 3 skos:exactMatch mesh:C535278 semapv:UnspecifiedMatching MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:exactMatch DOID:0110561 autosomal dominant nonsyndromic deafness 31 semapv:UnspecifiedMatching MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:exactMatch OMIM:608645 deafness, autosomal dominant 31 semapv:UnspecifiedMatching MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:exactMatch UMLS:C1837617 semapv:UnspecifiedMatching MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:exactMatch mesh:C563888 semapv:UnspecifiedMatching MONDO:0012087 primary ciliary dyskinesia 4 skos:exactMatch DOID:0110614 primary ciliary dyskinesia 4 semapv:UnspecifiedMatching MONDO:0012087 primary ciliary dyskinesia 4 skos:exactMatch OMIM:608646 ciliary dyskinesia, primary, 4 semapv:UnspecifiedMatching MONDO:0012087 primary ciliary dyskinesia 4 skos:exactMatch UMLS:C1837616 semapv:UnspecifiedMatching MONDO:0012087 primary ciliary dyskinesia 4 skos:exactMatch mesh:C535279 semapv:UnspecifiedMatching MONDO:0012088 primary ciliary dyskinesia 5 skos:exactMatch DOID:0110617 primary ciliary dyskinesia 5 semapv:UnspecifiedMatching MONDO:0012088 primary ciliary dyskinesia 5 skos:exactMatch OMIM:608647 ciliary dyskinesia, primary, 5 semapv:UnspecifiedMatching MONDO:0012088 primary ciliary dyskinesia 5 skos:exactMatch UMLS:C1837615 semapv:UnspecifiedMatching MONDO:0012088 primary ciliary dyskinesia 5 skos:exactMatch mesh:C563886 semapv:UnspecifiedMatching MONDO:0012089 ichthyosis prematurity syndrome skos:exactMatch NCIT:C62590 Idiopathic Pneumonia Syndrome semapv:UnspecifiedMatching MONDO:0012089 ichthyosis prematurity syndrome skos:exactMatch OMIM:608649 ichthyosis prematurity syndrome semapv:UnspecifiedMatching MONDO:0012089 ichthyosis prematurity syndrome skos:exactMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:UnspecifiedMatching MONDO:0012089 ichthyosis prematurity syndrome skos:exactMatch SCTID:12381000132107 semapv:UnspecifiedMatching MONDO:0012089 ichthyosis prematurity syndrome skos:exactMatch UMLS:C1837610 semapv:UnspecifiedMatching MONDO:0012089 ichthyosis prematurity syndrome skos:exactMatch mesh:C536271 semapv:UnspecifiedMatching MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:exactMatch DOID:0110570 autosomal dominant nonsyndromic deafness 47 semapv:UnspecifiedMatching MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:exactMatch OMIM:608652 deafness, autosomal dominant 47 semapv:UnspecifiedMatching MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:exactMatch UMLS:C1837609 semapv:UnspecifiedMatching MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:exactMatch mesh:C563885 semapv:UnspecifiedMatching MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:exactMatch DOID:0110491 autosomal recessive nonsyndromic deafness 32 semapv:UnspecifiedMatching MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:exactMatch OMIM:608653 deafness, autosomal recessive 32, with or without immotile sperm semapv:UnspecifiedMatching MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:exactMatch UMLS:C1837608 semapv:UnspecifiedMatching MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:exactMatch mesh:C563884 semapv:UnspecifiedMatching MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:exactMatch DOID:0070145 hereditary sensory and autonomic neuropathy type 5 semapv:UnspecifiedMatching MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:exactMatch OMIM:608654 neuropathy, hereditary sensory and autonomic, iia 5 semapv:UnspecifiedMatching MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:exactMatch Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 semapv:UnspecifiedMatching MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:exactMatch SCTID:128206006 semapv:UnspecifiedMatching MONDO:0012093 prostate cancer, hereditary, 3 skos:exactMatch OMIM:608656 prostate cancer, hereditary, 3 semapv:UnspecifiedMatching MONDO:0012093 prostate cancer, hereditary, 3 skos:exactMatch UMLS:C1837595 semapv:UnspecifiedMatching MONDO:0012093 prostate cancer, hereditary, 3 skos:exactMatch mesh:C563883 semapv:UnspecifiedMatching MONDO:0012094 prostate cancer, hereditary, 4 skos:exactMatch OMIM:608658 prostate cancer, hereditary, 4 semapv:UnspecifiedMatching MONDO:0012094 prostate cancer, hereditary, 4 skos:exactMatch UMLS:C1837593 semapv:UnspecifiedMatching MONDO:0012094 prostate cancer, hereditary, 4 skos:exactMatch mesh:C563882 semapv:UnspecifiedMatching MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:exactMatch OMIM:608670 robin sequence with distinctive facial appearance and brachydactyly semapv:UnspecifiedMatching MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:exactMatch Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:UnspecifiedMatching MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:exactMatch UMLS:C1837564 semapv:UnspecifiedMatching MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:exactMatch mesh:C563880 semapv:UnspecifiedMatching MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:exactMatch DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L semapv:UnspecifiedMatching MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:exactMatch OMIM:608673 charcot-marie-tooth disease, axonal, iia 2l semapv:UnspecifiedMatching MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:exactMatch Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L semapv:UnspecifiedMatching MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:exactMatch SCTID:719513008 semapv:UnspecifiedMatching MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:exactMatch UMLS:C1837552 semapv:UnspecifiedMatching MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:exactMatch DOID:0112362 spondylocostal dysostosis 2 semapv:UnspecifiedMatching MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:exactMatch OMIM:608681 spondylocostal dysostosis 2, autosomal recessive semapv:UnspecifiedMatching MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:exactMatch UMLS:C1837549 semapv:UnspecifiedMatching MONDO:0012098 spinocerebellar ataxia type 20 skos:exactMatch DOID:0050971 spinocerebellar ataxia type 20 semapv:UnspecifiedMatching MONDO:0012098 spinocerebellar ataxia type 20 skos:exactMatch OMIM:608687 spinocerebellar ataxia 20 semapv:UnspecifiedMatching MONDO:0012098 spinocerebellar ataxia type 20 skos:exactMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:UnspecifiedMatching MONDO:0012098 spinocerebellar ataxia type 20 skos:exactMatch SCTID:718771009 semapv:UnspecifiedMatching MONDO:0012098 spinocerebellar ataxia type 20 skos:exactMatch UMLS:C1837541 semapv:UnspecifiedMatching MONDO:0012098 spinocerebellar ataxia type 20 skos:exactMatch mesh:C537199 semapv:UnspecifiedMatching MONDO:0012099 AICA-ribosiduria skos:exactMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:UnspecifiedMatching MONDO:0012099 AICA-ribosiduria skos:exactMatch Orphanet:250977 AICA-ribosiduria semapv:UnspecifiedMatching MONDO:0012099 AICA-ribosiduria skos:exactMatch SCTID:725289009 semapv:UnspecifiedMatching MONDO:0012099 AICA-ribosiduria skos:exactMatch UMLS:C1837530 semapv:UnspecifiedMatching MONDO:0012099 AICA-ribosiduria skos:exactMatch mesh:C563876 semapv:UnspecifiedMatching MONDO:0012100 major depressive disorder 2 skos:exactMatch OMIM:608691 major depressive disorder 2 semapv:UnspecifiedMatching MONDO:0012100 major depressive disorder 2 skos:exactMatch UMLS:C1837529 semapv:UnspecifiedMatching MONDO:0012100 major depressive disorder 2 skos:exactMatch mesh:C563875 semapv:UnspecifiedMatching MONDO:0012101 glaucoma 1, open angle, J skos:exactMatch OMIM:608695 glaucoma 1, open angle, j semapv:UnspecifiedMatching MONDO:0012101 glaucoma 1, open angle, J skos:exactMatch UMLS:C1837528 semapv:UnspecifiedMatching MONDO:0012101 glaucoma 1, open angle, J skos:exactMatch mesh:C563874 semapv:UnspecifiedMatching MONDO:0012102 glaucoma 1, open angle, K skos:exactMatch OMIM:608696 glaucoma 1, open angle, k semapv:UnspecifiedMatching MONDO:0012102 glaucoma 1, open angle, K skos:exactMatch UMLS:C1837527 semapv:UnspecifiedMatching MONDO:0012102 glaucoma 1, open angle, K skos:exactMatch mesh:C563873 semapv:UnspecifiedMatching MONDO:0012103 spinocerebellar ataxia type 25 skos:exactMatch DOID:0050974 spinocerebellar ataxia type 25 semapv:UnspecifiedMatching MONDO:0012103 spinocerebellar ataxia type 25 skos:exactMatch OMIM:608703 spinocerebellar ataxia 25 semapv:UnspecifiedMatching MONDO:0012103 spinocerebellar ataxia type 25 skos:exactMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:UnspecifiedMatching MONDO:0012103 spinocerebellar ataxia type 25 skos:exactMatch SCTID:718770005 semapv:UnspecifiedMatching MONDO:0012103 spinocerebellar ataxia type 25 skos:exactMatch UMLS:C1837518 semapv:UnspecifiedMatching MONDO:0012103 spinocerebellar ataxia type 25 skos:exactMatch mesh:C537202 semapv:UnspecifiedMatching MONDO:0012104 acquired partial lipodystrophy skos:exactMatch NCIT:C129723 Acquired Partial Lipodystrophy semapv:UnspecifiedMatching MONDO:0012104 acquired partial lipodystrophy skos:exactMatch Orphanet:79087 Acquired partial lipodystrophy semapv:UnspecifiedMatching MONDO:0012104 acquired partial lipodystrophy skos:exactMatch SCTID:75659004 semapv:UnspecifiedMatching MONDO:0012104 acquired partial lipodystrophy skos:exactMatch UMLS:C0220989 semapv:UnspecifiedMatching MONDO:0012104 acquired partial lipodystrophy skos:exactMatch mesh:C562448 semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch DOID:12132 granulomatosis with polyangiitis semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch ICD10CM:M31.3 Wegener's granulomatosis semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NCIT:C123111 Pauci-Immune Glomerulonephritis associated with Granulomatosis with Polyangiitis semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NCIT:C3444 Granulomatosis with Polyangiitis semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch OMIM:608710 granulomatosis with polyangiitis semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch Orphanet:900 Granulomatosis with polyangiitis semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch SCTID:195353004 semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch UMLS:C3495801 semapv:UnspecifiedMatching MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch mesh:D014890 semapv:UnspecifiedMatching MONDO:0012106 microcephaly 5, primary, autosomal recessive skos:exactMatch DOID:0070280 primary autosomal recessive microcephaly 5 semapv:UnspecifiedMatching MONDO:0012106 microcephaly 5, primary, autosomal recessive skos:exactMatch OMIM:608716 microcephaly 5, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0012106 microcephaly 5, primary, autosomal recessive skos:exactMatch UMLS:C1837501 semapv:UnspecifiedMatching MONDO:0012106 microcephaly 5, primary, autosomal recessive skos:exactMatch mesh:C563871 semapv:UnspecifiedMatching MONDO:0012107 neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia skos:exactMatch OMIM:608720 neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia semapv:UnspecifiedMatching MONDO:0012107 neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia skos:exactMatch UMLS:C1837492 semapv:UnspecifiedMatching MONDO:0012107 neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia skos:exactMatch mesh:C563870 semapv:UnspecifiedMatching MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:exactMatch OMIM:608728 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire iia semapv:UnspecifiedMatching MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:exactMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:UnspecifiedMatching MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:exactMatch SCTID:719166003 semapv:UnspecifiedMatching MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:exactMatch UMLS:C1837481 semapv:UnspecifiedMatching MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:exactMatch mesh:C563869 semapv:UnspecifiedMatching MONDO:0012109 hypertension, essential, susceptibility to, 4 skos:exactMatch OMIM:608742 hypertension, essential, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012109 hypertension, essential, susceptibility to, 4 skos:exactMatch UMLS:C1837479 semapv:UnspecifiedMatching MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:exactMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:UnspecifiedMatching MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:exactMatch Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency semapv:UnspecifiedMatching MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:exactMatch SCTID:724385009 semapv:UnspecifiedMatching MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:exactMatch UMLS:C1837475 semapv:UnspecifiedMatching MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:exactMatch mesh:C563867 semapv:UnspecifiedMatching MONDO:0012111 hypertrophic cardiomyopathy 8 skos:exactMatch DOID:0110314 hypertrophic cardiomyopathy 8 semapv:UnspecifiedMatching MONDO:0012111 hypertrophic cardiomyopathy 8 skos:exactMatch OMIM:608751 cardiomyopathy, familial hypertrophic, 8 semapv:UnspecifiedMatching MONDO:0012111 hypertrophic cardiomyopathy 8 skos:exactMatch UMLS:C1837471 semapv:UnspecifiedMatching MONDO:0012111 hypertrophic cardiomyopathy 8 skos:exactMatch mesh:C563866 semapv:UnspecifiedMatching MONDO:0012112 hypertrophic cardiomyopathy 10 skos:exactMatch DOID:0110316 hypertrophic cardiomyopathy 10 semapv:UnspecifiedMatching MONDO:0012112 hypertrophic cardiomyopathy 10 skos:exactMatch OMIM:608758 cardiomyopathy, familial hypertrophic, 10 semapv:UnspecifiedMatching MONDO:0012112 hypertrophic cardiomyopathy 10 skos:exactMatch UMLS:C1834460 semapv:UnspecifiedMatching MONDO:0012112 hypertrophic cardiomyopathy 10 skos:exactMatch mesh:C563865 semapv:UnspecifiedMatching MONDO:0012113 epilepsy, idiopathic generalized, susceptibility to, 3 skos:exactMatch DOID:0111318 idiopathic generalized epilepsy 3 semapv:UnspecifiedMatching MONDO:0012113 epilepsy, idiopathic generalized, susceptibility to, 3 skos:exactMatch OMIM:608762 epilepsy, idiopathic generalized, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012114 Ehlers-Danlos syndrome, Beasley-Cohen type skos:exactMatch OMIM:608763 ehlers-danlos syndrome, beasley-cohen iia semapv:UnspecifiedMatching MONDO:0012114 Ehlers-Danlos syndrome, Beasley-Cohen type skos:exactMatch UMLS:C1837462 semapv:UnspecifiedMatching MONDO:0012114 Ehlers-Danlos syndrome, Beasley-Cohen type skos:exactMatch mesh:C536199 semapv:UnspecifiedMatching MONDO:0012115 scoliosis, isolated, susceptibility to, 3 skos:exactMatch OMIM:608765 scoliosis, isolated, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012116 spinocerebellar ataxia type 8 skos:exactMatch DOID:0050959 spinocerebellar ataxia type 8 semapv:UnspecifiedMatching MONDO:0012116 spinocerebellar ataxia type 8 skos:exactMatch OMIM:608768 spinocerebellar ataxia 8 semapv:UnspecifiedMatching MONDO:0012116 spinocerebellar ataxia type 8 skos:exactMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:UnspecifiedMatching MONDO:0012116 spinocerebellar ataxia type 8 skos:exactMatch SCTID:715753001 semapv:UnspecifiedMatching MONDO:0012116 spinocerebellar ataxia type 8 skos:exactMatch UMLS:C1837454 semapv:UnspecifiedMatching MONDO:0012117 ALG9-congenital disorder of glycosylation skos:exactMatch DOID:0080564 congenital disorder of glycosylation Il semapv:UnspecifiedMatching MONDO:0012117 ALG9-congenital disorder of glycosylation skos:exactMatch OMIM:608776 congenital disorder of glycosylation, iia il semapv:UnspecifiedMatching MONDO:0012117 ALG9-congenital disorder of glycosylation skos:exactMatch Orphanet:79328 ALG9-CDG semapv:UnspecifiedMatching MONDO:0012117 ALG9-congenital disorder of glycosylation skos:exactMatch SCTID:720978005 semapv:UnspecifiedMatching MONDO:0012117 ALG9-congenital disorder of glycosylation skos:exactMatch UMLS:C2931006 semapv:UnspecifiedMatching MONDO:0012117 ALG9-congenital disorder of glycosylation skos:exactMatch mesh:C535750 semapv:UnspecifiedMatching MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch OMIM:608779 congenital disorder of glycosylation, iia iie semapv:UnspecifiedMatching MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch Orphanet:79333 COG7-CDG semapv:UnspecifiedMatching MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch SCTID:717773005 semapv:UnspecifiedMatching MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch mesh:C535754 semapv:UnspecifiedMatching MONDO:0012119 asperger syndrome, susceptibility to, 3 skos:exactMatch OMIM:608781 asperger syndrome, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012119 asperger syndrome, susceptibility to, 3 skos:exactMatch UMLS:C1837434 semapv:UnspecifiedMatching MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch OMIM:608782 pyruvate dehydrogenase phosphatase deficiency semapv:UnspecifiedMatching MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:UnspecifiedMatching MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch UMLS:C1837429 semapv:UnspecifiedMatching MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch mesh:C536258 semapv:UnspecifiedMatching MONDO:0012121 otosclerosis 5 skos:exactMatch OMIM:608787 otosclerosis 5 semapv:UnspecifiedMatching MONDO:0012121 otosclerosis 5 skos:exactMatch UMLS:C1837422 semapv:UnspecifiedMatching MONDO:0012121 otosclerosis 5 skos:exactMatch mesh:C563858 semapv:UnspecifiedMatching MONDO:0012122 moyamoya disease 3 skos:exactMatch OMIM:608796 moyamoya disease 3 semapv:UnspecifiedMatching MONDO:0012122 moyamoya disease 3 skos:exactMatch UMLS:C1837418 semapv:UnspecifiedMatching MONDO:0012122 moyamoya disease 3 skos:exactMatch mesh:C536993 semapv:UnspecifiedMatching MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch DOID:0080557 congenital disorder of glycosylation Ie semapv:UnspecifiedMatching MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch NCIT:C126871 Congenital Disorder of Glycosylation Type Ie semapv:UnspecifiedMatching MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch OMIM:608799 congenital disorder of glycosylation, iia ie semapv:UnspecifiedMatching MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch Orphanet:79322 DPM1-CDG semapv:UnspecifiedMatching MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch SCTID:725078006 semapv:UnspecifiedMatching MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch mesh:C535743 semapv:UnspecifiedMatching MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:exactMatch OMIM:608800 sudden infant death with dysgenesis of the testes syndrome semapv:UnspecifiedMatching MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:exactMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:UnspecifiedMatching MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:exactMatch UMLS:C1837371 semapv:UnspecifiedMatching MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:exactMatch mesh:C563856 semapv:UnspecifiedMatching MONDO:0012125 hypomyelinating leukodystrophy 2 skos:exactMatch DOID:0060787 hypomyelinating leukodystrophy 2 semapv:UnspecifiedMatching MONDO:0012125 hypomyelinating leukodystrophy 2 skos:exactMatch OMIM:608804 leukodystrophy, hypomyelinating, 2 semapv:UnspecifiedMatching MONDO:0012125 hypomyelinating leukodystrophy 2 skos:exactMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:UnspecifiedMatching MONDO:0012125 hypomyelinating leukodystrophy 2 skos:exactMatch UMLS:C1837355 semapv:UnspecifiedMatching MONDO:0012125 hypomyelinating leukodystrophy 2 skos:exactMatch mesh:C563855 semapv:UnspecifiedMatching MONDO:0012126 familial avascular necrosis of femoral head skos:exactMatch NCIT:C35480 Aseptic Necrosis of Femoral Head semapv:UnspecifiedMatching MONDO:0012126 familial avascular necrosis of femoral head skos:exactMatch OMIMPS:608805 semapv:UnspecifiedMatching MONDO:0012126 familial avascular necrosis of femoral head skos:exactMatch Orphanet:86820 Familial avascular necrosis of femoral head semapv:UnspecifiedMatching MONDO:0012126 familial avascular necrosis of femoral head skos:exactMatch SCTID:715657008 semapv:UnspecifiedMatching MONDO:0012126 familial avascular necrosis of femoral head skos:exactMatch UMLS:C4275066 semapv:UnspecifiedMatching MONDO:0012126 familial avascular necrosis of femoral head skos:exactMatch mesh:D005271 semapv:UnspecifiedMatching MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:exactMatch DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J semapv:UnspecifiedMatching MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:exactMatch OMIM:608807 muscular dystrophy, limb-girdle, autosomal recessive 10 semapv:UnspecifiedMatching MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:exactMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:UnspecifiedMatching MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:exactMatch UMLS:C1837342 semapv:UnspecifiedMatching MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:exactMatch mesh:C563854 semapv:UnspecifiedMatching MONDO:0012128 transposition of the great arteries, dextro-looped skos:exactMatch OMIM:608808 transposition of the great arteries, dextro-looped semapv:UnspecifiedMatching MONDO:0012128 transposition of the great arteries, dextro-looped skos:exactMatch UMLS:C1837341 semapv:UnspecifiedMatching MONDO:0012128 transposition of the great arteries, dextro-looped skos:exactMatch mesh:C563853 semapv:UnspecifiedMatching MONDO:0012129 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema skos:exactMatch OMIM:608809 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema semapv:UnspecifiedMatching MONDO:0012129 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema skos:exactMatch UMLS:C1837329 semapv:UnspecifiedMatching MONDO:0012129 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema skos:exactMatch mesh:C563852 semapv:UnspecifiedMatching MONDO:0012130 myofibrillar myopathy 2 skos:exactMatch DOID:0080093 myofibrillar myopathy 2 semapv:UnspecifiedMatching MONDO:0012130 myofibrillar myopathy 2 skos:exactMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:UnspecifiedMatching MONDO:0012130 myofibrillar myopathy 2 skos:exactMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:UnspecifiedMatching MONDO:0012130 myofibrillar myopathy 2 skos:exactMatch UMLS:C1837317 semapv:UnspecifiedMatching MONDO:0012130 myofibrillar myopathy 2 skos:exactMatch mesh:C563848 semapv:UnspecifiedMatching MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:exactMatch OMIM:608811 metaphyseal undermodeling, spondylar dysplasia, and overgrowth semapv:UnspecifiedMatching MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:exactMatch Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome semapv:UnspecifiedMatching MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:exactMatch UMLS:C1837316 semapv:UnspecifiedMatching MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:exactMatch mesh:C537355 semapv:UnspecifiedMatching MONDO:0012132 colorectal cancer, susceptibility to, 1 skos:exactMatch OMIM:608812 colorectal cancer, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0012133 lateral semicircular canal malformation, familial, with external and middle ear abnormalities skos:exactMatch OMIM:608814 lateral semicircular canal malformation, familial, with external and middle ear abnormalities semapv:UnspecifiedMatching MONDO:0012133 lateral semicircular canal malformation, familial, with external and middle ear abnormalities skos:exactMatch UMLS:C1837314 semapv:UnspecifiedMatching MONDO:0012133 lateral semicircular canal malformation, familial, with external and middle ear abnormalities skos:exactMatch mesh:C537879 semapv:UnspecifiedMatching MONDO:0012134 myoclonic epilepsy, juvenile, susceptibility to, 3 skos:exactMatch DOID:0111326 juvenile myoclonic epilepsy 3 semapv:UnspecifiedMatching MONDO:0012134 myoclonic epilepsy, juvenile, susceptibility to, 3 skos:exactMatch OMIM:608816 myoclonic epilepsy, juvenile, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012134 myoclonic epilepsy, juvenile, susceptibility to, 3 skos:exactMatch UMLS:C1837308 semapv:UnspecifiedMatching MONDO:0012135 restless legs syndrome, susceptibility to, 2 skos:exactMatch OMIM:608831 restless legs syndrome, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012135 restless legs syndrome, susceptibility to, 2 skos:exactMatch UMLS:C1837285 semapv:UnspecifiedMatching MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:exactMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:UnspecifiedMatching MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:exactMatch Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form semapv:UnspecifiedMatching MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:exactMatch UMLS:C1833518 semapv:UnspecifiedMatching MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:exactMatch mesh:C563463 semapv:UnspecifiedMatching MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:exactMatch OMIM:608837 carney complex variant semapv:UnspecifiedMatching MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:exactMatch Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome semapv:UnspecifiedMatching MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:exactMatch DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 semapv:UnspecifiedMatching MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:exactMatch OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 semapv:UnspecifiedMatching MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:exactMatch UMLS:C1837229 semapv:UnspecifiedMatching MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:exactMatch mesh:C563844 semapv:UnspecifiedMatching MONDO:0012139 macular dystrophy, retinal, 3 skos:exactMatch OMIM:608850 macular dystrophy, retinal, 3 semapv:UnspecifiedMatching MONDO:0012139 macular dystrophy, retinal, 3 skos:exactMatch UMLS:C3888009 semapv:UnspecifiedMatching MONDO:0012140 obsolete pulmonary function skos:exactMatch OMIM:608852 pulmonary function semapv:UnspecifiedMatching MONDO:0012141 orofacial cleft 6, susceptibility to skos:exactMatch DOID:0080593 orofacial cleft 6 semapv:UnspecifiedMatching MONDO:0012141 orofacial cleft 6, susceptibility to skos:exactMatch OMIM:608864 orofacial cleft 6, susceptibility to semapv:UnspecifiedMatching MONDO:0012142 orofacial cleft 5 skos:exactMatch DOID:0080399 orofacial cleft 5 semapv:UnspecifiedMatching MONDO:0012142 orofacial cleft 5 skos:exactMatch OMIM:608874 orofacial cleft 5 semapv:UnspecifiedMatching MONDO:0012142 orofacial cleft 5 skos:exactMatch UMLS:C1837210 semapv:UnspecifiedMatching MONDO:0012142 orofacial cleft 5 skos:exactMatch mesh:C563843 semapv:UnspecifiedMatching MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:exactMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:UnspecifiedMatching MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:exactMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:UnspecifiedMatching MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:exactMatch UMLS:C1837206 semapv:UnspecifiedMatching MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:exactMatch mesh:C563840 semapv:UnspecifiedMatching MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch DOID:0110952 obsolete Waardenburg syndrome type 2D semapv:UnspecifiedMatching MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch OMIM:608890 semapv:UnspecifiedMatching MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch UMLS:C1837203 semapv:UnspecifiedMatching MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch mesh:C563839 semapv:UnspecifiedMatching MONDO:0012145 macular degeneration, age-related, 3 skos:exactMatch OMIM:608895 macular degeneration, age-related, 3 semapv:UnspecifiedMatching MONDO:0012145 macular degeneration, age-related, 3 skos:exactMatch UMLS:C1837187 semapv:UnspecifiedMatching MONDO:0012145 macular degeneration, age-related, 3 skos:exactMatch mesh:C563838 semapv:UnspecifiedMatching MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:exactMatch DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 semapv:UnspecifiedMatching MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:exactMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:UnspecifiedMatching MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:exactMatch mesh:C537251 semapv:UnspecifiedMatching MONDO:0012147 coronary heart disease, susceptibility to, 5 skos:exactMatch OMIM:608901 coronary heart disease, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related skos:exactMatch OMIM:608902 drug metabolism, poor, cyp2d6-related semapv:UnspecifiedMatching MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related skos:exactMatch UMLS:C1837154 semapv:UnspecifiedMatching MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related skos:exactMatch mesh:C563835 semapv:UnspecifiedMatching MONDO:0012149 attention deficit-hyperactivity disorder, susceptibility to, 1 skos:exactMatch OMIM:608903 attention deficit-hyperactivity disorder, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0012150 attention deficit-hyperactivity disorder, susceptibility to, 2 skos:exactMatch OMIM:608904 attention deficit-hyperactivity disorder, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012151 attention deficit-hyperactivity disorder, susceptibility to, 3 skos:exactMatch OMIM:608905 attention deficit-hyperactivity disorder, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012152 attention deficit-hyperactivity disorder, susceptibility to, 4 skos:exactMatch OMIM:608906 attention deficit-hyperactivity disorder, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012153 Alzheimer disease 9 skos:exactMatch DOID:0111364 Alzheimer's disease 9 semapv:UnspecifiedMatching MONDO:0012153 Alzheimer disease 9 skos:exactMatch OMIM:608907 alzheimer disease 9, susceptibility to semapv:UnspecifiedMatching MONDO:0012153 Alzheimer disease 9 skos:exactMatch UMLS:C4282179 semapv:UnspecifiedMatching MONDO:0012153 Alzheimer disease 9 skos:exactMatch mesh:C563834 semapv:UnspecifiedMatching MONDO:0012154 myopia 6 skos:exactMatch OMIM:608908 myopia 6 semapv:UnspecifiedMatching MONDO:0012154 myopia 6 skos:exactMatch mesh:C536105 semapv:UnspecifiedMatching MONDO:0012155 choanal atresia skos:exactMatch DOID:9574 choanal atresia semapv:UnspecifiedMatching MONDO:0012155 choanal atresia skos:exactMatch ICD10CM:Q30.0 Choanal atresia semapv:UnspecifiedMatching MONDO:0012155 choanal atresia skos:exactMatch OMIM:608911 choanal atresia, posterior semapv:UnspecifiedMatching MONDO:0012155 choanal atresia skos:exactMatch Orphanet:137914 Choanal atresia semapv:UnspecifiedMatching MONDO:0012155 choanal atresia skos:exactMatch SCTID:204508009 semapv:UnspecifiedMatching MONDO:0012155 choanal atresia skos:exactMatch mesh:D002754 semapv:UnspecifiedMatching MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:exactMatch DOID:0110662 congenital myasthenic syndrome 1B semapv:UnspecifiedMatching MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:exactMatch OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel semapv:UnspecifiedMatching MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:exactMatch UMLS:C4225405 semapv:UnspecifiedMatching MONDO:0012157 congenital myasthenic syndrome 4C skos:exactMatch DOID:0110679 congenital myasthenic syndrome 4C semapv:UnspecifiedMatching MONDO:0012157 congenital myasthenic syndrome 4C skos:exactMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:UnspecifiedMatching MONDO:0012158 keratoconus 2 skos:exactMatch OMIM:608932 keratoconus 2 semapv:UnspecifiedMatching MONDO:0012158 keratoconus 2 skos:exactMatch UMLS:C1837090 semapv:UnspecifiedMatching MONDO:0012158 keratoconus 2 skos:exactMatch mesh:C563827 semapv:UnspecifiedMatching MONDO:0012159 lung cancer susceptibility 1 skos:exactMatch OMIM:608935 lung cancer susceptibility 1 semapv:UnspecifiedMatching MONDO:0012159 lung cancer susceptibility 1 skos:exactMatch UMLS:C1837089 semapv:UnspecifiedMatching MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:UnspecifiedMatching MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch OMIM:608940 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:UnspecifiedMatching MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:UnspecifiedMatching MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch UMLS:C1837073 semapv:UnspecifiedMatching MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch mesh:C563825 semapv:UnspecifiedMatching MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch OMIM:608957 immunodeficiency 116 semapv:UnspecifiedMatching MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:UnspecifiedMatching MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch SCTID:766983005 semapv:UnspecifiedMatching MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch UMLS:C1837065 semapv:UnspecifiedMatching MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch mesh:C563824 semapv:UnspecifiedMatching MONDO:0012162 patterned macular dystrophy 2 skos:exactMatch DOID:0060864 patterned macular dystrophy 2 semapv:UnspecifiedMatching MONDO:0012162 patterned macular dystrophy 2 skos:exactMatch OMIM:608970 macular dystrophy, patterned, 2 semapv:UnspecifiedMatching MONDO:0012162 patterned macular dystrophy 2 skos:exactMatch UMLS:C1837029 semapv:UnspecifiedMatching MONDO:0012163 immunodeficiency 104 skos:exactMatch DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive semapv:UnspecifiedMatching MONDO:0012163 immunodeficiency 104 skos:exactMatch OMIM:608971 immunodeficiency 104 semapv:UnspecifiedMatching MONDO:0012163 immunodeficiency 104 skos:exactMatch UMLS:C5676890 semapv:UnspecifiedMatching MONDO:0012163 immunodeficiency 104 skos:exactMatch mesh:C563822 semapv:UnspecifiedMatching MONDO:0012164 Meacham syndrome skos:exactMatch OMIM:608978 meacham syndrome semapv:UnspecifiedMatching MONDO:0012164 Meacham syndrome skos:exactMatch Orphanet:3097 Meacham syndrome semapv:UnspecifiedMatching MONDO:0012164 Meacham syndrome skos:exactMatch SCTID:722461004 semapv:UnspecifiedMatching MONDO:0012164 Meacham syndrome skos:exactMatch UMLS:C1837026 semapv:UnspecifiedMatching MONDO:0012164 Meacham syndrome skos:exactMatch mesh:C538162 semapv:UnspecifiedMatching MONDO:0012165 BNAR syndrome skos:exactMatch OMIM:608980 bifid nose with or without anorectal and renal anomalies semapv:UnspecifiedMatching MONDO:0012165 BNAR syndrome skos:exactMatch Orphanet:217266 BNAR syndrome semapv:UnspecifiedMatching MONDO:0012165 BNAR syndrome skos:exactMatch SCTID:717940006 semapv:UnspecifiedMatching MONDO:0012165 BNAR syndrome skos:exactMatch UMLS:C2750433 semapv:UnspecifiedMatching MONDO:0012165 BNAR syndrome skos:exactMatch mesh:C567672 semapv:UnspecifiedMatching MONDO:0012166 autosomal dominant sensory ataxia 1 skos:exactMatch DOID:0111170 autosomal dominant sensory ataxia 1 semapv:UnspecifiedMatching MONDO:0012166 autosomal dominant sensory ataxia 1 skos:exactMatch OMIM:608984 ataxia, sensory, 1, autosomal dominant semapv:UnspecifiedMatching MONDO:0012166 autosomal dominant sensory ataxia 1 skos:exactMatch UMLS:C1837015 semapv:UnspecifiedMatching MONDO:0012167 atrial fibrillation, familial, 2 skos:exactMatch OMIM:608988 atrial fibrillation, familial, 2 semapv:UnspecifiedMatching MONDO:0012167 atrial fibrillation, familial, 2 skos:exactMatch UMLS:C1837812 semapv:UnspecifiedMatching MONDO:0012167 atrial fibrillation, familial, 2 skos:exactMatch mesh:C563903 semapv:UnspecifiedMatching MONDO:0012168 dyslexia, susceptibility to, 8 skos:exactMatch OMIM:608995 dyslexia, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012169 premature ovarian failure 3 skos:exactMatch DOID:0080860 primary ovarian insufficiency 3 semapv:UnspecifiedMatching MONDO:0012169 premature ovarian failure 3 skos:exactMatch OMIM:608996 premature ovarian failure 3 semapv:UnspecifiedMatching MONDO:0012169 premature ovarian failure 3 skos:exactMatch UMLS:C1837008 semapv:UnspecifiedMatching MONDO:0012169 premature ovarian failure 3 skos:exactMatch mesh:C563816 semapv:UnspecifiedMatching MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:exactMatch DOID:0110494 autosomal recessive nonsyndromic deafness 36 semapv:UnspecifiedMatching MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:exactMatch OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement semapv:UnspecifiedMatching MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:exactMatch mesh:C563815 semapv:UnspecifiedMatching MONDO:0012171 marfanoid habitus with situs inversus skos:exactMatch OMIM:609008 marfanoid habitus with situs inversus semapv:UnspecifiedMatching MONDO:0012171 marfanoid habitus with situs inversus skos:exactMatch UMLS:C1836994 semapv:UnspecifiedMatching MONDO:0012171 marfanoid habitus with situs inversus skos:exactMatch mesh:C563814 semapv:UnspecifiedMatching MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch DOID:0111277 mitochondrial trifunctional protein deficiency semapv:UnspecifiedMatching MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch NCIT:C98991 Mitochondrial Trifunctional Protein Deficiency semapv:UnspecifiedMatching MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch OMIMPS:609015 semapv:UnspecifiedMatching MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:UnspecifiedMatching MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch SCTID:237999008 semapv:UnspecifiedMatching MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch mesh:C566945 semapv:UnspecifiedMatching MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C129929 Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:609016 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch SCTID:726021008 semapv:UnspecifiedMatching MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C3711645 semapv:UnspecifiedMatching MONDO:0012174 peripheral cone dystrophy skos:exactMatch OMIM:609021 peripheral cone dystrophy semapv:UnspecifiedMatching MONDO:0012174 peripheral cone dystrophy skos:exactMatch UMLS:C1836946 semapv:UnspecifiedMatching MONDO:0012174 peripheral cone dystrophy skos:exactMatch mesh:C563813 semapv:UnspecifiedMatching MONDO:0012175 cataract 28 skos:exactMatch DOID:0110244 cataract 28 semapv:UnspecifiedMatching MONDO:0012175 cataract 28 skos:exactMatch OMIM:609026 cataract 28 semapv:UnspecifiedMatching MONDO:0012175 cataract 28 skos:exactMatch UMLS:C1836942 semapv:UnspecifiedMatching MONDO:0012175 cataract 28 skos:exactMatch mesh:C563812 semapv:UnspecifiedMatching MONDO:0012176 Emanuel syndrome skos:exactMatch OMIM:609029 emanuel syndrome semapv:UnspecifiedMatching MONDO:0012176 Emanuel syndrome skos:exactMatch Orphanet:96170 Emanuel syndrome semapv:UnspecifiedMatching MONDO:0012176 Emanuel syndrome skos:exactMatch SCTID:702417004 semapv:UnspecifiedMatching MONDO:0012176 Emanuel syndrome skos:exactMatch UMLS:C1836929 semapv:UnspecifiedMatching MONDO:0012176 Emanuel syndrome skos:exactMatch mesh:C535733 semapv:UnspecifiedMatching MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:exactMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:UnspecifiedMatching MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:exactMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:UnspecifiedMatching MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:exactMatch SCTID:724065003 semapv:UnspecifiedMatching MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:exactMatch UMLS:C1836916 semapv:UnspecifiedMatching MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:exactMatch mesh:C536343 semapv:UnspecifiedMatching MONDO:0012178 intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature skos:exactMatch OMIM:609037 mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature semapv:UnspecifiedMatching MONDO:0012178 intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature skos:exactMatch UMLS:C1836915 semapv:UnspecifiedMatching MONDO:0012178 intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature skos:exactMatch mesh:C563810 semapv:UnspecifiedMatching MONDO:0012179 narcolepsy 3 skos:exactMatch OMIM:609039 narcolepsy 3 semapv:UnspecifiedMatching MONDO:0012179 narcolepsy 3 skos:exactMatch UMLS:C1836907 semapv:UnspecifiedMatching MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:exactMatch DOID:0110077 arrhythmogenic right ventricular dysplasia 9 semapv:UnspecifiedMatching MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:exactMatch OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 semapv:UnspecifiedMatching MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:exactMatch UMLS:C1836906 semapv:UnspecifiedMatching MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:exactMatch mesh:C563808 semapv:UnspecifiedMatching MONDO:0012181 hereditary spastic paraplegia 27 skos:exactMatch DOID:0110778 hereditary spastic paraplegia 27 semapv:UnspecifiedMatching MONDO:0012181 hereditary spastic paraplegia 27 skos:exactMatch OMIM:609041 spastic paraplegia 27, autosomal recessive semapv:UnspecifiedMatching MONDO:0012181 hereditary spastic paraplegia 27 skos:exactMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:UnspecifiedMatching MONDO:0012181 hereditary spastic paraplegia 27 skos:exactMatch UMLS:C1836899 semapv:UnspecifiedMatching MONDO:0012181 hereditary spastic paraplegia 27 skos:exactMatch mesh:C563807 semapv:UnspecifiedMatching MONDO:0012182 skeletal dysplasia, rhizomelic, with retinitis pigmentosa skos:exactMatch OMIM:609047 skeletal dysplasia, rhizomelic, with retinitis pigmentosa semapv:UnspecifiedMatching MONDO:0012182 skeletal dysplasia, rhizomelic, with retinitis pigmentosa skos:exactMatch UMLS:C1836898 semapv:UnspecifiedMatching MONDO:0012182 skeletal dysplasia, rhizomelic, with retinitis pigmentosa skos:exactMatch mesh:C563806 semapv:UnspecifiedMatching MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 skos:exactMatch OMIM:609048 melanoma, cutaneous malignant, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012184 Pierson syndrome skos:exactMatch DOID:0060852 Pierson syndrome semapv:UnspecifiedMatching MONDO:0012184 Pierson syndrome skos:exactMatch NCIT:C128145 Pierson Syndrome semapv:UnspecifiedMatching MONDO:0012184 Pierson syndrome skos:exactMatch OMIM:609049 pierson syndrome semapv:UnspecifiedMatching MONDO:0012184 Pierson syndrome skos:exactMatch Orphanet:2670 Pierson syndrome semapv:UnspecifiedMatching MONDO:0012184 Pierson syndrome skos:exactMatch SCTID:723449004 semapv:UnspecifiedMatching MONDO:0012184 Pierson syndrome skos:exactMatch UMLS:C1836876 semapv:UnspecifiedMatching MONDO:0012184 Pierson syndrome skos:exactMatch mesh:C537185 semapv:UnspecifiedMatching MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:exactMatch DOID:0112301 spondylometaphyseal dysplasia type A4 semapv:UnspecifiedMatching MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:exactMatch OMIM:609052 spondylometaphyseal dysplasia, iia a4 semapv:UnspecifiedMatching MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:exactMatch Orphanet:168555 Spondylometaphyseal dysplasia, A4 type semapv:UnspecifiedMatching MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:exactMatch UMLS:C1836862 semapv:UnspecifiedMatching MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:exactMatch mesh:C563803 semapv:UnspecifiedMatching MONDO:0012186 Fanconi anemia complementation group I skos:exactMatch DOID:0111091 Fanconi anemia complementation group I semapv:UnspecifiedMatching MONDO:0012186 Fanconi anemia complementation group I skos:exactMatch NCIT:C129026 Fanconi Anemia, Complementation Group I semapv:UnspecifiedMatching MONDO:0012186 Fanconi anemia complementation group I skos:exactMatch OMIM:609053 fanconi anemia, complementation group 1 semapv:UnspecifiedMatching MONDO:0012186 Fanconi anemia complementation group I skos:exactMatch UMLS:C1836861 semapv:UnspecifiedMatching MONDO:0012186 Fanconi anemia complementation group I skos:exactMatch mesh:C563802 semapv:UnspecifiedMatching MONDO:0012187 Fanconi anemia complementation group J skos:exactMatch DOID:0111097 Fanconi anemia complementation group J semapv:UnspecifiedMatching MONDO:0012187 Fanconi anemia complementation group J skos:exactMatch NCIT:C129027 Fanconi Anemia, Complementation Group J semapv:UnspecifiedMatching MONDO:0012187 Fanconi anemia complementation group J skos:exactMatch OMIM:609054 fanconi anemia, complementation group j semapv:UnspecifiedMatching MONDO:0012187 Fanconi anemia complementation group J skos:exactMatch UMLS:C1836860 semapv:UnspecifiedMatching MONDO:0012187 Fanconi anemia complementation group J skos:exactMatch mesh:C563801 semapv:UnspecifiedMatching MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:exactMatch DOID:0110733 neuronal ceroid lipofuscinosis 9 semapv:UnspecifiedMatching MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:exactMatch OMIM:609055 ceroid lipofuscinosis, neuronal, 9 semapv:UnspecifiedMatching MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:exactMatch Orphanet:228357 OBSOLETE: CLN9 disease semapv:UnspecifiedMatching MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:exactMatch mesh:C537953 semapv:UnspecifiedMatching MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness skos:exactMatch OMIM:609057 epidermolysis bullosa simplex 7, with nephropathy and deafness semapv:UnspecifiedMatching MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness skos:exactMatch Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome semapv:UnspecifiedMatching MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness skos:exactMatch UMLS:C1836823 semapv:UnspecifiedMatching MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness skos:exactMatch mesh:C563798 semapv:UnspecifiedMatching MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch DOID:0111474 combined oxidative phosphorylation deficiency 1 semapv:UnspecifiedMatching MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch NCIT:C125663 Combined Oxidative Phosphorylation Deficiency 1 semapv:UnspecifiedMatching MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch OMIM:609060 combined oxidative phosphorylation deficiency 1 semapv:UnspecifiedMatching MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:UnspecifiedMatching MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch SCTID:764962002 semapv:UnspecifiedMatching MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch UMLS:C1836797 semapv:UnspecifiedMatching MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch mesh:C563797 semapv:UnspecifiedMatching MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:exactMatch OMIM:609069 pancreatic and cerebellar agenesis semapv:UnspecifiedMatching MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:exactMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:UnspecifiedMatching MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:exactMatch UMLS:C1836780 semapv:UnspecifiedMatching MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:exactMatch mesh:C563796 semapv:UnspecifiedMatching MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:exactMatch DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 semapv:UnspecifiedMatching MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:exactMatch OMIM:609115 muscular dystrophy, limb-girdle, autosomal dominant 3 semapv:UnspecifiedMatching MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:exactMatch Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 semapv:UnspecifiedMatching MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:exactMatch SCTID:719990003 semapv:UnspecifiedMatching MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:exactMatch mesh:C563794 semapv:UnspecifiedMatching MONDO:0012194 aneurysm, intracranial berry, 3 skos:exactMatch DOID:0080966 intracranial berry aneurysm 3 semapv:UnspecifiedMatching MONDO:0012194 aneurysm, intracranial berry, 3 skos:exactMatch OMIM:609122 aneurysm, intracranial berry, 3 semapv:UnspecifiedMatching MONDO:0012194 aneurysm, intracranial berry, 3 skos:exactMatch UMLS:C1836757 semapv:UnspecifiedMatching MONDO:0012194 aneurysm, intracranial berry, 3 skos:exactMatch mesh:C563792 semapv:UnspecifiedMatching MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch DOID:0111610 distal arthrogryposis type 4 semapv:UnspecifiedMatching MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch OMIM:609128 arthrogryposis, distal, iia 4 semapv:UnspecifiedMatching MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch Orphanet:65720 Arthrogryposis-severe scoliosis syndrome semapv:UnspecifiedMatching MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch SCTID:715575001 semapv:UnspecifiedMatching MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch UMLS:C1836756 semapv:UnspecifiedMatching MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch mesh:C563791 semapv:UnspecifiedMatching MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:exactMatch DOID:0060690 autosomal dominant auditory neuropathy 1 semapv:UnspecifiedMatching MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:exactMatch OMIM:609129 auditory neuropathy, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:exactMatch UMLS:C1836743 semapv:UnspecifiedMatching MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:exactMatch mesh:C563790 semapv:UnspecifiedMatching MONDO:0012197 idiopathic aplastic anemia skos:exactMatch ICD10CM:D61.3 Idiopathic aplastic anemia semapv:UnspecifiedMatching MONDO:0012197 idiopathic aplastic anemia skos:exactMatch NCIT:C61230 Idiopathic Aplastic Anemia semapv:UnspecifiedMatching MONDO:0012197 idiopathic aplastic anemia skos:exactMatch OMIM:609135 aplastic anemia semapv:UnspecifiedMatching MONDO:0012197 idiopathic aplastic anemia skos:exactMatch Orphanet:88 Idiopathic aplastic anemia semapv:UnspecifiedMatching MONDO:0012197 idiopathic aplastic anemia skos:exactMatch SCTID:191256002 semapv:UnspecifiedMatching MONDO:0012197 idiopathic aplastic anemia skos:exactMatch UMLS:C0348890 semapv:UnspecifiedMatching MONDO:0012197 idiopathic aplastic anemia skos:exactMatch mesh:C538494 semapv:UnspecifiedMatching MONDO:0012198 PCWH syndrome skos:exactMatch DOID:0090111 PCWH syndrome semapv:UnspecifiedMatching MONDO:0012198 PCWH syndrome skos:exactMatch OMIM:609136 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease semapv:UnspecifiedMatching MONDO:0012198 PCWH syndrome skos:exactMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:UnspecifiedMatching MONDO:0012198 PCWH syndrome skos:exactMatch UMLS:C1836727 semapv:UnspecifiedMatching MONDO:0012198 PCWH syndrome skos:exactMatch mesh:C563789 semapv:UnspecifiedMatching MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:exactMatch DOID:0110856 posterior polymorphous corneal dystrophy 2 semapv:UnspecifiedMatching MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:exactMatch OMIM:609140 corneal dystrophy, posterior polymorphous, 2 semapv:UnspecifiedMatching MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:exactMatch UMLS:C1852795 semapv:UnspecifiedMatching MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:exactMatch mesh:C565176 semapv:UnspecifiedMatching MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:exactMatch DOID:0110857 posterior polymorphous corneal dystrophy 3 semapv:UnspecifiedMatching MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:exactMatch OMIM:609141 corneal dystrophy, posterior polymorphous, 3 semapv:UnspecifiedMatching MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:exactMatch UMLS:C1836724 semapv:UnspecifiedMatching MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:exactMatch mesh:C563788 semapv:UnspecifiedMatching MONDO:0012202 malaria, mild, susceptibility to skos:exactMatch OMIM:609148 malaria, mild, susceptibility to semapv:UnspecifiedMatching MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:exactMatch DOID:0081101 nonautoimmune hyperthyroidism semapv:UnspecifiedMatching MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:exactMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:UnspecifiedMatching MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:exactMatch Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor semapv:UnspecifiedMatching MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:exactMatch UMLS:C1836706 semapv:UnspecifiedMatching MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:exactMatch mesh:C563786 semapv:UnspecifiedMatching MONDO:0012204 familial pseudohyperkalemia skos:exactMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:UnspecifiedMatching MONDO:0012204 familial pseudohyperkalemia skos:exactMatch Orphanet:90044 Familial pseudohyperkalemia semapv:UnspecifiedMatching MONDO:0012204 familial pseudohyperkalemia skos:exactMatch SCTID:717254007 semapv:UnspecifiedMatching MONDO:0012204 familial pseudohyperkalemia skos:exactMatch UMLS:C1836705 semapv:UnspecifiedMatching MONDO:0012204 familial pseudohyperkalemia skos:exactMatch mesh:C563785 semapv:UnspecifiedMatching MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:exactMatch OMIM:609161 striatal degeneration, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:exactMatch SCTID:725392005 semapv:UnspecifiedMatching MONDO:0012206 Czech dysplasia, metatarsal type skos:exactMatch OMIM:609162 czech dysplasia semapv:UnspecifiedMatching MONDO:0012206 Czech dysplasia, metatarsal type skos:exactMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:UnspecifiedMatching MONDO:0012206 Czech dysplasia, metatarsal type skos:exactMatch SCTID:720826006 semapv:UnspecifiedMatching MONDO:0012206 Czech dysplasia, metatarsal type skos:exactMatch mesh:C535766 semapv:UnspecifiedMatching MONDO:0012207 umbilicus, familial flat skos:exactMatch OMIM:609164 umbilicus, familial flat semapv:UnspecifiedMatching MONDO:0012207 umbilicus, familial flat skos:exactMatch UMLS:C1836682 semapv:UnspecifiedMatching MONDO:0012207 umbilicus, familial flat skos:exactMatch mesh:C537059 semapv:UnspecifiedMatching MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:exactMatch OMIM:609165 ichthyosis with confetti semapv:UnspecifiedMatching MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:exactMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:UnspecifiedMatching MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:exactMatch SCTID:703504006 semapv:UnspecifiedMatching MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:exactMatch UMLS:C3665704 semapv:UnspecifiedMatching MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:exactMatch mesh:C563781 semapv:UnspecifiedMatching MONDO:0012209 branchiogenic deafness syndrome skos:exactMatch OMIM:609166 branchiogenic-deafness syndrome semapv:UnspecifiedMatching MONDO:0012209 branchiogenic deafness syndrome skos:exactMatch Orphanet:50815 Branchiogenic deafness syndrome semapv:UnspecifiedMatching MONDO:0012209 branchiogenic deafness syndrome skos:exactMatch SCTID:717944002 semapv:UnspecifiedMatching MONDO:0012209 branchiogenic deafness syndrome skos:exactMatch UMLS:C1836673 semapv:UnspecifiedMatching MONDO:0012209 branchiogenic deafness syndrome skos:exactMatch mesh:C563780 semapv:UnspecifiedMatching MONDO:0012210 migraine with aura, susceptibility to, 7 skos:exactMatch OMIM:609179 migraine with aura, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012210 migraine with aura, susceptibility to, 7 skos:exactMatch UMLS:C1836670 semapv:UnspecifiedMatching MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch DOID:0080558 congenital disorder of glycosylation If semapv:UnspecifiedMatching MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch NCIT:C126872 Congenital Disorder of Glycosylation Type If semapv:UnspecifiedMatching MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch OMIM:609180 congenital disorder of glycosylation, iia if semapv:UnspecifiedMatching MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch Orphanet:79323 MPDU1-CDG semapv:UnspecifiedMatching MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch SCTID:724096007 semapv:UnspecifiedMatching MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch UMLS:C1836669 semapv:UnspecifiedMatching MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch mesh:C535744 semapv:UnspecifiedMatching MONDO:0012212 Loeys-Dietz syndrome 1 skos:exactMatch DOID:0070235 Loeys-Dietz syndrome 1 semapv:UnspecifiedMatching MONDO:0012212 Loeys-Dietz syndrome 1 skos:exactMatch NCIT:C75119 Loeys-Dietz Syndrome Type 1 semapv:UnspecifiedMatching MONDO:0012212 Loeys-Dietz syndrome 1 skos:exactMatch OMIM:609192 loeys-dietz syndrome 1 semapv:UnspecifiedMatching MONDO:0012212 Loeys-Dietz syndrome 1 skos:exactMatch UMLS:C4551955 semapv:UnspecifiedMatching MONDO:0012213 hereditary spastic paraplegia 26 skos:exactMatch DOID:0110777 hereditary spastic paraplegia 26 semapv:UnspecifiedMatching MONDO:0012213 hereditary spastic paraplegia 26 skos:exactMatch OMIM:609195 spastic paraplegia 26, autosomal recessive semapv:UnspecifiedMatching MONDO:0012213 hereditary spastic paraplegia 26 skos:exactMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:UnspecifiedMatching MONDO:0012213 hereditary spastic paraplegia 26 skos:exactMatch SCTID:726607007 semapv:UnspecifiedMatching MONDO:0012213 hereditary spastic paraplegia 26 skos:exactMatch UMLS:C1836632 semapv:UnspecifiedMatching MONDO:0012213 hereditary spastic paraplegia 26 skos:exactMatch mesh:C536862 semapv:UnspecifiedMatching MONDO:0012214 glucocorticoid deficiency 3 skos:exactMatch OMIM:609197 glucocorticoid deficiency 3 semapv:UnspecifiedMatching MONDO:0012214 glucocorticoid deficiency 3 skos:exactMatch UMLS:C1836621 semapv:UnspecifiedMatching MONDO:0012214 glucocorticoid deficiency 3 skos:exactMatch mesh:C563776 semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch DOID:0080094 myofibrillar myopathy 3 semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch Orphanet:268129 Spheroid body myopathy semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch Orphanet:98911 Distal myotilinopathy semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch SCTID:719985001 semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch SCTID:765092004 semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch SCTID:765196004 semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch UMLS:C3714934 semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch mesh:C000598645 semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch mesh:C535906 semapv:UnspecifiedMatching MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch mesh:C563775 semapv:UnspecifiedMatching MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:exactMatch OMIM:609218 foveal hypoplasia 2 semapv:UnspecifiedMatching MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:exactMatch Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome semapv:UnspecifiedMatching MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:exactMatch mesh:C563774 semapv:UnspecifiedMatching MONDO:0012217 Bruck syndrome 2 skos:exactMatch OMIM:609220 bruck syndrome 2 semapv:UnspecifiedMatching MONDO:0012217 Bruck syndrome 2 skos:exactMatch UMLS:C1836602 semapv:UnspecifiedMatching MONDO:0012217 Bruck syndrome 2 skos:exactMatch mesh:C537407 semapv:UnspecifiedMatching MONDO:0012218 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:exactMatch OMIM:609222 dandy-walker malformation with occipital cephalocele, autosomal dominant semapv:UnspecifiedMatching MONDO:0012218 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:exactMatch UMLS:C2674987 semapv:UnspecifiedMatching MONDO:0012218 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:exactMatch mesh:C567185 semapv:UnspecifiedMatching MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type skos:exactMatch DOID:0112291 autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type semapv:UnspecifiedMatching MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type skos:exactMatch OMIM:609223 spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger iia semapv:UnspecifiedMatching MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type skos:exactMatch UMLS:C1836584 semapv:UnspecifiedMatching MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type skos:exactMatch mesh:C563772 semapv:UnspecifiedMatching MONDO:0012220 Griscelli syndrome type 3 skos:exactMatch DOID:0060834 Griscelli syndrome type 3 semapv:UnspecifiedMatching MONDO:0012220 Griscelli syndrome type 3 skos:exactMatch OMIM:609227 griscelli syndrome, iia 3 semapv:UnspecifiedMatching MONDO:0012220 Griscelli syndrome type 3 skos:exactMatch Orphanet:79478 Griscelli syndrome type 3 semapv:UnspecifiedMatching MONDO:0012220 Griscelli syndrome type 3 skos:exactMatch UMLS:C1836573 semapv:UnspecifiedMatching MONDO:0012220 Griscelli syndrome type 3 skos:exactMatch mesh:C537303 semapv:UnspecifiedMatching MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch DOID:0112318 Schindler disease type 1 semapv:UnspecifiedMatching MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch OMIM:609241 schindler disease, iia 1 semapv:UnspecifiedMatching MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 semapv:UnspecifiedMatching MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch DOID:0112319 Kanzaki disease semapv:UnspecifiedMatching MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch OMIM:609242 kanzaki disease semapv:UnspecifiedMatching MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:UnspecifiedMatching MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch UMLS:C1836522 semapv:UnspecifiedMatching MONDO:0012223 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate skos:exactMatch OMIM:609250 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate semapv:UnspecifiedMatching MONDO:0012223 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate skos:exactMatch UMLS:C1836521 semapv:UnspecifiedMatching MONDO:0012223 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate skos:exactMatch mesh:C563765 semapv:UnspecifiedMatching MONDO:0012224 febrile seizures, familial, 6 skos:exactMatch DOID:0111309 familial febrile seizures 6 semapv:UnspecifiedMatching MONDO:0012224 febrile seizures, familial, 6 skos:exactMatch OMIM:609253 febrile seizures, familial, 6 semapv:UnspecifiedMatching MONDO:0012224 febrile seizures, familial, 6 skos:exactMatch UMLS:C1836518 semapv:UnspecifiedMatching MONDO:0012224 febrile seizures, familial, 6 skos:exactMatch mesh:C563764 semapv:UnspecifiedMatching MONDO:0012225 Senior-Loken syndrome 5 skos:exactMatch OMIM:609254 senior-loken syndrome 5 semapv:UnspecifiedMatching MONDO:0012225 Senior-Loken syndrome 5 skos:exactMatch UMLS:C1836517 semapv:UnspecifiedMatching MONDO:0012225 Senior-Loken syndrome 5 skos:exactMatch mesh:C563763 semapv:UnspecifiedMatching MONDO:0012226 febrile seizures, familial, 5 skos:exactMatch DOID:0111306 familial febrile seizures 5 semapv:UnspecifiedMatching MONDO:0012226 febrile seizures, familial, 5 skos:exactMatch OMIM:609255 febrile seizures, familial, 5 semapv:UnspecifiedMatching MONDO:0012226 febrile seizures, familial, 5 skos:exactMatch UMLS:C1836507 semapv:UnspecifiedMatching MONDO:0012226 febrile seizures, familial, 5 skos:exactMatch mesh:C563762 semapv:UnspecifiedMatching MONDO:0012227 myopia 7 skos:exactMatch OMIM:609256 myopia 7 semapv:UnspecifiedMatching MONDO:0012227 myopia 7 skos:exactMatch UMLS:C1836506 semapv:UnspecifiedMatching MONDO:0012227 myopia 7 skos:exactMatch mesh:C563761 semapv:UnspecifiedMatching MONDO:0012228 myopia 8 skos:exactMatch OMIM:609257 myopia 8 semapv:UnspecifiedMatching MONDO:0012228 myopia 8 skos:exactMatch UMLS:C1836505 semapv:UnspecifiedMatching MONDO:0012228 myopia 8 skos:exactMatch mesh:C563760 semapv:UnspecifiedMatching MONDO:0012229 myopia 9 skos:exactMatch OMIM:609258 myopia 9 semapv:UnspecifiedMatching MONDO:0012229 myopia 9 skos:exactMatch UMLS:C1836504 semapv:UnspecifiedMatching MONDO:0012229 myopia 9 skos:exactMatch mesh:C563759 semapv:UnspecifiedMatching MONDO:0012230 myopia 10 skos:exactMatch OMIM:609259 myopia 10 semapv:UnspecifiedMatching MONDO:0012230 myopia 10 skos:exactMatch UMLS:C1836503 semapv:UnspecifiedMatching MONDO:0012230 myopia 10 skos:exactMatch mesh:C563758 semapv:UnspecifiedMatching MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:exactMatch DOID:0110155 Charcot-Marie-Tooth disease type 2A2A semapv:UnspecifiedMatching MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:exactMatch NCIT:C150646 Charcot-Marie-Tooth Disease Type 2A2A semapv:UnspecifiedMatching MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:exactMatch OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a semapv:UnspecifiedMatching MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:exactMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:UnspecifiedMatching MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:exactMatch SCTID:764850002 semapv:UnspecifiedMatching MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:exactMatch UMLS:C4721887 semapv:UnspecifiedMatching MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:exactMatch mesh:C563757 semapv:UnspecifiedMatching MONDO:0012232 stuttering, familial persistent, 2 skos:exactMatch OMIM:609261 stuttering, familial persistent, 2 semapv:UnspecifiedMatching MONDO:0012232 stuttering, familial persistent, 2 skos:exactMatch UMLS:C1836484 semapv:UnspecifiedMatching MONDO:0012232 stuttering, familial persistent, 2 skos:exactMatch mesh:C563756 semapv:UnspecifiedMatching MONDO:0012233 obsolete Li-Fraumeni syndrome 2 skos:exactMatch DOID:0111504 Li-Fraumeni syndrome 2 semapv:UnspecifiedMatching MONDO:0012233 obsolete Li-Fraumeni syndrome 2 skos:exactMatch OMIM:609265 tumor predisposition syndrome 4 semapv:UnspecifiedMatching MONDO:0012233 obsolete Li-Fraumeni syndrome 2 skos:exactMatch UMLS:C1836482 semapv:UnspecifiedMatching MONDO:0012233 obsolete Li-Fraumeni syndrome 2 skos:exactMatch mesh:C563755 semapv:UnspecifiedMatching MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:exactMatch DOID:0080059 autosomal recessive spinocerebellar ataxia 7 semapv:UnspecifiedMatching MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:exactMatch OMIM:609270 spinocerebellar ataxia, autosomal recessive 7 semapv:UnspecifiedMatching MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:exactMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:UnspecifiedMatching MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:exactMatch UMLS:C1836474 semapv:UnspecifiedMatching MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:exactMatch mesh:C563753 semapv:UnspecifiedMatching MONDO:0012236 keratoconus 4 skos:exactMatch OMIM:609271 keratoconus 4 semapv:UnspecifiedMatching MONDO:0012236 keratoconus 4 skos:exactMatch UMLS:C1836473 semapv:UnspecifiedMatching MONDO:0012236 keratoconus 4 skos:exactMatch mesh:C563752 semapv:UnspecifiedMatching MONDO:0012237 nemaline myopathy 6 skos:exactMatch DOID:0110935 nemaline myopathy 6 semapv:UnspecifiedMatching MONDO:0012237 nemaline myopathy 6 skos:exactMatch OMIM:609273 nemaline myopathy 6 semapv:UnspecifiedMatching MONDO:0012237 nemaline myopathy 6 skos:exactMatch UMLS:C1836472 semapv:UnspecifiedMatching MONDO:0012237 nemaline myopathy 6 skos:exactMatch mesh:C538398 semapv:UnspecifiedMatching MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 semapv:UnspecifiedMatching MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch UMLS:C1836460 semapv:UnspecifiedMatching MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch mesh:C563750 semapv:UnspecifiedMatching MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:exactMatch DOID:0110926 nemaline myopathy 1 semapv:UnspecifiedMatching MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:exactMatch OMIM:609284 congenital myopathy 4b, autosomal recessive semapv:UnspecifiedMatching MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:exactMatch UMLS:C1836448 semapv:UnspecifiedMatching MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:exactMatch mesh:C538348 semapv:UnspecifiedMatching MONDO:0012240 congenital myopathy 23 skos:exactMatch DOID:0110932 nemaline myopathy 4 semapv:UnspecifiedMatching MONDO:0012240 congenital myopathy 23 skos:exactMatch NCIT:C164225 Nemaline Myopathy 4 semapv:UnspecifiedMatching MONDO:0012240 congenital myopathy 23 skos:exactMatch OMIM:609285 congenital myopathy 23 semapv:UnspecifiedMatching MONDO:0012240 congenital myopathy 23 skos:exactMatch UMLS:C1836447 semapv:UnspecifiedMatching MONDO:0012240 congenital myopathy 23 skos:exactMatch mesh:C538351 semapv:UnspecifiedMatching MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch DOID:0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 semapv:UnspecifiedMatching MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 semapv:UnspecifiedMatching MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch UMLS:C1836439 semapv:UnspecifiedMatching MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch mesh:C563747 semapv:UnspecifiedMatching MONDO:0012242 syncope, familial vasovagal skos:exactMatch OMIM:609289 syncope, familial vasovagal semapv:UnspecifiedMatching MONDO:0012242 syncope, familial vasovagal skos:exactMatch UMLS:C1836438 semapv:UnspecifiedMatching MONDO:0012242 syncope, familial vasovagal skos:exactMatch mesh:C536849 semapv:UnspecifiedMatching MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:exactMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:UnspecifiedMatching MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:exactMatch UMLS:C1836437 semapv:UnspecifiedMatching MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:exactMatch mesh:C563745 semapv:UnspecifiedMatching MONDO:0012244 prostate cancer, hereditary, 5 skos:exactMatch OMIM:609299 prostate cancer, hereditary, 5 semapv:UnspecifiedMatching MONDO:0012244 prostate cancer, hereditary, 5 skos:exactMatch UMLS:C1836436 semapv:UnspecifiedMatching MONDO:0012244 prostate cancer, hereditary, 5 skos:exactMatch mesh:C563744 semapv:UnspecifiedMatching MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:exactMatch DOID:0080440 developmental and epileptic encephalopathy 3 semapv:UnspecifiedMatching MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:exactMatch OMIM:609304 developmental and epileptic encephalopathy 3 semapv:UnspecifiedMatching MONDO:0012246 spinocerebellar ataxia type 26 skos:exactMatch DOID:0050975 spinocerebellar ataxia type 26 semapv:UnspecifiedMatching MONDO:0012246 spinocerebellar ataxia type 26 skos:exactMatch OMIM:609306 spinocerebellar ataxia 26 semapv:UnspecifiedMatching MONDO:0012246 spinocerebellar ataxia type 26 skos:exactMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:UnspecifiedMatching MONDO:0012246 spinocerebellar ataxia type 26 skos:exactMatch SCTID:718769009 semapv:UnspecifiedMatching MONDO:0012246 spinocerebellar ataxia type 26 skos:exactMatch UMLS:C1836395 semapv:UnspecifiedMatching MONDO:0012246 spinocerebellar ataxia type 26 skos:exactMatch mesh:C537203 semapv:UnspecifiedMatching MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch DOID:0050976 spinocerebellar ataxia type 27 semapv:UnspecifiedMatching MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:UnspecifiedMatching MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch SCTID:719252002 semapv:UnspecifiedMatching MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch UMLS:C1836383 semapv:UnspecifiedMatching MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch mesh:C537204 semapv:UnspecifiedMatching MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:exactMatch DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K semapv:UnspecifiedMatching MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:exactMatch NCIT:C133730 Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1 semapv:UnspecifiedMatching MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:exactMatch OMIM:609308 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 1 semapv:UnspecifiedMatching MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:exactMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:UnspecifiedMatching MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:exactMatch SCTID:720523006 semapv:UnspecifiedMatching MONDO:0012249 Lynch syndrome 2 skos:exactMatch DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 semapv:UnspecifiedMatching MONDO:0012249 Lynch syndrome 2 skos:exactMatch NCIT:C6726 Lynch 2 Syndrome semapv:UnspecifiedMatching MONDO:0012249 Lynch syndrome 2 skos:exactMatch OMIM:609310 lynch syndrome 2 semapv:UnspecifiedMatching MONDO:0012249 Lynch syndrome 2 skos:exactMatch mesh:D055847 semapv:UnspecifiedMatching MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:exactMatch DOID:0110192 Charcot-Marie-Tooth disease type 4H semapv:UnspecifiedMatching MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:exactMatch OMIM:609311 charcot-marie-tooth disease, iia 4h semapv:UnspecifiedMatching MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:exactMatch Orphanet:99954 Charcot-Marie-Tooth disease type 4H semapv:UnspecifiedMatching MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:exactMatch SCTID:715802008 semapv:UnspecifiedMatching MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:exactMatch UMLS:C1836336 semapv:UnspecifiedMatching MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:exactMatch mesh:C563740 semapv:UnspecifiedMatching MONDO:0012251 MEDNIK syndrome skos:exactMatch DOID:0060483 MEDNIK syndrome semapv:UnspecifiedMatching MONDO:0012251 MEDNIK syndrome skos:exactMatch OMIM:609313 mednik syndrome semapv:UnspecifiedMatching MONDO:0012251 MEDNIK syndrome skos:exactMatch Orphanet:171851 MEDNIK syndrome semapv:UnspecifiedMatching MONDO:0012251 MEDNIK syndrome skos:exactMatch SCTID:722035007 semapv:UnspecifiedMatching MONDO:0012251 MEDNIK syndrome skos:exactMatch UMLS:C1836330 semapv:UnspecifiedMatching MONDO:0012251 MEDNIK syndrome skos:exactMatch mesh:C563739 semapv:UnspecifiedMatching MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch NCIT:C178393 Rhabdoid Tumor Predisposition Syndrome 1 semapv:UnspecifiedMatching MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:UnspecifiedMatching MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch mesh:C563738 semapv:UnspecifiedMatching MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:exactMatch OMIM:609324 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia semapv:UnspecifiedMatching MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:exactMatch Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:UnspecifiedMatching MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:exactMatch UMLS:C1836315 semapv:UnspecifiedMatching MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:exactMatch mesh:C563736 semapv:UnspecifiedMatching MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:exactMatch OMIM:609325 epiphyseal dysplasia, multiple, with miniepiphyses semapv:UnspecifiedMatching MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:exactMatch Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses semapv:UnspecifiedMatching MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:exactMatch UMLS:C1836307 semapv:UnspecifiedMatching MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:exactMatch mesh:C563735 semapv:UnspecifiedMatching MONDO:0012255 chromosome 18 pericentric inversion skos:exactMatch OMIM:609334 chromosome 18 pericentric inversion semapv:UnspecifiedMatching MONDO:0012255 chromosome 18 pericentric inversion skos:exactMatch UMLS:C1836305 semapv:UnspecifiedMatching MONDO:0012255 chromosome 18 pericentric inversion skos:exactMatch mesh:C563734 semapv:UnspecifiedMatching MONDO:0012256 hereditary spastic paraplegia 28 skos:exactMatch DOID:0110779 hereditary spastic paraplegia 28 semapv:UnspecifiedMatching MONDO:0012256 hereditary spastic paraplegia 28 skos:exactMatch OMIM:609340 spastic paraplegia 28, autosomal recessive semapv:UnspecifiedMatching MONDO:0012256 hereditary spastic paraplegia 28 skos:exactMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:UnspecifiedMatching MONDO:0012256 hereditary spastic paraplegia 28 skos:exactMatch SCTID:763376002 semapv:UnspecifiedMatching MONDO:0012256 hereditary spastic paraplegia 28 skos:exactMatch UMLS:C1836295 semapv:UnspecifiedMatching MONDO:0012256 hereditary spastic paraplegia 28 skos:exactMatch mesh:C563732 semapv:UnspecifiedMatching MONDO:0012257 Cerebrorenodigital syndrome skos:exactMatch OMIM:609345 cerebrorenodigital syndrome with limb malformations and triradiate acetabula semapv:UnspecifiedMatching MONDO:0012257 Cerebrorenodigital syndrome skos:exactMatch UMLS:C1836287 semapv:UnspecifiedMatching MONDO:0012257 Cerebrorenodigital syndrome skos:exactMatch mesh:C563731 semapv:UnspecifiedMatching MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:exactMatch OMIM:609352 epidermolysis bullosa simplex 2e, with migratory circinate erythema semapv:UnspecifiedMatching MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:exactMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:UnspecifiedMatching MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:exactMatch SCTID:716700003 semapv:UnspecifiedMatching MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:exactMatch UMLS:C1836284 semapv:UnspecifiedMatching MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:exactMatch mesh:C563730 semapv:UnspecifiedMatching MONDO:0012259 colloid cysts of third ventricle skos:exactMatch OMIM:609363 colloid cysts of third ventricle semapv:UnspecifiedMatching MONDO:0012259 colloid cysts of third ventricle skos:exactMatch mesh:C535966 semapv:UnspecifiedMatching MONDO:0012260 cataract 35 skos:exactMatch DOID:0110261 cataract 35 semapv:UnspecifiedMatching MONDO:0012260 cataract 35 skos:exactMatch OMIM:609376 cataract 35 semapv:UnspecifiedMatching MONDO:0012260 cataract 35 skos:exactMatch UMLS:C1836272 semapv:UnspecifiedMatching MONDO:0012260 cataract 35 skos:exactMatch mesh:C563728 semapv:UnspecifiedMatching MONDO:0012261 autism, susceptibility to, 6 skos:exactMatch OMIM:609378 autism, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012261 autism, susceptibility to, 6 skos:exactMatch UMLS:C1836271 semapv:UnspecifiedMatching MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:exactMatch DOID:0081019 congenital fibrosis of the extraocular muscles 3C semapv:UnspecifiedMatching MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:exactMatch OMIM:609384 fibrosis of extraocular muscles, congenital, 3c semapv:UnspecifiedMatching MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:exactMatch UMLS:C2750404 semapv:UnspecifiedMatching MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:exactMatch mesh:C567666 semapv:UnspecifiedMatching MONDO:0012263 autoimmune disease, susceptibility to, 4 skos:exactMatch OMIM:609400 autoimmune disease, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012264 preeclampsia/eclampsia 2 skos:exactMatch OMIM:609402 preeclampsia/eclampsia 2 semapv:UnspecifiedMatching MONDO:0012264 preeclampsia/eclampsia 2 skos:exactMatch UMLS:C1836257 semapv:UnspecifiedMatching MONDO:0012265 preeclampsia/eclampsia 3 skos:exactMatch OMIM:609403 preeclampsia/eclampsia 3 semapv:UnspecifiedMatching MONDO:0012265 preeclampsia/eclampsia 3 skos:exactMatch UMLS:C1836256 semapv:UnspecifiedMatching MONDO:0012266 preeclampsia/eclampsia 4 skos:exactMatch OMIM:609404 preeclampsia/eclampsia 4 semapv:UnspecifiedMatching MONDO:0012266 preeclampsia/eclampsia 4 skos:exactMatch UMLS:C1836255 semapv:UnspecifiedMatching MONDO:0012266 preeclampsia/eclampsia 4 skos:exactMatch mesh:C563724 semapv:UnspecifiedMatching MONDO:0012267 holoprosencephaly 8 skos:exactMatch DOID:0110879 holoprosencephaly 8 semapv:UnspecifiedMatching MONDO:0012267 holoprosencephaly 8 skos:exactMatch OMIM:609408 holoprosencephaly 8 semapv:UnspecifiedMatching MONDO:0012267 holoprosencephaly 8 skos:exactMatch UMLS:C1836254 semapv:UnspecifiedMatching MONDO:0012267 holoprosencephaly 8 skos:exactMatch mesh:C563723 semapv:UnspecifiedMatching MONDO:0012268 AIDS skos:exactMatch DOID:635 acquired immunodeficiency syndrome semapv:UnspecifiedMatching MONDO:0012268 AIDS skos:exactMatch NCIT:C2851 Acquired Immunodeficiency Syndrome semapv:UnspecifiedMatching MONDO:0012268 AIDS skos:exactMatch SCTID:62479008 semapv:UnspecifiedMatching MONDO:0012268 AIDS skos:exactMatch mesh:D000163 semapv:UnspecifiedMatching MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch DOID:0060419 chromosome 3q29 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch OMIM:609425 chromosome 3q29 deletion syndrome semapv:UnspecifiedMatching MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch Orphanet:65286 3q29 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch SCTID:716456000 semapv:UnspecifiedMatching MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch UMLS:C2674949 semapv:UnspecifiedMatching MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch mesh:C567184 semapv:UnspecifiedMatching MONDO:0012270 Tukel syndrome skos:exactMatch DOID:0081021 Tukel syndrome semapv:UnspecifiedMatching MONDO:0012270 Tukel syndrome skos:exactMatch OMIM:609428 tukel syndrome semapv:UnspecifiedMatching MONDO:0012270 Tukel syndrome skos:exactMatch UMLS:C1836217 semapv:UnspecifiedMatching MONDO:0012270 Tukel syndrome skos:exactMatch mesh:C536925 semapv:UnspecifiedMatching MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:exactMatch OMIM:609432 syndactyly, mesoaxial synostotic, with phalangeal reduction semapv:UnspecifiedMatching MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:exactMatch Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction semapv:UnspecifiedMatching MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:exactMatch SCTID:724170007 semapv:UnspecifiedMatching MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:exactMatch UMLS:C1836206 semapv:UnspecifiedMatching MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:exactMatch mesh:C563721 semapv:UnspecifiedMatching MONDO:0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block skos:exactMatch OMIM:609438 mental retardation, keratoconus, febrile seizures, and sinoatrial block semapv:UnspecifiedMatching MONDO:0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block skos:exactMatch UMLS:C1836202 semapv:UnspecifiedMatching MONDO:0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block skos:exactMatch mesh:C537452 semapv:UnspecifiedMatching MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:exactMatch DOID:0110505 autosomal recessive nonsyndromic deafness 48 semapv:UnspecifiedMatching MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:exactMatch OMIM:609439 deafness, autosomal recessive 48 semapv:UnspecifiedMatching MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:exactMatch UMLS:C1836199 semapv:UnspecifiedMatching MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:exactMatch mesh:C563720 semapv:UnspecifiedMatching MONDO:0012274 acromesomelic dysplasia 3 skos:exactMatch DOID:0081237 acromesomelic dysplasia-3 semapv:UnspecifiedMatching MONDO:0012274 acromesomelic dysplasia 3 skos:exactMatch OMIM:609441 acromesomelic dysplasia 3 semapv:UnspecifiedMatching MONDO:0012274 acromesomelic dysplasia 3 skos:exactMatch mesh:C537913 semapv:UnspecifiedMatching MONDO:0012275 fetal valproate syndrome skos:exactMatch DOID:0060471 fetal valproate syndrome semapv:UnspecifiedMatching MONDO:0012275 fetal valproate syndrome skos:exactMatch NCIT:C98930 Fetal Valproate Syndrome semapv:UnspecifiedMatching MONDO:0012275 fetal valproate syndrome skos:exactMatch OMIM:609442 valproate embryopathy, susceptibility to semapv:UnspecifiedMatching MONDO:0012275 fetal valproate syndrome skos:exactMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:UnspecifiedMatching MONDO:0012275 fetal valproate syndrome skos:exactMatch SCTID:17231009 semapv:UnspecifiedMatching MONDO:0012275 fetal valproate syndrome skos:exactMatch UMLS:C0236026 semapv:UnspecifiedMatching MONDO:0012275 fetal valproate syndrome skos:exactMatch mesh:C536525 semapv:UnspecifiedMatching MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy semapv:UnspecifiedMatching MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome semapv:UnspecifiedMatching MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch UMLS:C5574945 semapv:UnspecifiedMatching MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch mesh:C563719 semapv:UnspecifiedMatching MONDO:0012277 myofibrillar myopathy 4 skos:exactMatch DOID:0080095 myofibrillar myopathy 4 semapv:UnspecifiedMatching MONDO:0012277 myofibrillar myopathy 4 skos:exactMatch OMIM:609452 myopathy, myofibrillar, 4 semapv:UnspecifiedMatching MONDO:0012277 myofibrillar myopathy 4 skos:exactMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:UnspecifiedMatching MONDO:0012277 myofibrillar myopathy 4 skos:exactMatch UMLS:C4721886 semapv:UnspecifiedMatching MONDO:0012277 myofibrillar myopathy 4 skos:exactMatch mesh:C563718 semapv:UnspecifiedMatching MONDO:0012278 supranuclear palsy, progressive, 2 skos:exactMatch OMIM:609454 supranuclear palsy, progressive, 2 semapv:UnspecifiedMatching MONDO:0012278 supranuclear palsy, progressive, 2 skos:exactMatch UMLS:C1836148 semapv:UnspecifiedMatching MONDO:0012278 supranuclear palsy, progressive, 2 skos:exactMatch mesh:C563717 semapv:UnspecifiedMatching MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:exactMatch DOID:0060481 Goldberg-Shprintzen syndrome semapv:UnspecifiedMatching MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:exactMatch OMIM:609460 goldberg-shprintzen syndrome semapv:UnspecifiedMatching MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:exactMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:UnspecifiedMatching MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:exactMatch SCTID:717822006 semapv:UnspecifiedMatching MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:exactMatch UMLS:C1836123 semapv:UnspecifiedMatching MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:exactMatch mesh:C537279 semapv:UnspecifiedMatching MONDO:0012282 Al-Gazali syndrome skos:exactMatch OMIM:609465 al-gazali syndrome semapv:UnspecifiedMatching MONDO:0012282 Al-Gazali syndrome skos:exactMatch Orphanet:2725 Eye defects-arachnodactyly-cardiopathy syndrome semapv:UnspecifiedMatching MONDO:0012282 Al-Gazali syndrome skos:exactMatch UMLS:C1836121 semapv:UnspecifiedMatching MONDO:0012282 Al-Gazali syndrome skos:exactMatch mesh:C536817 semapv:UnspecifiedMatching MONDO:0012283 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss skos:exactMatch OMIM:609466 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss semapv:UnspecifiedMatching MONDO:0012283 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss skos:exactMatch UMLS:C1836120 semapv:UnspecifiedMatching MONDO:0012283 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss skos:exactMatch mesh:C536427 semapv:UnspecifiedMatching MONDO:0012284 nephropathy, progressive, with deafness skos:exactMatch OMIM:609469 nephropathy, progressive, with deafness semapv:UnspecifiedMatching MONDO:0012284 nephropathy, progressive, with deafness skos:exactMatch UMLS:C1836119 semapv:UnspecifiedMatching MONDO:0012284 nephropathy, progressive, with deafness skos:exactMatch mesh:C563713 semapv:UnspecifiedMatching MONDO:0012285 left ventricular noncompaction 2 skos:exactMatch OMIM:609470 left ventricular noncompaction 2 semapv:UnspecifiedMatching MONDO:0012285 left ventricular noncompaction 2 skos:exactMatch UMLS:C1836118 semapv:UnspecifiedMatching MONDO:0012286 myopathy, autophagic vacuolar, infantile-onset skos:exactMatch OMIM:609500 myopathy, autophagic vacuolar, infantile-onset semapv:UnspecifiedMatching MONDO:0012286 myopathy, autophagic vacuolar, infantile-onset skos:exactMatch UMLS:C2931230 semapv:UnspecifiedMatching MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:exactMatch OMIM:609508 stickler syndrome, iia i, nonsyndromic ocular semapv:UnspecifiedMatching MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:exactMatch UMLS:C1836080 semapv:UnspecifiedMatching MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:exactMatch mesh:C563709 semapv:UnspecifiedMatching MONDO:0012288 iridogoniodysgenesis and skeletal anomalies skos:exactMatch OMIM:609515 iridogoniodysgenesis and skeletal anomalies semapv:UnspecifiedMatching MONDO:0012288 iridogoniodysgenesis and skeletal anomalies skos:exactMatch UMLS:C1836074 semapv:UnspecifiedMatching MONDO:0012288 iridogoniodysgenesis and skeletal anomalies skos:exactMatch mesh:C535534 semapv:UnspecifiedMatching MONDO:0012289 myofibrillar myopathy 5 skos:exactMatch DOID:0080096 myofibrillar myopathy 5 semapv:UnspecifiedMatching MONDO:0012289 myofibrillar myopathy 5 skos:exactMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:UnspecifiedMatching MONDO:0012289 myofibrillar myopathy 5 skos:exactMatch Orphanet:171445 Muscle filaminopathy semapv:UnspecifiedMatching MONDO:0012289 myofibrillar myopathy 5 skos:exactMatch mesh:C537932 semapv:UnspecifiedMatching MONDO:0012290 CEDNIK syndrome skos:exactMatch DOID:0060337 CEDNIK syndrome semapv:UnspecifiedMatching MONDO:0012290 CEDNIK syndrome skos:exactMatch OMIM:609528 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome semapv:UnspecifiedMatching MONDO:0012290 CEDNIK syndrome skos:exactMatch Orphanet:66631 CEDNIK syndrome semapv:UnspecifiedMatching MONDO:0012290 CEDNIK syndrome skos:exactMatch SCTID:722385008 semapv:UnspecifiedMatching MONDO:0012290 CEDNIK syndrome skos:exactMatch UMLS:C1836033 semapv:UnspecifiedMatching MONDO:0012290 CEDNIK syndrome skos:exactMatch mesh:C537943 semapv:UnspecifiedMatching MONDO:0012291 immunoglobulin A deficiency 2 skos:exactMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:UnspecifiedMatching MONDO:0012291 immunoglobulin A deficiency 2 skos:exactMatch UMLS:C1836032 semapv:UnspecifiedMatching MONDO:0012291 immunoglobulin A deficiency 2 skos:exactMatch mesh:C536291 semapv:UnspecifiedMatching MONDO:0012292 hepatitis C virus, susceptibility to skos:exactMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:UnspecifiedMatching MONDO:0012292 hepatitis C virus, susceptibility to skos:exactMatch UMLS:C1835407 semapv:UnspecifiedMatching MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:exactMatch DOID:0110481 autosomal recessive nonsyndromic deafness 23 semapv:UnspecifiedMatching MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:exactMatch OMIM:609533 deafness, autosomal recessive 23 semapv:UnspecifiedMatching MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:exactMatch UMLS:C1836027 semapv:UnspecifiedMatching MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:exactMatch mesh:C563705 semapv:UnspecifiedMatching MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related skos:exactMatch OMIM:609535 drug metabolism, poor, cyp2c19-related semapv:UnspecifiedMatching MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related skos:exactMatch UMLS:C1836023 semapv:UnspecifiedMatching MONDO:0012295 complement component 5 deficiency skos:exactMatch DOID:8158 complement component 5 deficiency semapv:UnspecifiedMatching MONDO:0012295 complement component 5 deficiency skos:exactMatch NCIT:C9469 C5 Deficiency semapv:UnspecifiedMatching MONDO:0012295 complement component 5 deficiency skos:exactMatch OMIM:609536 complement component 5 deficiency semapv:UnspecifiedMatching MONDO:0012295 complement component 5 deficiency skos:exactMatch UMLS:C0343047 semapv:UnspecifiedMatching MONDO:0012296 lipomyelomeningocele skos:exactMatch OMIM:609537 lipomyelomeningocele semapv:UnspecifiedMatching MONDO:0012296 lipomyelomeningocele skos:exactMatch Orphanet:268835 Lipomyelomeningocele semapv:UnspecifiedMatching MONDO:0012296 lipomyelomeningocele skos:exactMatch SCTID:104431000119107 semapv:UnspecifiedMatching MONDO:0012296 lipomyelomeningocele skos:exactMatch UMLS:C1836022 semapv:UnspecifiedMatching MONDO:0012296 lipomyelomeningocele skos:exactMatch mesh:C537030 semapv:UnspecifiedMatching MONDO:0012297 SPOAN syndrome skos:exactMatch DOID:0060491 SPOAN syndrome semapv:UnspecifiedMatching MONDO:0012297 SPOAN syndrome skos:exactMatch OMIM:609541 spastic paraplegia, optic atrophy, and neuropathy semapv:UnspecifiedMatching MONDO:0012297 SPOAN syndrome skos:exactMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:UnspecifiedMatching MONDO:0012297 SPOAN syndrome skos:exactMatch UMLS:C1836010 semapv:UnspecifiedMatching MONDO:0012297 SPOAN syndrome skos:exactMatch mesh:C563702 semapv:UnspecifiedMatching MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:exactMatch OMIM:609545 omphalocele, diaphragmatic hernia, and radial ray defects semapv:UnspecifiedMatching MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:exactMatch UMLS:C1836007 semapv:UnspecifiedMatching MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:exactMatch mesh:C563701 semapv:UnspecifiedMatching MONDO:0012299 nanophthalmos 2 skos:exactMatch OMIM:609549 nanophthalmos 2 semapv:UnspecifiedMatching MONDO:0012299 nanophthalmos 2 skos:exactMatch UMLS:C1836006 semapv:UnspecifiedMatching MONDO:0012299 nanophthalmos 2 skos:exactMatch mesh:C563700 semapv:UnspecifiedMatching MONDO:0012300 prostate cancer, hereditary, 6 skos:exactMatch OMIM:609558 prostate cancer, hereditary, 6 semapv:UnspecifiedMatching MONDO:0012300 prostate cancer, hereditary, 6 skos:exactMatch UMLS:C1836005 semapv:UnspecifiedMatching MONDO:0012300 prostate cancer, hereditary, 6 skos:exactMatch mesh:C563699 semapv:UnspecifiedMatching MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch DOID:0080120 mitochondrial DNA depletion syndrome 2 semapv:UnspecifiedMatching MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:UnspecifiedMatching MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:UnspecifiedMatching MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch SCTID:703527003 semapv:UnspecifiedMatching MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch UMLS:C3149750 semapv:UnspecifiedMatching MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch mesh:C563698 semapv:UnspecifiedMatching MONDO:0012302 parietal foramina 3 skos:exactMatch OMIM:609566 parietal foramina 3 semapv:UnspecifiedMatching MONDO:0012302 parietal foramina 3 skos:exactMatch UMLS:C1835980 semapv:UnspecifiedMatching MONDO:0012302 parietal foramina 3 skos:exactMatch mesh:C563697 semapv:UnspecifiedMatching MONDO:0012303 migraine with or without aura, susceptibility to, 8 skos:exactMatch OMIM:609570 migraine with or without aura, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012304 photoparoxysmal response 2 skos:exactMatch OMIM:609572 photoparoxysmal response 2 semapv:UnspecifiedMatching MONDO:0012304 photoparoxysmal response 2 skos:exactMatch UMLS:C1835967 semapv:UnspecifiedMatching MONDO:0012305 photoparoxysmal response 3 skos:exactMatch OMIM:609573 photoparoxysmal response 3 semapv:UnspecifiedMatching MONDO:0012305 photoparoxysmal response 3 skos:exactMatch UMLS:C1835966 semapv:UnspecifiedMatching MONDO:0012305 photoparoxysmal response 3 skos:exactMatch mesh:C563695 semapv:UnspecifiedMatching MONDO:0012306 cardiomyopathy, familial restrictive, 2 skos:exactMatch DOID:0111426 restrictive cardiomyopathy 2 semapv:UnspecifiedMatching MONDO:0012306 cardiomyopathy, familial restrictive, 2 skos:exactMatch OMIM:609578 cardiomyopathy, familial restrictive, 2 semapv:UnspecifiedMatching MONDO:0012306 cardiomyopathy, familial restrictive, 2 skos:exactMatch UMLS:C1865071 semapv:UnspecifiedMatching MONDO:0012306 cardiomyopathy, familial restrictive, 2 skos:exactMatch mesh:C566512 semapv:UnspecifiedMatching MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:exactMatch OMIM:609579 scaphocephaly, maxillary retrusion, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:exactMatch Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type semapv:UnspecifiedMatching MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:exactMatch UMLS:C1865070 semapv:UnspecifiedMatching MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:exactMatch mesh:C566511 semapv:UnspecifiedMatching MONDO:0012308 Joubert syndrome with renal defect skos:exactMatch DOID:0110999 Joubert syndrome 4 semapv:UnspecifiedMatching MONDO:0012308 Joubert syndrome with renal defect skos:exactMatch NCIT:C74997 Joubert Syndrome 4 semapv:UnspecifiedMatching MONDO:0012308 Joubert syndrome with renal defect skos:exactMatch OMIM:609583 joubert syndrome 4 semapv:UnspecifiedMatching MONDO:0012308 Joubert syndrome with renal defect skos:exactMatch Orphanet:220497 Joubert syndrome with renal defect semapv:UnspecifiedMatching MONDO:0012308 Joubert syndrome with renal defect skos:exactMatch SCTID:716999001 semapv:UnspecifiedMatching MONDO:0012308 Joubert syndrome with renal defect skos:exactMatch mesh:C536296 semapv:UnspecifiedMatching MONDO:0012309 parietal foramina 2 skos:exactMatch OMIM:609597 parietal foramina 2 semapv:UnspecifiedMatching MONDO:0012309 parietal foramina 2 skos:exactMatch UMLS:C1865044 semapv:UnspecifiedMatching MONDO:0012309 parietal foramina 2 skos:exactMatch mesh:C566510 semapv:UnspecifiedMatching MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:exactMatch OMIM:609612 fibrosis of extraocular muscles, congenital, with synergistic divergence semapv:UnspecifiedMatching MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:exactMatch UMLS:C1865040 semapv:UnspecifiedMatching MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:exactMatch mesh:C566508 semapv:UnspecifiedMatching MONDO:0012311 spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness skos:exactMatch OMIM:609616 spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness semapv:UnspecifiedMatching MONDO:0012311 spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness skos:exactMatch UMLS:C1865022 semapv:UnspecifiedMatching MONDO:0012311 spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness skos:exactMatch mesh:C566507 semapv:UnspecifiedMatching MONDO:0012312 short QT syndrome type 1 skos:exactMatch OMIM:609620 short qt syndrome 1 semapv:UnspecifiedMatching MONDO:0012312 short QT syndrome type 1 skos:exactMatch UMLS:C1865020 semapv:UnspecifiedMatching MONDO:0012312 short QT syndrome type 1 skos:exactMatch mesh:C566506 semapv:UnspecifiedMatching MONDO:0012313 short QT syndrome type 2 skos:exactMatch OMIM:609621 short qt syndrome 2 semapv:UnspecifiedMatching MONDO:0012313 short QT syndrome type 2 skos:exactMatch UMLS:C1865019 semapv:UnspecifiedMatching MONDO:0012313 short QT syndrome type 2 skos:exactMatch mesh:C566505 semapv:UnspecifiedMatching MONDO:0012314 short QT syndrome type 3 skos:exactMatch OMIM:609622 short qt syndrome 3 semapv:UnspecifiedMatching MONDO:0012314 short QT syndrome type 3 skos:exactMatch UMLS:C1865018 semapv:UnspecifiedMatching MONDO:0012314 short QT syndrome type 3 skos:exactMatch mesh:C566504 semapv:UnspecifiedMatching MONDO:0012315 distal 10q deletion syndrome skos:exactMatch DOID:0060390 distal 10q deletion syndrome semapv:UnspecifiedMatching MONDO:0012315 distal 10q deletion syndrome skos:exactMatch OMIM:609625 chromosome 10q26 deletion syndrome semapv:UnspecifiedMatching MONDO:0012315 distal 10q deletion syndrome skos:exactMatch Orphanet:96148 Distal deletion 10q semapv:UnspecifiedMatching MONDO:0012315 distal 10q deletion syndrome skos:exactMatch SCTID:718687003 semapv:UnspecifiedMatching MONDO:0012315 distal 10q deletion syndrome skos:exactMatch UMLS:C2674937 semapv:UnspecifiedMatching MONDO:0012315 distal 10q deletion syndrome skos:exactMatch mesh:C567182 semapv:UnspecifiedMatching MONDO:0012316 Majeed syndrome skos:exactMatch NCIT:C119058 Majeed Syndrome semapv:UnspecifiedMatching MONDO:0012316 Majeed syndrome skos:exactMatch OMIM:609628 majeed syndrome semapv:UnspecifiedMatching MONDO:0012316 Majeed syndrome skos:exactMatch Orphanet:77297 Majeed syndrome semapv:UnspecifiedMatching MONDO:0012316 Majeed syndrome skos:exactMatch SCTID:703540008 semapv:UnspecifiedMatching MONDO:0012316 Majeed syndrome skos:exactMatch UMLS:C1864997 semapv:UnspecifiedMatching MONDO:0012316 Majeed syndrome skos:exactMatch mesh:C537839 semapv:UnspecifiedMatching MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:exactMatch DOID:0080682 autosomal dominant familial visceral neuropathy semapv:UnspecifiedMatching MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:exactMatch OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant semapv:UnspecifiedMatching MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:exactMatch UMLS:C1864996 semapv:UnspecifiedMatching MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 skos:exactMatch OMIM:609630 leukemia, chronic lymphocytic, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0012319 major affective disorder 3 skos:exactMatch OMIM:609633 major affective disorder 3 semapv:UnspecifiedMatching MONDO:0012319 major affective disorder 3 skos:exactMatch UMLS:C1864994 semapv:UnspecifiedMatching MONDO:0012319 major affective disorder 3 skos:exactMatch mesh:C566501 semapv:UnspecifiedMatching MONDO:0012320 migraine, familial hemiplegic, 3 skos:exactMatch DOID:0111183 familial hemiplegic migraine 3 semapv:UnspecifiedMatching MONDO:0012320 migraine, familial hemiplegic, 3 skos:exactMatch OMIM:609634 migraine, familial hemiplegic, 3 semapv:UnspecifiedMatching MONDO:0012320 migraine, familial hemiplegic, 3 skos:exactMatch UMLS:C1864987 semapv:UnspecifiedMatching MONDO:0012320 migraine, familial hemiplegic, 3 skos:exactMatch mesh:C566500 semapv:UnspecifiedMatching MONDO:0012321 Alzheimer disease 10 skos:exactMatch DOID:0110043 Alzheimer's disease 10 semapv:UnspecifiedMatching MONDO:0012321 Alzheimer disease 10 skos:exactMatch OMIM:609636 alzheimer disease 10 semapv:UnspecifiedMatching MONDO:0012321 Alzheimer disease 10 skos:exactMatch UMLS:C1864828 semapv:UnspecifiedMatching MONDO:0012321 Alzheimer disease 10 skos:exactMatch mesh:C566465 semapv:UnspecifiedMatching MONDO:0012322 holoprosencephaly 5 skos:exactMatch DOID:0110878 holoprosencephaly 5 semapv:UnspecifiedMatching MONDO:0012322 holoprosencephaly 5 skos:exactMatch NCIT:C75460 Holoprosencephaly Type 5 semapv:UnspecifiedMatching MONDO:0012322 holoprosencephaly 5 skos:exactMatch OMIM:609637 holoprosencephaly 5 semapv:UnspecifiedMatching MONDO:0012322 holoprosencephaly 5 skos:exactMatch UMLS:C1864827 semapv:UnspecifiedMatching MONDO:0012322 holoprosencephaly 5 skos:exactMatch mesh:C566464 semapv:UnspecifiedMatching MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:exactMatch OMIM:609638 epidermolysis bullosa, lethal acantholytic semapv:UnspecifiedMatching MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:exactMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:UnspecifiedMatching MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:exactMatch UMLS:C1864826 semapv:UnspecifiedMatching MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:exactMatch mesh:C535493 semapv:UnspecifiedMatching MONDO:0012324 Frias syndrome skos:exactMatch OMIM:609640 frias syndrome semapv:UnspecifiedMatching MONDO:0012324 Frias syndrome skos:exactMatch Orphanet:264200 14q22q23 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012324 Frias syndrome skos:exactMatch UMLS:C1864825 semapv:UnspecifiedMatching MONDO:0012324 Frias syndrome skos:exactMatch mesh:C535639 semapv:UnspecifiedMatching MONDO:0012325 Nguyen syndrome skos:exactMatch OMIM:609643 nguyen syndrome semapv:UnspecifiedMatching MONDO:0012325 Nguyen syndrome skos:exactMatch UMLS:C1864823 semapv:UnspecifiedMatching MONDO:0012325 Nguyen syndrome skos:exactMatch mesh:C536115 semapv:UnspecifiedMatching MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:exactMatch DOID:0110500 autosomal recessive nonsyndromic deafness 42 semapv:UnspecifiedMatching MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:exactMatch OMIM:609646 deafness, autosomal recessive 42 semapv:UnspecifiedMatching MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:exactMatch UMLS:C1864818 semapv:UnspecifiedMatching MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:exactMatch mesh:C566460 semapv:UnspecifiedMatching MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:exactMatch DOID:0110503 autosomal recessive nonsyndromic deafness 46 semapv:UnspecifiedMatching MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:exactMatch OMIM:609647 deafness, autosomal recessive 46 semapv:UnspecifiedMatching MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:exactMatch UMLS:C1864815 semapv:UnspecifiedMatching MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:exactMatch mesh:C566459 semapv:UnspecifiedMatching MONDO:0012328 trichilemmal cyst skos:exactMatch OMIM:609649 trichilemmal cyst 1 semapv:UnspecifiedMatching MONDO:0012328 trichilemmal cyst skos:exactMatch SCTID:254677004 semapv:UnspecifiedMatching MONDO:0012328 trichilemmal cyst skos:exactMatch UMLS:C2266788 semapv:UnspecifiedMatching MONDO:0012329 short stature and Facioauriculothoracic malformations skos:exactMatch OMIM:609654 short stature and facioauriculothoracic malformations semapv:UnspecifiedMatching MONDO:0012329 short stature and Facioauriculothoracic malformations skos:exactMatch UMLS:C1864791 semapv:UnspecifiedMatching MONDO:0012329 short stature and Facioauriculothoracic malformations skos:exactMatch mesh:C566457 semapv:UnspecifiedMatching MONDO:0012330 talo-patello-scaphoid osteolysis skos:exactMatch OMIM:609655 talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals semapv:UnspecifiedMatching MONDO:0012330 talo-patello-scaphoid osteolysis skos:exactMatch Orphanet:50809 Talo-patello-scaphoid osteolysis semapv:UnspecifiedMatching MONDO:0012330 talo-patello-scaphoid osteolysis skos:exactMatch UMLS:C1864784 semapv:UnspecifiedMatching MONDO:0012330 talo-patello-scaphoid osteolysis skos:exactMatch mesh:C536894 semapv:UnspecifiedMatching MONDO:0012331 migraine with aura, susceptibility to, 9 skos:exactMatch OMIM:609670 migraine with aura, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:exactMatch DOID:0110509 autosomal recessive nonsyndromic deafness 53 semapv:UnspecifiedMatching MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:exactMatch OMIM:609706 deafness, autosomal recessive 53 semapv:UnspecifiedMatching MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:exactMatch UMLS:C1864746 semapv:UnspecifiedMatching MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:exactMatch mesh:C566453 semapv:UnspecifiedMatching MONDO:0012334 hereditary spastic paraplegia 29 skos:exactMatch DOID:0110780 hereditary spastic paraplegia 29 semapv:UnspecifiedMatching MONDO:0012334 hereditary spastic paraplegia 29 skos:exactMatch OMIM:609727 spastic paraplegia 29, autosomal dominant semapv:UnspecifiedMatching MONDO:0012334 hereditary spastic paraplegia 29 skos:exactMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:UnspecifiedMatching MONDO:0012334 hereditary spastic paraplegia 29 skos:exactMatch SCTID:733029008 semapv:UnspecifiedMatching MONDO:0012334 hereditary spastic paraplegia 29 skos:exactMatch UMLS:C1857855 semapv:UnspecifiedMatching MONDO:0012334 hereditary spastic paraplegia 29 skos:exactMatch mesh:C536863 semapv:UnspecifiedMatching MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:exactMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:UnspecifiedMatching MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:exactMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:UnspecifiedMatching MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:exactMatch SCTID:702949005 semapv:UnspecifiedMatching MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:exactMatch UMLS:C1857854 semapv:UnspecifiedMatching MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:exactMatch mesh:C565726 semapv:UnspecifiedMatching MONDO:0012336 cataract 22 multiple types skos:exactMatch DOID:0110268 cataract 22 multiple types semapv:UnspecifiedMatching MONDO:0012336 cataract 22 multiple types skos:exactMatch OMIM:609741 cataract 22, multiple types semapv:UnspecifiedMatching MONDO:0012336 cataract 22 multiple types skos:exactMatch UMLS:C1857853 semapv:UnspecifiedMatching MONDO:0012336 cataract 22 multiple types skos:exactMatch mesh:C565725 semapv:UnspecifiedMatching MONDO:0012337 obsolete glaucoma 1, open angle, I skos:exactMatch OMIM:609745 glaucoma 1, open angle, 1 semapv:UnspecifiedMatching MONDO:0012337 obsolete glaucoma 1, open angle, I skos:exactMatch UMLS:C1857852 semapv:UnspecifiedMatching MONDO:0012337 obsolete glaucoma 1, open angle, I skos:exactMatch mesh:C565724 semapv:UnspecifiedMatching MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 skos:exactMatch DOID:0111319 idiopathic generalized epilepsy 4 semapv:UnspecifiedMatching MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 skos:exactMatch OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012339 celiac disease, susceptibility to, 4 skos:exactMatch OMIM:609753 celiac disease, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012340 celiac disease, susceptibility to, 2 skos:exactMatch OMIM:609754 celiac disease, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012341 celiac disease, susceptibility to, 3 skos:exactMatch OMIM:609755 celiac disease, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012342 7q11.23 microduplication syndrome skos:exactMatch DOID:0080926 7q11.23 duplication syndrome semapv:UnspecifiedMatching MONDO:0012342 7q11.23 microduplication syndrome skos:exactMatch OMIM:609757 williams-beuren region duplication syndrome semapv:UnspecifiedMatching MONDO:0012342 7q11.23 microduplication syndrome skos:exactMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:UnspecifiedMatching MONDO:0012342 7q11.23 microduplication syndrome skos:exactMatch SCTID:726707004 semapv:UnspecifiedMatching MONDO:0012342 7q11.23 microduplication syndrome skos:exactMatch UMLS:C1857844 semapv:UnspecifiedMatching MONDO:0012342 7q11.23 microduplication syndrome skos:exactMatch mesh:C565723 semapv:UnspecifiedMatching MONDO:0012343 aortic aneurysm, familial abdominal, 2 skos:exactMatch OMIM:609782 aortic aneurysm, familial abdominal, 2 semapv:UnspecifiedMatching MONDO:0012343 aortic aneurysm, familial abdominal, 2 skos:exactMatch UMLS:C1853364 semapv:UnspecifiedMatching MONDO:0012343 aortic aneurysm, familial abdominal, 2 skos:exactMatch mesh:C565229 semapv:UnspecifiedMatching MONDO:0012344 Alzheimer disease 11 skos:exactMatch DOID:0110044 Alzheimer's disease 11 semapv:UnspecifiedMatching MONDO:0012344 Alzheimer disease 11 skos:exactMatch OMIM:609790 alzheimer disease 11 semapv:UnspecifiedMatching MONDO:0012344 Alzheimer disease 11 skos:exactMatch UMLS:C1853360 semapv:UnspecifiedMatching MONDO:0012344 Alzheimer disease 11 skos:exactMatch mesh:C565228 semapv:UnspecifiedMatching MONDO:0012345 acral peeling skin syndrome skos:exactMatch OMIM:609796 peeling skin syndrome 2 semapv:UnspecifiedMatching MONDO:0012345 acral peeling skin syndrome skos:exactMatch Orphanet:263534 Acral peeling skin syndrome semapv:UnspecifiedMatching MONDO:0012345 acral peeling skin syndrome skos:exactMatch SCTID:709416009 semapv:UnspecifiedMatching MONDO:0012345 acral peeling skin syndrome skos:exactMatch UMLS:C1853354 semapv:UnspecifiedMatching MONDO:0012345 acral peeling skin syndrome skos:exactMatch mesh:C536316 semapv:UnspecifiedMatching MONDO:0012346 generalized epilepsy with febrile seizures plus, type 4 skos:exactMatch DOID:0111293 generalized epilepsy with febrile seizures plus 4 semapv:UnspecifiedMatching MONDO:0012346 generalized epilepsy with febrile seizures plus, type 4 skos:exactMatch OMIM:609800 generalized epilepsy with febrile seizures plus, iia 4 semapv:UnspecifiedMatching MONDO:0012346 generalized epilepsy with febrile seizures plus, type 4 skos:exactMatch UMLS:C1853345 semapv:UnspecifiedMatching MONDO:0012346 generalized epilepsy with febrile seizures plus, type 4 skos:exactMatch mesh:C565227 semapv:UnspecifiedMatching MONDO:0012347 hamartoma, Precalcaneal congenital fibrolipomatous skos:exactMatch OMIM:609808 hamartoma, precalcaneal congenital fibrolipomatous semapv:UnspecifiedMatching MONDO:0012347 hamartoma, Precalcaneal congenital fibrolipomatous skos:exactMatch UMLS:C1853298 semapv:UnspecifiedMatching MONDO:0012347 hamartoma, Precalcaneal congenital fibrolipomatous skos:exactMatch mesh:C565226 semapv:UnspecifiedMatching MONDO:0012348 maturity-onset diabetes of the young type 8 skos:exactMatch DOID:0111105 maturity-onset diabetes of the young type 8 semapv:UnspecifiedMatching MONDO:0012348 maturity-onset diabetes of the young type 8 skos:exactMatch OMIM:609812 maturity-onset diabetes of the young, iia 8, with exocrine dysfunction semapv:UnspecifiedMatching MONDO:0012348 maturity-onset diabetes of the young type 8 skos:exactMatch SCTID:609575003 semapv:UnspecifiedMatching MONDO:0012348 maturity-onset diabetes of the young type 8 skos:exactMatch mesh:C565225 semapv:UnspecifiedMatching MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:exactMatch DOID:0112361 spondylocostal dysostosis 3 semapv:UnspecifiedMatching MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:exactMatch OMIM:609813 spondylocostal dysostosis 3, autosomal recessive semapv:UnspecifiedMatching MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:exactMatch UMLS:C1853296 semapv:UnspecifiedMatching MONDO:0012350 complement factor H deficiency skos:exactMatch OMIM:609814 complement factor h deficiency semapv:UnspecifiedMatching MONDO:0012350 complement factor H deficiency skos:exactMatch SCTID:234622003 semapv:UnspecifiedMatching MONDO:0012350 complement factor H deficiency skos:exactMatch mesh:C562875 semapv:UnspecifiedMatching MONDO:0012351 zygodactyly type 1 skos:exactMatch DOID:0111820 zygodactyly 1 semapv:UnspecifiedMatching MONDO:0012351 zygodactyly type 1 skos:exactMatch OMIM:609815 zygodactyly 1 semapv:UnspecifiedMatching MONDO:0012351 zygodactyly type 1 skos:exactMatch Orphanet:295187 Zygodactyly type 1 semapv:UnspecifiedMatching MONDO:0012351 zygodactyly type 1 skos:exactMatch UMLS:C1853294 semapv:UnspecifiedMatching MONDO:0012351 zygodactyly type 1 skos:exactMatch mesh:C565223 semapv:UnspecifiedMatching MONDO:0012352 vasculitis, lymphocytic, cutaneous small vessel skos:exactMatch OMIM:609817 vasculitis, lymphocytic, cutaneous small vessel semapv:UnspecifiedMatching MONDO:0012352 vasculitis, lymphocytic, cutaneous small vessel skos:exactMatch UMLS:C1853293 semapv:UnspecifiedMatching MONDO:0012352 vasculitis, lymphocytic, cutaneous small vessel skos:exactMatch mesh:C565222 semapv:UnspecifiedMatching MONDO:0012353 erythrocytosis, familial, 3 skos:exactMatch DOID:0080338 familial erythrocytosis 3 semapv:UnspecifiedMatching MONDO:0012353 erythrocytosis, familial, 3 skos:exactMatch OMIM:609820 erythrocytosis, familial, 3 semapv:UnspecifiedMatching MONDO:0012353 erythrocytosis, familial, 3 skos:exactMatch UMLS:C1853286 semapv:UnspecifiedMatching MONDO:0012353 erythrocytosis, familial, 3 skos:exactMatch mesh:C565221 semapv:UnspecifiedMatching MONDO:0012354 platelet-type bleeding disorder 8 skos:exactMatch DOID:0060692 platelet-type bleeding disorder 8 semapv:UnspecifiedMatching MONDO:0012354 platelet-type bleeding disorder 8 skos:exactMatch OMIM:609821 bleeding disorder, platelet-type, 8 semapv:UnspecifiedMatching MONDO:0012354 platelet-type bleeding disorder 8 skos:exactMatch Orphanet:36355 Bleeding disorder due to P2Y12 defect semapv:UnspecifiedMatching MONDO:0012354 platelet-type bleeding disorder 8 skos:exactMatch SCTID:725291001 semapv:UnspecifiedMatching MONDO:0012354 platelet-type bleeding disorder 8 skos:exactMatch UMLS:C1853278 semapv:UnspecifiedMatching MONDO:0012354 platelet-type bleeding disorder 8 skos:exactMatch mesh:C565220 semapv:UnspecifiedMatching MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:exactMatch DOID:0110486 autosomal recessive nonsyndromic deafness 28 semapv:UnspecifiedMatching MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:exactMatch NCIT:C129023 Deafness, Autosomal Recessive 28 semapv:UnspecifiedMatching MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:exactMatch OMIM:609823 deafness, autosomal recessive 28 semapv:UnspecifiedMatching MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:exactMatch UMLS:C1853276 semapv:UnspecifiedMatching MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:exactMatch mesh:C565218 semapv:UnspecifiedMatching MONDO:0012357 obsolete glaucoma 1, open angle, G skos:exactMatch OMIM:609887 glaucoma 1, open angle, g semapv:UnspecifiedMatching MONDO:0012357 obsolete glaucoma 1, open angle, G skos:exactMatch UMLS:C1835933 semapv:UnspecifiedMatching MONDO:0012357 obsolete glaucoma 1, open angle, G skos:exactMatch mesh:C563692 semapv:UnspecifiedMatching MONDO:0012358 leprosy, susceptibility to, 1 skos:exactMatch OMIM:609888 leprosy, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:exactMatch OMIM:609889 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity semapv:UnspecifiedMatching MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:exactMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:UnspecifiedMatching MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:exactMatch SCTID:725290000 semapv:UnspecifiedMatching MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:exactMatch UMLS:C1835931 semapv:UnspecifiedMatching MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:exactMatch mesh:C563691 semapv:UnspecifiedMatching MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:exactMatch DOID:0070127 congenital nongoitrous hypothyroidism 3 semapv:UnspecifiedMatching MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:exactMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:UnspecifiedMatching MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:exactMatch UMLS:C2940785 semapv:UnspecifiedMatching MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:exactMatch mesh:C567935 semapv:UnspecifiedMatching MONDO:0012361 systemic lupus erythematosus, susceptibility to, 5 skos:exactMatch OMIM:609903 systemic lupus erythematosus, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012362 dilated cardiomyopathy 1P skos:exactMatch DOID:0110439 dilated cardiomyopathy 1P semapv:UnspecifiedMatching MONDO:0012362 dilated cardiomyopathy 1P skos:exactMatch OMIM:609909 cardiomyopathy, dilated, 1p semapv:UnspecifiedMatching MONDO:0012362 dilated cardiomyopathy 1P skos:exactMatch UMLS:C1835928 semapv:UnspecifiedMatching MONDO:0012362 dilated cardiomyopathy 1P skos:exactMatch mesh:C563690 semapv:UnspecifiedMatching MONDO:0012363 retinitis pigmentosa 32 skos:exactMatch DOID:0110355 retinitis pigmentosa 32 semapv:UnspecifiedMatching MONDO:0012363 retinitis pigmentosa 32 skos:exactMatch OMIM:609913 retinitis pigmentosa 32 semapv:UnspecifiedMatching MONDO:0012363 retinitis pigmentosa 32 skos:exactMatch UMLS:C1835927 semapv:UnspecifiedMatching MONDO:0012363 retinitis pigmentosa 32 skos:exactMatch mesh:C563689 semapv:UnspecifiedMatching MONDO:0012364 dilated cardiomyopathy 1Q skos:exactMatch DOID:0110442 dilated cardiomyopathy 1Q semapv:UnspecifiedMatching MONDO:0012364 dilated cardiomyopathy 1Q skos:exactMatch OMIM:609915 cardiomyopathy, dilated, 1q semapv:UnspecifiedMatching MONDO:0012364 dilated cardiomyopathy 1Q skos:exactMatch UMLS:C1835926 semapv:UnspecifiedMatching MONDO:0012364 dilated cardiomyopathy 1Q skos:exactMatch mesh:C563688 semapv:UnspecifiedMatching MONDO:0012365 gallbladder disease 2 skos:exactMatch OMIM:609918 gallbladder disease 2 semapv:UnspecifiedMatching MONDO:0012365 gallbladder disease 2 skos:exactMatch UMLS:C1835925 semapv:UnspecifiedMatching MONDO:0012365 gallbladder disease 2 skos:exactMatch mesh:C563687 semapv:UnspecifiedMatching MONDO:0012366 gallbladder disease 3 skos:exactMatch OMIM:609919 gallbladder disease 3 semapv:UnspecifiedMatching MONDO:0012366 gallbladder disease 3 skos:exactMatch UMLS:C1835924 semapv:UnspecifiedMatching MONDO:0012366 gallbladder disease 3 skos:exactMatch mesh:C563686 semapv:UnspecifiedMatching MONDO:0012367 retinitis pigmentosa 31 skos:exactMatch DOID:0110391 retinitis pigmentosa 31 semapv:UnspecifiedMatching MONDO:0012367 retinitis pigmentosa 31 skos:exactMatch OMIM:609923 retinitis pigmentosa 31 semapv:UnspecifiedMatching MONDO:0012367 retinitis pigmentosa 31 skos:exactMatch UMLS:C1835923 semapv:UnspecifiedMatching MONDO:0012367 retinitis pigmentosa 31 skos:exactMatch mesh:C563685 semapv:UnspecifiedMatching MONDO:0012368 aminoacylase 1 deficiency skos:exactMatch OMIM:609924 aminoacylase 1 deficiency semapv:UnspecifiedMatching MONDO:0012368 aminoacylase 1 deficiency skos:exactMatch Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency semapv:UnspecifiedMatching MONDO:0012368 aminoacylase 1 deficiency skos:exactMatch SCTID:709282004 semapv:UnspecifiedMatching MONDO:0012368 aminoacylase 1 deficiency skos:exactMatch UMLS:C1835922 semapv:UnspecifiedMatching MONDO:0012368 aminoacylase 1 deficiency skos:exactMatch mesh:C538246 semapv:UnspecifiedMatching MONDO:0012369 systemic lupus erythematosus, susceptibility to, 6 skos:exactMatch OMIM:609939 systemic lupus erythematosus, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:exactMatch DOID:0110508 autosomal recessive nonsyndromic deafness 51 semapv:UnspecifiedMatching MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:exactMatch OMIM:609941 deafness, autosomal recessive 51 semapv:UnspecifiedMatching MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:exactMatch mesh:C538202 semapv:UnspecifiedMatching MONDO:0012371 Noonan syndrome 3 skos:exactMatch DOID:0060581 Noonan syndrome 3 semapv:UnspecifiedMatching MONDO:0012371 Noonan syndrome 3 skos:exactMatch NCIT:C176931 Noonan Syndrome 3 semapv:UnspecifiedMatching MONDO:0012371 Noonan syndrome 3 skos:exactMatch OMIM:609942 noonan syndrome 3 semapv:UnspecifiedMatching MONDO:0012371 Noonan syndrome 3 skos:exactMatch UMLS:C1860991 semapv:UnspecifiedMatching MONDO:0012371 Noonan syndrome 3 skos:exactMatch mesh:C537847 semapv:UnspecifiedMatching MONDO:0012373 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features skos:exactMatch OMIM:609944 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features semapv:UnspecifiedMatching MONDO:0012373 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features skos:exactMatch UMLS:C1864966 semapv:UnspecifiedMatching MONDO:0012373 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features skos:exactMatch mesh:C536182 semapv:UnspecifiedMatching MONDO:0012374 brachyphalangy, polydactyly, and tibial aplasia/hypoplasia skos:exactMatch OMIM:609945 brachyphalangy, polydactyly, and tibial aplasia/hypoplasia semapv:UnspecifiedMatching MONDO:0012374 brachyphalangy, polydactyly, and tibial aplasia/hypoplasia skos:exactMatch UMLS:C1864965 semapv:UnspecifiedMatching MONDO:0012374 brachyphalangy, polydactyly, and tibial aplasia/hypoplasia skos:exactMatch mesh:C537100 semapv:UnspecifiedMatching MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:exactMatch DOID:0110504 autosomal recessive nonsyndromic deafness 47 semapv:UnspecifiedMatching MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:exactMatch OMIM:609946 deafness, autosomal recessive 47 semapv:UnspecifiedMatching MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:exactMatch UMLS:C1864964 semapv:UnspecifiedMatching MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:exactMatch mesh:C566498 semapv:UnspecifiedMatching MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:exactMatch DOID:0110510 autosomal recessive nonsyndromic deafness 55 semapv:UnspecifiedMatching MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:exactMatch OMIM:609952 deafness, autosomal recessive 55 semapv:UnspecifiedMatching MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:exactMatch mesh:C538203 semapv:UnspecifiedMatching MONDO:0012377 asperger syndrome, susceptibility to, 4 skos:exactMatch OMIM:609954 asperger syndrome, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012378 fibromatosis, gingival, 3 skos:exactMatch OMIM:609955 fibromatosis, gingival, 3 semapv:UnspecifiedMatching MONDO:0012378 fibromatosis, gingival, 3 skos:exactMatch mesh:C537928 semapv:UnspecifiedMatching MONDO:0012379 asthma-related traits, susceptibility to, 3 skos:exactMatch OMIM:609958 asthma-related traits, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:exactMatch DOID:0110579 autosomal dominant nonsyndromic deafness 53 semapv:UnspecifiedMatching MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:exactMatch OMIM:609965 deafness, autosomal dominant 53 semapv:UnspecifiedMatching MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:exactMatch UMLS:C1864957 semapv:UnspecifiedMatching MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:exactMatch mesh:C566495 semapv:UnspecifiedMatching MONDO:0012381 hyperinsulinism due to INSR deficiency skos:exactMatch DOID:0070220 familial hyperinsulinemic hypoglycemia 5 semapv:UnspecifiedMatching MONDO:0012381 hyperinsulinism due to INSR deficiency skos:exactMatch OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 semapv:UnspecifiedMatching MONDO:0012381 hyperinsulinism due to INSR deficiency skos:exactMatch Orphanet:263458 Hyperinsulinism due to INSR deficiency semapv:UnspecifiedMatching MONDO:0012381 hyperinsulinism due to INSR deficiency skos:exactMatch SCTID:721235003 semapv:UnspecifiedMatching MONDO:0012381 hyperinsulinism due to INSR deficiency skos:exactMatch UMLS:C1864952 semapv:UnspecifiedMatching MONDO:0012381 hyperinsulinism due to INSR deficiency skos:exactMatch mesh:C566494 semapv:UnspecifiedMatching MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch DOID:0070215 familial hyperinsulinemic hypoglycemia 4 semapv:UnspecifiedMatching MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch OMIM:609975 hyperinsulinemic hypoglycemia, familial, 4 semapv:UnspecifiedMatching MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch SCTID:721236002 semapv:UnspecifiedMatching MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch UMLS:C1864948 semapv:UnspecifiedMatching MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch mesh:C566493 semapv:UnspecifiedMatching MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch DOID:0111967 immunodeficiency 54 semapv:UnspecifiedMatching MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch NCIT:C123729 Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect semapv:UnspecifiedMatching MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch OMIM:609981 immunodeficiency 54 semapv:UnspecifiedMatching MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:UnspecifiedMatching MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch SCTID:724275005 semapv:UnspecifiedMatching MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch UMLS:C1864947 semapv:UnspecifiedMatching MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch mesh:C566492 semapv:UnspecifiedMatching MONDO:0012384 panic disorder 3 skos:exactMatch OMIM:609985 panic disorder 3 semapv:UnspecifiedMatching MONDO:0012384 panic disorder 3 skos:exactMatch UMLS:C1864946 semapv:UnspecifiedMatching MONDO:0012385 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands skos:exactMatch OMIM:609989 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands semapv:UnspecifiedMatching MONDO:0012385 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands skos:exactMatch UMLS:C1864944 semapv:UnspecifiedMatching MONDO:0012385 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands skos:exactMatch mesh:C537354 semapv:UnspecifiedMatching MONDO:0012386 trichoscyphodysplasia skos:exactMatch OMIM:609990 trichoscyphodysplasia semapv:UnspecifiedMatching MONDO:0012386 trichoscyphodysplasia skos:exactMatch UMLS:C1864943 semapv:UnspecifiedMatching MONDO:0012386 trichoscyphodysplasia skos:exactMatch mesh:C536557 semapv:UnspecifiedMatching MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:exactMatch OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure semapv:UnspecifiedMatching MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:exactMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:UnspecifiedMatching MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:exactMatch SCTID:722114007 semapv:UnspecifiedMatching MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:exactMatch mesh:C536064 semapv:UnspecifiedMatching MONDO:0012388 myopia 11, autosomal dominant skos:exactMatch OMIM:609994 myopia 11, autosomal dominant semapv:UnspecifiedMatching MONDO:0012388 myopia 11, autosomal dominant skos:exactMatch UMLS:C1864941 semapv:UnspecifiedMatching MONDO:0012388 myopia 11, autosomal dominant skos:exactMatch mesh:C566490 semapv:UnspecifiedMatching MONDO:0012389 myopia 12, autosomal dominant skos:exactMatch OMIM:609995 myopia 12, autosomal dominant semapv:UnspecifiedMatching MONDO:0012389 myopia 12, autosomal dominant skos:exactMatch UMLS:C1864940 semapv:UnspecifiedMatching MONDO:0012389 myopia 12, autosomal dominant skos:exactMatch mesh:C566489 semapv:UnspecifiedMatching MONDO:0012390 arthrogryposis multiplex with deafness, inguinal hernias, and early death skos:exactMatch OMIM:610001 arthrogryposis multiplex with deafness, inguinal hernias, and early death semapv:UnspecifiedMatching MONDO:0012390 arthrogryposis multiplex with deafness, inguinal hernias, and early death skos:exactMatch UMLS:C1864939 semapv:UnspecifiedMatching MONDO:0012390 arthrogryposis multiplex with deafness, inguinal hernias, and early death skos:exactMatch mesh:C535381 semapv:UnspecifiedMatching MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:broadMatch ICD10CM:G40.3 Generalized idiopathic epilepsy and epileptic syndromes semapv:UnspecifiedMatching MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:exactMatch DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant semapv:UnspecifiedMatching MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:exactMatch OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant semapv:UnspecifiedMatching MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:exactMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:UnspecifiedMatching MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C98863 Butyryl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:exactMatch OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C1864912 semapv:UnspecifiedMatching MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:exactMatch mesh:C566487 semapv:UnspecifiedMatching MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:exactMatch OMIM:610015 glutamine deficiency, congenital semapv:UnspecifiedMatching MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:exactMatch Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency semapv:UnspecifiedMatching MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:exactMatch UMLS:C1864910 semapv:UnspecifiedMatching MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:exactMatch mesh:C536832 semapv:UnspecifiedMatching MONDO:0012394 multiple synostoses syndrome 2 skos:exactMatch DOID:0081318 multiple synostoses syndrome 2 semapv:UnspecifiedMatching MONDO:0012394 multiple synostoses syndrome 2 skos:exactMatch OMIM:610017 multiple synostoses syndrome 2 semapv:UnspecifiedMatching MONDO:0012394 multiple synostoses syndrome 2 skos:exactMatch UMLS:C1832708 semapv:UnspecifiedMatching MONDO:0012394 multiple synostoses syndrome 2 skos:exactMatch mesh:C537380 semapv:UnspecifiedMatching MONDO:0012395 cataract 18 skos:exactMatch DOID:0110238 cataract 18 semapv:UnspecifiedMatching MONDO:0012395 cataract 18 skos:exactMatch OMIM:610019 cataract 18 semapv:UnspecifiedMatching MONDO:0012395 cataract 18 skos:exactMatch mesh:C535337 semapv:UnspecifiedMatching MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch DOID:0070214 familial hyperinsulinemic hypoglycemia 7 semapv:UnspecifiedMatching MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch NCIT:C131839 Monocarboxylate Transporter 1 Hyperinsulinism semapv:UnspecifiedMatching MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:UnspecifiedMatching MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:UnspecifiedMatching MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch SCTID:715830008 semapv:UnspecifiedMatching MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch UMLS:C1864902 semapv:UnspecifiedMatching MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch mesh:C538376 semapv:UnspecifiedMatching MONDO:0012397 brachydactyly, coloboma, and anterior segment dysgenesis skos:exactMatch OMIM:610023 brachydactyly, coloboma, and anterior segment dysgenesis semapv:UnspecifiedMatching MONDO:0012397 brachydactyly, coloboma, and anterior segment dysgenesis skos:exactMatch UMLS:C1864901 semapv:UnspecifiedMatching MONDO:0012397 brachydactyly, coloboma, and anterior segment dysgenesis skos:exactMatch mesh:C566484 semapv:UnspecifiedMatching MONDO:0012398 retinal cone dystrophy 3A skos:exactMatch DOID:0081025 retinal cone dystrophy 3A semapv:UnspecifiedMatching MONDO:0012398 retinal cone dystrophy 3A skos:exactMatch OMIM:610024 retinal cone dystrophy 3a semapv:UnspecifiedMatching MONDO:0012398 retinal cone dystrophy 3A skos:exactMatch UMLS:C1864900 semapv:UnspecifiedMatching MONDO:0012398 retinal cone dystrophy 3A skos:exactMatch mesh:C566483 semapv:UnspecifiedMatching MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:exactMatch DOID:0090132 complex cortical dysplasia with other brain malformations 7 semapv:UnspecifiedMatching MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:exactMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:UnspecifiedMatching MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:exactMatch Orphanet:300573 Polymicrogyria due to TUBB2B mutation semapv:UnspecifiedMatching MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:exactMatch UMLS:C3552236 semapv:UnspecifiedMatching MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:exactMatch DOID:0090130 cortical dysplasia-focal epilepsy syndrome semapv:UnspecifiedMatching MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:exactMatch NCIT:C133743 Cortical Dysplasia-Focal Epilepsy Syndrome semapv:UnspecifiedMatching MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:exactMatch OMIM:610042 pitt-hopkins-like syndrome 1 semapv:UnspecifiedMatching MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:exactMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:UnspecifiedMatching MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:exactMatch mesh:C567657 semapv:UnspecifiedMatching MONDO:0012401 congenital stromal corneal dystrophy skos:exactMatch DOID:0060445 congenital stromal corneal dystrophy semapv:UnspecifiedMatching MONDO:0012401 congenital stromal corneal dystrophy skos:exactMatch OMIM:610048 corneal dystrophy, congenital stromal semapv:UnspecifiedMatching MONDO:0012401 congenital stromal corneal dystrophy skos:exactMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:UnspecifiedMatching MONDO:0012401 congenital stromal corneal dystrophy skos:exactMatch SCTID:702359002 semapv:UnspecifiedMatching MONDO:0012401 congenital stromal corneal dystrophy skos:exactMatch UMLS:C1864738 semapv:UnspecifiedMatching MONDO:0012401 congenital stromal corneal dystrophy skos:exactMatch mesh:C566452 semapv:UnspecifiedMatching MONDO:0012402 opioid dependence, susceptibility to, 1 skos:exactMatch OMIM:610064 opioid dependence, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0012403 systemic lupus erythematosus, susceptibility to, 7 skos:exactMatch OMIM:610065 systemic lupus erythematosus, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012404 systemic lupus erythematosus, susceptibility to, 8 skos:exactMatch OMIM:610066 systemic lupus erythematosus, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012405 polyposis syndrome, hereditary mixed, 2 skos:exactMatch DOID:0111686 hereditary mixed polyposis syndrome 2 semapv:UnspecifiedMatching MONDO:0012405 polyposis syndrome, hereditary mixed, 2 skos:exactMatch OMIM:610069 polyposis syndrome, hereditary mixed, 2 semapv:UnspecifiedMatching MONDO:0012405 polyposis syndrome, hereditary mixed, 2 skos:exactMatch UMLS:C1864730 semapv:UnspecifiedMatching MONDO:0012405 polyposis syndrome, hereditary mixed, 2 skos:exactMatch mesh:C566451 semapv:UnspecifiedMatching MONDO:0012406 hyperparathyroidism 3 skos:exactMatch OMIM:610071 hyperparathyroidism 3 semapv:UnspecifiedMatching MONDO:0012406 hyperparathyroidism 3 skos:exactMatch UMLS:C1864729 semapv:UnspecifiedMatching MONDO:0012406 hyperparathyroidism 3 skos:exactMatch mesh:C566450 semapv:UnspecifiedMatching MONDO:0012407 pyridoxal phosphate-responsive seizures skos:exactMatch DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency semapv:UnspecifiedMatching MONDO:0012407 pyridoxal phosphate-responsive seizures skos:exactMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:UnspecifiedMatching MONDO:0012407 pyridoxal phosphate-responsive seizures skos:exactMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:UnspecifiedMatching MONDO:0012407 pyridoxal phosphate-responsive seizures skos:exactMatch SCTID:724576005 semapv:UnspecifiedMatching MONDO:0012407 pyridoxal phosphate-responsive seizures skos:exactMatch UMLS:C1864723 semapv:UnspecifiedMatching MONDO:0012407 pyridoxal phosphate-responsive seizures skos:exactMatch mesh:C566449 semapv:UnspecifiedMatching MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:exactMatch OMIM:610092 microphthalmia, isolated, with coloboma 3 semapv:UnspecifiedMatching MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:exactMatch UMLS:C1864721 semapv:UnspecifiedMatching MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:exactMatch mesh:C566447 semapv:UnspecifiedMatching MONDO:0012409 isolated microphthalmia 2 skos:exactMatch DOID:0060839 isolated microphthalmia 2 semapv:UnspecifiedMatching MONDO:0012409 isolated microphthalmia 2 skos:exactMatch OMIM:610093 microphthalmia, isolated 2 semapv:UnspecifiedMatching MONDO:0012409 isolated microphthalmia 2 skos:exactMatch UMLS:C1864720 semapv:UnspecifiedMatching MONDO:0012409 isolated microphthalmia 2 skos:exactMatch mesh:C566446 semapv:UnspecifiedMatching MONDO:0012410 Finnish upper limb-onset distal myopathy skos:exactMatch DOID:0111189 distal myopathy 3 semapv:UnspecifiedMatching MONDO:0012410 Finnish upper limb-onset distal myopathy skos:exactMatch OMIM:610099 myopathy, distal, 3 semapv:UnspecifiedMatching MONDO:0012410 Finnish upper limb-onset distal myopathy skos:exactMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:UnspecifiedMatching MONDO:0012410 Finnish upper limb-onset distal myopathy skos:exactMatch SCTID:763718009 semapv:UnspecifiedMatching MONDO:0012410 Finnish upper limb-onset distal myopathy skos:exactMatch UMLS:C1864706 semapv:UnspecifiedMatching MONDO:0012411 giant axonal neuropathy 2 skos:exactMatch DOID:0090069 giant axonal neuropathy 2 semapv:UnspecifiedMatching MONDO:0012411 giant axonal neuropathy 2 skos:exactMatch OMIM:610100 giant axonal neuropathy 2, autosomal dominant semapv:UnspecifiedMatching MONDO:0012411 giant axonal neuropathy 2 skos:exactMatch Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:UnspecifiedMatching MONDO:0012411 giant axonal neuropathy 2 skos:exactMatch UMLS:C1864695 semapv:UnspecifiedMatching MONDO:0012412 complement component 7 deficiency skos:exactMatch DOID:0060300 complement component 7 deficiency semapv:UnspecifiedMatching MONDO:0012412 complement component 7 deficiency skos:exactMatch OMIM:610102 complement component 7 deficiency semapv:UnspecifiedMatching MONDO:0012412 complement component 7 deficiency skos:exactMatch UMLS:C1864694 semapv:UnspecifiedMatching MONDO:0012412 complement component 7 deficiency skos:exactMatch mesh:C566443 semapv:UnspecifiedMatching MONDO:0012413 syndromic microphthalmia type 5 skos:exactMatch DOID:0111806 syndromic microphthalmia 5 semapv:UnspecifiedMatching MONDO:0012413 syndromic microphthalmia type 5 skos:exactMatch OMIM:610125 microphthalmia, syndromic 5 semapv:UnspecifiedMatching MONDO:0012413 syndromic microphthalmia type 5 skos:exactMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:UnspecifiedMatching MONDO:0012413 syndromic microphthalmia type 5 skos:exactMatch SCTID:718761007 semapv:UnspecifiedMatching MONDO:0012413 syndromic microphthalmia type 5 skos:exactMatch UMLS:C1864690 semapv:UnspecifiedMatching MONDO:0012413 syndromic microphthalmia type 5 skos:exactMatch mesh:C566441 semapv:UnspecifiedMatching MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:exactMatch DOID:0110725 neuronal ceroid lipofuscinosis 10 semapv:UnspecifiedMatching MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:exactMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:UnspecifiedMatching MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:exactMatch Orphanet:228337 OBSOLETE: CLN10 disease semapv:UnspecifiedMatching MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:exactMatch SCTID:720831008 semapv:UnspecifiedMatching MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:exactMatch mesh:C566438 semapv:UnspecifiedMatching MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:exactMatch DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 semapv:UnspecifiedMatching MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:exactMatch OMIM:610131 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 semapv:UnspecifiedMatching MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:exactMatch UMLS:C1864668 semapv:UnspecifiedMatching MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:exactMatch mesh:C566437 semapv:UnspecifiedMatching MONDO:0012416 Devriendt syndrome skos:exactMatch OMIM:610136 devriendt syndrome semapv:UnspecifiedMatching MONDO:0012416 Devriendt syndrome skos:exactMatch UMLS:C1857830 semapv:UnspecifiedMatching MONDO:0012416 Devriendt syndrome skos:exactMatch mesh:C535947 semapv:UnspecifiedMatching MONDO:0012417 heart-hand syndrome, Slovenian type skos:exactMatch OMIM:610140 heart-hand syndrome, slovenian iia semapv:UnspecifiedMatching MONDO:0012417 heart-hand syndrome, Slovenian type skos:exactMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:UnspecifiedMatching MONDO:0012417 heart-hand syndrome, Slovenian type skos:exactMatch SCTID:721014007 semapv:UnspecifiedMatching MONDO:0012417 heart-hand syndrome, Slovenian type skos:exactMatch UMLS:C1857829 semapv:UnspecifiedMatching MONDO:0012417 heart-hand syndrome, Slovenian type skos:exactMatch mesh:C535852 semapv:UnspecifiedMatching MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:exactMatch DOID:0110514 autosomal recessive nonsyndromic deafness 62 semapv:UnspecifiedMatching MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:exactMatch OMIM:610143 deafness, autosomal recessive 62 semapv:UnspecifiedMatching MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:exactMatch UMLS:C1857820 semapv:UnspecifiedMatching MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:exactMatch mesh:C565719 semapv:UnspecifiedMatching MONDO:0012419 age related macular degeneration 7 skos:exactMatch DOID:0110019 age related macular degeneration 7 semapv:UnspecifiedMatching MONDO:0012419 age related macular degeneration 7 skos:exactMatch OMIM:610149 macular degeneration, age-related, 7 semapv:UnspecifiedMatching MONDO:0012419 age related macular degeneration 7 skos:exactMatch UMLS:C1857813 semapv:UnspecifiedMatching MONDO:0012419 age related macular degeneration 7 skos:exactMatch mesh:C565718 semapv:UnspecifiedMatching MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:exactMatch DOID:0110506 autosomal recessive nonsyndromic deafness 49 semapv:UnspecifiedMatching MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:exactMatch NCIT:C129024 Deafness, Autosomal Recessive 49 semapv:UnspecifiedMatching MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:exactMatch OMIM:610153 deafness, autosomal recessive 49 semapv:UnspecifiedMatching MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:exactMatch UMLS:C1857811 semapv:UnspecifiedMatching MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:exactMatch mesh:C565717 semapv:UnspecifiedMatching MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:exactMatch DOID:0110501 autosomal recessive nonsyndromic deafness 44 semapv:UnspecifiedMatching MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:exactMatch OMIM:610154 deafness, autosomal recessive 44 semapv:UnspecifiedMatching MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:exactMatch UMLS:C1857809 semapv:UnspecifiedMatching MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:exactMatch mesh:C565716 semapv:UnspecifiedMatching MONDO:0012422 type 1 diabetes mellitus 19 skos:exactMatch DOID:0110756 type 1 diabetes mellitus 19 semapv:UnspecifiedMatching MONDO:0012422 type 1 diabetes mellitus 19 skos:exactMatch OMIM:610155 iia 1 diabetes mellitus 19 semapv:UnspecifiedMatching MONDO:0012422 type 1 diabetes mellitus 19 skos:exactMatch UMLS:C1857808 semapv:UnspecifiedMatching MONDO:0012422 type 1 diabetes mellitus 19 skos:exactMatch mesh:C565715 semapv:UnspecifiedMatching MONDO:0012423 MORM syndrome skos:exactMatch OMIM:610156 impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome semapv:UnspecifiedMatching MONDO:0012423 MORM syndrome skos:exactMatch Orphanet:75858 MORM syndrome semapv:UnspecifiedMatching MONDO:0012423 MORM syndrome skos:exactMatch SCTID:715628009 semapv:UnspecifiedMatching MONDO:0012423 MORM syndrome skos:exactMatch UMLS:C1857802 semapv:UnspecifiedMatching MONDO:0012423 MORM syndrome skos:exactMatch mesh:C536984 semapv:UnspecifiedMatching MONDO:0012424 obsolete heat-shock RNA 1 skos:exactMatch OMIM:610157 heat-shock RNA 1 semapv:UnspecifiedMatching MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:exactMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:UnspecifiedMatching MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:exactMatch UMLS:C1857800 semapv:UnspecifiedMatching MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:exactMatch mesh:C535479 semapv:UnspecifiedMatching MONDO:0012426 immunodeficiency 25 skos:exactMatch DOID:0060007 CD3zeta deficiency semapv:UnspecifiedMatching MONDO:0012426 immunodeficiency 25 skos:exactMatch DOID:0111942 immunodeficiency 25 semapv:UnspecifiedMatching MONDO:0012426 immunodeficiency 25 skos:exactMatch OMIM:610163 immunodeficiency 25 semapv:UnspecifiedMatching MONDO:0012426 immunodeficiency 25 skos:exactMatch UMLS:C1857798 semapv:UnspecifiedMatching MONDO:0012426 immunodeficiency 25 skos:exactMatch mesh:C565712 semapv:UnspecifiedMatching MONDO:0012427 Loeys-Dietz syndrome 2 skos:exactMatch DOID:0070234 Loeys-Dietz syndrome 2 semapv:UnspecifiedMatching MONDO:0012427 Loeys-Dietz syndrome 2 skos:exactMatch NCIT:C114768 Loeys-Dietz Syndrome Type 2 semapv:UnspecifiedMatching MONDO:0012427 Loeys-Dietz syndrome 2 skos:exactMatch OMIM:610168 loeys-dietz syndrome 2 semapv:UnspecifiedMatching MONDO:0012427 Loeys-Dietz syndrome 2 skos:exactMatch mesh:C537783 semapv:UnspecifiedMatching MONDO:0012428 kyphoscoliosis 1 skos:exactMatch OMIM:610170 kyphoscoliosis 1 semapv:UnspecifiedMatching MONDO:0012428 kyphoscoliosis 1 skos:exactMatch UMLS:C1857795 semapv:UnspecifiedMatching MONDO:0012428 kyphoscoliosis 1 skos:exactMatch mesh:C565711 semapv:UnspecifiedMatching MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:exactMatch NCIT:C165673 Aicardi-Goutieres Syndrome 2 semapv:UnspecifiedMatching MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:exactMatch OMIM:610181 aicardi-goutieres syndrome 2 semapv:UnspecifiedMatching MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:exactMatch UMLS:C3489724 semapv:UnspecifiedMatching MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:exactMatch OMIM:610185 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:UnspecifiedMatching MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:exactMatch UMLS:C2750234 semapv:UnspecifiedMatching MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:exactMatch mesh:C567656 semapv:UnspecifiedMatching MONDO:0012431 diaphragmatic hernia 3 skos:exactMatch OMIM:610187 diaphragmatic hernia 3 semapv:UnspecifiedMatching MONDO:0012431 diaphragmatic hernia 3 skos:exactMatch mesh:C565710 semapv:UnspecifiedMatching MONDO:0012432 Joubert syndrome 5 skos:exactMatch DOID:0111000 Joubert syndrome 5 semapv:UnspecifiedMatching MONDO:0012432 Joubert syndrome 5 skos:exactMatch OMIM:610188 joubert syndrome 5 semapv:UnspecifiedMatching MONDO:0012432 Joubert syndrome 5 skos:exactMatch UMLS:C1857780 semapv:UnspecifiedMatching MONDO:0012432 Joubert syndrome 5 skos:exactMatch mesh:C537688 semapv:UnspecifiedMatching MONDO:0012433 Senior-Loken syndrome 6 skos:exactMatch OMIM:610189 senior-loken syndrome 6 semapv:UnspecifiedMatching MONDO:0012433 Senior-Loken syndrome 6 skos:exactMatch UMLS:C1857779 semapv:UnspecifiedMatching MONDO:0012433 Senior-Loken syndrome 6 skos:exactMatch mesh:C565708 semapv:UnspecifiedMatching MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:exactMatch DOID:0110081 arrhythmogenic right ventricular dysplasia 10 semapv:UnspecifiedMatching MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:exactMatch OMIM:610193 arrhythmogenic right ventricular dysplasia, familial, 10 semapv:UnspecifiedMatching MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:exactMatch UMLS:C1857777 semapv:UnspecifiedMatching MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:exactMatch mesh:C565707 semapv:UnspecifiedMatching MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch DOID:0110000 3-methylglutaconic aciduria type 5 semapv:UnspecifiedMatching MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch NCIT:C173146 3-Methylglutaconic Aciduria Type 5 semapv:UnspecifiedMatching MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch OMIM:610198 3-methylglutaconic aciduria, iia 5 semapv:UnspecifiedMatching MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:UnspecifiedMatching MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch SCTID:711412004 semapv:UnspecifiedMatching MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch UMLS:C1857776 semapv:UnspecifiedMatching MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch mesh:C565706 semapv:UnspecifiedMatching MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:exactMatch DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism semapv:UnspecifiedMatching MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:exactMatch OMIM:610199 diabetes mellitus, neonatal, with congenital hypothyroidism semapv:UnspecifiedMatching MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:exactMatch Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome semapv:UnspecifiedMatching MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:exactMatch UMLS:C1857775 semapv:UnspecifiedMatching MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:exactMatch mesh:C565705 semapv:UnspecifiedMatching MONDO:0012437 cataract 21 multiple types skos:exactMatch DOID:0110256 cataract 21 multiple types semapv:UnspecifiedMatching MONDO:0012437 cataract 21 multiple types skos:exactMatch OMIM:610202 cataract 21, multiple types semapv:UnspecifiedMatching MONDO:0012437 cataract 21 multiple types skos:exactMatch mesh:C565703 semapv:UnspecifiedMatching MONDO:0012438 pontocerebellar hypoplasia type 5 skos:exactMatch DOID:0060274 pontocerebellar hypoplasia type 5 semapv:UnspecifiedMatching MONDO:0012438 pontocerebellar hypoplasia type 5 skos:exactMatch OMIM:610204 pontocerebellar hypoplasia, iia 5 semapv:UnspecifiedMatching MONDO:0012438 pontocerebellar hypoplasia type 5 skos:exactMatch SCTID:718607001 semapv:UnspecifiedMatching MONDO:0012438 pontocerebellar hypoplasia type 5 skos:exactMatch UMLS:C1857762 semapv:UnspecifiedMatching MONDO:0012438 pontocerebellar hypoplasia type 5 skos:exactMatch mesh:C537745 semapv:UnspecifiedMatching MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:exactMatch OMIM:610205 alagille syndrome 2 semapv:UnspecifiedMatching MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:exactMatch Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation semapv:UnspecifiedMatching MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:exactMatch UMLS:C1857761 semapv:UnspecifiedMatching MONDO:0012440 migraine with or without aura, susceptibility to, 10 skos:exactMatch OMIM:610208 migraine with or without aura, susceptibility to, 10 semapv:UnspecifiedMatching MONDO:0012441 migraine with or without aura, susceptibility to, 11 skos:exactMatch OMIM:610209 migraine with or without aura, susceptibility to, 11 semapv:UnspecifiedMatching MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:exactMatch DOID:0110517 autosomal recessive nonsyndromic deafness 66 semapv:UnspecifiedMatching MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:exactMatch OMIM:610212 deafness, autosomal recessive 66 semapv:UnspecifiedMatching MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:exactMatch UMLS:C1857750 semapv:UnspecifiedMatching MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:exactMatch mesh:C565701 semapv:UnspecifiedMatching MONDO:0012443 aneurysm, intracranial berry, 4 skos:exactMatch DOID:0080967 intracranial berry aneurysm 4 semapv:UnspecifiedMatching MONDO:0012443 aneurysm, intracranial berry, 4 skos:exactMatch OMIM:610213 aneurysm, intracranial berry, 4 semapv:UnspecifiedMatching MONDO:0012443 aneurysm, intracranial berry, 4 skos:exactMatch UMLS:C1857749 semapv:UnspecifiedMatching MONDO:0012443 aneurysm, intracranial berry, 4 skos:exactMatch mesh:C565700 semapv:UnspecifiedMatching MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:exactMatch DOID:0110736 neurodegeneration with brain iron accumulation 2b semapv:UnspecifiedMatching MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:exactMatch OMIM:610217 neurodegeneration with brain iron accumulation 2b semapv:UnspecifiedMatching MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:exactMatch DOID:0110511 autosomal recessive nonsyndromic deafness 59 semapv:UnspecifiedMatching MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:exactMatch OMIM:610220 deafness, autosomal recessive 59 semapv:UnspecifiedMatching MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:exactMatch UMLS:C1857744 semapv:UnspecifiedMatching MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:exactMatch mesh:C565698 semapv:UnspecifiedMatching MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:exactMatch OMIM:610227 seborrhea-like dermatitis with psoriasiform elements semapv:UnspecifiedMatching MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:exactMatch Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements semapv:UnspecifiedMatching MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:exactMatch UMLS:C1853258 semapv:UnspecifiedMatching MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:exactMatch mesh:C565217 semapv:UnspecifiedMatching MONDO:0012447 synpolydactyly type 3 skos:exactMatch OMIM:610234 synpolydactyly 3 semapv:UnspecifiedMatching MONDO:0012447 synpolydactyly type 3 skos:exactMatch Orphanet:295199 Synpolydactyly type 3 semapv:UnspecifiedMatching MONDO:0012447 synpolydactyly type 3 skos:exactMatch UMLS:C1853255 semapv:UnspecifiedMatching MONDO:0012447 synpolydactyly type 3 skos:exactMatch mesh:C565216 semapv:UnspecifiedMatching MONDO:0012448 hereditary spastic paraplegia 33 skos:exactMatch DOID:0110784 hereditary spastic paraplegia 33 semapv:UnspecifiedMatching MONDO:0012448 hereditary spastic paraplegia 33 skos:exactMatch OMIM:610244 spastic paraplegia 33, autosomal dominant semapv:UnspecifiedMatching MONDO:0012448 hereditary spastic paraplegia 33 skos:exactMatch UMLS:C1853251 semapv:UnspecifiedMatching MONDO:0012448 hereditary spastic paraplegia 33 skos:exactMatch mesh:C565214 semapv:UnspecifiedMatching MONDO:0012449 spinocerebellar ataxia type 23 skos:exactMatch DOID:0050973 spinocerebellar ataxia type 23 semapv:UnspecifiedMatching MONDO:0012449 spinocerebellar ataxia type 23 skos:exactMatch OMIM:610245 spinocerebellar ataxia 23 semapv:UnspecifiedMatching MONDO:0012449 spinocerebellar ataxia type 23 skos:exactMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:UnspecifiedMatching MONDO:0012449 spinocerebellar ataxia type 23 skos:exactMatch SCTID:718772002 semapv:UnspecifiedMatching MONDO:0012449 spinocerebellar ataxia type 23 skos:exactMatch UMLS:C1853250 semapv:UnspecifiedMatching MONDO:0012449 spinocerebellar ataxia type 23 skos:exactMatch mesh:C537201 semapv:UnspecifiedMatching MONDO:0012450 spinocerebellar ataxia type 28 skos:exactMatch DOID:0050977 spinocerebellar ataxia type 28 semapv:UnspecifiedMatching MONDO:0012450 spinocerebellar ataxia type 28 skos:exactMatch OMIM:610246 spinocerebellar ataxia 28 semapv:UnspecifiedMatching MONDO:0012450 spinocerebellar ataxia type 28 skos:exactMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:UnspecifiedMatching MONDO:0012450 spinocerebellar ataxia type 28 skos:exactMatch SCTID:715824008 semapv:UnspecifiedMatching MONDO:0012450 spinocerebellar ataxia type 28 skos:exactMatch UMLS:C1853249 semapv:UnspecifiedMatching MONDO:0012450 spinocerebellar ataxia type 28 skos:exactMatch mesh:C537205 semapv:UnspecifiedMatching MONDO:0012451 esophagitis, eosinophilic, 1 skos:exactMatch OMIM:610247 esophagitis, eosinophilic, 1 semapv:UnspecifiedMatching MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:exactMatch DOID:0110516 autosomal recessive nonsyndromic deafness 65 semapv:UnspecifiedMatching MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:exactMatch OMIM:610248 deafness, autosomal recessive 65 semapv:UnspecifiedMatching MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:exactMatch UMLS:C1853248 semapv:UnspecifiedMatching MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:exactMatch mesh:C565211 semapv:UnspecifiedMatching MONDO:0012453 hereditary spastic paraplegia 31 skos:exactMatch DOID:0110782 hereditary spastic paraplegia 31 semapv:UnspecifiedMatching MONDO:0012453 hereditary spastic paraplegia 31 skos:exactMatch OMIM:610250 spastic paraplegia 31, autosomal dominant semapv:UnspecifiedMatching MONDO:0012453 hereditary spastic paraplegia 31 skos:exactMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:UnspecifiedMatching MONDO:0012453 hereditary spastic paraplegia 31 skos:exactMatch SCTID:763068005 semapv:UnspecifiedMatching MONDO:0012453 hereditary spastic paraplegia 31 skos:exactMatch UMLS:C1853247 semapv:UnspecifiedMatching MONDO:0012453 hereditary spastic paraplegia 31 skos:exactMatch mesh:C565210 semapv:UnspecifiedMatching MONDO:0012454 alcohol sensitivity, acute skos:exactMatch OMIM:610251 alcohol sensitivity, acute semapv:UnspecifiedMatching MONDO:0012455 Kleefstra syndrome skos:exactMatch DOID:0080597 Kleefstra syndrome semapv:UnspecifiedMatching MONDO:0012455 Kleefstra syndrome skos:exactMatch OMIMPS:610253 semapv:UnspecifiedMatching MONDO:0012455 Kleefstra syndrome skos:exactMatch Orphanet:261494 Kleefstra syndrome semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia skos:exactMatch DOID:0080607 anterior segment dysgenesis 2 semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia skos:exactMatch DOID:11367 congenital aphakia semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia skos:exactMatch ICD10CM:Q12.3 Congenital aphakia semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia skos:exactMatch NCIT:C35172 Congenital Aphakia semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia skos:exactMatch OMIM:610256 anterior segment dysgenesis 2 semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia skos:exactMatch Orphanet:83461 Congenital primary aphakia semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia skos:exactMatch SCTID:35387008 semapv:UnspecifiedMatching MONDO:0012456 congenital primary aphakia skos:exactMatch mesh:C537786 semapv:UnspecifiedMatching MONDO:0012457 pyloric stenosis, infantile hypertrophic, 2 skos:exactMatch OMIM:610260 pyloric stenosis, infantile hypertrophic, 2 semapv:UnspecifiedMatching MONDO:0012457 pyloric stenosis, infantile hypertrophic, 2 skos:exactMatch UMLS:C1853228 semapv:UnspecifiedMatching MONDO:0012457 pyloric stenosis, infantile hypertrophic, 2 skos:exactMatch mesh:C565208 semapv:UnspecifiedMatching MONDO:0012458 hypertension, essential, susceptibility to, 5 skos:exactMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012459 hypertension, essential, susceptibility to, 6 skos:exactMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:exactMatch DOID:0110518 autosomal recessive nonsyndromic deafness 67 semapv:UnspecifiedMatching MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:exactMatch OMIM:610265 deafness, autosomal recessive 67 semapv:UnspecifiedMatching MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:exactMatch UMLS:C1853223 semapv:UnspecifiedMatching MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:exactMatch mesh:C565207 semapv:UnspecifiedMatching MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2 skos:exactMatch OMIM:610269 semapv:UnspecifiedMatching MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:exactMatch OMIM:610279 pachygyria, frontotemporal semapv:UnspecifiedMatching MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:exactMatch Orphanet:329329 Autosomal recessive frontotemporal pachygyria semapv:UnspecifiedMatching MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:exactMatch UMLS:C1853215 semapv:UnspecifiedMatching MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:exactMatch mesh:C538092 semapv:UnspecifiedMatching MONDO:0012463 retinitis pigmentosa 35 skos:exactMatch DOID:0110357 retinitis pigmentosa 35 semapv:UnspecifiedMatching MONDO:0012463 retinitis pigmentosa 35 skos:exactMatch OMIM:610282 retinitis pigmentosa 35 semapv:UnspecifiedMatching MONDO:0012463 retinitis pigmentosa 35 skos:exactMatch UMLS:C1853214 semapv:UnspecifiedMatching MONDO:0012463 retinitis pigmentosa 35 skos:exactMatch mesh:C565206 semapv:UnspecifiedMatching MONDO:0012464 cone-rod dystrophy 10 skos:exactMatch DOID:0111017 cone-rod dystrophy 10 semapv:UnspecifiedMatching MONDO:0012464 cone-rod dystrophy 10 skos:exactMatch OMIM:610283 cone-rod dystrophy 10 semapv:UnspecifiedMatching MONDO:0012464 cone-rod dystrophy 10 skos:exactMatch UMLS:C1846529 semapv:UnspecifiedMatching MONDO:0012464 cone-rod dystrophy 10 skos:exactMatch mesh:C564597 semapv:UnspecifiedMatching MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:exactMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:UnspecifiedMatching MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:exactMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:UnspecifiedMatching MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:exactMatch SCTID:724344004 semapv:UnspecifiedMatching MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:exactMatch UMLS:C5201145 semapv:UnspecifiedMatching MONDO:0012466 Parkinson disease 13, autosomal dominant, susceptibility to skos:exactMatch OMIM:610297 parkinson disease 13, autosomal dominant, susceptibility to semapv:UnspecifiedMatching MONDO:0012466 Parkinson disease 13, autosomal dominant, susceptibility to skos:exactMatch mesh:C565204 semapv:UnspecifiedMatching MONDO:0012467 cold-induced sweating syndrome 2 skos:exactMatch DOID:0080330 cold-induced sweating syndrome 2 semapv:UnspecifiedMatching MONDO:0012467 cold-induced sweating syndrome 2 skos:exactMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:UnspecifiedMatching MONDO:0012467 cold-induced sweating syndrome 2 skos:exactMatch UMLS:C1853198 semapv:UnspecifiedMatching MONDO:0012467 cold-induced sweating syndrome 2 skos:exactMatch mesh:C564791 semapv:UnspecifiedMatching MONDO:0012468 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa skos:exactMatch OMIM:610319 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa semapv:UnspecifiedMatching MONDO:0012468 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa skos:exactMatch UMLS:C1853197 semapv:UnspecifiedMatching MONDO:0012468 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa skos:exactMatch mesh:C537610 semapv:UnspecifiedMatching MONDO:0012469 myopia 14 skos:exactMatch OMIM:610320 myopia 14 semapv:UnspecifiedMatching MONDO:0012469 myopia 14 skos:exactMatch UMLS:C1853196 semapv:UnspecifiedMatching MONDO:0012469 myopia 14 skos:exactMatch mesh:C565202 semapv:UnspecifiedMatching MONDO:0012470 prostate cancer, hereditary, 7 skos:exactMatch OMIM:610321 prostate cancer, hereditary, 7 semapv:UnspecifiedMatching MONDO:0012470 prostate cancer, hereditary, 7 skos:exactMatch UMLS:C1853195 semapv:UnspecifiedMatching MONDO:0012470 prostate cancer, hereditary, 7 skos:exactMatch mesh:C565201 semapv:UnspecifiedMatching MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:exactMatch OMIM:610329 aicardi-goutieres syndrome 3 semapv:UnspecifiedMatching MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:exactMatch UMLS:C1835916 semapv:UnspecifiedMatching MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:exactMatch mesh:C563683 semapv:UnspecifiedMatching MONDO:0012472 Aicardi-Goutieres syndrome 4 skos:exactMatch OMIM:610333 aicardi-goutieres syndrome 4 semapv:UnspecifiedMatching MONDO:0012472 Aicardi-Goutieres syndrome 4 skos:exactMatch UMLS:C1835912 semapv:UnspecifiedMatching MONDO:0012472 Aicardi-Goutieres syndrome 4 skos:exactMatch mesh:C563681 semapv:UnspecifiedMatching MONDO:0012473 right pulmonary artery, anomalous origin of, familial skos:exactMatch OMIM:610338 right pulmonary artery, anomalous origin of, familial semapv:UnspecifiedMatching MONDO:0012473 right pulmonary artery, anomalous origin of, familial skos:exactMatch UMLS:C1835910 semapv:UnspecifiedMatching MONDO:0012473 right pulmonary artery, anomalous origin of, familial skos:exactMatch mesh:C535681 semapv:UnspecifiedMatching MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:exactMatch DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 semapv:UnspecifiedMatching MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:exactMatch DOID:0081119 benign familial infantile seizures 6 semapv:UnspecifiedMatching MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:exactMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:UnspecifiedMatching MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:exactMatch UMLS:C1835905 semapv:UnspecifiedMatching MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:exactMatch mesh:C563679 semapv:UnspecifiedMatching MONDO:0012475 cone dystrophy with supernormal rod response skos:exactMatch DOID:0081022 retinal cone dystrophy 3B semapv:UnspecifiedMatching MONDO:0012475 cone dystrophy with supernormal rod response skos:exactMatch OMIM:610356 retinal cone dystrophy 3b semapv:UnspecifiedMatching MONDO:0012475 cone dystrophy with supernormal rod response skos:exactMatch Orphanet:209932 Cone dystrophy with supernormal rod response semapv:UnspecifiedMatching MONDO:0012475 cone dystrophy with supernormal rod response skos:exactMatch SCTID:719455002 semapv:UnspecifiedMatching MONDO:0012475 cone dystrophy with supernormal rod response skos:exactMatch UMLS:C1835897 semapv:UnspecifiedMatching MONDO:0012475 cone dystrophy with supernormal rod response skos:exactMatch mesh:C563678 semapv:UnspecifiedMatching MONDO:0012476 hereditary spastic paraplegia 30 skos:exactMatch DOID:0110781 hereditary spastic paraplegia 30 semapv:UnspecifiedMatching MONDO:0012476 hereditary spastic paraplegia 30 skos:exactMatch OMIM:610357 spastic paraplegia 30, autosomal dominant semapv:UnspecifiedMatching MONDO:0012476 hereditary spastic paraplegia 30 skos:exactMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:UnspecifiedMatching MONDO:0012476 hereditary spastic paraplegia 30 skos:exactMatch SCTID:763377006 semapv:UnspecifiedMatching MONDO:0012476 hereditary spastic paraplegia 30 skos:exactMatch UMLS:C5235139 semapv:UnspecifiedMatching MONDO:0012476 hereditary spastic paraplegia 30 skos:exactMatch mesh:C563677 semapv:UnspecifiedMatching MONDO:0012477 retinitis pigmentosa 33 skos:exactMatch DOID:0110366 retinitis pigmentosa 33 semapv:UnspecifiedMatching MONDO:0012477 retinitis pigmentosa 33 skos:exactMatch OMIM:610359 retinitis pigmentosa 33 semapv:UnspecifiedMatching MONDO:0012477 retinitis pigmentosa 33 skos:exactMatch UMLS:C1835895 semapv:UnspecifiedMatching MONDO:0012477 retinitis pigmentosa 33 skos:exactMatch mesh:C563676 semapv:UnspecifiedMatching MONDO:0012478 orofacial cleft 9 skos:exactMatch DOID:0080402 orofacial cleft 9 semapv:UnspecifiedMatching MONDO:0012478 orofacial cleft 9 skos:exactMatch OMIM:610361 orofacial cleft 9 semapv:UnspecifiedMatching MONDO:0012478 orofacial cleft 9 skos:exactMatch UMLS:C1835894 semapv:UnspecifiedMatching MONDO:0012478 orofacial cleft 9 skos:exactMatch mesh:C563675 semapv:UnspecifiedMatching MONDO:0012479 congenital malabsorptive diarrhea 4 skos:exactMatch DOID:0060779 congenital malabsorptive diarrhea 4 semapv:UnspecifiedMatching MONDO:0012479 congenital malabsorptive diarrhea 4 skos:exactMatch OMIM:610370 diarrhea 4, malabsorptive, congenital semapv:UnspecifiedMatching MONDO:0012479 congenital malabsorptive diarrhea 4 skos:exactMatch Orphanet:83620 Enteric anendocrinosis semapv:UnspecifiedMatching MONDO:0012479 congenital malabsorptive diarrhea 4 skos:exactMatch SCTID:722392003 semapv:UnspecifiedMatching MONDO:0012479 congenital malabsorptive diarrhea 4 skos:exactMatch UMLS:C1835888 semapv:UnspecifiedMatching MONDO:0012479 congenital malabsorptive diarrhea 4 skos:exactMatch mesh:C563673 semapv:UnspecifiedMatching MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:exactMatch OMIM:610374 diabetes mellitus, transient neonatal, 2 semapv:UnspecifiedMatching MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:exactMatch SCTID:609580007 semapv:UnspecifiedMatching MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:exactMatch UMLS:C1835887 semapv:UnspecifiedMatching MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:exactMatch mesh:C563672 semapv:UnspecifiedMatching MONDO:0012481 mevalonic aciduria skos:exactMatch DOID:0050452 mevalonic aciduria semapv:UnspecifiedMatching MONDO:0012481 mevalonic aciduria skos:exactMatch NCIT:C84890 Mevalonate Kinase Deficiency semapv:UnspecifiedMatching MONDO:0012481 mevalonic aciduria skos:exactMatch OMIM:610377 mevalonic aciduria semapv:UnspecifiedMatching MONDO:0012481 mevalonic aciduria skos:exactMatch Orphanet:29 Mevalonic aciduria semapv:UnspecifiedMatching MONDO:0012481 mevalonic aciduria skos:exactMatch SCTID:718558008 semapv:UnspecifiedMatching MONDO:0012481 mevalonic aciduria skos:exactMatch UMLS:C1959626 semapv:UnspecifiedMatching MONDO:0012482 West Nile virus, susceptibility to skos:exactMatch OMIM:610379 west nile virus, susceptibility to semapv:UnspecifiedMatching MONDO:0012483 cone-rod dystrophy 11 skos:exactMatch DOID:0111018 cone-rod dystrophy 11 semapv:UnspecifiedMatching MONDO:0012483 cone-rod dystrophy 11 skos:exactMatch OMIM:610381 cone-rod dystrophy 11 semapv:UnspecifiedMatching MONDO:0012483 cone-rod dystrophy 11 skos:exactMatch UMLS:C1835865 semapv:UnspecifiedMatching MONDO:0012483 cone-rod dystrophy 11 skos:exactMatch mesh:C563671 semapv:UnspecifiedMatching MONDO:0012484 prosopagnosia, hereditary skos:exactMatch OMIM:610382 prosopagnosia, hereditary semapv:UnspecifiedMatching MONDO:0012484 prosopagnosia, hereditary skos:exactMatch UMLS:C2931455 semapv:UnspecifiedMatching MONDO:0012484 prosopagnosia, hereditary skos:exactMatch mesh:C537242 semapv:UnspecifiedMatching MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:exactMatch DOID:0110519 autosomal recessive nonsyndromic deafness 68 semapv:UnspecifiedMatching MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:exactMatch OMIM:610419 deafness, autosomal recessive 68 semapv:UnspecifiedMatching MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:exactMatch UMLS:C1835854 semapv:UnspecifiedMatching MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:exactMatch mesh:C563669 semapv:UnspecifiedMatching MONDO:0012486 preauricular tag, isolated, autosomal dominant, 1 skos:exactMatch OMIM:610420 preauricular tag, isolated, autosomal dominant, 1 semapv:UnspecifiedMatching MONDO:0012486 preauricular tag, isolated, autosomal dominant, 1 skos:exactMatch UMLS:C1968893 semapv:UnspecifiedMatching MONDO:0012486 preauricular tag, isolated, autosomal dominant, 1 skos:exactMatch mesh:C566904 semapv:UnspecifiedMatching MONDO:0012487 alopecia-intellectual disability syndrome 2 skos:exactMatch DOID:0080629 alopecia-mental retardation syndrome 2 semapv:UnspecifiedMatching MONDO:0012487 alopecia-intellectual disability syndrome 2 skos:exactMatch OMIM:610422 alopecia-intellectual disability syndrome 2 semapv:UnspecifiedMatching MONDO:0012487 alopecia-intellectual disability syndrome 2 skos:exactMatch UMLS:C1835852 semapv:UnspecifiedMatching MONDO:0012487 alopecia-intellectual disability syndrome 2 skos:exactMatch mesh:C563668 semapv:UnspecifiedMatching MONDO:0012488 hepatitis B virus, susceptibility to skos:exactMatch OMIM:610424 hepatitis B virus, susceptibility to semapv:UnspecifiedMatching MONDO:0012488 hepatitis B virus, susceptibility to skos:exactMatch UMLS:C1864880 semapv:UnspecifiedMatching MONDO:0012489 cataract 23 skos:exactMatch DOID:0110271 cataract 23 semapv:UnspecifiedMatching MONDO:0012489 cataract 23 skos:exactMatch OMIM:610425 cataract 23, multiple types semapv:UnspecifiedMatching MONDO:0012489 cataract 23 skos:exactMatch UMLS:C3808012 semapv:UnspecifiedMatching MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:exactMatch OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive semapv:UnspecifiedMatching MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:exactMatch UMLS:C4041558 semapv:UnspecifiedMatching MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:exactMatch OMIM:610430 macroglobulinemia, waldenstrom, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012492 restless legs syndrome, susceptibility to, 3 skos:exactMatch OMIM:610438 restless legs syndrome, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012493 restless legs syndrome, susceptibility to, 4 skos:exactMatch OMIM:610439 restless legs syndrome, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012494 testicular microlithiasis skos:exactMatch OMIM:610441 testicular microlithiasis semapv:UnspecifiedMatching MONDO:0012494 testicular microlithiasis skos:exactMatch UMLS:C1864873 semapv:UnspecifiedMatching MONDO:0012494 testicular microlithiasis skos:exactMatch mesh:C566478 semapv:UnspecifiedMatching MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:exactMatch DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type semapv:UnspecifiedMatching MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:exactMatch OMIM:610442 spondyloepimetaphyseal dysplasia, genevieve iia semapv:UnspecifiedMatching MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:exactMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:UnspecifiedMatching MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:exactMatch UMLS:C1864872 semapv:UnspecifiedMatching MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:exactMatch mesh:C535785 semapv:UnspecifiedMatching MONDO:0012496 Koolen-de Vries syndrome skos:exactMatch OMIM:610443 koolen-de vries syndrome semapv:UnspecifiedMatching MONDO:0012496 Koolen-de Vries syndrome skos:exactMatch Orphanet:96169 Koolen-De Vries syndrome semapv:UnspecifiedMatching MONDO:0012496 Koolen-de Vries syndrome skos:exactMatch UMLS:C1864871 semapv:UnspecifiedMatching MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:exactMatch DOID:0110715 congenital stationary night blindness autosomal dominant 3 semapv:UnspecifiedMatching MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:exactMatch OMIM:610444 night blindness, congenital stationary, autosomal dominant 3 semapv:UnspecifiedMatching MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:exactMatch UMLS:C1864870 semapv:UnspecifiedMatching MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:exactMatch mesh:C566475 semapv:UnspecifiedMatching MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:exactMatch DOID:0110862 congenital stationary night blindness autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:exactMatch OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:exactMatch UMLS:C1864869 semapv:UnspecifiedMatching MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:exactMatch mesh:C566474 semapv:UnspecifiedMatching MONDO:0012499 Buruli ulcer, susceptibility to skos:exactMatch OMIM:610446 buruli ulcer, susceptibility to semapv:UnspecifiedMatching MONDO:0012500 chilblain lupus 1 skos:exactMatch OMIM:610448 chilblain lupus 1 semapv:UnspecifiedMatching MONDO:0012500 chilblain lupus 1 skos:exactMatch UMLS:C0024145 semapv:UnspecifiedMatching MONDO:0012501 obsolete mutagen sensitivity skos:exactMatch OMIM:610452 mutagen sensitivity semapv:UnspecifiedMatching MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:exactMatch DOID:0080170 normophosphatemic familial tumoral calcinosis semapv:UnspecifiedMatching MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:exactMatch OMIM:610455 tumoral calcinosis, normophosphatemic, familial semapv:UnspecifiedMatching MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:exactMatch Orphanet:306658 Familial normophosphatemic tumoral calcinosis semapv:UnspecifiedMatching MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:exactMatch mesh:C566473 semapv:UnspecifiedMatching MONDO:0012503 thiopurine S-methyltransferase deficiency skos:exactMatch DOID:0080172 thiopurine S-methyltransferase deficiency semapv:UnspecifiedMatching MONDO:0012503 thiopurine S-methyltransferase deficiency skos:exactMatch NCIT:C4389 Thiopurine Methyltransferase Deficiency semapv:UnspecifiedMatching MONDO:0012503 thiopurine S-methyltransferase deficiency skos:exactMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:UnspecifiedMatching MONDO:0012503 thiopurine S-methyltransferase deficiency skos:exactMatch SCTID:238012003 semapv:UnspecifiedMatching MONDO:0012503 thiopurine S-methyltransferase deficiency skos:exactMatch mesh:C536512 semapv:UnspecifiedMatching MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:UnspecifiedMatching MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome semapv:UnspecifiedMatching MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:UnspecifiedMatching MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch UMLS:C1864852 semapv:UnspecifiedMatching MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch mesh:C537975 semapv:UnspecifiedMatching MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:exactMatch OMIM:610475 pigmented nodular adrenocortical disease, primary, 2 semapv:UnspecifiedMatching MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:exactMatch UMLS:C1864851 semapv:UnspecifiedMatching MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:exactMatch mesh:C566472 semapv:UnspecifiedMatching MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:exactMatch DOID:0110082 arrhythmogenic right ventricular dysplasia 11 semapv:UnspecifiedMatching MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:exactMatch OMIM:610476 arrhythmogenic right ventricular dysplasia, familial, 11 semapv:UnspecifiedMatching MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:exactMatch mesh:C566471 semapv:UnspecifiedMatching MONDO:0012507 retinal cone dystrophy 4 skos:exactMatch DOID:0081023 retinal cone dystrophy 4 semapv:UnspecifiedMatching MONDO:0012507 retinal cone dystrophy 4 skos:exactMatch OMIM:610478 retinal cone dystrophy 4 semapv:UnspecifiedMatching MONDO:0012507 retinal cone dystrophy 4 skos:exactMatch UMLS:C1864849 semapv:UnspecifiedMatching MONDO:0012507 retinal cone dystrophy 4 skos:exactMatch mesh:C566470 semapv:UnspecifiedMatching MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:exactMatch OMIM:610483 agammaglobulinemia, microcephaly, and severe dermatitis semapv:UnspecifiedMatching MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:exactMatch Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome semapv:UnspecifiedMatching MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:exactMatch SCTID:722281001 semapv:UnspecifiedMatching MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:exactMatch UMLS:C1864848 semapv:UnspecifiedMatching MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:exactMatch mesh:C538055 semapv:UnspecifiedMatching MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:exactMatch OMIM:610489 pigmented nodular adrenocortical disease, primary, 1 semapv:UnspecifiedMatching MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:exactMatch mesh:C566469 semapv:UnspecifiedMatching MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:exactMatch DOID:0111483 combined oxidative phosphorylation deficiency 2 semapv:UnspecifiedMatching MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:exactMatch OMIM:610498 combined oxidative phosphorylation deficiency 2 semapv:UnspecifiedMatching MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:exactMatch Orphanet:254920 Combined oxidative phosphorylation defect type 2 semapv:UnspecifiedMatching MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:exactMatch SCTID:764943000 semapv:UnspecifiedMatching MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:exactMatch UMLS:C1864843 semapv:UnspecifiedMatching MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:exactMatch mesh:C566468 semapv:UnspecifiedMatching MONDO:0012511 preterm premature rupture of the membranes skos:exactMatch DOID:0111144 preterm premature rupture of the membranes semapv:UnspecifiedMatching MONDO:0012511 preterm premature rupture of the membranes skos:exactMatch NCIT:C92862 Preterm Premature Rupture of Membrane semapv:UnspecifiedMatching MONDO:0012511 preterm premature rupture of the membranes skos:exactMatch OMIM:610504 preterm premature rupture of the membranes semapv:UnspecifiedMatching MONDO:0012511 preterm premature rupture of the membranes skos:exactMatch SCTID:312974005 semapv:UnspecifiedMatching MONDO:0012511 preterm premature rupture of the membranes skos:exactMatch mesh:C563032 semapv:UnspecifiedMatching MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:exactMatch DOID:0111486 combined oxidative phosphorylation deficiency 3 semapv:UnspecifiedMatching MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:exactMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:UnspecifiedMatching MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:exactMatch Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 semapv:UnspecifiedMatching MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:exactMatch SCTID:720951008 semapv:UnspecifiedMatching MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:exactMatch mesh:C566467 semapv:UnspecifiedMatching MONDO:0012513 maturity-onset diabetes of the young type 7 skos:exactMatch DOID:0111106 maturity-onset diabetes of the young type 7 semapv:UnspecifiedMatching MONDO:0012513 maturity-onset diabetes of the young type 7 skos:exactMatch OMIM:610508 maturity-onset diabetes of the young, iia 7 semapv:UnspecifiedMatching MONDO:0012513 maturity-onset diabetes of the young type 7 skos:exactMatch SCTID:609574004 semapv:UnspecifiedMatching MONDO:0012513 maturity-onset diabetes of the young type 7 skos:exactMatch UMLS:C1864839 semapv:UnspecifiedMatching MONDO:0012513 maturity-onset diabetes of the young type 7 skos:exactMatch mesh:C566466 semapv:UnspecifiedMatching MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch DOID:0060793 hypomyelinating leukodystrophy 5 semapv:UnspecifiedMatching MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch OMIM:610532 leukodystrophy, hypomyelinating, 5 semapv:UnspecifiedMatching MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:UnspecifiedMatching MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch SCTID:702379005 semapv:UnspecifiedMatching MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch UMLS:C1864663 semapv:UnspecifiedMatching MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch mesh:C567166 semapv:UnspecifiedMatching MONDO:0012515 glaucoma 1, open angle, M skos:exactMatch OMIM:610535 glaucoma 1, open angle, m semapv:UnspecifiedMatching MONDO:0012515 glaucoma 1, open angle, M skos:exactMatch UMLS:C1864653 semapv:UnspecifiedMatching MONDO:0012515 glaucoma 1, open angle, M skos:exactMatch mesh:C566436 semapv:UnspecifiedMatching MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:exactMatch DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type semapv:UnspecifiedMatching MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:exactMatch OMIM:610536 mandibulofacial dysostosis, guion-almeida iia semapv:UnspecifiedMatching MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:exactMatch Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome semapv:UnspecifiedMatching MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:exactMatch SCTID:711543008 semapv:UnspecifiedMatching MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:exactMatch UMLS:C1864652 semapv:UnspecifiedMatching MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:exactMatch mesh:C537405 semapv:UnspecifiedMatching MONDO:0012517 Gaucher disease due to saposin C deficiency skos:exactMatch DOID:0110961 atypical Gaucher's disease due to saposin c deficiency semapv:UnspecifiedMatching MONDO:0012517 Gaucher disease due to saposin C deficiency skos:exactMatch OMIM:610539 gaucher disease, atypical, due to saposin c deficiency semapv:UnspecifiedMatching MONDO:0012517 Gaucher disease due to saposin C deficiency skos:exactMatch Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency semapv:UnspecifiedMatching MONDO:0012517 Gaucher disease due to saposin C deficiency skos:exactMatch UMLS:C1864651 semapv:UnspecifiedMatching MONDO:0012517 Gaucher disease due to saposin C deficiency skos:exactMatch mesh:C566435 semapv:UnspecifiedMatching MONDO:0012518 congenital myasthenic syndrome 12 skos:exactMatch DOID:0110660 congenital myasthenic syndrome 12 semapv:UnspecifiedMatching MONDO:0012518 congenital myasthenic syndrome 12 skos:exactMatch NCIT:C168997 Congenital Myasthenic Syndrome 12 semapv:UnspecifiedMatching MONDO:0012518 congenital myasthenic syndrome 12 skos:exactMatch OMIM:610542 myasthenic syndrome, congenital, 12 semapv:UnspecifiedMatching MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:exactMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:UnspecifiedMatching MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:exactMatch Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion semapv:UnspecifiedMatching MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:exactMatch UMLS:C1864648 semapv:UnspecifiedMatching MONDO:0012520 insulin-resistance syndrome type A skos:exactMatch NCIT:C131836 Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism semapv:UnspecifiedMatching MONDO:0012520 insulin-resistance syndrome type A skos:exactMatch OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans semapv:UnspecifiedMatching MONDO:0012520 insulin-resistance syndrome type A skos:exactMatch Orphanet:2297 Insulin-resistance syndrome type A semapv:UnspecifiedMatching MONDO:0012520 insulin-resistance syndrome type A skos:exactMatch mesh:C562710 semapv:UnspecifiedMatching MONDO:0012521 herpes simplex encephalitis skos:exactMatch NCIT:C84762 Herpes Simplex Encephalitis semapv:UnspecifiedMatching MONDO:0012521 herpes simplex encephalitis skos:exactMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:UnspecifiedMatching MONDO:0012521 herpes simplex encephalitis skos:exactMatch mesh:D020803 semapv:UnspecifiedMatching MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:exactMatch OMIM:610582 diabetes mellitus, transient neonatal, 3 semapv:UnspecifiedMatching MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:exactMatch SCTID:609581006 semapv:UnspecifiedMatching MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:exactMatch mesh:C566432 semapv:UnspecifiedMatching MONDO:0012523 retinitis pigmentosa 36 skos:exactMatch DOID:0110405 retinitis pigmentosa 36 semapv:UnspecifiedMatching MONDO:0012523 retinitis pigmentosa 36 skos:exactMatch OMIM:610599 retinitis pigmentosa 36 semapv:UnspecifiedMatching MONDO:0012523 retinitis pigmentosa 36 skos:exactMatch UMLS:C1864621 semapv:UnspecifiedMatching MONDO:0012523 retinitis pigmentosa 36 skos:exactMatch mesh:C566431 semapv:UnspecifiedMatching MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:exactMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:UnspecifiedMatching MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:exactMatch UMLS:C3463917 semapv:UnspecifiedMatching MONDO:0012525 Leber congenital amaurosis 12 skos:exactMatch DOID:0110080 Leber congenital amaurosis 12 semapv:UnspecifiedMatching MONDO:0012525 Leber congenital amaurosis 12 skos:exactMatch OMIM:610612 leber congenital amaurosis 12 semapv:UnspecifiedMatching MONDO:0012525 Leber congenital amaurosis 12 skos:exactMatch mesh:C565697 semapv:UnspecifiedMatching MONDO:0012526 hereditary angioedema type 3 skos:exactMatch DOID:0080940 hereditary angioedema type III semapv:UnspecifiedMatching MONDO:0012526 hereditary angioedema type 3 skos:exactMatch OMIM:610618 angioedema, hereditary, 3 semapv:UnspecifiedMatching MONDO:0012526 hereditary angioedema type 3 skos:exactMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:UnspecifiedMatching MONDO:0012526 hereditary angioedema type 3 skos:exactMatch SCTID:427167008 semapv:UnspecifiedMatching MONDO:0012526 hereditary angioedema type 3 skos:exactMatch mesh:D056828 semapv:UnspecifiedMatching MONDO:0012527 cataract 11 multiple types skos:exactMatch DOID:0110249 cataract 11 multiple types semapv:UnspecifiedMatching MONDO:0012527 cataract 11 multiple types skos:exactMatch OMIM:610623 cataract 11, multiple types semapv:UnspecifiedMatching MONDO:0012527 cataract 11 multiple types skos:exactMatch mesh:C535344 semapv:UnspecifiedMatching MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:exactMatch DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia semapv:UnspecifiedMatching MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:exactMatch OMIM:610628 hypogonadotropic hypogonadism 4 with or without anosmia semapv:UnspecifiedMatching MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:exactMatch UMLS:C3552343 semapv:UnspecifiedMatching MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:exactMatch mesh:C565696 semapv:UnspecifiedMatching MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch DOID:0111887 Diamond-blackfan anemia 3 semapv:UnspecifiedMatching MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch NCIT:C176912 Diamond-Blackfan Anemia 3 semapv:UnspecifiedMatching MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch OMIM:610629 diamond-blackfan anemia 3 semapv:UnspecifiedMatching MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch UMLS:C1857719 semapv:UnspecifiedMatching MONDO:0012529 Diamond-Blackfan anemia 3 skos:exactMatch mesh:C536355 semapv:UnspecifiedMatching MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:exactMatch OMIM:610644 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal semapv:UnspecifiedMatching MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:exactMatch Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome semapv:UnspecifiedMatching MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:exactMatch mesh:C567165 semapv:UnspecifiedMatching MONDO:0012531 xeroderma pigmentosum group B skos:exactMatch DOID:0110850 xeroderma pigmentosum group B semapv:UnspecifiedMatching MONDO:0012531 xeroderma pigmentosum group B skos:exactMatch NCIT:C3966 Xeroderma Pigmentosum, Complementation Group B semapv:UnspecifiedMatching MONDO:0012531 xeroderma pigmentosum group B skos:exactMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:UnspecifiedMatching MONDO:0012531 xeroderma pigmentosum group B skos:exactMatch SCTID:1073003 semapv:UnspecifiedMatching MONDO:0012531 xeroderma pigmentosum group B skos:exactMatch UMLS:C0268136 semapv:UnspecifiedMatching MONDO:0012531 xeroderma pigmentosum group B skos:exactMatch mesh:C562590 semapv:UnspecifiedMatching MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 skos:exactMatch OMIM:610655 telangiectasia, hereditary hemorrhagic, iia 4 semapv:UnspecifiedMatching MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 skos:exactMatch mesh:C565691 semapv:UnspecifiedMatching MONDO:0012533 autism, susceptibility to, 7 skos:exactMatch OMIM:610676 autism, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:exactMatch DOID:0111494 combined oxidative phosphorylation deficiency 4 semapv:UnspecifiedMatching MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:exactMatch OMIM:610678 combined oxidative phosphorylation deficiency 4 semapv:UnspecifiedMatching MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:exactMatch Orphanet:254925 Combined oxidative phosphorylation defect type 4 semapv:UnspecifiedMatching MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:exactMatch SCTID:766876004 semapv:UnspecifiedMatching MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:exactMatch UMLS:C1857682 semapv:UnspecifiedMatching MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:exactMatch mesh:C565690 semapv:UnspecifiedMatching MONDO:0012535 holoprosencephaly, recurrent infections, and monocytosis skos:exactMatch OMIM:610680 holoprosencephaly, recurrent infections, and monocytosis semapv:UnspecifiedMatching MONDO:0012535 holoprosencephaly, recurrent infections, and monocytosis skos:exactMatch UMLS:C1853187 semapv:UnspecifiedMatching MONDO:0012535 holoprosencephaly, recurrent infections, and monocytosis skos:exactMatch mesh:C538328 semapv:UnspecifiedMatching MONDO:0012536 osteogenesis imperfecta type 7 skos:exactMatch DOID:0110337 osteogenesis imperfecta type 7 semapv:UnspecifiedMatching MONDO:0012536 osteogenesis imperfecta type 7 skos:exactMatch OMIM:610682 osteogenesis imperfecta, iia 7 semapv:UnspecifiedMatching MONDO:0012536 osteogenesis imperfecta type 7 skos:exactMatch SCTID:254111008 semapv:UnspecifiedMatching MONDO:0012536 osteogenesis imperfecta type 7 skos:exactMatch UMLS:C1853162 semapv:UnspecifiedMatching MONDO:0012537 split-hand/foot malformation with long bone deficiency 2 skos:exactMatch OMIM:610685 split-hand/foot malformation with long bone deficiency 2 semapv:UnspecifiedMatching MONDO:0012537 split-hand/foot malformation with long bone deficiency 2 skos:exactMatch UMLS:C1853156 semapv:UnspecifiedMatching MONDO:0012537 split-hand/foot malformation with long bone deficiency 2 skos:exactMatch mesh:C565199 semapv:UnspecifiedMatching MONDO:0012538 nemaline myopathy 7 skos:exactMatch DOID:0110934 nemaline myopathy 7 semapv:UnspecifiedMatching MONDO:0012538 nemaline myopathy 7 skos:exactMatch OMIM:610687 nemaline myopathy 7 semapv:UnspecifiedMatching MONDO:0012538 nemaline myopathy 7 skos:exactMatch UMLS:C1853154 semapv:UnspecifiedMatching MONDO:0012538 nemaline myopathy 7 skos:exactMatch mesh:C565198 semapv:UnspecifiedMatching MONDO:0012539 Joubert syndrome 6 skos:exactMatch DOID:0111001 Joubert syndrome 6 semapv:UnspecifiedMatching MONDO:0012539 Joubert syndrome 6 skos:exactMatch OMIM:610688 joubert syndrome 6 semapv:UnspecifiedMatching MONDO:0012539 Joubert syndrome 6 skos:exactMatch UMLS:C1853153 semapv:UnspecifiedMatching MONDO:0012539 Joubert syndrome 6 skos:exactMatch mesh:C537689 semapv:UnspecifiedMatching MONDO:0012540 age related macular degeneration 4 skos:exactMatch DOID:0110017 age related macular degeneration 4 semapv:UnspecifiedMatching MONDO:0012540 age related macular degeneration 4 skos:exactMatch OMIM:610698 macular degeneration, age-related, 4 semapv:UnspecifiedMatching MONDO:0012540 age related macular degeneration 4 skos:exactMatch UMLS:C1853147 semapv:UnspecifiedMatching MONDO:0012540 age related macular degeneration 4 skos:exactMatch mesh:C565196 semapv:UnspecifiedMatching MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:exactMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:UnspecifiedMatching MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:exactMatch Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia semapv:UnspecifiedMatching MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:exactMatch SCTID:702360007 semapv:UnspecifiedMatching MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:exactMatch UMLS:C1853144 semapv:UnspecifiedMatching MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:exactMatch mesh:C565195 semapv:UnspecifiedMatching MONDO:0012542 psoriasis 8, susceptibility to skos:exactMatch DOID:0111288 psoriasis 8 semapv:UnspecifiedMatching MONDO:0012542 psoriasis 8, susceptibility to skos:exactMatch OMIM:610707 psoriasis 8, susceptibility to semapv:UnspecifiedMatching MONDO:0012543 optic atrophy 5 skos:exactMatch DOID:0111438 optic atrophy 5 semapv:UnspecifiedMatching MONDO:0012543 optic atrophy 5 skos:exactMatch OMIM:610708 optic atrophy 5 semapv:UnspecifiedMatching MONDO:0012543 optic atrophy 5 skos:exactMatch UMLS:C1853139 semapv:UnspecifiedMatching MONDO:0012543 optic atrophy 5 skos:exactMatch mesh:C537126 semapv:UnspecifiedMatching MONDO:0012544 brachydactyly-syndactyly syndrome skos:exactMatch DOID:0050689 brachydactyly-syndactyly syndrome semapv:UnspecifiedMatching MONDO:0012544 brachydactyly-syndactyly syndrome skos:exactMatch OMIM:610713 brachydactyly-syndactyly syndrome semapv:UnspecifiedMatching MONDO:0012544 brachydactyly-syndactyly syndrome skos:exactMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:UnspecifiedMatching MONDO:0012544 brachydactyly-syndactyly syndrome skos:exactMatch UMLS:C1853137 semapv:UnspecifiedMatching MONDO:0012544 brachydactyly-syndactyly syndrome skos:exactMatch mesh:C565193 semapv:UnspecifiedMatching MONDO:0012545 neutral lipid storage myopathy skos:exactMatch OMIM:610717 neutral lipid storage disease with myopathy semapv:UnspecifiedMatching MONDO:0012545 neutral lipid storage myopathy skos:exactMatch Orphanet:98908 Neutral lipid storage myopathy semapv:UnspecifiedMatching MONDO:0012545 neutral lipid storage myopathy skos:exactMatch SCTID:699315005 semapv:UnspecifiedMatching MONDO:0012546 nephrotic syndrome, type 3 skos:exactMatch DOID:0080382 nephrotic syndrome type 3 semapv:UnspecifiedMatching MONDO:0012546 nephrotic syndrome, type 3 skos:exactMatch OMIM:610725 nephrotic syndrome, iia 3 semapv:UnspecifiedMatching MONDO:0012546 nephrotic syndrome, type 3 skos:exactMatch UMLS:C1853124 semapv:UnspecifiedMatching MONDO:0012547 Noonan syndrome 4 skos:exactMatch DOID:0060582 Noonan syndrome 4 semapv:UnspecifiedMatching MONDO:0012547 Noonan syndrome 4 skos:exactMatch NCIT:C176932 Noonan Syndrome 4 semapv:UnspecifiedMatching MONDO:0012547 Noonan syndrome 4 skos:exactMatch OMIM:610733 noonan syndrome 4 semapv:UnspecifiedMatching MONDO:0012547 Noonan syndrome 4 skos:exactMatch UMLS:C1853120 semapv:UnspecifiedMatching MONDO:0012547 Noonan syndrome 4 skos:exactMatch mesh:C548082 semapv:UnspecifiedMatching MONDO:0012548 Kostmann syndrome skos:exactMatch DOID:0112133 severe congenital neutropenia 3 semapv:UnspecifiedMatching MONDO:0012548 Kostmann syndrome skos:exactMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:UnspecifiedMatching MONDO:0012548 Kostmann syndrome skos:exactMatch Orphanet:99749 Kostmann syndrome semapv:UnspecifiedMatching MONDO:0012548 Kostmann syndrome skos:exactMatch UMLS:C5235141 semapv:UnspecifiedMatching MONDO:0012549 autosomal recessive ataxia, Beauce type skos:exactMatch DOID:0111618 autosomal recessive spinocerebellar ataxia 8 semapv:UnspecifiedMatching MONDO:0012549 autosomal recessive ataxia, Beauce type skos:exactMatch OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 semapv:UnspecifiedMatching MONDO:0012549 autosomal recessive ataxia, Beauce type skos:exactMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:UnspecifiedMatching MONDO:0012549 autosomal recessive ataxia, Beauce type skos:exactMatch UMLS:C1853116 semapv:UnspecifiedMatching MONDO:0012550 iris pattern skos:exactMatch OMIM:610744 iris pattern semapv:UnspecifiedMatching MONDO:0012550 iris pattern skos:exactMatch UMLS:C1853115 semapv:UnspecifiedMatching MONDO:0012551 alopecia areata 2 skos:exactMatch OMIM:610753 alopecia areata 2 semapv:UnspecifiedMatching MONDO:0012551 alopecia areata 2 skos:exactMatch UMLS:C1853104 semapv:UnspecifiedMatching MONDO:0012551 alopecia areata 2 skos:exactMatch mesh:C565186 semapv:UnspecifiedMatching MONDO:0012552 multiple endocrine neoplasia type 4 skos:exactMatch DOID:0080137 multiple endocrine neoplasia type 4 semapv:UnspecifiedMatching MONDO:0012552 multiple endocrine neoplasia type 4 skos:exactMatch NCIT:C157449 Multiple Endocrine Neoplasia Type 4 semapv:UnspecifiedMatching MONDO:0012552 multiple endocrine neoplasia type 4 skos:exactMatch OMIM:610755 multiple endocrine neoplasia, iia 4 semapv:UnspecifiedMatching MONDO:0012552 multiple endocrine neoplasia type 4 skos:exactMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:UnspecifiedMatching MONDO:0012552 multiple endocrine neoplasia type 4 skos:exactMatch SCTID:715907003 semapv:UnspecifiedMatching MONDO:0012552 multiple endocrine neoplasia type 4 skos:exactMatch UMLS:C1970712 semapv:UnspecifiedMatching MONDO:0012552 multiple endocrine neoplasia type 4 skos:exactMatch mesh:C567059 semapv:UnspecifiedMatching MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:exactMatch DOID:0080912 cerebrooculofacioskeletal syndrome 2 semapv:UnspecifiedMatching MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:exactMatch OMIM:610756 cerebrooculofacioskeletal syndrome 2 semapv:UnspecifiedMatching MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:exactMatch UMLS:C1853102 semapv:UnspecifiedMatching MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:exactMatch mesh:C565185 semapv:UnspecifiedMatching MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:exactMatch DOID:0080914 cerebrooculofacioskeletal syndrome 4 semapv:UnspecifiedMatching MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:exactMatch NCIT:C173104 Cerebrooculofacioskeletal Syndrome 4 semapv:UnspecifiedMatching MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:exactMatch OMIM:610758 cerebrooculofacioskeletal syndrome 4 semapv:UnspecifiedMatching MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:exactMatch UMLS:C1853100 semapv:UnspecifiedMatching MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:exactMatch mesh:C565184 semapv:UnspecifiedMatching MONDO:0012555 Cornelia de Lange syndrome 3 skos:exactMatch DOID:0080507 Cornelia de Lange syndrome 3 semapv:UnspecifiedMatching MONDO:0012555 Cornelia de Lange syndrome 3 skos:exactMatch OMIM:610759 cornelia lange lange syndrome 3 with or without midline brain defects semapv:UnspecifiedMatching MONDO:0012555 Cornelia de Lange syndrome 3 skos:exactMatch UMLS:C1853099 semapv:UnspecifiedMatching MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch DOID:0080565 congenital disorder of glycosylation Im semapv:UnspecifiedMatching MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch OMIM:610768 congenital disorder of glycosylation, iia im semapv:UnspecifiedMatching MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch Orphanet:91131 DK1-CDG semapv:UnspecifiedMatching MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch SCTID:718712005 semapv:UnspecifiedMatching MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch mesh:C563666 semapv:UnspecifiedMatching MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:exactMatch OMIM:610773 mitochondrial phosphate carrier deficiency semapv:UnspecifiedMatching MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:exactMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:UnspecifiedMatching MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:exactMatch SCTID:718713000 semapv:UnspecifiedMatching MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:exactMatch UMLS:C1835845 semapv:UnspecifiedMatching MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:exactMatch mesh:C563665 semapv:UnspecifiedMatching MONDO:0012558 epiphyseal dysplasia, Baumann type skos:exactMatch OMIM:610797 epiphyseal dysplasia, baumann iia semapv:UnspecifiedMatching MONDO:0012558 epiphyseal dysplasia, Baumann type skos:exactMatch UMLS:C1835830 semapv:UnspecifiedMatching MONDO:0012558 epiphyseal dysplasia, Baumann type skos:exactMatch mesh:C563664 semapv:UnspecifiedMatching MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch OMIM:610798 immunodeficiency due to defect 1n mapbp-interacting protein semapv:UnspecifiedMatching MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:UnspecifiedMatching MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch SCTID:718717004 semapv:UnspecifiedMatching MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch UMLS:C1835829 semapv:UnspecifiedMatching MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch mesh:C563663 semapv:UnspecifiedMatching MONDO:0012560 obsolete invasive pneumococcal disease, recurrent isolated, 1 skos:exactMatch OMIM:610799 semapv:UnspecifiedMatching MONDO:0012561 congenital anomalies of kidney and urinary tract 1 skos:exactMatch DOID:0080206 CAKUT1 semapv:UnspecifiedMatching MONDO:0012561 congenital anomalies of kidney and urinary tract 1 skos:exactMatch OMIM:610805 congenital anomalies of kidney and urinary tract 1 semapv:UnspecifiedMatching MONDO:0012561 congenital anomalies of kidney and urinary tract 1 skos:exactMatch UMLS:C1835826 semapv:UnspecifiedMatching MONDO:0012561 congenital anomalies of kidney and urinary tract 1 skos:exactMatch mesh:C563661 semapv:UnspecifiedMatching MONDO:0012562 holoprosencephaly 7 skos:exactMatch DOID:0110876 holoprosencephaly 7 semapv:UnspecifiedMatching MONDO:0012562 holoprosencephaly 7 skos:exactMatch OMIM:610828 holoprosencephaly 7 semapv:UnspecifiedMatching MONDO:0012562 holoprosencephaly 7 skos:exactMatch UMLS:C1835820 semapv:UnspecifiedMatching MONDO:0012562 holoprosencephaly 7 skos:exactMatch mesh:C563660 semapv:UnspecifiedMatching MONDO:0012563 holoprosencephaly 9 skos:exactMatch DOID:0110873 holoprosencephaly 9 semapv:UnspecifiedMatching MONDO:0012563 holoprosencephaly 9 skos:exactMatch OMIM:610829 holoprosencephaly 9 semapv:UnspecifiedMatching MONDO:0012563 holoprosencephaly 9 skos:exactMatch UMLS:C1835819 semapv:UnspecifiedMatching MONDO:0012564 Polyosteolysis-hyperostosis syndrome skos:exactMatch OMIM:610830 polyosteolysis-hyperostosis syndrome semapv:UnspecifiedMatching MONDO:0012564 Polyosteolysis-hyperostosis syndrome skos:exactMatch UMLS:C1835818 semapv:UnspecifiedMatching MONDO:0012564 Polyosteolysis-hyperostosis syndrome skos:exactMatch mesh:C563658 semapv:UnspecifiedMatching MONDO:0012565 Fanconi anemia complementation group N skos:exactMatch DOID:0111094 Fanconi anemia complementation group N semapv:UnspecifiedMatching MONDO:0012565 Fanconi anemia complementation group N skos:exactMatch OMIM:610832 fanconi anemia, complementation group n semapv:UnspecifiedMatching MONDO:0012565 Fanconi anemia complementation group N skos:exactMatch UMLS:C1835817 semapv:UnspecifiedMatching MONDO:0012565 Fanconi anemia complementation group N skos:exactMatch mesh:C563657 semapv:UnspecifiedMatching MONDO:0012566 autism, susceptibility to, 11 skos:exactMatch OMIM:610836 autism, susceptibility to, 11 semapv:UnspecifiedMatching MONDO:0012567 autism, susceptibility to, 12 skos:exactMatch OMIM:610838 autism, susceptibility to, 12 semapv:UnspecifiedMatching MONDO:0012568 osteoarthritis susceptibility 4 skos:exactMatch OMIM:610839 osteoarthritis susceptibility 4 semapv:UnspecifiedMatching MONDO:0012568 osteoarthritis susceptibility 4 skos:exactMatch UMLS:C1835815 semapv:UnspecifiedMatching MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:exactMatch OMIM:610840 mitral valve prolapse 3 semapv:UnspecifiedMatching MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:exactMatch UMLS:C1835814 semapv:UnspecifiedMatching MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:exactMatch mesh:C563655 semapv:UnspecifiedMatching MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:exactMatch OMIM:610842 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency semapv:UnspecifiedMatching MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:exactMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:UnspecifiedMatching MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:exactMatch SCTID:717941005 semapv:UnspecifiedMatching MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:exactMatch UMLS:C1835813 semapv:UnspecifiedMatching MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:exactMatch mesh:C563654 semapv:UnspecifiedMatching MONDO:0012571 primary ciliary dyskinesia 6 skos:exactMatch DOID:0110606 primary ciliary dyskinesia 6 semapv:UnspecifiedMatching MONDO:0012571 primary ciliary dyskinesia 6 skos:exactMatch OMIM:610852 ciliary dyskinesia, primary, 6 semapv:UnspecifiedMatching MONDO:0012571 primary ciliary dyskinesia 6 skos:exactMatch UMLS:C1970506 semapv:UnspecifiedMatching MONDO:0012571 primary ciliary dyskinesia 6 skos:exactMatch mesh:C567057 semapv:UnspecifiedMatching MONDO:0012572 Sakoda complex skos:exactMatch OMIM:610871 sakoda complex semapv:UnspecifiedMatching MONDO:0012572 Sakoda complex skos:exactMatch UMLS:C1970485 semapv:UnspecifiedMatching MONDO:0012572 Sakoda complex skos:exactMatch mesh:C567055 semapv:UnspecifiedMatching MONDO:0012573 vesicoureteral reflux 2 skos:exactMatch OMIM:610878 vesicoureteral reflux 2 semapv:UnspecifiedMatching MONDO:0012573 vesicoureteral reflux 2 skos:exactMatch UMLS:C1970483 semapv:UnspecifiedMatching MONDO:0012573 vesicoureteral reflux 2 skos:exactMatch mesh:C567053 semapv:UnspecifiedMatching MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch DOID:0060853 Potocki-Lupski syndrome semapv:UnspecifiedMatching MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch NCIT:C124846 Potocki-Lupski Syndrome semapv:UnspecifiedMatching MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch OMIM:610883 potocki-lupski syndrome semapv:UnspecifiedMatching MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:UnspecifiedMatching MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch SCTID:734016004 semapv:UnspecifiedMatching MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch UMLS:C2931246 semapv:UnspecifiedMatching MONDO:0012575 branchiootorenal syndrome 2 skos:exactMatch DOID:0111424 branchiootorenal syndrome 2 semapv:UnspecifiedMatching MONDO:0012575 branchiootorenal syndrome 2 skos:exactMatch OMIM:610896 branchiootorenal syndrome 2 semapv:UnspecifiedMatching MONDO:0012575 branchiootorenal syndrome 2 skos:exactMatch UMLS:C1970479 semapv:UnspecifiedMatching MONDO:0012576 supranuclear palsy, progressive, 3 skos:exactMatch OMIM:610898 supranuclear palsy, progressive, 3 semapv:UnspecifiedMatching MONDO:0012576 supranuclear palsy, progressive, 3 skos:exactMatch UMLS:C1970476 semapv:UnspecifiedMatching MONDO:0012576 supranuclear palsy, progressive, 3 skos:exactMatch mesh:C567050 semapv:UnspecifiedMatching MONDO:0012577 asthma-related traits, susceptibility to, 4 skos:exactMatch OMIM:610906 asthma-related traits, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012578 autism, susceptibility to, 13 skos:exactMatch OMIM:610908 autism, susceptibility to, 13 semapv:UnspecifiedMatching MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:UnspecifiedMatching MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:UnspecifiedMatching MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch SCTID:707443007 semapv:UnspecifiedMatching MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch UMLS:C1970472 semapv:UnspecifiedMatching MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch mesh:C567049 semapv:UnspecifiedMatching MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch OMIMPS:265120 semapv:UnspecifiedMatching MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:UnspecifiedMatching MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch SCTID:707442002 semapv:UnspecifiedMatching MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch UMLS:C3711368 semapv:UnspecifiedMatching MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch mesh:C535832 semapv:UnspecifiedMatching MONDO:0012581 osteogenesis imperfecta type 8 skos:exactMatch DOID:0110336 osteogenesis imperfecta type 8 semapv:UnspecifiedMatching MONDO:0012581 osteogenesis imperfecta type 8 skos:exactMatch OMIM:610915 osteogenesis imperfecta, iia 8 semapv:UnspecifiedMatching MONDO:0012581 osteogenesis imperfecta type 8 skos:exactMatch mesh:C536049 semapv:UnspecifiedMatching MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:exactMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:UnspecifiedMatching MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:exactMatch Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency semapv:UnspecifiedMatching MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:exactMatch UMLS:C1970456 semapv:UnspecifiedMatching MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:exactMatch mesh:C567046 semapv:UnspecifiedMatching MONDO:0012583 tooth agenesis, selective, 5 skos:exactMatch OMIM:610926 tooth agenesis, selective, 5 semapv:UnspecifiedMatching MONDO:0012583 tooth agenesis, selective, 5 skos:exactMatch UMLS:C1858210 semapv:UnspecifiedMatching MONDO:0012583 tooth agenesis, selective, 5 skos:exactMatch mesh:C565757 semapv:UnspecifiedMatching MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 skos:exactMatch OMIM:610927 systemic lupus erythematosus, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0012585 coronary heart disease, susceptibility to, 7 skos:exactMatch OMIM:610938 coronary heart disease, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012586 coronary artery disease, autosomal dominant 2 skos:exactMatch OMIM:610947 coronary artery disease, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0012586 coronary artery disease, autosomal dominant 2 skos:exactMatch UMLS:C1970440 semapv:UnspecifiedMatching MONDO:0012586 coronary artery disease, autosomal dominant 2 skos:exactMatch mesh:C567045 semapv:UnspecifiedMatching MONDO:0012587 hypertension, essential, susceptibility to, 7 skos:exactMatch OMIM:610948 hypertension, essential, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:exactMatch DOID:0110722 neuronal ceroid lipofuscinosis 7 semapv:UnspecifiedMatching MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:exactMatch OMIM:610951 ceroid lipofuscinosis, neuronal, 7 semapv:UnspecifiedMatching MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:exactMatch Orphanet:228366 OBSOLETE: CLN7 disease semapv:UnspecifiedMatching MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:exactMatch mesh:C563989 semapv:UnspecifiedMatching MONDO:0012589 Pitt-Hopkins syndrome skos:exactMatch DOID:0060488 Pitt-Hopkins syndrome semapv:UnspecifiedMatching MONDO:0012589 Pitt-Hopkins syndrome skos:exactMatch NCIT:C129872 Pitt-Hopkins Syndrome semapv:UnspecifiedMatching MONDO:0012589 Pitt-Hopkins syndrome skos:exactMatch OMIM:610954 pitt-hopkins syndrome semapv:UnspecifiedMatching MONDO:0012589 Pitt-Hopkins syndrome skos:exactMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:UnspecifiedMatching MONDO:0012589 Pitt-Hopkins syndrome skos:exactMatch SCTID:702344008 semapv:UnspecifiedMatching MONDO:0012589 Pitt-Hopkins syndrome skos:exactMatch UMLS:C1970431 semapv:UnspecifiedMatching MONDO:0012589 Pitt-Hopkins syndrome skos:exactMatch mesh:C537403 semapv:UnspecifiedMatching MONDO:0012590 XFE progeroid syndrome skos:exactMatch DOID:0060590 XFE progeroid syndrome semapv:UnspecifiedMatching MONDO:0012590 XFE progeroid syndrome skos:exactMatch NCIT:C173111 XFE Progeroid Syndrome semapv:UnspecifiedMatching MONDO:0012590 XFE progeroid syndrome skos:exactMatch OMIM:610965 xfe progeroid syndrome semapv:UnspecifiedMatching MONDO:0012590 XFE progeroid syndrome skos:exactMatch UMLS:C1970416 semapv:UnspecifiedMatching MONDO:0012590 XFE progeroid syndrome skos:exactMatch mesh:C567043 semapv:UnspecifiedMatching MONDO:0012591 osteogenesis imperfecta type 5 skos:exactMatch DOID:0110344 osteogenesis imperfecta type 5 semapv:UnspecifiedMatching MONDO:0012591 osteogenesis imperfecta type 5 skos:exactMatch OMIM:610967 osteogenesis imperfecta, iia 5 semapv:UnspecifiedMatching MONDO:0012591 osteogenesis imperfecta type 5 skos:exactMatch Orphanet:216828 Osteogenesis imperfecta type 5 semapv:UnspecifiedMatching MONDO:0012591 osteogenesis imperfecta type 5 skos:exactMatch mesh:C567042 semapv:UnspecifiedMatching MONDO:0012592 osteogenesis imperfecta type 11 skos:exactMatch DOID:0110351 osteogenesis imperfecta type 11 semapv:UnspecifiedMatching MONDO:0012592 osteogenesis imperfecta type 11 skos:exactMatch OMIM:610968 osteogenesis imperfecta, iia 11 semapv:UnspecifiedMatching MONDO:0012592 osteogenesis imperfecta type 11 skos:exactMatch UMLS:C3151218 semapv:UnspecifiedMatching MONDO:0012593 brain-lung-thyroid syndrome skos:exactMatch OMIM:610978 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction semapv:UnspecifiedMatching MONDO:0012593 brain-lung-thyroid syndrome skos:exactMatch Orphanet:209905 Brain-lung-thyroid syndrome semapv:UnspecifiedMatching MONDO:0012593 brain-lung-thyroid syndrome skos:exactMatch SCTID:719098007 semapv:UnspecifiedMatching MONDO:0012593 brain-lung-thyroid syndrome skos:exactMatch mesh:C567034 semapv:UnspecifiedMatching MONDO:0012594 complement factor I deficiency skos:exactMatch DOID:0050419 complement factor I deficiency semapv:UnspecifiedMatching MONDO:0012594 complement factor I deficiency skos:exactMatch OMIM:610984 complement factor 1 deficiency semapv:UnspecifiedMatching MONDO:0012594 complement factor I deficiency skos:exactMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:UnspecifiedMatching MONDO:0012594 complement factor I deficiency skos:exactMatch UMLS:C3463916 semapv:UnspecifiedMatching MONDO:0012594 complement factor I deficiency skos:exactMatch mesh:C572568 semapv:UnspecifiedMatching MONDO:0012595 leprosy, susceptibility to, 4 skos:exactMatch OMIM:610988 leprosy, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012596 PSAT deficiency skos:exactMatch DOID:0050723 PSAT deficiency semapv:UnspecifiedMatching MONDO:0012596 PSAT deficiency skos:exactMatch OMIM:610992 phosphoserine aminotransferase deficiency semapv:UnspecifiedMatching MONDO:0012596 PSAT deficiency skos:exactMatch Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form semapv:UnspecifiedMatching MONDO:0012596 PSAT deficiency skos:exactMatch SCTID:718603002 semapv:UnspecifiedMatching MONDO:0012596 PSAT deficiency skos:exactMatch UMLS:C1970253 semapv:UnspecifiedMatching MONDO:0012596 PSAT deficiency skos:exactMatch mesh:C567032 semapv:UnspecifiedMatching MONDO:0012597 prostate cancer, hereditary, 9 skos:exactMatch OMIM:610997 prostate cancer, hereditary, 9 semapv:UnspecifiedMatching MONDO:0012597 prostate cancer, hereditary, 9 skos:exactMatch UMLS:C1970250 semapv:UnspecifiedMatching MONDO:0012597 prostate cancer, hereditary, 9 skos:exactMatch mesh:C567031 semapv:UnspecifiedMatching MONDO:0012598 fibromatosis, gingival, 4 skos:exactMatch OMIM:611010 fibromatosis, gingival, 4 semapv:UnspecifiedMatching MONDO:0012598 fibromatosis, gingival, 4 skos:exactMatch mesh:C567028 semapv:UnspecifiedMatching MONDO:0012599 hypertension, essential, susceptibility to, 8 skos:exactMatch OMIM:611014 hypertension, essential, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012600 autism, susceptibility to, 9 skos:exactMatch OMIM:611015 autism, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0012601 autism, susceptibility to, 10 skos:exactMatch OMIM:611016 autism, susceptibility to, 10 semapv:UnspecifiedMatching MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:exactMatch DOID:0110482 autosomal recessive nonsyndromic deafness 24 semapv:UnspecifiedMatching MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:exactMatch OMIM:611022 deafness, autosomal recessive 24 semapv:UnspecifiedMatching MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:exactMatch UMLS:C1970239 semapv:UnspecifiedMatching MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:exactMatch mesh:C567027 semapv:UnspecifiedMatching MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:exactMatch DOID:0090054 episodic kinesigenic dyskinesia 2 semapv:UnspecifiedMatching MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:exactMatch OMIM:611031 episodic kinesigenic dyskinesia 2 semapv:UnspecifiedMatching MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:exactMatch UMLS:C1970238 semapv:UnspecifiedMatching MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:exactMatch mesh:C567026 semapv:UnspecifiedMatching MONDO:0012604 isolated microphthalmia 3 skos:exactMatch DOID:0060842 isolated microphthalmia 3 semapv:UnspecifiedMatching MONDO:0012604 isolated microphthalmia 3 skos:exactMatch OMIM:611038 microphthalmia, syndromic 16 semapv:UnspecifiedMatching MONDO:0012604 isolated microphthalmia 3 skos:exactMatch UMLS:C5774181 semapv:UnspecifiedMatching MONDO:0012604 isolated microphthalmia 3 skos:exactMatch mesh:C567025 semapv:UnspecifiedMatching MONDO:0012605 isolated microphthalmia 5 skos:exactMatch DOID:0060837 isolated microphthalmia 5 semapv:UnspecifiedMatching MONDO:0012605 isolated microphthalmia 5 skos:exactMatch OMIM:611040 microphthalmia, isolated 5 semapv:UnspecifiedMatching MONDO:0012605 isolated microphthalmia 5 skos:exactMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:UnspecifiedMatching MONDO:0012605 isolated microphthalmia 5 skos:exactMatch UMLS:C1970236 semapv:UnspecifiedMatching MONDO:0012605 isolated microphthalmia 5 skos:exactMatch mesh:C567024 semapv:UnspecifiedMatching MONDO:0012606 mycobacterium tuberculosis, susceptibility to, 2 skos:exactMatch OMIM:611046 mycobacterium tuberculosis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012607 asthma-related traits, susceptibility to, 5 skos:exactMatch OMIM:611064 asthma-related traits, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:exactMatch DOID:0111213 distal spinal muscular atrophy type 4 semapv:UnspecifiedMatching MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:exactMatch OMIM:611067 neuronopathy, distal hereditary motor, autosomal recessive 4 semapv:UnspecifiedMatching MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:exactMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:UnspecifiedMatching MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:exactMatch UMLS:C1970211 semapv:UnspecifiedMatching MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:exactMatch mesh:C567023 semapv:UnspecifiedMatching MONDO:0012609 Alzheimer disease 12 skos:exactMatch DOID:0110045 Alzheimer's disease 12 semapv:UnspecifiedMatching MONDO:0012609 Alzheimer disease 12 skos:exactMatch OMIM:611073 alzheimer disease 12 semapv:UnspecifiedMatching MONDO:0012609 Alzheimer disease 12 skos:exactMatch UMLS:C1970209 semapv:UnspecifiedMatching MONDO:0012609 Alzheimer disease 12 skos:exactMatch mesh:C567022 semapv:UnspecifiedMatching MONDO:0012610 inflammatory bowel disease 10 skos:exactMatch DOID:0110885 inflammatory bowel disease 10 semapv:UnspecifiedMatching MONDO:0012610 inflammatory bowel disease 10 skos:exactMatch OMIM:611081 inflammatory bowel disease (crohn disease) 10 semapv:UnspecifiedMatching MONDO:0012610 inflammatory bowel disease 10 skos:exactMatch UMLS:C1970207 semapv:UnspecifiedMatching MONDO:0012610 inflammatory bowel disease 10 skos:exactMatch mesh:C567021 semapv:UnspecifiedMatching MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch OMIM:611087 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:UnspecifiedMatching MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome semapv:UnspecifiedMatching MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch UMLS:C1970203 semapv:UnspecifiedMatching MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch mesh:C567020 semapv:UnspecifiedMatching MONDO:0012612 intellectual disability, autosomal recessive 12 skos:exactMatch DOID:0081180 autosomal recessive intellectual developmental disorder 12 semapv:UnspecifiedMatching MONDO:0012612 intellectual disability, autosomal recessive 12 skos:exactMatch OMIM:611090 intellectual developmental disorder, autosomal recessive 12 semapv:UnspecifiedMatching MONDO:0012612 intellectual disability, autosomal recessive 12 skos:exactMatch UMLS:C1970200 semapv:UnspecifiedMatching MONDO:0012612 intellectual disability, autosomal recessive 12 skos:exactMatch mesh:C567019 semapv:UnspecifiedMatching MONDO:0012613 intellectual disability, autosomal recessive 5 skos:exactMatch DOID:0081181 autosomal recessive intellectual developmental disorder 5 semapv:UnspecifiedMatching MONDO:0012613 intellectual disability, autosomal recessive 5 skos:exactMatch OMIM:611091 intellectual developmental disorder, autosomal recessive 5 semapv:UnspecifiedMatching MONDO:0012613 intellectual disability, autosomal recessive 5 skos:exactMatch UMLS:C1970199 semapv:UnspecifiedMatching MONDO:0012613 intellectual disability, autosomal recessive 5 skos:exactMatch mesh:C567018 semapv:UnspecifiedMatching MONDO:0012614 intellectual disability, autosomal recessive 6 skos:exactMatch DOID:0081182 autosomal recessive intellectual developmental disorder 6 semapv:UnspecifiedMatching MONDO:0012614 intellectual disability, autosomal recessive 6 skos:exactMatch OMIM:611092 intellectual developmental disorder, autosomal recessive 6 semapv:UnspecifiedMatching MONDO:0012614 intellectual disability, autosomal recessive 6 skos:exactMatch UMLS:C1970198 semapv:UnspecifiedMatching MONDO:0012614 intellectual disability, autosomal recessive 6 skos:exactMatch mesh:C567017 semapv:UnspecifiedMatching MONDO:0012615 intellectual disability, autosomal recessive 7 skos:exactMatch DOID:0081183 autosomal recessive intellectual developmental disorder 7 semapv:UnspecifiedMatching MONDO:0012615 intellectual disability, autosomal recessive 7 skos:exactMatch OMIM:611093 intellectual developmental disorder, autosomal recessive 7 semapv:UnspecifiedMatching MONDO:0012615 intellectual disability, autosomal recessive 7 skos:exactMatch UMLS:C1970197 semapv:UnspecifiedMatching MONDO:0012615 intellectual disability, autosomal recessive 7 skos:exactMatch mesh:C567016 semapv:UnspecifiedMatching MONDO:0012617 intellectual disability, autosomal recessive 9 skos:exactMatch DOID:0081184 autosomal recessive intellectual developmental disorder 9/26 semapv:UnspecifiedMatching MONDO:0012617 intellectual disability, autosomal recessive 9 skos:exactMatch OMIM:611095 intellectual developmental disorder, autosomal recessive 9 semapv:UnspecifiedMatching MONDO:0012617 intellectual disability, autosomal recessive 9 skos:exactMatch UMLS:C1970195 semapv:UnspecifiedMatching MONDO:0012617 intellectual disability, autosomal recessive 9 skos:exactMatch mesh:C567014 semapv:UnspecifiedMatching MONDO:0012618 intellectual disability, autosomal recessive 10 skos:exactMatch DOID:0081185 autosomal recessive intellectual developmental disorder 10/20 semapv:UnspecifiedMatching MONDO:0012618 intellectual disability, autosomal recessive 10 skos:exactMatch OMIM:611096 intellectual developmental disorder, autosomal recessive 10 semapv:UnspecifiedMatching MONDO:0012618 intellectual disability, autosomal recessive 10 skos:exactMatch UMLS:C1970194 semapv:UnspecifiedMatching MONDO:0012618 intellectual disability, autosomal recessive 10 skos:exactMatch mesh:C567013 semapv:UnspecifiedMatching MONDO:0012619 intellectual disability, autosomal recessive 11 skos:exactMatch DOID:0081186 autosomal recessive intellectual developmental disorder 11 semapv:UnspecifiedMatching MONDO:0012619 intellectual disability, autosomal recessive 11 skos:exactMatch OMIM:611097 intellectual developmental disorder, autosomal recessive 11 semapv:UnspecifiedMatching MONDO:0012619 intellectual disability, autosomal recessive 11 skos:exactMatch UMLS:C1970193 semapv:UnspecifiedMatching MONDO:0012619 intellectual disability, autosomal recessive 11 skos:exactMatch mesh:C567012 semapv:UnspecifiedMatching MONDO:0012620 prostate cancer, hereditary, 10 skos:exactMatch OMIM:611100 prostate cancer, hereditary, 10 semapv:UnspecifiedMatching MONDO:0012620 prostate cancer, hereditary, 10 skos:exactMatch UMLS:C1970192 semapv:UnspecifiedMatching MONDO:0012620 prostate cancer, hereditary, 10 skos:exactMatch mesh:C567011 semapv:UnspecifiedMatching MONDO:0012621 deafness-infertility syndrome skos:exactMatch OMIM:611102 deafness-infertility syndrome semapv:UnspecifiedMatching MONDO:0012621 deafness-infertility syndrome skos:exactMatch Orphanet:94064 Deafness-infertility syndrome semapv:UnspecifiedMatching MONDO:0012621 deafness-infertility syndrome skos:exactMatch SCTID:700489002 semapv:UnspecifiedMatching MONDO:0012621 deafness-infertility syndrome skos:exactMatch mesh:C567010 semapv:UnspecifiedMatching MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:exactMatch OMIM:611105 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation semapv:UnspecifiedMatching MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:exactMatch Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome semapv:UnspecifiedMatching MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:exactMatch SCTID:703537008 semapv:UnspecifiedMatching MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:exactMatch mesh:C567009 semapv:UnspecifiedMatching MONDO:0012623 intellectual disability, autosomal recessive 4 skos:exactMatch DOID:0081187 autosomal recessive intellectual developmental disorder 4 semapv:UnspecifiedMatching MONDO:0012623 intellectual disability, autosomal recessive 4 skos:exactMatch OMIM:611107 intellectual developmental disorder, autosomal recessive 4 semapv:UnspecifiedMatching MONDO:0012623 intellectual disability, autosomal recessive 4 skos:exactMatch UMLS:C1970179 semapv:UnspecifiedMatching MONDO:0012623 intellectual disability, autosomal recessive 4 skos:exactMatch mesh:C567008 semapv:UnspecifiedMatching MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:UnspecifiedMatching MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch OMIM:611126 mitochondrial complex 1 deficiency, nuclear iia 20 semapv:UnspecifiedMatching MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency semapv:UnspecifiedMatching MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch SCTID:725046003 semapv:UnspecifiedMatching MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch UMLS:C4747517 semapv:UnspecifiedMatching MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch mesh:C567006 semapv:UnspecifiedMatching MONDO:0012625 retinitis pigmentosa 37 skos:exactMatch DOID:0110399 retinitis pigmentosa 37 semapv:UnspecifiedMatching MONDO:0012625 retinitis pigmentosa 37 skos:exactMatch OMIM:611131 retinitis pigmentosa 37 semapv:UnspecifiedMatching MONDO:0012625 retinitis pigmentosa 37 skos:exactMatch UMLS:C1970163 semapv:UnspecifiedMatching MONDO:0012625 retinitis pigmentosa 37 skos:exactMatch mesh:C567005 semapv:UnspecifiedMatching MONDO:0012626 Meckel syndrome, type 4 skos:exactMatch DOID:0070118 Meckel syndrome 4 semapv:UnspecifiedMatching MONDO:0012626 Meckel syndrome, type 4 skos:exactMatch OMIM:611134 meckel syndrome, iia 4 semapv:UnspecifiedMatching MONDO:0012626 Meckel syndrome, type 4 skos:exactMatch UMLS:C1970161 semapv:UnspecifiedMatching MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:exactMatch DOID:0111314 idiopathic generalized epilepsy 13 semapv:UnspecifiedMatching MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:exactMatch OMIM:611136 epilepsy, idiopathic generalized, susceptibility to, 13 semapv:UnspecifiedMatching MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:exactMatch mesh:C567002 semapv:UnspecifiedMatching MONDO:0012628 coronary heart disease, susceptibility to, 8 skos:exactMatch OMIM:611139 coronary heart disease, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:exactMatch DOID:0090047 paroxysmal nonkinesigenic dyskinesia 2 semapv:UnspecifiedMatching MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:exactMatch OMIM:611147 paroxysmal nonkinesigenic dyskinesia 2 semapv:UnspecifiedMatching MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:exactMatch UMLS:C1970149 semapv:UnspecifiedMatching MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:exactMatch mesh:C567001 semapv:UnspecifiedMatching MONDO:0012630 Alzheimer disease 13 skos:exactMatch DOID:0110046 Alzheimer's disease 13 semapv:UnspecifiedMatching MONDO:0012630 Alzheimer disease 13 skos:exactMatch OMIM:611152 alzheimer disease 13 semapv:UnspecifiedMatching MONDO:0012630 Alzheimer disease 13 skos:exactMatch UMLS:C1970147 semapv:UnspecifiedMatching MONDO:0012630 Alzheimer disease 13 skos:exactMatch mesh:C567000 semapv:UnspecifiedMatching MONDO:0012631 Alzheimer disease 14 skos:exactMatch DOID:0110047 Alzheimer's disease 14 semapv:UnspecifiedMatching MONDO:0012631 Alzheimer disease 14 skos:exactMatch OMIM:611154 alzheimer disease 14 semapv:UnspecifiedMatching MONDO:0012631 Alzheimer disease 14 skos:exactMatch UMLS:C1970144 semapv:UnspecifiedMatching MONDO:0012631 Alzheimer disease 14 skos:exactMatch mesh:C566999 semapv:UnspecifiedMatching MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:exactMatch OMIM:611174 hamamy syndrome semapv:UnspecifiedMatching MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:exactMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:UnspecifiedMatching MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:exactMatch UMLS:C1970027 semapv:UnspecifiedMatching MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:exactMatch mesh:C566988 semapv:UnspecifiedMatching MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch DOID:0070260 congenital disorder of glycosylation type IIh semapv:UnspecifiedMatching MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch OMIM:611182 congenital disorder of glycosylation, iia iih semapv:UnspecifiedMatching MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch Orphanet:95428 COG8-CDG semapv:UnspecifiedMatching MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch SCTID:717774004 semapv:UnspecifiedMatching MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch UMLS:C1970021 semapv:UnspecifiedMatching MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch mesh:C566987 semapv:UnspecifiedMatching MONDO:0012636 restless legs syndrome, susceptibility to, 6 skos:exactMatch OMIM:611185 restless legs syndrome, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012637 COG1-congenital disorder of glycosylation skos:exactMatch DOID:0070259 congenital disorder of glycosylation type IIg semapv:UnspecifiedMatching MONDO:0012637 COG1-congenital disorder of glycosylation skos:exactMatch OMIM:611209 congenital disorder of glycosylation, iia iig semapv:UnspecifiedMatching MONDO:0012637 COG1-congenital disorder of glycosylation skos:exactMatch Orphanet:263508 COG1-CDG semapv:UnspecifiedMatching MONDO:0012637 COG1-congenital disorder of glycosylation skos:exactMatch SCTID:718750004 semapv:UnspecifiedMatching MONDO:0012637 COG1-congenital disorder of glycosylation skos:exactMatch mesh:C535756 semapv:UnspecifiedMatching MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch DOID:0111812 syndromic microphthalmia 10 semapv:UnspecifiedMatching MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch OMIM:611222 microphthalmia, syndromic 10 semapv:UnspecifiedMatching MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch Orphanet:77299 Microphthalmia-brain atrophy syndrome semapv:UnspecifiedMatching MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch SCTID:720010009 semapv:UnspecifiedMatching MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch mesh:C566985 semapv:UnspecifiedMatching MONDO:0012639 hereditary spastic paraplegia 18 skos:exactMatch DOID:0110771 hereditary spastic paraplegia 18 semapv:UnspecifiedMatching MONDO:0012639 hereditary spastic paraplegia 18 skos:exactMatch OMIM:611225 spastic paraplegia 18b, autosomal recessive semapv:UnspecifiedMatching MONDO:0012639 hereditary spastic paraplegia 18 skos:exactMatch Orphanet:209951 Autosomal spastic paraplegia type 18 semapv:UnspecifiedMatching MONDO:0012639 hereditary spastic paraplegia 18 skos:exactMatch SCTID:732932004 semapv:UnspecifiedMatching MONDO:0012639 hereditary spastic paraplegia 18 skos:exactMatch mesh:C567628 semapv:UnspecifiedMatching MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:exactMatch DOID:0110184 Charcot-Marie-Tooth disease type 4J semapv:UnspecifiedMatching MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:exactMatch NCIT:C134954 Charcot-Marie-Tooth Disease Type 4J semapv:UnspecifiedMatching MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:exactMatch OMIM:611228 charcot-marie-tooth disease, iia 4j semapv:UnspecifiedMatching MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:exactMatch Orphanet:139515 Charcot-Marie-Tooth disease type 4J semapv:UnspecifiedMatching MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:exactMatch SCTID:720638000 semapv:UnspecifiedMatching MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:exactMatch UMLS:C1970011 semapv:UnspecifiedMatching MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:exactMatch mesh:C566984 semapv:UnspecifiedMatching MONDO:0012641 restless legs syndrome, susceptibility to, 5 skos:exactMatch OMIM:611242 restless legs syndrome, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012642 major affective disorder 4 skos:exactMatch OMIM:611247 major affective disorder 4 semapv:UnspecifiedMatching MONDO:0012642 major affective disorder 4 skos:exactMatch mesh:C567073 semapv:UnspecifiedMatching MONDO:0012643 hereditary spastic paraplegia 32 skos:exactMatch DOID:0110783 hereditary spastic paraplegia 32 semapv:UnspecifiedMatching MONDO:0012643 hereditary spastic paraplegia 32 skos:exactMatch OMIM:611252 spastic paraplegia 32, autosomal recessive semapv:UnspecifiedMatching MONDO:0012643 hereditary spastic paraplegia 32 skos:exactMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:UnspecifiedMatching MONDO:0012643 hereditary spastic paraplegia 32 skos:exactMatch SCTID:726606003 semapv:UnspecifiedMatching MONDO:0012643 hereditary spastic paraplegia 32 skos:exactMatch UMLS:C1970009 semapv:UnspecifiedMatching MONDO:0012643 hereditary spastic paraplegia 32 skos:exactMatch mesh:C566983 semapv:UnspecifiedMatching MONDO:0012644 asphyxiating thoracic dystrophy 2 skos:exactMatch DOID:0110086 asphyxiating thoracic dystrophy 2 semapv:UnspecifiedMatching MONDO:0012644 asphyxiating thoracic dystrophy 2 skos:exactMatch OMIM:611263 short-rib thoracic dysplasia 2 with or without polydactyly semapv:UnspecifiedMatching MONDO:0012644 asphyxiating thoracic dystrophy 2 skos:exactMatch UMLS:C1970005 semapv:UnspecifiedMatching MONDO:0012644 asphyxiating thoracic dystrophy 2 skos:exactMatch mesh:C566982 semapv:UnspecifiedMatching MONDO:0012645 glaucoma 1, open angle, N skos:exactMatch OMIM:611274 glaucoma 1, open angle, n semapv:UnspecifiedMatching MONDO:0012645 glaucoma 1, open angle, N skos:exactMatch UMLS:C1969812 semapv:UnspecifiedMatching MONDO:0012645 glaucoma 1, open angle, N skos:exactMatch mesh:C566977 semapv:UnspecifiedMatching MONDO:0012646 obsolete glaucoma 1, open angle, H skos:exactMatch OMIM:611276 glaucoma 1, open angle, h semapv:UnspecifiedMatching MONDO:0012646 obsolete glaucoma 1, open angle, H skos:exactMatch UMLS:C1969811 semapv:UnspecifiedMatching MONDO:0012646 obsolete glaucoma 1, open angle, H skos:exactMatch mesh:C566976 semapv:UnspecifiedMatching MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:exactMatch NCIT:C129975 Isobutyryl-CoA Dehydrogenase Deficiency semapv:UnspecifiedMatching MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:exactMatch OMIM:611283 isobutyryl-coa dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:exactMatch UMLS:C1969809 semapv:UnspecifiedMatching MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:exactMatch mesh:C535541 semapv:UnspecifiedMatching MONDO:0012650 Cernunnos-XLF deficiency skos:exactMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:UnspecifiedMatching MONDO:0012650 Cernunnos-XLF deficiency skos:exactMatch Orphanet:169079 Cernunnos-XLF deficiency semapv:UnspecifiedMatching MONDO:0012650 Cernunnos-XLF deficiency skos:exactMatch SCTID:720853005 semapv:UnspecifiedMatching MONDO:0012650 Cernunnos-XLF deficiency skos:exactMatch UMLS:C1969799 semapv:UnspecifiedMatching MONDO:0012650 Cernunnos-XLF deficiency skos:exactMatch mesh:C566970 semapv:UnspecifiedMatching MONDO:0012651 spastic ataxia 2 skos:exactMatch DOID:0050941 spastic ataxia 2 semapv:UnspecifiedMatching MONDO:0012651 spastic ataxia 2 skos:exactMatch OMIM:611302 spastic ataxia 2, autosomal recessive semapv:UnspecifiedMatching MONDO:0012651 spastic ataxia 2 skos:exactMatch Orphanet:397946 Autosomal spastic paraplegia type 58 semapv:UnspecifiedMatching MONDO:0012651 spastic ataxia 2 skos:exactMatch UMLS:C1969796 semapv:UnspecifiedMatching MONDO:0012651 spastic ataxia 2 skos:exactMatch mesh:C566969 semapv:UnspecifiedMatching MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:exactMatch DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L semapv:UnspecifiedMatching MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:exactMatch OMIM:611307 muscular dystrophy, limb-girdle, autosomal recessive 12 semapv:UnspecifiedMatching MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:exactMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:UnspecifiedMatching MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:exactMatch UMLS:C1969785 semapv:UnspecifiedMatching MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:exactMatch mesh:C566968 semapv:UnspecifiedMatching MONDO:0012653 persistent hyperplastic primary vitreous, autosomal dominant skos:exactMatch OMIM:611308 persistent hyperplastic primary vitreous, autosomal dominant semapv:UnspecifiedMatching MONDO:0012653 persistent hyperplastic primary vitreous, autosomal dominant skos:exactMatch UMLS:C1969784 semapv:UnspecifiedMatching MONDO:0012654 atrial septal defect 4 skos:exactMatch DOID:0110109 atrial heart septal defect 4 semapv:UnspecifiedMatching MONDO:0012654 atrial septal defect 4 skos:exactMatch OMIM:611363 atrial septal defect 4 semapv:UnspecifiedMatching MONDO:0012654 atrial septal defect 4 skos:exactMatch UMLS:C1969657 semapv:UnspecifiedMatching MONDO:0012654 atrial septal defect 4 skos:exactMatch mesh:C566963 semapv:UnspecifiedMatching MONDO:0012655 myoclonic epilepsy, juvenile, susceptibility to, 4 skos:exactMatch DOID:0111327 juvenile myoclonic epilepsy 4 semapv:UnspecifiedMatching MONDO:0012655 myoclonic epilepsy, juvenile, susceptibility to, 4 skos:exactMatch OMIM:611364 myoclonic epilepsy, juvenile, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012655 myoclonic epilepsy, juvenile, susceptibility to, 4 skos:exactMatch UMLS:C1969656 semapv:UnspecifiedMatching MONDO:0012656 lethal congenital contracture syndrome 3 skos:exactMatch DOID:0060653 lethal congenital contracture syndrome 3 semapv:UnspecifiedMatching MONDO:0012656 lethal congenital contracture syndrome 3 skos:exactMatch OMIM:611369 lethal congenital contracture syndrome 3 semapv:UnspecifiedMatching MONDO:0012656 lethal congenital contracture syndrome 3 skos:exactMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:UnspecifiedMatching MONDO:0012656 lethal congenital contracture syndrome 3 skos:exactMatch SCTID:715420005 semapv:UnspecifiedMatching MONDO:0012656 lethal congenital contracture syndrome 3 skos:exactMatch UMLS:C1969655 semapv:UnspecifiedMatching MONDO:0012656 lethal congenital contracture syndrome 3 skos:exactMatch mesh:C566961 semapv:UnspecifiedMatching MONDO:0012657 Mungan syndrome skos:exactMatch OMIM:611376 mungan syndrome semapv:UnspecifiedMatching MONDO:0012657 Mungan syndrome skos:exactMatch mesh:C548078 semapv:UnspecifiedMatching MONDO:0012658 brachydactyly type B2 skos:exactMatch DOID:0110975 brachydactyly type B2 semapv:UnspecifiedMatching MONDO:0012658 brachydactyly type B2 skos:exactMatch OMIM:611377 brachydactyly, iia b2 semapv:UnspecifiedMatching MONDO:0012658 brachydactyly type B2 skos:exactMatch Orphanet:140908 Brachydactyly type B2 semapv:UnspecifiedMatching MONDO:0012658 brachydactyly type B2 skos:exactMatch SCTID:770406002 semapv:UnspecifiedMatching MONDO:0012658 brachydactyly type B2 skos:exactMatch UMLS:C1969652 semapv:UnspecifiedMatching MONDO:0012659 age related macular degeneration 9 skos:exactMatch DOID:0110021 age related macular degeneration 9 semapv:UnspecifiedMatching MONDO:0012659 age related macular degeneration 9 skos:exactMatch OMIM:611378 macular degeneration, age-related, 9 semapv:UnspecifiedMatching MONDO:0012659 age related macular degeneration 9 skos:exactMatch UMLS:C1969651 semapv:UnspecifiedMatching MONDO:0012659 age related macular degeneration 9 skos:exactMatch mesh:C566958 semapv:UnspecifiedMatching MONDO:0012660 susceptibility to visceral leishmaniasis, 2 skos:exactMatch OMIM:611381 kala-azar, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012661 susceptibility to visceral leishmaniasis, 3 skos:exactMatch OMIM:611382 kala-azar, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012662 Usher syndrome type 2D skos:exactMatch DOID:0110840 Usher syndrome type 2D semapv:UnspecifiedMatching MONDO:0012662 Usher syndrome type 2D skos:exactMatch OMIM:611383 usher syndrome, iia 2d semapv:UnspecifiedMatching MONDO:0012663 obsolete Plasmodium falciparum fever episodes quantitative trait locus 1 skos:exactMatch OMIM:611384 plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching MONDO:0012664 spastic ataxia 3 skos:exactMatch DOID:0050942 spastic ataxia 3 semapv:UnspecifiedMatching MONDO:0012664 spastic ataxia 3 skos:exactMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:UnspecifiedMatching MONDO:0012664 spastic ataxia 3 skos:exactMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:UnspecifiedMatching MONDO:0012664 spastic ataxia 3 skos:exactMatch UMLS:C1969645 semapv:UnspecifiedMatching MONDO:0012664 spastic ataxia 3 skos:exactMatch mesh:C566956 semapv:UnspecifiedMatching MONDO:0012665 cataract 33 skos:exactMatch DOID:0110264 cataract 33 semapv:UnspecifiedMatching MONDO:0012665 cataract 33 skos:exactMatch OMIM:611391 cataract 33, multiple types semapv:UnspecifiedMatching MONDO:0012665 cataract 33 skos:exactMatch UMLS:C3808107 semapv:UnspecifiedMatching MONDO:0012665 cataract 33 skos:exactMatch mesh:C566955 semapv:UnspecifiedMatching MONDO:0012666 asthma-related traits, susceptibility to, 6 skos:exactMatch OMIM:611403 asthma-related traits, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012667 dilated cardiomyopathy 1W skos:exactMatch DOID:0110446 dilated cardiomyopathy 1W semapv:UnspecifiedMatching MONDO:0012667 dilated cardiomyopathy 1W skos:exactMatch OMIM:611407 cardiomyopathy, dilated, 1w semapv:UnspecifiedMatching MONDO:0012667 dilated cardiomyopathy 1W skos:exactMatch UMLS:C1969639 semapv:UnspecifiedMatching MONDO:0012667 dilated cardiomyopathy 1W skos:exactMatch mesh:C566954 semapv:UnspecifiedMatching MONDO:0012668 Tented eyebrows skos:exactMatch OMIM:611426 tented eyebrows semapv:UnspecifiedMatching MONDO:0012669 Legius syndrome skos:exactMatch NCIT:C176941 Legius Syndrome semapv:UnspecifiedMatching MONDO:0012669 Legius syndrome skos:exactMatch OMIM:611431 legius syndrome semapv:UnspecifiedMatching MONDO:0012669 Legius syndrome skos:exactMatch Orphanet:137605 Legius syndrome semapv:UnspecifiedMatching MONDO:0012669 Legius syndrome skos:exactMatch SCTID:703541007 semapv:UnspecifiedMatching MONDO:0012669 Legius syndrome skos:exactMatch UMLS:C1969623 semapv:UnspecifiedMatching MONDO:0012669 Legius syndrome skos:exactMatch mesh:C548032 semapv:UnspecifiedMatching MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:exactMatch DOID:0110515 autosomal recessive nonsyndromic deafness 63 semapv:UnspecifiedMatching MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:exactMatch OMIM:611451 deafness, autosomal recessive 63 semapv:UnspecifiedMatching MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:exactMatch UMLS:C1969621 semapv:UnspecifiedMatching MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:exactMatch mesh:C566951 semapv:UnspecifiedMatching MONDO:0012671 tremor, hereditary essential, 3 skos:exactMatch DOID:0111430 essential tremor 3 semapv:UnspecifiedMatching MONDO:0012671 tremor, hereditary essential, 3 skos:exactMatch OMIM:611456 tremor, hereditary essential, 3 semapv:UnspecifiedMatching MONDO:0012671 tremor, hereditary essential, 3 skos:exactMatch UMLS:C1969617 semapv:UnspecifiedMatching MONDO:0012671 tremor, hereditary essential, 3 skos:exactMatch mesh:C566949 semapv:UnspecifiedMatching MONDO:0012672 cholelithiasis skos:exactMatch DOID:10211 cholelithiasis semapv:UnspecifiedMatching MONDO:0012672 cholelithiasis skos:exactMatch NCIT:C122822 Cholelithiasis semapv:UnspecifiedMatching MONDO:0012672 cholelithiasis skos:exactMatch OMIM:611465 gallbladder disease 4 semapv:UnspecifiedMatching MONDO:0012672 cholelithiasis skos:exactMatch SCTID:266474003 semapv:UnspecifiedMatching MONDO:0012672 cholelithiasis skos:exactMatch UMLS:C0008350 semapv:UnspecifiedMatching MONDO:0012672 cholelithiasis skos:exactMatch mesh:D002769 semapv:UnspecifiedMatching MONDO:0012673 colorectal cancer, susceptibility to, 2 skos:exactMatch OMIM:611469 colorectal cancer, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012674 age related macular degeneration 10 skos:exactMatch DOID:0110022 age related macular degeneration 10 semapv:UnspecifiedMatching MONDO:0012674 age related macular degeneration 10 skos:exactMatch OMIM:611488 macular degeneration, age-related, 10 semapv:UnspecifiedMatching MONDO:0012674 age related macular degeneration 10 skos:exactMatch UMLS:C1969108 semapv:UnspecifiedMatching MONDO:0012674 age related macular degeneration 10 skos:exactMatch mesh:C566935 semapv:UnspecifiedMatching MONDO:0012675 corticosteroid-binding globulin deficiency skos:exactMatch DOID:0090030 corticosteroid-binding globulin deficiency semapv:UnspecifiedMatching MONDO:0012675 corticosteroid-binding globulin deficiency skos:exactMatch OMIM:611489 corticosteroid-binding globulin deficiency semapv:UnspecifiedMatching MONDO:0012675 corticosteroid-binding globulin deficiency skos:exactMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:UnspecifiedMatching MONDO:0012675 corticosteroid-binding globulin deficiency skos:exactMatch UMLS:C1852529 semapv:UnspecifiedMatching MONDO:0012676 autosomal recessive osteopetrosis 4 skos:exactMatch DOID:0110944 autosomal recessive osteopetrosis 4 semapv:UnspecifiedMatching MONDO:0012676 autosomal recessive osteopetrosis 4 skos:exactMatch OMIM:611490 osteopetrosis, autosomal recessive 4 semapv:UnspecifiedMatching MONDO:0012676 autosomal recessive osteopetrosis 4 skos:exactMatch mesh:C566933 semapv:UnspecifiedMatching MONDO:0012677 atrial fibrillation, familial, 4 skos:exactMatch OMIM:611493 atrial fibrillation, familial, 4 semapv:UnspecifiedMatching MONDO:0012677 atrial fibrillation, familial, 4 skos:exactMatch UMLS:C1862394 semapv:UnspecifiedMatching MONDO:0012677 atrial fibrillation, familial, 4 skos:exactMatch mesh:C566244 semapv:UnspecifiedMatching MONDO:0012678 atrial fibrillation, familial, 5 skos:exactMatch OMIM:611494 atrial fibrillation, familial, 5 semapv:UnspecifiedMatching MONDO:0012678 atrial fibrillation, familial, 5 skos:exactMatch UMLS:C1969099 semapv:UnspecifiedMatching MONDO:0012678 atrial fibrillation, familial, 5 skos:exactMatch mesh:C566932 semapv:UnspecifiedMatching MONDO:0012679 autosomal recessive osteopetrosis 6 skos:exactMatch DOID:0110945 autosomal recessive osteopetrosis 6 semapv:UnspecifiedMatching MONDO:0012679 autosomal recessive osteopetrosis 6 skos:exactMatch OMIM:611497 osteopetrosis, autosomal recessive 6 semapv:UnspecifiedMatching MONDO:0012679 autosomal recessive osteopetrosis 6 skos:exactMatch Orphanet:210110 Intermediate osteopetrosis semapv:UnspecifiedMatching MONDO:0012679 autosomal recessive osteopetrosis 6 skos:exactMatch UMLS:C1969093 semapv:UnspecifiedMatching MONDO:0012679 autosomal recessive osteopetrosis 6 skos:exactMatch mesh:C566931 semapv:UnspecifiedMatching MONDO:0012680 nephronophthisis 7 skos:exactMatch DOID:0111116 nephronophthisis 7 semapv:UnspecifiedMatching MONDO:0012680 nephronophthisis 7 skos:exactMatch OMIM:611498 nephronophthisis 7 semapv:UnspecifiedMatching MONDO:0012680 nephronophthisis 7 skos:exactMatch UMLS:C1969092 semapv:UnspecifiedMatching MONDO:0012680 nephronophthisis 7 skos:exactMatch mesh:C566930 semapv:UnspecifiedMatching MONDO:0012681 febrile seizures, familial, 7 skos:exactMatch DOID:0111311 familial febrile seizures 7 semapv:UnspecifiedMatching MONDO:0012681 febrile seizures, familial, 7 skos:exactMatch OMIM:611515 febrile seizures, familial, 7 semapv:UnspecifiedMatching MONDO:0012681 febrile seizures, familial, 7 skos:exactMatch UMLS:C1969087 semapv:UnspecifiedMatching MONDO:0012681 febrile seizures, familial, 7 skos:exactMatch mesh:C566929 semapv:UnspecifiedMatching MONDO:0012682 immunodeficiency 35 skos:exactMatch DOID:0111989 immunodeficiency 35 semapv:UnspecifiedMatching MONDO:0012682 immunodeficiency 35 skos:exactMatch OMIM:611521 immunodeficiency 35 semapv:UnspecifiedMatching MONDO:0012682 immunodeficiency 35 skos:exactMatch Orphanet:331226 Susceptibility to infection due to TYK2 deficiency semapv:UnspecifiedMatching MONDO:0012682 immunodeficiency 35 skos:exactMatch UMLS:C1969086 semapv:UnspecifiedMatching MONDO:0012682 immunodeficiency 35 skos:exactMatch mesh:C566928 semapv:UnspecifiedMatching MONDO:0012683 pontocerebellar hypoplasia type 6 skos:exactMatch DOID:0060275 pontocerebellar hypoplasia type 6 semapv:UnspecifiedMatching MONDO:0012683 pontocerebellar hypoplasia type 6 skos:exactMatch OMIM:611523 pontocerebellar hypoplasia, iia 6 semapv:UnspecifiedMatching MONDO:0012683 pontocerebellar hypoplasia type 6 skos:exactMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:UnspecifiedMatching MONDO:0012683 pontocerebellar hypoplasia type 6 skos:exactMatch SCTID:718606005 semapv:UnspecifiedMatching MONDO:0012683 pontocerebellar hypoplasia type 6 skos:exactMatch UMLS:C1969084 semapv:UnspecifiedMatching MONDO:0012683 pontocerebellar hypoplasia type 6 skos:exactMatch mesh:C548074 semapv:UnspecifiedMatching MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:exactMatch DOID:0110083 arrhythmogenic right ventricular dysplasia 12 semapv:UnspecifiedMatching MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:exactMatch OMIM:611528 arrhythmogenic right ventricular dysplasia, familial, 12 semapv:UnspecifiedMatching MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:exactMatch UMLS:C1969081 semapv:UnspecifiedMatching MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:exactMatch mesh:C566925 semapv:UnspecifiedMatching MONDO:0012685 major affective disorder 5 skos:exactMatch OMIM:611535 major affective disorder 5 semapv:UnspecifiedMatching MONDO:0012685 major affective disorder 5 skos:exactMatch mesh:C567074 semapv:UnspecifiedMatching MONDO:0012686 major affective disorder 6 skos:exactMatch OMIM:611536 major affective disorder 6 semapv:UnspecifiedMatching MONDO:0012686 major affective disorder 6 skos:exactMatch mesh:C567075 semapv:UnspecifiedMatching MONDO:0012687 familial cavitary optic disk anomaly skos:exactMatch OMIM:611543 cavitary optic disc anomalies semapv:UnspecifiedMatching MONDO:0012687 familial cavitary optic disk anomaly skos:exactMatch Orphanet:464760 Familial cavitary optic disc anomaly semapv:UnspecifiedMatching MONDO:0012687 familial cavitary optic disk anomaly skos:exactMatch UMLS:C1969063 semapv:UnspecifiedMatching MONDO:0012687 familial cavitary optic disk anomaly skos:exactMatch mesh:C566924 semapv:UnspecifiedMatching MONDO:0012688 cataract 17 multiple types skos:exactMatch DOID:0110270 cataract 17 multiple types semapv:UnspecifiedMatching MONDO:0012688 cataract 17 multiple types skos:exactMatch OMIM:611544 cataract 17, multiple types semapv:UnspecifiedMatching MONDO:0012688 cataract 17 multiple types skos:exactMatch UMLS:C3888124 semapv:UnspecifiedMatching MONDO:0012688 cataract 17 multiple types skos:exactMatch mesh:C566923 semapv:UnspecifiedMatching MONDO:0012689 premature ovarian failure 5 skos:exactMatch DOID:0080862 primary ovarian insufficiency 5 semapv:UnspecifiedMatching MONDO:0012689 premature ovarian failure 5 skos:exactMatch OMIM:611548 premature ovarian failure 5 semapv:UnspecifiedMatching MONDO:0012689 premature ovarian failure 5 skos:exactMatch UMLS:C1969060 semapv:UnspecifiedMatching MONDO:0012689 premature ovarian failure 5 skos:exactMatch mesh:C566921 semapv:UnspecifiedMatching MONDO:0012690 Noonan syndrome 5 skos:exactMatch DOID:0060583 Noonan syndrome 5 semapv:UnspecifiedMatching MONDO:0012690 Noonan syndrome 5 skos:exactMatch NCIT:C176933 Noonan Syndrome 5 semapv:UnspecifiedMatching MONDO:0012690 Noonan syndrome 5 skos:exactMatch OMIM:611553 noonan syndrome 5 semapv:UnspecifiedMatching MONDO:0012690 Noonan syndrome 5 skos:exactMatch UMLS:C1969057 semapv:UnspecifiedMatching MONDO:0012690 Noonan syndrome 5 skos:exactMatch mesh:C548083 semapv:UnspecifiedMatching MONDO:0012691 LEOPARD syndrome 2 skos:exactMatch DOID:0080549 Noonan syndrome with multiple lentigines 2 semapv:UnspecifiedMatching MONDO:0012691 LEOPARD syndrome 2 skos:exactMatch OMIM:611554 leopard syndrome 2 semapv:UnspecifiedMatching MONDO:0012691 LEOPARD syndrome 2 skos:exactMatch UMLS:C1969056 semapv:UnspecifiedMatching MONDO:0012691 LEOPARD syndrome 2 skos:exactMatch mesh:C537117 semapv:UnspecifiedMatching MONDO:0012692 renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies skos:exactMatch OMIM:611555 renal tubular acidosis, distal, with nephrocalcinosis, short stature, impaired intellectual development, and distinctive facies semapv:UnspecifiedMatching MONDO:0012692 renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies skos:exactMatch UMLS:C1969055 semapv:UnspecifiedMatching MONDO:0012692 renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies skos:exactMatch mesh:C566918 semapv:UnspecifiedMatching MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:exactMatch OMIM:611556 glycogen storage disease 0, muscle semapv:UnspecifiedMatching MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:exactMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:UnspecifiedMatching MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:exactMatch SCTID:725027004 semapv:UnspecifiedMatching MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:exactMatch UMLS:C1969054 semapv:UnspecifiedMatching MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:exactMatch mesh:C566917 semapv:UnspecifiedMatching MONDO:0012694 Joubert syndrome 7 skos:exactMatch DOID:0111002 Joubert syndrome 7 semapv:UnspecifiedMatching MONDO:0012694 Joubert syndrome 7 skos:exactMatch NCIT:C159653 Joubert Syndrome 7 semapv:UnspecifiedMatching MONDO:0012694 Joubert syndrome 7 skos:exactMatch OMIM:611560 joubert syndrome 7 semapv:UnspecifiedMatching MONDO:0012694 Joubert syndrome 7 skos:exactMatch UMLS:C1969053 semapv:UnspecifiedMatching MONDO:0012694 Joubert syndrome 7 skos:exactMatch mesh:C566916 semapv:UnspecifiedMatching MONDO:0012695 Meckel syndrome, type 5 skos:exactMatch DOID:0070119 Meckel syndrome 5 semapv:UnspecifiedMatching MONDO:0012695 Meckel syndrome, type 5 skos:exactMatch OMIM:611561 meckel syndrome, iia 5 semapv:UnspecifiedMatching MONDO:0012695 Meckel syndrome, type 5 skos:exactMatch UMLS:C1969052 semapv:UnspecifiedMatching MONDO:0012695 Meckel syndrome, type 5 skos:exactMatch mesh:C566915 semapv:UnspecifiedMatching MONDO:0012696 otosclerosis 4 skos:exactMatch OMIM:611571 otosclerosis 4 semapv:UnspecifiedMatching MONDO:0012696 otosclerosis 4 skos:exactMatch UMLS:C1969046 semapv:UnspecifiedMatching MONDO:0012696 otosclerosis 4 skos:exactMatch mesh:C566914 semapv:UnspecifiedMatching MONDO:0012697 otosclerosis 7 skos:exactMatch OMIM:611572 otosclerosis 7 semapv:UnspecifiedMatching MONDO:0012697 otosclerosis 7 skos:exactMatch UMLS:C1969044 semapv:UnspecifiedMatching MONDO:0012697 otosclerosis 7 skos:exactMatch mesh:C566913 semapv:UnspecifiedMatching MONDO:0012698 Waardenburg syndrome type 2E skos:exactMatch DOID:0110956 Waardenburg syndrome type 2E semapv:UnspecifiedMatching MONDO:0012698 Waardenburg syndrome type 2E skos:exactMatch OMIM:611584 waardenburg syndrome, iia 2e semapv:UnspecifiedMatching MONDO:0012698 Waardenburg syndrome type 2E skos:exactMatch UMLS:C2700405 semapv:UnspecifiedMatching MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:exactMatch DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M semapv:UnspecifiedMatching MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:exactMatch OMIM:611588 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 4 semapv:UnspecifiedMatching MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:exactMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:UnspecifiedMatching MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:exactMatch UMLS:C1969040 semapv:UnspecifiedMatching MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:exactMatch mesh:C566912 semapv:UnspecifiedMatching MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia semapv:UnspecifiedMatching MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:UnspecifiedMatching MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch UMLS:C5436235 semapv:UnspecifiedMatching MONDO:0012701 cataract 12 multiple types skos:exactMatch DOID:0110239 cataract 12 multiple types semapv:UnspecifiedMatching MONDO:0012701 cataract 12 multiple types skos:exactMatch OMIM:611597 cataract 12, multiple types semapv:UnspecifiedMatching MONDO:0012701 cataract 12 multiple types skos:exactMatch mesh:C566909 semapv:UnspecifiedMatching MONDO:0012702 celiac disease, susceptibility to, 6 skos:exactMatch OMIM:611598 celiac disease, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch NCIT:C148461 Lissencephaly 3 semapv:UnspecifiedMatching MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch OMIM:611603 lissencephaly 3 semapv:UnspecifiedMatching MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch Orphanet:171680 Lissencephaly due to TUBA1A mutation semapv:UnspecifiedMatching MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch UMLS:C5680517 semapv:UnspecifiedMatching MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch mesh:C566908 semapv:UnspecifiedMatching MONDO:0012704 dilated cardiomyopathy 1X skos:exactMatch DOID:0110444 dilated cardiomyopathy 1X semapv:UnspecifiedMatching MONDO:0012704 dilated cardiomyopathy 1X skos:exactMatch OMIM:611615 cardiomyopathy, dilated, 1x semapv:UnspecifiedMatching MONDO:0012704 dilated cardiomyopathy 1X skos:exactMatch UMLS:C1969024 semapv:UnspecifiedMatching MONDO:0012704 dilated cardiomyopathy 1X skos:exactMatch mesh:C566907 semapv:UnspecifiedMatching MONDO:0012705 familial temporal lobe epilepsy 3 skos:exactMatch DOID:0060750 familial temporal lobe epilepsy 3 semapv:UnspecifiedMatching MONDO:0012705 familial temporal lobe epilepsy 3 skos:exactMatch OMIM:611630 epilepsy, familial temporal lobe, 3 semapv:UnspecifiedMatching MONDO:0012705 familial temporal lobe epilepsy 3 skos:exactMatch UMLS:C1968848 semapv:UnspecifiedMatching MONDO:0012705 familial temporal lobe epilepsy 3 skos:exactMatch mesh:C566903 semapv:UnspecifiedMatching MONDO:0012706 familial temporal lobe epilepsy 4 skos:exactMatch DOID:0060753 familial temporal lobe epilepsy 4 semapv:UnspecifiedMatching MONDO:0012706 familial temporal lobe epilepsy 4 skos:exactMatch OMIM:611631 epilepsy, familial temporal lobe, 4 semapv:UnspecifiedMatching MONDO:0012706 familial temporal lobe epilepsy 4 skos:exactMatch UMLS:C1968847 semapv:UnspecifiedMatching MONDO:0012706 familial temporal lobe epilepsy 4 skos:exactMatch mesh:C566902 semapv:UnspecifiedMatching MONDO:0012707 familial febrile seizures 9 skos:exactMatch DOID:0111303 familial febrile seizures 9 semapv:UnspecifiedMatching MONDO:0012707 familial febrile seizures 9 skos:exactMatch OMIM:611634 febrile seizures, familial, 9 semapv:UnspecifiedMatching MONDO:0012707 familial febrile seizures 9 skos:exactMatch UMLS:C1968846 semapv:UnspecifiedMatching MONDO:0012707 familial febrile seizures 9 skos:exactMatch mesh:C566901 semapv:UnspecifiedMatching MONDO:0012708 primary lateral sclerosis, adult, 1 skos:exactMatch OMIM:611637 primary lateral sclerosis, adult, 1 semapv:UnspecifiedMatching MONDO:0012708 primary lateral sclerosis, adult, 1 skos:exactMatch mesh:C566900 semapv:UnspecifiedMatching MONDO:0012709 microphthalmia, isolated, with coloboma 5 skos:exactMatch OMIM:611638 microphthalmia, isolated, with coloboma 5 semapv:UnspecifiedMatching MONDO:0012709 microphthalmia, isolated, with coloboma 5 skos:exactMatch UMLS:C1968843 semapv:UnspecifiedMatching MONDO:0012709 microphthalmia, isolated, with coloboma 5 skos:exactMatch mesh:C566899 semapv:UnspecifiedMatching MONDO:0012710 Hirschsprung disease, susceptibility to, 9 skos:exactMatch OMIM:611644 hirschsprung disease, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0012711 peripapillary atrophy, beta type skos:exactMatch OMIM:611650 peripapillary atrophy, beta iia semapv:UnspecifiedMatching MONDO:0012711 peripapillary atrophy, beta type skos:exactMatch UMLS:C1968838 semapv:UnspecifiedMatching MONDO:0012711 peripapillary atrophy, beta type skos:exactMatch mesh:C566898 semapv:UnspecifiedMatching MONDO:0012712 dystonia with cerebellar atrophy skos:exactMatch OMIM:611694 dystonia with cerebellar atrophy semapv:UnspecifiedMatching MONDO:0012712 dystonia with cerebellar atrophy skos:exactMatch UMLS:C2673697 semapv:UnspecifiedMatching MONDO:0012712 dystonia with cerebellar atrophy skos:exactMatch mesh:C567131 semapv:UnspecifiedMatching MONDO:0012713 spondylometaphyseal dysplasia, East African type skos:exactMatch DOID:0112302 spondylometaphyseal dysplasia East African type semapv:UnspecifiedMatching MONDO:0012713 spondylometaphyseal dysplasia, East African type skos:exactMatch OMIM:611702 spondylometaphyseal dysplasia, east african iia semapv:UnspecifiedMatching MONDO:0012713 spondylometaphyseal dysplasia, East African type skos:exactMatch UMLS:C2673686 semapv:UnspecifiedMatching MONDO:0012713 spondylometaphyseal dysplasia, East African type skos:exactMatch mesh:C535796 semapv:UnspecifiedMatching MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:exactMatch DOID:0081341 congenital myopathy 5 semapv:UnspecifiedMatching MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:exactMatch OMIM:611705 congenital myopathy 5 with cardiomyopathy semapv:UnspecifiedMatching MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:exactMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:UnspecifiedMatching MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:exactMatch SCTID:702343002 semapv:UnspecifiedMatching MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:exactMatch UMLS:C2673677 semapv:UnspecifiedMatching MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:exactMatch mesh:C567129 semapv:UnspecifiedMatching MONDO:0012715 migraine with or without aura, susceptibility to, 12 skos:exactMatch OMIM:611706 migraine with or without aura, susceptibility to, 12 semapv:UnspecifiedMatching MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:UnspecifiedMatching MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:UnspecifiedMatching MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:UnspecifiedMatching MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch SCTID:718765003 semapv:UnspecifiedMatching MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch UMLS:C2673649 semapv:UnspecifiedMatching MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch mesh:C567128 semapv:UnspecifiedMatching MONDO:0012717 renal hypomagnesemia 4 skos:exactMatch DOID:0060882 renal hypomagnesemia 4 semapv:UnspecifiedMatching MONDO:0012717 renal hypomagnesemia 4 skos:exactMatch OMIM:611718 hypomagnesemia 4, renal semapv:UnspecifiedMatching MONDO:0012717 renal hypomagnesemia 4 skos:exactMatch UMLS:C2673648 semapv:UnspecifiedMatching MONDO:0012717 renal hypomagnesemia 4 skos:exactMatch mesh:C567127 semapv:UnspecifiedMatching MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:exactMatch DOID:0111473 combined oxidative phosphorylation deficiency 5 semapv:UnspecifiedMatching MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:exactMatch OMIM:611719 combined oxidative phosphorylation deficiency 5 semapv:UnspecifiedMatching MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:exactMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:UnspecifiedMatching MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:exactMatch SCTID:724279004 semapv:UnspecifiedMatching MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:exactMatch UMLS:C2673642 semapv:UnspecifiedMatching MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:exactMatch mesh:C567126 semapv:UnspecifiedMatching MONDO:0012719 combined PSAP deficiency skos:exactMatch DOID:0111330 combined saposin deficiency semapv:UnspecifiedMatching MONDO:0012719 combined PSAP deficiency skos:exactMatch OMIM:611721 combined saposin deficiency semapv:UnspecifiedMatching MONDO:0012719 combined PSAP deficiency skos:exactMatch Orphanet:139406 Encephalopathy due to prosaposin deficiency semapv:UnspecifiedMatching MONDO:0012719 combined PSAP deficiency skos:exactMatch SCTID:720864008 semapv:UnspecifiedMatching MONDO:0012719 combined PSAP deficiency skos:exactMatch UMLS:C2673635 semapv:UnspecifiedMatching MONDO:0012719 combined PSAP deficiency skos:exactMatch mesh:C567125 semapv:UnspecifiedMatching MONDO:0012720 Krabbe disease due to saposin A deficiency skos:exactMatch OMIM:611722 krabbe disease, atypical, due to saposin a deficiency semapv:UnspecifiedMatching MONDO:0012720 Krabbe disease due to saposin A deficiency skos:exactMatch UMLS:C2673266 semapv:UnspecifiedMatching MONDO:0012720 Krabbe disease due to saposin A deficiency skos:exactMatch mesh:C567097 semapv:UnspecifiedMatching MONDO:0012721 progressive myoclonic epilepsy type 3 skos:exactMatch DOID:0111446 progressive myoclonus epilepsy 3 semapv:UnspecifiedMatching MONDO:0012721 progressive myoclonic epilepsy type 3 skos:exactMatch OMIM:611726 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions semapv:UnspecifiedMatching MONDO:0012721 progressive myoclonic epilepsy type 3 skos:exactMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:UnspecifiedMatching MONDO:0012721 progressive myoclonic epilepsy type 3 skos:exactMatch UMLS:C2673257 semapv:UnspecifiedMatching MONDO:0012721 progressive myoclonic epilepsy type 3 skos:exactMatch mesh:C567095 semapv:UnspecifiedMatching MONDO:0012722 Dauwerse-Peters syndrome skos:exactMatch OMIM:611733 dauwerse-peters syndrome semapv:UnspecifiedMatching MONDO:0012722 Dauwerse-Peters syndrome skos:exactMatch UMLS:C2673203 semapv:UnspecifiedMatching MONDO:0012722 Dauwerse-Peters syndrome skos:exactMatch mesh:C567093 semapv:UnspecifiedMatching MONDO:0012723 Leber congenital amaurosis 10 skos:exactMatch DOID:0110291 Leber congenital amaurosis 10 semapv:UnspecifiedMatching MONDO:0012723 Leber congenital amaurosis 10 skos:exactMatch OMIM:611755 leber congenital amaurosis 10 semapv:UnspecifiedMatching MONDO:0012723 Leber congenital amaurosis 10 skos:exactMatch mesh:C565720 semapv:UnspecifiedMatching MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch DOID:0090063 familial cold autoinflammatory syndrome 2 semapv:UnspecifiedMatching MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch NCIT:C119043 NALP12-Associated Hereditary Periodic Fever Syndrome semapv:UnspecifiedMatching MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch OMIM:611762 familial cold autoinflammatory syndrome 2 semapv:UnspecifiedMatching MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome semapv:UnspecifiedMatching MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch UMLS:C2673198 semapv:UnspecifiedMatching MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch mesh:C567090 semapv:UnspecifiedMatching MONDO:0012725 lipoprotein glomerulopathy skos:exactMatch OMIM:611771 lipoprotein glomerulopathy semapv:UnspecifiedMatching MONDO:0012725 lipoprotein glomerulopathy skos:exactMatch Orphanet:329481 Lipoprotein glomerulopathy semapv:UnspecifiedMatching MONDO:0012725 lipoprotein glomerulopathy skos:exactMatch SCTID:446923008 semapv:UnspecifiedMatching MONDO:0012725 lipoprotein glomerulopathy skos:exactMatch UMLS:C2673196 semapv:UnspecifiedMatching MONDO:0012725 lipoprotein glomerulopathy skos:exactMatch mesh:C567089 semapv:UnspecifiedMatching MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:exactMatch OMIM:611773 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps semapv:UnspecifiedMatching MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:exactMatch Orphanet:73229 HANAC syndrome semapv:UnspecifiedMatching MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:exactMatch SCTID:702428000 semapv:UnspecifiedMatching MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:exactMatch UMLS:C2673195 semapv:UnspecifiedMatching MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:exactMatch mesh:C567088 semapv:UnspecifiedMatching MONDO:0012727 mucocutaneous lymph node syndrome skos:exactMatch DOID:13378 Kawasaki disease semapv:UnspecifiedMatching MONDO:0012727 mucocutaneous lymph node syndrome skos:exactMatch NCIT:C34825 Kawasaki Disease semapv:UnspecifiedMatching MONDO:0012727 mucocutaneous lymph node syndrome skos:exactMatch OMIM:611775 kawasaki disease semapv:UnspecifiedMatching MONDO:0012727 mucocutaneous lymph node syndrome skos:exactMatch Orphanet:2331 Kawasaki disease semapv:UnspecifiedMatching MONDO:0012727 mucocutaneous lymph node syndrome skos:exactMatch SCTID:75053002 semapv:UnspecifiedMatching MONDO:0012727 mucocutaneous lymph node syndrome skos:exactMatch UMLS:C0026691 semapv:UnspecifiedMatching MONDO:0012727 mucocutaneous lymph node syndrome skos:exactMatch mesh:D009080 semapv:UnspecifiedMatching MONDO:0012728 Brugada syndrome 2 skos:exactMatch DOID:0110219 Brugada syndrome 2 semapv:UnspecifiedMatching MONDO:0012728 Brugada syndrome 2 skos:exactMatch OMIM:611777 brugada syndrome 2 semapv:UnspecifiedMatching MONDO:0012728 Brugada syndrome 2 skos:exactMatch UMLS:C2673193 semapv:UnspecifiedMatching MONDO:0012728 Brugada syndrome 2 skos:exactMatch mesh:C567087 semapv:UnspecifiedMatching MONDO:0012729 erythrocytosis, familial, 4 skos:exactMatch DOID:0080339 familial erythrocytosis 4 semapv:UnspecifiedMatching MONDO:0012729 erythrocytosis, familial, 4 skos:exactMatch OMIM:611783 erythrocytosis, familial, 4 semapv:UnspecifiedMatching MONDO:0012729 erythrocytosis, familial, 4 skos:exactMatch UMLS:C2673187 semapv:UnspecifiedMatching MONDO:0012729 erythrocytosis, familial, 4 skos:exactMatch mesh:C567086 semapv:UnspecifiedMatching MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:exactMatch OMIM:611788 aortic aneurysm, familial thoracic 6 semapv:UnspecifiedMatching MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:exactMatch UMLS:C2673186 semapv:UnspecifiedMatching MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:exactMatch mesh:C567085 semapv:UnspecifiedMatching MONDO:0012731 elliptocytosis 1 skos:exactMatch OMIM:611804 elliptocytosis 1 semapv:UnspecifiedMatching MONDO:0012731 elliptocytosis 1 skos:exactMatch UMLS:C2678497 semapv:UnspecifiedMatching MONDO:0012731 elliptocytosis 1 skos:exactMatch mesh:C567520 semapv:UnspecifiedMatching MONDO:0012732 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus skos:exactMatch OMIM:611808 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus semapv:UnspecifiedMatching MONDO:0012732 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus skos:exactMatch UMLS:C2678494 semapv:UnspecifiedMatching MONDO:0012732 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus skos:exactMatch mesh:C567519 semapv:UnspecifiedMatching MONDO:0012733 autosomal recessive bestrophinopathy skos:exactMatch DOID:0050662 bestrophinopathy semapv:UnspecifiedMatching MONDO:0012733 autosomal recessive bestrophinopathy skos:exactMatch OMIM:611809 bestrophinopathy, autosomal recessive semapv:UnspecifiedMatching MONDO:0012733 autosomal recessive bestrophinopathy skos:exactMatch Orphanet:139455 Autosomal recessive bestrophinopathy semapv:UnspecifiedMatching MONDO:0012733 autosomal recessive bestrophinopathy skos:exactMatch SCTID:723828008 semapv:UnspecifiedMatching MONDO:0012733 autosomal recessive bestrophinopathy skos:exactMatch UMLS:C3888198 semapv:UnspecifiedMatching MONDO:0012733 autosomal recessive bestrophinopathy skos:exactMatch mesh:C567518 semapv:UnspecifiedMatching MONDO:0012734 SERKAL syndrome skos:exactMatch NCIT:C123726 SERKAL Syndrome semapv:UnspecifiedMatching MONDO:0012734 SERKAL syndrome skos:exactMatch OMIM:611812 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs semapv:UnspecifiedMatching MONDO:0012734 SERKAL syndrome skos:exactMatch Orphanet:139466 SERKAL syndrome semapv:UnspecifiedMatching MONDO:0012734 SERKAL syndrome skos:exactMatch SCTID:723720008 semapv:UnspecifiedMatching MONDO:0012734 SERKAL syndrome skos:exactMatch UMLS:C2678492 semapv:UnspecifiedMatching MONDO:0012734 SERKAL syndrome skos:exactMatch mesh:C567517 semapv:UnspecifiedMatching MONDO:0012735 Temple-Baraitser syndrome skos:exactMatch OMIM:611816 temple-baraitser syndrome semapv:UnspecifiedMatching MONDO:0012735 Temple-Baraitser syndrome skos:exactMatch Orphanet:420561 Temple-Baraitser syndrome semapv:UnspecifiedMatching MONDO:0012735 Temple-Baraitser syndrome skos:exactMatch UMLS:C2678486 semapv:UnspecifiedMatching MONDO:0012735 Temple-Baraitser syndrome skos:exactMatch mesh:C567516 semapv:UnspecifiedMatching MONDO:0012736 long QT syndrome 9 skos:exactMatch DOID:0110650 long QT syndrome 9 semapv:UnspecifiedMatching MONDO:0012736 long QT syndrome 9 skos:exactMatch OMIM:611818 long qt syndrome 9 semapv:UnspecifiedMatching MONDO:0012736 long QT syndrome 9 skos:exactMatch mesh:C567515 semapv:UnspecifiedMatching MONDO:0012737 long QT syndrome 10 skos:exactMatch DOID:0110651 long QT syndrome 10 semapv:UnspecifiedMatching MONDO:0012737 long QT syndrome 10 skos:exactMatch OMIM:611819 long qt syndrome 10 semapv:UnspecifiedMatching MONDO:0012737 long QT syndrome 10 skos:exactMatch UMLS:C2678484 semapv:UnspecifiedMatching MONDO:0012737 long QT syndrome 10 skos:exactMatch mesh:C567514 semapv:UnspecifiedMatching MONDO:0012738 long QT syndrome 11 skos:exactMatch DOID:0110652 long QT syndrome 11 semapv:UnspecifiedMatching MONDO:0012738 long QT syndrome 11 skos:exactMatch OMIM:611820 long qt syndrome 11 semapv:UnspecifiedMatching MONDO:0012738 long QT syndrome 11 skos:exactMatch UMLS:C2678483 semapv:UnspecifiedMatching MONDO:0012738 long QT syndrome 11 skos:exactMatch mesh:C567513 semapv:UnspecifiedMatching MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:exactMatch OMIM:611863 microtia with nasolacrimal duct imperforation and eye coloboma semapv:UnspecifiedMatching MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:exactMatch Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:UnspecifiedMatching MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:exactMatch UMLS:C2678482 semapv:UnspecifiedMatching MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:exactMatch mesh:C567512 semapv:UnspecifiedMatching MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch DOID:0060413 chromosome 22q11.2 deletion syndrome, distal semapv:UnspecifiedMatching MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch OMIM:611867 chromosome 22q11.2 deletion syndrome, distal semapv:UnspecifiedMatching MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch SCTID:734029004 semapv:UnspecifiedMatching MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch UMLS:C2678480 semapv:UnspecifiedMatching MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch mesh:C567511 semapv:UnspecifiedMatching MONDO:0012741 prostate cancer, hereditary, 12 skos:exactMatch OMIM:611868 prostate cancer, hereditary, 12 semapv:UnspecifiedMatching MONDO:0012741 prostate cancer, hereditary, 12 skos:exactMatch UMLS:C2678479 semapv:UnspecifiedMatching MONDO:0012741 prostate cancer, hereditary, 12 skos:exactMatch mesh:C567510 semapv:UnspecifiedMatching MONDO:0012742 Brugada syndrome 3 skos:exactMatch DOID:0110220 Brugada syndrome 3 semapv:UnspecifiedMatching MONDO:0012742 Brugada syndrome 3 skos:exactMatch OMIM:611875 brugada syndrome 3 semapv:UnspecifiedMatching MONDO:0012742 Brugada syndrome 3 skos:exactMatch UMLS:C2678478 semapv:UnspecifiedMatching MONDO:0012742 Brugada syndrome 3 skos:exactMatch mesh:C567509 semapv:UnspecifiedMatching MONDO:0012743 Brugada syndrome 4 skos:exactMatch DOID:0110221 Brugada syndrome 4 semapv:UnspecifiedMatching MONDO:0012743 Brugada syndrome 4 skos:exactMatch OMIM:611876 brugada syndrome 4 semapv:UnspecifiedMatching MONDO:0012743 Brugada syndrome 4 skos:exactMatch UMLS:C2678477 semapv:UnspecifiedMatching MONDO:0012743 Brugada syndrome 4 skos:exactMatch mesh:C567508 semapv:UnspecifiedMatching MONDO:0012744 dilated cardiomyopathy 1Y skos:exactMatch DOID:0110457 dilated cardiomyopathy 1Y semapv:UnspecifiedMatching MONDO:0012744 dilated cardiomyopathy 1Y skos:exactMatch OMIM:611878 cardiomyopathy, dilated, 1y semapv:UnspecifiedMatching MONDO:0012744 dilated cardiomyopathy 1Y skos:exactMatch mesh:C567507 semapv:UnspecifiedMatching MONDO:0012745 dilated cardiomyopathy 1Z skos:exactMatch DOID:0110434 dilated cardiomyopathy 1Z semapv:UnspecifiedMatching MONDO:0012745 dilated cardiomyopathy 1Z skos:exactMatch OMIM:611879 cardiomyopathy, dilated, 1z semapv:UnspecifiedMatching MONDO:0012745 dilated cardiomyopathy 1Z skos:exactMatch UMLS:C2678475 semapv:UnspecifiedMatching MONDO:0012745 dilated cardiomyopathy 1Z skos:exactMatch mesh:C567506 semapv:UnspecifiedMatching MONDO:0012746 dilated cardiomyopathy 2A skos:exactMatch DOID:0110460 dilated cardiomyopathy 2A semapv:UnspecifiedMatching MONDO:0012746 dilated cardiomyopathy 2A skos:exactMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:UnspecifiedMatching MONDO:0012746 dilated cardiomyopathy 2A skos:exactMatch UMLS:C2678474 semapv:UnspecifiedMatching MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:exactMatch OMIM:611881 glycogen storage disease 12 semapv:UnspecifiedMatching MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:exactMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:UnspecifiedMatching MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:exactMatch SCTID:111578003 semapv:UnspecifiedMatching MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:exactMatch UMLS:C0272066 semapv:UnspecifiedMatching MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:exactMatch mesh:C562718 semapv:UnspecifiedMatching MONDO:0012748 primary ciliary dyskinesia 7 skos:exactMatch DOID:0110605 primary ciliary dyskinesia 7 semapv:UnspecifiedMatching MONDO:0012748 primary ciliary dyskinesia 7 skos:exactMatch OMIM:611884 ciliary dyskinesia, primary, 7 semapv:UnspecifiedMatching MONDO:0012748 primary ciliary dyskinesia 7 skos:exactMatch UMLS:C2678473 semapv:UnspecifiedMatching MONDO:0012748 primary ciliary dyskinesia 7 skos:exactMatch mesh:C567504 semapv:UnspecifiedMatching MONDO:0012749 mesomelic dysplasia, camera type skos:exactMatch OMIM:611886 mesomelic dysplasia, camera iia semapv:UnspecifiedMatching MONDO:0012749 mesomelic dysplasia, camera type skos:exactMatch UMLS:C2678472 semapv:UnspecifiedMatching MONDO:0012749 mesomelic dysplasia, camera type skos:exactMatch mesh:C567503 semapv:UnspecifiedMatching MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:exactMatch OMIM:611890 congenital arthrogryposis with anterior horn cell disease semapv:UnspecifiedMatching MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:exactMatch Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome semapv:UnspecifiedMatching MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:exactMatch SCTID:715565004 semapv:UnspecifiedMatching MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:exactMatch UMLS:C5193016 semapv:UnspecifiedMatching MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:exactMatch mesh:C567502 semapv:UnspecifiedMatching MONDO:0012751 aortic aneurysm, familial abdominal, 3 skos:exactMatch OMIM:611891 aortic aneurysm, familial abdominal, 3 semapv:UnspecifiedMatching MONDO:0012751 aortic aneurysm, familial abdominal, 3 skos:exactMatch UMLS:C2678470 semapv:UnspecifiedMatching MONDO:0012751 aortic aneurysm, familial abdominal, 3 skos:exactMatch mesh:C567501 semapv:UnspecifiedMatching MONDO:0012752 aneurysm, intracranial berry, 6 skos:exactMatch DOID:0080969 intracranial berry aneurysm 6 semapv:UnspecifiedMatching MONDO:0012752 aneurysm, intracranial berry, 6 skos:exactMatch OMIM:611892 aneurysm, intracranial berry, 6 semapv:UnspecifiedMatching MONDO:0012752 aneurysm, intracranial berry, 6 skos:exactMatch UMLS:C2678469 semapv:UnspecifiedMatching MONDO:0012752 aneurysm, intracranial berry, 6 skos:exactMatch mesh:C567500 semapv:UnspecifiedMatching MONDO:0012753 amyotrophic lateral sclerosis type 9 skos:exactMatch DOID:0060200 amyotrophic lateral sclerosis type 9 semapv:UnspecifiedMatching MONDO:0012753 amyotrophic lateral sclerosis type 9 skos:exactMatch OMIM:611895 amyotrophic lateral sclerosis 9 semapv:UnspecifiedMatching MONDO:0012753 amyotrophic lateral sclerosis type 9 skos:exactMatch UMLS:C2678468 semapv:UnspecifiedMatching MONDO:0012753 amyotrophic lateral sclerosis type 9 skos:exactMatch mesh:C567499 semapv:UnspecifiedMatching MONDO:0012754 nanophthalmos 3 skos:exactMatch OMIM:611897 nanophthalmos 3 semapv:UnspecifiedMatching MONDO:0012754 nanophthalmos 3 skos:exactMatch UMLS:C2678467 semapv:UnspecifiedMatching MONDO:0012754 nanophthalmos 3 skos:exactMatch mesh:C567498 semapv:UnspecifiedMatching MONDO:0012755 episodic ataxia type 7 skos:exactMatch DOID:0050995 episodic ataxia type 7 semapv:UnspecifiedMatching MONDO:0012755 episodic ataxia type 7 skos:exactMatch OMIM:611907 episodic ataxia, iia 7 semapv:UnspecifiedMatching MONDO:0012755 episodic ataxia type 7 skos:exactMatch Orphanet:209970 Episodic ataxia type 7 semapv:UnspecifiedMatching MONDO:0012755 episodic ataxia type 7 skos:exactMatch SCTID:718752007 semapv:UnspecifiedMatching MONDO:0012755 episodic ataxia type 7 skos:exactMatch UMLS:C2677843 semapv:UnspecifiedMatching MONDO:0012755 episodic ataxia type 7 skos:exactMatch mesh:C567459 semapv:UnspecifiedMatching MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch NCIT:C120408 Chromosome 16p11.2 Deletion Syndrome semapv:UnspecifiedMatching MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb semapv:UnspecifiedMatching MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch Orphanet:261197 Proximal 16p11.2 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch SCTID:699307007 semapv:UnspecifiedMatching MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch SCTID:718227006 semapv:UnspecifiedMatching MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch UMLS:C3150154 semapv:UnspecifiedMatching MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch mesh:C579850 semapv:UnspecifiedMatching MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:exactMatch OMIM:611926 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis semapv:UnspecifiedMatching MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:exactMatch Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome semapv:UnspecifiedMatching MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:exactMatch SCTID:721977007 semapv:UnspecifiedMatching MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:exactMatch UMLS:C3150156 semapv:UnspecifiedMatching MONDO:0012758 prostate cancer, hereditary, 13 skos:exactMatch OMIM:611928 prostate cancer, hereditary, 13 semapv:UnspecifiedMatching MONDO:0012758 prostate cancer, hereditary, 13 skos:exactMatch UMLS:C2677821 semapv:UnspecifiedMatching MONDO:0012758 prostate cancer, hereditary, 13 skos:exactMatch mesh:C567456 semapv:UnspecifiedMatching MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:exactMatch OMIM:611929 camptodactyly syndrome, guadalajara, iia 3 semapv:UnspecifiedMatching MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:exactMatch Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 semapv:UnspecifiedMatching MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:exactMatch UMLS:C2677809 semapv:UnspecifiedMatching MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:exactMatch mesh:C567455 semapv:UnspecifiedMatching MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 skos:exactMatch DOID:0111320 idiopathic generalized epilepsy 5 semapv:UnspecifiedMatching MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 skos:exactMatch OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012761 chromosome 3q29 microduplication syndrome skos:exactMatch DOID:0060459 chromosome 3q29 microduplication syndrome semapv:UnspecifiedMatching MONDO:0012761 chromosome 3q29 microduplication syndrome skos:exactMatch OMIM:611936 chromosome 3q29 duplication syndrome semapv:UnspecifiedMatching MONDO:0012761 chromosome 3q29 microduplication syndrome skos:exactMatch Orphanet:251038 3q29 microduplication syndrome semapv:UnspecifiedMatching MONDO:0012761 chromosome 3q29 microduplication syndrome skos:exactMatch SCTID:717973004 semapv:UnspecifiedMatching MONDO:0012761 chromosome 3q29 microduplication syndrome skos:exactMatch UMLS:C2749873 semapv:UnspecifiedMatching MONDO:0012761 chromosome 3q29 microduplication syndrome skos:exactMatch mesh:C567626 semapv:UnspecifiedMatching MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:exactMatch DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 semapv:UnspecifiedMatching MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:exactMatch NCIT:C148368 Catecholaminergic Polymorphic Ventricular Tachycardia Type 2 semapv:UnspecifiedMatching MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:exactMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:UnspecifiedMatching MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:exactMatch UMLS:C2677794 semapv:UnspecifiedMatching MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 skos:exactMatch OMIM:611942 epilepsy, childhood absence, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012764 RIDDLE syndrome skos:exactMatch DOID:0090113 RIDDLE syndrome semapv:UnspecifiedMatching MONDO:0012764 RIDDLE syndrome skos:exactMatch OMIM:611943 riddle syndrome semapv:UnspecifiedMatching MONDO:0012764 RIDDLE syndrome skos:exactMatch Orphanet:420741 RIDDLE syndrome semapv:UnspecifiedMatching MONDO:0012764 RIDDLE syndrome skos:exactMatch UMLS:C2677792 semapv:UnspecifiedMatching MONDO:0012764 RIDDLE syndrome skos:exactMatch mesh:C567453 semapv:UnspecifiedMatching MONDO:0012765 lymphatic malformation 2 skos:exactMatch DOID:0070211 hereditary lymphedema IB semapv:UnspecifiedMatching MONDO:0012765 lymphatic malformation 2 skos:exactMatch OMIM:611944 lymphatic malformation 2 semapv:UnspecifiedMatching MONDO:0012765 lymphatic malformation 2 skos:exactMatch UMLS:C4747568 semapv:UnspecifiedMatching MONDO:0012765 lymphatic malformation 2 skos:exactMatch mesh:C567452 semapv:UnspecifiedMatching MONDO:0012766 hereditary spastic paraplegia 37 skos:exactMatch DOID:0110788 hereditary spastic paraplegia 37 semapv:UnspecifiedMatching MONDO:0012766 hereditary spastic paraplegia 37 skos:exactMatch OMIM:611945 spastic paraplegia 37, autosomal dominant semapv:UnspecifiedMatching MONDO:0012766 hereditary spastic paraplegia 37 skos:exactMatch Orphanet:171612 Autosomal dominant spastic paraplegia type 37 semapv:UnspecifiedMatching MONDO:0012766 hereditary spastic paraplegia 37 skos:exactMatch SCTID:763369007 semapv:UnspecifiedMatching MONDO:0012766 hereditary spastic paraplegia 37 skos:exactMatch UMLS:C2936880 semapv:UnspecifiedMatching MONDO:0012766 hereditary spastic paraplegia 37 skos:exactMatch mesh:C567931 semapv:UnspecifiedMatching MONDO:0012767 age related macular degeneration 11 skos:exactMatch DOID:0110023 age related macular degeneration 11 semapv:UnspecifiedMatching MONDO:0012767 age related macular degeneration 11 skos:exactMatch OMIM:611953 macular degeneration, age-related, 11 semapv:UnspecifiedMatching MONDO:0012767 age related macular degeneration 11 skos:exactMatch UMLS:C2677774 semapv:UnspecifiedMatching MONDO:0012767 age related macular degeneration 11 skos:exactMatch mesh:C567450 semapv:UnspecifiedMatching MONDO:0012768 prostate cancer, hereditary, 11 skos:exactMatch OMIM:611955 prostate cancer, hereditary, 11 semapv:UnspecifiedMatching MONDO:0012768 prostate cancer, hereditary, 11 skos:exactMatch UMLS:C2677773 semapv:UnspecifiedMatching MONDO:0012768 prostate cancer, hereditary, 11 skos:exactMatch mesh:C567449 semapv:UnspecifiedMatching MONDO:0012769 prostate cancer, hereditary, 14 skos:exactMatch OMIM:611958 prostate cancer, hereditary, 14 semapv:UnspecifiedMatching MONDO:0012769 prostate cancer, hereditary, 14 skos:exactMatch UMLS:C2677772 semapv:UnspecifiedMatching MONDO:0012769 prostate cancer, hereditary, 14 skos:exactMatch mesh:C567448 semapv:UnspecifiedMatching MONDO:0012770 prostate cancer, hereditary, 15 skos:exactMatch OMIM:611959 prostate cancer, hereditary, 15 semapv:UnspecifiedMatching MONDO:0012770 prostate cancer, hereditary, 15 skos:exactMatch UMLS:C2677771 semapv:UnspecifiedMatching MONDO:0012770 prostate cancer, hereditary, 15 skos:exactMatch mesh:C567447 semapv:UnspecifiedMatching MONDO:0012771 asthma-related traits, susceptibility to, 7 skos:exactMatch OMIM:611960 asthma-related traits, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012772 Stevenson-Carey syndrome skos:exactMatch OMIM:611961 stevenson-carey syndrome semapv:UnspecifiedMatching MONDO:0012772 Stevenson-Carey syndrome skos:exactMatch UMLS:C2677763 semapv:UnspecifiedMatching MONDO:0012772 Stevenson-Carey syndrome skos:exactMatch mesh:C567446 semapv:UnspecifiedMatching MONDO:0012773 Hunter-Macdonald syndrome skos:exactMatch OMIM:611962 hunter-macdonald syndrome semapv:UnspecifiedMatching MONDO:0012773 Hunter-Macdonald syndrome skos:exactMatch UMLS:C2677745 semapv:UnspecifiedMatching MONDO:0012773 Hunter-Macdonald syndrome skos:exactMatch mesh:C567445 semapv:UnspecifiedMatching MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:exactMatch DOID:0060394 chromosome 15q13.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:exactMatch OMIM:612001 chromosome 15q13.3 deletion syndrome semapv:UnspecifiedMatching MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:exactMatch Orphanet:199318 15q13.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:exactMatch SCTID:699254009 semapv:UnspecifiedMatching MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:exactMatch mesh:C567439 semapv:UnspecifiedMatching MONDO:0012775 thrombocytopenia 4 skos:exactMatch OMIM:612004 thrombocytopenia 4 semapv:UnspecifiedMatching MONDO:0012775 thrombocytopenia 4 skos:exactMatch UMLS:C2677608 semapv:UnspecifiedMatching MONDO:0012775 thrombocytopenia 4 skos:exactMatch mesh:C567438 semapv:UnspecifiedMatching MONDO:0012776 celiac disease, susceptibility to, 7 skos:exactMatch OMIM:612005 celiac disease, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012777 celiac disease, susceptibility to, 8 skos:exactMatch OMIM:612006 celiac disease, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012778 celiac disease, susceptibility to, 9 skos:exactMatch OMIM:612007 celiac disease, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0012779 celiac disease, susceptibility to, 10 skos:exactMatch OMIM:612008 celiac disease, susceptibility to, 10 semapv:UnspecifiedMatching MONDO:0012780 celiac disease, susceptibility to, 11 skos:exactMatch OMIM:612009 celiac disease, susceptibility to, 11 semapv:UnspecifiedMatching MONDO:0012781 celiac disease, susceptibility to, 12 skos:exactMatch OMIM:612010 celiac disease, susceptibility to, 12 semapv:UnspecifiedMatching MONDO:0012782 celiac disease, susceptibility to, 13 skos:exactMatch OMIM:612011 celiac disease, susceptibility to, 13 semapv:UnspecifiedMatching MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch DOID:0080566 congenital disorder of glycosylation In semapv:UnspecifiedMatching MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch OMIM:612015 congenital disorder of glycosylation, iia in semapv:UnspecifiedMatching MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch Orphanet:244310 RFT1-CDG semapv:UnspecifiedMatching MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch SCTID:733084000 semapv:UnspecifiedMatching MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch UMLS:C2677590 semapv:UnspecifiedMatching MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch mesh:C567437 semapv:UnspecifiedMatching MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:exactMatch DOID:0070241 primary coenzyme Q10 deficiency 4 semapv:UnspecifiedMatching MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:exactMatch OMIM:612016 coenzyme Q10 deficiency, primary, 4 semapv:UnspecifiedMatching MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:exactMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:UnspecifiedMatching MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:exactMatch SCTID:725394006 semapv:UnspecifiedMatching MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:exactMatch UMLS:C2677589 semapv:UnspecifiedMatching MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:exactMatch mesh:C567436 semapv:UnspecifiedMatching MONDO:0012785 pyloric stenosis, infantile hypertrophic, 3 skos:exactMatch OMIM:612017 pyloric stenosis, infantile hypertrophic, 3 semapv:UnspecifiedMatching MONDO:0012785 pyloric stenosis, infantile hypertrophic, 3 skos:exactMatch UMLS:C2677588 semapv:UnspecifiedMatching MONDO:0012785 pyloric stenosis, infantile hypertrophic, 3 skos:exactMatch mesh:C567435 semapv:UnspecifiedMatching MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:exactMatch DOID:0070353 cataract 47 semapv:UnspecifiedMatching MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:exactMatch OMIM:612018 cataract 47 semapv:UnspecifiedMatching MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:exactMatch Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome semapv:UnspecifiedMatching MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:exactMatch SCTID:722457005 semapv:UnspecifiedMatching MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:exactMatch UMLS:C4310806 semapv:UnspecifiedMatching MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:exactMatch mesh:C567434 semapv:UnspecifiedMatching MONDO:0012787 hereditary spastic paraplegia 39 skos:exactMatch DOID:0110790 hereditary spastic paraplegia 39 semapv:UnspecifiedMatching MONDO:0012787 hereditary spastic paraplegia 39 skos:exactMatch OMIM:612020 spastic paraplegia 39, autosomal recessive semapv:UnspecifiedMatching MONDO:0012787 hereditary spastic paraplegia 39 skos:exactMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:UnspecifiedMatching MONDO:0012787 hereditary spastic paraplegia 39 skos:exactMatch SCTID:719103009 semapv:UnspecifiedMatching MONDO:0012787 hereditary spastic paraplegia 39 skos:exactMatch UMLS:C2677586 semapv:UnspecifiedMatching MONDO:0012787 hereditary spastic paraplegia 39 skos:exactMatch mesh:C567433 semapv:UnspecifiedMatching MONDO:0012788 coronary heart disease, susceptibility to, 9 skos:exactMatch OMIM:612030 coronary heart disease, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0012789 dystonia 16 skos:exactMatch DOID:0090048 dystonia 16 semapv:UnspecifiedMatching MONDO:0012789 dystonia 16 skos:exactMatch NCIT:C168729 Dystonia 16 semapv:UnspecifiedMatching MONDO:0012789 dystonia 16 skos:exactMatch OMIM:612067 dystonia 16 semapv:UnspecifiedMatching MONDO:0012789 dystonia 16 skos:exactMatch Orphanet:210571 Dystonia 16 semapv:UnspecifiedMatching MONDO:0012789 dystonia 16 skos:exactMatch SCTID:722435003 semapv:UnspecifiedMatching MONDO:0012789 dystonia 16 skos:exactMatch UMLS:C2677567 semapv:UnspecifiedMatching MONDO:0012789 dystonia 16 skos:exactMatch mesh:C567430 semapv:UnspecifiedMatching MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:exactMatch DOID:0060201 amyotrophic lateral sclerosis type 10 semapv:UnspecifiedMatching MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:exactMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:UnspecifiedMatching MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:exactMatch UMLS:C2677565 semapv:UnspecifiedMatching MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:exactMatch mesh:C567429 semapv:UnspecifiedMatching MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:exactMatch DOID:0080124 mitochondrial DNA depletion syndrome 5 semapv:UnspecifiedMatching MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:exactMatch OMIM:612073 mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:UnspecifiedMatching MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:exactMatch Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria semapv:UnspecifiedMatching MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:exactMatch mesh:C567624 semapv:UnspecifiedMatching MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:exactMatch DOID:0070331 mitochondrial DNA depletion syndrome 8b semapv:UnspecifiedMatching MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:exactMatch DOID:0080127 mitochondrial DNA depletion syndrome 8a semapv:UnspecifiedMatching MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:exactMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:UnspecifiedMatching MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:exactMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:UnspecifiedMatching MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:exactMatch SCTID:765100000 semapv:UnspecifiedMatching MONDO:0012793 hypouricemia, renal, 2 skos:exactMatch OMIM:612076 hypouricemia, renal, 2 semapv:UnspecifiedMatching MONDO:0012793 hypouricemia, renal, 2 skos:exactMatch UMLS:C2677549 semapv:UnspecifiedMatching MONDO:0012793 hypouricemia, renal, 2 skos:exactMatch mesh:C567426 semapv:UnspecifiedMatching MONDO:0012794 ANE syndrome skos:exactMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:UnspecifiedMatching MONDO:0012794 ANE syndrome skos:exactMatch OMIM:612079 alopecia, neurologic defects, and endocrinopathy syndrome semapv:UnspecifiedMatching MONDO:0012794 ANE syndrome skos:exactMatch Orphanet:157954 ANE syndrome semapv:UnspecifiedMatching MONDO:0012794 ANE syndrome skos:exactMatch UMLS:C2677535 semapv:UnspecifiedMatching MONDO:0012794 ANE syndrome skos:exactMatch mesh:C567425 semapv:UnspecifiedMatching MONDO:0012795 hypophosphatemic rickets and hyperparathyroidism skos:exactMatch OMIM:612089 hypophosphatemic rickets and hyperparathyroidism semapv:UnspecifiedMatching MONDO:0012795 hypophosphatemic rickets and hyperparathyroidism skos:exactMatch UMLS:C2677524 semapv:UnspecifiedMatching MONDO:0012795 hypophosphatemic rickets and hyperparathyroidism skos:exactMatch mesh:C567423 semapv:UnspecifiedMatching MONDO:0012796 retinitis pigmentosa 41 skos:exactMatch DOID:0110376 retinitis pigmentosa 41 semapv:UnspecifiedMatching MONDO:0012796 retinitis pigmentosa 41 skos:exactMatch OMIM:612095 retinitis pigmentosa 41 semapv:UnspecifiedMatching MONDO:0012796 retinitis pigmentosa 41 skos:exactMatch UMLS:C2677516 semapv:UnspecifiedMatching MONDO:0012796 retinitis pigmentosa 41 skos:exactMatch mesh:C567422 semapv:UnspecifiedMatching MONDO:0012797 otosclerosis 8 skos:exactMatch OMIM:612096 otosclerosis 8 semapv:UnspecifiedMatching MONDO:0012797 otosclerosis 8 skos:exactMatch UMLS:C2677515 semapv:UnspecifiedMatching MONDO:0012797 otosclerosis 8 skos:exactMatch mesh:C567421 semapv:UnspecifiedMatching MONDO:0012798 deafness, unilateral, with delayed endolymphatic hydrops skos:exactMatch OMIM:612097 deafness, unilateral, with delayed endolymphatic hydrops semapv:UnspecifiedMatching MONDO:0012798 deafness, unilateral, with delayed endolymphatic hydrops skos:exactMatch UMLS:C2677512 semapv:UnspecifiedMatching MONDO:0012798 deafness, unilateral, with delayed endolymphatic hydrops skos:exactMatch mesh:C567420 semapv:UnspecifiedMatching MONDO:0012799 hypertrophic cardiomyopathy 11 skos:exactMatch DOID:0110317 hypertrophic cardiomyopathy 11 semapv:UnspecifiedMatching MONDO:0012799 hypertrophic cardiomyopathy 11 skos:exactMatch OMIM:612098 cardiomyopathy, familial hypertrophic, 11 semapv:UnspecifiedMatching MONDO:0012799 hypertrophic cardiomyopathy 11 skos:exactMatch UMLS:C2677506 semapv:UnspecifiedMatching MONDO:0012799 hypertrophic cardiomyopathy 11 skos:exactMatch mesh:C567419 semapv:UnspecifiedMatching MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:exactMatch OMIM:612099 trichoepithelioma, multiple familial, 2 semapv:UnspecifiedMatching MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:exactMatch UMLS:C2677505 semapv:UnspecifiedMatching MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:exactMatch mesh:C567418 semapv:UnspecifiedMatching MONDO:0012801 autism, susceptibility to, 15 skos:exactMatch OMIM:612100 autism, susceptibility to, 15 semapv:UnspecifiedMatching MONDO:0012802 oculoauricular syndrome skos:exactMatch DOID:0060482 oculoauricular syndrome semapv:UnspecifiedMatching MONDO:0012802 oculoauricular syndrome skos:exactMatch OMIM:612109 oculoauricular syndrome semapv:UnspecifiedMatching MONDO:0012802 oculoauricular syndrome skos:exactMatch Orphanet:157962 Oculoauricular syndrome, Schorderet type semapv:UnspecifiedMatching MONDO:0012802 oculoauricular syndrome skos:exactMatch UMLS:C2677500 semapv:UnspecifiedMatching MONDO:0012802 oculoauricular syndrome skos:exactMatch mesh:C567416 semapv:UnspecifiedMatching MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:exactMatch OMIM:612119 trehalase deficiency semapv:UnspecifiedMatching MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:exactMatch Orphanet:103909 Trehalase deficiency semapv:UnspecifiedMatching MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:exactMatch SCTID:84193000 semapv:UnspecifiedMatching MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:exactMatch UMLS:C0268187 semapv:UnspecifiedMatching MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:exactMatch mesh:C562603 semapv:UnspecifiedMatching MONDO:0012804 hypertrophic cardiomyopathy 12 skos:exactMatch DOID:0110318 hypertrophic cardiomyopathy 12 semapv:UnspecifiedMatching MONDO:0012804 hypertrophic cardiomyopathy 12 skos:exactMatch OMIM:612124 cardiomyopathy, familial hypertrophic, 12 semapv:UnspecifiedMatching MONDO:0012804 hypertrophic cardiomyopathy 12 skos:exactMatch UMLS:C2677491 semapv:UnspecifiedMatching MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 semapv:UnspecifiedMatching MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:UnspecifiedMatching MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:UnspecifiedMatching MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch SCTID:724072002 semapv:UnspecifiedMatching MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch UMLS:C1842534 semapv:UnspecifiedMatching MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch mesh:C564288 semapv:UnspecifiedMatching MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch DOID:0081079 ectodermal dysplasia and immunodeficiency 2 semapv:UnspecifiedMatching MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch NCIT:C176826 Ectodermal Dysplasia and Immunodeficiency 2 semapv:UnspecifiedMatching MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch OMIM:612132 ectodermal dysplasia and immunodeficiency 2 semapv:UnspecifiedMatching MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch UMLS:C2677481 semapv:UnspecifiedMatching MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch mesh:C567411 semapv:UnspecifiedMatching MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:exactMatch OMIM:612138 epidermolysis bullosa simplex 5c, with pyloric atresia semapv:UnspecifiedMatching MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:exactMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:UnspecifiedMatching MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:exactMatch SCTID:716701004 semapv:UnspecifiedMatching MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:exactMatch UMLS:C2677349 semapv:UnspecifiedMatching MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:exactMatch mesh:C567408 semapv:UnspecifiedMatching MONDO:0012808 dilated cardiomyopathy 1AA skos:exactMatch DOID:0110428 dilated cardiomyopathy 1AA semapv:UnspecifiedMatching MONDO:0012808 dilated cardiomyopathy 1AA skos:exactMatch OMIM:612158 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction semapv:UnspecifiedMatching MONDO:0012808 dilated cardiomyopathy 1AA skos:exactMatch UMLS:C2677338 semapv:UnspecifiedMatching MONDO:0012808 dilated cardiomyopathy 1AA skos:exactMatch mesh:C567407 semapv:UnspecifiedMatching MONDO:0012809 histiocytoma, Angiomatoid fibrous skos:exactMatch NCIT:C6494 Angiomatoid Fibrous Histiocytoma semapv:UnspecifiedMatching MONDO:0012809 histiocytoma, Angiomatoid fibrous skos:exactMatch OMIM:612160 histiocytoma, angiomatoid fibrous semapv:UnspecifiedMatching MONDO:0012809 histiocytoma, Angiomatoid fibrous skos:exactMatch Orphanet:569164 Angiomatoid fibrous histiocytoma semapv:UnspecifiedMatching MONDO:0012809 histiocytoma, Angiomatoid fibrous skos:exactMatch UMLS:C1266127 semapv:UnspecifiedMatching MONDO:0012809 histiocytoma, Angiomatoid fibrous skos:exactMatch mesh:C563181 semapv:UnspecifiedMatching MONDO:0012810 aneurysm, intracranial berry, 7 skos:exactMatch DOID:0080970 intracranial berry aneurysm 7 semapv:UnspecifiedMatching MONDO:0012810 aneurysm, intracranial berry, 7 skos:exactMatch OMIM:612161 aneurysm, intracranial berry, 7 semapv:UnspecifiedMatching MONDO:0012810 aneurysm, intracranial berry, 7 skos:exactMatch UMLS:C2677337 semapv:UnspecifiedMatching MONDO:0012810 aneurysm, intracranial berry, 7 skos:exactMatch mesh:C567406 semapv:UnspecifiedMatching MONDO:0012811 aneurysm, intracranial berry, 8 skos:exactMatch DOID:0080971 intracranial berry aneurysm 8 semapv:UnspecifiedMatching MONDO:0012811 aneurysm, intracranial berry, 8 skos:exactMatch OMIM:612162 aneurysm, intracranial berry, 8 semapv:UnspecifiedMatching MONDO:0012811 aneurysm, intracranial berry, 8 skos:exactMatch UMLS:C2677336 semapv:UnspecifiedMatching MONDO:0012811 aneurysm, intracranial berry, 8 skos:exactMatch mesh:C567405 semapv:UnspecifiedMatching MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:exactMatch DOID:0080436 developmental and epileptic encephalopathy 4 semapv:UnspecifiedMatching MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:exactMatch NCIT:C162472 Developmental and Epileptic Encephalopathy 4 semapv:UnspecifiedMatching MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:exactMatch OMIM:612164 developmental and epileptic encephalopathy 4 semapv:UnspecifiedMatching MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:exactMatch Orphanet:599373 STXBP1-related encephalopathy semapv:UnspecifiedMatching MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:exactMatch SCTID:768666006 semapv:UnspecifiedMatching MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:exactMatch UMLS:C2677326 semapv:UnspecifiedMatching MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:exactMatch mesh:C567404 semapv:UnspecifiedMatching MONDO:0012813 retinitis pigmentosa 29 skos:exactMatch DOID:0110378 retinitis pigmentosa 29 semapv:UnspecifiedMatching MONDO:0012813 retinitis pigmentosa 29 skos:exactMatch OMIM:612165 retinitis pigmentosa 29 semapv:UnspecifiedMatching MONDO:0012813 retinitis pigmentosa 29 skos:exactMatch UMLS:C2677325 semapv:UnspecifiedMatching MONDO:0012813 retinitis pigmentosa 29 skos:exactMatch mesh:C567403 semapv:UnspecifiedMatching MONDO:0012814 diastasis recti and weakness of the linea alba skos:exactMatch OMIM:612198 diastasis recti and weakness of the linea alba semapv:UnspecifiedMatching MONDO:0012814 diastasis recti and weakness of the linea alba skos:exactMatch UMLS:C2677303 semapv:UnspecifiedMatching MONDO:0012814 diastasis recti and weakness of the linea alba skos:exactMatch mesh:C567402 semapv:UnspecifiedMatching MONDO:0012815 Coats plus syndrome skos:exactMatch OMIMPS:612199 semapv:UnspecifiedMatching MONDO:0012815 Coats plus syndrome skos:exactMatch Orphanet:313838 Coats plus syndrome semapv:UnspecifiedMatching MONDO:0012815 Coats plus syndrome skos:exactMatch SCTID:711482008 semapv:UnspecifiedMatching MONDO:0012815 Coats plus syndrome skos:exactMatch UMLS:C2677299 semapv:UnspecifiedMatching MONDO:0012815 Coats plus syndrome skos:exactMatch mesh:C567401 semapv:UnspecifiedMatching MONDO:0012816 atrial fibrillation, familial, 6 skos:exactMatch OMIM:612201 atrial fibrillation, familial, 6 semapv:UnspecifiedMatching MONDO:0012816 atrial fibrillation, familial, 6 skos:exactMatch UMLS:C2677294 semapv:UnspecifiedMatching MONDO:0012816 atrial fibrillation, familial, 6 skos:exactMatch mesh:C567400 semapv:UnspecifiedMatching MONDO:0012817 Ewing sarcoma skos:exactMatch DOID:3369 Ewing sarcoma semapv:UnspecifiedMatching MONDO:0012817 Ewing sarcoma skos:exactMatch NCIT:C4817 Ewing Sarcoma semapv:UnspecifiedMatching MONDO:0012817 Ewing sarcoma skos:exactMatch OMIM:612219 ewing sarcoma semapv:UnspecifiedMatching MONDO:0012817 Ewing sarcoma skos:exactMatch Orphanet:319 Skeletal Ewing sarcoma semapv:UnspecifiedMatching MONDO:0012817 Ewing sarcoma skos:exactMatch UMLS:C0553580 semapv:UnspecifiedMatching MONDO:0012817 Ewing sarcoma skos:exactMatch mesh:D012512 semapv:UnspecifiedMatching MONDO:0012818 maturity-onset diabetes of the young type 9 skos:exactMatch DOID:0111107 maturity-onset diabetes of the young type 9 semapv:UnspecifiedMatching MONDO:0012818 maturity-onset diabetes of the young type 9 skos:exactMatch OMIM:612225 maturity-onset diabetes of the young, iia 9 semapv:UnspecifiedMatching MONDO:0012818 maturity-onset diabetes of the young type 9 skos:exactMatch SCTID:609576002 semapv:UnspecifiedMatching MONDO:0012818 maturity-onset diabetes of the young type 9 skos:exactMatch UMLS:C2677132 semapv:UnspecifiedMatching MONDO:0012818 maturity-onset diabetes of the young type 9 skos:exactMatch mesh:C567393 semapv:UnspecifiedMatching MONDO:0012819 diabetic ketoacidosis skos:exactMatch DOID:1837 diabetic ketoacidosis semapv:UnspecifiedMatching MONDO:0012819 diabetic ketoacidosis skos:exactMatch SCTID:420422005 semapv:UnspecifiedMatching MONDO:0012819 diabetic ketoacidosis skos:exactMatch UMLS:C0011880 semapv:UnspecifiedMatching MONDO:0012819 diabetic ketoacidosis skos:exactMatch mesh:D016883 semapv:UnspecifiedMatching MONDO:0012820 colorectal cancer, susceptibility to, 3 skos:exactMatch OMIM:612229 colorectal cancer, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012821 colorectal cancer, susceptibility to, 5 skos:exactMatch OMIM:612230 colorectal cancer, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012822 colorectal cancer, susceptibility to, 6 skos:exactMatch OMIM:612231 colorectal cancer, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012823 colorectal cancer, susceptibility to, 7 skos:exactMatch OMIM:612232 colorectal cancer, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch DOID:0060789 hypomyelinating leukodystrophy 4 semapv:UnspecifiedMatching MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:UnspecifiedMatching MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:UnspecifiedMatching MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch UMLS:C2677109 semapv:UnspecifiedMatching MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch mesh:C567390 semapv:UnspecifiedMatching MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:exactMatch NCIT:C27502 Extraskeletal Myxoid Chondrosarcoma semapv:UnspecifiedMatching MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:exactMatch OMIM:612237 chondrosarcoma, extraskeletal myxoid semapv:UnspecifiedMatching MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:exactMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:UnspecifiedMatching MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:exactMatch SCTID:404079008 semapv:UnspecifiedMatching MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:exactMatch UMLS:C1275278 semapv:UnspecifiedMatching MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:exactMatch mesh:C563195 semapv:UnspecifiedMatching MONDO:0012826 scoliosis, isolated, susceptibility to, 4 skos:exactMatch OMIM:612238 scoliosis, isolated, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012827 scoliosis, isolated, susceptibility to, 5 skos:exactMatch OMIM:612239 scoliosis, isolated, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012828 atrial fibrillation, familial, 7 skos:exactMatch OMIM:612240 atrial fibrillation, familial, 7 semapv:UnspecifiedMatching MONDO:0012828 atrial fibrillation, familial, 7 skos:exactMatch UMLS:C2677106 semapv:UnspecifiedMatching MONDO:0012828 atrial fibrillation, familial, 7 skos:exactMatch mesh:C567389 semapv:UnspecifiedMatching MONDO:0012829 inflammatory bowel disease 12 skos:exactMatch DOID:0110887 inflammatory bowel disease 12 semapv:UnspecifiedMatching MONDO:0012829 inflammatory bowel disease 12 skos:exactMatch OMIM:612241 inflammatory bowel disease 12 semapv:UnspecifiedMatching MONDO:0012829 inflammatory bowel disease 12 skos:exactMatch UMLS:C2677105 semapv:UnspecifiedMatching MONDO:0012829 inflammatory bowel disease 12 skos:exactMatch mesh:C567388 semapv:UnspecifiedMatching MONDO:0012830 chromosome 10q23 deletion syndrome skos:exactMatch DOID:0060389 chromosome 10q23 deletion syndrome semapv:UnspecifiedMatching MONDO:0012830 chromosome 10q23 deletion syndrome skos:exactMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0012830 chromosome 10q23 deletion syndrome skos:exactMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012830 chromosome 10q23 deletion syndrome skos:exactMatch UMLS:C4225669 semapv:UnspecifiedMatching MONDO:0012830 chromosome 10q23 deletion syndrome skos:exactMatch mesh:C567385 semapv:UnspecifiedMatching MONDO:0012831 inflammatory bowel disease 13 skos:exactMatch DOID:0110893 inflammatory bowel disease 13 semapv:UnspecifiedMatching MONDO:0012831 inflammatory bowel disease 13 skos:exactMatch OMIM:612244 inflammatory bowel disease 13 semapv:UnspecifiedMatching MONDO:0012831 inflammatory bowel disease 13 skos:exactMatch UMLS:C2677101 semapv:UnspecifiedMatching MONDO:0012831 inflammatory bowel disease 13 skos:exactMatch mesh:C567384 semapv:UnspecifiedMatching MONDO:0012832 inflammatory bowel disease 14 skos:exactMatch DOID:0110895 inflammatory bowel disease 14 semapv:UnspecifiedMatching MONDO:0012832 inflammatory bowel disease 14 skos:exactMatch OMIM:612245 inflammatory bowel disease 14 semapv:UnspecifiedMatching MONDO:0012832 inflammatory bowel disease 14 skos:exactMatch UMLS:C2677100 semapv:UnspecifiedMatching MONDO:0012832 inflammatory bowel disease 14 skos:exactMatch mesh:C567383 semapv:UnspecifiedMatching MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome semapv:UnspecifiedMatching MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch NCIT:C38145 Chronic Allograft Nephropathy semapv:UnspecifiedMatching MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch OMIM:612247 crouzon syndrome with acanthosis nigricans semapv:UnspecifiedMatching MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome semapv:UnspecifiedMatching MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch SCTID:702361006 semapv:UnspecifiedMatching MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch mesh:C567382 semapv:UnspecifiedMatching MONDO:0012834 systemic lupus erythematosus, susceptibility to, 10 skos:exactMatch OMIM:612251 systemic lupus erythematosus, susceptibility to, 10 semapv:UnspecifiedMatching MONDO:0012835 systemic lupus erythematosus, susceptibility to, 11 skos:exactMatch OMIM:612253 systemic lupus erythematosus, susceptibility to, 11 semapv:UnspecifiedMatching MONDO:0012836 systemic lupus erythematosus, susceptibility to, 12 skos:exactMatch OMIM:612254 systemic lupus erythematosus, susceptibility to, 12 semapv:UnspecifiedMatching MONDO:0012837 inflammatory bowel disease 15 skos:exactMatch DOID:0110897 inflammatory bowel disease 15 semapv:UnspecifiedMatching MONDO:0012837 inflammatory bowel disease 15 skos:exactMatch OMIM:612255 inflammatory bowel disease 15 semapv:UnspecifiedMatching MONDO:0012837 inflammatory bowel disease 15 skos:exactMatch UMLS:C2677094 semapv:UnspecifiedMatching MONDO:0012837 inflammatory bowel disease 15 skos:exactMatch mesh:C567381 semapv:UnspecifiedMatching MONDO:0012838 inflammatory bowel disease 16 skos:exactMatch DOID:0110896 inflammatory bowel disease 16 semapv:UnspecifiedMatching MONDO:0012838 inflammatory bowel disease 16 skos:exactMatch OMIM:612259 inflammatory bowel disease 16 semapv:UnspecifiedMatching MONDO:0012838 inflammatory bowel disease 16 skos:exactMatch UMLS:C2677093 semapv:UnspecifiedMatching MONDO:0012838 inflammatory bowel disease 16 skos:exactMatch mesh:C567380 semapv:UnspecifiedMatching MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:exactMatch OMIM:612260 immunodeficiency 68 semapv:UnspecifiedMatching MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:exactMatch Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency semapv:UnspecifiedMatching MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:exactMatch UMLS:C2677092 semapv:UnspecifiedMatching MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:exactMatch mesh:C567379 semapv:UnspecifiedMatching MONDO:0012840 inflammatory bowel disease 17 skos:exactMatch DOID:0110883 inflammatory bowel disease 17 semapv:UnspecifiedMatching MONDO:0012840 inflammatory bowel disease 17 skos:exactMatch OMIM:612261 inflammatory bowel disease 17 semapv:UnspecifiedMatching MONDO:0012840 inflammatory bowel disease 17 skos:exactMatch UMLS:C2677091 semapv:UnspecifiedMatching MONDO:0012840 inflammatory bowel disease 17 skos:exactMatch mesh:C567378 semapv:UnspecifiedMatching MONDO:0012841 inflammatory bowel disease 18 skos:exactMatch DOID:0110888 inflammatory bowel disease 18 semapv:UnspecifiedMatching MONDO:0012841 inflammatory bowel disease 18 skos:exactMatch OMIM:612262 inflammatory bowel disease 18 semapv:UnspecifiedMatching MONDO:0012841 inflammatory bowel disease 18 skos:exactMatch UMLS:C2677090 semapv:UnspecifiedMatching MONDO:0012841 inflammatory bowel disease 18 skos:exactMatch mesh:C567377 semapv:UnspecifiedMatching MONDO:0012842 melanoma, cutaneous malignant, susceptibility to, 7 skos:exactMatch OMIM:612263 melanoma, cutaneous malignant, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012843 epilepsy, childhood absence, susceptibility to, 5 skos:exactMatch OMIM:612269 epilepsy, childhood absence, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012844 primary ciliary dyskinesia 8 skos:exactMatch DOID:0110616 primary ciliary dyskinesia 8 semapv:UnspecifiedMatching MONDO:0012844 primary ciliary dyskinesia 8 skos:exactMatch OMIM:612274 ciliary dyskinesia, primary, 8 semapv:UnspecifiedMatching MONDO:0012844 primary ciliary dyskinesia 8 skos:exactMatch UMLS:C2677085 semapv:UnspecifiedMatching MONDO:0012844 primary ciliary dyskinesia 8 skos:exactMatch mesh:C567373 semapv:UnspecifiedMatching MONDO:0012845 inflammatory bowel disease 19 skos:exactMatch DOID:0110890 inflammatory bowel disease 19 semapv:UnspecifiedMatching MONDO:0012845 inflammatory bowel disease 19 skos:exactMatch OMIM:612278 inflammatory bowel disease (crohn disease) 19 semapv:UnspecifiedMatching MONDO:0012845 inflammatory bowel disease 19 skos:exactMatch UMLS:C2677079 semapv:UnspecifiedMatching MONDO:0012845 inflammatory bowel disease 19 skos:exactMatch mesh:C567372 semapv:UnspecifiedMatching MONDO:0012846 generalized epilepsy with febrile seizures plus, type 6 skos:exactMatch DOID:0111300 generalized epilepsy with febrile seizures plus 6 semapv:UnspecifiedMatching MONDO:0012846 generalized epilepsy with febrile seizures plus, type 6 skos:exactMatch OMIM:612279 generalized epilepsy with febrile seizures plus, iia 6 semapv:UnspecifiedMatching MONDO:0012846 generalized epilepsy with febrile seizures plus, type 6 skos:exactMatch UMLS:C2677078 semapv:UnspecifiedMatching MONDO:0012846 generalized epilepsy with febrile seizures plus, type 6 skos:exactMatch mesh:C567371 semapv:UnspecifiedMatching MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:exactMatch DOID:0060715 autosomal recessive congenital ichthyosis 6 semapv:UnspecifiedMatching MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:exactMatch OMIM:612281 ichthyosis, congenital, autosomal recessive 6 semapv:UnspecifiedMatching MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:exactMatch UMLS:C2677065 semapv:UnspecifiedMatching MONDO:0012848 Meckel syndrome, type 6 skos:exactMatch DOID:0070120 Meckel syndrome 6 semapv:UnspecifiedMatching MONDO:0012848 Meckel syndrome, type 6 skos:exactMatch OMIM:612284 meckel syndrome, iia 6 semapv:UnspecifiedMatching MONDO:0012848 Meckel syndrome, type 6 skos:exactMatch UMLS:C2676790 semapv:UnspecifiedMatching MONDO:0012848 Meckel syndrome, type 6 skos:exactMatch mesh:C567365 semapv:UnspecifiedMatching MONDO:0012849 Joubert syndrome 9 skos:exactMatch DOID:0111004 Joubert syndrome 9 semapv:UnspecifiedMatching MONDO:0012849 Joubert syndrome 9 skos:exactMatch NCIT:C181002 Joubert Syndrome 9 semapv:UnspecifiedMatching MONDO:0012849 Joubert syndrome 9 skos:exactMatch OMIM:612285 joubert syndrome 9 semapv:UnspecifiedMatching MONDO:0012849 Joubert syndrome 9 skos:exactMatch UMLS:C2676788 semapv:UnspecifiedMatching MONDO:0012849 Joubert syndrome 9 skos:exactMatch mesh:C567364 semapv:UnspecifiedMatching MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:exactMatch DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 semapv:UnspecifiedMatching MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:exactMatch OMIM:612286 nephrolithiasis/osteoporosis, hypophosphatemic, 1 semapv:UnspecifiedMatching MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:exactMatch UMLS:C2676786 semapv:UnspecifiedMatching MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:exactMatch mesh:C567363 semapv:UnspecifiedMatching MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:exactMatch DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 semapv:UnspecifiedMatching MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:exactMatch OMIM:612287 nephrolithiasis/osteoporosis, hypophosphatemic, 2 semapv:UnspecifiedMatching MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:exactMatch UMLS:C2676782 semapv:UnspecifiedMatching MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:exactMatch mesh:C567362 semapv:UnspecifiedMatching MONDO:0012852 inflammatory bowel disease 20 skos:exactMatch DOID:0110898 inflammatory bowel disease 20 semapv:UnspecifiedMatching MONDO:0012852 inflammatory bowel disease 20 skos:exactMatch OMIM:612288 inflammatory bowel disease 20 semapv:UnspecifiedMatching MONDO:0012852 inflammatory bowel disease 20 skos:exactMatch UMLS:C2676781 semapv:UnspecifiedMatching MONDO:0012852 inflammatory bowel disease 20 skos:exactMatch mesh:C567361 semapv:UnspecifiedMatching MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch OMIM:612289 fontaine progeroid syndrome semapv:UnspecifiedMatching MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:UnspecifiedMatching MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:UnspecifiedMatching MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch SCTID:205800003 semapv:UnspecifiedMatching MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch UMLS:C2676780 semapv:UnspecifiedMatching MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch mesh:C537290 semapv:UnspecifiedMatching MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:exactMatch OMIM:612290 microtia, hearing impairment, and cleft palate semapv:UnspecifiedMatching MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:exactMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:UnspecifiedMatching MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:exactMatch UMLS:C2676772 semapv:UnspecifiedMatching MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:exactMatch mesh:C567359 semapv:UnspecifiedMatching MONDO:0012855 Joubert syndrome 8 skos:exactMatch DOID:0111003 Joubert syndrome 8 semapv:UnspecifiedMatching MONDO:0012855 Joubert syndrome 8 skos:exactMatch OMIM:612291 joubert syndrome 8 semapv:UnspecifiedMatching MONDO:0012855 Joubert syndrome 8 skos:exactMatch UMLS:C2676771 semapv:UnspecifiedMatching MONDO:0012855 Joubert syndrome 8 skos:exactMatch mesh:C567358 semapv:UnspecifiedMatching MONDO:0012856 Birk-Barel syndrome skos:exactMatch DOID:0050675 Birk-Barel syndrome semapv:UnspecifiedMatching MONDO:0012856 Birk-Barel syndrome skos:exactMatch OMIM:612292 birk-barel syndrome semapv:UnspecifiedMatching MONDO:0012856 Birk-Barel syndrome skos:exactMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:UnspecifiedMatching MONDO:0012856 Birk-Barel syndrome skos:exactMatch SCTID:764861005 semapv:UnspecifiedMatching MONDO:0012856 Birk-Barel syndrome skos:exactMatch UMLS:C2676770 semapv:UnspecifiedMatching MONDO:0012856 Birk-Barel syndrome skos:exactMatch mesh:C567357 semapv:UnspecifiedMatching MONDO:0012857 porokeratosis 5, disseminated superficial actinic type skos:exactMatch OMIM:612293 porokeratosis 5, disseminated superficial actinic iia semapv:UnspecifiedMatching MONDO:0012857 porokeratosis 5, disseminated superficial actinic type skos:exactMatch UMLS:C2676769 semapv:UnspecifiedMatching MONDO:0012857 porokeratosis 5, disseminated superficial actinic type skos:exactMatch mesh:C567356 semapv:UnspecifiedMatching MONDO:0012858 primary CD59 deficiency skos:exactMatch OMIM:612300 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy semapv:UnspecifiedMatching MONDO:0012858 primary CD59 deficiency skos:exactMatch Orphanet:169464 Primary CD59 deficiency semapv:UnspecifiedMatching MONDO:0012858 primary CD59 deficiency skos:exactMatch UMLS:C2676767 semapv:UnspecifiedMatching MONDO:0012858 primary CD59 deficiency skos:exactMatch mesh:C567355 semapv:UnspecifiedMatching MONDO:0012859 autosomal recessive osteopetrosis 7 skos:exactMatch DOID:0110946 autosomal recessive osteopetrosis 7 semapv:UnspecifiedMatching MONDO:0012859 autosomal recessive osteopetrosis 7 skos:exactMatch OMIM:612301 osteopetrosis, autosomal recessive 7 semapv:UnspecifiedMatching MONDO:0012859 autosomal recessive osteopetrosis 7 skos:exactMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:UnspecifiedMatching MONDO:0012859 autosomal recessive osteopetrosis 7 skos:exactMatch UMLS:C2676766 semapv:UnspecifiedMatching MONDO:0012859 autosomal recessive osteopetrosis 7 skos:exactMatch mesh:C567354 semapv:UnspecifiedMatching MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:exactMatch DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency semapv:UnspecifiedMatching MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:exactMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:UnspecifiedMatching MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:exactMatch UMLS:C2676759 semapv:UnspecifiedMatching MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:exactMatch mesh:C567353 semapv:UnspecifiedMatching MONDO:0012861 premature ovarian failure 6 skos:exactMatch DOID:0080863 primary ovarian insufficiency 6 semapv:UnspecifiedMatching MONDO:0012861 premature ovarian failure 6 skos:exactMatch OMIM:612310 premature ovarian failure 6 semapv:UnspecifiedMatching MONDO:0012861 premature ovarian failure 6 skos:exactMatch UMLS:C2676742 semapv:UnspecifiedMatching MONDO:0012861 premature ovarian failure 6 skos:exactMatch mesh:C567351 semapv:UnspecifiedMatching MONDO:0012862 attention deficit-hyperactivity disorder, susceptibility to, 5 skos:exactMatch OMIM:612311 attention deficit-hyperactivity disorder, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012863 attention deficit-hyperactivity disorder, susceptibility to, 6 skos:exactMatch OMIM:612312 attention deficit-hyperactivity disorder, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch DOID:0060428 SATB2-associated syndrome semapv:UnspecifiedMatching MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch OMIM:612313 glass syndrome semapv:UnspecifiedMatching MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant semapv:UnspecifiedMatching MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch SCTID:719659003 semapv:UnspecifiedMatching MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch UMLS:C2676739 semapv:UnspecifiedMatching MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch mesh:C567350 semapv:UnspecifiedMatching MONDO:0012865 Pseudofolliculitis barbae skos:exactMatch ICD10CM:L73.1 Pseudofolliculitis barbae semapv:UnspecifiedMatching MONDO:0012865 Pseudofolliculitis barbae skos:exactMatch OMIM:612318 pseudofolliculitis barbae semapv:UnspecifiedMatching MONDO:0012865 Pseudofolliculitis barbae skos:exactMatch UMLS:C0549150 semapv:UnspecifiedMatching MONDO:0012865 Pseudofolliculitis barbae skos:exactMatch mesh:C563016 semapv:UnspecifiedMatching MONDO:0012866 hereditary spastic paraplegia 35 skos:exactMatch DOID:0110786 hereditary spastic paraplegia 35 semapv:UnspecifiedMatching MONDO:0012866 hereditary spastic paraplegia 35 skos:exactMatch OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration semapv:UnspecifiedMatching MONDO:0012866 hereditary spastic paraplegia 35 skos:exactMatch Orphanet:171629 Autosomal recessive spastic paraplegia type 35 semapv:UnspecifiedMatching MONDO:0012866 hereditary spastic paraplegia 35 skos:exactMatch SCTID:764688002 semapv:UnspecifiedMatching MONDO:0012866 hereditary spastic paraplegia 35 skos:exactMatch UMLS:C3496228 semapv:UnspecifiedMatching MONDO:0012866 hereditary spastic paraplegia 35 skos:exactMatch mesh:C567311 semapv:UnspecifiedMatching MONDO:0012867 hereditary spastic paraplegia 38 skos:exactMatch DOID:0110789 hereditary spastic paraplegia 38 semapv:UnspecifiedMatching MONDO:0012867 hereditary spastic paraplegia 38 skos:exactMatch OMIM:612335 spastic paraplegia 38, autosomal dominant semapv:UnspecifiedMatching MONDO:0012867 hereditary spastic paraplegia 38 skos:exactMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:UnspecifiedMatching MONDO:0012867 hereditary spastic paraplegia 38 skos:exactMatch UMLS:C2676732 semapv:UnspecifiedMatching MONDO:0012867 hereditary spastic paraplegia 38 skos:exactMatch mesh:C567349 semapv:UnspecifiedMatching MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:exactMatch DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency semapv:UnspecifiedMatching MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:exactMatch OMIM:612336 thrombophilia due to protein s deficiency, autosomal dominant semapv:UnspecifiedMatching MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:exactMatch Orphanet:26349 Protein S acquired deficiency semapv:UnspecifiedMatching MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:exactMatch UMLS:C3278211 semapv:UnspecifiedMatching MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:exactMatch mesh:C567077 semapv:UnspecifiedMatching MONDO:0012869 intellectual disability, autosomal dominant 22 skos:exactMatch DOID:0070052 autosomal dominant intellectual developmental disorder 22 semapv:UnspecifiedMatching MONDO:0012869 intellectual disability, autosomal dominant 22 skos:exactMatch OMIM:612337 intellectual developmental disorder, autosomal dominant 22 semapv:UnspecifiedMatching MONDO:0012869 intellectual disability, autosomal dominant 22 skos:exactMatch mesh:C567346 semapv:UnspecifiedMatching MONDO:0012870 chromosome 2q31.2 deletion syndrome skos:exactMatch DOID:0060416 chromosome 2q31.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0012870 chromosome 2q31.2 deletion syndrome skos:exactMatch OMIM:612345 chromosome 2q31.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0012870 chromosome 2q31.2 deletion syndrome skos:exactMatch UMLS:C2676724 semapv:UnspecifiedMatching MONDO:0012870 chromosome 2q31.2 deletion syndrome skos:exactMatch mesh:C567344 semapv:UnspecifiedMatching MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:exactMatch OMIM:612347 jervell and lange-nielsen syndrome 2 semapv:UnspecifiedMatching MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:exactMatch mesh:C567343 semapv:UnspecifiedMatching MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:exactMatch DOID:0111906 thrombophilia due to decreased release of PLAT semapv:UnspecifiedMatching MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:exactMatch OMIM:612348 thrombophilia, familial, due to decreased release of tissue plasminogen activator semapv:UnspecifiedMatching MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:exactMatch mesh:C567341 semapv:UnspecifiedMatching MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:exactMatch DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 semapv:UnspecifiedMatching MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:exactMatch OMIM:612350 ehlers-danlos syndrome, spondylodysplastic type, 3 semapv:UnspecifiedMatching MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:exactMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:UnspecifiedMatching MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:exactMatch UMLS:C2676510 semapv:UnspecifiedMatching MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:exactMatch mesh:C567340 semapv:UnspecifiedMatching MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:exactMatch OMIM:612353 porokeratosis 6, multiple types semapv:UnspecifiedMatching MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:exactMatch UMLS:C2676508 semapv:UnspecifiedMatching MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:exactMatch mesh:C567339 semapv:UnspecifiedMatching MONDO:0012875 inflammatory bowel disease 21 skos:exactMatch DOID:0110906 inflammatory bowel disease 21 semapv:UnspecifiedMatching MONDO:0012875 inflammatory bowel disease 21 skos:exactMatch OMIM:612354 inflammatory bowel disease 21 semapv:UnspecifiedMatching MONDO:0012875 inflammatory bowel disease 21 skos:exactMatch UMLS:C2676507 semapv:UnspecifiedMatching MONDO:0012875 inflammatory bowel disease 21 skos:exactMatch mesh:C567338 semapv:UnspecifiedMatching MONDO:0012876 heparin cofactor 2 deficiency skos:exactMatch DOID:0111901 heparin cofactor II deficiency semapv:UnspecifiedMatching MONDO:0012876 heparin cofactor 2 deficiency skos:exactMatch OMIM:612356 heparin cofactor 2 deficiency semapv:UnspecifiedMatching MONDO:0012876 heparin cofactor 2 deficiency skos:exactMatch SCTID:234468009 semapv:UnspecifiedMatching MONDO:0012876 heparin cofactor 2 deficiency skos:exactMatch UMLS:C0398626 semapv:UnspecifiedMatching MONDO:0012876 heparin cofactor 2 deficiency skos:exactMatch mesh:C562865 semapv:UnspecifiedMatching MONDO:0012877 major affective disorder 8 skos:exactMatch OMIM:612357 major affective disorder 8 semapv:UnspecifiedMatching MONDO:0012877 major affective disorder 8 skos:exactMatch mesh:C567530 semapv:UnspecifiedMatching MONDO:0012878 Cowden syndrome 2 skos:exactMatch mesh:C567337 semapv:UnspecifiedMatching MONDO:0012879 schizophrenia 14 skos:exactMatch DOID:0070090 schizophrenia 14 semapv:UnspecifiedMatching MONDO:0012879 schizophrenia 14 skos:exactMatch OMIM:612361 schizophrenia 14 semapv:UnspecifiedMatching MONDO:0012879 schizophrenia 14 skos:exactMatch UMLS:C2677614 semapv:UnspecifiedMatching MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:exactMatch DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia semapv:UnspecifiedMatching MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:exactMatch OMIM:612370 hypogonadotropic hypogonadism 5 with or without anosmia semapv:UnspecifiedMatching MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:exactMatch UMLS:C3552553 semapv:UnspecifiedMatching MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:exactMatch mesh:C567220 semapv:UnspecifiedMatching MONDO:0012881 major affective disorder 7 skos:exactMatch OMIM:612371 major affective disorder 7 semapv:UnspecifiedMatching MONDO:0012881 major affective disorder 7 skos:exactMatch mesh:C567529 semapv:UnspecifiedMatching MONDO:0012882 major affective disorder 9 skos:exactMatch OMIM:612372 major affective disorder 9 semapv:UnspecifiedMatching MONDO:0012882 major affective disorder 9 skos:exactMatch mesh:C567531 semapv:UnspecifiedMatching MONDO:0012883 acute promyelocytic leukemia skos:exactMatch DOID:0060318 acute promyelocytic leukemia semapv:UnspecifiedMatching MONDO:0012883 acute promyelocytic leukemia skos:exactMatch DOID:0081081 acute promyelocytic leukemia with PML-RARA semapv:UnspecifiedMatching MONDO:0012883 acute promyelocytic leukemia skos:exactMatch NCIT:C3182 Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA semapv:UnspecifiedMatching MONDO:0012883 acute promyelocytic leukemia skos:exactMatch OMIM:612376 acute promyelocytic leukemia semapv:UnspecifiedMatching MONDO:0012883 acute promyelocytic leukemia skos:exactMatch Orphanet:520 Acute promyelocytic leukemia semapv:UnspecifiedMatching MONDO:0012883 acute promyelocytic leukemia skos:exactMatch SCTID:110004001 semapv:UnspecifiedMatching MONDO:0012883 acute promyelocytic leukemia skos:exactMatch UMLS:C0023487 semapv:UnspecifiedMatching MONDO:0012883 acute promyelocytic leukemia skos:exactMatch mesh:D015473 semapv:UnspecifiedMatching MONDO:0012884 systemic lupus erythematosus, susceptibility to, 13 skos:exactMatch OMIM:612378 systemic lupus erythematosus, susceptibility to, 13 semapv:UnspecifiedMatching MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:exactMatch DOID:0080568 congenital disorder of glycosylation Iq semapv:UnspecifiedMatching MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:exactMatch OMIM:612379 congenital disorder of glycosylation, iia iq semapv:UnspecifiedMatching MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:exactMatch Orphanet:324737 SRD5A3-CDG semapv:UnspecifiedMatching MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:exactMatch SCTID:733601006 semapv:UnspecifiedMatching MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:exactMatch UMLS:C4317224 semapv:UnspecifiedMatching MONDO:0012886 inflammatory bowel disease 22 skos:exactMatch DOID:0110905 inflammatory bowel disease 22 semapv:UnspecifiedMatching MONDO:0012886 inflammatory bowel disease 22 skos:exactMatch OMIM:612380 inflammatory bowel disease 22 semapv:UnspecifiedMatching MONDO:0012886 inflammatory bowel disease 22 skos:exactMatch UMLS:C2676485 semapv:UnspecifiedMatching MONDO:0012886 inflammatory bowel disease 22 skos:exactMatch mesh:C567327 semapv:UnspecifiedMatching MONDO:0012887 inflammatory bowel disease 23 skos:exactMatch DOID:0110884 inflammatory bowel disease 23 semapv:UnspecifiedMatching MONDO:0012887 inflammatory bowel disease 23 skos:exactMatch OMIM:612381 inflammatory bowel disease 23 semapv:UnspecifiedMatching MONDO:0012887 inflammatory bowel disease 23 skos:exactMatch UMLS:C2676484 semapv:UnspecifiedMatching MONDO:0012887 inflammatory bowel disease 23 skos:exactMatch mesh:C567326 semapv:UnspecifiedMatching MONDO:0012888 sarcoidosis, susceptibility to, 2 skos:exactMatch OMIM:612387 sarcoidosis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012889 sarcoidosis, susceptibility to, 3 skos:exactMatch OMIM:612388 sarcoidosis, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012890 pontocerebellar hypoplasia type 2B skos:exactMatch DOID:0060268 pontocerebellar hypoplasia type 2B semapv:UnspecifiedMatching MONDO:0012890 pontocerebellar hypoplasia type 2B skos:exactMatch OMIM:612389 pontocerebellar hypoplasia, iia 2b semapv:UnspecifiedMatching MONDO:0012890 pontocerebellar hypoplasia type 2B skos:exactMatch UMLS:C2676466 semapv:UnspecifiedMatching MONDO:0012890 pontocerebellar hypoplasia type 2B skos:exactMatch mesh:C567325 semapv:UnspecifiedMatching MONDO:0012891 pontocerebellar hypoplasia type 2C skos:exactMatch DOID:0060269 pontocerebellar hypoplasia type 2C semapv:UnspecifiedMatching MONDO:0012891 pontocerebellar hypoplasia type 2C skos:exactMatch OMIM:612390 pontocerebellar hypoplasia, iia 2c semapv:UnspecifiedMatching MONDO:0012891 pontocerebellar hypoplasia type 2C skos:exactMatch UMLS:C2676465 semapv:UnspecifiedMatching MONDO:0012891 pontocerebellar hypoplasia type 2C skos:exactMatch mesh:C567324 semapv:UnspecifiedMatching MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:exactMatch OMIM:612394 bone fragility with contractures, arterial rupture, and deafness semapv:UnspecifiedMatching MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:exactMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:UnspecifiedMatching MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:exactMatch SCTID:763318007 semapv:UnspecifiedMatching MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:exactMatch UMLS:C2676285 semapv:UnspecifiedMatching MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:exactMatch mesh:C567320 semapv:UnspecifiedMatching MONDO:0012893 osteoarthritis susceptibility 5 skos:exactMatch OMIM:612400 osteoarthritis susceptibility 5 semapv:UnspecifiedMatching MONDO:0012893 osteoarthritis susceptibility 5 skos:exactMatch SCTID:239872002 semapv:UnspecifiedMatching MONDO:0012893 osteoarthritis susceptibility 5 skos:exactMatch UMLS:C4759728 semapv:UnspecifiedMatching MONDO:0012894 osteoarthritis susceptibility 6 skos:exactMatch OMIM:612401 osteoarthritis susceptibility 6 semapv:UnspecifiedMatching MONDO:0012894 osteoarthritis susceptibility 6 skos:exactMatch SCTID:239873007 semapv:UnspecifiedMatching MONDO:0012895 torsion dystonia 17 skos:exactMatch DOID:0090042 torsion dystonia 17 semapv:UnspecifiedMatching MONDO:0012895 torsion dystonia 17 skos:exactMatch OMIM:612406 dystonia 17, torsion, autosomal recessive semapv:UnspecifiedMatching MONDO:0012895 torsion dystonia 17 skos:exactMatch Orphanet:370103 Primary dystonia, DYT17 type semapv:UnspecifiedMatching MONDO:0012895 torsion dystonia 17 skos:exactMatch UMLS:C2676281 semapv:UnspecifiedMatching MONDO:0012895 torsion dystonia 17 skos:exactMatch mesh:C567319 semapv:UnspecifiedMatching MONDO:0012896 psoriasis 10, susceptibility to skos:exactMatch DOID:0111289 psoriasis 10 semapv:UnspecifiedMatching MONDO:0012896 psoriasis 10, susceptibility to skos:exactMatch OMIM:612410 psoriasis 10, susceptibility to semapv:UnspecifiedMatching MONDO:0012897 congenital factor XI deficiency skos:exactMatch DOID:2229 factor XI deficiency semapv:UnspecifiedMatching MONDO:0012897 congenital factor XI deficiency skos:exactMatch NCIT:C84705 Hereditary Factor XI Deficiency semapv:UnspecifiedMatching MONDO:0012897 congenital factor XI deficiency skos:exactMatch OMIM:612416 factor 11 deficiency semapv:UnspecifiedMatching MONDO:0012897 congenital factor XI deficiency skos:exactMatch Orphanet:329 Congenital factor XI deficiency semapv:UnspecifiedMatching MONDO:0012897 congenital factor XI deficiency skos:exactMatch SCTID:49762007 semapv:UnspecifiedMatching MONDO:0012897 congenital factor XI deficiency skos:exactMatch UMLS:C0015523 semapv:UnspecifiedMatching MONDO:0012898 narcolepsy 4, susceptibility to skos:exactMatch OMIM:612417 narcolepsy 4, susceptibility to semapv:UnspecifiedMatching MONDO:0012898 narcolepsy 4, susceptibility to skos:exactMatch UMLS:C2676275 semapv:UnspecifiedMatching MONDO:0012899 alopecia, androgenetic, 3 skos:exactMatch OMIM:612421 alopecia, androgenetic, 3 semapv:UnspecifiedMatching MONDO:0012899 alopecia, androgenetic, 3 skos:exactMatch UMLS:C2676272 semapv:UnspecifiedMatching MONDO:0012899 alopecia, androgenetic, 3 skos:exactMatch mesh:C567317 semapv:UnspecifiedMatching MONDO:0012900 cardiomyopathy, familial restrictive, 3 skos:exactMatch DOID:0111427 restrictive cardiomyopathy 3 semapv:UnspecifiedMatching MONDO:0012900 cardiomyopathy, familial restrictive, 3 skos:exactMatch OMIM:612422 cardiomyopathy, familial restrictive, 3 semapv:UnspecifiedMatching MONDO:0012900 cardiomyopathy, familial restrictive, 3 skos:exactMatch UMLS:C2676271 semapv:UnspecifiedMatching MONDO:0012900 cardiomyopathy, familial restrictive, 3 skos:exactMatch mesh:C567316 semapv:UnspecifiedMatching MONDO:0012901 inherited prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:UnspecifiedMatching MONDO:0012901 inherited prekallikrein deficiency skos:exactMatch Orphanet:749 Congenital prekallikrein deficiency semapv:UnspecifiedMatching MONDO:0012901 inherited prekallikrein deficiency skos:exactMatch mesh:C562725 semapv:UnspecifiedMatching MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:exactMatch DOID:0110556 autosomal dominant nonsyndromic deafness 27 semapv:UnspecifiedMatching MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:exactMatch OMIM:612431 deafness, autosomal dominant 27 semapv:UnspecifiedMatching MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:exactMatch DOID:0110502 autosomal recessive nonsyndromic deafness 45 semapv:UnspecifiedMatching MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:exactMatch OMIM:612433 deafness, autosomal recessive 45 semapv:UnspecifiedMatching MONDO:0012904 epilepsy, progressive myoclonic, 1B skos:exactMatch DOID:0111448 progressive myoclonus epilepsy 1B semapv:UnspecifiedMatching MONDO:0012904 epilepsy, progressive myoclonic, 1B skos:exactMatch OMIM:612437 epilepsy, progressive myoclonic, 1b semapv:UnspecifiedMatching MONDO:0012904 epilepsy, progressive myoclonic, 1B skos:exactMatch SCTID:702326000 semapv:UnspecifiedMatching MONDO:0012904 epilepsy, progressive myoclonic, 1B skos:exactMatch UMLS:C2676254 semapv:UnspecifiedMatching MONDO:0012904 epilepsy, progressive myoclonic, 1B skos:exactMatch mesh:C580388 semapv:UnspecifiedMatching MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch DOID:0060798 hypomyelinating leukodystrophy 6 semapv:UnspecifiedMatching MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch OMIM:612438 leukodystrophy, hypomyelinating, 6 semapv:UnspecifiedMatching MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:UnspecifiedMatching MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch UMLS:C2676244 semapv:UnspecifiedMatching MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch mesh:C567314 semapv:UnspecifiedMatching MONDO:0012906 primary ciliary dyskinesia 9 skos:exactMatch DOID:0110622 primary ciliary dyskinesia 9 semapv:UnspecifiedMatching MONDO:0012906 primary ciliary dyskinesia 9 skos:exactMatch OMIM:612444 ciliary dyskinesia, primary, 9 semapv:UnspecifiedMatching MONDO:0012906 primary ciliary dyskinesia 9 skos:exactMatch UMLS:C2676235 semapv:UnspecifiedMatching MONDO:0012906 primary ciliary dyskinesia 9 skos:exactMatch mesh:C567310 semapv:UnspecifiedMatching MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:exactMatch OMIM:612445 scoliosis, arachnodactyly, and blindness semapv:UnspecifiedMatching MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:exactMatch Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome semapv:UnspecifiedMatching MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:exactMatch SCTID:717920004 semapv:UnspecifiedMatching MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:exactMatch UMLS:C2676234 semapv:UnspecifiedMatching MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:exactMatch mesh:C567309 semapv:UnspecifiedMatching MONDO:0012908 complement component 6 deficiency skos:exactMatch DOID:0060299 complement component 6 deficiency semapv:UnspecifiedMatching MONDO:0012908 complement component 6 deficiency skos:exactMatch OMIM:612446 complement component 6 deficiency semapv:UnspecifiedMatching MONDO:0012908 complement component 6 deficiency skos:exactMatch UMLS:C2676232 semapv:UnspecifiedMatching MONDO:0012909 skeletal defects, genital hypoplasia, and intellectual disability skos:exactMatch OMIM:612447 skeletal defects, genital hypoplasia, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0012909 skeletal defects, genital hypoplasia, and intellectual disability skos:exactMatch UMLS:C2676231 semapv:UnspecifiedMatching MONDO:0012909 skeletal defects, genital hypoplasia, and intellectual disability skos:exactMatch mesh:C567306 semapv:UnspecifiedMatching MONDO:0012910 age-related hearing impairment 1 skos:exactMatch OMIM:612448 age-related hearing impairment 1 semapv:UnspecifiedMatching MONDO:0012910 age-related hearing impairment 1 skos:exactMatch UMLS:C2676230 semapv:UnspecifiedMatching MONDO:0012910 age-related hearing impairment 1 skos:exactMatch mesh:C567305 semapv:UnspecifiedMatching MONDO:0012911 pseudohypoparathyroidism type 1C skos:exactMatch OMIM:612462 pseudohypoparathyroidism, iia 1c semapv:UnspecifiedMatching MONDO:0012911 pseudohypoparathyroidism type 1C skos:exactMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:UnspecifiedMatching MONDO:0012911 pseudohypoparathyroidism type 1C skos:exactMatch SCTID:717792007 semapv:UnspecifiedMatching MONDO:0012911 pseudohypoparathyroidism type 1C skos:exactMatch UMLS:C2932716 semapv:UnspecifiedMatching MONDO:0012911 pseudohypoparathyroidism type 1C skos:exactMatch mesh:C548076 semapv:UnspecifiedMatching MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch DOID:4183 pseudopseudohypoparathyroidism semapv:UnspecifiedMatching MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance semapv:UnspecifiedMatching MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch OMIM:612463 pseudopseudohypoparathyroidism semapv:UnspecifiedMatching MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:UnspecifiedMatching MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch SCTID:237659007 semapv:UnspecifiedMatching MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch UMLS:C0033835 semapv:UnspecifiedMatching MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch mesh:D011556 semapv:UnspecifiedMatching MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:exactMatch NCIT:C122804 Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation-Obesity Syndrome semapv:UnspecifiedMatching MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:exactMatch OMIM:612469 wagro syndrome semapv:UnspecifiedMatching MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:exactMatch UMLS:C2675904 semapv:UnspecifiedMatching MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:exactMatch mesh:C567292 semapv:UnspecifiedMatching MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:exactMatch DOID:0060411 chromosome 1q21.1 deletion syndrome semapv:UnspecifiedMatching MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:exactMatch OMIM:612474 chromosome 1q21.1 deletion syndrome, 1.35-mb semapv:UnspecifiedMatching MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:exactMatch Orphanet:250989 1q21.1 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:exactMatch SCTID:699305004 semapv:UnspecifiedMatching MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:exactMatch DOID:0060435 chromosome 1q21.1 duplication syndrome semapv:UnspecifiedMatching MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:exactMatch OMIM:612475 chromosome 1q21.1 duplication syndrome semapv:UnspecifiedMatching MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:exactMatch Orphanet:250994 1q21.1 microduplication syndrome semapv:UnspecifiedMatching MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:exactMatch UMLS:C2675891 semapv:UnspecifiedMatching MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:exactMatch mesh:C567290 semapv:UnspecifiedMatching MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch DOID:0060415 chromosome 2p16.1-p15 deletion syndrome semapv:UnspecifiedMatching MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch OMIM:612513 chromosome 2p16.1-p15 deletion syndrome semapv:UnspecifiedMatching MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch Orphanet:261349 2p15p16.1 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch SCTID:719651000 semapv:UnspecifiedMatching MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch UMLS:C2675875 semapv:UnspecifiedMatching MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch mesh:C567289 semapv:UnspecifiedMatching MONDO:0012917 specific language impairment 4 skos:exactMatch OMIM:612514 specific language impairment 4 semapv:UnspecifiedMatching MONDO:0012917 specific language impairment 4 skos:exactMatch UMLS:C2675874 semapv:UnspecifiedMatching MONDO:0012917 specific language impairment 4 skos:exactMatch mesh:C567288 semapv:UnspecifiedMatching MONDO:0012918 primary ciliary dyskinesia 10 skos:exactMatch DOID:0110612 primary ciliary dyskinesia 10 semapv:UnspecifiedMatching MONDO:0012918 primary ciliary dyskinesia 10 skos:exactMatch OMIM:612518 ciliary dyskinesia, primary, 10 semapv:UnspecifiedMatching MONDO:0012918 primary ciliary dyskinesia 10 skos:exactMatch UMLS:C2675867 semapv:UnspecifiedMatching MONDO:0012918 primary ciliary dyskinesia 10 skos:exactMatch mesh:C567287 semapv:UnspecifiedMatching MONDO:0012919 type 1 diabetes mellitus 20 skos:exactMatch DOID:0110757 type 1 diabetes mellitus 20 semapv:UnspecifiedMatching MONDO:0012919 type 1 diabetes mellitus 20 skos:exactMatch OMIM:612520 iia 1 diabetes mellitus 20 semapv:UnspecifiedMatching MONDO:0012919 type 1 diabetes mellitus 20 skos:exactMatch UMLS:C2675866 semapv:UnspecifiedMatching MONDO:0012919 type 1 diabetes mellitus 20 skos:exactMatch mesh:C567286 semapv:UnspecifiedMatching MONDO:0012920 type 1 diabetes mellitus 21 skos:exactMatch DOID:0110758 type 1 diabetes mellitus 21 semapv:UnspecifiedMatching MONDO:0012920 type 1 diabetes mellitus 21 skos:exactMatch OMIM:612521 iia 1 diabetes mellitus 21 semapv:UnspecifiedMatching MONDO:0012920 type 1 diabetes mellitus 21 skos:exactMatch UMLS:C2675865 semapv:UnspecifiedMatching MONDO:0012920 type 1 diabetes mellitus 21 skos:exactMatch mesh:C567285 semapv:UnspecifiedMatching MONDO:0012921 type 1 diabetes mellitus 22 skos:exactMatch DOID:0110759 type 1 diabetes mellitus 22 semapv:UnspecifiedMatching MONDO:0012921 type 1 diabetes mellitus 22 skos:exactMatch OMIM:612522 iia 1 diabetes mellitus 22 semapv:UnspecifiedMatching MONDO:0012921 type 1 diabetes mellitus 22 skos:exactMatch UMLS:C2675864 semapv:UnspecifiedMatching MONDO:0012921 type 1 diabetes mellitus 22 skos:exactMatch mesh:C567284 semapv:UnspecifiedMatching MONDO:0012922 pyloric stenosis, infantile hypertrophic, 5 skos:exactMatch OMIM:612525 pyloric stenosis, infantile hypertrophic, 5 semapv:UnspecifiedMatching MONDO:0012922 pyloric stenosis, infantile hypertrophic, 5 skos:exactMatch UMLS:C2675862 semapv:UnspecifiedMatching MONDO:0012922 pyloric stenosis, infantile hypertrophic, 5 skos:exactMatch mesh:C567283 semapv:UnspecifiedMatching MONDO:0012923 congenital generalized lipodystrophy type 3 skos:exactMatch DOID:0111137 congenital generalized lipodystrophy type 3 semapv:UnspecifiedMatching MONDO:0012923 congenital generalized lipodystrophy type 3 skos:exactMatch OMIM:612526 lipodystrophy, congenital generalized, iia 3 semapv:UnspecifiedMatching MONDO:0012923 congenital generalized lipodystrophy type 3 skos:exactMatch UMLS:C2675861 semapv:UnspecifiedMatching MONDO:0012923 congenital generalized lipodystrophy type 3 skos:exactMatch mesh:C567282 semapv:UnspecifiedMatching MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch DOID:0111890 Diamond-Blackfan anemia 4 semapv:UnspecifiedMatching MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch NCIT:C176913 Diamond-Blackfan Anemia 4 semapv:UnspecifiedMatching MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch OMIM:612527 diamond-blackfan anemia 4 semapv:UnspecifiedMatching MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch UMLS:C2675860 semapv:UnspecifiedMatching MONDO:0012924 Diamond-Blackfan anemia 4 skos:exactMatch mesh:C567281 semapv:UnspecifiedMatching MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch DOID:0111883 Diamond-Blackfan anemia 5 semapv:UnspecifiedMatching MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch NCIT:C176914 Diamond-Blackfan Anemia 5 semapv:UnspecifiedMatching MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch OMIM:612528 diamond-blackfan anemia 5 semapv:UnspecifiedMatching MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch UMLS:C2675859 semapv:UnspecifiedMatching MONDO:0012925 Diamond-Blackfan anemia 5 skos:exactMatch mesh:C567280 semapv:UnspecifiedMatching MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:exactMatch DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 semapv:UnspecifiedMatching MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:exactMatch OMIM:612529 amelogenesis imperfecta, hypomaturation type, iia2 semapv:UnspecifiedMatching MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:exactMatch UMLS:C2675858 semapv:UnspecifiedMatching MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:exactMatch mesh:C567279 semapv:UnspecifiedMatching MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:exactMatch DOID:0060412 chromosome 1q41-q42 deletion syndrome semapv:UnspecifiedMatching MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:exactMatch OMIM:612530 chromosome 1q41-q42 deletion syndrome semapv:UnspecifiedMatching MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:exactMatch Orphanet:250999 1q41q42 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:exactMatch SCTID:716515000 semapv:UnspecifiedMatching MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:exactMatch UMLS:C2675857 semapv:UnspecifiedMatching MONDO:0012928 hereditary spastic paraplegia 42 skos:exactMatch DOID:0110794 hereditary spastic paraplegia 42 semapv:UnspecifiedMatching MONDO:0012928 hereditary spastic paraplegia 42 skos:exactMatch OMIM:612539 spastic paraplegia 42, autosomal dominant semapv:UnspecifiedMatching MONDO:0012928 hereditary spastic paraplegia 42 skos:exactMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:UnspecifiedMatching MONDO:0012928 hereditary spastic paraplegia 42 skos:exactMatch SCTID:763070001 semapv:UnspecifiedMatching MONDO:0012928 hereditary spastic paraplegia 42 skos:exactMatch UMLS:C2675528 semapv:UnspecifiedMatching MONDO:0012928 hereditary spastic paraplegia 42 skos:exactMatch mesh:C567262 semapv:UnspecifiedMatching MONDO:0012929 Compton-North congenital myopathy skos:exactMatch DOID:0080101 Compton-North congenital myopathy semapv:UnspecifiedMatching MONDO:0012929 Compton-North congenital myopathy skos:exactMatch OMIM:612540 congenital myopathy 12 semapv:UnspecifiedMatching MONDO:0012929 Compton-North congenital myopathy skos:exactMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:UnspecifiedMatching MONDO:0012929 Compton-North congenital myopathy skos:exactMatch UMLS:C2675527 semapv:UnspecifiedMatching MONDO:0012929 Compton-North congenital myopathy skos:exactMatch mesh:C567261 semapv:UnspecifiedMatching MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch DOID:0112136 severe congenital neutropenia 4 semapv:UnspecifiedMatching MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:UnspecifiedMatching MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:UnspecifiedMatching MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch UMLS:C2751630 semapv:UnspecifiedMatching MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to skos:exactMatch OMIM:612551 focal segmental glomerulosclerosis 4, susceptibility to semapv:UnspecifiedMatching MONDO:0012932 myopia 16, autosomal dominant skos:exactMatch OMIM:612554 myopia 16, autosomal dominant semapv:UnspecifiedMatching MONDO:0012932 myopia 16, autosomal dominant skos:exactMatch UMLS:C2675523 semapv:UnspecifiedMatching MONDO:0012932 myopia 16, autosomal dominant skos:exactMatch mesh:C567259 semapv:UnspecifiedMatching MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:exactMatch OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 skos:exactMatch OMIM:612557 leukemia, chronic lymphocytic, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012935 leukemia, chronic lymphocytic, susceptibility to, 4 skos:exactMatch OMIM:612558 leukemia, chronic lymphocytic, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 skos:exactMatch OMIM:612559 leukemia, chronic lymphocytic, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch DOID:0111879 Diamond-Blackfan anemia 6 semapv:UnspecifiedMatching MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch NCIT:C176915 Diamond-Blackfan Anemia 6 semapv:UnspecifiedMatching MONDO:0012937 Diamond-Blackfan anemia 6 skos:exactMatch OMIM:612561 diamond-blackfan anemia 6 semapv:UnspecifiedMatching MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch DOID:0111878 Diamond-Blackfan anemia 7 semapv:UnspecifiedMatching MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch NCIT:C176916 Diamond-Blackfan Anemia 7 semapv:UnspecifiedMatching MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch OMIM:612562 diamond-blackfan anemia 7 semapv:UnspecifiedMatching MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch UMLS:C2675512 semapv:UnspecifiedMatching MONDO:0012938 Diamond-Blackfan anemia 7 skos:exactMatch mesh:C567254 semapv:UnspecifiedMatching MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch DOID:0111881 Diamond-Blackfan anemia 8 semapv:UnspecifiedMatching MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch NCIT:C176917 Diamond-Blackfan Anemia 8 semapv:UnspecifiedMatching MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch OMIM:612563 diamond-blackfan anemia 8 semapv:UnspecifiedMatching MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch UMLS:C2675511 semapv:UnspecifiedMatching MONDO:0012939 Diamond-Blackfan anemia 8 skos:exactMatch mesh:C567253 semapv:UnspecifiedMatching MONDO:0012940 inflammatory bowel disease 24 skos:exactMatch DOID:0110908 inflammatory bowel disease 24 semapv:UnspecifiedMatching MONDO:0012940 inflammatory bowel disease 24 skos:exactMatch OMIM:612566 inflammatory bowel disease 24 semapv:UnspecifiedMatching MONDO:0012940 inflammatory bowel disease 24 skos:exactMatch UMLS:C2675509 semapv:UnspecifiedMatching MONDO:0012940 inflammatory bowel disease 24 skos:exactMatch mesh:C567252 semapv:UnspecifiedMatching MONDO:0012941 inflammatory bowel disease 25 skos:exactMatch DOID:0110909 inflammatory bowel disease 25 semapv:UnspecifiedMatching MONDO:0012941 inflammatory bowel disease 25 skos:exactMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:UnspecifiedMatching MONDO:0012941 inflammatory bowel disease 25 skos:exactMatch UMLS:C2675508 semapv:UnspecifiedMatching MONDO:0012941 inflammatory bowel disease 25 skos:exactMatch mesh:C567251 semapv:UnspecifiedMatching MONDO:0012942 lung cancer susceptibility 3 skos:exactMatch OMIM:612571 lung cancer susceptibility 3 semapv:UnspecifiedMatching MONDO:0012942 lung cancer susceptibility 3 skos:exactMatch UMLS:C2675497 semapv:UnspecifiedMatching MONDO:0012943 retinitis pigmentosa 46 skos:exactMatch DOID:0110409 retinitis pigmentosa 46 semapv:UnspecifiedMatching MONDO:0012943 retinitis pigmentosa 46 skos:exactMatch OMIM:612572 retinitis pigmentosa 46 semapv:UnspecifiedMatching MONDO:0012943 retinitis pigmentosa 46 skos:exactMatch UMLS:C2675496 semapv:UnspecifiedMatching MONDO:0012943 retinitis pigmentosa 46 skos:exactMatch mesh:C567249 semapv:UnspecifiedMatching MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome skos:exactMatch OMIM:612576 chromosome 17p13.3, telomeric, duplication syndrome semapv:UnspecifiedMatching MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome skos:exactMatch UMLS:C2675492 semapv:UnspecifiedMatching MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome skos:exactMatch mesh:C567245 semapv:UnspecifiedMatching MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch DOID:0060202 amyotrophic lateral sclerosis type 11 semapv:UnspecifiedMatching MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch OMIM:612577 amyotrophic lateral sclerosis 11 semapv:UnspecifiedMatching MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch UMLS:C2675491 semapv:UnspecifiedMatching MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch mesh:C567244 semapv:UnspecifiedMatching MONDO:0012946 intellectual disability, autosomal dominant 3 skos:exactMatch DOID:0070033 autosomal dominant intellectual developmental disorder 3 semapv:UnspecifiedMatching MONDO:0012946 intellectual disability, autosomal dominant 3 skos:exactMatch OMIM:612580 intellectual developmental disorder, autosomal dominant 3 semapv:UnspecifiedMatching MONDO:0012946 intellectual disability, autosomal dominant 3 skos:exactMatch UMLS:C2675488 semapv:UnspecifiedMatching MONDO:0012946 intellectual disability, autosomal dominant 3 skos:exactMatch mesh:C567241 semapv:UnspecifiedMatching MONDO:0012947 intellectual disability, autosomal dominant 4 skos:exactMatch DOID:0070034 autosomal dominant intellectual developmental disorder 4 semapv:UnspecifiedMatching MONDO:0012947 intellectual disability, autosomal dominant 4 skos:exactMatch OMIM:612581 intellectual developmental disorder, autosomal dominant 4 semapv:UnspecifiedMatching MONDO:0012947 intellectual disability, autosomal dominant 4 skos:exactMatch UMLS:C2675487 semapv:UnspecifiedMatching MONDO:0012947 intellectual disability, autosomal dominant 4 skos:exactMatch mesh:C567240 semapv:UnspecifiedMatching MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:exactMatch DOID:0060422 chromosome 6pter-p24 deletion syndrome semapv:UnspecifiedMatching MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:exactMatch OMIM:612582 chromosome 6pter-p24 deletion syndrome semapv:UnspecifiedMatching MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:exactMatch Orphanet:96125 Distal deletion 6p semapv:UnspecifiedMatching MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:exactMatch SCTID:718688008 semapv:UnspecifiedMatching MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:exactMatch UMLS:C2675486 semapv:UnspecifiedMatching MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:exactMatch mesh:C567239 semapv:UnspecifiedMatching MONDO:0012949 aneurysm, intracranial berry, 9 skos:exactMatch DOID:0080972 intracranial berry aneurysm 9 semapv:UnspecifiedMatching MONDO:0012949 aneurysm, intracranial berry, 9 skos:exactMatch OMIM:612586 aneurysm, intracranial berry, 9 semapv:UnspecifiedMatching MONDO:0012949 aneurysm, intracranial berry, 9 skos:exactMatch UMLS:C2675485 semapv:UnspecifiedMatching MONDO:0012949 aneurysm, intracranial berry, 9 skos:exactMatch mesh:C567238 semapv:UnspecifiedMatching MONDO:0012950 aneurysm, intracranial berry, 10 skos:exactMatch DOID:0080973 intracranial berry aneurysm 10 semapv:UnspecifiedMatching MONDO:0012950 aneurysm, intracranial berry, 10 skos:exactMatch OMIM:612587 aneurysm, intracranial berry, 10 semapv:UnspecifiedMatching MONDO:0012950 aneurysm, intracranial berry, 10 skos:exactMatch UMLS:C2675484 semapv:UnspecifiedMatching MONDO:0012950 aneurysm, intracranial berry, 10 skos:exactMatch mesh:C567237 semapv:UnspecifiedMatching MONDO:0012951 colorectal cancer, susceptibility to, 8 skos:exactMatch OMIM:612589 colorectal cancer, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0012952 colorectal cancer, susceptibility to, 9 skos:exactMatch OMIM:612590 colorectal cancer, susceptibility to, 9 semapv:UnspecifiedMatching MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:exactMatch OMIM:612591 colorectal cancer, susceptibility to, 10 semapv:UnspecifiedMatching MONDO:0012954 colorectal cancer, susceptibility to, 11 skos:exactMatch OMIM:612592 colorectal cancer, susceptibility to, 11 semapv:UnspecifiedMatching MONDO:0012955 lung cancer susceptibility 4 skos:exactMatch OMIM:612593 lung cancer susceptibility 4 semapv:UnspecifiedMatching MONDO:0012955 lung cancer susceptibility 4 skos:exactMatch UMLS:C2675479 semapv:UnspecifiedMatching MONDO:0012956 multiple sclerosis, susceptibility to, 2 skos:exactMatch OMIM:612594 multiple sclerosis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012957 multiple sclerosis, susceptibility to, 3 skos:exactMatch OMIM:612595 multiple sclerosis, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012958 multiple sclerosis, susceptibility to, 4 skos:exactMatch OMIM:612596 multiple sclerosis, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012959 psoriasis 11, susceptibility to skos:exactMatch DOID:0111285 psoriasis 11 semapv:UnspecifiedMatching MONDO:0012959 psoriasis 11, susceptibility to skos:exactMatch OMIM:612599 psoriasis 11, susceptibility to semapv:UnspecifiedMatching MONDO:0012960 intellectual disability, autosomal dominant 5 skos:exactMatch DOID:0070035 autosomal dominant intellectual developmental disorder 5 semapv:UnspecifiedMatching MONDO:0012960 intellectual disability, autosomal dominant 5 skos:exactMatch OMIM:612621 intellectual developmental disorder, autosomal dominant 5 semapv:UnspecifiedMatching MONDO:0012960 intellectual disability, autosomal dominant 5 skos:exactMatch UMLS:C2675473 semapv:UnspecifiedMatching MONDO:0012960 intellectual disability, autosomal dominant 5 skos:exactMatch mesh:C567234 semapv:UnspecifiedMatching MONDO:0012961 type 1 diabetes mellitus 23 skos:exactMatch DOID:0110760 type 1 diabetes mellitus 23 semapv:UnspecifiedMatching MONDO:0012961 type 1 diabetes mellitus 23 skos:exactMatch OMIM:612622 iia 1 diabetes mellitus 23 semapv:UnspecifiedMatching MONDO:0012961 type 1 diabetes mellitus 23 skos:exactMatch UMLS:C2675472 semapv:UnspecifiedMatching MONDO:0012961 type 1 diabetes mellitus 23 skos:exactMatch mesh:C567233 semapv:UnspecifiedMatching MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:exactMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:exactMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:exactMatch DOID:0060397 chromosome 15q26-qter deletion syndrome semapv:UnspecifiedMatching MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:exactMatch OMIM:612626 chromosome 15q26-qter deletion syndrome semapv:UnspecifiedMatching MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:exactMatch Orphanet:1596 Distal deletion 15q semapv:UnspecifiedMatching MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:exactMatch SCTID:766050000 semapv:UnspecifiedMatching MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:exactMatch UMLS:C2675463 semapv:UnspecifiedMatching MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:exactMatch mesh:C567232 semapv:UnspecifiedMatching MONDO:0012965 seizures, benign familial infantile, 4 skos:exactMatch DOID:0081117 benign familial infantile seizures 4 semapv:UnspecifiedMatching MONDO:0012965 seizures, benign familial infantile, 4 skos:exactMatch OMIM:612627 seizures, benign familial infantile, 4 semapv:UnspecifiedMatching MONDO:0012965 seizures, benign familial infantile, 4 skos:exactMatch UMLS:C2675462 semapv:UnspecifiedMatching MONDO:0012965 seizures, benign familial infantile, 4 skos:exactMatch mesh:C567231 semapv:UnspecifiedMatching MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:exactMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:exactMatch OMIM:612631 adenylate kinase deficiency, hemolytic anemia due to semapv:UnspecifiedMatching MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:exactMatch Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency semapv:UnspecifiedMatching MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:exactMatch SCTID:766982000 semapv:UnspecifiedMatching MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:exactMatch UMLS:C2675459 semapv:UnspecifiedMatching MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:exactMatch mesh:C567228 semapv:UnspecifiedMatching MONDO:0012968 Usher syndrome type 1H skos:exactMatch DOID:0110835 Usher syndrome type 1H semapv:UnspecifiedMatching MONDO:0012968 Usher syndrome type 1H skos:exactMatch OMIM:612632 usher syndrome, iia 1h semapv:UnspecifiedMatching MONDO:0012968 Usher syndrome type 1H skos:exactMatch UMLS:C2675458 semapv:UnspecifiedMatching MONDO:0012968 Usher syndrome type 1H skos:exactMatch mesh:C567227 semapv:UnspecifiedMatching MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 skos:exactMatch OMIM:612633 microvascular complications of diabetes, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:exactMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:exactMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0012972 febrile seizures, familial, 10 skos:exactMatch DOID:0111304 familial febrile seizures 10 semapv:UnspecifiedMatching MONDO:0012972 febrile seizures, familial, 10 skos:exactMatch OMIM:612637 febrile seizures, familial, 10 semapv:UnspecifiedMatching MONDO:0012972 febrile seizures, familial, 10 skos:exactMatch UMLS:C2675251 semapv:UnspecifiedMatching MONDO:0012972 febrile seizures, familial, 10 skos:exactMatch mesh:C567218 semapv:UnspecifiedMatching MONDO:0012973 inflammatory bowel disease 26 skos:exactMatch DOID:0110901 inflammatory bowel disease 26 semapv:UnspecifiedMatching MONDO:0012973 inflammatory bowel disease 26 skos:exactMatch OMIM:612639 inflammatory bowel disease 26 semapv:UnspecifiedMatching MONDO:0012973 inflammatory bowel disease 26 skos:exactMatch UMLS:C2675249 semapv:UnspecifiedMatching MONDO:0012973 inflammatory bowel disease 26 skos:exactMatch mesh:C567217 semapv:UnspecifiedMatching MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:exactMatch DOID:0110583 autosomal dominant nonsyndromic deafness 59 semapv:UnspecifiedMatching MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:exactMatch OMIM:612642 deafness, autosomal dominant 59 semapv:UnspecifiedMatching MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:exactMatch UMLS:C2675238 semapv:UnspecifiedMatching MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:exactMatch mesh:C567216 semapv:UnspecifiedMatching MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:exactMatch DOID:0110565 autosomal dominant nonsyndromic deafness 3B semapv:UnspecifiedMatching MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:exactMatch OMIM:612643 deafness, autosomal dominant 3b semapv:UnspecifiedMatching MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:exactMatch UMLS:C2675237 semapv:UnspecifiedMatching MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:exactMatch mesh:C567215 semapv:UnspecifiedMatching MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:exactMatch DOID:0110559 autosomal dominant nonsyndromic deafness 2B semapv:UnspecifiedMatching MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:exactMatch OMIM:612644 deafness, autosomal dominant 2b semapv:UnspecifiedMatching MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:exactMatch UMLS:C2675236 semapv:UnspecifiedMatching MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:exactMatch mesh:C567214 semapv:UnspecifiedMatching MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:exactMatch DOID:0110476 autosomal recessive nonsyndromic deafness 1B semapv:UnspecifiedMatching MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:exactMatch OMIM:612645 deafness, autosomal recessive 1b semapv:UnspecifiedMatching MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:exactMatch UMLS:C2675235 semapv:UnspecifiedMatching MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:exactMatch mesh:C567213 semapv:UnspecifiedMatching MONDO:0012978 primary ciliary dyskinesia 11 skos:exactMatch DOID:0110602 primary ciliary dyskinesia 11 semapv:UnspecifiedMatching MONDO:0012978 primary ciliary dyskinesia 11 skos:exactMatch OMIM:612649 ciliary dyskinesia, primary, 11 semapv:UnspecifiedMatching MONDO:0012978 primary ciliary dyskinesia 11 skos:exactMatch UMLS:C2675229 semapv:UnspecifiedMatching MONDO:0012978 primary ciliary dyskinesia 11 skos:exactMatch mesh:C567212 semapv:UnspecifiedMatching MONDO:0012979 primary ciliary dyskinesia 12 skos:exactMatch DOID:0110601 primary ciliary dyskinesia 12 semapv:UnspecifiedMatching MONDO:0012979 primary ciliary dyskinesia 12 skos:exactMatch OMIM:612650 ciliary dyskinesia, primary, 12 semapv:UnspecifiedMatching MONDO:0012979 primary ciliary dyskinesia 12 skos:exactMatch UMLS:C2675228 semapv:UnspecifiedMatching MONDO:0012979 primary ciliary dyskinesia 12 skos:exactMatch mesh:C567211 semapv:UnspecifiedMatching MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:exactMatch DOID:0060641 endocrine-cerebro-osteodysplasia syndrome semapv:UnspecifiedMatching MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:exactMatch OMIM:612651 endocrine-cerebroosteodysplasia semapv:UnspecifiedMatching MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:exactMatch Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome semapv:UnspecifiedMatching MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:exactMatch SCTID:723309006 semapv:UnspecifiedMatching MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:exactMatch UMLS:C2675227 semapv:UnspecifiedMatching MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:exactMatch mesh:C567210 semapv:UnspecifiedMatching MONDO:0012981 hereditary spherocytosis type 4 skos:exactMatch DOID:0110919 hereditary spherocytosis type 4 semapv:UnspecifiedMatching MONDO:0012981 hereditary spherocytosis type 4 skos:exactMatch OMIM:612653 spherocytosis, iia 4 semapv:UnspecifiedMatching MONDO:0012981 hereditary spherocytosis type 4 skos:exactMatch UMLS:C2675212 semapv:UnspecifiedMatching MONDO:0012981 hereditary spherocytosis type 4 skos:exactMatch mesh:C567208 semapv:UnspecifiedMatching MONDO:0012982 episodic ataxia type 6 skos:exactMatch DOID:0050994 episodic ataxia type 6 semapv:UnspecifiedMatching MONDO:0012982 episodic ataxia type 6 skos:exactMatch OMIM:612656 episodic ataxia, iia 6 semapv:UnspecifiedMatching MONDO:0012982 episodic ataxia type 6 skos:exactMatch Orphanet:209967 Episodic ataxia type 6 semapv:UnspecifiedMatching MONDO:0012982 episodic ataxia type 6 skos:exactMatch SCTID:718753002 semapv:UnspecifiedMatching MONDO:0012982 episodic ataxia type 6 skos:exactMatch UMLS:C2675211 semapv:UnspecifiedMatching MONDO:0012982 episodic ataxia type 6 skos:exactMatch mesh:C567207 semapv:UnspecifiedMatching MONDO:0012983 cone-rod dystrophy 12 skos:exactMatch DOID:0111019 cone-rod dystrophy 12 semapv:UnspecifiedMatching MONDO:0012983 cone-rod dystrophy 12 skos:exactMatch OMIM:612657 cone-rod dystrophy 12 semapv:UnspecifiedMatching MONDO:0012983 cone-rod dystrophy 12 skos:exactMatch UMLS:C2675210 semapv:UnspecifiedMatching MONDO:0012983 cone-rod dystrophy 12 skos:exactMatch mesh:C567206 semapv:UnspecifiedMatching MONDO:0012984 PHARC syndrome skos:exactMatch DOID:0080181 PHARC syndrome semapv:UnspecifiedMatching MONDO:0012984 PHARC syndrome skos:exactMatch OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract semapv:UnspecifiedMatching MONDO:0012984 PHARC syndrome skos:exactMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:UnspecifiedMatching MONDO:0012984 PHARC syndrome skos:exactMatch SCTID:723452007 semapv:UnspecifiedMatching MONDO:0012984 PHARC syndrome skos:exactMatch UMLS:C2675204 semapv:UnspecifiedMatching MONDO:0012984 PHARC syndrome skos:exactMatch mesh:C567203 semapv:UnspecifiedMatching MONDO:0012985 hereditary spherocytosis type 5 skos:exactMatch DOID:0110920 hereditary spherocytosis type 5 semapv:UnspecifiedMatching MONDO:0012985 hereditary spherocytosis type 5 skos:exactMatch OMIM:612690 spherocytosis, iia 5 semapv:UnspecifiedMatching MONDO:0012985 hereditary spherocytosis type 5 skos:exactMatch UMLS:C2675192 semapv:UnspecifiedMatching MONDO:0012985 hereditary spherocytosis type 5 skos:exactMatch mesh:C567202 semapv:UnspecifiedMatching MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria semapv:UnspecifiedMatching MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch OMIM:612691 polymicrogyria, bilateral temporooccipital semapv:UnspecifiedMatching MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria semapv:UnspecifiedMatching MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch UMLS:C4013648 semapv:UnspecifiedMatching MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch mesh:C567201 semapv:UnspecifiedMatching MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:exactMatch DOID:0081138 agammaglobulinemia 6 semapv:UnspecifiedMatching MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:exactMatch OMIM:612692 agammaglobulinemia 6, autosomal recessive semapv:UnspecifiedMatching MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:exactMatch UMLS:C3150207 semapv:UnspecifiedMatching MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:exactMatch DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia semapv:UnspecifiedMatching MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:exactMatch OMIM:612702 hypogonadotropic hypogonadism 6 with or without anosmia semapv:UnspecifiedMatching MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:exactMatch UMLS:C3552574 semapv:UnspecifiedMatching MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:exactMatch mesh:C567199 semapv:UnspecifiedMatching MONDO:0012989 microcephaly 7, primary, autosomal recessive skos:exactMatch DOID:0070278 primary autosomal recessive microcephaly 7 semapv:UnspecifiedMatching MONDO:0012989 microcephaly 7, primary, autosomal recessive skos:exactMatch OMIM:612703 microcephaly 7, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0012989 microcephaly 7, primary, autosomal recessive skos:exactMatch UMLS:C2675187 semapv:UnspecifiedMatching MONDO:0012989 microcephaly 7, primary, autosomal recessive skos:exactMatch mesh:C567198 semapv:UnspecifiedMatching MONDO:0012990 Leber congenital amaurosis 13 skos:exactMatch DOID:0110330 Leber congenital amaurosis 13 semapv:UnspecifiedMatching MONDO:0012990 Leber congenital amaurosis 13 skos:exactMatch OMIM:612712 leber congenital amaurosis 13 semapv:UnspecifiedMatching MONDO:0012990 Leber congenital amaurosis 13 skos:exactMatch UMLS:C2675186 semapv:UnspecifiedMatching MONDO:0012990 Leber congenital amaurosis 13 skos:exactMatch mesh:C567197 semapv:UnspecifiedMatching MONDO:0012991 Kahrizi syndrome skos:exactMatch DOID:0050807 Kahrizi syndrome semapv:UnspecifiedMatching MONDO:0012991 Kahrizi syndrome skos:exactMatch OMIM:612713 kahrizi syndrome semapv:UnspecifiedMatching MONDO:0012991 Kahrizi syndrome skos:exactMatch UMLS:C2675185 semapv:UnspecifiedMatching MONDO:0012991 Kahrizi syndrome skos:exactMatch mesh:C567196 semapv:UnspecifiedMatching MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:exactMatch OMIM:612714 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis semapv:UnspecifiedMatching MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:exactMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:UnspecifiedMatching MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:exactMatch SCTID:722207000 semapv:UnspecifiedMatching MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:exactMatch UMLS:C2675184 semapv:UnspecifiedMatching MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:exactMatch mesh:C567195 semapv:UnspecifiedMatching MONDO:0012993 dyschromatosis universalis hereditaria 2 skos:exactMatch OMIM:612715 dyschromatosis universalis hereditaria 2 semapv:UnspecifiedMatching MONDO:0012993 dyschromatosis universalis hereditaria 2 skos:exactMatch UMLS:C2675183 semapv:UnspecifiedMatching MONDO:0012993 dyschromatosis universalis hereditaria 2 skos:exactMatch mesh:C567194 semapv:UnspecifiedMatching MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch DOID:0111168 sepiapterin reductase deficiency semapv:UnspecifiedMatching MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch OMIM:612716 dystonia, dopa-responsive, due to sepiapterin reductase deficiency semapv:UnspecifiedMatching MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:UnspecifiedMatching MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch SCTID:45116002 semapv:UnspecifiedMatching MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch UMLS:C0268468 semapv:UnspecifiedMatching MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch mesh:C562657 semapv:UnspecifiedMatching MONDO:0012995 myopia 15, autosomal dominant skos:exactMatch OMIM:612717 myopia 15, autosomal dominant semapv:UnspecifiedMatching MONDO:0012995 myopia 15, autosomal dominant skos:exactMatch UMLS:C2675180 semapv:UnspecifiedMatching MONDO:0012995 myopia 15, autosomal dominant skos:exactMatch mesh:C567193 semapv:UnspecifiedMatching MONDO:0012996 AGAT deficiency skos:exactMatch DOID:0050712 AGAT deficiency semapv:UnspecifiedMatching MONDO:0012996 AGAT deficiency skos:exactMatch OMIM:612718 cerebral creatine deficiency syndrome 3 semapv:UnspecifiedMatching MONDO:0012996 AGAT deficiency skos:exactMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:UnspecifiedMatching MONDO:0012996 AGAT deficiency skos:exactMatch SCTID:702440000 semapv:UnspecifiedMatching MONDO:0012996 AGAT deficiency skos:exactMatch UMLS:C2675179 semapv:UnspecifiedMatching MONDO:0012996 AGAT deficiency skos:exactMatch mesh:C567192 semapv:UnspecifiedMatching MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:exactMatch OMIM:301068 hardikar syndrome semapv:UnspecifiedMatching MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:exactMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:UnspecifiedMatching MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:exactMatch SCTID:720636001 semapv:UnspecifiedMatching MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:exactMatch UMLS:C0795969 semapv:UnspecifiedMatching MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:exactMatch mesh:C535632 semapv:UnspecifiedMatching MONDO:0012998 faciocardiomelic syndrome skos:exactMatch OMIM:612731 faciocardiomelic syndrome semapv:UnspecifiedMatching MONDO:0012998 faciocardiomelic syndrome skos:exactMatch UMLS:C2674798 semapv:UnspecifiedMatching MONDO:0012998 faciocardiomelic syndrome skos:exactMatch mesh:C567176 semapv:UnspecifiedMatching MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch DOID:0050799 guanidinoacetate methyltransferase deficiency semapv:UnspecifiedMatching MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch OMIM:612736 cerebral creatine deficiency syndrome 2 semapv:UnspecifiedMatching MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:UnspecifiedMatching MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch SCTID:124239003 semapv:UnspecifiedMatching MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch UMLS:C0574080 semapv:UnspecifiedMatching MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch mesh:C537622 semapv:UnspecifiedMatching MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:exactMatch NCIT:C133887 Acute Hepatic Porphyria semapv:UnspecifiedMatching MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:exactMatch OMIM:612740 porphyria, acute hepatic semapv:UnspecifiedMatching MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:exactMatch Orphanet:100924 Porphyria due to ALA dehydratase deficiency semapv:UnspecifiedMatching MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:exactMatch mesh:C562618 semapv:UnspecifiedMatching MONDO:0013001 obsolete synesthesia skos:exactMatch OMIM:612759 synesthesia semapv:UnspecifiedMatching MONDO:0013001 obsolete synesthesia skos:exactMatch mesh:C562460 semapv:UnspecifiedMatching MONDO:0013002 cone-rod dystrophy 9 skos:exactMatch DOID:0111020 cone-rod dystrophy 9 semapv:UnspecifiedMatching MONDO:0013002 cone-rod dystrophy 9 skos:exactMatch OMIM:612775 cone-rod dystrophy 9 semapv:UnspecifiedMatching MONDO:0013002 cone-rod dystrophy 9 skos:exactMatch UMLS:C1423873 semapv:UnspecifiedMatching MONDO:0013003 isolated congenital hypoglossia/aglossia skos:exactMatch OMIM:612776 hypoglossia with situs inversus semapv:UnspecifiedMatching MONDO:0013003 isolated congenital hypoglossia/aglossia skos:exactMatch Orphanet:141152 Isolated congenital hypoglossia/aglossia semapv:UnspecifiedMatching MONDO:0013003 isolated congenital hypoglossia/aglossia skos:exactMatch UMLS:C2748587 semapv:UnspecifiedMatching MONDO:0013004 hypotonia, seizures, and precocious puberty skos:exactMatch OMIM:612777 hypotonia, seizures, and precocious puberty semapv:UnspecifiedMatching MONDO:0013004 hypotonia, seizures, and precocious puberty skos:exactMatch UMLS:C2748586 semapv:UnspecifiedMatching MONDO:0013004 hypotonia, seizures, and precocious puberty skos:exactMatch mesh:C567566 semapv:UnspecifiedMatching MONDO:0013005 EAST syndrome skos:exactMatch DOID:0060484 EAST syndrome semapv:UnspecifiedMatching MONDO:0013005 EAST syndrome skos:exactMatch OMIM:612780 seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance semapv:UnspecifiedMatching MONDO:0013005 EAST syndrome skos:exactMatch Orphanet:199343 EAST syndrome semapv:UnspecifiedMatching MONDO:0013005 EAST syndrome skos:exactMatch SCTID:721207002 semapv:UnspecifiedMatching MONDO:0013005 EAST syndrome skos:exactMatch UMLS:C2748572 semapv:UnspecifiedMatching MONDO:0013005 EAST syndrome skos:exactMatch mesh:C557674 semapv:UnspecifiedMatching MONDO:0013006 isolated growth hormone deficiency type IB skos:exactMatch DOID:0060874 isolated growth hormone deficiency type IB semapv:UnspecifiedMatching MONDO:0013006 isolated growth hormone deficiency type IB skos:exactMatch OMIM:612781 isolated growth hormone deficiency, iia 1b semapv:UnspecifiedMatching MONDO:0013006 isolated growth hormone deficiency type IB skos:exactMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:UnspecifiedMatching MONDO:0013006 isolated growth hormone deficiency type IB skos:exactMatch UMLS:C2748571 semapv:UnspecifiedMatching MONDO:0013006 isolated growth hormone deficiency type IB skos:exactMatch mesh:C567564 semapv:UnspecifiedMatching MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch DOID:0111976 immunodeficiency 9 semapv:UnspecifiedMatching MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch OMIM:612782 immunodeficiency 9 semapv:UnspecifiedMatching MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency semapv:UnspecifiedMatching MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch UMLS:C2748568 semapv:UnspecifiedMatching MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch mesh:C557826 semapv:UnspecifiedMatching MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch DOID:0111970 immunodeficiency 10 semapv:UnspecifiedMatching MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch OMIM:612783 immunodeficiency 10 semapv:UnspecifiedMatching MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency semapv:UnspecifiedMatching MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch UMLS:C2748557 semapv:UnspecifiedMatching MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch mesh:C557827 semapv:UnspecifiedMatching MONDO:0013009 Megarbane-Jalkh syndrome skos:exactMatch OMIM:612785 megarbane-jalkh syndrome semapv:UnspecifiedMatching MONDO:0013009 Megarbane-Jalkh syndrome skos:exactMatch UMLS:C2748555 semapv:UnspecifiedMatching MONDO:0013009 Megarbane-Jalkh syndrome skos:exactMatch mesh:C548071 semapv:UnspecifiedMatching MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:exactMatch DOID:0110522 autosomal recessive nonsyndromic deafness 71 semapv:UnspecifiedMatching MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:exactMatch OMIM:612789 deafness, autosomal recessive 71 semapv:UnspecifiedMatching MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:exactMatch UMLS:C2748554 semapv:UnspecifiedMatching MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:exactMatch mesh:C567562 semapv:UnspecifiedMatching MONDO:0013011 atrial septal defect 5 skos:exactMatch DOID:0110110 atrial heart septal defect 5 semapv:UnspecifiedMatching MONDO:0013011 atrial septal defect 5 skos:exactMatch OMIM:612794 atrial septal defect 5 semapv:UnspecifiedMatching MONDO:0013011 atrial septal defect 5 skos:exactMatch UMLS:C2748552 semapv:UnspecifiedMatching MONDO:0013011 atrial septal defect 5 skos:exactMatch mesh:C567561 semapv:UnspecifiedMatching MONDO:0013012 inflammatory bowel disease 27 skos:exactMatch DOID:0110902 inflammatory bowel disease 27 semapv:UnspecifiedMatching MONDO:0013012 inflammatory bowel disease 27 skos:exactMatch OMIM:612796 inflammatory bowel disease 27 semapv:UnspecifiedMatching MONDO:0013012 inflammatory bowel disease 27 skos:exactMatch UMLS:C2748550 semapv:UnspecifiedMatching MONDO:0013012 inflammatory bowel disease 27 skos:exactMatch mesh:C567559 semapv:UnspecifiedMatching MONDO:0013013 question mark ears, isolated skos:exactMatch OMIM:612798 question mark ears, isolated semapv:UnspecifiedMatching MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:exactMatch OMIM:612813 spondyloepimetaphyseal dysplasia, aggrecan iia semapv:UnspecifiedMatching MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:exactMatch Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:UnspecifiedMatching MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:exactMatch SCTID:719165004 semapv:UnspecifiedMatching MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:exactMatch UMLS:C2748544 semapv:UnspecifiedMatching MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:exactMatch mesh:C567558 semapv:UnspecifiedMatching MONDO:0013015 Brugada syndrome 5 skos:exactMatch DOID:0110222 Brugada syndrome 5 semapv:UnspecifiedMatching MONDO:0013015 Brugada syndrome 5 skos:exactMatch OMIM:612838 brugada syndrome 5 semapv:UnspecifiedMatching MONDO:0013015 Brugada syndrome 5 skos:exactMatch UMLS:C2748541 semapv:UnspecifiedMatching MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch DOID:0110912 leukocyte adhesion deficiency 3 semapv:UnspecifiedMatching MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch OMIM:612840 leukocyte adhesion deficiency, iia 3 semapv:UnspecifiedMatching MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:UnspecifiedMatching MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch UMLS:C2748536 semapv:UnspecifiedMatching MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch mesh:C567555 semapv:UnspecifiedMatching MONDO:0013017 hypotrichosis 5 skos:exactMatch DOID:0110702 hypotrichosis 5 semapv:UnspecifiedMatching MONDO:0013017 hypotrichosis 5 skos:exactMatch OMIM:612841 hypotrichosis 5 semapv:UnspecifiedMatching MONDO:0013017 hypotrichosis 5 skos:exactMatch UMLS:C2748535 semapv:UnspecifiedMatching MONDO:0013017 hypotrichosis 5 skos:exactMatch mesh:C567554 semapv:UnspecifiedMatching MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:exactMatch DOID:0080755 autosomal dominant keratosis follicularis spinulosa decalvans semapv:UnspecifiedMatching MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:exactMatch OMIM:612843 keratosis follicularis spinulosa decalvans, autosomal dominant semapv:UnspecifiedMatching MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:exactMatch UMLS:C2748527 semapv:UnspecifiedMatching MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:exactMatch mesh:C567553 semapv:UnspecifiedMatching MONDO:0013020 narcolepsy 5, susceptibility to skos:exactMatch OMIM:612851 narcolepsy 5, susceptibility to semapv:UnspecifiedMatching MONDO:0013020 narcolepsy 5, susceptibility to skos:exactMatch UMLS:C2748508 semapv:UnspecifiedMatching MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch NCIT:C119056 Deficiency of the Interleukin-1 Receptor Antagonist semapv:UnspecifiedMatching MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch OMIM:612852 chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis semapv:UnspecifiedMatching MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:UnspecifiedMatching MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch UMLS:C2748507 semapv:UnspecifiedMatching MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch mesh:C557815 semapv:UnspecifiedMatching MONDO:0013022 restless legs syndrome, susceptibility to, 7 skos:exactMatch OMIM:612853 restless legs syndrome, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0013023 orofacial cleft 12 skos:exactMatch DOID:0080405 orofacial cleft 12 semapv:UnspecifiedMatching MONDO:0013023 orofacial cleft 12 skos:exactMatch OMIM:612858 orofacial cleft 12 semapv:UnspecifiedMatching MONDO:0013023 orofacial cleft 12 skos:exactMatch UMLS:C2748505 semapv:UnspecifiedMatching MONDO:0013023 orofacial cleft 12 skos:exactMatch mesh:C567548 semapv:UnspecifiedMatching MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:exactMatch OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to semapv:UnspecifiedMatching MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:exactMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:UnspecifiedMatching MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:exactMatch SCTID:233947005 semapv:UnspecifiedMatching MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:exactMatch UMLS:C2748504 semapv:UnspecifiedMatching MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:exactMatch DOID:0060424 chromosome 6q24-q25 deletion syndrome semapv:UnspecifiedMatching MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:exactMatch OMIM:612863 chromosome 6q24-q25 deletion syndrome semapv:UnspecifiedMatching MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:exactMatch Orphanet:251056 6q25 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:exactMatch SCTID:719663005 semapv:UnspecifiedMatching MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:exactMatch UMLS:C3150215 semapv:UnspecifiedMatching MONDO:0013026 subepithelial mucinous corneal dystrophy skos:exactMatch DOID:0060454 subepithelial mucinous corneal dystrophy semapv:UnspecifiedMatching MONDO:0013026 subepithelial mucinous corneal dystrophy skos:exactMatch OMIM:612867 corneal dystrophy, subepithelial mucinous semapv:UnspecifiedMatching MONDO:0013026 subepithelial mucinous corneal dystrophy skos:exactMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:UnspecifiedMatching MONDO:0013026 subepithelial mucinous corneal dystrophy skos:exactMatch SCTID:723582004 semapv:UnspecifiedMatching MONDO:0013026 subepithelial mucinous corneal dystrophy skos:exactMatch UMLS:C2748503 semapv:UnspecifiedMatching MONDO:0013026 subepithelial mucinous corneal dystrophy skos:exactMatch mesh:C567547 semapv:UnspecifiedMatching MONDO:0013027 posterior amorphous corneal dystrophy skos:exactMatch DOID:0060452 posterior amorphous corneal dystrophy semapv:UnspecifiedMatching MONDO:0013027 posterior amorphous corneal dystrophy skos:exactMatch OMIM:612868 corneal dystrophy, posterior amorphous semapv:UnspecifiedMatching MONDO:0013027 posterior amorphous corneal dystrophy skos:exactMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:UnspecifiedMatching MONDO:0013027 posterior amorphous corneal dystrophy skos:exactMatch SCTID:719296002 semapv:UnspecifiedMatching MONDO:0013027 posterior amorphous corneal dystrophy skos:exactMatch UMLS:C2748502 semapv:UnspecifiedMatching MONDO:0013027 posterior amorphous corneal dystrophy skos:exactMatch mesh:C567546 semapv:UnspecifiedMatching MONDO:0013028 adenosine monophosphate deaminase deficiency skos:exactMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:UnspecifiedMatching MONDO:0013028 adenosine monophosphate deaminase deficiency skos:exactMatch SCTID:9105005 semapv:UnspecifiedMatching MONDO:0013028 adenosine monophosphate deaminase deficiency skos:exactMatch mesh:C538234 semapv:UnspecifiedMatching MONDO:0013029 cerebellar ataxia type 9 skos:exactMatch DOID:0111747 cerebellar ataxia type 9 semapv:UnspecifiedMatching MONDO:0013029 cerebellar ataxia type 9 skos:exactMatch OMIM:612876 spinocerebellar ataxia 9 semapv:UnspecifiedMatching MONDO:0013029 cerebellar ataxia type 9 skos:exactMatch UMLS:C3887996 semapv:UnspecifiedMatching MONDO:0013030 dilated cardiomyopathy 1BB skos:exactMatch DOID:0110458 dilated cardiomyopathy 1BB semapv:UnspecifiedMatching MONDO:0013030 dilated cardiomyopathy 1BB skos:exactMatch OMIM:612877 cardiomyopathy, dilated, 1bb semapv:UnspecifiedMatching MONDO:0013030 dilated cardiomyopathy 1BB skos:exactMatch UMLS:C2752072 semapv:UnspecifiedMatching MONDO:0013030 dilated cardiomyopathy 1BB skos:exactMatch mesh:C567877 semapv:UnspecifiedMatching MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:exactMatch OMIM:612881 chromosome 5q14.3 deletion syndrome, distal semapv:UnspecifiedMatching MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:exactMatch UMLS:C2752071 semapv:UnspecifiedMatching MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:exactMatch mesh:C567876 semapv:UnspecifiedMatching MONDO:0013032 epilepsy, idiopathic generalized, susceptibility to, 8 skos:exactMatch DOID:0111322 idiopathic generalized epilepsy 8 semapv:UnspecifiedMatching MONDO:0013032 epilepsy, idiopathic generalized, susceptibility to, 8 skos:exactMatch OMIM:612899 epilepsy, idiopathic generalized, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 skos:exactMatch DOID:0081360 spastic quadriplegic cerebral palsy 2 semapv:UnspecifiedMatching MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 skos:exactMatch OMIM:612900 cerebral palsy, spastic quadriplegic, 2 semapv:UnspecifiedMatching MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 skos:exactMatch UMLS:C2752061 semapv:UnspecifiedMatching MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 skos:exactMatch mesh:C567867 semapv:UnspecifiedMatching MONDO:0013034 keratosis palmoplantaris striata 2 skos:exactMatch DOID:0081109 keratosis palmoplantaris striata 2 semapv:UnspecifiedMatching MONDO:0013034 keratosis palmoplantaris striata 2 skos:exactMatch OMIM:612908 keratosis palmoplantaris striata 2 semapv:UnspecifiedMatching MONDO:0013034 keratosis palmoplantaris striata 2 skos:exactMatch UMLS:C1852127 semapv:UnspecifiedMatching MONDO:0013034 keratosis palmoplantaris striata 2 skos:exactMatch mesh:C565102 semapv:UnspecifiedMatching MONDO:0013035 orofaciodigital syndrome XI skos:exactMatch DOID:0060381 orofaciodigital syndrome XI semapv:UnspecifiedMatching MONDO:0013035 orofaciodigital syndrome XI skos:exactMatch OMIM:612913 orofaciodigital syndrome 11 semapv:UnspecifiedMatching MONDO:0013035 orofaciodigital syndrome XI skos:exactMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:UnspecifiedMatching MONDO:0013035 orofaciodigital syndrome XI skos:exactMatch SCTID:718681002 semapv:UnspecifiedMatching MONDO:0013035 orofaciodigital syndrome XI skos:exactMatch mesh:C557821 semapv:UnspecifiedMatching MONDO:0013036 Zechi-Ceide syndrome skos:exactMatch OMIM:612916 zechi-ceide syndrome semapv:UnspecifiedMatching MONDO:0013036 Zechi-Ceide syndrome skos:exactMatch Orphanet:217017 Zechi-Ceide syndrome semapv:UnspecifiedMatching MONDO:0013036 Zechi-Ceide syndrome skos:exactMatch UMLS:C2752047 semapv:UnspecifiedMatching MONDO:0013036 Zechi-Ceide syndrome skos:exactMatch mesh:C567865 semapv:UnspecifiedMatching MONDO:0013037 Giacheti syndrome skos:exactMatch OMIM:612917 giacheti syndrome semapv:UnspecifiedMatching MONDO:0013037 Giacheti syndrome skos:exactMatch UMLS:C2752043 semapv:UnspecifiedMatching MONDO:0013037 Giacheti syndrome skos:exactMatch mesh:C567864 semapv:UnspecifiedMatching MONDO:0013038 CLOVES syndrome skos:exactMatch DOID:0080351 CLOVES syndrome semapv:UnspecifiedMatching MONDO:0013038 CLOVES syndrome skos:exactMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:UnspecifiedMatching MONDO:0013038 CLOVES syndrome skos:exactMatch Orphanet:140944 CLOVES syndrome semapv:UnspecifiedMatching MONDO:0013038 CLOVES syndrome skos:exactMatch SCTID:719475006 semapv:UnspecifiedMatching MONDO:0013038 CLOVES syndrome skos:exactMatch UMLS:C2752042 semapv:UnspecifiedMatching MONDO:0013038 CLOVES syndrome skos:exactMatch mesh:C567863 semapv:UnspecifiedMatching MONDO:0013039 3M syndrome 2 skos:exactMatch OMIM:612921 three m syndrome 2 semapv:UnspecifiedMatching MONDO:0013039 3M syndrome 2 skos:exactMatch UMLS:C2752041 semapv:UnspecifiedMatching MONDO:0013039 3M syndrome 2 skos:exactMatch mesh:C567862 semapv:UnspecifiedMatching MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:exactMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:exactMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:exactMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:exactMatch OMIM:612925 hemolytic uremic syndrome, atypical, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:exactMatch OMIM:612926 hemolytic uremic syndrome, atypical, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0013045 mycobacterium tuberculosis, susceptibility to, 3 skos:exactMatch OMIM:612929 mycobacterium tuberculosis, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:exactMatch OMIM:612932 glycogen storage disease 13 semapv:UnspecifiedMatching MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:exactMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:UnspecifiedMatching MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:exactMatch UMLS:C2752027 semapv:UnspecifiedMatching MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:exactMatch mesh:C567861 semapv:UnspecifiedMatching MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:exactMatch OMIM:612933 glycogen storage disease 11 semapv:UnspecifiedMatching MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:exactMatch Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:UnspecifiedMatching MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:exactMatch SCTID:237982007 semapv:UnspecifiedMatching MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:exactMatch mesh:C538133 semapv:UnspecifiedMatching MONDO:0013048 hereditary spastic paraplegia 50 skos:exactMatch DOID:0110802 hereditary spastic paraplegia 50 semapv:UnspecifiedMatching MONDO:0013048 hereditary spastic paraplegia 50 skos:exactMatch OMIM:612936 spastic paraplegia 50, autosomal recessive semapv:UnspecifiedMatching MONDO:0013048 hereditary spastic paraplegia 50 skos:exactMatch UMLS:C2752008 semapv:UnspecifiedMatching MONDO:0013048 hereditary spastic paraplegia 50 skos:exactMatch mesh:C567858 semapv:UnspecifiedMatching MONDO:0013049 DPM3-congenital disorder of glycosylation skos:exactMatch OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 semapv:UnspecifiedMatching MONDO:0013049 DPM3-congenital disorder of glycosylation skos:exactMatch Orphanet:263494 DPM3-CDG semapv:UnspecifiedMatching MONDO:0013049 DPM3-congenital disorder of glycosylation skos:exactMatch SCTID:725044000 semapv:UnspecifiedMatching MONDO:0013049 DPM3-congenital disorder of glycosylation skos:exactMatch UMLS:C2752007 semapv:UnspecifiedMatching MONDO:0013049 DPM3-congenital disorder of glycosylation skos:exactMatch mesh:C567857 semapv:UnspecifiedMatching MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:exactMatch OMIM:612938 growth retardation, developmental delay, and facial dysmorphism semapv:UnspecifiedMatching MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:exactMatch Orphanet:210144 Lethal polymalformative syndrome, Boissel type semapv:UnspecifiedMatching MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:exactMatch mesh:C567856 semapv:UnspecifiedMatching MONDO:0013051 autosomal recessive cutis laxa type 2B skos:exactMatch DOID:0070137 autosomal recessive cutis laxa type IIB semapv:UnspecifiedMatching MONDO:0013051 autosomal recessive cutis laxa type 2B skos:exactMatch OMIM:612940 cutis laxa, autosomal recessive, iia 2b semapv:UnspecifiedMatching MONDO:0013051 autosomal recessive cutis laxa type 2B skos:exactMatch Orphanet:357064 Autosomal recessive cutis laxa type 2B semapv:UnspecifiedMatching MONDO:0013051 autosomal recessive cutis laxa type 2B skos:exactMatch UMLS:C2751987 semapv:UnspecifiedMatching MONDO:0013051 autosomal recessive cutis laxa type 2B skos:exactMatch mesh:C567855 semapv:UnspecifiedMatching MONDO:0013052 retinitis pigmentosa 42 skos:exactMatch DOID:0110386 retinitis pigmentosa 42 semapv:UnspecifiedMatching MONDO:0013052 retinitis pigmentosa 42 skos:exactMatch OMIM:612943 retinitis pigmentosa 42 semapv:UnspecifiedMatching MONDO:0013052 retinitis pigmentosa 42 skos:exactMatch UMLS:C2751986 semapv:UnspecifiedMatching MONDO:0013052 retinitis pigmentosa 42 skos:exactMatch mesh:C567854 semapv:UnspecifiedMatching MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:exactMatch OMIM:612946 hadziselimovic syndrome semapv:UnspecifiedMatching MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:exactMatch Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:UnspecifiedMatching MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:exactMatch SCTID:719395001 semapv:UnspecifiedMatching MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:exactMatch UMLS:C2751878 semapv:UnspecifiedMatching MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:exactMatch mesh:C567850 semapv:UnspecifiedMatching MONDO:0013054 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance skos:exactMatch OMIM:612947 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance semapv:UnspecifiedMatching MONDO:0013054 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance skos:exactMatch UMLS:C2751870 semapv:UnspecifiedMatching MONDO:0013054 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance skos:exactMatch mesh:C567849 semapv:UnspecifiedMatching MONDO:0013055 Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features skos:exactMatch OMIM:612948 stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic facial features semapv:UnspecifiedMatching MONDO:0013055 Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features skos:exactMatch UMLS:C5193232 semapv:UnspecifiedMatching MONDO:0013055 Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features skos:exactMatch mesh:C548086 semapv:UnspecifiedMatching MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:exactMatch DOID:0080349 developmental and epileptic encephalopathy 39 semapv:UnspecifiedMatching MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:exactMatch OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy semapv:UnspecifiedMatching MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:exactMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:UnspecifiedMatching MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:exactMatch SCTID:726702005 semapv:UnspecifiedMatching MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:exactMatch UMLS:C2751855 semapv:UnspecifiedMatching MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:exactMatch mesh:C567847 semapv:UnspecifiedMatching MONDO:0013057 psoriasis 12, susceptibility to skos:exactMatch DOID:0111291 psoriasis 12 semapv:UnspecifiedMatching MONDO:0013057 psoriasis 12, susceptibility to skos:exactMatch OMIM:612950 psoriasis 12, susceptibility to semapv:UnspecifiedMatching MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch DOID:0081007 RNASET2-deficient cystic leukoencephalopathy semapv:UnspecifiedMatching MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch OMIM:612951 leukoencephalopathy, cystic, without megalencephaly semapv:UnspecifiedMatching MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:UnspecifiedMatching MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch SCTID:720825005 semapv:UnspecifiedMatching MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch UMLS:C2751843 semapv:UnspecifiedMatching MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch mesh:C567845 semapv:UnspecifiedMatching MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:exactMatch NCIT:C168564 Aicardi-Goutieres Syndrome 5 semapv:UnspecifiedMatching MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:exactMatch OMIM:612952 aicardi-goutieres syndrome 5 semapv:UnspecifiedMatching MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:exactMatch mesh:C535608 semapv:UnspecifiedMatching MONDO:0013060 autosomal recessive Parkinson disease 14 skos:exactMatch DOID:0060900 Parkinson's disease 14 semapv:UnspecifiedMatching MONDO:0013060 autosomal recessive Parkinson disease 14 skos:exactMatch OMIM:612953 parkinson disease 14, autosomal recessive semapv:UnspecifiedMatching MONDO:0013060 autosomal recessive Parkinson disease 14 skos:exactMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:UnspecifiedMatching MONDO:0013060 autosomal recessive Parkinson disease 14 skos:exactMatch SCTID:720466001 semapv:UnspecifiedMatching MONDO:0013060 autosomal recessive Parkinson disease 14 skos:exactMatch UMLS:C2751842 semapv:UnspecifiedMatching MONDO:0013060 autosomal recessive Parkinson disease 14 skos:exactMatch mesh:C567844 semapv:UnspecifiedMatching MONDO:0013061 myofibrillar myopathy 6 skos:exactMatch DOID:0080097 myofibrillar myopathy 6 semapv:UnspecifiedMatching MONDO:0013061 myofibrillar myopathy 6 skos:exactMatch OMIM:612954 myopathy, myofibrillar, 6 semapv:UnspecifiedMatching MONDO:0013061 myofibrillar myopathy 6 skos:exactMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:UnspecifiedMatching MONDO:0013061 myofibrillar myopathy 6 skos:exactMatch mesh:C567843 semapv:UnspecifiedMatching MONDO:0013062 long QT syndrome 12 skos:exactMatch DOID:0110653 long QT syndrome 12 semapv:UnspecifiedMatching MONDO:0013062 long QT syndrome 12 skos:exactMatch OMIM:612955 long qt syndrome 12 semapv:UnspecifiedMatching MONDO:0013062 long QT syndrome 12 skos:exactMatch UMLS:C2751830 semapv:UnspecifiedMatching MONDO:0013062 long QT syndrome 12 skos:exactMatch mesh:C567842 semapv:UnspecifiedMatching MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch OMIM:612956 ventricular fibrillation, paroxysmal familial, 2 semapv:UnspecifiedMatching MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch UMLS:C2751829 semapv:UnspecifiedMatching MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch mesh:C567841 semapv:UnspecifiedMatching MONDO:0013064 multiple synostoses syndrome 3 skos:exactMatch DOID:0081319 multiple synostoses syndrome 3 semapv:UnspecifiedMatching MONDO:0013064 multiple synostoses syndrome 3 skos:exactMatch OMIM:612961 multiple synostoses syndrome 3 semapv:UnspecifiedMatching MONDO:0013064 multiple synostoses syndrome 3 skos:exactMatch UMLS:C2751826 semapv:UnspecifiedMatching MONDO:0013064 multiple synostoses syndrome 3 skos:exactMatch mesh:C567839 semapv:UnspecifiedMatching MONDO:0013065 premature ovarian failure 7 skos:exactMatch DOID:0080864 primary ovarian insufficiency 7 semapv:UnspecifiedMatching MONDO:0013065 premature ovarian failure 7 skos:exactMatch OMIM:612964 premature ovarian failure 7 semapv:UnspecifiedMatching MONDO:0013065 premature ovarian failure 7 skos:exactMatch UMLS:C2751825 semapv:UnspecifiedMatching MONDO:0013065 premature ovarian failure 7 skos:exactMatch mesh:C567838 semapv:UnspecifiedMatching MONDO:0013066 46,XY sex reversal 3 skos:exactMatch DOID:0111772 46,XY sex reversal 3 semapv:UnspecifiedMatching MONDO:0013066 46,XY sex reversal 3 skos:exactMatch OMIM:612965 46,xy sex reversal 3 semapv:UnspecifiedMatching MONDO:0013067 cataract 34 multiple types skos:exactMatch DOID:0110230 cataract 34 multiple types semapv:UnspecifiedMatching MONDO:0013067 cataract 34 multiple types skos:exactMatch OMIM:612968 cataract 34, multiple types semapv:UnspecifiedMatching MONDO:0013067 cataract 34 multiple types skos:exactMatch UMLS:C2751822 semapv:UnspecifiedMatching MONDO:0013067 cataract 34 multiple types skos:exactMatch mesh:C567835 semapv:UnspecifiedMatching MONDO:0013068 age-related hearing impairment 2 skos:exactMatch OMIM:612976 age-related hearing impairment 2 semapv:UnspecifiedMatching MONDO:0013068 age-related hearing impairment 2 skos:exactMatch UMLS:C2751814 semapv:UnspecifiedMatching MONDO:0013068 age-related hearing impairment 2 skos:exactMatch mesh:C567834 semapv:UnspecifiedMatching MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:exactMatch DOID:0111437 optic atrophy 7 semapv:UnspecifiedMatching MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:exactMatch OMIM:612989 optic atrophy 7 with or without auditory neuropathy semapv:UnspecifiedMatching MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:exactMatch Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type semapv:UnspecifiedMatching MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:exactMatch UMLS:C2751812 semapv:UnspecifiedMatching MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:exactMatch mesh:C567833 semapv:UnspecifiedMatching MONDO:0013070 spermatogenic failure 7 skos:exactMatch DOID:0070173 spermatogenic failure 7 semapv:UnspecifiedMatching MONDO:0013070 spermatogenic failure 7 skos:exactMatch OMIM:612997 spermatogenic failure 7 semapv:UnspecifiedMatching MONDO:0013070 spermatogenic failure 7 skos:exactMatch UMLS:C2751811 semapv:UnspecifiedMatching MONDO:0013070 spermatogenic failure 7 skos:exactMatch mesh:C567832 semapv:UnspecifiedMatching MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:exactMatch DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 semapv:UnspecifiedMatching MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:exactMatch OMIM:612998 emery-dreifuss muscular dystrophy 4, autosomal dominant semapv:UnspecifiedMatching MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:exactMatch UMLS:C2751807 semapv:UnspecifiedMatching MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:exactMatch mesh:C567831 semapv:UnspecifiedMatching MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 semapv:UnspecifiedMatching MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant semapv:UnspecifiedMatching MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch UMLS:C2751805 semapv:UnspecifiedMatching MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 semapv:UnspecifiedMatching MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 semapv:UnspecifiedMatching MONDO:0013074 encephalocraniocutaneous lipomatosis skos:exactMatch NCIT:C4701 Encephalocraniocutaneous Lipomatosis semapv:UnspecifiedMatching MONDO:0013074 encephalocraniocutaneous lipomatosis skos:exactMatch OMIM:613001 encephalocraniocutaneous lipomatosis semapv:UnspecifiedMatching MONDO:0013074 encephalocraniocutaneous lipomatosis skos:exactMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:UnspecifiedMatching MONDO:0013074 encephalocraniocutaneous lipomatosis skos:exactMatch SCTID:238905009 semapv:UnspecifiedMatching MONDO:0013074 encephalocraniocutaneous lipomatosis skos:exactMatch UMLS:C0406612 semapv:UnspecifiedMatching MONDO:0013074 encephalocraniocutaneous lipomatosis skos:exactMatch mesh:C535736 semapv:UnspecifiedMatching MONDO:0013076 attention deficit-hyperactivity disorder, susceptibility to, 7 skos:exactMatch OMIM:613003 attention deficit-hyperactivity disorder, susceptibility to, 7 semapv:UnspecifiedMatching MONDO:0013077 Santos syndrome skos:exactMatch OMIM:613005 santos syndrome semapv:UnspecifiedMatching MONDO:0013077 Santos syndrome skos:exactMatch UMLS:C2751698 semapv:UnspecifiedMatching MONDO:0013077 Santos syndrome skos:exactMatch mesh:C567819 semapv:UnspecifiedMatching MONDO:0013078 type 1 diabetes mellitus 24 skos:exactMatch DOID:0110761 type 1 diabetes mellitus 24 semapv:UnspecifiedMatching MONDO:0013078 type 1 diabetes mellitus 24 skos:exactMatch OMIM:613006 iia 1 diabetes mellitus 24 semapv:UnspecifiedMatching MONDO:0013078 type 1 diabetes mellitus 24 skos:exactMatch UMLS:C2751697 semapv:UnspecifiedMatching MONDO:0013078 type 1 diabetes mellitus 24 skos:exactMatch mesh:C567818 semapv:UnspecifiedMatching MONDO:0013079 primary biliary cholangitis 2 skos:exactMatch DOID:0070359 primary biliary cholangitis 2 semapv:UnspecifiedMatching MONDO:0013079 primary biliary cholangitis 2 skos:exactMatch OMIM:613007 biliary cirrhosis, primary, 2 semapv:UnspecifiedMatching MONDO:0013079 primary biliary cholangitis 2 skos:exactMatch UMLS:C2751696 semapv:UnspecifiedMatching MONDO:0013079 primary biliary cholangitis 2 skos:exactMatch mesh:C567817 semapv:UnspecifiedMatching MONDO:0013080 primary biliary cholangitis 3 skos:exactMatch DOID:0070360 primary biliary cholangitis 3 semapv:UnspecifiedMatching MONDO:0013080 primary biliary cholangitis 3 skos:exactMatch OMIM:613008 biliary cirrhosis, primary, 3 semapv:UnspecifiedMatching MONDO:0013080 primary biliary cholangitis 3 skos:exactMatch UMLS:C2751695 semapv:UnspecifiedMatching MONDO:0013080 primary biliary cholangitis 3 skos:exactMatch mesh:C567816 semapv:UnspecifiedMatching MONDO:0013081 lymphoproliferative syndrome 1 skos:exactMatch DOID:0060707 lymphoproliferative syndrome 1 semapv:UnspecifiedMatching MONDO:0013081 lymphoproliferative syndrome 1 skos:exactMatch NCIT:C126344 Lymphoproliferative Syndrome 1 semapv:UnspecifiedMatching MONDO:0013081 lymphoproliferative syndrome 1 skos:exactMatch OMIM:613011 lymphoproliferative syndrome 1 semapv:UnspecifiedMatching MONDO:0013081 lymphoproliferative syndrome 1 skos:exactMatch Orphanet:538963 Combined immunodeficiency due to ITK deficiency semapv:UnspecifiedMatching MONDO:0013081 lymphoproliferative syndrome 1 skos:exactMatch UMLS:C3552634 semapv:UnspecifiedMatching MONDO:0013081 lymphoproliferative syndrome 1 skos:exactMatch mesh:C567815 semapv:UnspecifiedMatching MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:exactMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:UnspecifiedMatching MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:exactMatch UMLS:C5191058 semapv:UnspecifiedMatching MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:exactMatch mesh:C538119 semapv:UnspecifiedMatching MONDO:0013083 neuroblastoma, susceptibility to, 3 skos:exactMatch OMIM:613014 neuroblastoma, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0013084 neuroblastoma, susceptibility to, 4 skos:exactMatch OMIM:613015 neuroblastoma, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0013085 neuroblastoma, susceptibility to, 5 skos:exactMatch OMIM:613016 neuroblastoma, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0013086 neuroblastoma, susceptibility to, 6 skos:exactMatch OMIM:613017 neuroblastoma, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:exactMatch DOID:0080527 bronchiectasis 2 semapv:UnspecifiedMatching MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:exactMatch OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 semapv:UnspecifiedMatching MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:exactMatch UMLS:C2751666 semapv:UnspecifiedMatching MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:exactMatch mesh:C567813 semapv:UnspecifiedMatching MONDO:0013088 follicular lymphoma, susceptibility to, 1 skos:exactMatch OMIM:613024 follicular lymphoma, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0013089 schizophrenia 13 skos:exactMatch DOID:0070089 schizophrenia 13 semapv:UnspecifiedMatching MONDO:0013089 schizophrenia 13 skos:exactMatch OMIM:613025 schizophrenia 13 semapv:UnspecifiedMatching MONDO:0013089 schizophrenia 13 skos:exactMatch UMLS:C2751663 semapv:UnspecifiedMatching MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:exactMatch DOID:0060408 chromosome 19q13.11 deletion syndrome semapv:UnspecifiedMatching MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:exactMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:exactMatch SCTID:719599008 semapv:UnspecifiedMatching MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:exactMatch UMLS:C2751651 semapv:UnspecifiedMatching MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:exactMatch mesh:C567810 semapv:UnspecifiedMatching MONDO:0013091 glycogen storage disease IXc skos:exactMatch DOID:0111043 glycogen storage disease IXc semapv:UnspecifiedMatching MONDO:0013091 glycogen storage disease IXc skos:exactMatch OMIM:613027 glycogen storage disease ixc semapv:UnspecifiedMatching MONDO:0013091 glycogen storage disease IXc skos:exactMatch UMLS:C2751643 semapv:UnspecifiedMatching MONDO:0013091 glycogen storage disease IXc skos:exactMatch mesh:C567809 semapv:UnspecifiedMatching MONDO:0013092 glioma susceptibility 2 skos:exactMatch OMIM:613028 glioma susceptibility 2 semapv:UnspecifiedMatching MONDO:0013093 glioma susceptibility 3 skos:exactMatch OMIM:613029 glioma susceptibility 3 semapv:UnspecifiedMatching MONDO:0013094 glioma susceptibility 5 skos:exactMatch OMIM:613030 glioma susceptibility 5 semapv:UnspecifiedMatching MONDO:0013095 glioma susceptibility 6 skos:exactMatch OMIM:613031 glioma susceptibility 6 semapv:UnspecifiedMatching MONDO:0013095 glioma susceptibility 6 skos:exactMatch UMLS:C2751639 semapv:UnspecifiedMatching MONDO:0013096 glioma susceptibility 7 skos:exactMatch OMIM:613032 glioma susceptibility 7 semapv:UnspecifiedMatching MONDO:0013097 glioma susceptibility 8 skos:exactMatch OMIM:613033 glioma susceptibility 8 semapv:UnspecifiedMatching MONDO:0013097 glioma susceptibility 8 skos:exactMatch UMLS:C2751637 semapv:UnspecifiedMatching MONDO:0013098 noise induced hearing loss skos:exactMatch NCIT:C34664 Noise Induced Hearing Loss semapv:UnspecifiedMatching MONDO:0013098 noise induced hearing loss skos:exactMatch SCTID:73415002 semapv:UnspecifiedMatching MONDO:0013098 noise induced hearing loss skos:exactMatch mesh:D006317 semapv:UnspecifiedMatching MONDO:0013099 combined pituitary hormone deficiencies, genetic form skos:exactMatch OMIMPS:613038 semapv:UnspecifiedMatching MONDO:0013099 combined pituitary hormone deficiencies, genetic form skos:exactMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:UnspecifiedMatching MONDO:0013099 combined pituitary hormone deficiencies, genetic form skos:exactMatch SCTID:718182008 semapv:UnspecifiedMatching MONDO:0013100 atrial fibrillation, familial, 8 skos:exactMatch OMIM:613055 atrial fibrillation, familial, 8 semapv:UnspecifiedMatching MONDO:0013100 atrial fibrillation, familial, 8 skos:exactMatch UMLS:C2751607 semapv:UnspecifiedMatching MONDO:0013100 atrial fibrillation, familial, 8 skos:exactMatch mesh:C567802 semapv:UnspecifiedMatching MONDO:0013101 basal cell carcinoma, susceptibility to, 2 skos:exactMatch OMIM:613058 basal cell carcinoma, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013101 basal cell carcinoma, susceptibility to, 2 skos:exactMatch UMLS:C2751606 semapv:UnspecifiedMatching MONDO:0013102 basal cell carcinoma, susceptibility to, 3 skos:exactMatch OMIM:613059 basal cell carcinoma, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0013102 basal cell carcinoma, susceptibility to, 3 skos:exactMatch UMLS:C2751605 semapv:UnspecifiedMatching MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:exactMatch DOID:0111292 idiopathic generalized epilepsy 10 semapv:UnspecifiedMatching MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:exactMatch OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 semapv:UnspecifiedMatching MONDO:0013104 basal cell carcinoma, susceptibility to, 4 skos:exactMatch OMIM:613061 basal cell carcinoma, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0013104 basal cell carcinoma, susceptibility to, 4 skos:exactMatch UMLS:C2751602 semapv:UnspecifiedMatching MONDO:0013105 basal cell carcinoma, susceptibility to, 5 skos:exactMatch OMIM:613062 basal cell carcinoma, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0013105 basal cell carcinoma, susceptibility to, 5 skos:exactMatch UMLS:C2751601 semapv:UnspecifiedMatching MONDO:0013106 basal cell carcinoma, susceptibility to, 6 skos:exactMatch OMIM:613063 basal cell carcinoma, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0013106 basal cell carcinoma, susceptibility to, 6 skos:exactMatch UMLS:C2751600 semapv:UnspecifiedMatching MONDO:0013107 dermatitis, atopic, 7 skos:exactMatch DOID:0110103 atopic dermatitis 7 semapv:UnspecifiedMatching MONDO:0013107 dermatitis, atopic, 7 skos:exactMatch OMIM:613064 dermatitis, atopic, 7 semapv:UnspecifiedMatching MONDO:0013107 dermatitis, atopic, 7 skos:exactMatch UMLS:C2751599 semapv:UnspecifiedMatching MONDO:0013107 dermatitis, atopic, 7 skos:exactMatch mesh:C567796 semapv:UnspecifiedMatching MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:exactMatch OMIM:613065 leukemia, acute lymphoblastic semapv:UnspecifiedMatching MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:exactMatch UMLS:C2751595 semapv:UnspecifiedMatching MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:exactMatch OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:exactMatch UMLS:C2751593 semapv:UnspecifiedMatching MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch DOID:0050719 cerebral folate receptor alpha deficiency semapv:UnspecifiedMatching MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch OMIM:613068 neurodegeneration due to cerebral folate transport deficiency semapv:UnspecifiedMatching MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency semapv:UnspecifiedMatching MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch SCTID:711403001 semapv:UnspecifiedMatching MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch mesh:C567791 semapv:UnspecifiedMatching MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:exactMatch DOID:0080778 transient infantile liver failure semapv:UnspecifiedMatching MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:exactMatch OMIM:613070 liver failure, infantile, transient semapv:UnspecifiedMatching MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:exactMatch Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins semapv:UnspecifiedMatching MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:exactMatch UMLS:C3278664 semapv:UnspecifiedMatching MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:exactMatch DOID:0080528 bronchiectasis 3 semapv:UnspecifiedMatching MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:exactMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:UnspecifiedMatching MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:exactMatch UMLS:C2751324 semapv:UnspecifiedMatching MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:exactMatch mesh:C567772 semapv:UnspecifiedMatching MONDO:0013113 metaphyseal anadysplasia 2 skos:exactMatch OMIM:613073 metaphyseal anadysplasia 2 semapv:UnspecifiedMatching MONDO:0013113 metaphyseal anadysplasia 2 skos:exactMatch UMLS:C2751322 semapv:UnspecifiedMatching MONDO:0013113 metaphyseal anadysplasia 2 skos:exactMatch mesh:C567771 semapv:UnspecifiedMatching MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:exactMatch DOID:0110576 autosomal dominant nonsyndromic deafness 50 semapv:UnspecifiedMatching MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:exactMatch OMIM:613074 deafness, autosomal dominant 50 semapv:UnspecifiedMatching MONDO:0013115 RIN2 syndrome skos:exactMatch OMIM:613075 macs syndrome semapv:UnspecifiedMatching MONDO:0013115 RIN2 syndrome skos:exactMatch Orphanet:217335 RIN2 syndrome semapv:UnspecifiedMatching MONDO:0013115 RIN2 syndrome skos:exactMatch SCTID:723367005 semapv:UnspecifiedMatching MONDO:0013115 RIN2 syndrome skos:exactMatch UMLS:C2751321 semapv:UnspecifiedMatching MONDO:0013115 RIN2 syndrome skos:exactMatch mesh:C567770 semapv:UnspecifiedMatching MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:exactMatch OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay semapv:UnspecifiedMatching MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:exactMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:UnspecifiedMatching MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:exactMatch UMLS:C2751320 semapv:UnspecifiedMatching MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:exactMatch mesh:C567769 semapv:UnspecifiedMatching MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch DOID:0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 semapv:UnspecifiedMatching MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch OMIM:613077 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 semapv:UnspecifiedMatching MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch UMLS:C2751319 semapv:UnspecifiedMatching MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch mesh:C567768 semapv:UnspecifiedMatching MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:exactMatch NCIT:C153178 Nijmegen Breakage Syndrome-Like Disorder semapv:UnspecifiedMatching MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:exactMatch OMIM:613078 nijmegen breakage syndrome-like disorder semapv:UnspecifiedMatching MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:exactMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:UnspecifiedMatching MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:exactMatch SCTID:766753005 semapv:UnspecifiedMatching MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:exactMatch UMLS:C2751318 semapv:UnspecifiedMatching MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:exactMatch mesh:C567767 semapv:UnspecifiedMatching MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:exactMatch DOID:0110525 autosomal recessive nonsyndromic deafness 77 semapv:UnspecifiedMatching MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:exactMatch OMIM:613079 deafness, autosomal recessive 77 semapv:UnspecifiedMatching MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:exactMatch UMLS:C2746083 semapv:UnspecifiedMatching MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:exactMatch mesh:C567543 semapv:UnspecifiedMatching MONDO:0013120 46,XY sex reversal 5 skos:exactMatch DOID:0111776 46,XY sex reversal 5 semapv:UnspecifiedMatching MONDO:0013120 46,XY sex reversal 5 skos:exactMatch OMIM:613080 46,xy sex reversal 5 semapv:UnspecifiedMatching MONDO:0013120 46,XY sex reversal 5 skos:exactMatch UMLS:C2751317 semapv:UnspecifiedMatching MONDO:0013120 46,XY sex reversal 5 skos:exactMatch mesh:C567766 semapv:UnspecifiedMatching MONDO:0013121 glaucoma 3, primary congenital, C skos:exactMatch OMIM:613085 glaucoma 3, primary congenital, c semapv:UnspecifiedMatching MONDO:0013121 glaucoma 3, primary congenital, C skos:exactMatch UMLS:C3888011 semapv:UnspecifiedMatching MONDO:0013122 glaucoma 3, primary congenital, D skos:exactMatch OMIM:613086 glaucoma 3, primary congenital, d semapv:UnspecifiedMatching MONDO:0013122 glaucoma 3, primary congenital, D skos:exactMatch UMLS:C2751316 semapv:UnspecifiedMatching MONDO:0013122 glaucoma 3, primary congenital, D skos:exactMatch mesh:C567765 semapv:UnspecifiedMatching MONDO:0013123 atrial septal defect 6 skos:exactMatch DOID:0110111 atrial heart septal defect 6 semapv:UnspecifiedMatching MONDO:0013123 atrial septal defect 6 skos:exactMatch OMIM:613087 atrial septal defect 6 semapv:UnspecifiedMatching MONDO:0013123 atrial septal defect 6 skos:exactMatch UMLS:C2751315 semapv:UnspecifiedMatching MONDO:0013123 atrial septal defect 6 skos:exactMatch mesh:C567764 semapv:UnspecifiedMatching MONDO:0013124 pelvic organ prolapse, susceptibility to, 2 skos:exactMatch OMIM:613088 pelvic organ prolapse, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013125 CLAPO syndrome skos:exactMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:UnspecifiedMatching MONDO:0013125 CLAPO syndrome skos:exactMatch Orphanet:168984 CLAPO syndrome semapv:UnspecifiedMatching MONDO:0013125 CLAPO syndrome skos:exactMatch SCTID:717765001 semapv:UnspecifiedMatching MONDO:0013125 CLAPO syndrome skos:exactMatch UMLS:C2751313 semapv:UnspecifiedMatching MONDO:0013125 CLAPO syndrome skos:exactMatch mesh:C567763 semapv:UnspecifiedMatching MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch DOID:0050549 Saldino-Noonan syndrome semapv:UnspecifiedMatching MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch DOID:0110087 asphyxiating thoracic dystrophy 3 semapv:UnspecifiedMatching MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch NCIT:C163755 Short-Rib Thoracic Dysplasia 3 with or without Polydactyly semapv:UnspecifiedMatching MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch OMIM:613091 short-rib thoracic dysplasia 3 with or without polydactyly semapv:UnspecifiedMatching MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type semapv:UnspecifiedMatching MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:UnspecifiedMatching MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch SCTID:254051008 semapv:UnspecifiedMatching MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch UMLS:C0036069 semapv:UnspecifiedMatching MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch mesh:C537602 semapv:UnspecifiedMatching MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:exactMatch OMIM:613092 tubulointerstitial kidney disease, autosomal dominant, 4 semapv:UnspecifiedMatching MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:exactMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:UnspecifiedMatching MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:exactMatch SCTID:721840000 semapv:UnspecifiedMatching MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:exactMatch mesh:C567760 semapv:UnspecifiedMatching MONDO:0013129 cone dystrophy 4 skos:exactMatch NCIT:C164226 Achromatopsia 5 semapv:UnspecifiedMatching MONDO:0013129 cone dystrophy 4 skos:exactMatch OMIM:613093 cone dystrophy 4 semapv:UnspecifiedMatching MONDO:0013129 cone dystrophy 4 skos:exactMatch mesh:C567758 semapv:UnspecifiedMatching MONDO:0013130 isolated microphthalmia 4 skos:exactMatch DOID:0060836 isolated microphthalmia 4 semapv:UnspecifiedMatching MONDO:0013130 isolated microphthalmia 4 skos:exactMatch OMIM:613094 microphthalmia, isolated 4 semapv:UnspecifiedMatching MONDO:0013130 isolated microphthalmia 4 skos:exactMatch UMLS:C2751307 semapv:UnspecifiedMatching MONDO:0013130 isolated microphthalmia 4 skos:exactMatch mesh:C567757 semapv:UnspecifiedMatching MONDO:0013131 polycystic kidney disease 2 skos:exactMatch DOID:0110859 polycystic kidney disease 2 semapv:UnspecifiedMatching MONDO:0013131 polycystic kidney disease 2 skos:exactMatch NCIT:C123166 Autosomal Dominant Polycystic Kidney Disease Type 2 semapv:UnspecifiedMatching MONDO:0013131 polycystic kidney disease 2 skos:exactMatch OMIM:613095 polycystic kidney disease 2 with or without polycystic liver disease semapv:UnspecifiedMatching MONDO:0013131 polycystic kidney disease 2 skos:exactMatch SCTID:253879006 semapv:UnspecifiedMatching MONDO:0013131 polycystic kidney disease 2 skos:exactMatch UMLS:C2751306 semapv:UnspecifiedMatching MONDO:0013132 hereditary spastic paraplegia 36 skos:exactMatch DOID:0110787 hereditary spastic paraplegia 36 semapv:UnspecifiedMatching MONDO:0013132 hereditary spastic paraplegia 36 skos:exactMatch OMIM:613096 spastic paraplegia 36, autosomal dominant semapv:UnspecifiedMatching MONDO:0013132 hereditary spastic paraplegia 36 skos:exactMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:UnspecifiedMatching MONDO:0013132 hereditary spastic paraplegia 36 skos:exactMatch SCTID:723819007 semapv:UnspecifiedMatching MONDO:0013132 hereditary spastic paraplegia 36 skos:exactMatch UMLS:C2936879 semapv:UnspecifiedMatching MONDO:0013132 hereditary spastic paraplegia 36 skos:exactMatch mesh:C567930 semapv:UnspecifiedMatching MONDO:0013133 melanoma, cutaneous malignant, susceptibility to, 5 skos:exactMatch OMIM:613099 melanoma, cutaneous malignant, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0013134 glaucoma 1, open angle, O skos:exactMatch OMIM:613100 glaucoma 1, open angle, o semapv:UnspecifiedMatching MONDO:0013134 glaucoma 1, open angle, O skos:exactMatch UMLS:C2751294 semapv:UnspecifiedMatching MONDO:0013134 glaucoma 1, open angle, O skos:exactMatch mesh:C567753 semapv:UnspecifiedMatching MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:exactMatch DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 semapv:UnspecifiedMatching MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:exactMatch OMIM:613101 hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease semapv:UnspecifiedMatching MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:exactMatch UMLS:C2751293 semapv:UnspecifiedMatching MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:exactMatch mesh:C567752 semapv:UnspecifiedMatching MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:exactMatch OMIM:613102 hypotrichosis and recurrent skin vesicles semapv:UnspecifiedMatching MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:exactMatch Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles semapv:UnspecifiedMatching MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:exactMatch SCTID:724350009 semapv:UnspecifiedMatching MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:exactMatch UMLS:C2751292 semapv:UnspecifiedMatching MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:exactMatch mesh:C567751 semapv:UnspecifiedMatching MONDO:0013137 choroidal dystrophy, central areolar 2 skos:exactMatch OMIM:613105 choroidal dystrophy, central areolar 2 semapv:UnspecifiedMatching MONDO:0013137 choroidal dystrophy, central areolar 2 skos:exactMatch UMLS:C2751290 semapv:UnspecifiedMatching MONDO:0013137 choroidal dystrophy, central areolar 2 skos:exactMatch mesh:C567750 semapv:UnspecifiedMatching MONDO:0013138 vertigo, benign recurrent, 2 skos:exactMatch OMIM:613106 vertigo, benign recurrent, 2 semapv:UnspecifiedMatching MONDO:0013138 vertigo, benign recurrent, 2 skos:exactMatch UMLS:C2751289 semapv:UnspecifiedMatching MONDO:0013138 vertigo, benign recurrent, 2 skos:exactMatch mesh:C567749 semapv:UnspecifiedMatching MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch DOID:0112131 severe congenital neutropenia 2 semapv:UnspecifiedMatching MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch OMIM:613107 neutropenia, severe congenital, 2, autosomal dominant semapv:UnspecifiedMatching MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch UMLS:C2751288 semapv:UnspecifiedMatching MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch mesh:C567748 semapv:UnspecifiedMatching MONDO:0013140 candidiasis, familial, 4 skos:exactMatch OMIM:613108 candidiasis, familial, 4 semapv:UnspecifiedMatching MONDO:0013140 candidiasis, familial, 4 skos:exactMatch SCTID:235073000 semapv:UnspecifiedMatching MONDO:0013140 candidiasis, familial, 4 skos:exactMatch UMLS:C0341024 semapv:UnspecifiedMatching MONDO:0013142 neuropathy, hereditary sensory and autonomic, type 2B skos:exactMatch DOID:0070150 hereditary sensory and autonomic neuropathy type 2B semapv:UnspecifiedMatching MONDO:0013142 neuropathy, hereditary sensory and autonomic, type 2B skos:exactMatch OMIM:613115 neuropathy, hereditary sensory and autonomic, iia 2b semapv:UnspecifiedMatching MONDO:0013142 neuropathy, hereditary sensory and autonomic, type 2B skos:exactMatch UMLS:C2751092 semapv:UnspecifiedMatching MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch DOID:0111903 thrombophilia due to HRG deficiency semapv:UnspecifiedMatching MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch OMIM:613116 thrombophilia due to histidine-rich glycoprotein deficiency semapv:UnspecifiedMatching MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency semapv:UnspecifiedMatching MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch mesh:C567737 semapv:UnspecifiedMatching MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch DOID:3755 antithrombin III deficiency semapv:UnspecifiedMatching MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch OMIM:613118 antithrombin 3 deficiency semapv:UnspecifiedMatching MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency semapv:UnspecifiedMatching MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch SCTID:36351005 semapv:UnspecifiedMatching MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch UMLS:C0272375 semapv:UnspecifiedMatching MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch mesh:D020152 semapv:UnspecifiedMatching MONDO:0013145 Brugada syndrome 6 skos:exactMatch DOID:0110223 Brugada syndrome 6 semapv:UnspecifiedMatching MONDO:0013145 Brugada syndrome 6 skos:exactMatch OMIM:613119 brugada syndrome 6 semapv:UnspecifiedMatching MONDO:0013145 Brugada syndrome 6 skos:exactMatch UMLS:C2751089 semapv:UnspecifiedMatching MONDO:0013145 Brugada syndrome 6 skos:exactMatch mesh:C567735 semapv:UnspecifiedMatching MONDO:0013146 Brugada syndrome 7 skos:exactMatch DOID:0110224 Brugada syndrome 7 semapv:UnspecifiedMatching MONDO:0013146 Brugada syndrome 7 skos:exactMatch OMIM:613120 brugada syndrome 7 semapv:UnspecifiedMatching MONDO:0013146 Brugada syndrome 7 skos:exactMatch UMLS:C2751088 semapv:UnspecifiedMatching MONDO:0013146 Brugada syndrome 7 skos:exactMatch mesh:C567734 semapv:UnspecifiedMatching MONDO:0013147 dilated cardiomyopathy 1CC skos:exactMatch DOID:0110424 dilated cardiomyopathy 1CC semapv:UnspecifiedMatching MONDO:0013147 dilated cardiomyopathy 1CC skos:exactMatch OMIM:613122 cardiomyopathy, dilated, 1cc semapv:UnspecifiedMatching MONDO:0013147 dilated cardiomyopathy 1CC skos:exactMatch UMLS:C2751084 semapv:UnspecifiedMatching MONDO:0013147 dilated cardiomyopathy 1CC skos:exactMatch mesh:C567733 semapv:UnspecifiedMatching MONDO:0013148 Brugada syndrome 8 skos:exactMatch DOID:0110225 Brugada syndrome 8 semapv:UnspecifiedMatching MONDO:0013148 Brugada syndrome 8 skos:exactMatch OMIM:613123 brugada syndrome 8 semapv:UnspecifiedMatching MONDO:0013148 Brugada syndrome 8 skos:exactMatch UMLS:C2751083 semapv:UnspecifiedMatching MONDO:0013148 Brugada syndrome 8 skos:exactMatch mesh:C567732 semapv:UnspecifiedMatching MONDO:0013149 hydrops fetalis, nonimmune, with gracile bones and dysmorphic features skos:exactMatch OMIM:613124 hydrops fetalis, nonimmune, with gracile bones and dysmorphism semapv:UnspecifiedMatching MONDO:0013149 hydrops fetalis, nonimmune, with gracile bones and dysmorphic features skos:exactMatch UMLS:C5193233 semapv:UnspecifiedMatching MONDO:0013149 hydrops fetalis, nonimmune, with gracile bones and dysmorphic features skos:exactMatch mesh:C567731 semapv:UnspecifiedMatching MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch OMIMPS:613135 semapv:UnspecifiedMatching MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:UnspecifiedMatching MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch UMLS:C2751067 semapv:UnspecifiedMatching MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch mesh:C567730 semapv:UnspecifiedMatching MONDO:0013151 choroidal dystrophy, central areolar, 3 skos:exactMatch OMIM:613144 choroidal dystrophy, central areolar, 3 semapv:UnspecifiedMatching MONDO:0013151 choroidal dystrophy, central areolar, 3 skos:exactMatch UMLS:C2751055 semapv:UnspecifiedMatching MONDO:0013151 choroidal dystrophy, central areolar, 3 skos:exactMatch mesh:C567729 semapv:UnspecifiedMatching MONDO:0013152 systemic lupus erythematosus, susceptibility to, 14 skos:exactMatch OMIM:613145 systemic lupus erythematosus, susceptibility to, 14 semapv:UnspecifiedMatching MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch DOID:0110899 inflammatory bowel disease 28 semapv:UnspecifiedMatching MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch NCIT:C164676 Inflammatory Bowel Disease 28 semapv:UnspecifiedMatching MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch OMIM:613148 inflammatory bowel disease 28, autosomal recessive semapv:UnspecifiedMatching MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch UMLS:C2751053 semapv:UnspecifiedMatching MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch mesh:C567728 semapv:UnspecifiedMatching MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:exactMatch DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 semapv:UnspecifiedMatching MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:exactMatch NCIT:C126742 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 2 semapv:UnspecifiedMatching MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:exactMatch OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 2 semapv:UnspecifiedMatching MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:exactMatch UMLS:C3150411 semapv:UnspecifiedMatching MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:exactMatch DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 semapv:UnspecifiedMatching MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:exactMatch OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 semapv:UnspecifiedMatching MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:exactMatch UMLS:C3150412 semapv:UnspecifiedMatching MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:exactMatch DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 semapv:UnspecifiedMatching MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:exactMatch OMIM:613152 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4 semapv:UnspecifiedMatching MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:exactMatch UMLS:C2751052 semapv:UnspecifiedMatching MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:exactMatch DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 semapv:UnspecifiedMatching MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:exactMatch OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 semapv:UnspecifiedMatching MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:exactMatch UMLS:C3150413 semapv:UnspecifiedMatching MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:exactMatch DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6 semapv:UnspecifiedMatching MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:exactMatch NCIT:C126743 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 6 semapv:UnspecifiedMatching MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:exactMatch OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 semapv:UnspecifiedMatching MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:exactMatch UMLS:C3150414 semapv:UnspecifiedMatching MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:exactMatch DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 semapv:UnspecifiedMatching MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:exactMatch OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 semapv:UnspecifiedMatching MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:exactMatch UMLS:C5436962 semapv:UnspecifiedMatching MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:exactMatch DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 semapv:UnspecifiedMatching MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:exactMatch NCIT:C126690 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B2 semapv:UnspecifiedMatching MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:exactMatch OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 semapv:UnspecifiedMatching MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:exactMatch UMLS:C3150416 semapv:UnspecifiedMatching MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:exactMatch DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O semapv:UnspecifiedMatching MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:exactMatch OMIM:613157 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 3 semapv:UnspecifiedMatching MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:exactMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:UnspecifiedMatching MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:exactMatch UMLS:C3150417 semapv:UnspecifiedMatching MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:exactMatch DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N semapv:UnspecifiedMatching MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:exactMatch OMIM:613158 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 2 semapv:UnspecifiedMatching MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:exactMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:UnspecifiedMatching MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:exactMatch UMLS:C3150418 semapv:UnspecifiedMatching MONDO:0013163 nephronophthisis-like nephropathy 1 skos:exactMatch DOID:0111117 nephronophthisis-like nephropathy 1 semapv:UnspecifiedMatching MONDO:0013163 nephronophthisis-like nephropathy 1 skos:exactMatch OMIM:613159 nephronophthisis-like nephropathy 1 semapv:UnspecifiedMatching MONDO:0013163 nephronophthisis-like nephropathy 1 skos:exactMatch UMLS:C3150419 semapv:UnspecifiedMatching MONDO:0013164 beta-ureidopropionase deficiency skos:exactMatch OMIM:613161 beta-ureidopropionase deficiency semapv:UnspecifiedMatching MONDO:0013164 beta-ureidopropionase deficiency skos:exactMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:UnspecifiedMatching MONDO:0013164 beta-ureidopropionase deficiency skos:exactMatch SCTID:124511000 semapv:UnspecifiedMatching MONDO:0013164 beta-ureidopropionase deficiency skos:exactMatch UMLS:C1291512 semapv:UnspecifiedMatching MONDO:0013164 beta-ureidopropionase deficiency skos:exactMatch mesh:C563210 semapv:UnspecifiedMatching MONDO:0013165 hereditary spastic paraplegia 45 skos:exactMatch DOID:0110797 hereditary spastic paraplegia 45 semapv:UnspecifiedMatching MONDO:0013165 hereditary spastic paraplegia 45 skos:exactMatch OMIM:613162 spastic paraplegia 45, autosomal recessive semapv:UnspecifiedMatching MONDO:0013165 hereditary spastic paraplegia 45 skos:exactMatch Orphanet:320396 Autosomal recessive spastic paraplegia type 45 semapv:UnspecifiedMatching MONDO:0013165 hereditary spastic paraplegia 45 skos:exactMatch SCTID:765753004 semapv:UnspecifiedMatching MONDO:0013165 hereditary spastic paraplegia 45 skos:exactMatch UMLS:C3888209 semapv:UnspecifiedMatching MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch DOID:0060174 GABA aminotransferase deficiency semapv:UnspecifiedMatching MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch OMIM:613163 gaba-transaminase deficiency semapv:UnspecifiedMatching MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:UnspecifiedMatching MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch SCTID:237941007 semapv:UnspecifiedMatching MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch UMLS:C0342708 semapv:UnspecifiedMatching MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch mesh:C535407 semapv:UnspecifiedMatching MONDO:0013167 parkinson disease 16 skos:exactMatch OMIM:613164 parkinson disease 16 semapv:UnspecifiedMatching MONDO:0013167 parkinson disease 16 skos:exactMatch UMLS:C2751012 semapv:UnspecifiedMatching MONDO:0013167 parkinson disease 16 skos:exactMatch mesh:C567726 semapv:UnspecifiedMatching MONDO:0013168 dilated cardiomyopathy 1DD skos:exactMatch DOID:0110447 dilated cardiomyopathy 1DD semapv:UnspecifiedMatching MONDO:0013168 dilated cardiomyopathy 1DD skos:exactMatch OMIM:613172 cardiomyopathy, dilated, 1dd semapv:UnspecifiedMatching MONDO:0013168 dilated cardiomyopathy 1DD skos:exactMatch UMLS:C2750995 semapv:UnspecifiedMatching MONDO:0013168 dilated cardiomyopathy 1DD skos:exactMatch mesh:C567725 semapv:UnspecifiedMatching MONDO:0013169 chromosome 5p13 duplication syndrome skos:exactMatch DOID:0060460 chromosome 5p13 duplication syndrome semapv:UnspecifiedMatching MONDO:0013169 chromosome 5p13 duplication syndrome skos:exactMatch OMIM:613174 chromosome 5p13 duplication syndrome semapv:UnspecifiedMatching MONDO:0013169 chromosome 5p13 duplication syndrome skos:exactMatch Orphanet:329802 5p13 microduplication syndrome semapv:UnspecifiedMatching MONDO:0013169 chromosome 5p13 duplication syndrome skos:exactMatch UMLS:C2750805 semapv:UnspecifiedMatching MONDO:0013169 chromosome 5p13 duplication syndrome skos:exactMatch mesh:C567717 semapv:UnspecifiedMatching MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:exactMatch DOID:0070139 autosomal recessive cutis laxa type IC semapv:UnspecifiedMatching MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:exactMatch OMIM:613177 cutis laxa, autosomal recessive, iia 1c semapv:UnspecifiedMatching MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:exactMatch Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:UnspecifiedMatching MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:exactMatch UMLS:C2750804 semapv:UnspecifiedMatching MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:exactMatch mesh:C567716 semapv:UnspecifiedMatching MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch DOID:5813 purine nucleoside phosphorylase deficiency semapv:UnspecifiedMatching MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch NCIT:C176817 Purine Nucleoside Phosphorylase Deficiency semapv:UnspecifiedMatching MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch NCIT:C3963 Purine-Nucleoside Phosphorylase Deficiency semapv:UnspecifiedMatching MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch OMIM:613179 purine nucleoside phosphorylase deficiency semapv:UnspecifiedMatching MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch Orphanet:760 Purine nucleoside phosphorylase deficiency semapv:UnspecifiedMatching MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch SCTID:60743005 semapv:UnspecifiedMatching MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch UMLS:C0268125 semapv:UnspecifiedMatching MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch mesh:C562587 semapv:UnspecifiedMatching MONDO:0013172 polymicrogyria with optic nerve hypoplasia skos:exactMatch Orphanet:250972 Polymicrogyria with optic nerve hypoplasia semapv:UnspecifiedMatching MONDO:0013172 polymicrogyria with optic nerve hypoplasia skos:exactMatch UMLS:C2750798 semapv:UnspecifiedMatching MONDO:0013172 polymicrogyria with optic nerve hypoplasia skos:exactMatch mesh:C567715 semapv:UnspecifiedMatching MONDO:0013173 intellectual disability, autosomal recessive 13 skos:exactMatch DOID:0081098 autosomal recessive intellectual developmental disorder 13 semapv:UnspecifiedMatching MONDO:0013173 intellectual disability, autosomal recessive 13 skos:exactMatch OMIM:613192 intellectual developmental disorder, autosomal recessive 13 semapv:UnspecifiedMatching MONDO:0013173 intellectual disability, autosomal recessive 13 skos:exactMatch UMLS:C2750791 semapv:UnspecifiedMatching MONDO:0013173 intellectual disability, autosomal recessive 13 skos:exactMatch mesh:C567714 semapv:UnspecifiedMatching MONDO:0013174 primary ciliary dyskinesia 13 skos:exactMatch DOID:0110618 primary ciliary dyskinesia 13 semapv:UnspecifiedMatching MONDO:0013174 primary ciliary dyskinesia 13 skos:exactMatch OMIM:613193 ciliary dyskinesia, primary, 13 semapv:UnspecifiedMatching MONDO:0013174 primary ciliary dyskinesia 13 skos:exactMatch UMLS:C2750790 semapv:UnspecifiedMatching MONDO:0013174 primary ciliary dyskinesia 13 skos:exactMatch mesh:C567713 semapv:UnspecifiedMatching MONDO:0013175 retinitis pigmentosa 50 skos:exactMatch DOID:0110396 retinitis pigmentosa 50 semapv:UnspecifiedMatching MONDO:0013175 retinitis pigmentosa 50 skos:exactMatch OMIM:613194 retinitis pigmentosa 50 semapv:UnspecifiedMatching MONDO:0013175 retinitis pigmentosa 50 skos:exactMatch mesh:C567712 semapv:UnspecifiedMatching MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:exactMatch OMIM:613195 weill-marchesani syndrome 4 semapv:UnspecifiedMatching MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:exactMatch Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome semapv:UnspecifiedMatching MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:exactMatch UMLS:C2750787 semapv:UnspecifiedMatching MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:exactMatch mesh:C567710 semapv:UnspecifiedMatching MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:exactMatch DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency semapv:UnspecifiedMatching MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:exactMatch OMIM:613204 muscular dystrophy, congenital, due to integrin alpha-7 deficiency semapv:UnspecifiedMatching MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:exactMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:UnspecifiedMatching MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:exactMatch UMLS:C2750786 semapv:UnspecifiedMatching MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:exactMatch mesh:C567709 semapv:UnspecifiedMatching MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch DOID:0110640 congenital muscular dystrophy due to LMNA mutation semapv:UnspecifiedMatching MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch NCIT:C148369 Muscular Dystrophy Congenital, LMNA-Related semapv:UnspecifiedMatching MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch OMIM:613205 muscular dystrophy, congenital, lmna-related semapv:UnspecifiedMatching MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:UnspecifiedMatching MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch UMLS:C2750785 semapv:UnspecifiedMatching MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch mesh:C567708 semapv:UnspecifiedMatching MONDO:0013179 hereditary spastic paraplegia 44 skos:exactMatch DOID:0110796 hereditary spastic paraplegia 44 semapv:UnspecifiedMatching MONDO:0013179 hereditary spastic paraplegia 44 skos:exactMatch OMIM:613206 spastic paraplegia 44, autosomal recessive semapv:UnspecifiedMatching MONDO:0013179 hereditary spastic paraplegia 44 skos:exactMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:UnspecifiedMatching MONDO:0013179 hereditary spastic paraplegia 44 skos:exactMatch SCTID:723821002 semapv:UnspecifiedMatching MONDO:0013179 hereditary spastic paraplegia 44 skos:exactMatch UMLS:C2750784 semapv:UnspecifiedMatching MONDO:0013179 hereditary spastic paraplegia 44 skos:exactMatch mesh:C567707 semapv:UnspecifiedMatching MONDO:0013180 asthma-related traits, susceptibility to, 8 skos:exactMatch OMIM:613207 asthma-related traits, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:exactMatch DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 semapv:UnspecifiedMatching MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:exactMatch OMIM:613211 amelogenesis imperfecta, hypomaturation type, iia3 semapv:UnspecifiedMatching MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:exactMatch UMLS:C2750771 semapv:UnspecifiedMatching MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:exactMatch mesh:C567706 semapv:UnspecifiedMatching MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:exactMatch DOID:0060432 chromosome 17p13.3 duplication syndrome semapv:UnspecifiedMatching MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:exactMatch OMIM:613215 chromosome 17p13.3, centromeric, duplication syndrome semapv:UnspecifiedMatching MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:exactMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:UnspecifiedMatching MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:exactMatch SCTID:719582007 semapv:UnspecifiedMatching MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:exactMatch UMLS:C3808300 semapv:UnspecifiedMatching MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:exactMatch mesh:C567705 semapv:UnspecifiedMatching MONDO:0013183 congenital stationary night blindness 1C skos:exactMatch DOID:0110867 congenital stationary night blindness 1C semapv:UnspecifiedMatching MONDO:0013183 congenital stationary night blindness 1C skos:exactMatch OMIM:613216 night blindness, congenital stationary, iia 1c semapv:UnspecifiedMatching MONDO:0013183 congenital stationary night blindness 1C skos:exactMatch UMLS:C2750747 semapv:UnspecifiedMatching MONDO:0013183 congenital stationary night blindness 1C skos:exactMatch mesh:C567704 semapv:UnspecifiedMatching MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:exactMatch DOID:0060776 congenital diarrhea 5 with tufting enteropathy semapv:UnspecifiedMatching MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:exactMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:UnspecifiedMatching MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:exactMatch Orphanet:92050 Congenital tufting enteropathy semapv:UnspecifiedMatching MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:exactMatch SCTID:715669000 semapv:UnspecifiedMatching MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:exactMatch UMLS:C2750737 semapv:UnspecifiedMatching MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:exactMatch mesh:C567703 semapv:UnspecifiedMatching MONDO:0013185 leprosy, susceptibility to, 5 skos:exactMatch OMIM:613223 leprosy, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0013186 Noonan syndrome 6 skos:exactMatch DOID:0060584 Noonan syndrome 6 semapv:UnspecifiedMatching MONDO:0013186 Noonan syndrome 6 skos:exactMatch NCIT:C176934 Noonan Syndrome 6 semapv:UnspecifiedMatching MONDO:0013186 Noonan syndrome 6 skos:exactMatch OMIM:613224 noonan syndrome 6 semapv:UnspecifiedMatching MONDO:0013186 Noonan syndrome 6 skos:exactMatch UMLS:C2750732 semapv:UnspecifiedMatching MONDO:0013186 Noonan syndrome 6 skos:exactMatch mesh:C548084 semapv:UnspecifiedMatching MONDO:0013187 factor XIII, A subunit, deficiency of skos:exactMatch OMIM:613225 factor xiii, a subunit, deficiency of semapv:UnspecifiedMatching MONDO:0013187 factor XIII, A subunit, deficiency of skos:exactMatch SCTID:439455002 semapv:UnspecifiedMatching MONDO:0013187 factor XIII, A subunit, deficiency of skos:exactMatch UMLS:C2750514 semapv:UnspecifiedMatching MONDO:0013187 factor XIII, A subunit, deficiency of skos:exactMatch mesh:C567691 semapv:UnspecifiedMatching MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:exactMatch OMIM:613227 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:UnspecifiedMatching MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:exactMatch UMLS:C2750509 semapv:UnspecifiedMatching MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:exactMatch mesh:C567690 semapv:UnspecifiedMatching MONDO:0013189 trichotillomania skos:exactMatch DOID:0050587 trichotillomania semapv:UnspecifiedMatching MONDO:0013189 trichotillomania skos:exactMatch ICD10CM:F63.3 Trichotillomania semapv:UnspecifiedMatching MONDO:0013189 trichotillomania skos:exactMatch NCIT:C94336 Trichotillomania semapv:UnspecifiedMatching MONDO:0013189 trichotillomania skos:exactMatch OMIM:613229 trichotillomania semapv:UnspecifiedMatching MONDO:0013189 trichotillomania skos:exactMatch SCTID:17155009 semapv:UnspecifiedMatching MONDO:0013189 trichotillomania skos:exactMatch mesh:D014256 semapv:UnspecifiedMatching MONDO:0013190 factor XIII, b subunit, deficiency of skos:exactMatch OMIM:613235 factor xiii, B subunit, deficiency of semapv:UnspecifiedMatching MONDO:0013190 factor XIII, b subunit, deficiency of skos:exactMatch mesh:C567688 semapv:UnspecifiedMatching MONDO:0013191 focal segmental glomerulosclerosis 5 skos:exactMatch DOID:0111130 focal segmental glomerulosclerosis 5 semapv:UnspecifiedMatching MONDO:0013191 focal segmental glomerulosclerosis 5 skos:exactMatch OMIM:613237 focal segmental glomerulosclerosis 5 semapv:UnspecifiedMatching MONDO:0013191 focal segmental glomerulosclerosis 5 skos:exactMatch UMLS:C2750475 semapv:UnspecifiedMatching MONDO:0013191 focal segmental glomerulosclerosis 5 skos:exactMatch mesh:C567687 semapv:UnspecifiedMatching MONDO:0013192 spondyloarthropathy, susceptibility to, 3 skos:exactMatch DOID:0080605 ankylosing spondylitis 3 semapv:UnspecifiedMatching MONDO:0013192 spondyloarthropathy, susceptibility to, 3 skos:exactMatch OMIM:613238 spondyloarthropathy, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 skos:exactMatch OMIM:613239 thyrotoxic periodic paralysis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013194 Pseudopili annulati skos:exactMatch OMIM:613241 pseudopili annulati semapv:UnspecifiedMatching MONDO:0013195 hypertrophic cardiomyopathy 13 skos:exactMatch DOID:0110319 hypertrophic cardiomyopathy 13 semapv:UnspecifiedMatching MONDO:0013195 hypertrophic cardiomyopathy 13 skos:exactMatch OMIM:613243 cardiomyopathy, familial hypertrophic, 13 semapv:UnspecifiedMatching MONDO:0013195 hypertrophic cardiomyopathy 13 skos:exactMatch UMLS:C2750472 semapv:UnspecifiedMatching MONDO:0013195 hypertrophic cardiomyopathy 13 skos:exactMatch mesh:C567686 semapv:UnspecifiedMatching MONDO:0013196 Lynch syndrome 8 skos:exactMatch DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 semapv:UnspecifiedMatching MONDO:0013196 Lynch syndrome 8 skos:exactMatch OMIM:613244 lynch syndrome 8 semapv:UnspecifiedMatching MONDO:0013196 Lynch syndrome 8 skos:exactMatch UMLS:C2750471 semapv:UnspecifiedMatching MONDO:0013196 Lynch syndrome 8 skos:exactMatch mesh:C567685 semapv:UnspecifiedMatching MONDO:0013197 hypertrophic cardiomyopathy 14 skos:exactMatch DOID:0110320 hypertrophic cardiomyopathy 14 semapv:UnspecifiedMatching MONDO:0013197 hypertrophic cardiomyopathy 14 skos:exactMatch OMIM:613251 cardiomyopathy, familial hypertrophic, 14 semapv:UnspecifiedMatching MONDO:0013197 hypertrophic cardiomyopathy 14 skos:exactMatch UMLS:C2750467 semapv:UnspecifiedMatching MONDO:0013197 hypertrophic cardiomyopathy 14 skos:exactMatch mesh:C567684 semapv:UnspecifiedMatching MONDO:0013198 dilated cardiomyopathy 1EE skos:exactMatch DOID:0110453 dilated cardiomyopathy 1EE semapv:UnspecifiedMatching MONDO:0013198 dilated cardiomyopathy 1EE skos:exactMatch OMIM:613252 cardiomyopathy, dilated, 1ee semapv:UnspecifiedMatching MONDO:0013198 dilated cardiomyopathy 1EE skos:exactMatch UMLS:C2750466 semapv:UnspecifiedMatching MONDO:0013198 dilated cardiomyopathy 1EE skos:exactMatch mesh:C567683 semapv:UnspecifiedMatching MONDO:0013199 tuberous sclerosis 2 skos:exactMatch DOID:0080325 tuberous sclerosis 2 semapv:UnspecifiedMatching MONDO:0013199 tuberous sclerosis 2 skos:exactMatch NCIT:C75331 Tuberous Sclerosis 2 semapv:UnspecifiedMatching MONDO:0013199 tuberous sclerosis 2 skos:exactMatch OMIM:613254 tuberous sclerosis 2 semapv:UnspecifiedMatching MONDO:0013199 tuberous sclerosis 2 skos:exactMatch mesh:C566021 semapv:UnspecifiedMatching MONDO:0013200 hypertrophic cardiomyopathy 15 skos:exactMatch DOID:0110321 hypertrophic cardiomyopathy 15 semapv:UnspecifiedMatching MONDO:0013200 hypertrophic cardiomyopathy 15 skos:exactMatch OMIM:613255 cardiomyopathy, familial hypertrophic, 15 semapv:UnspecifiedMatching MONDO:0013200 hypertrophic cardiomyopathy 15 skos:exactMatch UMLS:C2750459 semapv:UnspecifiedMatching MONDO:0013200 hypertrophic cardiomyopathy 15 skos:exactMatch mesh:C567681 semapv:UnspecifiedMatching MONDO:0013201 Waardenburg syndrome type 4B skos:exactMatch DOID:0110954 Waardenburg syndrome type 4B semapv:UnspecifiedMatching MONDO:0013201 Waardenburg syndrome type 4B skos:exactMatch OMIM:613265 waardenburg syndrome, iia 4b semapv:UnspecifiedMatching MONDO:0013201 Waardenburg syndrome type 4B skos:exactMatch UMLS:C2750457 semapv:UnspecifiedMatching MONDO:0013201 Waardenburg syndrome type 4B skos:exactMatch mesh:C567680 semapv:UnspecifiedMatching MONDO:0013202 Waardenburg syndrome type 4C skos:exactMatch DOID:0110955 Waardenburg syndrome type 4C semapv:UnspecifiedMatching MONDO:0013202 Waardenburg syndrome type 4C skos:exactMatch OMIM:613266 waardenburg syndrome, iia 4c semapv:UnspecifiedMatching MONDO:0013202 Waardenburg syndrome type 4C skos:exactMatch UMLS:C2750452 semapv:UnspecifiedMatching MONDO:0013202 Waardenburg syndrome type 4C skos:exactMatch mesh:C567679 semapv:UnspecifiedMatching MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:exactMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:UnspecifiedMatching MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:exactMatch UMLS:C2750451 semapv:UnspecifiedMatching MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:exactMatch mesh:C567678 semapv:UnspecifiedMatching MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:exactMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:UnspecifiedMatching MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:exactMatch UMLS:C2750450 semapv:UnspecifiedMatching MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:exactMatch mesh:C567677 semapv:UnspecifiedMatching MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:exactMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:UnspecifiedMatching MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:exactMatch UMLS:C2750449 semapv:UnspecifiedMatching MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:exactMatch mesh:C567676 semapv:UnspecifiedMatching MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:exactMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:UnspecifiedMatching MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:exactMatch UMLS:C2750448 semapv:UnspecifiedMatching MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:exactMatch mesh:C567675 semapv:UnspecifiedMatching MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:exactMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:UnspecifiedMatching MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:exactMatch UMLS:C2750447 semapv:UnspecifiedMatching MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:exactMatch mesh:C567674 semapv:UnspecifiedMatching MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:exactMatch DOID:0080536 hypermanganesemia with dystonia 1 semapv:UnspecifiedMatching MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:exactMatch OMIM:613280 hypermanganesemia with dystonia 1 semapv:UnspecifiedMatching MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:exactMatch Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome semapv:UnspecifiedMatching MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:exactMatch SCTID:702377007 semapv:UnspecifiedMatching MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:exactMatch UMLS:C2750442 semapv:UnspecifiedMatching MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:exactMatch mesh:C548016 semapv:UnspecifiedMatching MONDO:0013209 metabolic dysfunction-associated steatotic liver disease skos:exactMatch DOID:0080208 metabolic dysfunction-associated steatotic liver disease semapv:UnspecifiedMatching MONDO:0013209 metabolic dysfunction-associated steatotic liver disease skos:exactMatch DOID:0080546 non-alcoholic fatty liver semapv:UnspecifiedMatching MONDO:0013209 metabolic dysfunction-associated steatotic liver disease skos:exactMatch NCIT:C84444 Nonalcoholic Fatty Liver Disease semapv:UnspecifiedMatching MONDO:0013209 metabolic dysfunction-associated steatotic liver disease skos:exactMatch SCTID:197315008 semapv:UnspecifiedMatching MONDO:0013209 metabolic dysfunction-associated steatotic liver disease skos:exactMatch mesh:D065626 semapv:UnspecifiedMatching MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:exactMatch DOID:0110483 autosomal recessive nonsyndromic deafness 25 semapv:UnspecifiedMatching MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:exactMatch OMIM:613285 deafness, autosomal recessive 25 semapv:UnspecifiedMatching MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:exactMatch UMLS:C1414017 semapv:UnspecifiedMatching MONDO:0013211 dilated cardiomyopathy 1FF skos:exactMatch DOID:0110459 dilated cardiomyopathy 1FF semapv:UnspecifiedMatching MONDO:0013211 dilated cardiomyopathy 1FF skos:exactMatch OMIM:613286 cardiomyopathy, dilated, 1ff semapv:UnspecifiedMatching MONDO:0013211 dilated cardiomyopathy 1FF skos:exactMatch UMLS:C2750091 semapv:UnspecifiedMatching MONDO:0013211 dilated cardiomyopathy 1FF skos:exactMatch mesh:C567654 semapv:UnspecifiedMatching MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:exactMatch DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N semapv:UnspecifiedMatching MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:exactMatch OMIM:613287 charcot-marie-tooth disease, axonal, iia 2n semapv:UnspecifiedMatching MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:exactMatch Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N semapv:UnspecifiedMatching MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:exactMatch SCTID:719515001 semapv:UnspecifiedMatching MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:exactMatch UMLS:C2750090 semapv:UnspecifiedMatching MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:exactMatch mesh:C567653 semapv:UnspecifiedMatching MONDO:0013213 hearing loss, cisplatin-induced, susceptibility to skos:exactMatch OMIM:613290 hearing loss, cisplatin-induced, susceptibility to semapv:UnspecifiedMatching MONDO:0013214 bile acid malabsorption, primary, 1 skos:exactMatch OMIM:613291 bile acid malabsorption, primary, 1 semapv:UnspecifiedMatching MONDO:0013214 bile acid malabsorption, primary, 1 skos:exactMatch UMLS:C5561934 semapv:UnspecifiedMatching MONDO:0013214 bile acid malabsorption, primary, 1 skos:exactMatch mesh:C567652 semapv:UnspecifiedMatching MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:exactMatch DOID:0110526 autosomal recessive nonsyndromic deafness 79 semapv:UnspecifiedMatching MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:exactMatch OMIM:613307 deafness, autosomal recessive 79 semapv:UnspecifiedMatching MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:exactMatch UMLS:C2750082 semapv:UnspecifiedMatching MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:exactMatch mesh:C567651 semapv:UnspecifiedMatching MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch DOID:0111884 Diamond-Blackfan anemia 9 semapv:UnspecifiedMatching MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch NCIT:C176918 Diamond-Blackfan Anemia 9 semapv:UnspecifiedMatching MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch OMIM:613308 diamond-blackfan anemia 9 semapv:UnspecifiedMatching MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch UMLS:C2750081 semapv:UnspecifiedMatching MONDO:0013216 Diamond-Blackfan anemia 9 skos:exactMatch mesh:C567650 semapv:UnspecifiedMatching MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch DOID:0111888 Diamond-Blackfan anemia 10 semapv:UnspecifiedMatching MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch NCIT:C176919 Diamond-Blackfan Anemia 10 semapv:UnspecifiedMatching MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch OMIM:613309 diamond-blackfan anemia 10 semapv:UnspecifiedMatching MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch UMLS:C2750080 semapv:UnspecifiedMatching MONDO:0013217 Diamond-Blackfan anemia 10 skos:exactMatch mesh:C567649 semapv:UnspecifiedMatching MONDO:0013218 exudative vitreoretinopathy 5 skos:exactMatch DOID:0111408 exudative vitreoretinopathy 5 semapv:UnspecifiedMatching MONDO:0013218 exudative vitreoretinopathy 5 skos:exactMatch OMIM:613310 exudative vitreoretinopathy 5 semapv:UnspecifiedMatching MONDO:0013218 exudative vitreoretinopathy 5 skos:exactMatch UMLS:C2750079 semapv:UnspecifiedMatching MONDO:0013218 exudative vitreoretinopathy 5 skos:exactMatch mesh:C567648 semapv:UnspecifiedMatching MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 skos:exactMatch OMIM:613312 hypophosphatemic rickets, autosomal recessive, 2 semapv:UnspecifiedMatching MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 skos:exactMatch UMLS:C2750078 semapv:UnspecifiedMatching MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 skos:exactMatch mesh:C567647 semapv:UnspecifiedMatching MONDO:0013220 hemochromatosis type 2B skos:exactMatch DOID:0111032 hemochromatosis type 2B semapv:UnspecifiedMatching MONDO:0013220 hemochromatosis type 2B skos:exactMatch OMIM:613313 hemochromatosis, iia 2b semapv:UnspecifiedMatching MONDO:0013220 hemochromatosis type 2B skos:exactMatch UMLS:C1865616 semapv:UnspecifiedMatching MONDO:0013220 hemochromatosis type 2B skos:exactMatch mesh:C566557 semapv:UnspecifiedMatching MONDO:0013221 Miyoshi muscular dystrophy 2 skos:exactMatch DOID:0070200 Miyoshi muscular dystrophy 2 semapv:UnspecifiedMatching MONDO:0013221 Miyoshi muscular dystrophy 2 skos:exactMatch OMIM:613318 miyoshi muscular dystrophy 2 semapv:UnspecifiedMatching MONDO:0013221 Miyoshi muscular dystrophy 2 skos:exactMatch UMLS:C2750077 semapv:UnspecifiedMatching MONDO:0013221 Miyoshi muscular dystrophy 2 skos:exactMatch mesh:C567646 semapv:UnspecifiedMatching MONDO:0013222 Miyoshi muscular dystrophy 3 skos:exactMatch DOID:0070201 Miyoshi muscular dystrophy 3 semapv:UnspecifiedMatching MONDO:0013222 Miyoshi muscular dystrophy 3 skos:exactMatch OMIM:613319 miyoshi muscular dystrophy 3 semapv:UnspecifiedMatching MONDO:0013222 Miyoshi muscular dystrophy 3 skos:exactMatch Orphanet:399096 Distal anoctaminopathy semapv:UnspecifiedMatching MONDO:0013222 Miyoshi muscular dystrophy 3 skos:exactMatch UMLS:C2750076 semapv:UnspecifiedMatching MONDO:0013222 Miyoshi muscular dystrophy 3 skos:exactMatch mesh:C567645 semapv:UnspecifiedMatching MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:exactMatch DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type semapv:UnspecifiedMatching MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:exactMatch OMIM:613320 spondylometaphyseal dysplasia, megarbane-dagher-melki iia semapv:UnspecifiedMatching MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:exactMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:UnspecifiedMatching MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:exactMatch UMLS:C2750075 semapv:UnspecifiedMatching MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:exactMatch mesh:C567644 semapv:UnspecifiedMatching MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch NCIT:C178394 Rhabdoid Tumor Predisposition Syndrome 2 semapv:UnspecifiedMatching MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch OMIM:613325 rhabdoid tumor predisposition syndrome 2 semapv:UnspecifiedMatching MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch UMLS:C2750074 semapv:UnspecifiedMatching MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch mesh:C567643 semapv:UnspecifiedMatching MONDO:0013225 congenital generalized lipodystrophy type 4 skos:exactMatch DOID:0111138 congenital generalized lipodystrophy type 4 semapv:UnspecifiedMatching MONDO:0013225 congenital generalized lipodystrophy type 4 skos:exactMatch OMIM:613327 lipodystrophy, congenital generalized, iia 4 semapv:UnspecifiedMatching MONDO:0013225 congenital generalized lipodystrophy type 4 skos:exactMatch UMLS:C2750069 semapv:UnspecifiedMatching MONDO:0013225 congenital generalized lipodystrophy type 4 skos:exactMatch mesh:C567642 semapv:UnspecifiedMatching MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:exactMatch OMIM:613328 roifman-chitayat syndrome semapv:UnspecifiedMatching MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:exactMatch Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies semapv:UnspecifiedMatching MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:exactMatch UMLS:C2750068 semapv:UnspecifiedMatching MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:exactMatch mesh:C567641 semapv:UnspecifiedMatching MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch NCIT:C133884 Plasminogen Activator Inhibitor-1 Deficiency semapv:UnspecifiedMatching MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch OMIM:613329 plasminogen activator inhibitor-1 deficiency semapv:UnspecifiedMatching MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency semapv:UnspecifiedMatching MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch SCTID:717407006 semapv:UnspecifiedMatching MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch mesh:C567640 semapv:UnspecifiedMatching MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:exactMatch OMIM:613330 spondylo-megaepiphyseal-metaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:exactMatch Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:UnspecifiedMatching MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:exactMatch UMLS:C2750066 semapv:UnspecifiedMatching MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:exactMatch mesh:C567639 semapv:UnspecifiedMatching MONDO:0013229 hot water reflex epilepsy skos:exactMatch DOID:0081104 hot water epilepsy semapv:UnspecifiedMatching MONDO:0013229 hot water reflex epilepsy skos:exactMatch OMIMPS:613339 semapv:UnspecifiedMatching MONDO:0013229 hot water reflex epilepsy skos:exactMatch Orphanet:166412 Hot water reflex epilepsy semapv:UnspecifiedMatching MONDO:0013229 hot water reflex epilepsy skos:exactMatch SCTID:230454005 semapv:UnspecifiedMatching MONDO:0013229 hot water reflex epilepsy skos:exactMatch UMLS:C4706506 semapv:UnspecifiedMatching MONDO:0013230 epilepsy, hot water, 2 skos:exactMatch DOID:0081107 hot water epilepsy 2 semapv:UnspecifiedMatching MONDO:0013230 epilepsy, hot water, 2 skos:exactMatch OMIM:613340 epilepsy, hot water, 2 semapv:UnspecifiedMatching MONDO:0013230 epilepsy, hot water, 2 skos:exactMatch UMLS:C3150536 semapv:UnspecifiedMatching MONDO:0013231 Leber congenital amaurosis 14 skos:exactMatch DOID:0110188 Leber congenital amaurosis 14 semapv:UnspecifiedMatching MONDO:0013231 Leber congenital amaurosis 14 skos:exactMatch OMIM:613341 leber congenital amaurosis 14 semapv:UnspecifiedMatching MONDO:0013231 Leber congenital amaurosis 14 skos:exactMatch UMLS:C2750063 semapv:UnspecifiedMatching MONDO:0013231 Leber congenital amaurosis 14 skos:exactMatch mesh:C567636 semapv:UnspecifiedMatching MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:exactMatch OMIM:613342 mseleni joint disease semapv:UnspecifiedMatching MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:exactMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:UnspecifiedMatching MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:exactMatch SCTID:715470008 semapv:UnspecifiedMatching MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:exactMatch UMLS:C2931420 semapv:UnspecifiedMatching MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:exactMatch mesh:C537086 semapv:UnspecifiedMatching MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:exactMatch OMIM:613343 handigodu joint disease semapv:UnspecifiedMatching MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:exactMatch Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type semapv:UnspecifiedMatching MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:exactMatch UMLS:C3150545 semapv:UnspecifiedMatching MONDO:0013234 hypokalemic periodic paralysis, type 2 skos:exactMatch OMIM:613345 hypokalemic periodic paralysis, iia 2 semapv:UnspecifiedMatching MONDO:0013234 hypokalemic periodic paralysis, type 2 skos:exactMatch UMLS:C2750061 semapv:UnspecifiedMatching MONDO:0013234 hypokalemic periodic paralysis, type 2 skos:exactMatch mesh:C567635 semapv:UnspecifiedMatching MONDO:0013235 pancreatic cancer, susceptibility to, 2 skos:exactMatch OMIM:613347 pancreatic cancer, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013236 pancreatic cancer, susceptibility to, 3 skos:exactMatch OMIM:613348 pancreatic cancer, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0013237 susceptibility to mononeuropathy of the median nerve, mild skos:exactMatch OMIM:613353 mononeuropathy of the median nerve, mild semapv:UnspecifiedMatching MONDO:0013237 susceptibility to mononeuropathy of the median nerve, mild skos:exactMatch UMLS:C3150596 semapv:UnspecifiedMatching MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:exactMatch DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:exactMatch OMIM:613355 chromosome 17q23.1-q23.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:exactMatch Orphanet:261279 17q23.1q23.2 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:exactMatch SCTID:719584008 semapv:UnspecifiedMatching MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:exactMatch UMLS:C3150607 semapv:UnspecifiedMatching MONDO:0013239 hereditary spastic paraplegia 41 skos:exactMatch DOID:0110793 hereditary spastic paraplegia 41 semapv:UnspecifiedMatching MONDO:0013239 hereditary spastic paraplegia 41 skos:exactMatch OMIM:613364 spastic paraplegia 41, autosomal dominant semapv:UnspecifiedMatching MONDO:0013239 hereditary spastic paraplegia 41 skos:exactMatch Orphanet:320355 Autosomal dominant spastic paraplegia type 41 semapv:UnspecifiedMatching MONDO:0013239 hereditary spastic paraplegia 41 skos:exactMatch SCTID:763069002 semapv:UnspecifiedMatching MONDO:0013239 hereditary spastic paraplegia 41 skos:exactMatch UMLS:C3888208 semapv:UnspecifiedMatching MONDO:0013240 maturity-onset diabetes of the young type 10 skos:exactMatch DOID:0111108 maturity-onset diabetes of the young type 10 semapv:UnspecifiedMatching MONDO:0013240 maturity-onset diabetes of the young type 10 skos:exactMatch OMIM:613370 maturity-onset diabetes of the young, iia 10 semapv:UnspecifiedMatching MONDO:0013240 maturity-onset diabetes of the young type 10 skos:exactMatch SCTID:609577006 semapv:UnspecifiedMatching MONDO:0013240 maturity-onset diabetes of the young type 10 skos:exactMatch UMLS:C3150617 semapv:UnspecifiedMatching MONDO:0013241 spinocerebellar ataxia type 30 skos:exactMatch DOID:0050979 spinocerebellar ataxia type 30 semapv:UnspecifiedMatching MONDO:0013241 spinocerebellar ataxia type 30 skos:exactMatch OMIM:613371 spinocerebellar ataxia 30 semapv:UnspecifiedMatching MONDO:0013241 spinocerebellar ataxia type 30 skos:exactMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:UnspecifiedMatching MONDO:0013241 spinocerebellar ataxia type 30 skos:exactMatch SCTID:719253007 semapv:UnspecifiedMatching MONDO:0013241 spinocerebellar ataxia type 30 skos:exactMatch UMLS:C2936793 semapv:UnspecifiedMatching MONDO:0013241 spinocerebellar ataxia type 30 skos:exactMatch mesh:C575214 semapv:UnspecifiedMatching MONDO:0013242 maturity-onset diabetes of the young type 11 skos:exactMatch DOID:0111109 maturity-onset diabetes of the young type 11 semapv:UnspecifiedMatching MONDO:0013242 maturity-onset diabetes of the young type 11 skos:exactMatch OMIM:613375 maturity-onset diabetes of the young, iia 11 semapv:UnspecifiedMatching MONDO:0013242 maturity-onset diabetes of the young type 11 skos:exactMatch SCTID:609578001 semapv:UnspecifiedMatching MONDO:0013242 maturity-onset diabetes of the young type 11 skos:exactMatch UMLS:C3150618 semapv:UnspecifiedMatching MONDO:0013243 neuronopathy, distal hereditary motor, type 2C skos:exactMatch DOID:0111209 distal hereditary motor neuronopathy type 2C semapv:UnspecifiedMatching MONDO:0013243 neuronopathy, distal hereditary motor, type 2C skos:exactMatch OMIM:613376 neuronopathy, distal hereditary motor, autosomal dominant 4 semapv:UnspecifiedMatching MONDO:0013243 neuronopathy, distal hereditary motor, type 2C skos:exactMatch UMLS:C3150619 semapv:UnspecifiedMatching MONDO:0013244 brachydactyly type E2 skos:exactMatch DOID:0110976 brachydactyly type E2 semapv:UnspecifiedMatching MONDO:0013244 brachydactyly type E2 skos:exactMatch OMIM:613382 brachydactyly, iia e2 semapv:UnspecifiedMatching MONDO:0013244 brachydactyly type E2 skos:exactMatch UMLS:C3150644 semapv:UnspecifiedMatching MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:exactMatch OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism semapv:UnspecifiedMatching MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:exactMatch Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:UnspecifiedMatching MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:exactMatch UMLS:C3150649 semapv:UnspecifiedMatching MONDO:0013246 fatty liver disease, nonalcoholic, susceptibility to, 2 skos:exactMatch OMIM:613387 fatty liver disease, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013247 Fanconi renotubular syndrome 2 skos:exactMatch DOID:0080758 Fanconi renotubular syndrome 2 semapv:UnspecifiedMatching MONDO:0013247 Fanconi renotubular syndrome 2 skos:exactMatch OMIM:613388 fanconi renotubular syndrome 2 semapv:UnspecifiedMatching MONDO:0013247 Fanconi renotubular syndrome 2 skos:exactMatch UMLS:C3150652 semapv:UnspecifiedMatching MONDO:0013248 Fanconi anemia complementation group O skos:exactMatch DOID:0111096 Fanconi anemia complementation group O semapv:UnspecifiedMatching MONDO:0013248 Fanconi anemia complementation group O skos:exactMatch OMIM:613390 fanconi anemia, complementation group o semapv:UnspecifiedMatching MONDO:0013248 Fanconi anemia complementation group O skos:exactMatch UMLS:C3150653 semapv:UnspecifiedMatching MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:exactMatch DOID:0110529 autosomal recessive nonsyndromic deafness 84A semapv:UnspecifiedMatching MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:exactMatch OMIM:613391 deafness, autosomal recessive 84a semapv:UnspecifiedMatching MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:exactMatch UMLS:C3150654 semapv:UnspecifiedMatching MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:exactMatch DOID:0110531 autosomal recessive nonsyndromic deafness 85 semapv:UnspecifiedMatching MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:exactMatch OMIM:613392 deafness, autosomal recessive 85 semapv:UnspecifiedMatching MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:exactMatch UMLS:C3160740 semapv:UnspecifiedMatching MONDO:0013251 Birbeck granule deficiency skos:exactMatch OMIM:613393 birbeck granule deficiency semapv:UnspecifiedMatching MONDO:0013251 Birbeck granule deficiency skos:exactMatch UMLS:C3150657 semapv:UnspecifiedMatching MONDO:0013252 Warsaw breakage syndrome skos:exactMatch DOID:0060535 Warsaw breakage syndrome semapv:UnspecifiedMatching MONDO:0013252 Warsaw breakage syndrome skos:exactMatch NCIT:C164675 Warsaw Breakage Syndrome semapv:UnspecifiedMatching MONDO:0013252 Warsaw breakage syndrome skos:exactMatch OMIM:613398 warsaw breakage syndrome semapv:UnspecifiedMatching MONDO:0013252 Warsaw breakage syndrome skos:exactMatch Orphanet:280558 Warsaw breakage syndrome semapv:UnspecifiedMatching MONDO:0013252 Warsaw breakage syndrome skos:exactMatch SCTID:702829000 semapv:UnspecifiedMatching MONDO:0013252 Warsaw breakage syndrome skos:exactMatch UMLS:C3150658 semapv:UnspecifiedMatching MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:exactMatch OMIM:613399 breast-ovarian cancer, familial, susceptibility to, 3 semapv:UnspecifiedMatching MONDO:0013254 microcephaly, seizures, and developmental delay skos:exactMatch DOID:0080457 microcephaly, seizures, and developmental delay semapv:UnspecifiedMatching MONDO:0013254 microcephaly, seizures, and developmental delay skos:exactMatch OMIM:613402 microcephaly, seizures, and developmental delay semapv:UnspecifiedMatching MONDO:0013254 microcephaly, seizures, and developmental delay skos:exactMatch UMLS:C3150667 semapv:UnspecifiedMatching MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 skos:exactMatch DOID:0111354 arthrogryposis, renal dysfunction, and cholestasis 2 semapv:UnspecifiedMatching MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 skos:exactMatch OMIM:613404 arthrogryposis, renal dysfunction, and cholestasis 2 semapv:UnspecifiedMatching MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 skos:exactMatch UMLS:C3150672 semapv:UnspecifiedMatching MONDO:0013256 chromosome 15q24 deletion syndrome skos:exactMatch DOID:0060395 chromosome 15q24 deletion syndrome semapv:UnspecifiedMatching MONDO:0013256 chromosome 15q24 deletion syndrome skos:exactMatch OMIM:613406 witteveen-kolk syndrome semapv:UnspecifiedMatching MONDO:0013256 chromosome 15q24 deletion syndrome skos:exactMatch Orphanet:94065 15q24 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013256 chromosome 15q24 deletion syndrome skos:exactMatch SCTID:699308002 semapv:UnspecifiedMatching MONDO:0013256 chromosome 15q24 deletion syndrome skos:exactMatch UMLS:C3150674 semapv:UnspecifiedMatching MONDO:0013256 chromosome 15q24 deletion syndrome skos:exactMatch mesh:C579849 semapv:UnspecifiedMatching MONDO:0013257 leprosy, susceptibility to, 6 skos:exactMatch OMIM:613407 leprosy, susceptibility to, 6 semapv:UnspecifiedMatching MONDO:0013258 autism, susceptibility to, 16 skos:exactMatch OMIM:613410 autism, susceptibility to, 16 semapv:UnspecifiedMatching MONDO:0013259 Oguchi disease-2 skos:exactMatch DOID:0110713 Oguchi disease-2 semapv:UnspecifiedMatching MONDO:0013259 Oguchi disease-2 skos:exactMatch OMIM:613411 oguchi disease 2 semapv:UnspecifiedMatching MONDO:0013259 Oguchi disease-2 skos:exactMatch UMLS:C3150678 semapv:UnspecifiedMatching MONDO:0013260 esophagitis, eosinophilic, 2 skos:exactMatch OMIM:613412 esophagitis, eosinophilic, 2 semapv:UnspecifiedMatching MONDO:0013260 esophagitis, eosinophilic, 2 skos:exactMatch UMLS:C3150679 semapv:UnspecifiedMatching MONDO:0013261 dilated cardiomyopathy 1R skos:exactMatch DOID:0110456 dilated cardiomyopathy 1R semapv:UnspecifiedMatching MONDO:0013261 dilated cardiomyopathy 1R skos:exactMatch OMIM:613424 cardiomyopathy, dilated, 1r semapv:UnspecifiedMatching MONDO:0013262 dilated cardiomyopathy 1S skos:exactMatch DOID:0110454 dilated cardiomyopathy 1S semapv:UnspecifiedMatching MONDO:0013262 dilated cardiomyopathy 1S skos:exactMatch OMIM:613426 cardiomyopathy, dilated, 1s semapv:UnspecifiedMatching MONDO:0013262 dilated cardiomyopathy 1S skos:exactMatch mesh:C563538 semapv:UnspecifiedMatching MONDO:0013263 retinitis pigmentosa 54 skos:exactMatch DOID:0110364 retinitis pigmentosa 54 semapv:UnspecifiedMatching MONDO:0013263 retinitis pigmentosa 54 skos:exactMatch OMIM:613428 retinitis pigmentosa 54 semapv:UnspecifiedMatching MONDO:0013263 retinitis pigmentosa 54 skos:exactMatch UMLS:C3150691 semapv:UnspecifiedMatching MONDO:0013264 amyotrophic lateral sclerosis type 12 skos:exactMatch DOID:0060203 amyotrophic lateral sclerosis type 12 semapv:UnspecifiedMatching MONDO:0013264 amyotrophic lateral sclerosis type 12 skos:exactMatch OMIM:613435 amyotrophic lateral sclerosis 12 with or without frontotemporal dementia semapv:UnspecifiedMatching MONDO:0013264 amyotrophic lateral sclerosis type 12 skos:exactMatch UMLS:C3150692 semapv:UnspecifiedMatching MONDO:0013265 autism, susceptibility to, 17 skos:exactMatch OMIM:613436 autism, susceptibility to, 17 semapv:UnspecifiedMatching MONDO:0013266 intellectual disability, autosomal dominant 20 skos:exactMatch DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language semapv:UnspecifiedMatching MONDO:0013266 intellectual disability, autosomal dominant 20 skos:exactMatch OMIM:613443 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language semapv:UnspecifiedMatching MONDO:0013266 intellectual disability, autosomal dominant 20 skos:exactMatch UMLS:C3150700 semapv:UnspecifiedMatching MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:exactMatch DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb semapv:UnspecifiedMatching MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:exactMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:UnspecifiedMatching MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:exactMatch Orphanet:261222 Distal 16p11.2 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:exactMatch SCTID:733521003 semapv:UnspecifiedMatching MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:exactMatch UMLS:C3150701 semapv:UnspecifiedMatching MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:exactMatch DOID:0081046 frontonasal dysplasia 2 semapv:UnspecifiedMatching MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:exactMatch OMIM:613451 frontonasal dysplasia 2 semapv:UnspecifiedMatching MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:exactMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:UnspecifiedMatching MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:exactMatch SCTID:725029001 semapv:UnspecifiedMatching MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:exactMatch UMLS:C3150703 semapv:UnspecifiedMatching MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:exactMatch DOID:0110536 autosomal recessive nonsyndromic deafness 91 semapv:UnspecifiedMatching MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:exactMatch OMIM:613453 deafness, autosomal recessive 91 semapv:UnspecifiedMatching MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:exactMatch UMLS:C3150704 semapv:UnspecifiedMatching MONDO:0013270 Rett syndrome, congenital variant skos:exactMatch NCIT:C176903 Rett Syndrome, Congenital Variant semapv:UnspecifiedMatching MONDO:0013270 Rett syndrome, congenital variant skos:exactMatch OMIM:613454 rett syndrome, congenital variant semapv:UnspecifiedMatching MONDO:0013270 Rett syndrome, congenital variant skos:exactMatch UMLS:C3150705 semapv:UnspecifiedMatching MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:exactMatch DOID:0081047 frontonasal dysplasia 3 semapv:UnspecifiedMatching MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:exactMatch OMIM:613456 frontonasal dysplasia 3 semapv:UnspecifiedMatching MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:exactMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:UnspecifiedMatching MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:exactMatch UMLS:C3150706 semapv:UnspecifiedMatching MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:exactMatch DOID:0060392 chromosome 14q11-q22 deletion syndrome semapv:UnspecifiedMatching MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:exactMatch OMIM:613457 chromosome 14q11-q22 deletion syndrome semapv:UnspecifiedMatching MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:exactMatch Orphanet:261120 14q11.2 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:exactMatch SCTID:719047001 semapv:UnspecifiedMatching MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:exactMatch UMLS:C3150707 semapv:UnspecifiedMatching MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:exactMatch DOID:0060431 chromosome 16p13.3 duplication syndrome semapv:UnspecifiedMatching MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:exactMatch OMIM:613458 chromosome 16p13.3 duplication syndrome semapv:UnspecifiedMatching MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:exactMatch Orphanet:96078 16p13.3 microduplication syndrome semapv:UnspecifiedMatching MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:exactMatch SCTID:733473000 semapv:UnspecifiedMatching MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:exactMatch UMLS:C3150708 semapv:UnspecifiedMatching MONDO:0013274 retinitis pigmentosa 51 skos:exactMatch DOID:0110398 retinitis pigmentosa 51 semapv:UnspecifiedMatching MONDO:0013274 retinitis pigmentosa 51 skos:exactMatch OMIM:613464 retinitis pigmentosa 51 semapv:UnspecifiedMatching MONDO:0013274 retinitis pigmentosa 51 skos:exactMatch UMLS:C3150715 semapv:UnspecifiedMatching MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:exactMatch OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency semapv:UnspecifiedMatching MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:exactMatch Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency semapv:UnspecifiedMatching MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:exactMatch UMLS:C3150730 semapv:UnspecifiedMatching MONDO:0013276 Reynolds syndrome skos:exactMatch OMIM:613471 reynolds syndrome semapv:UnspecifiedMatching MONDO:0013276 Reynolds syndrome skos:exactMatch Orphanet:779 Reynolds syndrome semapv:UnspecifiedMatching MONDO:0013276 Reynolds syndrome skos:exactMatch SCTID:715401008 semapv:UnspecifiedMatching MONDO:0013276 Reynolds syndrome skos:exactMatch UMLS:C0748397 semapv:UnspecifiedMatching MONDO:0013277 developmental and epileptic encephalopathy, 5 skos:exactMatch DOID:0080438 developmental and epileptic encephalopathy 5 semapv:UnspecifiedMatching MONDO:0013277 developmental and epileptic encephalopathy, 5 skos:exactMatch OMIM:613477 developmental and epileptic encephalopathy 5 semapv:UnspecifiedMatching MONDO:0013277 developmental and epileptic encephalopathy, 5 skos:exactMatch UMLS:C3150731 semapv:UnspecifiedMatching MONDO:0013278 lymphatic malformation 3 skos:exactMatch DOID:0070208 hereditary lymphedema IC semapv:UnspecifiedMatching MONDO:0013278 lymphatic malformation 3 skos:exactMatch OMIM:613480 lymphatic malformation 3 semapv:UnspecifiedMatching MONDO:0013279 long QT syndrome 13 skos:exactMatch DOID:0110654 long QT syndrome 13 semapv:UnspecifiedMatching MONDO:0013279 long QT syndrome 13 skos:exactMatch OMIM:613485 long qt syndrome 13 semapv:UnspecifiedMatching MONDO:0013279 long QT syndrome 13 skos:exactMatch UMLS:C3150733 semapv:UnspecifiedMatching MONDO:0013280 myxoid liposarcoma skos:exactMatch DOID:5363 myxoid liposarcoma semapv:UnspecifiedMatching MONDO:0013280 myxoid liposarcoma skos:exactMatch DOID:5709 mixed-type liposarcoma semapv:UnspecifiedMatching MONDO:0013280 myxoid liposarcoma skos:exactMatch NCIT:C27781 Myxoid Liposarcoma semapv:UnspecifiedMatching MONDO:0013280 myxoid liposarcoma skos:exactMatch OMIM:613488 myxoid liposarcoma semapv:UnspecifiedMatching MONDO:0013280 myxoid liposarcoma skos:exactMatch SCTID:404069006 semapv:UnspecifiedMatching MONDO:0013280 myxoid liposarcoma skos:exactMatch mesh:D018208 semapv:UnspecifiedMatching MONDO:0013281 COG4-congenital disorder of glycosylation skos:exactMatch DOID:0070262 congenital disorder of glycosylation type IIj semapv:UnspecifiedMatching MONDO:0013281 COG4-congenital disorder of glycosylation skos:exactMatch OMIM:613489 congenital disorder of glycosylation, iia iij semapv:UnspecifiedMatching MONDO:0013281 COG4-congenital disorder of glycosylation skos:exactMatch Orphanet:263501 COG4-CDG semapv:UnspecifiedMatching MONDO:0013281 COG4-congenital disorder of glycosylation skos:exactMatch SCTID:718751000 semapv:UnspecifiedMatching MONDO:0013281 COG4-congenital disorder of glycosylation skos:exactMatch UMLS:C4303552 semapv:UnspecifiedMatching MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch DOID:13372 alpha 1-antitrypsin deficiency semapv:UnspecifiedMatching MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch ICD10CM:E88.01 Alpha-1-antitrypsin deficiency semapv:UnspecifiedMatching MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch NCIT:C84397 Alpha-1 Antitrypsin Deficiency semapv:UnspecifiedMatching MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:UnspecifiedMatching MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:UnspecifiedMatching MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch SCTID:30188007 semapv:UnspecifiedMatching MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch UMLS:C0221757 semapv:UnspecifiedMatching MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch mesh:D019896 semapv:UnspecifiedMatching MONDO:0013283 immunodeficiency, common variable, 3 skos:exactMatch DOID:0081146 common variable immunodeficiency 3 semapv:UnspecifiedMatching MONDO:0013283 immunodeficiency, common variable, 3 skos:exactMatch OMIM:613493 immunodeficiency, common variable, 3 semapv:UnspecifiedMatching MONDO:0013283 immunodeficiency, common variable, 3 skos:exactMatch UMLS:C3150738 semapv:UnspecifiedMatching MONDO:0013284 immunodeficiency, common variable, 4 skos:exactMatch DOID:0081147 common variable immunodeficiency 4 semapv:UnspecifiedMatching MONDO:0013284 immunodeficiency, common variable, 4 skos:exactMatch OMIM:613494 immunodeficiency, common variable, 4 semapv:UnspecifiedMatching MONDO:0013284 immunodeficiency, common variable, 4 skos:exactMatch UMLS:C3150739 semapv:UnspecifiedMatching MONDO:0013285 immunodeficiency, common variable, 5 skos:exactMatch DOID:0081148 common variable immunodeficiency 5 semapv:UnspecifiedMatching MONDO:0013285 immunodeficiency, common variable, 5 skos:exactMatch OMIM:613495 immunodeficiency, common variable, 5 semapv:UnspecifiedMatching MONDO:0013285 immunodeficiency, common variable, 5 skos:exactMatch UMLS:C3150740 semapv:UnspecifiedMatching MONDO:0013286 immunodeficiency, common variable, 6 skos:exactMatch DOID:0081149 common variable immunodeficiency 6 semapv:UnspecifiedMatching MONDO:0013286 immunodeficiency, common variable, 6 skos:exactMatch OMIM:613496 immunodeficiency, common variable, 6 semapv:UnspecifiedMatching MONDO:0013286 immunodeficiency, common variable, 6 skos:exactMatch UMLS:C3150741 semapv:UnspecifiedMatching MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:exactMatch DOID:0060024 lambda 5 deficiency semapv:UnspecifiedMatching MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:exactMatch DOID:0081135 agammaglobulinemia 2 semapv:UnspecifiedMatching MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:exactMatch OMIM:613500 agammaglobulinemia 2, autosomal recessive semapv:UnspecifiedMatching MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:exactMatch UMLS:C3150750 semapv:UnspecifiedMatching MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:exactMatch DOID:0081137 agammaglobulinemia 3 semapv:UnspecifiedMatching MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:exactMatch OMIM:613501 agammaglobulinemia 3, autosomal recessive semapv:UnspecifiedMatching MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:exactMatch UMLS:C3150751 semapv:UnspecifiedMatching MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:exactMatch OMIM:613502 agammaglobulinemia 4, autosomal recessive semapv:UnspecifiedMatching MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:exactMatch UMLS:C3150752 semapv:UnspecifiedMatching MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:exactMatch DOID:0080588 agammaglobulinemia 5 semapv:UnspecifiedMatching MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:exactMatch OMIM:613506 agammaglobulinemia 5, autosomal dominant semapv:UnspecifiedMatching MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:exactMatch UMLS:C3150753 semapv:UnspecifiedMatching MONDO:0013291 glycogen storage disease XV skos:exactMatch DOID:0050579 glycogen storage disease XV semapv:UnspecifiedMatching MONDO:0013291 glycogen storage disease XV skos:exactMatch OMIM:613507 glycogen storage disease 15 semapv:UnspecifiedMatching MONDO:0013291 glycogen storage disease XV skos:exactMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:UnspecifiedMatching MONDO:0013291 glycogen storage disease XV skos:exactMatch SCTID:717821004 semapv:UnspecifiedMatching MONDO:0013291 glycogen storage disease XV skos:exactMatch UMLS:C3150754 semapv:UnspecifiedMatching MONDO:0013292 chromosome 4q21 deletion syndrome skos:exactMatch DOID:0060420 chromosome 4q21 deletion syndrome semapv:UnspecifiedMatching MONDO:0013292 chromosome 4q21 deletion syndrome skos:exactMatch OMIM:613509 chromosome 4q21 deletion syndrome semapv:UnspecifiedMatching MONDO:0013292 chromosome 4q21 deletion syndrome skos:exactMatch Orphanet:238750 4q21 microdeletion syndrome semapv:UnspecifiedMatching MONDO:0013292 chromosome 4q21 deletion syndrome skos:exactMatch SCTID:719660008 semapv:UnspecifiedMatching MONDO:0013292 chromosome 4q21 deletion syndrome skos:exactMatch UMLS:C3150756 semapv:UnspecifiedMatching MONDO:0013293 isolated microphthalmia 6 skos:exactMatch DOID:0060835 isolated microphthalmia 6 semapv:UnspecifiedMatching MONDO:0013293 isolated microphthalmia 6 skos:exactMatch OMIM:613517 microphthalmia, isolated 6 semapv:UnspecifiedMatching MONDO:0013293 isolated microphthalmia 6 skos:exactMatch UMLS:C3150757 semapv:UnspecifiedMatching MONDO:0013294 dermatitis, atopic, 8 skos:exactMatch DOID:0110104 atopic dermatitis 8 semapv:UnspecifiedMatching MONDO:0013294 dermatitis, atopic, 8 skos:exactMatch OMIM:613518 dermatitis, atopic, 8 semapv:UnspecifiedMatching MONDO:0013294 dermatitis, atopic, 8 skos:exactMatch UMLS:C3150763 semapv:UnspecifiedMatching MONDO:0013295 dermatitis, atopic, 9 skos:exactMatch DOID:0110105 atopic dermatitis 9 semapv:UnspecifiedMatching MONDO:0013295 dermatitis, atopic, 9 skos:exactMatch OMIM:613519 dermatitis, atopic, 9 semapv:UnspecifiedMatching MONDO:0013295 dermatitis, atopic, 9 skos:exactMatch UMLS:C3150764 semapv:UnspecifiedMatching MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:exactMatch NCIT:C84277 Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement semapv:UnspecifiedMatching MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:exactMatch OMIM:613523 chromosome 8p11 myeloproliferative syndrome semapv:UnspecifiedMatching MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:exactMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:UnspecifiedMatching MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:exactMatch UMLS:C3150773 semapv:UnspecifiedMatching MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H skos:exactMatch DOID:0110303 autosomal dominant limb-girdle muscular dystrophy type 1H semapv:UnspecifiedMatching MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H skos:exactMatch OMIM:613530 muscular dystrophy, limb-girdle, iia 1h semapv:UnspecifiedMatching MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H skos:exactMatch Orphanet:238755 OBSOLETE: Autosomal dominant limb-girdle muscular dystrophy type 1H semapv:UnspecifiedMatching MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H skos:exactMatch UMLS:C3150786 semapv:UnspecifiedMatching MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:exactMatch DOID:0060434 chromosome 17q21.31 duplication syndrome semapv:UnspecifiedMatching MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:exactMatch OMIM:613533 chromosome 17q21.31 duplication syndrome semapv:UnspecifiedMatching MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:exactMatch Orphanet:217340 17q21.31 microduplication syndrome semapv:UnspecifiedMatching MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:exactMa