DOID:0001816	angiosarcoma
DOID:0002116	pterygium
DOID:0050052	Rocky Mountain spotted fever
DOID:0050118	La Crosse encephalitis
DOID:0050120	hemophagocytic lymphohistiocytosis
DOID:0050127	sinusitis
DOID:0050129	secretory diarrhea
DOID:0050141	intestinal botulism
DOID:0050144	Kartagener syndrome
DOID:0050147	otomycosis
DOID:0050150	Pontiac fever
DOID:0050152	aspiration pneumonia
DOID:0050157	cryptogenic organizing pneumonia
DOID:0050160	inhalation anthrax
DOID:0050169	cutaneous lupus erythematosus
DOID:0050175	tick-borne encephalitis
DOID:0050185	erythema multiforme
DOID:0050202	lujo hemorrhagic fever
DOID:0050214	Lambert-Eaton myasthenic syndrome
DOID:0050266	tungiasis
DOID:0050289	fusariosis
DOID:0050290	trichosporonosis
DOID:0050304	aniseikonia
DOID:0050328	congenital hypothyroidism
DOID:0050332	enlarged vestibular aqueduct
DOID:0050336	hypophosphatemia
DOID:0050352	foodborne botulism
DOID:0050353	wound botulism
DOID:0050354	infant botulism
DOID:0050387	nonpapillary renal cell carcinoma
DOID:0050424	familial adenomatous polyposis
DOID:0050425	restless legs syndrome
DOID:0050426	Stevens-Johnson syndrome
DOID:0050427	xeroderma pigmentosum
DOID:0050428	nonepidermolytic palmoplantar keratoderma
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy
DOID:0050439	Usher syndrome
DOID:0050440	familial partial lipodystrophy
DOID:0050444	infantile Refsum disease
DOID:0050448	hereditary mucosal leukokeratosis
DOID:0050449	pachyonychia congenita
DOID:0050451	Brugada syndrome
DOID:0050453	lissencephaly
DOID:0050454	periventricular nodular heterotopia
DOID:0050456	Buruli ulcer disease
DOID:0050457	Sertoli cell-only syndrome
DOID:0050459	hyperphosphatemia
DOID:0050466	Loeys-Dietz syndrome
DOID:0050471	Carney complex
DOID:0050475	Weill-Marchesani syndrome
DOID:0050486	exanthem
DOID:0050489	multinodular goiter
DOID:0050495	exanthema subitum
DOID:0050524	maturity-onset diabetes of the young
DOID:0050534	congenital stationary night blindness
DOID:0050535	exudative vitreoretinopathy
DOID:0050537	posterior polar cataract
DOID:0050544	hypermethioninemia
DOID:0050549	Saldino-Noonan syndrome
DOID:0050556	infantile onset spinocerebellar ataxia
DOID:0050557	congenital muscular dystrophy
DOID:0050560	Walker-Warburg syndrome
DOID:0050562	West syndrome
DOID:0050568	spondylocostal dysostosis
DOID:0050569	Seckel syndrome
DOID:0050572	cone-rod dystrophy
DOID:0050575	D-2-hydroxyglutaric aciduria
DOID:0050576	Senior-Loken syndrome
DOID:0050581	brachydactyly
DOID:0050585	congenital generalized lipodystrophy
DOID:0050589	inflammatory bowel disease
DOID:0050591	tooth agenesis
DOID:0050593	primary congenital glaucoma
DOID:0050596	taeniasis
DOID:0050625	biliary tract neoplasm
DOID:0050629	Aicardi-Goutieres syndrome
DOID:0050632	oculocutaneous albinism
DOID:0050633	ocular albinism
DOID:0050642	hypochromic microcytic anemia
DOID:0050646	distal arthrogryposis
DOID:0050651	atrioventricular septal defect
DOID:0050661	vitelliform macular dystrophy
DOID:0050663	Bethlem myopathy
DOID:0050665	fetal alcohol syndrome
DOID:0050672	dyskinetic cerebral palsy
DOID:0050690	brachyolmia
DOID:0050694	Brown-Vialetto-Van Laere syndrome
DOID:0050697	chorioamnionitis
DOID:0050699	Dent disease
DOID:0050700	cardiomyopathy
DOID:0050730	coenzyme Q10 deficiency disease
DOID:0050731	vitamin B12 deficiency
DOID:0050742	nicotine dependence
DOID:0050744	anaplastic large cell lymphoma
DOID:0050745	diffuse large B-cell lymphoma
DOID:0050746	mantle cell lymphoma
DOID:0050751	T-cell large granular lymphocyte leukemia
DOID:0050753	cerebellar ataxia
DOID:0050756	Batten disease
DOID:0050758	metabolic acidosis
DOID:0050765	neuroacanthocytosis
DOID:0050770	polycystic liver disease
DOID:0050773	paraganglioma
DOID:0050776	non-syndromic X-linked intellectual disability
DOID:0050777	Joubert syndrome
DOID:0050778	Meckel syndrome
DOID:0050780	Opitz-GBBB syndrome
DOID:0050782	Zollinger-Ellison syndrome
DOID:0050795	cone dystrophy
DOID:0050811	congenital adrenal hyperplasia
DOID:0050817	Stargardt disease
DOID:0050820	atrioventricular block
DOID:0050830	peripheral artery disease
DOID:0050836	focal dystonia
DOID:0050842	oculogyric crisis
DOID:0050843	oromandibular dystonia
DOID:0050844	spasmodic dystonia
DOID:0050847	sleep apnea
DOID:0050851	glomerulosclerosis
DOID:0050856	oppositional defiant disorder
DOID:0050868	hepatocellular adenoma
DOID:0050869	villous adenoma
DOID:0050871	fibroma
DOID:0050873	follicular lymphoma
DOID:0050891	adrenal cortical adenoma
DOID:0050894	ameloblastoma
DOID:0050922	gastrointestinal carcinoma
DOID:0050926	jejunal adenocarcinoma
DOID:0050949	autosomal recessive hypophosphatemic rickets
DOID:0050952	spastic ataxia
DOID:0060002	C1 inhibitor deficiency
DOID:0060025	immunoglobulin alpha deficiency
DOID:0060028	Good syndrome
DOID:0060040	pervasive developmental disorder
DOID:0060041	autism spectrum disorder
DOID:0060046	aphasia
DOID:0060058	lymphoma
DOID:0060060	non-Hodgkin lymphoma
DOID:0060061	cutaneous T cell lymphoma
DOID:0060068	marantic endocarditis
DOID:0060074	ductal carcinoma in situ
DOID:0060098	osteoblastoma
DOID:0060104	cerebellar medulloblastoma
DOID:0060119	pharynx cancer
DOID:0060125	heavy chain disease
DOID:0060126	alpha chain disease
DOID:0060127	gamma heavy chain disease
DOID:0060135	apraxia
DOID:0060141	finger agnosia
DOID:0060150	astereognosia
DOID:0060155	visual agnosia
DOID:0060156	visual verbal agnosia
DOID:0060157	diffuse alopecia areata
DOID:0060159	organic acidemia
DOID:0060169	benign familial infantile epilepsy
DOID:0060180	colitis
DOID:0060181	ischemic colitis
DOID:0060182	microscopic colitis
DOID:0060183	collagenous colitis
DOID:0060184	lymphocytic colitis
DOID:0060185	Clostridium difficile colitis
DOID:0060189	ileitis
DOID:0060216	Cogan syndrome
DOID:0060224	atrial fibrillation
DOID:0060225	3MC syndrome
DOID:0060230	basal ganglia calcification
DOID:0060231	Bruck syndrome
DOID:0060232	branchiootic syndrome
DOID:0060233	cardiofaciocutaneous syndrome
DOID:0060234	Carpenter syndrome
DOID:0060235	carnitine palmitoyltransferase II deficiency
DOID:0060236	xanthinuria
DOID:0060237	Warburg micro syndrome
DOID:0060239	Van der Woude syndrome
DOID:0060242	synpolydactyly
DOID:0060249	scoliosis
DOID:0060251	sclerosteosis
DOID:0060252	sclerocornea
DOID:0060253	scapuloperoneal myopathy
DOID:0060260	ptosis
DOID:0060263	porencephaly
DOID:0060280	primary pigmented nodular adrenocortical disease
DOID:0060282	persistent hyperplastic primary vitreous
DOID:0060283	peeling skin syndrome
DOID:0060284	paroxysmal nocturnal hemoglobinuria
DOID:0060285	parietal foramina
DOID:0060287	cornea plana
DOID:0060291	oculodentodigital dysplasia
DOID:0060294	cold-induced sweating syndrome
DOID:0060305	megalocornea
DOID:0060312	angular cheilitis
DOID:0060313	tracheomalacia
DOID:0060315	oral hairy leukoplakia
DOID:0060319	cardiac arrest
DOID:0060320	inguinal hernia
DOID:0060321	umbilical hernia
DOID:0060322	mastoiditis
DOID:0060325	cervical polyp
DOID:0060326	myelomeningocele
DOID:0060327	omphalocele
DOID:0060328	anal fistula
DOID:0060329	ectopic pregnancy
DOID:0060334	transient neonatal diabetes mellitus
DOID:0060336	3-methylglutaconic aciduria
DOID:0060345	bacillary angiomatosis
DOID:0060347	acrorenal syndrome
DOID:0060361	punctate palmoplantar keratoderma
DOID:0060438	Cole-Carpenter syndrome
DOID:0060462	Desbuquois dysplasia
DOID:0060464	Feingold syndrome
DOID:0060465	fibrochondrogenesis
DOID:0060466	gingival fibromatosis
DOID:0060467	humeroradial synostosis
DOID:0060473	Kabuki syndrome
DOID:0060480	left ventricular noncompaction
DOID:0060497	pollen allergy
DOID:0060532	latex allergy
DOID:0060538	purpura fulminans
DOID:0060565	Ritscher-Schinzel syndrome
DOID:0060567	erythema elevatum diutinum
DOID:0060597	atypical chronic myeloid leukemia
DOID:0060668	anencephaly
DOID:0060669	cerebral cavernous malformation
DOID:0060674	catecholaminergic polymorphic ventricular tachycardia
DOID:0060699	familial hypocalciuric hypercalcemia
DOID:0060738	junctional epidermolysis bullosa non-Herlitz type
DOID:0060782	EEC syndrome
DOID:0060831	Griscelli syndrome
DOID:0060870	isolated growth hormone deficiency
DOID:0060890	ectopic Cushing syndrome
DOID:0060901	Waldenstroem's macroglobulinemia
DOID:0080016	spina bifida
DOID:0080027	spondyloepimetaphyseal dysplasia
DOID:0080032	craniodiaphyseal dysplasia
DOID:0080033	craniometaphyseal dysplasia
DOID:0080043	achondrogenesis
DOID:0080046	Stickler syndrome
DOID:0080070	inclusion-cell disease
DOID:0080071	pseudo-Hurler polydystrophy
DOID:0080073	spina bifida occulta
DOID:0080074	neural tube defect
DOID:0080099	myopathy, lactic acidosis, and sideroblastic anemia
DOID:0080109	infantile myofibromatosis
DOID:0080160	Cytomegalovirus retinitis
DOID:0080161	cutaneous candidiasis
DOID:0080162	lupus nephritis
DOID:0080177	hepatic veno-occlusive disease
DOID:0080178	mucositis
DOID:0090007	immunodeficiency-centromeric instability-facial anomalies syndrome
DOID:0090020	split hand-foot malformation
DOID:0090061	familial cold autoinflammatory syndrome
DOID:0090070	hypogonadotropic hypogonadism
DOID:0110734	neurodegeneration with brain iron accumulation
DOID:0110827	Usher syndrome type 2
DOID:0110828	Usher syndrome type 3
DOID:10003	sensorineural hearing loss
DOID:10011	thyroid lymphoma
DOID:1002	endometritis
DOID:10024	migraine with aura
DOID:10027	tabes dorsalis
DOID:1003	pelvic inflammatory disease
DOID:10039	late congenital syphilis
DOID:10041	dysplastic nevus syndrome
DOID:10074	hymenolepiasis
DOID:10075	diphyllobothriasis
DOID:10079	cysticercosis
DOID:10080	sparganosis
DOID:10112	sleeping sickness
DOID:10113	trypanosomiasis
DOID:10126	keratoconus
DOID:10128	venous insufficiency
DOID:10138	xerophthalmia
DOID:10140	dry eye syndrome
DOID:10155	intestinal cancer
DOID:10156	ileal neoplasm
DOID:10159	osteonecrosis
DOID:10175	optic papillitis
DOID:10176	neuroretinitis
DOID:1019	osteomyelitis
DOID:10192	pleomorphic lipoma
DOID:10211	cholelithiasis
DOID:1022	pinta disease
DOID:10223	dermatomyositis
DOID:1023	borderline leprosy
DOID:10230	aortic atherosclerosis
DOID:1024	leprosy
DOID:10241	thalassemia
DOID:10242	ehrlichiosis
DOID:10247	pleurisy
DOID:1025	tuberculoid leprosy
DOID:10250	louping ill
DOID:10264	mumps
DOID:10283	prostate cancer
DOID:1029	familial periodic paralysis
DOID:10301	parotitis
DOID:10303	sialadenitis
DOID:10310	viral meningitis
DOID:10314	endocarditis
DOID:10320	asbestosis
DOID:10322	berylliosis
DOID:10323	byssinosis
DOID:10324	anthracosilicosis
DOID:10325	silicosis
DOID:10326	Caplan's syndrome
DOID:10327	anthracosis
DOID:10328	siderosis
DOID:10348	blepharophimosis
DOID:10350	breast cyst
DOID:1036	chronic leukemia
DOID:1037	lymphoblastic leukemia
DOID:10371	yaws
DOID:10375	suppression amblyopia
DOID:10376	amblyopia
DOID:1039	prolymphocytic leukemia
DOID:10393	secondary hypertrophic osteoarthropathy
DOID:1040	chronic lymphocytic leukemia
DOID:10426	Klippel-Feil syndrome
DOID:10456	tonsillitis
DOID:10457	Legionnaires' disease
DOID:10458	legionellosis
DOID:10459	common cold
DOID:10460	nasopharyngitis
DOID:10480	diaphragmatic eventration
DOID:10485	esophageal atresia
DOID:10486	intestinal atresia
DOID:10487	Hirschsprung's disease
DOID:10488	imperforate anus
DOID:10507	Dressler's syndrome
DOID:10526	conjunctival pterygium
DOID:10533	viral pneumonia
DOID:10534	stomach cancer
DOID:10540	gastric lymphoma
DOID:10554	meningoencephalitis
DOID:10573	osteomalacia
DOID:10579	leukodystrophy
DOID:10581	metachromatic leukodystrophy
DOID:10584	retinitis pigmentosa
DOID:10588	adrenoleukodystrophy
DOID:1059	intellectual disability
DOID:10591	pre-eclampsia
DOID:10595	Charcot-Marie-Tooth disease
DOID:106	pleural tuberculosis
DOID:10602	steatorrhea
DOID:10603	glucose intolerance
DOID:10604	lactose intolerance
DOID:10605	short bowel syndrome
DOID:10606	blind loop syndrome
DOID:10607	tropical sprue
DOID:10608	celiac disease
DOID:10609	rickets
DOID:1062	Fanconi syndrome
DOID:10629	microphthalmia
DOID:1063	interstitial nephritis
DOID:10632	Wolfram syndrome
DOID:1064	cystinosis
DOID:10652	Alzheimer's disease
DOID:1067	open-angle glaucoma
DOID:10690	mastitis
DOID:10699	paragonimiasis
DOID:10718	giardiasis
DOID:1073	renal hypertension
DOID:1074	kidney failure
DOID:10747	lymphoid leukemia
DOID:10754	otitis media
DOID:10755	petrositis
DOID:10762	portal hypertension
DOID:10763	hypertension
DOID:10772	thrombotic thrombocytopenic purpura
DOID:10782	mesenteric lymphadenitis
DOID:10783	methemoglobinemia
DOID:10787	premature menopause
DOID:1079	setariasis
DOID:10791	frontal sinusitis
DOID:10794	sphenoid sinusitis
DOID:1080	filariasis
DOID:10808	gastric ulcer
DOID:1081	mansonelliasis
DOID:10816	duodenum adenocarcinoma
DOID:1082	dirofilariasis
DOID:10824	malignant hypertension
DOID:10841	Eastern equine encephalitis
DOID:10843	Western equine encephalitis
DOID:10844	Japanese encephalitis
DOID:10845	St. Louis encephalitis
DOID:1085	Edwards syndrome
DOID:10854	salivary gland disease
DOID:10869	fourth cranial nerve palsy
DOID:10871	age related macular degeneration
DOID:1088	meningocele
DOID:10881	hand, foot and mouth disease
DOID:10882	epidemic pleurodynia
DOID:10883	herpangina
DOID:10887	lepromatous leprosy
DOID:1089	tethered spinal cord syndrome
DOID:10892	hypospadias
DOID:10907	microcephaly
DOID:10908	hydrocephalus
DOID:10930	borderline personality disorder
DOID:1094	attention deficit hyperactivity disorder
DOID:10941	intracranial aneurysm
DOID:10952	nephritis
DOID:10955	strongyloidiasis
DOID:10965	spastic diplegia
DOID:10966	lipoid nephrosis
DOID:10967	spastic hemiplegia
DOID:10968	spastic monoplegia
DOID:10969	hemiplegia
DOID:10970	spastic quadriplegia
DOID:10974	oophoritis
DOID:10976	membranous glomerulonephritis
DOID:1098	fetal erythroblastosis
DOID:10983	Alport syndrome
DOID:10986	discitis
DOID:10991	basal ganglia cerebrovascular disease
DOID:110	lens disease
DOID:1100	ovarian disease
DOID:11029	pinguecula
DOID:11030	corneal edema
DOID:11049	meconium aspiration syndrome
DOID:11054	urinary bladder cancer
DOID:11055	pasteurellosis
DOID:11060	placenta praevia
DOID:1107	esophageal carcinoma
DOID:11077	brucellosis
DOID:11080	myiasis
DOID:11086	chorioretinal scar
DOID:11088	asphyxia neonatorum
DOID:11100	Q fever
DOID:11101	trench fever
DOID:11102	bartonellosis
DOID:11111	hydronephrosis
DOID:11121	pulpitis
DOID:11123	Henoch-Schoenlein purpura
DOID:1115	sarcoma
DOID:11151	cholecystolithiasis
DOID:11153	miliaria rubra
DOID:11155	hypohidrosis
DOID:11156	anhidrosis
DOID:1116	pertussis
DOID:11162	respiratory failure
DOID:11165	common wart
DOID:11168	anogenital venereal wart
DOID:11175	enophthalmos
DOID:11193	syndactyly
DOID:11199	hypoparathyroidism
DOID:112	esophageal varix
DOID:11202	primary hyperparathyroidism
DOID:11204	allergic conjunctivitis
DOID:11212	hydrophthalmos
DOID:11227	acute hemorrhagic conjunctivitis
DOID:11234	orbital cellulitis
DOID:11239	appendix cancer
DOID:11244	neonatal anemia
DOID:11247	disseminated intravascular coagulation
DOID:11249	vitamin K deficiency hemorrhagic disease
DOID:11252	microcytic anemia
DOID:11254	Brill-Zinsser disease
DOID:11256	typhus
DOID:11258	cat-scratch disease
DOID:11260	rabies
DOID:11262	ornithosis
DOID:11263	chlamydia
DOID:11265	trachoma
DOID:11266	hemorrhagic fever with renal syndrome
DOID:11285	tick paralysis
DOID:1129	pituitary apoplexy
DOID:11294	arteriovenous malformation
DOID:11312	Mobitz type II atrioventricular block
DOID:11320	Kyasanur forest disease
DOID:11330	erysipelas
DOID:11335	sarcoidosis
DOID:11336	rhinoscleroma
DOID:11337	Lemierre's syndrome
DOID:11338	tetanus
DOID:11339	pneumocystosis
DOID:11355	bladder calculus
DOID:11360	Phlebotomus fever
DOID:11364	lens subluxation
DOID:11372	megacolon
DOID:11379	gnathomiasis
DOID:1138	spinal meningioma
DOID:11382	corneal neovascularization
DOID:11387	epidural abscess
DOID:11389	subdural empyema
DOID:11394	adult respiratory distress syndrome
DOID:11396	pulmonary edema
DOID:11400	pyelonephritis
DOID:11401	xanthogranulomatous pyelonephritis
DOID:11405	diphtheria
DOID:11406	choroiditis
DOID:1143	exotropia
DOID:11446	sciatic neuropathy
DOID:11476	osteoporosis
DOID:1148	polydactyly
DOID:11481	constrictive pericarditis
DOID:11482	hemopericardium
DOID:11486	Horner's syndrome
DOID:115	cardiac tamponade
DOID:11502	mitral valve insufficiency
DOID:11506	suppurative otitis media
DOID:11518	abnormal pupillary function
DOID:11554	Chandler syndrome
DOID:11555	Fuchs' endothelial dystrophy
DOID:1156	chondrocalcinosis
DOID:11561	hypertensive retinopathy
DOID:11563	retinal vasculitis
DOID:11572	Listeria meningitis
DOID:11573	listeriosis
DOID:11577	Cauda equina syndrome
DOID:11608	fungal meningitis
DOID:11612	polycystic ovary syndrome
DOID:11613	hyperandrogenism
DOID:11624	penile neoplasm
DOID:11633	thyroid hormone resistance syndrome
DOID:11656	cicatricial pemphigoid
DOID:11664	nephrosclerosis
DOID:11665	Patau syndrome
DOID:11678	onchocerciasis
DOID:11695	portal vein thrombosis
DOID:117	heart cancer
DOID:11702	dysgammaglobulinemia
DOID:11712	lipoatrophic diabetes
DOID:11713	diabetic angiopathy
DOID:11716	prediabetes syndrome
DOID:11720	distal muscular dystrophy
DOID:11724	limb-girdle muscular dystrophy
DOID:11725	Cornelia de Lange syndrome
DOID:11726	Emery-Dreifuss muscular dystrophy
DOID:11727	facioscapulohumeral muscular dystrophy
DOID:11729	Lyme disease
DOID:11755	choledocholithiasis
DOID:11758	iron deficiency anemia
DOID:11759	hypochromic anemia
DOID:1176	bronchial disease
DOID:11772	leukocoria
DOID:118	pericardial effusion
DOID:11823	hepatorenal syndrome
DOID:11824	multicentric reticulohistiocytosis
DOID:11829	degenerative myopia
DOID:11830	myopia
DOID:11831	cortical blindness
DOID:1184	nephrotic syndrome
DOID:11840	coronary artery vasospasm
DOID:11847	coronary thrombosis
DOID:1187	tibial neuropathy
DOID:11875	denture stomatitis
DOID:1188	mononeuropathy
DOID:11885	ureteral benign neoplasm
DOID:119	vaginal cancer
DOID:11907	ecthyma
DOID:11914	gastroparesis
DOID:1192	peripheral nervous system neoplasm
DOID:11920	tracheal cancer
DOID:11934	head and neck cancer
DOID:11949	Creutzfeldt-Jakob disease
DOID:11963	esophagitis
DOID:11968	postmenopausal atrophic vaginitis
DOID:11976	botulism
DOID:11981	morbid obesity
DOID:11984	hypertrophic cardiomyopathy
DOID:11991	osteopoikilosis
DOID:11997	spermatocele
DOID:120	female reproductive organ cancer
DOID:12010	anterior ischemic optic neuropathy
DOID:12028	Conn's syndrome
DOID:12029	sympathetic ophthalmia
DOID:12030	panuveitis
DOID:1205	allergic hypersensitivity disease
DOID:12053	cryptococcosis
DOID:1206	Rett syndrome
DOID:1210	optic neuritis
DOID:12119	hemosiderosis
DOID:12120	pulmonary alveolar proteinosis
DOID:12129	bulimia nervosa
DOID:1214	tympanosclerosis
DOID:12140	Chagas disease
DOID:12143	neurogenic bladder
DOID:12155	lymphocytic choriomeningitis
DOID:12156	arachnoiditis
DOID:12157	aseptic meningitis
DOID:12161	peripheral retinal degeneration
DOID:1217	fascioloidiasis
DOID:12170	radial nerve lesion
DOID:12176	goiter
DOID:12177	common variable immunodeficiency
DOID:1218	echinostomiasis
DOID:12185	otosclerosis
DOID:1219	dicrocoeliasis
DOID:12197	punctate epithelial keratoconjunctivitis
DOID:12205	dengue disease
DOID:12211	filarial elephantiasis
DOID:12215	oligohydramnios
DOID:12236	primary biliary cirrhosis
DOID:12237	bile reflux
DOID:12239	anal margin squamous cell carcinoma
DOID:12241	beta thalassemia
DOID:12252	Cushing's syndrome
DOID:1227	neutropenia
DOID:12270	coloboma
DOID:12271	aniridia
DOID:12273	anisometropia
DOID:12287	Crimean-Congo hemorrhagic fever
DOID:12297	Vogt-Koyanagi-Harada disease
DOID:12318	corneal granular dystrophy
DOID:12328	marasmus
DOID:12336	male infertility
DOID:12337	varicocele
DOID:12347	osteogenesis imperfecta
DOID:12351	alcoholic hepatitis
DOID:12361	Graves' disease
DOID:12365	malaria
DOID:12369	prolapse of urethra
DOID:1237	corneal degeneration
DOID:12375	bronchopneumonia
DOID:12377	spinal muscular atrophy
DOID:12382	complex partial epilepsy
DOID:12384	dysentery
DOID:12385	shigellosis
DOID:12386	balantidiasis
DOID:12387	nephrogenic diabetes insipidus
DOID:12388	neurohypophyseal diabetes insipidus
DOID:12397	entropion
DOID:1240	leukemia
DOID:12403	tinea pedis
DOID:12449	aplastic anemia
DOID:1245	vulva cancer
DOID:12450	pancytopenia
DOID:12451	sulfhemoglobinemia
DOID:12466	secondary hyperparathyroidism
DOID:12506	Bell's palsy
DOID:12514	retinal perforation
DOID:1252	trichuriasis
DOID:12522	bagassosis
DOID:12526	tarsal tunnel syndrome
DOID:12531	von Willebrand's disease
DOID:1254	trichostrongylosis
DOID:12549	hepatitis A
DOID:1255	trichostrongyloidiasis
DOID:12550	hepatic coma
DOID:12554	hemolytic-uremic syndrome
DOID:12556	acute kidney tubular necrosis
DOID:12557	Duane retraction syndrome
DOID:12558	chronic progressive external ophthalmoplegia
DOID:12568	dyscalculia
DOID:12574	posterior uveitis
DOID:12577	urethral obstruction
DOID:1260	parametritis
DOID:12638	hypertrophic pyloric stenosis
DOID:12639	pyloric stenosis
DOID:12662	paracoccidioidomycosis
DOID:12663	blastomycosis
DOID:12678	hypercalcemia
DOID:12679	nephrocalcinosis
DOID:12680	pseudobulbar palsy
DOID:12683	vestibular neuronitis
DOID:12689	acoustic neuroma
DOID:12697	locked-in syndrome
DOID:12698	gynecomastia
DOID:1270	hereditary hemorrhagic telangiectasia
DOID:12705	Friedreich ataxia
DOID:12711	black piedra
DOID:12712	nephronophthisis
DOID:1272	telangiectasis
DOID:12720	cerebral atherosclerosis
DOID:12721	multiple epiphyseal dysplasia
DOID:1273	respiratory syncytial virus infectious disease
DOID:12732	intermediate uveitis
DOID:12733	hypercementosis
DOID:12750	cyclosporiasis
DOID:12759	choroid cancer
DOID:1278	tolosa-hunt syndrome
DOID:12785	diabetic polyneuropathy
DOID:12801	mucopolysaccharidosis III
DOID:12802	mucopolysaccharidosis I
DOID:12804	mucopolysaccharidosis IV
DOID:1283	enterocele
DOID:12835	quadriplegia
DOID:12837	thyroid crisis
DOID:12841	ancylostomiasis
DOID:12842	Guillain-Barre syndrome
DOID:12849	autistic disorder
DOID:12859	choreatic disease
DOID:12889	Miller Fisher syndrome
DOID:1289	neurodegenerative disease
DOID:12895	keratoconjunctivitis sicca
DOID:12900	Mikulicz disease
DOID:12901	necrotizing sialometaplasia
DOID:12905	sialolithiasis
DOID:12926	hypodermyiasis
DOID:12927	screw worm infectious disease
DOID:12930	dilated cardiomyopathy
DOID:12932	endomyocardial fibrosis
DOID:12935	alcoholic cardiomyopathy
DOID:12958	paralytic lagophthalmos
DOID:12971	hereditary spherocytosis
DOID:12978	Plasmodium vivax malaria
DOID:12986	leukostasis
DOID:12987	agranulocytosis
DOID:13001	carotid stenosis
DOID:13002	subclavian steal syndrome
DOID:13025	retinopathy of prematurity
DOID:13026	lobomycosis
DOID:13027	transient global amnesia
DOID:13033	balanitis
DOID:13038	cicatricial lagophthalmos
DOID:13068	renal osteodystrophy
DOID:1307	dementia
DOID:13078	eumycotic mycetoma
DOID:13087	Lown-Ganong-Levine syndrome
DOID:13088	periventricular leukomalacia
DOID:13089	intracranial arterial disease
DOID:13099	Moyamoya disease
DOID:13100	intracranial vasospasm
DOID:13117	paronychia
DOID:13134	hordeolum externum
DOID:13139	crescentic glomerulonephritis
DOID:13140	suppurative uveitis
DOID:13141	uveitis
DOID:13148	acute cystitis
DOID:13185	esophageal diverticulosis
DOID:13189	gout
DOID:1319	brain cancer
DOID:13196	lingual goiter
DOID:13197	nodular goiter
DOID:13198	endemic goiter
DOID:13200	substernal goiter
DOID:13209	right bundle branch block
DOID:13249	pneumatosis cystoides intestinalis
DOID:13250	diarrhea
DOID:13252	mesenteric vascular occlusion
DOID:13254	diverticulitis of colon
DOID:13258	typhoid fever
DOID:13268	porphyria
DOID:13270	erythropoietic protoporphyria
DOID:1328	Rift Valley fever
DOID:13316	exocrine pancreatic insufficiency
DOID:13317	hyperinsulinemic hypoglycemia
DOID:13336	congenital toxoplasmosis
DOID:13371	scrub typhus
DOID:1338	congenital dyserythropoietic anemia
DOID:13382	megaloblastic anemia
DOID:1339	Diamond-Blackfan anemia
DOID:1340	pure red-cell aplasia
DOID:13404	uveoparotid fever
DOID:13406	pulmonary sarcoidosis
DOID:13413	hepatic encephalopathy
DOID:13417	alexia
DOID:13419	neurogenic bowel
DOID:1342	congenital hypoplastic anemia
DOID:1343	urethritis
DOID:13444	glanders
DOID:13450	coccidioidomycosis
DOID:13452	scleritis
DOID:13481	thanatophoric dysplasia
DOID:13499	jejunal cancer
DOID:1350	paranasal sinus neoplasm
DOID:13500	hairy tongue
DOID:13515	tuberous sclerosis
DOID:13523	loiasis
DOID:13533	osteopetrosis
DOID:13543	hyperparathyroidism
DOID:13544	low tension glaucoma
DOID:13548	secondary Parkinson disease
DOID:13550	angle-closure glaucoma
DOID:13561	optic disk drusen
DOID:13564	aspergillosis
DOID:13565	neuroaspergillosis
DOID:13576	twin-to-twin transfusion syndrome
DOID:13579	kwashiorkor
DOID:1358	maxillary sinus neoplasm
DOID:13580	cholestasis
DOID:13593	eclampsia
DOID:13603	obstructive jaundice
DOID:13619	extrahepatic cholestasis
DOID:13620	patent foramen ovale
DOID:13622	campylobacteriosis
DOID:13628	favism
DOID:13636	Fanconi anemia
DOID:13677	SAPHO syndrome
DOID:13709	premature ejaculation
DOID:13711	dental fluorosis
DOID:13722	neuroschistosomiasis
DOID:13725	beriberi
DOID:13732	panophthalmitis
DOID:13757	excessive tearing
DOID:13767	clonorchiasis
DOID:13768	opisthorchiasis
DOID:13774	Addison's disease
DOID:13777	epidermodysplasia verruciformis
DOID:1380	endometrial cancer
DOID:13800	inclusion conjunctivitis
DOID:13801	pharyngoconjunctival fever
DOID:13809	familial combined hyperlipidemia
DOID:1381	Fox-Fordyce disease
DOID:13810	familial hypercholesterolemia
DOID:13819	lymphogranuloma venereum
DOID:1383	sweat gland disease
DOID:13832	patent ductus arteriosus
DOID:13864	trochlear nerve disease
DOID:1387	hypolipoproteinemia
DOID:13884	sick sinus syndrome
DOID:1389	polyneuropathy
DOID:13891	bird fancier's lung
DOID:1390	hypobetalipoproteinemia
DOID:13911	achromatopsia
DOID:13922	eosinophilic esophagitis
DOID:13924	necrotizing ulcerative gingivitis
DOID:13929	lacrimal duct obstruction
DOID:13934	facial paralysis
DOID:13938	amenorrhea
DOID:1394	urinary schistosomiasis
DOID:13948	bladder neck obstruction
DOID:1395	schistosomiasis
DOID:13976	peptic esophagitis
DOID:13994	cleidocranial dysplasia
DOID:14004	thoracic aortic aneurysm
DOID:14018	alcoholic liver cirrhosis
DOID:14021	Tietze's syndrome
DOID:14039	POEMS syndrome
DOID:14040	autoimmune polyendocrine syndrome
DOID:14043	neonatal myasthenia gravis
DOID:14049	phaeohyphomycosis
DOID:1405	primary angle-closure glaucoma
DOID:1406	iritis
DOID:14067	Plasmodium falciparum malaria
DOID:14068	blackwater fever
DOID:14069	cerebral malaria
DOID:1407	anterior uveitis
DOID:14070	vestibular nystagmus
DOID:14087	epicondylitis
DOID:14089	root caries
DOID:14095	boutonneuse fever
DOID:14107	De Quervain disease
DOID:14115	toxic shock syndrome
DOID:14116	multiple symmetric lipomatosis
DOID:1412	bacteriuria
DOID:14121	blue toe syndrome
DOID:14146	ureterolithiasis
DOID:14159	obstructive hydrocephalus
DOID:1417	choroid disease
DOID:14174	central neurocytoma
DOID:14176	selective IgG deficiency disease
DOID:14183	alcoholic neuropathy
DOID:14188	frozen shoulder
DOID:14203	childhood type dermatomyositis
DOID:14213	hypophosphatasia
DOID:14219	renal tubular acidosis
DOID:14223	ochronosis
DOID:14224	tracheal calcification
DOID:14227	azoospermia
DOID:14233	orbital cyst
DOID:14256	adult-onset Still's disease
DOID:14262	oral candidiasis
DOID:14264	benign neonatal seizures
DOID:14265	pulmonary valve insufficiency
DOID:14268	sclerosing cholangitis
DOID:14276	shoulder impingement syndrome
DOID:14283	primary hypertrophic osteoarthropathy
DOID:14284	patellofemoral pain syndrome
DOID:14286	neurogenic arthropathy
DOID:14291	LEOPARD syndrome
DOID:14305	tuberculous empyema
DOID:14308	skin epithelioid hemangioma
DOID:14319	pleuropneumonia
DOID:1432	blindness
DOID:14330	Parkinson's disease
DOID:14332	postencephalitic Parkinson disease
DOID:14350	suppurative thyroiditis
DOID:1439	pyuria
DOID:14400	capillary leak syndrome
DOID:1441	autosomal dominant cerebellar ataxia
DOID:14418	dracunculiasis
DOID:1442	Alpers syndrome
DOID:14422	dipetalonemiasis
DOID:1443	cerebral degeneration
DOID:14447	gonadal dysgenesis
DOID:14448	46 XY gonadal dysgenesis
DOID:14449	mixed gonadal dysgenesis
DOID:14452	hypokalemic periodic paralysis
DOID:14464	neuroleptic malignant syndrome
DOID:14472	hantavirus pulmonary syndrome
DOID:14482	herpes gestationis
DOID:14483	chorea gravidarum
DOID:14484	sporotrichosis
DOID:14495	dumping syndrome
DOID:14497	Wolman disease
DOID:14502	cholesterol ester storage disease
DOID:14503	neuronal ceroid lipofuscinosis
DOID:14504	Niemann-Pick disease
DOID:14525	Reye syndrome
DOID:1455	geographic tongue
DOID:14555	Foster-Kennedy syndrome
DOID:14557	primary pulmonary hypertension
DOID:1456	glossitis
DOID:1459	hypothyroidism
DOID:146	papilledema
DOID:1461	cholesterol embolism
DOID:14654	prostatitis
DOID:14669	acrodysostosis
DOID:1468	labyrinthitis
DOID:14686	Axenfeld-Rieger syndrome
DOID:14702	branchiootorenal syndrome
DOID:14717	centronuclear myopathy
DOID:14735	hereditary angioedema
DOID:14748	Sotos syndrome
DOID:14749	methylmalonic acidemia
DOID:1475	lymphangioma
DOID:14766	renal agenesis
DOID:14775	brittle cornea syndrome
DOID:14784	olivopontocerebellar atrophy
DOID:14791	Leber congenital amaurosis
DOID:14793	hypohidrotic ectodermal dysplasia
DOID:14798	Blount's disease
DOID:1496	echinococcosis
DOID:1498	cholera
DOID:1508	candidiasis
DOID:1510	personality disorder
DOID:1517	cecal benign neoplasm
DOID:1525	nodular nonsuppurative panniculitis
DOID:1526	panniculitis
DOID:154	mixed cell type cancer
DOID:1555	urticaria
DOID:1556	arthus reaction
DOID:1557	hypersensitivity reaction type III disease
DOID:1558	angioedema
DOID:1562	chromoblastomycosis
DOID:1570	ectropion
DOID:1573	communicating hydrocephalus
DOID:1574	alcohol abuse
DOID:1577	limited scleroderma
DOID:1580	diffuse scleroderma
DOID:1583	laryngeal tuberculosis
DOID:1584	acute chest syndrome
DOID:1586	rheumatic fever
DOID:1588	thrombocytopenia
DOID:1591	renovascular hypertension
DOID:1602	lymphadenitis
DOID:1607	hypoglycemic coma
DOID:161	keratosis
DOID:1612	breast cancer
DOID:1614	male breast cancer
DOID:1618	breast fibroadenoma
DOID:162	cancer
DOID:1627	intraductal papilloma
DOID:1631	benign breast phyllodes tumor
DOID:1638	central nervous system tuberculosis
DOID:1639	skeletal tuberculosis
DOID:1657	ventricular septal defect
DOID:166	melanotic neuroectodermal tumor
DOID:1664	pineoblastoma
DOID:1673	pneumothorax
DOID:1678	chronic interstitial cystitis
DOID:1679	cystitis
DOID:1681	heart septal defect
DOID:1682	congenital heart disease
DOID:1686	glaucoma
DOID:1687	neovascular glaucoma
DOID:169	neuroendocrine tumor
DOID:1697	ichthyosis
DOID:1699	congenital ichthyosiform erythroderma
DOID:1712	aortic valve stenosis
DOID:1724	duodenal ulcer
DOID:1727	retinal vein occlusion
DOID:1731	histoplasmosis
DOID:1733	cryptosporidiosis
DOID:1737	duodenal benign neoplasm
DOID:1742	drug psychosis
DOID:1749	squamous cell carcinoma
DOID:175	vascular cancer
DOID:1752	ocular melanoma
DOID:1754	mitral valve stenosis
DOID:1762	cheilitis
DOID:1770	toxic megacolon
DOID:1786	adrenal rest tumor
DOID:1787	pericarditis
DOID:1788	peritoneal mesothelioma
DOID:1791	peritoneal carcinoma
DOID:1793	pancreatic cancer
DOID:1798	pancreatic endocrine carcinoma
DOID:1799	islet cell tumor
DOID:180	ossifying fibroma
DOID:1800	neuroendocrine carcinoma
DOID:182	calcinosis
DOID:1824	status epilepticus
DOID:1826	epilepsy
DOID:1829	urethral stricture
DOID:184	bone cancer
DOID:1849	cannabis dependence
DOID:1852	intrahepatic cholestasis
DOID:1862	jaw cancer
DOID:1866	giant cell reparative granuloma
DOID:1875	impotence
DOID:1882	atrial heart septal defect
DOID:1883	hepatitis C
DOID:1884	viral hepatitis
DOID:1896	sigmoid neoplasm
DOID:1907	malignant fibroxanthoma
DOID:1909	melanoma
DOID:1911	endodermal sinus tumor
DOID:192	sex cord-gonadal stromal tumor
DOID:1920	hyperuricemia
DOID:1921	Klinefelter's syndrome
DOID:1924	hypogonadism
DOID:1925	Coffin-Siris syndrome
DOID:1926	Gaucher's disease
DOID:1933	Rubinstein-Taybi syndrome
DOID:1935	Bardet-Biedl syndrome
DOID:1936	atherosclerosis
DOID:1947	trichomoniasis
DOID:1949	cholecystitis
DOID:1963	fallopian tube carcinoma
DOID:1967	leiomyosarcoma
DOID:1969	cerebral palsy
DOID:1974	adenosarcoma
DOID:1993	rectum cancer
DOID:1998	Lutembacher's syndrome
DOID:2001	neuroma
DOID:2018	hyperinsulinism
DOID:2034	encephalomalacia
DOID:2043	hepatitis B
DOID:2044	drug-induced hepatitis
DOID:2047	hepatitis D
DOID:2048	autoimmune hepatitis
DOID:205	hyperostosis
DOID:2051	maxillary sinusitis
DOID:2058	chronic mucocutaneous candidiasis
DOID:206	hereditary multiple exostoses
DOID:2065	syringoma
DOID:2074	intestinal perforation
DOID:2089	constipation
DOID:2093	vulvar melanoma
DOID:2106	myotonia congenita
DOID:2112	cystoisosporiasis
DOID:2113	coccidiosis
DOID:2123	tularemia
DOID:2149	urogenital tuberculosis
DOID:216	dental caries
DOID:2170	vaginitis
DOID:2173	eyelid neoplasm
DOID:2174	ocular cancer
DOID:2187	amelogenesis imperfecta
DOID:219	colon cancer
DOID:2211	factor XIII deficiency
DOID:2213	hemorrhagic disease
DOID:2218	blood platelet disease
DOID:2224	essential thrombocythemia
DOID:2228	thrombocytosis
DOID:223	basilar artery insufficiency
DOID:2237	hepatitis
DOID:224	transient cerebral ischemia
DOID:2247	spondylosis
DOID:227	ankylosis
DOID:2272	vulvovaginal candidiasis
DOID:2273	vulvovaginitis
DOID:2275	pharyngitis
DOID:2280	hidradenitis suppurativa
DOID:2282	hidradenitis
DOID:2297	leptospirosis
DOID:2300	spondylolysis
DOID:2312	nocardiosis
DOID:2316	brain ischemia
DOID:2320	obstructive lung disease
DOID:2326	gastroenteritis
DOID:2338	mandibular cancer
DOID:2340	craniosynostosis
DOID:2349	arteriosclerosis
DOID:2352	hemochromatosis
DOID:2354	myelophthisic anemia
DOID:2355	anemia
DOID:2361	macrocytic anemia
DOID:2364	post-thrombotic syndrome
DOID:2365	West Nile encephalitis
DOID:2373	hereditary elliptocytosis
DOID:2377	multiple sclerosis
DOID:2378	relapsing-remitting multiple sclerosis
DOID:2382	kernicterus
DOID:2383	neonatal jaundice
DOID:2384	Wernicke encephalopathy
DOID:2394	ovarian cancer
DOID:2409	rhinosporidiosis
DOID:2411	granular cell tumor
DOID:2426	gangliocytoma
DOID:2436	glomangioma
DOID:2444	hyperpituitarism
DOID:2449	acromegaly
DOID:2451	protein S deficiency
DOID:2452	thrombophilia
DOID:2476	hereditary spastic paraplegia
DOID:2477	motor peripheral neuropathy
DOID:248	trachea leiomyoma
DOID:2481	infantile epileptic encephalopathy
DOID:2493	gastric antral vascular ectasia
DOID:2494	angiodysplasia
DOID:2510	Kluver-Bucy syndrome
DOID:2513	basal cell carcinoma
DOID:2518	orchitis
DOID:252	alcoholic psychosis
DOID:2527	nephrosis
DOID:2533	splenic infarction
DOID:2548	reflex epilepsy
DOID:255	hemangioma
DOID:2556	relapsing polychondritis
DOID:2560	morphine dependence
DOID:2562	suppurative periapical periodontitis
DOID:2566	corneal dystrophy
DOID:2568	cervicitis
DOID:2569	retinal drusen
DOID:2580	rhizomelic chondrodysplasia punctata
DOID:2581	chondrodysplasia punctata
DOID:2583	agammaglobulinemia
DOID:2590	familial nephrotic syndrome
DOID:2598	laryngeal benign neoplasm
DOID:2600	laryngeal carcinoma
DOID:2602	chondroma
DOID:2609	adenomyoma
DOID:2615	papilloma
DOID:2626	choroid plexus papilloma
DOID:263	kidney cancer
DOID:2634	cystadenoma
DOID:2636	ovarian Brenner tumor
DOID:264	hemangiopericytoma
DOID:2640	struma ovarii
DOID:2643	perivascular epithelioid cell tumor
DOID:2645	benign mesothelioma
DOID:2648	sebaceous adenoma
DOID:2649	chondroblastoma
DOID:2653	benign fibrous mesothelioma
DOID:2658	dermoid cyst
DOID:2661	myoepithelioma
DOID:2664	sweat gland neoplasm
DOID:2668	mesenchymoma
DOID:2671	transitional cell carcinoma
DOID:2683	adenofibroma
DOID:2689	lymphangiosarcoma
DOID:2691	myoma
DOID:2696	Leydig cell tumor
DOID:2702	pigmented villonodular synovitis
DOID:2703	synovitis
DOID:2708	mushroom workers' lung
DOID:2710	sick building syndrome
DOID:2712	phimosis
DOID:2718	hemopneumothorax
DOID:2722	acrodermatitis
DOID:2723	dermatitis
DOID:2725	capillary hemangioma
DOID:2729	dyskeratosis congenita
DOID:2730	epidermolysis bullosa
DOID:2733	skin atrophy
DOID:2738	pseudoxanthoma elasticum
DOID:2741	bilirubin metabolic disorder
DOID:2744	pyelitis
DOID:2749	glycogen storage disease I
DOID:2751	glycogen storage disease VIII
DOID:2769	tic disorder
DOID:2772	irritant dermatitis
DOID:2773	contact dermatitis
DOID:2776	adamantinoma
DOID:2790	necatoriasis
DOID:2797	idiopathic interstitial pneumonia
DOID:2799	bronchiolitis obliterans
DOID:28	endocrine system disease
DOID:2810	middle lobe syndrome
DOID:2815	cranial nerve malignant neoplasm
DOID:2828	acalculous cholecystitis
DOID:2832	geotrichosis
DOID:2834	acquired polycythemia
DOID:2841	asthma
DOID:2842	Jervell-Lange Nielsen syndrome
DOID:2843	long QT syndrome
DOID:2846	bruxism
DOID:285	hairy cell leukemia
DOID:2855	hyperthyroxinemia
DOID:2856	euthyroid sick syndrome
DOID:2859	hemoglobin C disease
DOID:2861	congenital nonspherocytic hemolytic anemia
DOID:2862	glucosephosphate dehydrogenase deficiency
DOID:2883	prostatic adenoma
DOID:289	endometriosis
DOID:2891	thyroid adenoma
DOID:2908	Treacher Collins syndrome
DOID:2913	acute pancreatitis
DOID:2917	cryoglobulinemia
DOID:2920	membranoproliferative glomerulonephritis
DOID:2921	glomerulonephritis
DOID:2929	Newcastle disease
DOID:2934	aleutian mink disease
DOID:2942	bronchiolitis
DOID:2945	severe acute respiratory syndrome
DOID:2957	pulmonary tuberculosis
DOID:2960	photosensitive trichothiodystrophy
DOID:2962	Cockayne syndrome
DOID:2964	periarthritis
DOID:2972	renal artery obstruction
DOID:2973	kidney cortex necrosis
DOID:2975	cystic kidney disease
DOID:2977	primary hyperoxaluria
DOID:2981	kidney papillary necrosis
DOID:2982	perinephritis
DOID:2983	anuria
DOID:2986	IgA glomerulonephritis
DOID:2987	familial Mediterranean fever
DOID:2988	antiphospholipid syndrome
DOID:2997	Sertoli-Leydig cell tumor
DOID:2998	testicular cancer
DOID:2999	granulosa cell tumor
DOID:3007	breast ductal carcinoma
DOID:3008	invasive ductal carcinoma
DOID:3010	lobular neoplasia
DOID:3012	Li-Fraumeni syndrome
DOID:3025	acinar cell carcinoma
DOID:3030	mucinous adenocarcinoma
DOID:3042	allergic contact dermatitis
DOID:3047	Wissler's syndrome
DOID:3049	Churg-Strauss syndrome
DOID:3055	paratyphoid fever
DOID:3068	glioblastoma multiforme
DOID:3069	astrocytoma
DOID:3070	malignant glioma
DOID:3071	gliosarcoma
DOID:3074	giant cell glioblastoma
DOID:308	early myoclonic encephalopathy
DOID:3082	interstitial lung disease
DOID:3083	chronic obstructive pulmonary disease
DOID:3086	gingival overgrowth
DOID:3087	gingivitis
DOID:3093	nervous system cancer
DOID:3098	small cell sarcoma
DOID:3103	thoracic outlet syndrome
DOID:3107	toxascariasis
DOID:3108	ascaridiasis
DOID:3109	idiopathic CD4-positive T-lymphocytopenia
DOID:3110	papillary cystadenocarcinoma
DOID:3111	cystadenocarcinoma
DOID:3112	papillary adenocarcinoma
DOID:3113	papillary carcinoma
DOID:3114	serous cystadenocarcinoma
DOID:3121	gallbladder cancer
DOID:3122	gastric outlet obstruction
DOID:3127	proctitis
DOID:3128	anus disease
DOID:3132	porphyria cutanea tarda
DOID:3133	acute porphyria
DOID:3136	scalp dermatosis
DOID:3140	scleredema adultorum
DOID:3144	cutis laxa
DOID:3145	hyperlipoproteinemia type III
DOID:3146	lipid metabolism disorder
DOID:3149	keratoacanthoma
DOID:3153	lipomatosis
DOID:3158	hand dermatosis
DOID:3165	skin benign neoplasm
DOID:3168	squamous cell neoplasm
DOID:318	progressive muscular atrophy
DOID:319	spinal cord disease
DOID:3191	nemaline myopathy
DOID:3192	neurilemmoma
DOID:3209	junctional epidermolysis bullosa
DOID:322	myelitis
DOID:3222	causalgia
DOID:3225	tracheal disease
DOID:3227	tracheal stenosis
DOID:3234	central nervous system lymphoma
DOID:3241	lipid pneumonia
DOID:3247	rhabdomyosarcoma
DOID:3262	phagocyte bactericidal dysfunction
DOID:3265	chronic granulomatous disease
DOID:327	syringomyelia
DOID:3275	thymoma
DOID:3277	thymus cancer
DOID:3298	vaccinia
DOID:3302	chordoma
DOID:3304	germinoma
DOID:3305	teratocarcinoma
DOID:3307	teratoma
DOID:3308	embryonal carcinoma
DOID:3309	neurodermatitis
DOID:331	central nervous system disease
DOID:3310	atopic dermatitis
DOID:3312	bipolar disorder
DOID:3314	angiomyolipoma
DOID:332	amyotrophic lateral sclerosis
DOID:3321	gangliosidosis GM2
DOID:3322	gangliosidosis GM1
DOID:3325	hyperglobulinemic purpura
DOID:3326	purpura
DOID:3327	partial motor epilepsy
DOID:3328	temporal lobe epilepsy
DOID:3330	partial sensory epilepsy
DOID:3331	frontal lobe epilepsy
DOID:3332	haemonchiasis
DOID:334	histrionic personality disorder
DOID:3341	osteitis fibrosa
DOID:3342	bone inflammation disease
DOID:3345	xanthomatosis
DOID:3355	fibrosarcoma
DOID:3362	coronary aneurysm
DOID:3371	chondrosarcoma
DOID:3373	juxtacortical osteosarcoma
DOID:3382	liposarcoma
DOID:3385	bacterial vaginosis
DOID:3388	periodontal disease
DOID:3390	palmoplantar keratosis
DOID:3401	inappropriate ADH syndrome
DOID:3405	histiocytosis
DOID:341	peripheral vascular disease
DOID:3410	carotid artery thrombosis
DOID:3419	optic nerve neoplasm
DOID:3437	laryngitis
DOID:3454	brain infarction
DOID:3456	cervix erosion
DOID:3457	invasive lobular carcinoma
DOID:3459	breast carcinoma
DOID:3478	iris cancer
DOID:3479	uveal cancer
DOID:348	blepharochalasis
DOID:3481	septicemic plague
DOID:3486	necrobiosis lipoidica
DOID:3488	cellulitis
DOID:349	systemic mastocytosis
DOID:3490	Noonan syndrome
DOID:3491	Turner syndrome
DOID:3492	mixed connective tissue disease
DOID:3493	signet ring cell adenocarcinoma
DOID:350	mastocytosis
DOID:3512	neurofibrosarcoma
DOID:3522	lateral medullary syndrome
DOID:3523	brain stem infarction
DOID:3525	middle cerebral artery infarction
DOID:3526	cerebral infarction
DOID:3527	cerebral arterial disease
DOID:3528	anterior cerebral artery infarction
DOID:3540	choroid plexus cancer
DOID:3541	cerebral ventricle cancer
DOID:355	mast-cell sarcoma
DOID:3557	superior mesenteric artery syndrome
DOID:3558	duodenal obstruction
DOID:3559	pseudomyxoma peritonei
DOID:3565	meningioma
DOID:3571	liver cancer
DOID:3572	intracranial sinus thrombosis
DOID:3574	lateral sinus thrombosis
DOID:3575	cavernous sinus thrombosis
DOID:3576	sagittal sinus thrombosis
DOID:3577	Sertoli cell tumor
DOID:3578	ovarian gonadoblastoma
DOID:3579	testicular gonadoblastoma
DOID:3587	pancreatic ductal carcinoma
DOID:3590	gestational trophoblastic neoplasm
DOID:3594	choriocarcinoma
DOID:3596	placental site trophoblastic tumor
DOID:3602	toxic encephalopathy
DOID:3603	mucinous cystadenocarcinoma
DOID:361	cervix endometriosis
DOID:3611	acute retinal necrosis syndrome
DOID:3614	Kallmann syndrome
DOID:3616	angiolipoma
DOID:3618	epidural neoplasm
DOID:3620	central nervous system cancer
DOID:3627	aortic aneurysm
DOID:363	uterine cancer
DOID:3635	congenital myasthenic syndrome
DOID:3642	empty sella syndrome
DOID:3644	hypothalamic neoplasm
DOID:3649	pyruvate decarboxylase deficiency
DOID:3650	lactic acidosis
DOID:3652	Leigh disease
DOID:3660	wheat allergy
DOID:3663	cutaneous mastocytosis
DOID:3665	diffuse cutaneous mastocytosis
DOID:3666	cutaneous solitary mastocytoma
DOID:3669	intermittent claudication
DOID:3671	pericoronitis
DOID:3672	rhabdoid cancer
DOID:3677	pulmonary plasma cell granuloma
DOID:3683	lung benign neoplasm
DOID:3689	brachial plexus neuritis
DOID:369	olfactory neuroblastoma
DOID:3690	brachial plexus neuropathy
DOID:3692	anal canal adenocarcinoma
DOID:3721	plasmacytoma
DOID:3733	theileriasis
DOID:3737	verrucous carcinoma
DOID:3748	esophagus squamous cell carcinoma
DOID:3753	Hermansky-Pudlak syndrome
DOID:3756	protein C deficiency
DOID:3770	pulmonary fibrosis
DOID:3777	granuloma annulare
DOID:3798	pleural empyema
DOID:3803	Crigler-Najjar syndrome
DOID:3805	porokeratosis
DOID:381	arthropathy
DOID:3817	cranial nerve palsy
DOID:3818	photoallergic dermatitis
DOID:3819	toxicodendron dermatitis
DOID:3821	posterior cerebral artery infarction
DOID:3827	congenital diaphragmatic hernia
DOID:3828	chromophobe adenoma
DOID:3829	pituitary adenoma
DOID:3840	craniopharyngioma
DOID:3847	papillary craniopharyngioma
DOID:3856	male reproductive organ cancer
DOID:3869	childhood medulloblastoma
DOID:3875	thrombophlebitis
DOID:3876	colonic pseudo-obstruction
DOID:3878	intestinal pseudo-obstruction
DOID:3883	Lynch syndrome
DOID:3891	placental insufficiency
DOID:3892	insulinoma
DOID:3893	hidrocystoma
DOID:3901	vulvitis
DOID:3904	bronchus carcinoma
DOID:3906	bronchial neoplasm
DOID:3908	non-small cell lung carcinoma
DOID:3910	lung adenocarcinoma
DOID:3933	anterior compartment syndrome
DOID:3946	pituitary-dependent Cushing's disease
DOID:3947	adrenal gland hyperfunction
DOID:3948	adrenocortical carcinoma
DOID:3950	adrenal carcinoma
DOID:3953	adrenal gland cancer
DOID:3963	thyroid carcinoma
DOID:3965	Merkel cell carcinoma
DOID:3968	papillary follicular thyroid adenocarcinoma
DOID:3969	papillary thyroid carcinoma
DOID:397	restrictive cardiomyopathy
DOID:3973	thyroid medullary carcinoma
DOID:3982	Meige syndrome
DOID:3983	oesophagostomiasis
DOID:3985	ostertagiasis
DOID:399	tuberculosis
DOID:3999	Bartholin's gland carcinoma
DOID:4007	bladder carcinoma
DOID:401	multidrug-resistant tuberculosis
DOID:402	oral tuberculosis
DOID:4023	linitis plastica
DOID:4024	scirrhous adenocarcinoma
DOID:4025	steatitis
DOID:4028	angioma serpiginosum
DOID:4029	gastritis
DOID:4031	eosinophilic gastroenteritis
DOID:404	gastrointestinal tuberculosis
DOID:4045	muscle cancer
DOID:407	hepatic tuberculosis
DOID:4071	duodenogastric reflux
DOID:4074	pancreatic adenocarcinoma
DOID:4078	tricuspid valve stenosis
DOID:4080	tricuspid valve insufficiency
DOID:4085	trophoblastic neoplasm
DOID:409	liver disease
DOID:4090	agnosia
DOID:4109	tick infestation
DOID:4123	nail disease
DOID:4131	erythrasma
DOID:4136	myxosarcoma
DOID:4140	biliary dyskinesia
DOID:4143	orbital cancer
DOID:4154	dentinogenesis imperfecta
DOID:4159	skin cancer
DOID:4163	ganglioneuroblastoma
DOID:4166	syphilis
DOID:417	hypersensitivity reaction type II disease
DOID:4175	Rh isoimmunization
DOID:418	systemic scleroderma
DOID:4184	pseudohypoparathyroidism
DOID:4188	echolalia
DOID:4189	mutism
DOID:419	scleroderma
DOID:4193	intracranial thrombosis
DOID:4195	hyperglycemia
DOID:4196	femoral neuropathy
DOID:420	hypertrichosis
DOID:4203	brain stem cancer
DOID:4205	cerebellum cancer
DOID:4223	pyoderma
DOID:4226	endometrial stromal sarcoma
DOID:423	myopathy
DOID:4231	histiocytoma
DOID:4233	clear cell sarcoma
DOID:4235	spindle cell sarcoma
DOID:4236	carcinosarcoma
DOID:4242	kidney sarcoma
DOID:4247	coronary restenosis
DOID:4248	coronary stenosis
DOID:4253	melorheostosis
DOID:4254	osteosclerosis
DOID:4260	gait apraxia
DOID:4265	angiomyoma
DOID:4267	akinetic mutism
DOID:4270	encephalitozoonosis
DOID:4271	microsporidiosis
DOID:4283	anal margin basal cell carcinoma
DOID:429	gynatresia
DOID:4305	bone giant cell tumor
DOID:4308	polyradiculoneuropathy
DOID:431	myofascial pain syndrome
DOID:4310	smooth muscle tumor
DOID:4313	epidermolysis bullosa acquisita
DOID:4320	non-gestational choriocarcinoma
DOID:4322	pilar sheath acanthoma
DOID:4325	Ebola hemorrhagic fever
DOID:4327	Marburg hemorrhagic fever
DOID:4329	Erdheim-Chester disease
DOID:4331	burning mouth syndrome
DOID:4336	tinea favosa
DOID:4337	tinea capitis
DOID:4359	amelanotic melanoma
DOID:4362	cervical cancer
DOID:4371	Schnitzler syndrome
DOID:4372	intracranial embolism
DOID:4374	silo filler's disease
DOID:4376	milk allergy
DOID:4377	egg allergy
DOID:4378	peanut allergy
DOID:4379	nut allergy
DOID:4386	myofibroma
DOID:4394	reticulohistiocytic granuloma
DOID:4398	pustulosis of palm and sole
DOID:4404	occupational dermatitis
DOID:4407	phototoxic dermatitis
DOID:4409	folliculitis
DOID:4411	hepatitis E
DOID:4418	cutaneous fibrous histiocytoma
DOID:4424	juvenile xanthogranuloma
DOID:4428	dyslexia
DOID:4430	somatostatinoma
DOID:4440	seminoma
DOID:4441	dysgerminoma
DOID:4448	macular degeneration
DOID:4449	macular retinal edema
DOID:445	Bartter disease
DOID:4450	renal cell carcinoma
DOID:4451	renal carcinoma
DOID:446	hyperaldosteronism
DOID:4465	papillary renal cell carcinoma
DOID:4468	clear cell adenocarcinoma
DOID:4479	pseudohypoaldosteronism
DOID:4483	rhinitis
DOID:4491	persian gulf syndrome
DOID:4500	hypokalemia
DOID:452	pleomorphic adenoma
DOID:4531	mucoepidermoid carcinoma
DOID:4535	hypotrichosis
DOID:4540	dysgraphia
DOID:4542	basophil adenoma
DOID:4543	retrograde amnesia
DOID:4545	mesenchymal chondrosarcoma
DOID:4550	anal gland neoplasm
DOID:4554	type C thymoma
DOID:4556	lung large cell carcinoma
DOID:4557	oral leukoedema
DOID:4558	Ludwig's angina
DOID:456	ascariasis
DOID:4562	subacute bacterial endocarditis
DOID:4607	biliary tract cancer
DOID:4608	common bile duct neoplasm
DOID:461	muscle benign neoplasm
DOID:4613	ulnar neuropathy
DOID:4617	periapical granuloma
DOID:4618	maxillary neoplasm
DOID:4621	holoprosencephaly
DOID:4624	Ollier disease
DOID:4626	hydranencephaly
DOID:4627	ideomotor apraxia
DOID:4644	epidermolysis bullosa simplex
DOID:4645	retinal cancer
DOID:4659	extracutaneous mastocytoma
DOID:4660	indolent systemic mastocytosis
DOID:4661	multiple chemical sensitivity
DOID:4671	freemartinism
DOID:4676	uremia
DOID:4677	keratitis
DOID:4692	endophthalmitis
DOID:4702	mongolian spot
DOID:4723	intracranial hypotension
DOID:4724	brain edema
DOID:4730	vasomotor rhinitis
DOID:4731	atrophic rhinitis
DOID:4734	calciphylaxis
DOID:474	histiocytoid hemangioma
DOID:4744	placenta accreta
DOID:4751	striatonigral degeneration
DOID:4752	multiple system atrophy
DOID:4762	vasculogenic impotence
DOID:4765	pulmonary blastoma
DOID:4772	mesoblastic nephroma
DOID:4773	congenital mesoblastic nephroma
DOID:479	angiokeratoma
DOID:4790	medulloepithelioma
DOID:4794	ependymoblastoma
DOID:4796	space motion sickness
DOID:4797	SM-AHNMD
DOID:4798	aggressive systemic mastocytosis
DOID:4817	ganglioneuroma
DOID:483	cavernous hemangioma
DOID:4830	adenosquamous carcinoma
DOID:4839	sebaceous adenocarcinoma
DOID:4840	sebaceous carcinoma
DOID:4844	benign ependymoma
DOID:4866	salivary gland adenoid cystic carcinoma
DOID:4873	anterior horn cell disease
DOID:4885	Colorado tick fever
DOID:4889	lymph node tuberculosis
DOID:4897	bile duct carcinoma
DOID:4908	anal carcinoma
DOID:4914	esophagus adenocarcinoma
DOID:4916	pituitary carcinoma
DOID:4927	Klatskin's tumor
DOID:4929	tubular adenocarcinoma
DOID:4947	cholangiocarcinoma
DOID:4948	gallbladder carcinoma
DOID:4952	postpoliomyelitis syndrome
DOID:4953	poliomyelitis
DOID:4959	epidermolysis bullosa dystrophica
DOID:4960	bone marrow cancer
DOID:4961	bone marrow disease
DOID:4962	pericardial tuberculosis
DOID:4968	Nelson syndrome
DOID:4969	Gerstmann syndrome
DOID:4970	prosopagnosia
DOID:4974	actinobacillosis
DOID:4976	elephantiasis
DOID:4977	lymphedema
DOID:4988	alcoholic pancreatitis
DOID:4989	pancreatitis
DOID:4997	Camurati-Engelmann disease
DOID:5003	eunuchism
DOID:5041	esophageal cancer
DOID:5050	Ehrlich tumor carcinoma
DOID:5052	melioidosis
DOID:5062	phencyclidine abuse
DOID:5063	basosquamous carcinoma
DOID:5076	mixed glioma
DOID:5078	ganglioglioma
DOID:5082	liver cirrhosis
DOID:5113	nutritional deficiency disease
DOID:5119	ovarian cyst
DOID:512	epididymal neoplasm
DOID:5138	leiomyomatosis
DOID:5151	plexiform neurofibroma
DOID:5154	borna disease
DOID:5158	pleural cancer
DOID:5160	arteriosclerosis obliterans
DOID:5162	arteriolosclerosis
DOID:5166	endometrial stromal tumor
DOID:519	aortitis
DOID:5199	ureteral obstruction
DOID:5212	congenital disorder of glycosylation
DOID:5223	infertility
DOID:5230	hepatoerythropoietic porphyria
DOID:5232	aortic valve prolapse
DOID:5240	retinal hemangioblastoma
DOID:5241	hemangioblastoma
DOID:525	central nervous system vasculitis
DOID:526	human immunodeficiency virus infectious disease
DOID:5273	cutaneous leiomyosarcoma
DOID:528	hydrarthrosis
DOID:529	blepharospasm
DOID:53	pituitary gland disease
DOID:5334	paraphimosis
DOID:5338	gingival hypertrophy
DOID:5340	anterograde amnesia
DOID:5364	pulmonary coin lesion
DOID:5375	hair follicle neoplasm
DOID:5381	bile duct adenoma
DOID:539	ophthalmoplegia
DOID:5392	acidophil adenoma
DOID:540	strabismus
DOID:5408	Paget's disease of bone
DOID:5419	schizophrenia
DOID:5426	premature ovarian failure
DOID:543	dystonia
DOID:5434	scrapie
DOID:5435	variant Creutzfeldt-Jakob disease
DOID:5442	eccrine acrospiroma
DOID:5445	syringocystadenoma papilliferum
DOID:5467	conjunctival cancer
DOID:5482	cystadenofibroma
DOID:552	pneumonia
DOID:5546	femoral cancer
DOID:5559	mediastinal cancer
DOID:557	kidney disease
DOID:5574	VIPoma
DOID:5577	gastrinoma
DOID:5583	lung giant cell carcinoma
DOID:5603	acute T cell leukemia
DOID:5612	spinal cancer
DOID:5614	eye disease
DOID:5644	tricuspid valve prolapse
DOID:5648	choroid plexus carcinoma
DOID:5656	cranial nerve disease
DOID:5679	retinal disease
DOID:5683	hereditary breast ovarian cancer
DOID:5690	atypical lipomatous tumor
DOID:57	aortic valve insufficiency
DOID:5702	pleomorphic liposarcoma
DOID:571	median neuropathy
DOID:5715	functionless pituitary adenoma
DOID:5723	optic atrophy
DOID:573	nerve compression syndrome
DOID:5733	salpingitis
DOID:574	peripheral nervous system disease
DOID:5759	sebaceous gland neoplasm
DOID:576	proteinuria
DOID:5766	pulmonary sclerosing hemangioma
DOID:5773	oral submucous fibrosis
DOID:5804	discrete subaortic stenosis
DOID:5805	subvalvular aortic stenosis
DOID:582	hemoglobinuria
DOID:5820	composite lymphoma
DOID:583	hemolytic anemia
DOID:5844	myocardial infarction
DOID:5845	anterolateral myocardial infarction
DOID:585	nephrolithiasis
DOID:5850	inferior myocardial infarction
DOID:5870	eosinophilic pneumonia
DOID:5875	retroperitoneal cancer
DOID:589	congenital hemolytic anemia
DOID:593	agoraphobia
DOID:5940	malignant peripheral nerve sheath tumor
DOID:5998	microglandular adenosis
DOID:6000	congestive heart failure
DOID:6039	uveal melanoma
DOID:606	Brown-Sequard syndrome
DOID:607	paraplegia
DOID:611	leukocyte-adhesion deficiency syndrome
DOID:6132	bronchitis
DOID:614	lymphopenia
DOID:615	leukopenia
DOID:6195	conjunctivitis
DOID:6196	reactive arthritis
DOID:620	blood protein disease
DOID:6201	pericardial mesothelioma
DOID:624	transient hypogammaglobulinemia of infancy
DOID:6245	renal oncocytoma
DOID:626	complement deficiency
DOID:6262	follicular dendritic cell sarcoma
DOID:6263	inflammatory breast carcinoma
DOID:627	severe combined immunodeficiency
DOID:6275	TSH producing pituitary tumor
DOID:628	combined T cell and B cell immunodeficiency
DOID:631	fibromyalgia
DOID:636	central pontine myelinolysis
DOID:6364	migraine
DOID:6367	acral lentiginous melanoma
DOID:6376	hypersplenism
DOID:639	acute disseminated encephalomyelitis
DOID:640	encephalomyelitis
DOID:6406	double outlet right ventricle
DOID:6420	pulmonary valve stenosis
DOID:643	progressive multifocal leukoencephalopathy
DOID:6432	pulmonary hypertension
DOID:6457	Cowden disease
DOID:646	viral encephalitis
DOID:648	kuru
DOID:6536	plasma cell neoplasm
DOID:6543	acne
DOID:6548	angiomatous meningioma
DOID:6576	childhood optic nerve glioma
DOID:6590	spondylitis
DOID:660	adrenal cortex cancer
DOID:668	myositis ossificans
DOID:6688	autoimmune lymphoproliferative syndrome
DOID:6692	Barre-Lieou syndrome
DOID:6712	anterior spinal artery syndrome
DOID:672	spleen cancer
DOID:6725	spinal stenosis
DOID:6726	fibrillary astrocytoma
DOID:674	cleft palate
DOID:676	juvenile rheumatoid arthritis
DOID:6760	lung lymphoma
DOID:678	progressive supranuclear palsy
DOID:679	basal ganglia disease
DOID:680	tauopathy
DOID:681	progressive bulbar palsy
DOID:6823	pancreatoblastoma
DOID:683	motor neuritis
DOID:6846	familial melanoma
DOID:687	hepatoblastoma
DOID:688	embryonal cancer
DOID:6925	peroneal nerve paralysis
DOID:693	dental enamel hypoplasia
DOID:6977	pancreatic cholera
DOID:699	mitochondrial myopathy
DOID:701	dentin dysplasia
DOID:7033	anisakiasis
DOID:707	B-cell lymphoma
DOID:7146	Langerhans cell sarcoma
DOID:7147	ankylosing spondylitis
DOID:7148	rheumatoid arthritis
DOID:715	T-cell leukemia
DOID:7165	subacute thyroiditis
DOID:7166	thyroiditis
DOID:7177	anal canal squamous cell carcinoma
DOID:7188	autoimmune thyroiditis
DOID:720	normocytic anemia
DOID:727	premenstrual tension
DOID:7280	congenital epulis
DOID:730	urethral benign neoplasm
DOID:7305	astroblastoma
DOID:731	urinary system benign neoplasm
DOID:7319	axonal neuropathy
DOID:7365	Kimura disease
DOID:7427	anthrax disease
DOID:7457	enterobiasis
DOID:746	adenomatoid tumor
DOID:7475	diverticulitis
DOID:75	lymphatic system disease
DOID:750	peptic ulcer disease
DOID:7518	inhibited female orgasm
DOID:752	peptic ulcer perforation
DOID:7549	ceruminoma
DOID:7551	gonorrhea
DOID:7566	eccrine porocarcinoma
DOID:758	situs inversus
DOID:7608	parathyroid adenoma
DOID:7633	macular holes
DOID:767	muscular atrophy
DOID:769	neuroblastoma
DOID:7693	abdominal aortic aneurysm
DOID:77	gastrointestinal system disease
DOID:7725	epilepsy with generalized tonic-clonic seizures
DOID:7736	retinal telangiectasia
DOID:783	end stage renal failure
DOID:784	chronic kidney disease
DOID:7880	luteoma
DOID:7912	mixed oligodendroglioma-astrocytoma
DOID:7998	hyperthyroidism
DOID:8007	Pancoast tumor
DOID:801	hemarthrosis
DOID:807	carotid artery occlusion
DOID:811	lipodystrophy
DOID:8125	osteochondrosis
DOID:813	septic arthritis
DOID:819	mediastinitis
DOID:820	myocarditis
DOID:823	periapical periodontitis
DOID:824	periodontitis
DOID:8252	chronic rhinitis
DOID:8283	peritonitis
DOID:8295	scabies
DOID:83	cataract
DOID:8337	appendicitis
DOID:8398	osteoarthritis
DOID:8399	trombiculiasis
DOID:84	osteochondritis dissecans
DOID:841	extrinsic allergic alveolitis
DOID:8411	kidney angiomyolipoma
DOID:8432	polycythemia
DOID:8437	intestinal obstruction
DOID:8438	afferent loop syndrome
DOID:8440	ileus
DOID:8442	paralytic ileus
DOID:8445	intestinal volvulus
DOID:8455	pyridoxine deficiency anemia
DOID:8456	choline deficiency disease
DOID:8457	pellagra
DOID:8463	corneal ulcer
DOID:8465	retinoschisis
DOID:8466	retinal degeneration
DOID:8469	influenza
DOID:8472	localized scleroderma
DOID:8476	Whipple disease
DOID:8478	actinomycosis
DOID:848	arthritis
DOID:8483	retinal artery occlusion
DOID:8488	polyhydramnios
DOID:8498	hereditary night blindness
DOID:8499	night blindness
DOID:850	lung disease
DOID:8501	fundus dystrophy
DOID:8505	dermatitis herpetiformis
DOID:8506	bullous pemphigoid
DOID:8508	subcorneal pustular dermatosis
DOID:8515	Cor pulmonale
DOID:853	polymyalgia rheumatica
DOID:8533	hypopharynx cancer
DOID:8536	herpes zoster
DOID:8541	Sezary's disease
DOID:8544	chronic fatigue syndrome
DOID:8545	malignant hyperthermia
DOID:8553	pyoderma gangrenosum
DOID:8557	oropharynx cancer
DOID:8564	lip cancer
DOID:8566	herpes simplex
DOID:8567	Hodgkin's lymphoma
DOID:8568	infectious mononucleosis
DOID:857	multiple carboxylase deficiency
DOID:8573	lichen nitidus
DOID:8577	ulcerative colitis
DOID:8580	malignant histiocytosis
DOID:8596	scarlet fever
DOID:8622	measles
DOID:8632	Kaposi's sarcoma
DOID:864	phlebitis
DOID:8643	duodenitis
DOID:8649	tongue cancer
DOID:865	vasculitis
DOID:8654	Hodgkin's lymphoma, mixed cellularity
DOID:8659	chickenpox
DOID:8677	perinatal necrotizing enterocolitis
DOID:8681	paraneoplastic polyneuropathy
DOID:8683	myeloid sarcoma
DOID:869	cholesteatoma
DOID:8692	myeloid leukemia
DOID:870	neuropathy
DOID:8704	genital herpes
DOID:8712	neurofibromatosis
DOID:8717	decubitus ulcer
DOID:8725	vascular dementia
DOID:8729	milker's nodule
DOID:8731	carotid body cancer
DOID:8738	leukoplakia of penis
DOID:874	bacterial pneumonia
DOID:8741	seborrheic dermatitis
DOID:8743	erythema infectiosum
DOID:876	pyomyositis
DOID:8761	megakaryocytic leukemia
DOID:8771	contagious pustular dermatitis
DOID:8778	Crohn's disease
DOID:8781	rubella
DOID:8805	intermediate coronary syndrome
DOID:883	parasitic helminthiasis infectious disease
DOID:884	metagonimiasis
DOID:885	fascioliasis
DOID:8850	salivary gland cancer
DOID:8858	tonsil cancer
DOID:8861	pulmonary subvalvular stenosis
DOID:8866	actinic keratosis
DOID:8867	molluscum contagiosum
DOID:8869	neuromyelitis optica
DOID:8881	rosacea
DOID:8886	chorioretinitis
DOID:8892	pityriasis rosea
DOID:8893	psoriasis
DOID:891	progressive myoclonus epilepsy
DOID:8923	skin melanoma
DOID:8929	atrophic gastritis
DOID:8931	Evans' syndrome
DOID:8936	plantar fascial fibromatosis
DOID:8943	lattice corneal dystrophy
DOID:8947	diabetic retinopathy
DOID:8955	sideroblastic anemia
DOID:8956	cowpox
DOID:898	autosomal dominant polycystic kidney disease
DOID:8986	narcolepsy
DOID:8991	cervix uteri carcinoma in situ
DOID:90	degenerative disc disease
DOID:900	hepatopulmonary syndrome
DOID:9008	psoriatic arthritis
DOID:9021	esophageal leukoplakia
DOID:9036	parotid gland cancer
DOID:905	Zellweger syndrome
DOID:9060	pityriasis versicolor
DOID:9063	Ritter's disease
DOID:9065	leishmaniasis
DOID:9072	lethal midline granuloma
DOID:9074	systemic lupus erythematosus
DOID:9080	macroglobulinemia
DOID:9088	parapsoriasis
DOID:9091	REM sleep behavior disorder
DOID:9111	cutaneous leishmaniasis
DOID:9113	granuloma inguinale
DOID:9119	acute myeloid leukemia
DOID:9120	amyloidosis
DOID:9123	eczema herpeticum
DOID:914	peliosis hepatis
DOID:9146	visceral leishmaniasis
DOID:9153	variola minor
DOID:9155	mucocutaneous leishmaniasis
DOID:9159	gas gangrene
DOID:9169	Wiskott-Aldrich syndrome
DOID:9181	amebiasis
DOID:9182	pemphigus
DOID:92	speech disorder
DOID:9201	lichen planus
DOID:9207	periodic limb movement disorder
DOID:9210	geniculate herpes zoster
DOID:9220	central sleep apnea
DOID:9230	pompholyx
DOID:9240	erythromelalgia
DOID:9245	Alagille syndrome
DOID:9246	cerebral amyloid angiopathy
DOID:9254	mast-cell leukemia
DOID:9255	frontotemporal dementia
DOID:9256	colorectal cancer
DOID:9258	Waardenburg's syndrome
DOID:9261	nasopharynx carcinoma
DOID:9263	homocystinuria
DOID:9269	maple syrup urine disease
DOID:9273	citrullinemia
DOID:9274	hyperlysinemia
DOID:9275	tyrosinemia
DOID:9282	ocular hypertension
DOID:9286	priapism
DOID:9296	cleft lip
DOID:9305	splenic tuberculosis
DOID:931	monieziasis
DOID:9317	lymphangitis
DOID:9335	scotoma
DOID:934	viral infectious disease
DOID:9341	urethral diverticulum
DOID:9348	carotid artery dissection
DOID:9351	diabetes mellitus
DOID:9352	type 2 diabetes mellitus
DOID:936	brain disease
DOID:9362	status asthmaticus
DOID:9368	keratoconjunctivitis
DOID:9369	orbital plasma cell granuloma
DOID:9370	exophthalmos
DOID:9383	iridocyclitis
DOID:9392	tracheitis
DOID:9395	croup
DOID:9398	epiglottitis
DOID:9402	epididymitis
DOID:9406	hypopituitarism
DOID:9409	diabetes insipidus
DOID:9410	panhypopituitarism
DOID:9423	blepharitis
DOID:9427	hypertensive encephalopathy
DOID:9428	intracranial hypertension
DOID:9446	cholangitis
DOID:9452	fatty liver disease
DOID:946	dientamoebiasis
DOID:9463	otitis externa
DOID:9470	bacterial meningitis
DOID:9471	meningitis
DOID:9477	pulmonary embolism
DOID:9478	postpartum depression
DOID:950	dacryoadenitis
DOID:9503	Loeffler syndrome
DOID:9507	ethmoid sinusitis
DOID:9513	plasmacytic leukemia
DOID:9531	latent syphilis
DOID:9537	Lassa fever
DOID:955	benign neurilemmoma
DOID:9553	adrenal gland disease
DOID:9562	primary ciliary dyskinesia
DOID:9563	bronchiectasis
DOID:9565	dextrocardia
DOID:9584	Venezuelan equine encephalitis
DOID:9588	encephalitis
DOID:9597	Krukenberg carcinoma
DOID:9598	fasciitis
DOID:96	staphyloenterotoxemia
DOID:9600	plantar fasciitis
DOID:9602	necrotizing fasciitis
DOID:9620	vesicoureteral reflux
DOID:963	episodic ataxia
DOID:9637	stomatitis
DOID:9640	sarcocystosis
DOID:9643	babesiosis
DOID:9649	congenital nystagmus
DOID:9651	systolic heart failure
DOID:9655	oral mucosa leukoplakia
DOID:9663	aphthous stomatitis
DOID:9667	placental abruption
DOID:9672	noma
DOID:9675	pulmonary emphysema
DOID:9681	cervical incompetence
DOID:9682	yellow fever
DOID:9699	ophthalmia neonatorum
DOID:970	tenosynovitis
DOID:9700	bacterial conjunctivitis
DOID:971	tendinitis
DOID:9719	proliferative vitreoretinopathy
DOID:9726	vitreous detachment
DOID:9733	renal tuberculosis
DOID:9740	postcholecystectomy syndrome
DOID:9741	biliary tract disease
DOID:9744	type 1 diabetes mellitus
DOID:9746	hemorrhoid
DOID:9765	emphysematous cholecystitis
DOID:9768	heart aneurysm
DOID:9775	diastolic heart failure
DOID:9778	irritable bowel syndrome
DOID:9784	trichinosis
DOID:9786	bulbar polio
DOID:9790	toxocariasis
DOID:9801	tuberculous peritonitis
DOID:9809	hypersensitivity vasculitis
DOID:9828	neonatal abstinence syndrome
DOID:9834	hyperopia
DOID:9840	esotropia
DOID:9848	endolymphatic hydrops
DOID:9856	congenital syphilis
DOID:986	alopecia areata
DOID:9861	miliary tuberculosis
DOID:987	alopecia
DOID:9870	galactosemia
DOID:988	mitral valve prolapse
DOID:9884	muscular dystrophy
DOID:9888	alternating esotropia
DOID:9892	median arcuate ligament syndrome
DOID:9903	meibomian cyst
DOID:9905	follicular mucinosis
DOID:9909	hordeolum
DOID:9912	hydrocele
DOID:992	Omsk hemorrhagic fever
DOID:9931	Waterhouse-Friderichsen syndrome
DOID:9952	acute lymphocytic leukemia
DOID:9953	B- and T-cell mixed leukemia
DOID:9955	hypoplastic left heart syndrome
DOID:9957	periostitis
DOID:9958	hemometra
DOID:9965	toxoplasmosis
DOID:997	uterine inversion
DOID:9970	obesity
DOID:9972	hypervitaminosis A
DOID:9976	heroin dependence
DOID:998	eosinophilia-myalgia syndrome
DOID:999	hypereosinophilic syndrome
DOID:9993	hypoglycemia
MESH:D000006	Abdomen, Acute
MESH:D000126	Achlorhydria
MESH:D000142	Acidosis, Respiratory
MESH:D000153	Acne Keloid
MESH:D000170	Acrodynia
MESH:D000182	ACTH Syndrome, Ectopic
MESH:D000219	Adams-Stokes Syndrome
MESH:D000235	Adenolymphoma
MESH:D000370	Ageusia
MESH:D000402	Airway Obstruction
MESH:D000417	Albinism
MESH:D000419	Albuminuria
MESH:D000425	Alcohol Amnestic Disorder
MESH:D000707	Anaphylaxis
MESH:D000784	Aneurysm, Dissecting
MESH:D000785	Aneurysm, Infected
MESH:D000798	Angiomatosis
MESH:D000853	Anophthalmos
MESH:D001028	Aortopulmonary Septal Defect
MESH:D001039	Aphasia, Broca
MESH:D001041	Aphasia, Wernicke
MESH:D001079	Apudoma
MESH:D001139	Arnold-Chiari Malformation
MESH:D001159	Arterio-Arterial Fistula
MESH:D001167	Arteritis
MESH:D001169	Arthritis, Experimental
MESH:D001250	Asthma, Exercise-Induced
MESH:D001261	Pulmonary Atelectasis
MESH:D001264	Athetosis
MESH:D001361	Avitaminosis
MESH:D001747	Urinary Bladder Fistula
MESH:D001752	Blast Crisis
MESH:D001845	Bone Cysts
MESH:D001913	Bowen's Disease
MESH:D001922	Brain Abscess
MESH:D001924	Brain Concussion
MESH:D001935	Branchioma
MESH:D001990	Bronchiolitis, Viral
MESH:D002275	Carcinoid Heart Disease
MESH:D002276	Carcinoid Tumor
MESH:D002284	Carcinoma, Brown-Pearce
MESH:D002375	Catalepsy
MESH:D002385	Cataplexy
MESH:D002389	Catatonia
MESH:D002485	Cementoma
MESH:D002534	Hypoxia, Brain
MESH:D002543	Cerebral Hemorrhage
MESH:D002558	Cerebrospinal Fluid Otorrhea
MESH:D002559	Cerebrospinal Fluid Rhinorrhea
MESH:D002820	Hydatidiform Mole, Invasive
MESH:D002832	Choroid Hemorrhage
MESH:D002916	Chylothorax
MESH:D003027	Cluster Headache
MESH:D003236	Conjunctivitis, Viral
MESH:D003294	Seizures, Febrile
MESH:D003310	Cor Triatriatum
MESH:D003387	Cracked Tooth Syndrome
MESH:D003420	Crisscross Heart
MESH:D003639	Hearing Loss, Sudden
MESH:D003751	Dental Fistula
MESH:D003789	Dental Pulp Exposure
MESH:D003803	Dentigerous Cyst
MESH:D003873	Dermatitis, Exfoliative
MESH:D003926	Diabetic Coma
MESH:D003968	Diarrhea, Infantile
MESH:D004392	Dwarfism
MESH:D004404	Dysentery, Amebic
MESH:D004412	Dysmenorrhea
MESH:D004444	Echinococcosis, Hepatic
MESH:D004445	Echinococcosis, Pulmonary
MESH:D004480	Ectromelia
MESH:D004485	Eczema
MESH:D004489	Edema, Cardiac
MESH:D004541	Eisenmenger Complex
MESH:D004619	Embolism, Amniotic Fluid
MESH:D004620	Embolism, Fat
MESH:D004688	Encopresis
MESH:D004692	Endarteritis
MESH:D004714	Endometrial Hyperplasia
MESH:D004749	Entamoebiasis
MESH:D004751	Enteritis
MESH:D004834	Epilepsy, Post-Traumatic
MESH:D004839	Epiphyses, Slipped
MESH:D004863	Equinus Deformity
MESH:D004891	Erythema Induratum
MESH:D004893	Erythema Nodosum
MESH:D004915	Leukemia, Erythroblastic, Acute
MESH:D004919	Erythroplasia
MESH:D004934	Esophageal Cyst
MESH:D004937	Esophageal Fistula
MESH:D004939	Esophageal Perforation
MESH:D004940	Esophageal Stenosis
MESH:D005126	Eye Burns
MESH:D005129	Eye Foreign Bodies
MESH:D005271	Femur Head Necrosis
MESH:D005331	Fetomaternal Transfusion
MESH:D005497	Follicular Cyst
MESH:D005533	Foot Dermatoses
MESH:D005667	Furunculosis
MESH:D005884	Gingival Hemorrhage
MESH:D005885	Gingival Hyperplasia
MESH:D005888	Gingival Pocket
MESH:D005925	Glomus Jugulare Tumor
MESH:D006102	Granuloma, Laryngeal
MESH:D006104	Granuloma, Plasma Cell
MESH:D006259	Craniocerebral Trauma
MESH:D006317	Hearing Loss, Noise-Induced
MESH:D006327	Heart Block
MESH:D006342	Heart Rupture, Post-Infarction
MESH:D006390	Hemangioendothelioma
MESH:D006399	Hematocolpos
MESH:D006407	Hematoma, Epidural, Cranial
MESH:D006408	Hematoma, Subdural
MESH:D006450	Hemoglobin SC Disease
MESH:D006471	Gastrointestinal Hemorrhage
MESH:D006482	Hemorrhagic Fevers, Viral
MESH:D006521	Hepatitis, Chronic
MESH:D006525	Hepatitis, Viral, Human
MESH:D006549	Hernia, Diaphragmatic, Traumatic
MESH:D006550	Hernia, Femoral
MESH:D006553	Hernia, Obturator
MESH:D006555	Hernia, Ventral
MESH:D006560	Herpes Labialis
MESH:D006837	Hydroa Vacciniforme
MESH:D006848	Testicular Hydrocele
MESH:D006872	Hydropneumothorax
MESH:D006940	Hyperemia
MESH:D006944	Hyperglycemic Hyperosmolar Nonketotic Coma
MESH:D006960	Hyperoxaluria, Primary
MESH:D006968	Hypersensitivity, Delayed
MESH:D006969	Hypersensitivity, Immediate
MESH:D006996	Hypocalcemia
MESH:D007022	Hypotension
MESH:D007040	Hypoventilation
MESH:D007102	Immersion Foot
MESH:D007119	Immunoblastic Lymphadenopathy
MESH:D007331	Insulin Coma
MESH:D007333	Insulin Resistance
MESH:D007405	Intervertebral Disc Displacement
MESH:D007412	Intestinal Fistula
MESH:D007570	Jaw Cysts
MESH:D007627	Keloid
MESH:D007639	Keratoconjunctivitis, Infectious
MESH:D007669	Kidney Calculi
MESH:D007724	Vulvar Lichen Sclerosus
MESH:D007871	Leg Ulcer
MESH:D007925	Leriche Syndrome
MESH:D007953	Leukemia, Radiation-Induced
MESH:D007971	Leukoplakia
MESH:D008100	Liver Abscess
MESH:D008101	Liver Abscess, Amebic
MESH:D008108	Liver Diseases, Alcoholic
MESH:D008207	Lymphatic Metastasis
MESH:D008218	Lymphocytosis
MESH:D008309	Mallory-Weiss Syndrome
MESH:D008380	Marek Disease
MESH:D008476	Mediastinal Cyst
MESH:D008478	Mediastinal Emphysema
MESH:D008539	Meigs Syndrome
MESH:D008796	Metrorrhagia
MESH:D009062	Mouth Neoplasms
MESH:D009188	Myelitis, Transverse
MESH:D009207	Myoclonus
MESH:D009232	Myxoma
MESH:D009298	Nasal Polyps
MESH:D009349	Nematode Infections
MESH:D009669	Nose Neoplasms
MESH:D009807	Odontogenic Cysts
MESH:D009808	Odontogenic Tumors
MESH:D009810	Odontoma
MESH:D009917	Orbital Fractures
MESH:D009957	Oroantral Fistula
MESH:D010016	Osteoma
MESH:D010017	Osteoma, Osteoid
MESH:D010031	Otitis
MESH:D010157	Palatal Neoplasms
MESH:D010181	Pancreatic Cyst
MESH:D010192	Pancreatic Pseudocyst
MESH:D010236	Paraganglioma, Extra-Adrenal
MESH:D010241	Parakeratosis
MESH:D010322	Parvoviridae Infections
MESH:D010438	Peptic Ulcer Hemorrhage
MESH:D010508	Periodontal Abscess
MESH:D010514	Periodontal Pocket
MESH:D010591	Phantom Limb
MESH:D010915	Pityriasis
MESH:D010996	Pleural Effusion
MESH:D011007	Pneumocephalus
MESH:D011227	Pre-Excitation, Mahaim-Type
MESH:D011269	Pregnancy, Abdominal
MESH:D011274	Pregnancy, Tubal
MESH:D011289	Preleukemia
MESH:D011304	Presbycusis
MESH:D011536	Prurigo
MESH:D011539	Pruritus Vulvae
MESH:D011552	Pseudomonas Infections
MESH:D011696	Purpura, Thrombocytopenic
MESH:D011842	Radicular Cyst
MESH:D011855	Radiodermatitis
MESH:D012006	Rectovaginal Fistula
MESH:D012133	Respiratory Paralysis
MESH:D012142	Respiratory Tract Neoplasms
MESH:D012166	Retinal Hemorrhage
MESH:D012207	Rhabdomyoma
MESH:D012215	Rheumatic Nodule
MESH:D012218	Rheumatoid Nodule
MESH:D012221	Rhinitis, Allergic, Perennial
MESH:D012224	Rhinophyma
MESH:D012467	Salivary Gland Fistula
MESH:D012480	Salmonella Infections
MESH:D012517	Sarcoma, Yoshida
MESH:D012555	Schistosomiasis mansoni
MESH:D012585	Sciatica
MESH:D012593	Sclerema Neonatorum
MESH:D012770	Shock, Cardiogenic
MESH:D012830	Silicotuberculosis
MESH:D012848	Sinoatrial Block
MESH:D012883	Skin Ulcer
MESH:D012887	Skull Fractures
MESH:D012892	Sleep Deprivation
MESH:D013117	Spinal Cord Compression
MESH:D013128	Spinal Osteophytosis
MESH:D013145	Spirochaetales Infections
MESH:D013161	Splenic Rupture
MESH:D013207	Staphylococcal Skin Infections
MESH:D013217	Starvation
MESH:D013275	Stomach Rupture
MESH:D013277	Stomach Volvulus
MESH:D013345	Subarachnoid Hemorrhage
MESH:D013353	Subdural Effusion
MESH:D013362	Sublingual Gland Neoplasms
MESH:D013365	Submandibular Gland Neoplasms
MESH:D013369	Subphrenic Abscess
MESH:D013375	Substance Withdrawal Syndrome
MESH:D013471	Sunburn
MESH:D013479	Superior Vena Cava Syndrome
MESH:D013575	Syncope
MESH:D013612	Tachycardia, Ectopic Atrial
MESH:D013613	Tachycardia, Ectopic Junctional
MESH:D013614	Tachycardia, Paroxysmal
MESH:D013615	Tachycardia, Sinoatrial Nodal Reentry
MESH:D013616	Tachycardia, Sinus
MESH:D013706	Temporomandibular Joint Dysfunction Syndrome
MESH:D013746	Tetany
MESH:D013798	Thecoma
MESH:D013952	Thymus Hyperplasia
MESH:D014009	Onychomycosis
MESH:D014082	Tooth Fractures
MESH:D014098	Toothache
MESH:D014124	Toxoplasmosis, Animal
MESH:D014138	Tracheoesophageal Fistula
MESH:D014286	Trilogy of Fallot
MESH:D014339	Truncus Arteriosus, Persistent
MESH:D014399	Tuberculosis, Spinal
MESH:D014514	Ureteral Calculi
MESH:D014545	Urinary Calculi
MESH:D014550	Urinary Incontinence, Stress
MESH:D014592	Uterine Hemorrhage
MESH:D014595	Uterine Perforation
MESH:D014596	Uterine Prolapse
MESH:D014597	Uterine Rupture
MESH:D014647	Varicose Ulcer
MESH:D014653	Vascular Headaches
MESH:D014681	Velopharyngeal Insufficiency
MESH:D014693	Ventricular Fibrillation
MESH:D014694	Ventricular Outflow Obstruction
MESH:D014719	Vesicovaginal Fistula
MESH:D014804	Vitamin B Deficiency
MESH:D014823	Vitreous Hemorrhage
MESH:D014826	Vocal Cord Paralysis
MESH:D014869	Water Intoxication
MESH:D014895	Weil Disease
MESH:D015155	Esophageal Spasm, Diffuse
MESH:D015207	Osteoarthritis, Hip
MESH:D015218	Hyperostosis, Sternocostoclavicular
MESH:D015275	Tumor Lysis Syndrome
MESH:D015427	Reperfusion Injury
MESH:D015428	Myocardial Reperfusion Injury
MESH:D015436	Panniculitis, Peritoneal
MESH:D015448	Leukemia, B-Cell
MESH:D015465	Leukemia, Myeloid, Accelerated Phase
MESH:D015466	Leukemia, Myeloid, Chronic-Phase
MESH:D015472	Leukemia, Eosinophilic, Acute
MESH:D015615	Cystic Adenomatoid Malformation of Lung, Congenital
MESH:D015618	Histiocytosis, Sinus
MESH:D015663	Osteoporosis, Postmenopausal
MESH:D015745	Granuloma, Foreign-Body
MESH:D015769	Granuloma, Respiratory Tract
MESH:D015792	Retinal Dysplasia
MESH:D015807	Eye Injuries, Penetrating
MESH:D015831	Osteochondroma
MESH:D015838	Chondromatosis, Synovial
MESH:D015861	Retinal Neovascularization
MESH:D015878	Mydriasis
MESH:D016055	Urinary Retention
MESH:D016137	Spina Bifida Cystica
MESH:D016171	Torsades de Pointes
MESH:D016399	Lymphoma, T-Cell
MESH:D016400	Lymphoma, Large-Cell, Immunoblastic
MESH:D016469	Fungemia
MESH:D016470	Bacteremia
MESH:D016483	Lymphoma, AIDS-Related
MESH:D016523	Foot Ulcer
MESH:D016534	Cardiac Output, High
MESH:D016583	Enzootic Bovine Leukosis
MESH:D016757	Death, Sudden, Cardiac
MESH:D016774	Leishmaniasis, Diffuse Cutaneous
MESH:D016849	Keratitis, Herpetic
MESH:D016868	Serratia Infections
MESH:D016908	Gram-Positive Bacterial Infections
MESH:D017093	Liver Failure
MESH:D017114	Liver Failure, Acute
MESH:D017116	Low Back Pain
MESH:D017180	Tachycardia, Ventricular
MESH:D017190	Secernentea Infections
MESH:D017205	Spirurida Infections
MESH:D017254	Leukemic Infiltration
MESH:D017379	Hypertrophy, Left Ventricular
MESH:D017380	Hypertrophy, Right Ventricular
MESH:D017486	Acneiform Eruptions
MESH:D017514	Pityriasis Lichenoides
MESH:D017541	Aneurysm, False
MESH:D017542	Aneurysm, Ruptured
MESH:D017543	Iliac Aneurysm
MESH:D017564	Radiation Pneumonitis
MESH:D017566	Microvascular Angina
MESH:D017676	Lichen Planus, Oral
MESH:D017703	Retropharyngeal Abscess
MESH:D017719	Diabetic Foot
MESH:D017769	Ulnar Nerve Compression Syndromes
MESH:D017789	Granuloma, Pyogenic
MESH:D017887	Ossification of Posterior Longitudinal Ligament
MESH:D017890	Splenosis
MESH:D018126	Odontodysplasia
MESH:D018173	Circoviridae Infections
MESH:D018175	Birnaviridae Infections
MESH:D018199	Mixed Tumor, Mesodermal
MESH:D018200	Mixed Tumor, Mullerian
MESH:D018204	Neoplasms, Connective and Soft Tissue
MESH:D018205	Neoplasms, Adipose Tissue
MESH:D018209	Myelolipoma
MESH:D018210	Chondromatosis
MESH:D018216	Osteochondromatosis
MESH:D018218	Neoplasms, Fibrous Tissue
MESH:D018220	Fibroma, Desmoplastic
MESH:D018221	Fibromatosis, Abdominal
MESH:D018222	Fibromatosis, Aggressive
MESH:D018224	Myofibromatosis
MESH:D018230	Leiomyoma, Epithelioid
MESH:D018255	Adenomatosis, Pulmonary
MESH:D018256	Adenomatous Polyps
MESH:D018261	Mesothelioma, Cystic
MESH:D018295	Neoplasms, Basal Cell
MESH:D018321	Neurothekeoma
MESH:D018322	Angiofibroma
MESH:D018327	Hutchinson's Melanotic Freckle
MESH:D018333	Odontogenic Cyst, Calcifying
MESH:D018457	Placenta, Retained
MESH:D018487	Ventricular Dysfunction, Left
MESH:D018633	Pulmonary Atresia
MESH:D018658	Ventricular Septal Rupture
MESH:D018781	Tension-Type Headache
MESH:D018827	Carcinoma, Lewis Lung
MESH:D018886	Aphasia, Conduction
MESH:D018934	Fournier Gangrene
MESH:D019048	Prostatic Intraepithelial Neoplasia
MESH:D019226	Oral Ulcer
MESH:D019310	Pseudolymphoma
MESH:D019315	Retrobulbar Hemorrhage
MESH:D019320	Embolism, Paradoxical
MESH:D019446	Endotoxemia
MESH:D019449	Pouchitis
MESH:D019462	Syncope, Vasovagal
MESH:D019557	Dermatitis, Perioral
MESH:D019694	Hepatitis B, Chronic
MESH:D019698	Hepatitis C, Chronic
MESH:D019701	Hepatitis D, Chronic
MESH:D020016	Activated Protein C Resistance
MESH:D020019	Neurocysticercosis
MESH:D020042	Histiocytic Necrotizing Lymphadenitis
MESH:D020047	Rectocele
MESH:D020145	Basal Ganglia Hemorrhage
MESH:D020146	Putaminal Hemorrhage
MESH:D020149	Manganese Poisoning
MESH:D020177	Hypersomnolence, Idiopathic
MESH:D020179	Jet Lag Syndrome
MESH:D020183	Nocturnal Paroxysmal Dystonia
MESH:D020198	Intracranial Hemorrhage, Traumatic
MESH:D020199	Hematoma, Subdural, Acute
MESH:D020200	Hematoma, Subdural, Chronic
MESH:D020201	Brain Hemorrhage, Traumatic
MESH:D020202	Cerebral Hemorrhage, Traumatic
MESH:D020203	Brain Stem Hemorrhage, Traumatic
MESH:D020204	Skull Fracture, Depressed
MESH:D020205	Skull Fracture, Basilar
MESH:D020206	Subarachnoid Hemorrhage, Traumatic
MESH:D020207	Coma, Post-Head Injury
MESH:D020210	Central Cord Syndrome
MESH:D020211	Autonomic Dysreflexia
MESH:D020215	Carotid Artery, Internal, Dissection
MESH:D020216	Carotid-Cavernous Sinus Fistula
MESH:D020217	Vertebral Artery Dissection
MESH:D020222	Abducens Nerve Injury
MESH:D020246	Venous Thrombosis
MESH:D020256	Choroidal Neovascularization
MESH:D020260	Heavy Metal Poisoning, Nervous System
MESH:D020261	Arsenic Poisoning
MESH:D020262	Mercury Poisoning, Nervous System
MESH:D020263	Lead Poisoning, Nervous System
MESH:D020264	Lead Poisoning, Nervous System, Childhood
MESH:D020265	Lead Poisoning, Nervous System, Adult
MESH:D020267	MPTP Poisoning
MESH:D020270	Alcohol Withdrawal Seizures
MESH:D020299	Intracranial Hemorrhage, Hypertensive
MESH:D020300	Intracranial Hemorrhages
MESH:D020314	Central Nervous System Fungal Infections
MESH:D020336	Paraparesis, Spastic
MESH:D020361	Paraneoplastic Syndromes, Nervous System
MESH:D020362	Paraneoplastic Cerebellar Degeneration
MESH:D020370	Osteoarthritis, Knee
MESH:D020385	Myokymia
MESH:D020430	Cubital Tunnel Syndrome
MESH:D020518	Focal Nodular Hyperplasia
MESH:D020752	Neurocutaneous Syndromes
MESH:D020757	Amaurosis Fugax
MESH:D020779	Sinus Pericranii
MESH:D020785	Central Nervous System Vascular Malformations
MESH:D020787	Central Nervous System Venous Angioma
MESH:D020792	Salivary Calculi
MESH:D020806	Central Nervous System Bacterial Infections
MESH:D020807	Central Nervous System Parasitic Infections
MESH:D020809	Central Nervous System Helminthiasis
MESH:D020819	Perimeningeal Infections
MESH:D020852	Lyme Neuroborreliosis
MESH:D020857	Hallux Limitus
MESH:D020923	REM Sleep Parasomnias
MESH:D020945	Lupus Vasculitis, Central Nervous System
MESH:D025241	Spondylarthritis
MESH:D028226	Amyloidosis, Familial
MESH:D029481	Bronchitis, Chronic
MESH:D030361	Papillomavirus Infections
MESH:D031368	Zoster Sine Herpete
MESH:D034141	Hypoalbuminemia
MESH:D037061	Metatarsalgia
MESH:D037801	Hammer Toe Syndrome
MESH:D038223	Post-Concussion Syndrome
MESH:D038642	Shaken Baby Syndrome
MESH:D038901	Mental Retardation, X-Linked
MESH:D041881	Cholecystitis, Acute
MESH:D042882	Gallstones
MESH:D043604	Glomus Tympanicum Tumor
MESH:D043963	Diverticulosis, Colonic
MESH:D044225	Piscirickettsiaceae Infections
MESH:D044504	Enterocolitis, Neutropenic
MESH:D045827	Cytophagaceae Infections
MESH:D045888	Ganglion Cysts
MESH:D046110	Hypertension, Pregnancy-Induced
MESH:D046151	Lingual Thyroid
MESH:D046290	Liver Abscess, Pyogenic
MESH:D046449	Hernia, Abdominal
MESH:D046608	Synkinesis
MESH:D046628	Sphincter of Oddi Dysfunction
MESH:D046648	Hematoma, Subdural, Intracranial
MESH:D046649	Hematoma, Subdural, Spinal
MESH:D047508	Massive Hepatic Necrosis
MESH:D047808	Adrenogenital Syndrome
MESH:D048550	Hepatic Insufficiency
MESH:D048629	Micronuclei, Chromosome-Defective
MESH:D049068	Plagiocephaly, Nonsynostotic
MESH:D049970	Graves Ophthalmopathy
MESH:D050032	Postpartum Thyroiditis
MESH:D050035	Sexual Infantilism
MESH:D050380	Monckeberg Medial Calcific Sclerosis
MESH:D050489	Bunion, Tailor's
MESH:D051261	Granulomatosis, Orofacial
MESH:D051298	Post-Traumatic Headache
MESH:D051299	Post-Dural Puncture Headache
MESH:D051474	Neuralgia, Postherpetic
MESH:D051527	Odontogenic Tumor, Squamous
MESH:D051556	Hyperbilirubinemia, Neonatal
MESH:D052202	Hydrocolpos
MESH:D052476	Hypobetalipoproteinemia, Familial, Apolipoprotein B
MESH:D052582	Trigger Finger Disorder
MESH:D052878	Urolithiasis
MESH:D052879	Subacute Combined Degeneration
MESH:D052958	Tarlov Cysts
MESH:D053018	Pyonephrosis
MESH:D053099	Azotemia
MESH:D053201	Urinary Bladder, Overactive
MESH:D053202	Urinary Incontinence, Urge
MESH:D053206	Nocturnal Enuresis
MESH:D053207	Diurnal Enuresis
MESH:D053421	Hand-Arm Vibration Syndrome
MESH:D053448	Prostatism
MESH:D053570	Porcine Postweaning Multisystemic Wasting Syndrome
MESH:D053627	Asthenozoospermia
MESH:D053653	Pyelocystitis
MESH:D053682	Tendon Entrapment
MESH:D053706	Typhlitis
MESH:D053716	Female Athlete Triad Syndrome
MESH:D053717	Pneumonia, Ventilator-Associated
MESH:D054019	Immune Reconstitution Inflammatory Syndrome
MESH:D054038	Posterior Leukoencephalopathy Syndrome
MESH:D054039	Onycholysis
MESH:D054058	Acute Coronary Syndrome
MESH:D054059	Coronary Occlusion
MESH:D054060	Pulmonary Infarction
MESH:D054068	Livedo Reticularis
MESH:D054069	Multiple Acyl Coenzyme A Dehydrogenase Deficiency
MESH:D054070	Postthrombotic Syndrome
MESH:D054083	Ectopia Cordis
MESH:D054098	Thrombocytopenia, Neonatal Alloimmune
MESH:D054138	Sinus Arrest, Cardiac
MESH:D054139	Tachycardia, Reciprocating
MESH:D054222	Cobblestone Lissencephaly
MESH:D054243	Vesicular Stomatitis
MESH:D054364	Solitary Fibrous Tumors
MESH:D054506	Chloracne
MESH:D054515	Vulvar Vestibulitis
MESH:D054549	Takotsubo Cardiomyopathy
MESH:D054908	Extensively Drug-Resistant Tuberculosis
MESH:D054969	Primary Dysautonomias
MESH:D054972	Postural Orthostatic Tachycardia Syndrome
MESH:D054989	Nephrogenic Fibrosing Dermopathy
MESH:D055013	Osteoarthritis, Spine
MESH:D055031	Primary Graft Dysfunction
MESH:D055035	Spinal Osteochondrosis
MESH:D055089	Tracheobronchomalacia
MESH:D055090	Tracheomalacia
MESH:D055111	Failed Back Surgery Syndrome
MESH:D055112	Pyometra
MESH:D055331	Adenomyoepithelioma
MESH:D055397	Ventilator-Induced Lung Injury
MESH:D055535	Morgellons Disease
MESH:D055538	delta-Thalassemia
MESH:D055589	Pancreatitis, Graft
MESH:D055677	Refeeding Syndrome
MESH:D055732	Pulmonary Aspergillosis
MESH:D055744	Invasive Pulmonary Aspergillosis
MESH:D055948	Sarcopenia
MESH:D055954	Corneal Endothelial Cell Loss
MESH:D055956	Diffuse Neurofibrillary Tangles with Calcification
MESH:D055958	Piriformis Muscle Syndrome
MESH:D055963	Asthma, Aspirin-Induced
MESH:D055964	Alien Hand Syndrome
MESH:D055985	Latent Tuberculosis
MESH:D056005	Leprosy, Paucibacillary
MESH:D056006	Leprosy, Multibacillary
MESH:D056104	Commotio Cordis
MESH:D056124	Slit Ventricle Syndrome
MESH:D056150	Acute Generalized Exanthematous Pustulosis
MESH:D056304	Genu Valgum
MESH:D056650	Vulvodynia
MESH:D056653	Rheumatoid Vasculitis
MESH:D056768	Giant Axonal Neuropathy
MESH:D056824	Upper Extremity Deep Vein Thrombosis
MESH:D056830	Isolated Noncompaction of the Ventricular Myocardium
MESH:D056833	Central Serous Chorioretinopathy
MESH:D056844	Renal Colic
MESH:D056886	Contrecoup Injury
MESH:D056986	Euglenozoa Infections
MESH:D057045	Laryngopharyngeal Reflux
MESH:D057088	Anetoderma
MESH:D057091	Poroma
MESH:D057135	Wet Macular Degeneration
MESH:D057174	Frontotemporal Lobar Degeneration
MESH:D057767	Kashin-Beck Disease
MESH:D057774	Post-Exercise Hypotension
MESH:D057792	Mirizzi Syndrome
MESH:D057851	Posterior Capsular Rupture, Ocular
MESH:D057873	Peri-Implantitis
MESH:D057925	Femoracetabular Impingement
MESH:D057971	Anterior Capsular Rupture, Ocular
MESH:D058065	Diabetic Cardiomyopathies
MESH:D058066	Digital Dermatitis
MESH:D058267	Flea Infestations
MESH:D058288	Sister Mary Joseph's Nodule
MESH:D058365	Candidiasis, Invasive
MESH:D058387	Candidemia
MESH:D058442	Capsule Opacification
MESH:D058457	Trichiasis
MESH:D058565	Cerebral Ventriculitis
MESH:D058566	Sacroiliitis
MESH:D058568	Necrolytic Migratory Erythema
MESH:D058625	End Stage Liver Disease
MESH:D058686	Coronary-Subclavian Steal Syndrome
MESH:D058687	Out-of-Hospital Cardiac Arrest
MESH:D058923	Medial Tibial Stress Syndrome
MESH:D058968	Pythiosis
MESH:D059245	Transient Tachypnea of the Newborn
MESH:D059266	Bisphosphonate-Associated Osteonecrosis of the Jaw
MESH:D059269	Chilaiditi Syndrome
MESH:D059325	Intra-Abdominal Hypertension
MESH:D059347	Cardio-Renal Syndrome
MESH:D059366	Asthma, Occupational
MESH:D059369	Pott Puffy Tumor
MESH:D059373	Mastodynia
MESH:D059409	Stroke, Lacunar
MESH:D059466	White Coat Hypertension
MESH:D059468	Masked Hypertension
MESH:D059525	Supraglottitis
MESH:D059608	Laryngocele
MESH:D059885	Kasabach-Merritt Syndrome
MESH:D060050	Angina, Stable
MESH:D060425	Cerebral Phaeohyphomycosis
MESH:D060426	Anti-N-Methyl-D-Aspartate Receptor Encephalitis
MESH:D060437	Artificial Lens Implant Migration
MESH:D060486	Ophthalmoplegic Migraine
MESH:D060487	Alternariosis
MESH:D060605	Hyalohyphomycosis
MESH:D060725	Uterine Retroversion
MESH:D060750	Bone Anteversion
MESH:D060831	Hand-Foot Syndrome
MESH:D061085	Agenesis of Corpus Callosum
MESH:D061220	Oculomotor Nerve Injuries
MESH:D061223	Vagus Nerve Injuries
MESH:D061226	Recurrent Laryngeal Nerve Injuries
MESH:D061247	Trochlear Nerve Injuries
MESH:D061270	Nasal Septal Perforation
MESH:D061285	Vestibulocochlear Nerve Injuries
MESH:D061387	Chlamydial Pneumonia
MESH:D062026	Alice in Wonderland Syndrome
MESH:D062027	Linear IgA Bullous Dermatosis
MESH:D062108	May-Thurner Syndrome
MESH:D062688	Buschke-Lowenstein Tumor
MESH:D062689	Lipoblastoma
MESH:D063192	Pregnancy, Heterotopic
MESH:D063205	Pneumorrhachis
NCBIGene:100359402	SPG41
NCBIGene:1733	DIO1
OMIA:000003	Achalasia of the oesophagus, congenital (in other animals)
OMIA:000008	Acromegaly (in other animals)
OMIA:000011	Acute posterior paresis (in other animals)
OMIA:000012	Adactyly (in other animals)
OMIA:000016	Adrenal cortical atrophy
OMIA:000020	Agenesia of anal sphincter
OMIA:000021	Agenesis of corpus callosum
OMIA:000022	Agnathia (in other animals)
OMIA:000023	Agnathia (type-3 otocephaly) (in other animals)
OMIA:000027	Allergic rhinitis (in other animals)
OMIA:000028	Alloimmune haemolytic anaemia of the newborn (in other animals)
OMIA:000030	Alopecia, generic (in other animals)
OMIA:000031	Alopecia, colour mutant (in other animals)
OMIA:000033	Alzheimer disease (in other animals)
OMIA:000037	Amyloidosis (in other animals)
OMIA:000038	Amyloidosis, AA
OMIA:000039	Amyloidosis, lambda (in other animals)
OMIA:000040	Amyloidosis, renal (in other animals)
OMIA:000041	Diamond-Blackfan anaemia
OMIA:000044	Anencephaly
OMIA:000045	Aniridia with cataract (in other animals)
OMIA:000052	Aortic stenosis, subvalvular
OMIA:000053	Aorticopulmonary septal defect
OMIA:000054	Aphakia
OMIA:000060-9940	Argininaemia in sheep
OMIA:000061	Arnold-Chiari malformation (in other animals)
OMIA:000062	Artery, anomaly of (in other animals)
OMIA:000062-9825	Artery, anomaly of in domestic pig
OMIA:000064	Arthritis (in other animals)
OMIA:000065	Arthritis deformans
OMIA:000066	Arthritis of the carpal joint
OMIA:000067	Arthritis, rheumatoid
OMIA:000068	Arthritis, type-II collagen-immune complex (in other animals)
OMIA:000076-9825	Asymmetric hindquarter syndrome in domestic pig
OMIA:000077	Ataxia, generic (in other animals)
OMIA:000078	Ataxia, cerebellar, neonatal, GRM1-related
OMIA:000079	Ataxia, progressive, with degenerative thoracic myelopathy (in other animals)
OMIA:000080	Atherosclerosis (in other animals)
OMIA:000080-8932	Atherosclerosis in rock pigeon
OMIA:000080-93934	Atherosclerosis in Japanese quail
OMIA:000080-9615	Atherosclerosis in dog
OMIA:000080-9825	Atherosclerosis in domestic pig
OMIA:000083	Atresia ani (in other animals)
OMIA:000083-30538	Atresia ani in alpaca
OMIA:000083-9685	Atresia ani in domestic cat
OMIA:000083-9825	Atresia ani in domestic pig
OMIA:000083-9913	Atresia ani in cattle
OMIA:000083-9925	Atresia ani in goat
OMIA:000083-9940	Atresia ani in sheep
OMIA:000084	Atresia ani vaginalis
OMIA:000089	Atrial septal defect (in other animals)
OMIA:000090	Atrial septal defect and atrial fibrillation (in other animals)
OMIA:000091	Atrophic rhinitis (in other animals)
OMIA:000091-9825	Atrophic rhinitis in domestic pig
OMIA:000091-9913	Atrophic rhinitis in cattle
OMIA:000093	Audiogenic seizure (in other animals)
OMIA:000097	Autoimmune thyroiditis, spontaneous (in other animals)
OMIA:000098	Axonopathy, distal
OMIA:000099	Axonopathy, peripheral (in other animals)
OMIA:000100	Baldness, congenital
OMIA:000105-9796	Osteoporosis in horse
OMIA:000108-9103	Binucleated erythrocyte
OMIA:000109-9940	Birthcoat in sheep
OMIA:000112	Bleeding diathesis
OMIA:000114	Blindness (in other animals)
OMIA:000115	Blindness, congenital (in other animals)
OMIA:000146	Brachydactyly (in other animals)
OMIA:000146-9031	Brachydactyly in chicken
OMIA:000146-9615	Brachydactyly in dog
OMIA:000146-9825	Brachydactyly in domestic pig
OMIA:000147	Brachygnathia
OMIA:000147-9615	Brachygnathia in dog
OMIA:000147-9793	Brachygnathia in ass
OMIA:000147-9796	Brachygnathia in horse
OMIA:000147-9913	Lethal brachygnathia trisomy syndrome
OMIA:000147-9940	Brachygnathia in sheep
OMIA:000149	Brachygnathia superior
OMIA:000149-9825	Brachygnathia superior in domestic pig
OMIA:000149-9913	Brachygnathia superior in cattle
OMIA:000149-9925	Brachygnathia superior in goat
OMIA:000149-9940	Brachygnathia superior in sheep
OMIA:000149-9986	maxillary brachygnathism, congenital malocclusion, mandibula
OMIA:000150	Brachygnathia superior and degenerative joint disease
OMIA:000155-9615	C3 deficiency in dog
OMIA:000155-9986	C3 deficiency in rabbit
OMIA:000156-9986	C8 deficiency in rabbit
OMIA:000159	Cardiac anomaly
OMIA:000160	Cardiomyopathy (in other animals)
OMIA:000161	Cardiomyopathy and woolly haircoat syndrome
OMIA:000162	Cardiomyopathy, dilated (in other animals)
OMIA:000162-10036	Cardiomyopathy, dilated in golden hamster
OMIA:000162-34882	Cardiomyopathy, dilated in sea otter
OMIA:000162-9103	Cardiomyopathy, dilated in turkey
OMIA:000162-9615	Dilated cardiomyopathy
OMIA:000162-9685	Cardiomyopathy, dilated in domestic cat
OMIA:000162-9825	Cardiomyopathy, dilated in domestic pig
OMIA:000162-9913	Bovine hereditary cardiomyopathy; Bovine dilated cardiomyopa
OMIA:000162-9986	Cardiomyopathy, dilated in rabbit
OMIA:000164	Cardiomyopathy, spontaneous (in other animals)
OMIA:000165	Cardiovascular malformations (in other animals)
OMIA:000168	Cataract, generic (in other animals)
OMIA:000174	Cerebellar Purkinje cell degeneration (in other animals)
OMIA:000176	Cerebellar anomaly, congenital (in other animals)
OMIA:000179	Cerebellar hypoplasia (in other animals)
OMIA:000180	Cerebellar malformation (in other animals)
OMIA:000181-60468	Neuronal Ceroid Lipofuscinosis, generic in peach-faced lovebird
OMIA:000181-8839	Neuronal Ceroid Lipofuscinosis, generic in mallard
OMIA:000181-9541	Neuronal Ceroid Lipofuscinosis, generic in crab-eating macaque
OMIA:000181-9615	Neuronal ceroid lipofuscinosis
OMIA:000181-9669	Neuronal Ceroid Lipofuscinosis, generic in domestic ferret
OMIA:000181-9685	neuronal ceroid lipofuscinosis
OMIA:000181-9796	Neuronal ceroid lipofuscinosis
OMIA:000181-9825	Neuronal Ceroid Lipofuscinosis, generic in domestic pig
OMIA:000181-9913	Neuronal ceroid lipofuscinosis
OMIA:000181-9925	neuronal ceroid lipofuscinosis
OMIA:000181-9940	Neuronal ceroid lipofuscinosis
OMIA:000185-452646	Chediak-Higashi syndrome in American mink
OMIA:000185-494514	Chediak-Higashi syndrome in Arctic fox
OMIA:000185-9685	Chediak-Higashi syndrome in domestic cat
OMIA:000185-9733	Chediak-Higashi syndrome in killer whale
OMIA:000185-9913	Chediak-Higashi syndrome in cattle
OMIA:000187	Chondrodysplasia
OMIA:000189	Chondrodystrophy (in other animals)
OMIA:000192	Chronic interstitial nephropathy (in other animals)
OMIA:000194-9913	Citrullinaemia in cattle
OMIA:000197	Cleft palate
OMIA:000201-30538	Coat colour, agouti in alpaca
OMIA:000201-9627	Coat colour, agouti in red fox
OMIA:000202-452646	Coat colour, albinism in American mink
OMIA:000202-8090	Coat colour, albinism in Japanese medaka
OMIA:000213-74535	Coat colour, white in Bengal tiger
OMIA:000214-9615	Coat colour, white spotting in dog
OMIA:000214-9685	Coat colour, white spotting in domestic cat
OMIA:000214-9796	Splashed white
OMIA:000214-9913	Coat colour, white spotting in cattle
OMIA:000218-9615	Collie eye anomaly in dog
OMIA:000221	Congenital anaemia, dyskeratosis and progressive alopecia (in other animals)
OMIA:000224	Conotruncal heart malformations (in other animals)
OMIA:000230	Corneal dystrophy (in other animals)
OMIA:000231	Corneal opacity (in other animals)
OMIA:000237	Cranioschisis
OMIA:000242	Crippled (in other animals)
OMIA:000243	Cryptorchidism (in other animals)
OMIA:000243-9615	Cryptorchidism in dog
OMIA:000243-9685	Cryptorchidism in domestic cat
OMIA:000247	Cushing disease (in other animals)
OMIA:000248-9615	Grey Collie Syndrome; Gray Collie Syndrome
OMIA:000249	Cyclopia (in other animals)
OMIA:000249-452646	Cyclopia in American mink
OMIA:000249-9031	Cyclopia in chicken
OMIA:000249-9615	Cyclopia in dog
OMIA:000249-9685	Cyclopia in domestic cat
OMIA:000249-9796	Cyclopia in horse
OMIA:000249-9825	Cyclopia in domestic pig
OMIA:000249-9913	Cyclopia in cattle
OMIA:000249-9940	Cyclopia in sheep
OMIA:000250	Cystic bile ducts and renal tubules (in other animals)
OMIA:000252	Cystic liver
OMIA:000254	Cystic ovary (in other animals)
OMIA:000255	Cystic renal dysplasia (in other animals)
OMIA:000256-9615	Cystinuria, type I - A in dog
OMIA:000258	Dandy-Walker syndrome
OMIA:000259	Deafness (in other animals)
OMIA:000263-9615	Canine degenerative myelopathy
OMIA:000264	Degenerative myopathy of deep pectoral muscle
OMIA:000265	Degenerative myopathy of obturator-externus (in other animals)
OMIA:000267	Delta 9-tetrahydrocannabinol seizure (in other animals)
OMIA:000269	Dermatitis, atopic (in other animals)
OMIA:000271-9825	Club foot
OMIA:000275	Retinal detachment
OMIA:000286	Diaphragmatic defects (in other animals)
OMIA:000292-9940	Doggy wool in sheep
OMIA:000299	Dwarfism
OMIA:000299-9615	Dwarfism in dog
OMIA:000299-9796	Dwarfism in horse
OMIA:000299-9825	Dwarfism in domestic pig
OMIA:000299-9913	Dwarfism in cattle
OMIA:000299-9940	Dwarfism in sheep
OMIA:000299-9986	Dwarfism in rabbit
OMIA:000300	Dwarfism with anaemia
OMIA:000301	Ocular-skeletal dysplasia
OMIA:000302	Dwarfism, Ancon
OMIA:000302-9940	Otter
OMIA:000303	Dwarfism, autosomal (in other animals)
OMIA:000303-9031	Dwarfism, autosomal in chicken
OMIA:000305	Dwarfism, chondroplastic
OMIA:000306	Dwarfism, crooked neck
OMIA:000307	Dwarfism, pituitary (in other animals)
OMIA:000308	Dwarfism, proportionate (in other animals)
OMIA:000309	Dwarfism, sex-linked
OMIA:000309-9031	Dwarfism, sex-linked in chicken
OMIA:000310	Dwarfism, snorter (in other animals)
OMIA:000311	Dwarfism, stumpy
OMIA:000313	Congenital dyserythropoietic anaemia with dyskeratosis and progressive alopecia (in other animals)
OMIA:000314	Ear defect
OMIA:000315	Ear length
OMIA:000316	Ear tuftedness (in other animals)
OMIA:000317	Ears, crop
OMIA:000317-9913	Notched ears; Nicked ears
OMIA:000318	Ears, double (in other animals)
OMIA:000319	Ears, folded
OMIA:000320	Ears, four
OMIA:000320-9685	Ears, four in domestic cat
OMIA:000321	Ears, notched
OMIA:000322	Ears, short
OMIA:000323	Ectodermal dysplasia (in other animals)
OMIA:000323-9031	Ectodermal dysplasia in chicken
OMIA:000323-9615	Canine ectodermal dysplasia
OMIA:000325	Ectropion (in other animals)
OMIA:000327	Ehlers-Danlos syndrome
OMIA:000328	Ehlers-Danlos syndrome, type VII (Dermatosparaxis) (in other animals)
OMIA:000328-9685	Ehlers-Danlos syndrome, type VII (Dermatosparaxis) in domestic cat
OMIA:000328-9913	Ehlers-Danlos syndrome, type VII (Dermatosparaxis) in cattle
OMIA:000328-9940	Ehlers-Danlos syndrome, type VII (Dermatosparaxis) in sheep
OMIA:000337	Entropion (in other animals)
OMIA:000339	Epidermolysis
OMIA:000340	Epidermolysis bullosa
OMIA:000341	Epidermolysis bullosa, dystrophic (in other animals)
OMIA:000341-9615	Recessive dystrophic epidermolysis bullosa (RDEB)
OMIA:000341-9685	Epidermolysis bullosa, dystrophic in domestic cat
OMIA:000341-9913	Epidermolysis bullosa, dystrophic in cattle
OMIA:000341-9925	Epidermolysis bullosa, dystrophic in goat
OMIA:000341-9940	Epidermolysis bullosa, dystrophic in sheep
OMIA:000342	Epidermolysis bullosa, junctionalis
OMIA:000344	Epilepsy (in other animals)
OMIA:000348-89462	Epitheliogenesis imperfecta in water buffalo
OMIA:000348-9685	Epitheliogenesis imperfecta in domestic cat
OMIA:000348-9796	Epitheliogenesis imperfecta in horse
OMIA:000348-9825	Aplasia cutis congenita
OMIA:000348-9913	Epitheliogenesis imperfecta in cattle
OMIA:000348-9940	Epitheliogenesis imperfecta in sheep
OMIA:000351	Excessive appetite for water (in other animals)
OMIA:000352	Exencephaly
OMIA:000353	Exophthalmos with strabismus
OMIA:000355	Extra ear lobes
OMIA:000358	Eye defects
OMIA:000359	Eyelid gland, third, prolapse of
OMIA:000364-9615	Factor XII deficiency in dog
OMIA:000364-9685	Factor XII deficiency in domestic cat
OMIA:000364-9733	Factor XII deficiency in killer whale
OMIA:000364-9739	Factor XII deficiency in bottlenosed dolphin
OMIA:000366	Fanconi syndrome (in other animals)
OMIA:000373-9031	Feather colour, dominant white in chicken
OMIA:000374-70340	Feather colour, extended black in Lesser snow goose
OMIA:000374-87177	Feather colour, extended black in Bananaquit
OMIA:000374-8996	Feather colour, extended black in helmeted guineafowl
OMIA:000380-8996	Feathering, Z-linked in helmeted guineafowl
OMIA:000380-9031	Feathering, Z-linked in chicken
OMIA:000380-9103	Feathering, Z-linked in turkey
OMIA:000383-9940	Fecundity, Booroola, FecB(B) in sheep
OMIA:000384-9940	Fecundity, Galway, FecX(G) in sheep
OMIA:000385-9940	Fecundity, Thoka, FecG(T) in sheep
OMIA:000386-9940	Fecundity, Inverdale, FecX(I) in sheep
OMIA:000387-9940	Fecundity, Java in sheep
OMIA:000391	Fragile X (in other animals)
OMIA:000392-34880	Fragile site in raccoon dog
OMIA:000392-9615	Fragile site in dog
OMIA:000392-9685	Fragile site in domestic cat
OMIA:000392-9796	Fragile site in horse
OMIA:000392-9825	Fragile site in domestic pig
OMIA:000392-9940	Fragile site in sheep
OMIA:000396-9615	Fucosidosis, alpha in dog
OMIA:000402-8790	Gangliosidosis, GM1 in emu
OMIA:000402-9615	Gangliosidosis, GM1 in dog
OMIA:000402-9685	Gangliosidosis, GM1 in domestic cat
OMIA:000402-9913	Gangliosidosis, GM1 in cattle
OMIA:000402-9940	Gangliosidosis, GM1 in sheep
OMIA:000405	Gaucher disease, type I
OMIA:000411	Glaucoma, generic
OMIA:000413	Glomerulonephritis
OMIA:000414	Glomerulonephropathy
OMIA:000415	Glossopharyngeal defect
OMIA:000418	Glycogen storage disease Ia
OMIA:000418-9615	Glycogen storage disease Ia in dog
OMIA:000419	Glycogen storage disease II (in other animals)
OMIA:000420	Glycogen storage disease IV (in other animals)
OMIA:000421	Glycogen storage disease VII (in other animals)
OMIA:000421-9615	Glycogen storage disease VII in dog
OMIA:000424	Goitre, familial
OMIA:000424-10036	Goitre, familial in golden hamster
OMIA:000424-69297	Goitre, familial in bongo
OMIA:000424-89462	Goitre, familial in water buffalo
OMIA:000424-9031	Goitre, familial in chicken
OMIA:000424-9615	Goitre, familial in dog
OMIA:000424-9643	Goitre, familial in American black bear
OMIA:000424-9685	Goitre, familial in domestic cat
OMIA:000424-9825	Goitre, familial in domestic pig
OMIA:000424-9913	Goitre, familial in cattle
OMIA:000424-9925	Goitre, familial in goat
OMIA:000424-9940	Goitre, familial in sheep
OMIA:000425-9940	Golden ram effect in sheep
OMIA:000426	Gonadal hypoplasia
OMIA:000426-9913	Gonadal hypoplasia in cattle
OMIA:000428	Haemochromatosis (in other animals)
OMIA:000429	Haemoglobin, abnormal
OMIA:000430	Haemolytic anaemia
OMIA:000432	Haemolytic anaemia, autoimmune (in other animals)
OMIA:000433	Haemolytic anaemia, nonspherocytic
OMIA:000434	Haemolytic anaemia, primary autoimmune (in other animals)
OMIA:000437	Haemophilia A
OMIA:000437-9615	Haemophilia A in dog
OMIA:000437-9825	Haemophilia A in domestic pig
OMIA:000438	Haemophilia B
OMIA:000443-9940	Carpet wool
OMIA:000444	Harelip (in other animals)
OMIA:000452-9031	Henny feathering in chicken
OMIA:000468-10036	Heterochromia irides/iridis in golden hamster
OMIA:000468-9615	Heterochromia irides in dog
OMIA:000468-9825	Glass eye
OMIA:000468-9913	Heterochromia irides/iridis in cattle
OMIA:000468-9940	Heterochromia irides in sheep
OMIA:000483-9913	Haplotype BHP; Haplotype HHP; Haplotype JHP
OMIA:000483-9925	Polled/Intersex syndrome (PIS)
OMIA:000483-9940	Polled/Horns in sheep
OMIA:000496-27679	Hyperbilirubinaemia I in Bolivian squirrel monkey
OMIA:000496-9796	Hyperbilirubinaemia I in horse
OMIA:000496-9940	Hyperbilirubinaemia I in sheep
OMIA:000497-9940	Hyperbilirubinaemia II in sheep
OMIA:000507-9825	Inherited thick forelegs
OMIA:000515	Cardiomyopathy, hypertrophic (in other animals)
OMIA:000515-9685	Feline familial HCM
OMIA:000515-9825	Cardiomyopathy, hypertrophic in domestic pig
OMIA:000536-9031	Hypothyroidism in chicken
OMIA:000536-9615	Congenital hypothyroidism with goiter
OMIA:000536-9685	Hypothyroidism in domestic cat
OMIA:000536-9796	Hypothyroidism in horse
OMIA:000536-9925	Hypothyroidism in goat
OMIA:000536-9940	Hypothyroidism in sheep
OMIA:000543-9615	Ectodermal dysplasia, X-linked, X-linked hypohidrotic ectode
OMIA:000545-93934	Quiver quail; hax
OMIA:000552-9612	Immunoglobulin A deficiency in gray wolf
OMIA:000565-9615	Intestinal cobalamin malabsorption due to AMN mutation in dog
OMIA:000573-9615	Kartagener syndrome in dog
OMIA:000573-9685	Kartagener syndrome in domestic cat
OMIA:000573-9825	Kartagener syndrome in domestic pig
OMIA:000576-9615	Knobbed acrosome in dog
OMIA:000576-9796	Knobbed acrosome in horse
OMIA:000576-9825	Knobbed acrosome in domestic pig
OMIA:000576-9913	Knobbed acrosome in cattle
OMIA:000576-9940	Knobbed acrosome in sheep
OMIA:000578-9544	Krabbe disease in Rhesus monkey
OMIA:000578-9615	globoid cell leukodystrophy
OMIA:000578-9685	Krabbe disease in domestic cat
OMIA:000578-9940	Krabbe disease in sheep
OMIA:000591-9940	Coat colour, lethal grey/gray in sheep
OMIA:000595-89462	Leukocyte adhesion deficiency, type I in water buffalo
OMIA:000595-9615	Canine leukocyte adhesion deficiency
OMIA:000610-9940	Lustrous wool in sheep
OMIA:000621-9615	Malignant hyperthermia in dog
OMIA:000621-9825	Porcine Stress Syndrome
OMIA:000625-9685	Mannosidosis, alpha in domestic cat
OMIA:000625-9913	Mannosidosis, alpha in cattle
OMIA:000626-59523	Mannosidosis, beta in springbok
OMIA:000626-9913	Mannosidosis, beta in cattle
OMIA:000626-9925	Mannosidosis, beta in goat
OMIA:000627-9913	Maple syrup urine disease in cattle
OMIA:000628-9913	Marfan Syndrome
OMIA:000629-9685	Megacolon in domestic cat
OMIA:000629-9796	Overo lethal white foal syndrome; frame overo spotting
OMIA:000629-9825	Megacolon in domestic pig
OMIA:000629-9913	Megacolon in cattle
OMIA:000629-9986	Megacolon in rabbit
OMIA:000636-9825	Porcine dense deposit disease; Hereditary factor H deficienc
OMIA:000642-9940	Mesangiocapillary glomerulonephritis, type I in sheep
OMIA:000648-8835	Micromelia in ducks
OMIA:000648-9031	Micromelia in chicken
OMIA:000648-93934	Micromelia in Japanese quail
OMIA:000662-9615	Motor neuron disease, lower in dog
OMIA:000662-9796	Motor neuron disease, lower in horse
OMIA:000662-9825	Motor neuron disease, lower in domestic pig
OMIA:000662-9940	Motor neuron disease, lower in sheep
OMIA:000664-9615	Mucopolysaccharidosis I
OMIA:000664-9685	Mucopolysaccharidosis I in domestic cat
OMIA:000665-9925	Mucopolysaccharidosis IIID in goat
OMIA:000666-9615	Mucopolysaccharidosis VI in dog
OMIA:000666-9685	Mucopolysaccharidosis VI in domestic cat
OMIA:000667-9615	Mucopolysaccharidosis VII in dog
OMIA:000667-9685	Mucopolysaccharidosis VII in domestic cat
OMIA:000668-9031	Muffs and beard in chicken
OMIA:000679-452646	Muscular dystrophy in American mink
OMIA:000679-9031	Abnormal muscle; AM
OMIA:000679-9103	Muscular dystrophy in turkey
OMIA:000679-9615	Muscular dystrophy in dog
OMIA:000679-9685	Muscular dystrophy in domestic cat
OMIA:000679-9940	Muscular dystrophy in sheep
OMIA:000683-9615	Muscular hypertrophy (double muscling) in dog
OMIA:000683-9825	Muscular hypertrophy (double muscling) in domestic pig
OMIA:000683-9913	Double muscling
OMIA:000685-9615	Congenital myasthenic syndrome
OMIA:000685-9913	Myasthenic syndrome, congenital in cattle
OMIA:000698-89462	Myotonia in water buffalo
OMIA:000698-9615	Myotonia in dog
OMIA:000698-9685	Myotonia in domestic cat
OMIA:000698-9796	Myotonia in horse
OMIA:000698-9925	Myotonia in goat
OMIA:000698-9940	Myotonia in sheep
OMIA:000703-9615	Narcolepsy in dog
OMIA:000703-9685	Narcolepsy in domestic cat
OMIA:000703-9796	Narcolepsy in horse
OMIA:000703-9940	Narcolepsy in sheep
OMIA:000708	Nephritis
OMIA:000710	Nephropathy
OMIA:000715-9615	Fetal-onset neuroaxonal dystrophy
OMIA:000715-9685	Neuroaxonal dystrophy in domestic cat
OMIA:000715-9796	Neuroaxonal dystrophy in horse
OMIA:000715-9940	Neuroaxonal dystrophy in sheep
OMIA:000715-9986	Neuroaxonal dystrophy in rabbit
OMIA:000716-32443	Neurofibromatosis in teleost fishes
OMIA:000716-9913	Neurofibromatosis in cattle
OMIA:000723-9940	Neuropathy, thalamic-cerebellar in sheep
OMIA:000747	Osteoarthritis
OMIA:000770-9615	Shaking pup
OMIA:000770-9825	Congenital tremor syndrome
OMIA:000770-9986	Tremor, X-linked in rabbit
OMIA:000785-9796	Hyperkalemic Periodic Paralysis (HYPP)
OMIA:000791-9615	Persistent Mullerian Duct Syndrome
OMIA:000791-9685	Persistent Mullerian duct syndrome in domestic cat
OMIA:000791-9925	Persistent Mullerian duct syndrome in goat
OMIA:000806-9940	Polyceraty in sheep
OMIA:000807-10160	Polycystic kidney disease in degu
OMIA:000807-59523	Polycystic kidney disease in springbok
OMIA:000807-9615	Polycystic kidney disease in dog
OMIA:000807-9685	Polycystic kidney disease in domestic cat
OMIA:000807-9796	Polycystic kidney disease in horse
OMIA:000807-9858	Polycystic kidney disease in Western roe deer
OMIA:000807-9940	Polycystic kidney disease in sheep
OMIA:000807-9986	Polycystic kidney disease in rabbit
OMIA:000818-9940	Potassium transport in sheep
OMIA:000844-9615	Pyruvate kinase deficiency of erythrocyte in dog
OMIA:000844-9685	Pyruvate kinase deficiency of erythrocyte in domestic cat
OMIA:000853-9940	Reduced glutathione deficiency due to GCS deficiency in sheep
OMIA:000864-9940	Response to noradrenaline in sheep
OMIA:000878-9615	Arrhythmogenic right ventricular cardiomyopathy
OMIA:000878-9685	Arrhythmogenic right ventricular cardiomyopathy in domestic cat
OMIA:000899-9615	Severe combined immunodeficiency disease, X-linked in dog
OMIA:000899-9825	Severe combined immunodeficiency disease, X-linked in domestic pig
OMIA:000901-8090	XX testicular DSD (Disorder of Sexual Development) in Japanese medaka
OMIA:000901-9615	XX sex reversal, XX DSD testicular/ovotesticular
OMIA:000901-9796	XX testicular DSD (Disorder of Sexual Development) in horse
OMIA:000901-9825	XX testicular DSD (Disorder of Sexual Development) in domestic pig
OMIA:000901-9844	XX testicular DSD (Disorder of Sexual Development) in llama
OMIA:000901-9925	Polled/Intersex syndrome
OMIA:000914-9940	Silky wool in sheep
OMIA:000939-9615	Spinal muscular atrophy in dog
OMIA:000939-9685	Spinal muscular atrophy in domestic cat
OMIA:000939-9913	Haplotype BHM
OMIA:000941-9940	Split eyelid in sheep
OMIA:000944-10036	Spongiform encephalopathy in golden hamster
OMIA:000944-32536	Spongiform encephalopathy in cheetah
OMIA:000944-37185	Spongiform encephalopathy in blue antelope
OMIA:000944-39411	Spongiform encephalopathy in Arabian oryx
OMIA:000944-452646	Scrapie
OMIA:000944-89462	Spongiform encephalopathy in water buffalo
OMIA:000944-9031	Spongiform encephalopathy in chicken
OMIA:000944-9483	Spongiform encephalopathy in white-tufted-ear marmoset
OMIA:000944-9539	Spongiform encephalopathy in macaques
OMIA:000944-9541	Spongiform encephalopathy in crab-eating macaque
OMIA:000944-9544	Spongiform encephalopathy in Rhesus monkey
OMIA:000944-9615	Spongiform encephalopathy in dog
OMIA:000944-9669	Spongiform encephalopathy in domestic ferret
OMIA:000944-9685	Spongiform encephalopathy in domestic cat
OMIA:000944-9696	Spongiform encephalopathy in puma
OMIA:000944-9825	Spongiform encephalopathy in domestic pig
OMIA:000944-9850	Spongiform encephalopathy in deer
OMIA:000944-9861	Spongiform encephalopathy in Eastern wapiti
OMIA:000944-9865	Spongiform encephalopathy in Manchurian Wapiti
OMIA:000944-9873	Spongiform encephalopathy in black-tailed deer
OMIA:000944-9913	Bovine spongiform encephalopathy; Mad Cow Disease
OMIA:000944-9925	Scrapie
OMIA:000944-9940	Scrapie
OMIA:000944-9945	Spongiform encephalopathy in eland
OMIA:000944-9946	Spongiform encephalopathy in greater kudu
OMIA:000944-9986	Spongiform encephalopathy in rabbit
OMIA:000961-9940	Swayback in sheep
OMIA:000963-9031	Syndactyly (mule foot) in chicken
OMIA:000963-9315	Syndactyly (mule foot) in tammar wallaby
OMIA:000963-9615	Syndactyly (mule foot) in dog
OMIA:000963-9685	Syndactyly (mule foot) in domestic cat
OMIA:000963-9825	Syndactyly (mule foot) in domestic pig
OMIA:000963-9913	Mule foot disease; Haplotype HHM
OMIA:000963-9940	Syndactyly (mule foot) in sheep
OMIA:000975-9615	bob-tail, bob tail
OMIA:000975-9940	Tail, short in sheep
OMIA:000977-9685	Manx tailllessness
OMIA:000977-9825	Taillessness in domestic pig
OMIA:000977-9913	Taillessness in cattle
OMIA:000991-9615	Androgen insensitivity syndrome (AIS) in dog
OMIA:000991-9685	Androgen insensitivity syndrome (AIS) in domestic cat
OMIA:000991-9796	Androgen insensitivity syndrome (AIS) in horse
OMIA:000991-9825	Androgen insensitivity syndrome (AIS) in domestic pig
OMIA:000991-9913	Androgen insensitivity syndrome (AIS) in cattle
OMIA:000994-9615	Tetralogy of fallot in dog
OMIA:000994-9685	Tetralogy of fallot in domestic cat
OMIA:000994-9796	Tetralogy of fallot in horse
OMIA:000994-9913	Tetralogy of fallot in cattle
OMIA:000998-9940	Thread defect in sheep
OMIA:001033-10152	Urolithiasis in short-tailed chinchilla
OMIA:001033-9322	Urolithiasis in kangaroo
OMIA:001033-9615	Hyperuricosuria and hyperuricemia
OMIA:001033-9669	Urolithiasis in domestic ferret
OMIA:001033-9685	Urolithiasis in domestic cat
OMIA:001033-9796	Urolithiasis in horse
OMIA:001033-9825	Urolithiasis in domestic pig
OMIA:001033-9844	Urolithiasis in llama
OMIA:001033-9913	Urolithiasis in cattle
OMIA:001033-9925	Urolithiasis in goat
OMIA:001033-9940	Urolithiasis in sheep
OMIA:001079-9796	Yellow fat in horse
OMIA:001079-9825	Yellow fat in domestic pig
OMIA:001079-9913	Yellow fat in cattle
OMIA:001079-9940	Yellow fat in sheep
OMIA:001079-9986	Yellow fat in rabbit
OMIA:001081-9615	X-linked muscular dystrophy; Dystrophin-deficient muscular d
OMIA:001081-9685	Muscular dystrophy, Duchenne type in domestic cat
OMIA:001085-9825	"""Hampshire effect"""
OMIA:001087	Anaemia (in other animals)
OMIA:001088-9825	K88 scours
OMIA:001091	Ataxia, progressive (in other animals)
OMIA:001091-9615	Ataxia, progressive in dog
OMIA:001091-9825	congenital progressive ataxia and spastic paresis
OMIA:001091-9913	Ataxia, progressive in cattle
OMIA:001093-9615	Hepatitis, chronic active in dog
OMIA:001094-9615	Hepatitis, neonatal in dog
OMIA:001097-9913	Necrotising encephalopathy, subacute, of Leigh in cattle
OMIA:001098-9615	Polymicrogyria and asymmetrical ventricular dilation in dog
OMIA:001102-9685	Situs inversus in domestic cat
OMIA:001106	Axonopathy
OMIA:001112	Nephritis, X-linked (in other animals)
OMIA:001112-9615	Alport syndrome
OMIA:001114	Nephritis, autosomal dominant
OMIA:001119-89462	Abomasum, displaced in water buffalo
OMIA:001119-9913	Abomasum, displaced in cattle
OMIA:001119-9940	Abomasum, displaced in sheep
OMIA:001122	Connected toes
OMIA:001132-9615	Spondylosis deformans in dog
OMIA:001132-9685	Spondylosis deformans in domestic cat
OMIA:001135	Renal dysplasia
OMIA:001139	Glycogen storage disease V (in other animals)
OMIA:001139-9913	Myophosphorylase deficiency
OMIA:001139-9940	Glycogen storage disease V in sheep
OMIA:001140	Cleft lip with or without cleft palate
OMIA:001142-9615	Wilms tumour in dog
OMIA:001142-9825	Wilms tumour in domestic pig
OMIA:001142-9913	Wilms tumour in cattle
OMIA:001142-9940	Wilms tumour in sheep
OMIA:001157	Anisocoria
OMIA:001158-9615	Polysaccharide storage myopathy/Exertional rhabdomyolysis in dog
OMIA:001158-9796	Equine rhabdomyolysis syndrome; Polysaccharide storage myopa
OMIA:001158-9825	Polysaccharide storage myopathy/Exertional rhabdomyolysis in domestic pig
OMIA:001168	Coronal suture synostosis (in other animals)
OMIA:001169	Ascites (in other animals)
OMIA:001175-9685	Porphyria, congenital erythropoietic in domestic cat
OMIA:001175-9913	Pink tooth
OMIA:001181	Atrial fibrillation
OMIA:001186	Erythrocytosis
OMIA:001199-10141	Coat colour, extension in domestic guinea pig
OMIA:001199-30521	Coat colour, extension in domestic yak
OMIA:001199-30538	Coat colour, extension in alpaca
OMIA:001199-30640	Coat colour, extension in gray squirrel
OMIA:001199-37349	Coat colour, extension in woolly mammoth
OMIA:001199-38666	Coat colour, extension in rock pocket mouse
OMIA:001199-42413	Coat colour, extension in oldfield mouse
OMIA:001199-43597	Coat colour, extension in lesser earless lizard
OMIA:001199-494514	Coat colour, extension in Arctic fox
OMIA:001199-61402	Also known as Puma yagouaroundi
OMIA:001199-68352	Coat colour, extension in little striped whiptail
OMIA:001199-89462	Coat colour, extension in water buffalo
OMIA:001199-9614	Coat colour, extension in coyote
OMIA:001199-9615	Coat colour, extension in dog
OMIA:001199-9627	Coat colour, extension in red fox
OMIA:001199-9643	Coat colour, extension in American black bear
OMIA:001199-9685	Coat colour, extension in domestic cat
OMIA:001199-9690	Coat colour, extension in jaguar
OMIA:001199-9796	Chestnut
OMIA:001199-9825	Coat colour, extension in domestic pig
OMIA:001199-9913	Black/red coat colour; Haplotype HBR; Haplotype HHR
OMIA:001199-9925	Coat colour, extension in goat
OMIA:001199-9940	Dominant black
OMIA:001199-9986	Coat colour, extension in rabbit
OMIA:001200-9539	Tremor, high-frequency in macaques
OMIA:001200-9825	Campus syndrome
OMIA:001226-9031	Polymelia in chicken
OMIA:001226-9615	Polymelia in dog
OMIA:001226-9913	Developmental Duplications
OMIA:001226-9940	Polymelia in sheep
OMIA:001228-9615	Spherocytosis in dog
OMIA:001233	Cyanosis (in other animals)
OMIA:001239-9913	Epiphora in cattle
OMIA:001240-9615	Hyperphosphatasaemia in dog
OMIA:001245-9031	GUCY1*
OMIA:001246	Chronic valvular disease
OMIA:001248-7955	Mucolipidosis II in zebrafish
OMIA:001248-9685	Mucolipidosis II in domestic cat
OMIA:001270	Convulsions and ataxia, familial (in other animals)
OMIA:001271	Dwarfism, ACAN-related
OMIA:001272-9615	Schnauzer comedo syndrome
OMIA:001273-9940	Resistance to Fasciola gigantica in sheep
OMIA:001274-452646	Coat colour, black crystal in American mink
OMIA:001292-9615	Polyneuropathy in dog
OMIA:001294	Dwarfism, growth-hormone-receptor deficiency
OMIA:001294-9913	GHRD
OMIA:001296	Dwarfism, hypochondroplastic
OMIA:001299-9031	Resistance to avian sarcoma and leukosis viruses, subgroup A in chicken
OMIA:001302-9031	tvb locus
OMIA:001321	Nephritis, X-linked dominant
OMIA:001323	Dwarfism, Laron (in other animals)
OMIA:001331	Eclampsia (in other animals)
OMIA:001334-9825	Immotile short-tail sperm defect; Sterilizing short-tail spe
OMIA:001334-9913	Also known as stump sperm defect; one form of multiple morph
OMIA:001340	Complex vertebral malformation
OMIA:001340-9913	Haplotype HHC
OMIA:001344-9615	Coat colour, cream dilution in dog
OMIA:001344-9796	Palomino
OMIA:001354-9940	Callipyge
OMIA:001355-9940	Carwell; rib-eye muscling (REM)
OMIA:001356-9796	Gray; Grey; Greying with age
OMIA:001359	Nephritis, autosomal recessive
OMIA:001363	Ataxia, progressive, with head tremor and seizures (in other animals)
OMIA:001367	Blindness enlarged globe
OMIA:001371-9615	L-2-hydroxyglutaric aciduria
OMIA:001397	Eyelid gland, third, prolpase of
OMIA:001402-9615	Invermectin sensitivity
OMIA:001404-9913	Leptin concentration in cattle
OMIA:001405-9615	Protein deletion
OMIA:001406-7955	Pyruvate dehydrogenase deficiency in zebrafish
OMIA:001406-9615	Pyruvate dehydrogenase deficiency in dog
OMIA:001407-9913	Black kidney
OMIA:001415-9615	Hyperkeratosis, epidermolytic in dog
OMIA:001417-9615	Pulmonary fibrosis, idiopathic in dog
OMIA:001417-9685	Pulmonary fibrosis, idiopathic in domestic cat
OMIA:001418-9615	CD
OMIA:001436-9825	Non-shivering thermiogenesis, absence of in domestic pig
OMIA:001442-9913	Forelimb-girdle muscular anomaly in cattle
OMIA:001443-9615	Neuronal ceroid lipofuscinosis, 6 in dog
OMIA:001443-9940	Battens disease
OMIA:001444-9615	Canine multifocal retinopathy
OMIA:001450-9913	Congenital muscular dystonia 1 in cattle
OMIA:001451-9913	Congenital muscular dystonia 2 in cattle
OMIA:001452-9913	Crooked tail syndrome
OMIA:001461-9217	Gangliosidosis, GM2, type I (B variant) in American flamingo
OMIA:001461-9615	Gangliosidosis, GM2, type I
OMIA:001461-9888	Gangliosidosis, GM2, type I (B variant) in muntjak
OMIA:001461-9940	Gangliosidosis, GM2, type I (B variant) in sheep
OMIA:001461-9986	Gangliosidosis, GM2, type I (B variant) in rabbit
OMIA:001465-9825	Arthrogryposis multiplex congenita in domestic pig
OMIA:001465-9913	Bovine Hereditary Arthrogyposis Multiplex Congentia
OMIA:001466-9615	Exercise-induced collapse in dog
OMIA:001471-9615	Neonatal encephalopathy with seizures in dog
OMIA:001472-9615	Neuronal ceroid lipofuscinosis, 2 in dog
OMIA:001482-9615	Neuronal ceroid lipofuscinosis, 5 in dog
OMIA:001482-9913	Neuronal ceroid lipofuscinosis, 5 in cattle
OMIA:001482-9940	Neuronal ceroid lipofuscinosis, 5 in sheep
OMIA:001484-9685	Coat colour, ticked in domestic cat
OMIA:001488-9913	Encephalomyelopathy, multifocal symmetrical necrotizing, Angus in cattle
OMIA:001497-452646	Marbled
OMIA:001503-9615	Neuronal ceroid lipofuscinosis, 4A in dog
OMIA:001504-9615	Neuronal ceroid lipofuscinosis, 1 in dog
OMIA:001505-9615	Neuronal ceroid lipofuscinosis, 10 in dog
OMIA:001522-9615	Oculoskeletal dysplasia 1 in dog
OMIA:001523-9615	Oculoskeletal dysplasia 2 in dog
OMIA:001552-9615	Neuronal ceroid lipofuscinosis, 12 in dog
OMIA:001553-9615	cmr2
OMIA:001554-9615	cmr3
OMIA:001577-9615	Glycogen storage disease IIIa in dog
OMIA:001609-9615	Exfoliative cutaneous lupus erythematosus in dog
OMIA:001614-9685	Vitamin D-deficiency rickets, non-type I, non-type II in domestic cat
OMIA:001622-9031	Resistance to avian sarcoma and leukosis viruses, subgroup C in chicken
OMIA:001673-9825	Spermatogenic arrest in domestic pig
OMIA:001677	Epidermolysis bullosa, junctionalis, LAMA3-related
OMIA:001678	Epidermolysis bullosa, junctionalis, LAMC2-related
OMIA:001680-9913	German White Fleckvieh syndrome
OMIA:001695-8090	Reduced scale-3 in Japanese medaka
OMIA:001703-9940	Spider-lamb syndrome
OMIA:001718-9825	Dwarfism, Schmid metaphyseal chondrodysplasia in domestic pig
OMIA:001721-32536	Coat colour, king in cheetah
OMIA:001730-9031	Stringy in chicken
OMIA:001743-9825	Coat colour, patch in domestic pig
OMIA:001744-9913	Resistance to mastitis in cattle
OMIA:001772-9615	Skeletal dysplasia 2
OMIA:001786-9615	Intestinal cobalamin malabsorption, CUBN-related in dog
OMIA:001789-9903	Trypanotolerance in oxen, cattle
OMIA:001794-9669	Cystic fibrosis in domestic ferret
OMIA:001794-9825	Cystic fibrosis in domestic pig
OMIA:001805-9615	Amelogenesis imperfecta in dog
OMIM:100050	Aarskog Syndrome, Autosomal Dominant
OMIM:100070	Familial abdominal aortic aneurysm 1
OMIM:100100	Prune belly syndrome
OMIM:100200	Abducens Palsy
OMIM:100300	Adams-Oliver Syndrome 1
OMIM:100600	acanthosis nigricans
OMIM:100700	Achard syndrome
OMIM:100800	Achondroplasia
OMIM:100820	Achoo Syndrome
OMIM:101000	Neurofibromatosis, Type 2
OMIM:101120	Sakati-Nyhan syndrome
OMIM:101200	acrocephalosyndactylia
OMIM:101400	Saethre-Chotzen syndrome
OMIM:101600	Pfeiffer syndrome
OMIM:101800	Acrodysostosis 1 with or without hormone resistance
OMIM:101805	acrofacial dysostosis, Catania type
OMIM:101840	hereditary papulotranslucent acrokeratoderma
OMIM:101850	PPKP3
OMIM:101900	acrokeratosis verruciformis
OMIM:102000	Acroleukopathy, Symmetric
OMIM:102100	Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma
OMIM:102150	Acromegaloid facial appearance syndrome
OMIM:102200	Pituitary Adenoma, Growth Hormone-Secreting, 1
OMIM:102300	RLS1
OMIM:102350	Acromial Dimples
OMIM:102370	Acromicric dysplasia
OMIM:102400	Acroosteolysis
OMIM:102500	Hajdu-Cheney syndrome
OMIM:102510	ACRPV
OMIM:102520	Acrorenal Syndrome
OMIM:102530	Spermatogenic Failure 6
OMIM:102650	Adactylia, Unilateral
OMIM:102660	Adamantinoma of Long Bones
OMIM:102700	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency
OMIM:102730	Adenosine Deaminase, Elevated, Hemolytic Anemia Due to
OMIM:102800	Adenosine Triphosphatase Deficiency, Anemia Due to
OMIM:102900	Adenosine Triphosphate, Elevated, of Erythrocytes
OMIM:103050	Adenylosuccinase Deficiency
OMIM:103100	Adie syndrome
OMIM:103200	Adiposis Dolorosa
OMIM:103230	Adrenocortical Hypofunction, Chronic Primary Congenital
OMIM:103285	Adult Syndrome
OMIM:103300	Hypoglossia-Hypodactylia
OMIM:103400	ainhum
OMIM:103420	Alacrima, Congenital
OMIM:103470	Albinism, Ocular, With Sensorineural Deafness
OMIM:103500	Tietz syndrome
OMIM:103580	Pseudohypoparathyroidism, Type 1A
OMIM:103780	alcohol dependence
OMIM:103900	Hyperaldosteronism, familial, type I
OMIM:103920	Allergic Bronchopulmonary Aspergillosis, Familial
OMIM:104000	AA1
OMIM:104100	Palmoplantar Keratoderma and Congenital Alopecia 1
OMIM:104110	Alopecia, Familial Focal
OMIM:104130	Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
OMIM:104200	Alport Syndrome, Autosomal Dominant
OMIM:104290	Alternating Hemiplegia of Childhood 1
OMIM:104300	Alzheimer Disease
OMIM:104310	Alzheimer's disease 2
OMIM:104350	Amastia, Bilateral, With Ureteral Triplication and Dysmorphism
OMIM:104400	Amelia and Terminal Transverse Hemimelia
OMIM:104500	Amelogenesis Imperfecta, Type 1B
OMIM:104510	amelogenesis imperfecta type 4
OMIM:104530	Amelogenesis Imperfecta, Type 1A
OMIM:104570	Ameloonychohypohidrotic Syndrome
OMIM:104600	Amenorrhea-Galactorrhea Syndrome
OMIM:105120	Amyloidosis, Finnish Type
OMIM:105150	ACys amyloidosis
OMIM:105200	Amyloidosis, Familial Visceral
OMIM:105210	Amyloidosis, Hereditary, Transthyretin-Related
OMIM:105250	Familial primary localized cutaneous amyloidosis
OMIM:105300	Amyotrophic Dystonic Paraplegia
OMIM:105400	Amyotrophic lateral sclerosis type 1
OMIM:105500	Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1
OMIM:105563	Anal Sphincter Dysplasia
OMIM:105565	Anal Sphincter Myopathy, Internal
OMIM:105580	Anal Canal Carcinoma
OMIM:105600	CDAN3
OMIM:105650	Diamond-Blackfan Anemia 1
OMIM:105800	ANIB1
OMIM:105805	Interventricular septum aneurysm
OMIM:105830	Angelman syndrome
OMIM:105835	Angel-shaped phalango-epiphyseal dysplasia
OMIM:106050	Angioma Serpiginosum, Autosomal Dominant
OMIM:106070	Angioma, Hereditary Neurocutaneous
OMIM:106100	Angioedema, Hereditary, Type 1
OMIM:106190	Anhidrosis, isolated, with normal sweat glands
OMIM:106210	Aniridia 1
OMIM:106220	Aniridia and Absent Patella
OMIM:106230	Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract
OMIM:106240	Anisocoria
OMIM:106250	Ankyloblepharon Filiforme Adnatum and Cleft Palate
OMIM:106260	Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
OMIM:106280	Ankyloglossia
OMIM:106300	Spondyloarthropathy, Susceptibility To, 1
OMIM:106400	diffuse idiopathic skeletal hyperostosis
OMIM:106500	Annular Erythema
OMIM:106600	Tooth Agenesis, Selective, 1
OMIM:106700	scimitar syndrome
OMIM:106750	Anonychia with flexural pigmentation
OMIM:106900	Anonychia-Ectrodactyly
OMIM:106990	Anonychia-Onychodystrophy With Brachydactyly Type B and Ectrodactyly
OMIM:106995	Anonychia-Onychodystrophy With Hypoplasia or Absence of Distal Phalanges
OMIM:107000	NDNC6
OMIM:107100	Anorectal Anomalies
OMIM:107200	ANIC
OMIM:107250	Anterior segment mesenchymal dysgenesis
OMIM:107320	Antiphospholipid Syndrome, Familial
OMIM:107480	Townes syndrome
OMIM:107500	Aortic arch anomaly-peculiar facies-intellectual disability syndrome
OMIM:107550	Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma
OMIM:107600	Aplasia cutis congenita
OMIM:107640	Apnea, Central Sleep
OMIM:107650	obstructive sleep apnea
OMIM:107700	Appendicitis, Proneness to
OMIM:107800	arcus senilis
OMIM:107900	Arms, Malformation of
OMIM:107970	arrhythmogenic right ventricular dysplasia 1
OMIM:108000	Arteries, Anomalies of
OMIM:108010	arteriovenous malformations of the brain
OMIM:108050	Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
OMIM:108100	Arthritis, Sacroiliac
OMIM:108120	Arthrogryposis, Distal, Type 1A
OMIM:108145	Arthrogryposis with oculomotor limitation and electroretinal anomalies
OMIM:108200	Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
OMIM:108300	Stickler syndrome type 1
OMIM:108450	Asymmetric Short Stature Syndrome
OMIM:108500	Episodic Ataxia, Type 2
OMIM:108600	spastic ataxia 1
OMIM:108650	SPAX7
OMIM:108700	Ataxia With Fasciculations
OMIM:108720	Atelosteogenesis type I
OMIM:108721	Atelosteogenesis, Type 3
OMIM:108725	ATHS
OMIM:108760	Atresia of External Auditory Canal and Conductive Deafness
OMIM:108770	Atrial Standstill 1
OMIM:108800	ASD1
OMIM:108900	atrial heart septal defect 7
OMIM:108950	Atrial Tachyarrhythmia With Short Pr Interval
OMIM:108985	Helicoid peripapillary chorioretinal degeneration
OMIM:109000	Auriculoosteodysplasia
OMIM:109050	Aurocephalosyndactyly
OMIM:109100	Autoimmune Disease
OMIM:109120	Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities
OMIM:109130	axial osteomalacia
OMIM:109150	Machado-Joseph disease
OMIM:109160	Azotemia, Familial
OMIM:109200	AGA1
OMIM:109300	Banki syndrome
OMIM:109350	GER
OMIM:109400	Gorlin syndrome
OMIM:109500	Primary basilar invagination
OMIM:109543	Leukemia, Chronic Lymphocytic, Susceptibility To, 2
OMIM:109650	Behcet's syndrome
OMIM:109720	PBC1
OMIM:109730	Aortic valve disorder
OMIM:109740	Bifid Nose, Autosomal Dominant
OMIM:109800	Malignant tumor of urinary bladder
OMIM:109820	Bladder Diverticulum
OMIM:109900	Blepharochalasis and Double 51P
OMIM:110000	Blepharochalasis, Superior
OMIM:110050	Blepharonasofacial malformation syndrome
OMIM:110100	Blepharophimosis, Ptosis, and Epicanthus Inversus
OMIM:110150	Blepharoptosis, Myopia, and Ectopia Lentis
OMIM:112200	Blue Rubber Bleb Nevus
OMIM:112240	Cole-Carpenter Syndrome 1
OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma
OMIM:112270	Bone Pain, Periodic
OMIM:112300	Book Syndrome
OMIM:112310	Boomerang dysplasia
OMIM:112350	Weismann-Netter syndrome
OMIM:112370	Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, and Developmental Delay
OMIM:112410	Brachydactyly-arterial hypertension syndrome
OMIM:112430	Brachydactyly-long thumb syndrome
OMIM:112440	Brachydactyly, Combined B and E Types
OMIM:112450	Brachydactyly, Preaxial, With Hallux Varus and Thumb Abduction
OMIM:112500	Brachydactyly, Type A1
OMIM:112600	Brachydactyly, Type A2
OMIM:112700	BDA3
OMIM:112800	Brachydactyly type A4
OMIM:112910	Osebold-Remondini Syndrome
OMIM:113000	Brachydactyly, Type B1
OMIM:113100	Brachydactyly, Type C
OMIM:113200	Brachydactyly, Type D
OMIM:113300	Brachydactyly, Type E1
OMIM:113301	Brachydactyly, Type E, With Atrial Septal Defect, Type 2
OMIM:113310	Brachydactyly-Ectrodactyly With Fibular Aplasia or Hypoplasia
OMIM:113400	Brachydactyly-nystagmus-cerebellar ataxia syndrome
OMIM:113450	Brachydactyly-Distal Symphalangism Syndrome
OMIM:113470	Brachymesomelia-Renal Syndrome
OMIM:113475	Brachymetatarsus 4
OMIM:113477	Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
OMIM:113480	Brachytelephalangy With Characteristic Facies and Kallmann Syndrome
OMIM:113500	Brachyolmia Type 3
OMIM:113600	Branchial Cleft Anomalies
OMIM:113610	Branchial Myoclonus With Spastic Paraparesis and Cerebellar Ataxia
OMIM:113620	branchiooculofacial syndrome
OMIM:113650	Melnick-Fraser syndrome
OMIM:113670	Familial juvenile hypertrophy of the breast
OMIM:113700	BNAH1
OMIM:113800	Bullous ichthyosiform erythroderma
OMIM:113900	Familial progressive cardiac conduction defect
OMIM:113950	Bundle Branch Block, Familial Isolated Complete Right
OMIM:113970	Burkitt lymphoma
OMIM:114000	Caffey disease
OMIM:114030	Cafe-Au-Lait Spots, Multiple
OMIM:114065	Calcific Aortic Disease With Immunologic Abnormalities, Familial
OMIM:114100	Basal Ganglia Calcification, Idiopathic, Childhood-Onset
OMIM:114140	Hereditary painful callosities
OMIM:114150	Camptobrachydactyly
OMIM:114200	Camptodactyly of fingers
OMIM:114290	campomelic dysplasia
OMIM:114300	Gordon syndrome
OMIM:114450	Cancer, Familial, With 1N Vitro Radioresistance
OMIM:114480	Familial cancer of breast
OMIM:114500	Carcinoma of colon
OMIM:114550	Hepatocellular carcinoma
OMIM:114580	CANDF1
OMIM:114600	Canine Teeth, Absence of Upper Permanent
OMIM:114620	Craniofaciofrontodigital syndrome
OMIM:114650	Car Factor Deficiency
OMIM:114700	Carabelli Anomaly of Maxillary Molar Teeth
OMIM:114900	Carcinoid tumor of intestine
OMIM:115000	Cardiac arrhythmia
OMIM:115080	Cardiac Conduction Defect
OMIM:115150	Cardiofaciocutaneous syndrome 1
OMIM:115195	Cardiomyopathy, Familial Hypertrophic, 2
OMIM:115196	Cardiomyopathy, Familial Hypertrophic, 3
OMIM:115197	Cardiomyopathy, Familial Hypertrophic, 4
OMIM:115200	dilated cardiomyopathy 1A
OMIM:115210	Familial restrictive cardiomyopathy 1
OMIM:115250	Collagenoma, Familial Cutaneous
OMIM:115300	Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant
OMIM:115310	Paragangliomas 4
OMIM:115400	Carpal Displacement
OMIM:115430	carpal tunnel syndrome
OMIM:115470	Cat-eye syndrome
OMIM:115645	Cataract-aberrant oral frenula-growth delay syndrome
OMIM:115650	cataract 32 multiple types
OMIM:115660	cataract 7
OMIM:115665	cataract 8 multiple types
OMIM:115700	Cataract 4, Multiple Types
OMIM:115800	CTRCT29
OMIM:115900	Cataract 42
OMIM:116100	cataract 20 multiple types
OMIM:116200	Cataract 1, Multiple Types
OMIM:116300	Cataract 30, Multiple Types
OMIM:116400	Cataract 41
OMIM:116600	Cataract 6, Multiple Types
OMIM:116700	Cataract 13 With Adult I Phenotype
OMIM:116800	Cataract, zonular
OMIM:116860	Familial cerebral cavernous malformation
OMIM:116870	Celiac Artery Stenosis From Compression by Median Arcuate Ligament of Diaphragm
OMIM:116920	Leukocyte adhesion deficiency type 1
OMIM:117000	Central Core Disease of Muscle
OMIM:117100	benign epilepsy with centrotemporal spikes
OMIM:117210	Spinocerebellar ataxia 31
OMIM:117300	Cerebral Amyloid Angiopathy, Itm2B-Related, 2
OMIM:117360	spinocerebellar ataxia type 29
OMIM:117550	Sotos Syndrome 1
OMIM:117600	Cerebral Sarcoma
OMIM:117650	Cerebrocostomandibular Syndrome
OMIM:117850	Cervical Hypertrichosis With Underlying Kyphoscoliosis
OMIM:117900	Cervical Rib
OMIM:118000	Cervical Vertebral Bridge
OMIM:118005	Cervical Vertebral Dysplasia
OMIM:118100	Klippel-Feil Syndrome 1, Autosomal Dominant
OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1b
OMIM:118210	Charcot-Marie-Tooth Disease, Axonal, Type 2A1
OMIM:118220	Charcot-Marie-Tooth disease type 1A
OMIM:118230	Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
OMIM:118300	Charcot-Marie-Tooth Disease and Deafness
OMIM:118301	Charcot-Marie-Tooth Disease With Ptosis and Parkinsonism
OMIM:118330	Cheilitis glandularis
OMIM:118350	Chemodectoma, Intraabdominal, With Cutaneous Angiolipomas
OMIM:118400	Cherubism
OMIM:118420	Arnold-Chiari malformation type I
OMIM:118430	Chlorpropamide-Alcohol Flushing
OMIM:118450	Alagille syndrome 1
OMIM:118600	Chondrocalcinosis 2
OMIM:118610	Chondrocalcinosis Due to Apatite Crystal Deposition
OMIM:118650	autosomal dominant chondrodysplasia punctata
OMIM:118651	Chondrodysplasia punctata, tibial-metacarpal type
OMIM:118700	Chorea, Benign Hereditary
OMIM:118750	Choreoathetosis, Familial Inverted
OMIM:118800	paroxysmal nonkinesigenic dyskinesia 1
OMIM:118830	Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase
OMIM:118865	Choroidal Osteoma, Bilateral
OMIM:118900	Cirrhosis, Familial
OMIM:118980	Congenital pseudoarthrosis of clavicle
OMIM:119000	Cleft Chin
OMIM:119100	SHFLD1
OMIM:119300	Van der Woude syndrome
OMIM:119500	Popliteal Pterygium Syndrome
OMIM:119530	OFC1
OMIM:119540	CPI
OMIM:119550	Cleft palate-lateral synechia syndrome
OMIM:119570	Cleft Soft Palate
OMIM:119580	Blepharo-cheilo-odontic syndrome
OMIM:119600	Cleidocranial dysostosis
OMIM:119650	Cleidorhizomelic syndrome
OMIM:119800	clubfoot
OMIM:119900	Digital Clubbing, Isolated Congenital
OMIM:119915	Cluster Headache, Familial
OMIM:120000	Coarctation of Aorta
OMIM:120040	Cochleosaccular Degeneration With Progressive Cataracts
OMIM:120050	CXB3S
OMIM:120100	Familial Cold Autoinflammatory Syndrome 1
OMIM:120200	Coloboma, Ocular, Autosomal Dominant
OMIM:120300	Coloboma of macula
OMIM:120330	Papillorenal Syndrome
OMIM:120400	Coloboma of macula-brachydactyly type B syndrome
OMIM:120430	Coloboma of Optic Nerve
OMIM:120433	Uveal coloboma-cleft lip and palate-intellectual disability
OMIM:120435	Lynch Syndrome 1
OMIM:120440	Colonic Varices Without Portal Hypertension
OMIM:120450	Comedones, Familial Dyskeratotic
OMIM:120500	Commissural 51P Pits
OMIM:120502	Branchiootic Syndrome 2
OMIM:120790	Complement Component 4, Partial Deficiency of
OMIM:120970	Cone-rod dystrophy 2
OMIM:121050	Congenital contractural arachnodactyly
OMIM:121070	Arthrogryposis, Distal, Type 2E
OMIM:121200	Seizures, Benign Familial Neonatal, 1
OMIM:121201	Seizures, Benign Familial Neonatal, 2
OMIM:121210	FEB1
OMIM:121270	Copper Deficiency, Familial Benign
OMIM:121300	Hereditary coproporphyria
OMIM:121350	Coracoclavicular Joint, Anomalous
OMIM:121390	Cornea Guttata With Anterior Polar Cataracts
OMIM:121400	CNA1
OMIM:121450	Corneal Degeneration, Ribbonlike, With Deafness
OMIM:121800	Schnyder Corneal Dystrophy
OMIM:121820	Corneal Dystrophy, Epithelial Basement Membrane
OMIM:121850	Fleck corneal dystrophy
OMIM:121900	Granular corneal dystrophy type I
OMIM:122000	Corneal Dystrophy, Posterior Polymorphous, 1
OMIM:122100	Meesmann corneal dystrophy
OMIM:122200	Lattice corneal dystrophy Type I
OMIM:122400	Epithelial Recurrent Erosion Dystrophy
OMIM:122430	Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation
OMIM:122440	Stern-Lubinsky-Durrie syndrome
OMIM:122450	Congenital trigeminal anesthesia
OMIM:122455	Coronary Artery Dissection, Spontaneous
OMIM:122460	HCVS
OMIM:122470	Cornelia De Lange Syndrome 1
OMIM:122580	Congenitally short costocoracoid ligament
OMIM:122600	Spondylocostal Dysostosis 5
OMIM:122700	Coumarin Resistance
OMIM:122750	Coxa Vara
OMIM:122780	Coxoauricular syndrome
OMIM:122850	Cranioacrofacial Syndrome
OMIM:122860	Craniodiaphyseal Dysplasia, Autosomal Dominant
OMIM:122880	Craniofacial deafness hand syndrome
OMIM:122900	Craniofacial Dysostosis With Diaphyseal Hyperplasia
OMIM:123000	Craniometaphyseal Dysplasia, Autosomal Dominant
OMIM:123050	Craniorhiny
OMIM:123100	Craniosynostosis 1
OMIM:123150	Jackson-Weiss syndrome
OMIM:123155	Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
OMIM:123320	Creatine phosphokinase, elevated serum
OMIM:123400	Jakob-Creutzfeldt disease
OMIM:123450	Cri-Du-Chat Syndrome
OMIM:123500	Crouzon Syndrome
OMIM:123540	Cryofibrinogenemia, Familial Primary
OMIM:123550	Cryoglobulinemia, Familial Mixed
OMIM:123557	Cryptotia, Familial
OMIM:123560	Cryptomicrotia-Brachydactyly Syndrome
OMIM:123570	Cryptophthalmos, Unilateral or Bilateral, Isolated
OMIM:123700	Cutis laxa, autosomal dominant 1
OMIM:123790	Beare-Stevenson Cutis Gyrata Syndrome
OMIM:123880	Cystic Angiomatosis of Bone, Diffuse
OMIM:124000	Mitochondrial complex III deficiency
OMIM:124100	Balkan nephropathy
OMIM:124200	keratosis follicularis
OMIM:124300	Darwinian Tubercle of Pinna
OMIM:124400	Darwinian Tubercle of Pinna
OMIM:124480	Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
OMIM:124490	Deafness-ear malformation-facial palsy syndrome
OMIM:124500	Keratoderma hereditarium mutilans
OMIM:124700	Deafness, Mid-Tone Neural
OMIM:124900	autosomal dominant nonsyndromic deafness 1
OMIM:124950	Deafness, Sensorineural, With Peripheral Neuropathy and Arterial Disease
OMIM:125000	Deafness, Unilateral
OMIM:125050	Deafness With Anhidrotic Ectodermal Dysplasia
OMIM:125230	Deafness-Craniofacial Syndrome
OMIM:125250	Optic Atrophy With or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy
OMIM:125280	Dens Evaginatus
OMIM:125300	Dens 1N Dente and Palatal Invaginations
OMIM:125310	cadasil
OMIM:125320	Dementia/Parkinsonism With Non-Alzheimer Amyloid Plaques
OMIM:125350	Failure of tooth eruption, primary
OMIM:125370	Dentatorubral pallidoluysian atrophy
OMIM:125400	Dentin Dysplasia, Type 1
OMIM:125420	Dentin dysplasia type II
OMIM:125440	Dentin dysplasia-sclerotic bones syndrome
OMIM:125460	Deoxyribose-5-Phosphate Aldolase Deficiency
OMIM:125480	MAFD1
OMIM:125490	Dentinogenesis imperfecta type 2
OMIM:125500	Dentinogenesis imperfecta - Shield's type III
OMIM:125520	Congenital unilateral hypoplasia of depressor anguli oris
OMIM:125540	Dermal Ridges, Patternless
OMIM:125595	Dermatopathia pigmentosa reticularis
OMIM:125600	dermatosis papulosa nigra
OMIM:125630	Vibratory Urticaria
OMIM:125635	Dermographism, Familial
OMIM:125640	Dermo-odonto dysplasia
OMIM:125700	Hereditary central diabetes insipidus
OMIM:125800	Diabetes Insipidus, Nephrogenic, Autosomal
OMIM:125850	Maturity-Onset Diabetes of the Young, Type 1
OMIM:125851	Maturity-Onset Diabetes of the Young, Type 2
OMIM:125852	type 1 diabetes mellitus 2
OMIM:125853	Diabetes Mellitus, Noninsulin-Dependent
OMIM:125900	Diastema, Dental Medial
OMIM:126050	Digitotalar Dysmorphism
OMIM:126070	Dilution, Pigmentary
OMIM:126180	Discrimination, Two-Point, Reduction 1N
OMIM:126190	Disproportionate Short Stature With Ptosis and Valvular Heart Lesions
OMIM:126200	Multiple Sclerosis, Susceptibility to
OMIM:126250	Distal Osteosclerosis
OMIM:126300	Distichiasis
OMIM:126320	Distichiasis With Congenital Anomalies of the Heart and Peripheral Vasculature
OMIM:126500	Double Nail for Fifth Toe
OMIM:126550	Doughnut Lesions of Skull, Familial
OMIM:126600	Doyne honeycomb retinal dystrophy
OMIM:126700	Basal laminar drusen
OMIM:126800	DURS1
OMIM:126840	Duodenal Ulcer Due to Antral G-Cell Hyperfunction
OMIM:126850	Duodenal Ulcer, Hyperpepsinogenemic 1
OMIM:126900	Dupuytren Contracture
OMIM:126950	Dwarfism With Tall Vertebrae
OMIM:127000	Kenny-Caffey Syndrome, Type 2
OMIM:127100	Dwarfism, Levi Type
OMIM:127200	Dwarfism With Stiff Joints and Ocular Abnormalities
OMIM:127300	Leri Weill dyschondrosteosis
OMIM:127350	Dyschondrosteosis-nephritis syndrome
OMIM:127400	dyschromatosis symmetrica hereditaria
OMIM:127500	Dyschromatosis universalis
OMIM:127550	Dyskeratosis congenita autosomal dominant
OMIM:127600	HBID
OMIM:127700	Dyslexia 1
OMIM:127750	Dementia, Lewy Body
OMIM:127800	Dysplasia epiphysealis hemimelica
OMIM:127820	Carpotarsal osteochondromatosis
OMIM:128000	Dystelephalangy
OMIM:128100	Dystonia 1, Torsion, Autosomal Dominant
OMIM:128101	torsion dystonia 4
OMIM:128200	Episodic Kinesigenic Dyskinesia 1
OMIM:128230	Dystonia, Dopa-Responsive
OMIM:128235	dystonia 12
OMIM:128290	Ear Antitragus, Tag at Base of
OMIM:128300	Ear Exostoses
OMIM:128500	Ear Folding
OMIM:128600	Ear Malformation
OMIM:128700	Preauricular Fistulae, Congenital
OMIM:128710	Ear Pits, Posterior Helical
OMIM:128800	Ear Without Helix
OMIM:128980	Thickened earlobes-conductive deafness syndrome
OMIM:129000	Earring Holes, Natural
OMIM:129150	E11S
OMIM:129200	Absence of fingerprints-congenital milia syndrome
OMIM:129400	Rapp-Hodgkin ectodermal dysplasia syndrome
OMIM:129490	Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
OMIM:129500	Clouston syndrome
OMIM:129510	Ectodermal Dysplasia, Trichoodontoonychial Type
OMIM:129540	Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance and Preaxial Polydactyly of Feet
OMIM:129550	Ectodermal Dysplasia With Adrenal Cyst
OMIM:129600	Ectopia lentis, isolated, autosomal dominant
OMIM:129750	Ectopia Pupillae
OMIM:129810	Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/Palate
OMIM:129830	Ectrodactyly-Cleft Palate Syndrome
OMIM:129840	Edema, Familial Idiopathic, Prepubertal
OMIM:129850	Edinburgh malformation syndrome
OMIM:129900	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
OMIM:130000	Ehlers-Danlos syndrome, classic type
OMIM:130020	Ehlers-Danlos syndrome, type 3
OMIM:130050	Ehlers-Danlos syndrome, type 4
OMIM:130060	Ehlers-Danlos Syndrome, Type Vii, Autosomal Dominant
OMIM:130070	Ehlers-Danlos Syndrome With Short Stature and Limb Anomalies
OMIM:130080	Ehlers-Danlos syndrome, periodontitis type
OMIM:130090	Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
OMIM:130100	Elastosis perforans serpiginosa
OMIM:130200	Electroencephalographic Peculiarity: 14 and 6 Per Sec. Positive Spike Phenomenon
OMIM:130300	Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
OMIM:130400	Electroencephalographic Peculiarity: Occipital Slow Beta Waves
OMIM:130600	Elliptocytosis 2
OMIM:130650	Beckwith-Wiedemann syndrome
OMIM:130700	Emphysema, Hereditary Pulmonary
OMIM:130710	Congenital lobar emphysema
OMIM:130720	Lateral Meningocele Syndrome
OMIM:130900	Amelogenesis Imperfecta, Type 3A
OMIM:130950	Encephalopathy, Recurrent, of Childhood
OMIM:131100	multiple endocrine neoplasia type 1
OMIM:131200	Endometriosis, Susceptibility To, 1
OMIM:131300	Camurati-Engelmann Disease
OMIM:131400	Eosinophilia, Familial
OMIM:131430	Eosinophilopenia
OMIM:131440	Myeloproliferative Disorder, Chronic, With Eosinophilia
OMIM:131600	Epidermoid Cysts
OMIM:131705	Transient bullous dermolysis of the newborn
OMIM:131750	Epidermolysis Bullosa Dystrophica, Autosomal Dominant
OMIM:131760	Epidermolysis Bullosa Simplex, Dowling-Meara Type
OMIM:131800	Epidermolysis bullosa simplex, Cockayne-Touraine type
OMIM:131850	Epidermolysis Bullosa Dystrophica, Pretibial
OMIM:131880	Epidermolysis Bullosa With Deficiency of Galactosylhydroxylysyl Glucosyltransferase
OMIM:131900	Epidermolysis Bullosa Simplex, Generalized
OMIM:131950	epidermolysis bullosa simplex Ogna type
OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation
OMIM:132000	Epidermolysis Bullosa With Congenital Localized Absence of Skin and Deformity of Nails
OMIM:132090	Epilepsy, Benign Occipital
OMIM:132100	PPR1
OMIM:132300	Epilepsy, Reading
OMIM:132400	Multiple epiphyseal dysplasia type 1
OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness
OMIM:132500	Epistaxis, Hereditary
OMIM:132600	Pilomatrixoma
OMIM:132700	Cylindromatosis, familial
OMIM:132800	Multiple self-healing squamous epithelioma
OMIM:132900	Aortic aneurysm, familial thoracic 4
OMIM:132990	Erythema Nodosum, Familial
OMIM:133000	Erythema Palmare Hereditarium
OMIM:133020	Erythermalgia, Primary
OMIM:133100	familial erythrocytosis 1
OMIM:133180	Acute myeloid leukemia, M6 type
OMIM:133190	Spinocerebellar Ataxia 34
OMIM:133200	Erythrokeratodermia variabilis
OMIM:133239	Malignant tumor of esophagus
OMIM:133240	Esophageal Ring, Lower
OMIM:133500	Exchondrosis of Pinna, Posterior
OMIM:133540	Cockayne syndrome B
OMIM:133600	Exostoses of Heel
OMIM:133690	Exostoses With Anetodermia and Brachydactyly, Type E
OMIM:133700	Multiple congenital exostosis
OMIM:133701	Multiple exostoses type 2
OMIM:133705	External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
OMIM:133750	Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
OMIM:133780	Familial exudative vitreoretinopathy
OMIM:133900	Hemifacial hypertrophy
OMIM:134000	Facial Hypertrichosis
OMIM:134200	Facial Palsy, Familial Recurrent Peripheral
OMIM:134300	Facial Spasm
OMIM:134400	Factor 5 Excess With Spontaneous Thrombosis
OMIM:134430	Factor 7 and Factor Viii, Combined Deficiency of
OMIM:134500	Factor 8 Deficiency
OMIM:134510	Factor 8 and Factor Ix, Combined Deficiency of
OMIM:134520	Factors Viii, 9 and Xi, Combined Deficiency of
OMIM:134540	Factor 9 and Factor Xi, Combined Deficiency of
OMIM:134600	FRTS1
OMIM:134610	Familial mediterranean fever, autosomal dominant
OMIM:134700	Favism, susceptibility to
OMIM:134750	Felty's syndrome
OMIM:134780	Femoral-Facial Syndrome
OMIM:134900	Fibrinolytic Defect
OMIM:135100	fibrodysplasia ossificans progressiva
OMIM:135150	Multiple fibrofolliculomas
OMIM:135290	Desmoid disease, hereditary
OMIM:135300	Fibromatosis, Gingival, 1
OMIM:135400	Gingival fibromatosis with hypertrichosis
OMIM:135500	Zimmermann-Laband syndrome
OMIM:135550	Fibromatosis, Gingival, With Progressive Deafness
OMIM:135580	Fibromuscular Dysplasia
OMIM:135700	Fibrosis of Extraocular Muscles, Congenital, 1
OMIM:135750	Laurin-Sandrow syndrome
OMIM:135800	Fibula, Recurrent Dislocation of Head of
OMIM:135900	Coffin-Siris syndrome 1
OMIM:135950	Eng-Strom syndrome
OMIM:136000	Isolated congenital adermatoglyphia
OMIM:136120	Fish-eye disease
OMIM:136140	Floating-Harbor syndrome
OMIM:136150	Flood Factor Deficiency
OMIM:136200	Flushing of Ears and Somnolence
OMIM:136300	Flynn-Aird syndrome
OMIM:136400	Focal Epithelial Hyperplasia of the Oral Mucosa
OMIM:136480	Familial congenital palsy of trochlear nerve
OMIM:136500	Focal facial dermal dysplasia type I
OMIM:136520	Foveal hypoplasia and presenile cataract syndrome
OMIM:136550	Macular Dystrophy, Retinal, 1, North Carolina Type
OMIM:136570	Chromosome 16P12.1 Deletion Syndrome, 520-Kb
OMIM:136580	Fragile Site, Distamycin a Type, Rare, Fra(16)(Q22.1)
OMIM:136600	Friedreich Ataxia, So-Called, With Optic Atrophy and Sensorineural Deafness
OMIM:136630	Mental retardation, fra12a type
OMIM:136680	Frasier syndrome
OMIM:136760	Frontonasal Dysplasia 1
OMIM:136800	Corneal Dystrophy, Fuchs Endothelial, 1
OMIM:136880	Pigmentary retinal dystrophy
OMIM:136900	Sorsby Fundus Dystrophy
OMIM:137000	Futcher Line
OMIM:137040	Gallbladder, Agenesis of
OMIM:137050	Gamma-A-Globulin, Defect 1N Assembly of
OMIM:137100	IGAD1
OMIM:137130	Gastric Sneezing
OMIM:137200	Gamstorp-Wohlfart syndrome
OMIM:137210	Gastric Volvulus, Intrathoracic
OMIM:137215	Gastric Cancer, Hereditary Diffuse
OMIM:137245	MALT lymphoma
OMIM:137270	Gastrocutaneous syndrome
OMIM:137280	gastric mucosal hypertrophy
OMIM:137360	Genochondromatosis
OMIM:137370	Genu Valgum, St. Helena Familial
OMIM:137400	fissured tongue
OMIM:137440	Gerstmann-Straussler-Scheinker syndrome
OMIM:137500	Giant Neutrophil Leukocytes
OMIM:137550	Melanocytic Nevus Syndrome, Congenital
OMIM:137560	Giant Platelet Syndrome With Thrombocytopenia
OMIM:137575	Gigantiform Cementoma, Familial
OMIM:137580	Tourette Syndrome
OMIM:137600	Iridogoniodysgenesis, Type 2
OMIM:137700	Glaucoma With Elevated Episcleral Venous Pressure
OMIM:137750	Primary open angle glaucoma juvenile onset 1
OMIM:137760	primary open angle glaucoma
OMIM:137763	Glaucoma-sleep apnea syndrome
OMIM:137800	subependymal glioma
OMIM:137900	Globulin Anomaly Involving Beta (2A)-Globulin
OMIM:137920	Renal cysts and diabetes syndrome
OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
OMIM:137950	GFND1
OMIM:138000	Glomuvenous Malformations
OMIM:138070	Glucoglycinuria
OMIM:138500	Hyperglycinuria
OMIM:138770	GMS syndrome
OMIM:138790	Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies
OMIM:138800	Familial multinodular goiter
OMIM:138900	Uric Acid Concentration, Serum, Quantitative Trait Locus 1
OMIM:138920	Granddad Syndrome
OMIM:138930	Grant Syndrome
OMIM:138990	Granulomatous Disease, Chronic, Autosomal Dominant Type
OMIM:139000	Granulosis Rubra Nasi
OMIM:139090	Gray Platelet Syndrome
OMIM:139100	Graying of Hair, Precocious
OMIM:139210	Myhre syndrome
OMIM:139300	Aromatase Excess Syndrome
OMIM:139393	chronic inflammatory demyelinating polyradiculoneuropathy
OMIM:139500	Hairy Ears
OMIM:139600	Hairy Elbows
OMIM:139630	Hairy Nose Tip
OMIM:139650	Hairy Palms and Soles
OMIM:139750	Hand and Foot Deformity With Flat Facies
OMIM:140000	Hand-Foot-Genital Syndrome
OMIM:140300	Hashimoto Thyroiditis
OMIM:140350	Hawkinsinuria
OMIM:140400	PFHB2
OMIM:140450	Heart-hand syndrome type 3
OMIM:140500	Heart, malformation of
OMIM:140600	Osteoarthritis of distal interphalangeal joint
OMIM:140700	Heinz Body Anemias
OMIM:140850	Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe
OMIM:140900	Hemangiomas of Small Intestine
OMIM:141000	Hemangioma-Thrombocytopenia Syndrome
OMIM:141200	Benign familial hematuria
OMIM:141300	HFA
OMIM:141350	Hemifacial Hyperplasia With Strabismus
OMIM:141400	Hemifacial Microsomia With Radial Defects
OMIM:141405	Hemifacial Spasm, Familial
OMIM:141500	Familial hemiplegic migraine type 1
OMIM:141700	Hemolytic Poikilocytic Anemia Due to Reduced Ankyrin Binding Sites
OMIM:141750	alpha thalassemia-intellectual disability syndrome type 1
OMIM:142309	Hemoglobin--Variants for Which the Chain Carrying the Mutation 1S Unknown or Uncertain
OMIM:142330	Hepatic Adenomas, Familial
OMIM:142340	Congenital diaphragmatic hernia
OMIM:142350	Hernia, Double Inguinal
OMIM:142400	hiatus hernia
OMIM:142500	Heterochromia Iridis
OMIM:142623	Hirschsprung disease 1
OMIM:142625	Hirsutism, Skeletal Dysplasia, and Mental Retardation
OMIM:142630	Histiocytosis, Progressive Mucinous
OMIM:142669	Hip dysplasia, beukes type
OMIM:142680	TNF receptor-associated periodic fever syndrome (TRAPS)
OMIM:142690	Familial acne inversa 1
OMIM:142700	DDH1
OMIM:142900	Holt-Oram Syndrome
OMIM:142945	Holoprosencephaly 3
OMIM:142946	Holoprosencephaly 4
OMIM:143000	Congenital Horner syndrome
OMIM:143050	Humeroradial Synostosis
OMIM:143095	Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
OMIM:143100	Huntington Disease
OMIM:143200	Wagner disease
OMIM:143400	Multicystic renal dysplasia, bilateral
OMIM:143465	Attention deficit hyperactivity disorder
OMIM:143470	Hyperalphalipoproteinemia 1
OMIM:143500	Gilbert syndrome
OMIM:143850	Orthostatic Hypotensive Disorder, Streeten Type
OMIM:143860	Hyperchlorhidrosis, Isolated
OMIM:143870	Hypercalciuria, Absorptive, 2
OMIM:143880	Autosomal recessive infantile hypercalcemia
OMIM:143890	Hypercholesterolemia, Familial
OMIM:144010	Hypercholesterolemia, Autosomal Dominant, Type B
OMIM:144050	Hyperheparinemia
OMIM:144100	Hyperhidrosis, Gustatory
OMIM:144110	HYPRPP
OMIM:144120	Hyperimmunoglobulin G1(A1) Syndrome
OMIM:144150	Hyperkeratosis lenticularis perstans
OMIM:144190	Hyperkeratosis-Hyperpigmentation Syndrome
OMIM:144200	Palmoplantar Keratoderma, Epidermolytic
OMIM:144250	Hyperlipidemia, Familial Combined
OMIM:144300	Hyperlipoproteinemia, Type Ii, and Deafness
OMIM:144600	Hyperlipoproteinemia, Type 4
OMIM:144650	hyperlipoproteinemia type V
OMIM:144700	Renal Cell Carcinoma, Nonpapillary
OMIM:144750	Worth disease
OMIM:144755	Hyperostosis cranialis interna
OMIM:144800	Morgagni-Stewart-Morel syndrome
OMIM:145000	Hyperparathyroidism 1
OMIM:145001	Hyperparathyroidism-jaw tumor syndrome
OMIM:145100	Hyperpigmentation of Eyelids
OMIM:145200	Hyperpigmentation of Fuldauer and Kuijpers
OMIM:145250	Familial progressive hyperpigmentation with or without hypopigmentation
OMIM:145260	Pseudohypoaldosteronism, type 2
OMIM:145270	Hyperproglucagonemia
OMIM:145290	Hyperreflexia
OMIM:145295	Hypersecretion of Adrenal Androgens, Familial
OMIM:145300	Hypersensitivity Pneumonitis, Familial
OMIM:145350	Hypertaurinuric Cardiomyopathy
OMIM:145400	Hypertelorism
OMIM:145410	Autosomal dominant Opitz G/BBB syndrome
OMIM:145420	Hypertelorism, Teebi Type
OMIM:145500	Essential hypertension
OMIM:145590	Hyperthermia, Cutaneous, With Headaches and Nausea
OMIM:145600	Malignant Hyperthermia, Susceptibility To, 1
OMIM:145650	Thyroid Hormone Resistance, Selective Pituitary
OMIM:145680	Hyperthyroxinemia, Dystransthyretinemic
OMIM:145700	Hypertrichosis Lanuginosa Congenita
OMIM:145701	HTC1
OMIM:145750	Hypertriglyceridemia, Familial
OMIM:145800	Hypertrophia Musculorum Vera
OMIM:145900	Dejerine-Sottas disease
OMIM:145980	familial hypocalciuric hypercalcemia 1
OMIM:145981	familial hypocalciuric hypercalcemia 2
OMIM:146000	Hypochondroplasia
OMIM:146110	Hypogonadotropic Hypogonadism 7 With or Without Anosmia
OMIM:146160	Hypomelia With Mullerian Duct Anomalies
OMIM:146200	Hypoparathyroidism, Familial Isolated
OMIM:146255	Hypoparathyroidism, Sensorineural Deafness, and Renal Disease
OMIM:146300	adult hypophosphatasia
OMIM:146350	HBD
OMIM:146390	chromosome 18p deletion syndrome
OMIM:146400	Moved to 125400
OMIM:146450	HYSP3
OMIM:146500	Multiple System Atrophy 1, Susceptibility to
OMIM:146510	Pallister-Hall Syndrome
OMIM:146520	hypotrichosis 2
OMIM:146550	Hypotrichosis 4
OMIM:146590	Ichthyosis hystrix of Curth-Macklin
OMIM:146600	Ichthyosis hystrix gravior
OMIM:146700	Ichthyosis vulgaris
OMIM:146720	Ichthyosis-cheek-eyebrow syndrome
OMIM:146750	Ichthyosis, Lamellar, Autosomal Dominant
OMIM:146800	ichthyosis bullosa of Siemens
OMIM:146830	Immune Deficiency, Familial Variable
OMIM:146840	Immunodeficiency With Defective Leukocyte and Lymphocyte Function and With Response to Histamine-1 Antagonist
OMIM:146850	Immune Suppression
OMIM:147050	Ige Responsiveness, Atopic
OMIM:147060	Hyperimmunoglobulin E syndrome
OMIM:147250	Solitary Median Maxillary Central Incisor
OMIM:147251	Fused mandibular incisors
OMIM:147300	Incisors, Long Upper Central
OMIM:147330	Incisors, Lower Central, Absence of
OMIM:147350	Incisors, Rotation of Upper Central
OMIM:147400	Incisors, Shovel-Shaped
OMIM:147421	inclusion body myositis
OMIM:147430	Indifference to Pain, Congenital, Autosomal Dominant
OMIM:147480	Cholestasis, Intrahepatic, of Pregnancy, 1
OMIM:147530	Insensitivity to Pain With Hyperplastic Myelinopathy
OMIM:147540	Insect Stings, Hypersensitivity to
OMIM:147610	Iris Pigment Layer, Cleavage of
OMIM:147630	Islet Cell Adenomatosis
OMIM:147710	Intussusception
OMIM:147750	IVIC syndrome
OMIM:147770	Johnson neuroectodermal syndrome
OMIM:147791	Jacobsen syndrome
OMIM:147800	Aase-Smith Syndrome 1
OMIM:147820	Internal Carotid Artery, Spontaneous Dissection of
OMIM:147891	Ischiocoxopodopatellar Syndrome
OMIM:147900	Ehlers-Danlos syndrome type 11
OMIM:147920	Kabuki syndrome 1
OMIM:147950	hypogonadotropic hypogonadism 2 with or without anosmia
OMIM:148000	Kaposi Sarcoma, Susceptibility to
OMIM:148050	Kbg Syndrome
OMIM:148100	Keloid Formation
OMIM:148190	Keratitis, hereditary
OMIM:148200	Keratitis Fugax Hereditaria
OMIM:148210	autosomal dominant keratitis-ichthyosis-deafness syndrome
OMIM:148300	Keratoconus 1
OMIM:148350	Palmoplantar keratoderma-deafness syndrome
OMIM:148360	Keratoderma, Palmoplantar, With Nail Dystrophy and Hereditary Motor-Sensory Neuropathy
OMIM:148370	Keratolytic winter erythema
OMIM:148390	Keratosis, Familial Actinic
OMIM:148500	Howel-Evans syndrome
OMIM:148520	Keratosis palmaris et plantaris-clinodactyly syndrome
OMIM:148600	Palmoplantar Keratoderma, Punctate Type 1A
OMIM:148700	Palmoplantar Keratoderma I, Striate, Focal, or Diffuse
OMIM:148730	Keratosis, Focal Palmoplantar and Gingival
OMIM:148800	Isolated cloverleaf skull syndrome
OMIM:148820	Waardenburg syndrome type 3
OMIM:148840	Kleine-Levin syndrome
OMIM:149000	Klippel-Trenaunay syndrome
OMIM:149100	Knuckle Pads
OMIM:149200	Knuckle pads, deafness AND leukonychia syndrome
OMIM:149300	NDNC2
OMIM:149400	Hyperekplexia, Hereditary 1
OMIM:149500	Kyrle Disease
OMIM:149600	Labia Minora, Incomplete Adhesion of
OMIM:149700	Lacrimal duct defect
OMIM:149730	LADD syndrome
OMIM:150170	Lactic Acidosis, Chronic Adult Form
OMIM:150230	trichorhinophalangeal syndrome type II
OMIM:150250	Larsen Syndrome
OMIM:150260	Laryngeal Abductor Paralysis
OMIM:150270	LAP
OMIM:150280	Congenital laryngomalacia
OMIM:150300	Larynx atresia
OMIM:150360	Congenital laryngeal web
OMIM:150400	Tooth Agenesis, Selective, 4
OMIM:150500	Lattice Degeneration of Retina Leading to Retinal Detachment
OMIM:150550	Lazy Leukocyte Syndrome
OMIM:150590	Leg Ulcers, Familial, of Juvenile Onset
OMIM:150600	Legg-Calve-Perthes Disease
OMIM:150699	uterine fibroid
OMIM:150700	Leiomyoma of Vulva and Esophagus
OMIM:150800	Hereditary leiomyomatosis and renal cell cancer
OMIM:150900	Lentigines
OMIM:151000	Lentiginosis, Centrofacial Neurodysraphic
OMIM:151001	Lentiginosis, Inherited Patterned
OMIM:151050	Lenz-Majewski Hyperostotic Dwarfism
OMIM:151100	LEOPARD syndrome 1
OMIM:151200	Leri pleonosteosis
OMIM:151210	Platyspondylic dysplasia, Torrance type
OMIM:151380	acute monocytic leukemia
OMIM:151400	Chronic lymphocytic leukemia
OMIM:151500	Leukocyte Nuclear Appendages, Hereditary Prevalence of
OMIM:151590	Lichen Sclerosus Et Atrophicus
OMIM:151600	nonsyndromic congenital nail disorder 3
OMIM:151610	Levator-Medial Rectus Synkinesis
OMIM:151620	Lichen Planus, Familial
OMIM:151623	Li-Fraumeni Syndrome 1
OMIM:151630	Lip, Median Nodule of Upper
OMIM:151640	Lip, Hamartomatous
OMIM:151660	Familial partial lipodystrophy, Dunnigan type
OMIM:151700	Lipoma of the Conjunctiva
OMIM:151800	Lipomatosis, Multiple Symmetric
OMIM:151900	lipoma
OMIM:152420	Lithium Transport
OMIM:152550	Lumbar Stenosis, Familial
OMIM:152700	Systemic Lupus Erythematosus
OMIM:152800	Lymphangiectasia, Intestinal
OMIM:152900	Lymphedema-cerebral arteriovenous anomaly syndrome
OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
OMIM:153100	Lymphedema, Hereditary, 1A
OMIM:153200	LMPH2
OMIM:153300	yellow nail syndrome
OMIM:153400	Lymphedema-distichiasis syndrome
OMIM:153470	Macrocephaly, Benign Familial
OMIM:153480	Bannayan-Riley-Ruvalcaba Syndrome
OMIM:153550	chromosome 5q deletion syndrome
OMIM:153600	WM1
OMIM:153630	Macroglossia
OMIM:153640	Fechtner Syndrome
OMIM:153650	Epstein syndrome
OMIM:153670	Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
OMIM:153700	Vitelliform macular dystrophy type 2
OMIM:153800	age related macular degeneration 2
OMIM:153840	VMD1
OMIM:153870	Macular Dystrophy, Concentric Annular
OMIM:153880	DCMD
OMIM:153890	Macular Dystrophy, Fenestrated Sheen Type
OMIM:154020	renal hypomagnesemia 2
OMIM:154230	46,XY sex reversal, type 4
OMIM:154275	Malignant Hyperthermia, Susceptibility To, 2
OMIM:154276	Malignant Hyperthermia, Susceptibility To, 3
OMIM:154300	Malocclusion Due to Protuberant Upper Front Teeth
OMIM:154400	Nager syndrome
OMIM:154500	Treacher Collins syndrome 1
OMIM:154570	Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type
OMIM:154600	jaw-winking syndrome
OMIM:154700	Marfan Syndrome
OMIM:154750	Marfanoid Hypermobility Syndrome
OMIM:154780	Marshall Syndrome
OMIM:154800	Mastocytosis
OMIM:154850	Masticatory Muscles, Hypertrophy of
OMIM:155000	Maxillofacial Dysostosis
OMIM:155050	Maxillonasal Dysplasia, Binder Type
OMIM:155100	May-Hegglin Anomaly
OMIM:155140	Meckel Diverticulum
OMIM:155145	Pai syndrome
OMIM:155200	Mediosternal Depigmentation Line
OMIM:155240	Familial medullary thyroid carcinoma
OMIM:155255	medulloblastoma
OMIM:155310	Visceral Myopathy
OMIM:155350	Megalencephaly, Autosomal Dominant
OMIM:155500	Megalodactyly
OMIM:155600	CMM1
OMIM:155601	Melanoma, Cutaneous Malignant, Susceptibility To, 2
OMIM:155700	Melanoma, Malignant Familial Intraocular
OMIM:155720	Melanoma, Uveal
OMIM:155755	Melanoma-Astrocytoma Syndrome
OMIM:155900	Melkersson-Rosenthal syndrome
OMIM:155950	Melorheostosis, Isolated
OMIM:155980	Delayed membranous cranial ossification
OMIM:156000	Meniere's disease
OMIM:156190	Mental and Growth Retardation With Amblyopia
OMIM:156200	Mental Retardation, Autosomal Dominant 1
OMIM:156220	Meralgia Paraesthetica, Familial
OMIM:156230	Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
OMIM:156232	MMDK
OMIM:156240	malignant mesothelioma
OMIM:156250	Metachondromatosis
OMIM:156310	Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase a
OMIM:156400	Metaphyseal chondrodysplasia, Jansen type
OMIM:156500	Metaphyseal Chondrodysplasia, Schmid Type
OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly
OMIM:156520	Metatarsus Varus, Type 1
OMIM:156530	Metatrophic dysplasia
OMIM:156550	Kniest Dysplasia
OMIM:156580	autosomal dominant microcephaly
OMIM:156600	Congenital microcoria
OMIM:156610	Multiple benign circumferential skin creases on limbs
OMIM:156620	Microcephaly-Deafness Syndrome
OMIM:156700	Microcornea-glaucoma-absent frontal sinuses syndrome
OMIM:156810	Microgastria-Limb Reduction Defects Association
OMIM:156830	Micromelic Bone Dysplasia With Cloverleaf Skull
OMIM:156850	MCOPCT1
OMIM:156900	Microphthalmia, Isolated, With Corectopia
OMIM:157150	Microspherophakia With Hernia
OMIM:157151	Microspherophakia-metaphyseal dysplasia syndrome
OMIM:157170	Holoprosencephaly 2
OMIM:157300	Migraine With or Without Aura, Susceptibility To, 1
OMIM:157400	Milia, Multiple Eruptive
OMIM:157600	Mirror movements 1
OMIM:157640	Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
OMIM:157700	Familial mitral valve prolapse
OMIM:157800	Cardiospondylocarpofacial Syndrome
OMIM:157900	Oromandibular-limb hypogenesis spectrum
OMIM:157950	tooth ankylosis
OMIM:157980	Momo Syndrome
OMIM:158000	Monilethrix
OMIM:158100	Monophalangy of Great Toe
OMIM:158170	Chromosome 9P Deletion Syndrome
OMIM:158250	Nondisjunction
OMIM:158280	motion sickness
OMIM:158300	Trismus-pseudocamptodactyly syndrome
OMIM:158310	Hereditary mucoepithelial dysplasia
OMIM:158320	Muir-Torre syndrome
OMIM:158330	Mullerian Aplasia and Hyperandrogenism
OMIM:158345	Multiple Exostoses With Spastic Tetraparesis
OMIM:158350	Cowden syndrome 1
OMIM:158400	Muscle Cramps, Familial
OMIM:158500	Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
OMIM:158580	Neuronopathy, Distal Hereditary Motor, Type 7A
OMIM:158590	Neuronopathy, Distal Hereditary Motor, Type 2A
OMIM:158600	Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
OMIM:158650	Muscular Atrophy, Malignant Neurogenic
OMIM:158800	Muscular Dystrophy, Barnes Type
OMIM:158810	Bethlem myopathy 1
OMIM:158900	Facioscapulohumeral Muscular Dystrophy 1
OMIM:158901	Facioscapulohumeral muscular dystrophy 2
OMIM:159000	autosomal dominant limb-girdle muscular dystrophy type 1A
OMIM:159001	autosomal dominant limb-girdle muscular dystrophy type 1B
OMIM:159050	Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
OMIM:159100	Muscular Hypoplasia, Congenital Universal, of Krabbe
OMIM:159400	Myasthenia, Limb-Girdle, Autoimmune
OMIM:159500	Myelinated Optic Nerve Fibers
OMIM:159550	Ataxia-pancytopenia syndrome
OMIM:159580	Myelopathy, Htlv-1-Associated
OMIM:159595	Myeloproliferative Syndrome, Transient
OMIM:159600	Myoclonic Epilepsy, Hartung Type
OMIM:159700	Myoclonus and Ataxia
OMIM:159800	Myoclonus-cerebellar ataxia-deafness syndrome
OMIM:159900	Dystonia 11, Myoclonic
OMIM:159950	Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
OMIM:160010	Autosomal dominant myoglobinuria
OMIM:160120	episodic ataxia type 1
OMIM:160150	Myopathy, Centronuclear, 1
OMIM:160300	Myopathy, Distal, Infantile-Onset
OMIM:160500	Laing early-onset distal myopathy
OMIM:160565	Myopathy, Tubular Aggregate, 1
OMIM:160570	Myopathy With Storage of Glycoproteins and Glycosaminoglycans
OMIM:160700	MYP2
OMIM:160750	myositis
OMIM:160800	Congenital myotonia, autosomal dominant form
OMIM:160900	Steinert myotonic dystrophy syndrome
OMIM:160980	Carney complex, type 1
OMIM:160990	Myotonic Myopathy With Cylindrical Spirals
OMIM:161000	Naegeli-Franceschetti-Jadassohn Syndrome
OMIM:161050	NDNC1
OMIM:161200	Nail-patella syndrome
OMIM:161400	Narcolepsy 1
OMIM:161470	Nasal Alar Collapse, Bilateral
OMIM:161480	Nasal Bones, Absence of
OMIM:161500	Nasal Groove, Familial Transverse
OMIM:161530	Nasal Hyperpigmentation, Familial Transverse
OMIM:161550	NPCA2
OMIM:161600	Navicular Bone, Accessory
OMIM:161700	Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult
OMIM:161800	Nemaline myopathy 3
OMIM:161900	Autosomal dominant progressive nephropathy with hypertension
OMIM:161950	IGAN1
OMIM:162000	Familial juvenile hyperuricemic nephropathy type 1
OMIM:162091	Schwannomatosis 1
OMIM:162100	Amyotrophy, hereditary neuralgic
OMIM:162200	Neurofibromatosis, Type 1
OMIM:162210	Neurofibromatosis, Familial Spinal
OMIM:162240	Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
OMIM:162260	Neurofibromatosis, Type Iii, Mixed Central and Peripheral
OMIM:162270	Neurofibromatosis, Type Iv, of Riccardi
OMIM:162300	multiple endocrine neoplasia type 2B
OMIM:162350	neuronal ceroid lipofuscinosis 4B
OMIM:162370	Neuropathy, Congenital, With Arthrogryposis Multiplex
OMIM:162380	Neuropathy, Hereditary Sensorimotor, With Upper Motor Neuron, Visual Pathway and Autonomic Disturbance
OMIM:162400	Neuropathy, Hereditary Sensory and Autonomic, Type 1A
OMIM:162500	Neuropathy, Hereditary, With Liability to Pressure Palsies
OMIM:162600	Neuropathy, With Paraprotein 1N Serum, Cerebrospinal Fluid and Urine
OMIM:162700	Neutropenia, Chronic Familial
OMIM:162800	cyclic hematopoiesis
OMIM:162820	NM
OMIM:162830	Hereditary neutrophilia
OMIM:162900	Nevus, Epidermal
OMIM:163000	Familial multiple nevi flammei
OMIM:163050	Nevus Anemicus
OMIM:163100	Nevus Flammeus of Nape of Neck
OMIM:163200	Epidermal nevus syndrome
OMIM:163400	Nievergelt Syndrome
OMIM:163500	Congenital stationary night blindness, autosomal dominant 2
OMIM:163600	Nipples Inverted
OMIM:163700	Nipples, Supernumerary
OMIM:163800	Sick Sinus Syndrome 2
OMIM:163850	Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
OMIM:163950	Noonan Syndrome 1
OMIM:164000	Nose, Anomalous Shape of
OMIM:164100	NYS2
OMIM:164150	Nystagmus, Hereditary Vertical
OMIM:164180	Oculocerebrocutaneous Syndrome
OMIM:164185	Ocular Cicatricial Pemphigoid
OMIM:164200	Oculodentodigital dysplasia
OMIM:164210	Goldenhar syndrome
OMIM:164220	Schilbach-Rott Syndrome
OMIM:164230	Obsessive-Compulsive Disorder
OMIM:164280	Feingold syndrome type 1
OMIM:164300	Oculopharyngeal muscular dystrophy
OMIM:164310	Oculopharyngodistal myopathy
OMIM:164330	Odontoma-Dysphagia Syndrome
OMIM:164400	Spinocerebellar ataxia 1
OMIM:164500	spinocerebellar ataxia type 7
OMIM:164680	Onychogryposis, Pedal, With Keratosis Plantaris and Coarse Hair
OMIM:164700	Olivopontocerebellar Atrophy 5
OMIM:164745	OMOD2
OMIM:164750	Omphalocele, Autosomal
OMIM:164800	NDNC5
OMIM:164900	Ophthalmomandibulomelic Dysplasia
OMIM:165000	Ophthalmoplegia, Familial Static
OMIM:165098	Ophthalmoplegia, Familial Total, With Iris Transillumination
OMIM:165150	Ophthalmoplegia, Progressive, With Scrotal Tongue and Mental Deficiency
OMIM:165199	Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant
OMIM:165200	Optic Atrophy With Demyelinating Disease of Cns
OMIM:165300	Autosomal dominant optic atrophy and cataract
OMIM:165500	Dominant hereditary optic atrophy
OMIM:165510	Optic Atrophy With Negative Electroretinograms
OMIM:165550	Optic Nerve Hypoplasia, Bilateral
OMIM:165590	orofaciodigital syndrome X
OMIM:165600	Syndromic orbital border hypoplasia
OMIM:165660	Oslam Syndrome
OMIM:165670	Ossified Ear Cartilages
OMIM:165680	Ossicular Malformations, Familial
OMIM:165700	Thiemann disease, familial form
OMIM:165720	Osteoarthritis susceptibility 1
OMIM:165800	Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis
OMIM:166000	Enchondromatosis, Multiple, Ollier Type
OMIM:166200	osteogenesis imperfecta type 1
OMIM:166210	osteogenesis imperfecta type 2
OMIM:166220	osteogenesis imperfecta type 4
OMIM:166230	osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures
OMIM:166250	Osteoglophonic dysplasia
OMIM:166260	Gnathodiaphyseal Dysplasia
OMIM:166300	Multicentric carpo-tarsal osteolysis with or without nephropathy
OMIM:166350	Progressive osseous heteroplasia
OMIM:166400	Osteomas of Mandible
OMIM:166450	Osteomesopyknosis
OMIM:166600	Osteopetrosis autosomal dominant type 2
OMIM:166700	Dermatofibrosis lenticularis disseminata
OMIM:166705	Dacryocystitis-osteopoikilosis syndrome
OMIM:166710	Osteoporosis
OMIM:166740	Osteosclerosis With Ichthyosis and Fractures
OMIM:166750	Otodental syndrome
OMIM:166760	Otitis Media, Susceptibility to
OMIM:166780	Otofaciocervical syndrome
OMIM:166800	OTSC1
OMIM:166900	Ovalocytosis, Southeast Asian
OMIM:166910	Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
OMIM:166950	Teratoma, Ovarian
OMIM:166970	Ovarian Fibromata
OMIM:166990	Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
OMIM:167000	Ovarian Cancer
OMIM:167030	Nephrolithiasis, Calcium Oxalate
OMIM:167100	PHOAD
OMIM:167200	Pachyonychia Congenita 1
OMIM:167210	Pachyonychia congenita type 2
OMIM:167220	Pacman dysplasia
OMIM:167250	Paget Disease of Bone 3
OMIM:167300	cutaneous Paget's disease
OMIM:167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia
OMIM:167400	Paroxysmal Extreme Pain Disorder
OMIM:167500	Palatopharyngeal Incompetence
OMIM:167600	Palmaris Longus Muscle, Absence of
OMIM:167730	Nasopalpebral lipoma-coloboma-telecanthus syndrome
OMIM:167750	annular pancreas
OMIM:167755	Pancreas, Dorsal, Agenesis of
OMIM:167800	Pancreatitis, Hereditary
OMIM:167850	Pancytopenia and Occlusive Vascular Disease
OMIM:167870	PAND1
OMIM:167900	CARP
OMIM:167950	Papillomatosis, Florid, of Nipple
OMIM:168000	Jugulotympanic Paraganglioma
OMIM:168100	Paralysis Agitans, Juvenile, of Hunt
OMIM:168200	Paramolar Tubercle of Bolk
OMIM:168300	Paramyotonia congenita of von Eulenburg
OMIM:168400	Parastremmatic Dwarfism
OMIM:168500	Parietal Foramina
OMIM:168550	Parietal Foramina With Cleidocranial Dysplasia
OMIM:168600	Parkinson Disease, Late-Onset
OMIM:168601	Parkinson disease 1
OMIM:168605	Perry syndrome
OMIM:168800	Parotidomegaly, Hereditary Bilateral
OMIM:168830	Passovoy Factor Defect
OMIM:168860	PTLAH
OMIM:168885	Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
OMIM:168900	chondromalacia patellae
OMIM:169000	Patella, Familial Recurrent Dislocation of
OMIM:169100	Char Syndrome
OMIM:169150	Patterned dystrophy of retinal pigment epithelium
OMIM:169170	Patterson Pseudoleprechaunism Syndrome
OMIM:169200	Pechet Factor Deficiency
OMIM:169300	Pectus Excavatum
OMIM:169400	Pelger-Huet Anomaly
OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant
OMIM:169545	Pelvic Lipomatosis With Crossed Renal Ectopia
OMIM:169550	Pelvis-shoulder dysplasia
OMIM:169600	Benign Chronic Pemphigus
OMIM:169610	Pemphigus Vulgaris, Familial
OMIM:170100	Prolidase deficiency
OMIM:170390	Andersen Tawil syndrome
OMIM:170400	Hypokalemic periodic paralysis 1
OMIM:170500	hyperkalemic periodic paralysis
OMIM:170600	Normokalemic Periodic Paralysis
OMIM:170650	Periodontitis, Aggressive, 1
OMIM:170700	Peripheral dysostosis
OMIM:170900	pernicious anemia
OMIM:170980	Peroneal Nerve, Accessory Deep
OMIM:171000	Peyronie's disease
OMIM:171100	Phagocytosis, Plasma-Related Defect 1N
OMIM:171200	Thiourea Tasting
OMIM:171300	Pheochromocytoma
OMIM:171400	multiple endocrine neoplasia type 2A
OMIM:171420	Pheochromocytoma--Islet Cell Tumor Syndrome
OMIM:171450	Phlebectasia of Lips
OMIM:171480	Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia
OMIM:172150	6-Phosphogluconolactonase Deficiency
OMIM:172500	Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction
OMIM:172700	Pick's disease
OMIM:172800	Piebald Trait
OMIM:172850	Piebald Trait With Neurologic Defects
OMIM:172870	Pigmented paravenous retinochoroidal atrophy
OMIM:172880	Pierre Robin Syndrome and Oligodactyly
OMIM:172900	Pigmented Purpuric Eruption
OMIM:173000	Pilonidal Sinus
OMIM:173100	Isolated Growth Hormone Deficiency, Type 2
OMIM:173200	Pityriasis Rubra Pilaris
OMIM:173400	Platelet Aggregation, Spontaneous
OMIM:173420	Platelet Disorder, Undefined
OMIM:173450	Platelet Factor 3 Deficiency
OMIM:173580	Platelet Responsiveness to Adrenaline, Depressed
OMIM:173590	Platelet Signal Processing Defect
OMIM:173600	Familial spontaneous pneumothorax
OMIM:173650	Kindler's syndrome
OMIM:173700	Poikiloderma, Hereditary Sclerosing
OMIM:173800	Poland Syndrome
OMIM:173900	Polycystic kidney disease, adult type
OMIM:174000	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
OMIM:174050	Isolated polycystic liver disease
OMIM:174200	Polydactyly, Postaxial, Type A1
OMIM:174300	orofaciodigital syndrome V
OMIM:174310	Polydactyly, Postaxial, With Progressive Myopia
OMIM:174400	Polydactyly, Preaxial 1
OMIM:174500	Polydactyly, Preaxial 2
OMIM:174600	Polydactyly, Preaxial 3
OMIM:174700	Polydactyly, Preaxial 4
OMIM:174770	Actinic Prurigo
OMIM:174800	Mccune-Albright Syndrome
OMIM:174810	Familial Expansile Osteolysis
OMIM:174900	Juvenile Polyposis Syndrome
OMIM:175020	Polyposis, Gastric
OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
OMIM:175100	Familial adenomatous polyposis 1
OMIM:175200	Peutz-Jeghers Syndrome
OMIM:175400	Polyposis, Intestinal, Scattered and Discrete
OMIM:175450	Polyposis, Intestinal, With Multiple Exostoses
OMIM:175500	Cronkhite-Canada syndrome
OMIM:175505	Polyposis of Gastric Fundus Without Polyposis Coli
OMIM:175510	Polyps, Multiple and Recurrent Inflammatory Fibroid, Gastrointestinal
OMIM:175690	Polysyndactyly, Crossed
OMIM:175700	Greig cephalopolysyndactyly syndrome
OMIM:175750	Popliteal Cyst
OMIM:175780	Porencephaly 1
OMIM:175800	POROK1
OMIM:175850	POROK2
OMIM:175860	PPKP2
OMIM:175900	Porokeratosis, disseminated superficial actinic 1
OMIM:176000	Porphyria, Acute Intermittent
OMIM:176090	Sporadic porphyria cutanea tarda
OMIM:176100	Porphyria Cutanea Tarda
OMIM:176200	variegate porphyria
OMIM:176240	Postaxial Oligodactyly, Tetramelic
OMIM:176250	Posterior Column Ataxia
OMIM:176270	Prader-Willi syndrome
OMIM:176305	Preaxial deficiency, postaxial polydactyly and hypospadias
OMIM:176400	Precocious Puberty, Central, 1
OMIM:176410	Precocious Puberty, Male-Limited
OMIM:176430	Premature Chromatid Separation Trait
OMIM:176450	Currarino triad
OMIM:176500	Cerebral Amyloid Angiopathy, Itm2B-Related, 1
OMIM:176600	Presenile Dementia, Kraepelin Type
OMIM:176620	Priapism, Familial Idiopathic
OMIM:176630	Primary Release Disorder of Platelets
OMIM:176670	progeria
OMIM:176690	Progeroid Short Stature With Pigmented Nevi
OMIM:176700	Prognathism, Mandibular
OMIM:176780	rectal prolapse
OMIM:176800	Pronation-Supination of the Forearm, Impairment of
OMIM:176807	Malignant tumor of prostate
OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
OMIM:176920	Proteus syndrome
OMIM:177000	Protoporphyria, Erythropoietic
OMIM:177050	Protrusio Acetabuli
OMIM:177100	Pruritus, Hereditary Localized
OMIM:177170	pseudoachondroplasia
OMIM:177200	Liddle Syndrome
OMIM:177300	Pseudoarthrogryposis
OMIM:177350	Pseudoatrophoderma Colli
OMIM:177600	Pseudocholinesterase, Increase 1N Plasma Level of
OMIM:177650	exfoliation syndrome
OMIM:177700	Glaucoma 1, Open Angle, P
OMIM:177735	Pseudohypoaldosteronism, Type I, Autosomal Dominant
OMIM:177800	pseudopapilledema
OMIM:177820	Pseudo von Willebrand disease
OMIM:177850	Pseudoxanthoma elasticum, forme fruste
OMIM:177900	Psoriasis susceptibility 1
OMIM:177980	Short stature-craniofacial anomalies-genital hypoplasia syndrome
OMIM:177990	Pterygium Colli, Isolated
OMIM:178000	Pterygium of Conjunctiva and Cornea
OMIM:178110	Autosomal dominant multiple pterygium syndrome
OMIM:178200	Pterygium, Antecubital
OMIM:178300	PTOS1
OMIM:178330	Ptosis-strabismus-ectopic pupils syndrome
OMIM:178350	Pubic Bone Dysplasia
OMIM:178370	Pulmonary Atresia With Ventricular Septal Defect
OMIM:178400	Pulmonary Edema of Mountaineers, Susceptibility to
OMIM:178500	Pulmonary Fibrosis, Idiopathic
OMIM:178550	pulmonary hemosiderosis
OMIM:178600	Primary pulmonary hypertension
OMIM:178610	Pulmonary nodular lymphoid hyperplasia
OMIM:178650	Pulmonic Stenosis, Atrial Septal Defect, and Unique Electrocardiographic Abnormalities
OMIM:178651	Pulmonic Stenosis and Deafness
OMIM:178800	Pupil, Egg-Shaped
OMIM:178900	Pupillary Membrane, Persistence of
OMIM:178995	Pruritic urticarial papules and plaques of pregnancy
OMIM:179000	Purpura Simplex
OMIM:179010	IHPS1
OMIM:179200	Radial Heads, Posterior Dislocation of
OMIM:179250	Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
OMIM:179270	Radial ray hypoplasia-choanal atresia syndrome
OMIM:179280	Radio-renal syndrome
OMIM:179300	radioulnar synostosis
OMIM:179400	Radius, Aplasia Of, With Cleft Lip/Palate
OMIM:179450	Ragweed Sensitivity
OMIM:179500	Raindrop Hypopigmentation
OMIM:179600	Raynaud disease
OMIM:179613	Recombinant 8 syndrome
OMIM:179650	Red Cell Permeability Defect
OMIM:179700	Red Cell Phospholipid Defect With Hemolysis
OMIM:179800	Autosomal dominant distal renal tubular acidosis
OMIM:179830	Renal Tubular Acidosis, Proximal
OMIM:179840	Reticular Dystrophy of Retinal Pigment Epithelium
OMIM:179850	Dowling-Degos disease
OMIM:179900	Retinal Aplasia
OMIM:180000	Retinal Arteries, Tortuosity of
OMIM:180020	RCD1
OMIM:180050	Retinal Detachment
OMIM:180080	Retinal Venous Beading
OMIM:180100	Retinitis Pigmentosa 1
OMIM:180104	retinitis pigmentosa 9
OMIM:180105	Retinitis Pigmentosa 10
OMIM:180200	retinoblastoma
OMIM:180210	Retinopathy, Pericentral Pigmentary, Dominant
OMIM:180270	Retinoschisis, Autosomal Dominant
OMIM:180300	Rheumatoid Arthritis
OMIM:180350	Rheumatoid Nodulosis
OMIM:180360	Rhiny
OMIM:180500	Axenfeld-Rieger Syndrome, Type 1
OMIM:180550	Ring Dermoid of Cornea
OMIM:180600	Ringed Hair
OMIM:180700	autosomal dominant Robinow syndrome 1
OMIM:180730	Rombo syndrome
OMIM:180750	Robinow-Sorauf Syndrome
OMIM:180800	Roussy-LC)vy syndrome
OMIM:180849	Rubinstein-Taybi Syndrome 1
OMIM:180860	Silver-Russell syndrome
OMIM:180870	Ruvalcaba Syndrome
OMIM:180900	Rutherfurd Syndrome
OMIM:180920	Aplasia of lacrimal and salivary glands
OMIM:181000	Sarcoidosis 1
OMIM:181010	Salivary Duct Calculi
OMIM:181030	Salivary Gland Adenoma, Pleomorphic
OMIM:181180	Say Syndrome
OMIM:181250	Scalp Defects and Postaxial Polydactyly
OMIM:181270	Scalp ear nipple syndrome
OMIM:181300	Scapula, Contour of Vertebral Border of
OMIM:181350	Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
OMIM:181400	Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
OMIM:181405	Scapuloperoneal spinal muscular atrophy
OMIM:181430	MYH7-related late-onset scapuloperoneal muscular dystrophy
OMIM:181440	Scheuermann Disease
OMIM:181450	Ulnar-mammary syndrome
OMIM:181460	Schistosoma Mansoni Infection, Susceptibility/Resistance to
OMIM:181500	Schizophrenia
OMIM:181510	SCZD1
OMIM:181515	Moved to 300977
OMIM:181600	Palmoplantar keratoderma-sclerodactyly syndrome
OMIM:181700	Sclerocornea, Autosomal Dominant
OMIM:181750	Scleroderma, Familial Progressive
OMIM:181800	IS1
OMIM:182000	Keratosis, Seborrheic
OMIM:182150	Flat face-microstomia-ear anomaly syndrome
OMIM:182170	Anemia, sideroblastic, 4
OMIM:182190	Sinus Node Disease and Myopia
OMIM:182200	Sella Turcica, Bridged
OMIM:182210	Omphalocele syndrome, Shprintzen-Goldberg type
OMIM:182212	Shprintzen-Goldberg Craniosynostosis Syndrome
OMIM:182230	Septooptic Dysplasia
OMIM:182250	Singleton-Merten dysplasia
OMIM:182255	Skeletal Dysplasia With Delayed Epiphyseal and Carpal Bone Ossification
OMIM:182260	Slipped Femoral Capital Epiphyses
OMIM:182280	Small cell lung cancer
OMIM:182290	Smith-Magenis syndrome
OMIM:182410	Sneddon Syndrome
OMIM:182600	hereditary spastic paraplegia 3A
OMIM:182601	Spastic paraplegia 4, autosomal dominant
OMIM:182610	Spastic Paraplegia, Epilepsy, and Mental Retardation
OMIM:182690	Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy
OMIM:182800	Spastic Paraplegia With Associated Extrapyramidal Signs
OMIM:182815	Spastic Paraplegia With Neuropathy and Poikiloderma
OMIM:182820	Spastic Paraplegia With Precocious Puberty
OMIM:182830	Spastic Paraplegia, Optic Atrophy, and Dementia
OMIM:182875	Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
OMIM:182900	Spherocytosis, Type 1
OMIM:182920	spheroid body myopathy
OMIM:182940	Neural Tube Defects, Susceptibility to
OMIM:182950	Spinal Arachnoiditis
OMIM:182960	Distal hereditary motor neuropathy type 1
OMIM:182970	Spinal Muscular Atrophy, Facioscapulohumeral Type
OMIM:182980	Spinal Muscular Atrophy, Late-Onset, Finkel Type
OMIM:182990	Spinal Intradural Arachnoid Cysts
OMIM:183020	Spinal Muscular Atrophy, Segmental
OMIM:183050	Spinocerebellar Ataxia With Rigidity and Peripheral Neuropathy
OMIM:183086	spinocerebellar ataxia type 6
OMIM:183090	Spinocerebellar ataxia 2
OMIM:183100	Spinocerebellar Atrophy With Pupillary Paralysis
OMIM:183300	Splenogonadal Fusion With Limb Defects and Micrognathia
OMIM:183350	Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia and Reduced Circulating T Helper Cells
OMIM:183400	Split Lower 51P
OMIM:183500	Split-Hand and Split-Foot With Hypodontia
OMIM:183600	Split-Hand/Foot Malformation 1
OMIM:183700	Patterson-Stevenson-Fontaine syndrome
OMIM:183800	Karsch-Neugebauer syndrome
OMIM:183802	Split-Hand With Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
OMIM:183840	SPDA2
OMIM:183849	Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
OMIM:183850	Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
OMIM:183900	Spondyloepiphyseal Dysplasia Congenita
OMIM:184000	Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness
OMIM:184095	Spondyloepiphyseal dysplasia Maroteaux type
OMIM:184100	Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
OMIM:184200	Spondylolisthesis
OMIM:184250	Spondyloepimetaphyseal dysplasia Strudwick type
OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type
OMIM:184253	Spondylometaphyseal Dysplasia, Algerian Type
OMIM:184255	Spondylometaphyseal Dysplasia, Corner Fracture Type
OMIM:184260	Spondylometaphyseal Dysplasia With Dentinogenesis Imperfecta
OMIM:184300	Spondylosis, Cervical
OMIM:184400	Sprengel deformity
OMIM:184450	Stuttering, familial persistent 1
OMIM:184460	Stapes ankylosis with broad thumb and toes
OMIM:184500	Sebocystomatosis
OMIM:184510	Steatocystoma Multiplex With Natal Teeth
OMIM:184700	PCOS1
OMIM:184705	Steinfeld Syndrome
OMIM:184800	Sternum, Premature Obliteration of Sutures of
OMIM:184840	Stickler syndrome, type 3
OMIM:184850	Stiff-Person syndrome
OMIM:184900	Stiff Skin Syndrome
OMIM:185000	Stomatocytosis I
OMIM:185020	Cryohydrocytosis
OMIM:185050	Storage Pool Platelet Disease
OMIM:185069	Storm Syndrome
OMIM:185070	Stormorken Syndrome
OMIM:185100	Strabismus, Susceptibility to
OMIM:185120	Stratton-Parker Syndrome
OMIM:185200	Striae Distensae, Familial
OMIM:185300	Sturge-Weber Syndrome
OMIM:185460	Sulfhemoglobinemia, Congenital
OMIM:185480	Suprabulbar Paresis, Congenital
OMIM:185500	Supravalvar aortic stenosis
OMIM:185600	Symphalangism of Toes
OMIM:185650	Symphalangism, C. S. Lewis Type
OMIM:185700	Symphalangism, Distal
OMIM:185750	Symphalangism With Multiple Anomalies of Hands and Feet
OMIM:185800	proximal symphalangism
OMIM:185900	Chromosome 2Q35 Duplication Syndrome
OMIM:186000	Synpolydactyly 1
OMIM:186100	Syndactyly, Type 3
OMIM:186200	Syndactyly, type IV
OMIM:186300	Syndactyly, type V
OMIM:186350	Syndactyly-Polydactyly-Earlobe Syndrome
OMIM:186400	Synostoses, Tarsal, Carpal, and Digital
OMIM:186500	Multiple Synostoses Syndrome 1
OMIM:186550	Brachydactyly-elbow wrist dysplasia syndrome
OMIM:186570	Tarsal carpal coalition syndrome
OMIM:186575	Synovial Chondromatosis, Familial, With Dwarfism
OMIM:186580	Blau syndrome
OMIM:186600	Syringomas, Multiple
OMIM:186700	Syringomyelia, Isolated
OMIM:186750	Talonavicular Coalition
OMIM:186850	Tarsal Coalition
OMIM:187000	Teeth, Odd Shapes of
OMIM:187050	Teeth Present at Birth
OMIM:187100	Teeth, Supernumerary
OMIM:187260	Generalized essential telangiectasia
OMIM:187300	Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber
OMIM:187350	Telecanthus
OMIM:187360	Temporal Arteritis
OMIM:187370	DA10
OMIM:187390	Extensor tendons of finger anomalies
OMIM:187400	spermatic cord torsion
OMIM:187500	Tetralogy of Fallot
OMIM:187501	Tetralogy of Fallot and Glaucoma
OMIM:187510	Tetramelic Monodactyly
OMIM:187550	Thalassemia, Beta+, Silent Allele
OMIM:187600	Thanatophoric dysplasia type 1
OMIM:187601	Thanatophoric dysplasia, type 2
OMIM:187750	Thoracic Dysostosis, Isolated
OMIM:187760	Thoracolaryngopelvic dysplasia
OMIM:187770	Thoracopelvic Dysostosis
OMIM:187800	platelet-type bleeding disorder 16
OMIM:187900	Bleeding Disorder, Platelet-Type, 17
OMIM:187950	Essential thrombocythemia
OMIM:188000	Thrombocytopenia 2
OMIM:188020	Thrombocytopenia, Cyclic
OMIM:188025	Thrombocytopenia, Paris-Trousseau Type
OMIM:188030	Thrombocytopenic Purpura, Autoimmune
OMIM:188050	Thrombophilia
OMIM:188055	Thrombophilia due to activated protein C resistance
OMIM:188100	Thumb Deformity
OMIM:188150	Thumb deformity-alopecia-pigmentation anomaly syndrome
OMIM:188201	Thumb stiffness-brachydactyly-intellectual disability syndrome
OMIM:188400	DiGeorge syndrome
OMIM:188470	Thyroid Cancer, Nonmedullary, 2
OMIM:188550	Thyroid Cancer, Nonmedullary, 1
OMIM:188560	Thyroid Hormone Plasma Membrane Transport Defect
OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant
OMIM:188580	Thyrotoxic Periodic Paralysis, Susceptibility To, 1
OMIM:188700	Blount Disease, Infantile
OMIM:188740	Tibia, Hypoplasia or Aplasia Of, With Polydactyly
OMIM:188800	Tibial Torsion, Bilateral Medial
OMIM:189000	Toe, Fifth, Number of Phalanges 1N
OMIM:189100	Toe, Misshapen
OMIM:189150	Toe, Rotated Fifth
OMIM:189200	Toes, Relative Length of First and Second
OMIM:189230	Toes, Space Between First and Second
OMIM:189490	Malposition of Teeth With or Without Hypodontia/Oligodontia
OMIM:189500	Hypoplastic enamel-onycholysis-hypohidrosis syndrome
OMIM:189600	Torticollis
OMIM:189700	Torus Palatinus and Torus Mandibularis
OMIM:189800	PEE1
OMIM:189960	esophageal atresia/tracheoesophageal fistula
OMIM:189961	Tracheobronchopathia osteochondroplastica
OMIM:190100	GSM1
OMIM:190200	Tremor of Intention, Ataxia, and Lipofuscinosis
OMIM:190300	Tremor, Hereditary Essential, 1
OMIM:190310	Tremor, Nystagmus, and Duodenal Ulcer
OMIM:190320	Tricho-dento-osseous syndrome
OMIM:190330	Trichomegaly
OMIM:190340	FMDF
OMIM:190345	Trichoepitheliomas, Multiple Desmoplastic
OMIM:190350	trichorhinophalangeal syndrome type I
OMIM:190351	Trichorhinophalangeal syndrome type 3
OMIM:190360	Trichodysplasia-xeroderma syndrome
OMIM:190400	trigeminal neuralgia
OMIM:190410	Trigger Thumb
OMIM:190420	Triglyceride Storage Disease, Type 1
OMIM:190430	Triglyceride Storage Disease, Type 2
OMIM:190440	Trigonocephaly 1
OMIM:190500	Triphalangeal Thumb With Double Phalanges
OMIM:190600	Triphalangeal Thumb, Nonopposable
OMIM:190650	Triphalangeal Thumbs and Dislocation of Patella
OMIM:190680	Triphalangeal Thumbs With Brachyectrodactyly
OMIM:190685	Down Syndrome
OMIM:190800	Tristichiasis
OMIM:190900	Tritanopia
OMIM:191000	Trochlea of the Humerus, Aplasia of
OMIM:191100	Tuberous Sclerosis 1
OMIM:191150	Tuftsin Deficiency
OMIM:191200	Tune Deafness
OMIM:191390	inflammatory bowel disease 11
OMIM:191400	Mesomelic dwarfism, Reinhardt-Pfeiffer type
OMIM:191420	Ulna Metaphyseal Dysplasia Syndrome
OMIM:191440	Upper limb mesomelic dysplasia
OMIM:191480	Uncombable hair syndrome
OMIM:191482	Tricho-retino-dento-digital syndrome
OMIM:191500	Undritz Anomaly
OMIM:191520	Upington Disease
OMIM:191530	Urate-Binding Globulin, Decrease 1N
OMIM:191550	Ureter, Bifid or Double
OMIM:191600	ureter cancer
OMIM:191650	Ureterocele
OMIM:191700	Urolithiasis, Uric Acid, Autosomal Dominant
OMIM:191800	Urinary Bladder, Atony of
OMIM:191830	Renal adysplasia
OMIM:191850	Urticaria, Aquagenic
OMIM:191900	Familial amyloid nephropathy with urticaria AND deafness
OMIM:191950	Urticaria, Familial Localized Heat
OMIM:192000	Uterine Anomalies
OMIM:192050	Uterus Bicornis Bicollis With Partial Vaginal Septum and Unilateral Hematocolpos With Ipsilateral Renal Agenesis
OMIM:192100	Uvula, Bifid
OMIM:192200	Varicose Veins
OMIM:192310	Vasculitis, Lymphocytic, Nodular
OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy
OMIM:192350	VATER association
OMIM:192430	Shprintzen syndrome
OMIM:192445	Ventricular Extrasystoles With Syncope, Perodactyly, and Robin Sequence
OMIM:192500	Long QT syndrome 1
OMIM:192600	Cardiomyopathy, Familial Hypertrophic, 1
OMIM:192605	Ventricular Tachycardia, Familial
OMIM:192700	Venular Insufficiency, Systemic
OMIM:192800	Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
OMIM:192900	Vertebral Hypoplasia With Lumbar Kyphosis
OMIM:192950	Vertical talus, congenital
OMIM:193000	VUR1
OMIM:193003	NYS4
OMIM:193005	Vestibulocochlear Dysfunction, Progressive
OMIM:193007	BRV
OMIM:193050	Vibratory Angioedema
OMIM:193090	Protein R deficiency
OMIM:193100	Hypophosphatemic Rickets, Autosomal Dominant
OMIM:193200	vitiligo
OMIM:193220	Autosomal dominant vitreoretinochoroidopathy
OMIM:193230	Vitreoretinal Degeneration, Snowflake Type
OMIM:193235	Vitreoretinopathy, Neovascular Inflammatory
OMIM:193240	Vocal Cord Paralysis and Ptosis
OMIM:193250	Volvulus of Midgut
OMIM:193300	Von Hippel-Lindau Syndrome
OMIM:193400	von Willebrand disease type 1
OMIM:193450	Vulvovaginitis, Allergic Seminal
OMIM:193500	Waardenburg Syndrome, Type 1
OMIM:193510	Waardenburg Syndrome, Type 2A
OMIM:193520	Watson Syndrome
OMIM:193530	Curry-Hall syndrome
OMIM:193670	WHIM syndrome
OMIM:193700	Arthrogryposis, Distal, Type 2A
OMIM:193900	White Sponge Nevus 1
OMIM:194000	Widow'S Peak
OMIM:194050	Williams-Beuren syndrome
OMIM:194070	nephroblastoma
OMIM:194071	Wilms tumor 2
OMIM:194072	WAGR syndrome
OMIM:194080	Denys-Drash syndrome
OMIM:194090	WT3
OMIM:194190	Wolf-Hirschhorn Syndrome
OMIM:194200	Wolff-Parkinson-White Syndrome
OMIM:194300	Woolly hair, autosomal dominant
OMIM:194320	Woronets Trait
OMIM:194350	Wt Limb-Blood Syndrome
OMIM:194380	Dehydrated Hereditary Stomatocytosis 1 With or Without Pseudohyperkalemia And/Or Perinatal Edema
OMIM:194400	Xeroderma Pigmentosum, Autosomal Dominant, Mild
OMIM:194470	Zinc, Elevated Plasma
OMIM:200100	Abetalipoproteinemia
OMIM:200110	Ablepharon-Macrostomia Syndrome
OMIM:200130	Absent Eyebrows and Eyelashes With Mental Retardation
OMIM:200150	Choreoacanthocytosis
OMIM:200170	Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
OMIM:200300	Acetophenetidin Sensitivity
OMIM:200400	Achalasia, Familial Esophageal
OMIM:200450	Achalasia-Microcephaly Syndrome
OMIM:200500	acheiropody
OMIM:200600	achondrogenesis type IA
OMIM:200610	Achondrogenesis, type II
OMIM:200700	Chondrodysplasia, Grebe Type
OMIM:200900	Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
OMIM:200950	Acid Phosphatase Deficiency
OMIM:200970	Ackerman Syndrome
OMIM:200980	Acro-renal-mandibular syndrome
OMIM:200990	acrocallosal syndrome
OMIM:200995	Acrocephalopolydactylous Dysplasia
OMIM:201000	Carpenter syndrome 1
OMIM:201020	Acrocephalopolysyndactyly Type 4
OMIM:201050	Acrocraniofacial dysostosis
OMIM:201100	Hereditary acrodermatitis enteropathica
OMIM:201170	Acrofacial Dysostosis Syndrome of Rodriguez
OMIM:201180	Acro-fronto-facio-nasal dysostosis
OMIM:201200	Acrogeria
OMIM:201250	Acromesomelic Dysplasia, Hunter-Thompson Type
OMIM:201300	sensory peripheral neuropathy
OMIM:201310	Acrorenal Syndrome, Autosomal Recessive
OMIM:201400	Acth Deficiency, Isolated
OMIM:201450	Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of
OMIM:201470	Deficiency of butyryl-CoA dehydrogenase
OMIM:201475	Very long chain acyl-CoA dehydrogenase deficiency
OMIM:201550	Adducted Thumbs Syndrome
OMIM:201710	Cholesterol monooxygenase (side-chain cleaving) deficiency
OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
OMIM:201810	Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
OMIM:201910	21-hydroxylase deficiency
OMIM:202010	Deficiency of steroid 11-beta-monooxygenase
OMIM:202110	Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency
OMIM:202150	Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
OMIM:202155	Adrenal Hypoplasia, Cytomegalic Type
OMIM:202200	Familial glucocorticoid deficiency
OMIM:202300	Adrenocortical Carcinoma, Hereditary
OMIM:202355	Adrenocortical Unresponsiveness to Acth With Postreceptor Defect
OMIM:202370	Neonatal adrenoleucodystrophy
OMIM:202400	Afibrinogenemia, congenital
OMIM:202550	Aganglionosis, Total Intestinal
OMIM:202600	Agenesis of Cerebral White Matter
OMIM:202650	Dysgnathia complex
OMIM:202660	Pagod Syndrome
OMIM:202700	Autosomal dominant severe congenital neutropenia
OMIM:202900	Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
OMIM:203000	Frontonasal Dysplasia With Alar Clefts
OMIM:203100	Oculocutaneous albinism type 1A
OMIM:203200	Albinism, Oculocutaneous, Type 2
OMIM:203290	Albinism, Oculocutaneous, Type 3
OMIM:203300	Hermansky-Pudlak Syndrome 1
OMIM:203330	Pseudohypoparathyroidism type 2
OMIM:203340	Albinism-Microcephaly-Digital Anomalies Syndrome
OMIM:203400	Corticosterone methyloxidase type 1 deficiency
OMIM:203450	Alexander Disease
OMIM:203500	Alkaptonuria
OMIM:203550	Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
OMIM:203600	Moynahan syndrome
OMIM:203650	APMR1
OMIM:203655	Alopecia Universalis Congenita
OMIM:203700	Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
OMIM:203740	Alpha-Ketoglutarate Dehydrogenase Deficiency
OMIM:203750	Alpha-Methylacetoacetic Aciduria
OMIM:203760	Alpha-2-Deficient Collagen Disease
OMIM:203780	autosomal recessive Alport syndrome
OMIM:203800	Alstrom syndrome
OMIM:204000	Leber Congenital Amaurosis 1
OMIM:204100	Leber congenital amaurosis 2
OMIM:204110	Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis
OMIM:204200	neuronal ceroid lipofuscinosis 3
OMIM:204300	Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive
OMIM:204500	neuronal ceroid lipofuscinosis 2
OMIM:204650	Amelogenesis imperfecta, type IC
OMIM:204690	amelogenesis imperfecta type 1G
OMIM:204700	Amelogenesis Imperfecta, Hypomaturation Type, Iia1
OMIM:204730	Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
OMIM:204750	2-Aminoadipic 2-Oxoadipic Aciduria
OMIM:204800	Amobarbital, Deficient N-Hydroxylation of
OMIM:204850	Amyloidosis of Gingiva and Conjunctiva, With Mental Retardation
OMIM:204870	Lattice corneal dystrophy Type III
OMIM:204900	Amyloidosis, Cutaneous Bullous
OMIM:205000	Amyotonia Congenita
OMIM:205100	Amyotrophic Lateral Sclerosis 2, Juvenile
OMIM:205200	Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
OMIM:205250	Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
OMIM:205400	Tangier Disease
OMIM:205700	autoimmune hemolytic anemia
OMIM:205950	pyridoxine-refractory autosomal recessive sideroblastic anemia
OMIM:206000	Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
OMIM:206100	Anemia, Hypochromic Microcytic, With Iron Overload 1
OMIM:206200	IRIDA syndrome
OMIM:206300	Anemia, Nonspherocytic Hemolytic, Associated With Abnormality of Red Cell Membrane
OMIM:206400	Anemia, Nonspherocytic Hemolytic, Possibly Due to Defect 1N Porphyrin Metabolism
OMIM:206500	Anencephaly
OMIM:206550	Familial angiolipomatosis
OMIM:206570	Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert
OMIM:206600	Anhidrosis, Familial Generalized, With Abnormal or Absent Sweat Glands
OMIM:206700	Gillespie Syndrome
OMIM:206750	Aniridia, Partial, With Unilateral Renal Agenesis and Psychomotor Retardation
OMIM:206780	Anodontia of Permanent Dentition
OMIM:206800	nonsyndromic congenital nail disorder 4
OMIM:206900	Microphthalmia, Syndromic 3
OMIM:206920	Anophthalmos with limb anomalies
OMIM:207000	Anosmia for Isobutyric Acid
OMIM:207300	Antithrombin, Familial Hemorrhagic Diathesis Due to
OMIM:207410	Antley-Bixler syndrome
OMIM:207500	Anus, Imperforate
OMIM:207600	Takayasu's arteritis
OMIM:207620	Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
OMIM:207720	Apnea, Central Sleep
OMIM:207731	Aplasia cutis congenita-intestinal lymphangiectasia syndrome
OMIM:207740	Polyneuropathy-hand defect syndrome
OMIM:207750	Familial apolipoprotein C-II deficiency
OMIM:207770	XK aprosencephaly
OMIM:207780	AREDYLD syndrome
OMIM:207790	Arachnoid Cysts, Intracranial
OMIM:207800	hyperargininemia
OMIM:207900	Argininosuccinate lyase deficiency
OMIM:207950	Arnold-Chiari malformation type II
OMIM:208000	Arterial Calcification, Generalized, of Infancy, 1
OMIM:208050	Arterial tortuosity syndrome
OMIM:208060	Arteriosclerosis, Severe Juvenile
OMIM:208080	Arthrogryposis, Distal, With Hypopituitarism, Mental Retardation, and Facial Anomalies
OMIM:208081	Arthrogryposis, Distal, With Mental Retardation and Characteristic Facies
OMIM:208085	Arthrogryposis renal dysfunction cholestasis syndrome
OMIM:208100	Neurogenic arthrogryposis multiplex congenita
OMIM:208150	Fetal akinesia deformation sequence
OMIM:208155	Arthrogryposis multiplex congenita-whistling face syndrome
OMIM:208158	Arthrogryposis-hyperkeratosis syndrome, lethal form
OMIM:208230	Arthropathy, Progressive Pseudorheumatoid, of Childhood
OMIM:208250	Camptodactyly arthropathy coxa vara pericarditis syndrome
OMIM:208300	Ascites, Chylous
OMIM:208400	aspartylglucosaminuria
OMIM:208500	asphyxiating thoracic dystrophy 1
OMIM:208530	right atrial isomerism
OMIM:208540	Renal-Hepatic-Pancreatic Dysplasia 1
OMIM:208550	Asthma, Nasal Polyps, and Aspirin Intolerance
OMIM:208600	Asthma, Short Stature, and Elevated Iga
OMIM:208700	Ataxia With Myoclonic Epilepsy and Presenile Dementia
OMIM:208750	Ataxia, Deafness, and Cardiomyopathy
OMIM:208850	Ataxia-deafness-intellectual disability syndrome
OMIM:208870	Ataxia-Microcephaly-Cataract Syndrome
OMIM:208900	ataxia telangiectasia
OMIM:208910	Ataxia-Telangiectasia With Generalized Skin Pigmentation and Early Death
OMIM:208920	Adult onset ataxia with oculomotor apraxia
OMIM:209010	Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
OMIM:209050	Athrombia, Essential
OMIM:209100	Atonic-Astatic Syndrome of Foerster
OMIM:209300	Atransferrinemia
OMIM:209500	atrichia with papular lesions
OMIM:209600	Atrioventricular Dissociation
OMIM:209700	Atrophoderma vermiculata
OMIM:209770	Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
OMIM:209850	Autism
OMIM:209880	congenital central hypoventilation syndrome
OMIM:209885	Barber-Say syndrome
OMIM:209900	Bardet-Biedl syndrome 1
OMIM:209920	Bare Lymphocyte Syndrome, Type 2
OMIM:209950	Disseminated atypical mycobacterial infection
OMIM:209970	Beemer-Ertbruggen syndrome
OMIM:210000	Behr syndrome
OMIM:210050	Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification
OMIM:210100	Beta-Aminoisobutyric Acid, Urinary Excretion of
OMIM:210200	3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
OMIM:210210	3-methylcrotonyl CoA carboxylase 2 deficiency
OMIM:210250	Sitosterolemia
OMIM:210350	Biemond syndrome type 2
OMIM:210370	Bietti crystalline corneoretinal dystrophy
OMIM:210400	Bifid Nose, Autosomal Recessive
OMIM:210500	biliary atresia
OMIM:210550	Biliary Malformation With Renal Tubular Insufficiency
OMIM:210600	Seckel syndrome 1
OMIM:210700	Microcephalic Primordial Dwarfism, Montreal Type
OMIM:210710	Microcephalic Osteodysplastic Primordial Dwarfism, Type 1
OMIM:210720	Microcephalic osteodysplastic primordial dwarfism type 2
OMIM:210730	Microcephalic Osteodysplastic Primordial Dwarfism, Type 3
OMIM:210740	Bangstad Syndrome
OMIM:210745	Blepharophimosis With Ptosis, Syndactyly, and Short Stature
OMIM:210900	Bloom syndrome
OMIM:211000	Blue diaper syndrome
OMIM:211120	Bone Dysplasia, Lethal, Holmgren Type
OMIM:211180	Bowen-Conradi Syndrome
OMIM:211200	Bowen Syndrome of Multiple Malformations
OMIM:211350	Kyphomelic dysplasia
OMIM:211355	Congenital bowing of long bones
OMIM:211369	Brachydactyly, Type A2, With Microcephaly
OMIM:211370	Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
OMIM:211380	Branchio-skeleto-genital syndrome
OMIM:211390	Sabinas Brittle Hair Syndrome
OMIM:211400	Bronchiectasis With or Without Elevated Sweat Chloride 1
OMIM:211450	Bronchomalacia
OMIM:211480	Buerger Disease
OMIM:211500	Fazio-Londe Disease
OMIM:211530	Brown-Vialetto-Van Laere Syndrome 1
OMIM:211600	Progressive intrahepatic cholestasis
OMIM:211750	C syndrome
OMIM:211770	Cahmr Syndrome
OMIM:211800	Calcification of joints and arteries
OMIM:211890	Campomelia, Cumming Type
OMIM:211900	Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
OMIM:211910	Camptodactyly Syndrome, Guadalajara, Type 1
OMIM:211920	Camptodactyly Syndrome, Guadalajara, Type 2
OMIM:211930	Camptodactyly With Fibrous Tissue Hyperplasia and Skeletal Dysplasia
OMIM:211960	Tel Hashomer camptodactyly syndrome
OMIM:211980	Lung Cancer
OMIM:211990	Camptomelic Syndrome, Long-Limb Type
OMIM:212050	Candidiasis, familial, 2
OMIM:212060	Carbimazole Sensitivity
OMIM:212065	Congenital Disorder of Glycosylation, Type Ia
OMIM:212066	Congenital Disorder of Glycosylation, Type Iia
OMIM:212067	Congenital Disorder of Glycosylation, Type I/Iix
OMIM:212070	Carboxypeptidase N Deficiency
OMIM:212080	Cardiac Lipidosis, Familial
OMIM:212090	Cardiac Septal Defects With Coarctation of the Aorta
OMIM:212093	Cardiac Valvular Defect, Developmental
OMIM:212100	Cardioauditory Syndrome of Sanchez Cascos
OMIM:212112	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
OMIM:212130	Cardiomyopathy Associated With Myopathy and Sudden Death
OMIM:212135	Heart defects-limb shortening syndrome
OMIM:212138	Carnitine acylcarnitine translocase deficiency
OMIM:212140	Renal carnitine transport defect
OMIM:212160	Carnitine Deficiency, Myopathic
OMIM:212200	Carnosinemia
OMIM:212350	Sengers syndrome
OMIM:212360	Palmoplantar Keratoderma and Congenital Alopecia 2
OMIM:212400	Congenital cataract-ichthyosis syndrome
OMIM:212500	Cataract Hutterite type
OMIM:212540	COFS syndrome
OMIM:212550	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
OMIM:212710	Cataract-ataxia-deafness syndrome
OMIM:212720	Martsolf syndrome
OMIM:212750	Celiac Disease, Susceptibility To, 1
OMIM:212780	Cenani-Lenz syndactyly syndrome
OMIM:212790	PCD
OMIM:212800	Cephalin Lipidosis
OMIM:212835	Cerebellar Ataxia and Ectodermal Dysplasia
OMIM:212840	Gordon Holmes Syndrome
OMIM:212850	Cerebellar Ataxia and Neurosensory Deafness
OMIM:212890	Cerebellar Ataxia, Benign, With Thermoanalgesia
OMIM:213000	Isolated cerebellar hypoplasia/agenesis
OMIM:213002	Cerebellar Hypoplasia With Endosteal Sclerosis
OMIM:213010	Hepatic fibrosis-renal cysts-intellectual disability syndrome
OMIM:213100	CPD2
OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2
OMIM:213300	Joubert syndrome 1
OMIM:213400	myoclonic cerebellar dyssynergia
OMIM:213500	Cerebral Angiopathy, Dysphoric
OMIM:213600	Basal Ganglia Calcification, Idiopathic, 1
OMIM:213700	Cerebrotendinous Xanthomatosis
OMIM:213900	Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease
OMIM:213950	Cerebrocortical Degeneration of Infancy
OMIM:213980	Cerebro-facio-thoracic dysplasia
OMIM:214100	Peroxisome Biogenesis Disorder 1A (Zellweger)
OMIM:214110	Peroxisome biogenesis disorder 2a (zellweger)
OMIM:214150	Cerebro-oculo-facio-skeletal syndrome
OMIM:214200	Ceroid Storage Disease
OMIM:214290	Cervical Vertebrae, Agenesis of
OMIM:214300	Klippel-Feil syndrome 2, autosomal recessive
OMIM:214350	Chand Syndrome
OMIM:214370	Neuropathy, Hereditary Motor and Sensory, With Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers
OMIM:214400	Charcot-Marie-Tooth Disease, Type 4A
OMIM:214450	Griscelli syndrome type 1
OMIM:214500	Chediak-Higashi syndrome
OMIM:214700	Diarrhea 1, Secretory Chloride, Congenital
OMIM:214800	CHARGE association
OMIM:214900	Aagenaes syndrome
OMIM:214950	Congenital bile acid synthesis defect type 4
OMIM:214980	Cholestasis With Gallstone, Ataxia, and Visual Disturbance
OMIM:215030	Cholesterol Pneumonia
OMIM:215045	Chondrodysplasia Blomstrand type
OMIM:215050	Chondrodysplasia Calcificans Metaphysealis
OMIM:215100	Rhizomelic Chondrodysplasia Punctata, Type 1
OMIM:215140	Greenberg Dysplasia
OMIM:215150	Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
OMIM:215250	Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
OMIM:215300	Chondrosarcoma
OMIM:215400	Chordoma, Susceptibility to
OMIM:215450	Chorea, Benign Familial
OMIM:215470	Boucher Neuhauser syndrome
OMIM:215480	Choroid Plexus Calcification and Mental Retardation
OMIM:215500	partial central choroid dystrophy
OMIM:215510	Chromosomal Instability With Tissue-Specific Radiosensitivity
OMIM:215518	Ciliary Discoordination Due to Random Ciliary Orientation
OMIM:215520	Ciliary Dyskinesia With Transposition of Ciliary Microtubules
OMIM:215550	Circumvallate Placenta Syndrome
OMIM:215600	Cirrhosis, Familial
OMIM:215700	Citrullinemia type I
OMIM:215720	Citrulline Transport Defect
OMIM:215800	Cleft Larynx, Posterior
OMIM:215850	Cleft-Limb-Heart Malformation Syndrome
OMIM:216100	Juberg-Hayward syndrome
OMIM:216300	Cleft Palate, Deafness, and Oligodontia
OMIM:216330	Cleidocranial Dysplasia, Recessive Form
OMIM:216340	Yunis Varon syndrome
OMIM:216360	Coach Syndrome
OMIM:216400	Cockayne Syndrome a
OMIM:216411	Moved to 216400
OMIM:216550	Cohen Syndrome
OMIM:216700	RPC
OMIM:216800	Macular coloboma-cleft palate-hallux valgus syndrome
OMIM:216820	Ocular coloboma, autosomal recessive
OMIM:216900	Achromatopsia 2
OMIM:216920	Combined Inflammatory and Immunologic Defect
OMIM:216950	Complement Component C1R/C1S Deficiency
OMIM:217000	Complement component 2 deficiency
OMIM:217080	Jalili Syndrome
OMIM:217085	Orstavik Lindemann Solberg syndrome
OMIM:217090	Hypoplasminogenemia
OMIM:217095	Conotruncal Heart Malformations
OMIM:217100	Constricting Bands, Congenital
OMIM:217150	Malignant hyperthermia-arthrogryposis-torticollis syndrome
OMIM:217200	Convulsive Disorder, Familial, With Prenatal or Early Onset
OMIM:217300	Cornea Plana 2, Autosomal Recessive
OMIM:217400	Corneal dystrophy and perceptive deafness
OMIM:217500	Corneal Dystrophy, Band-Shaped
OMIM:217520	Corneal Degeneration, Band-Shaped Spheroid
OMIM:217600	Central Cloudy Dystrophy of Francois
OMIM:217700	Corneal Endothelial Dystrophy
OMIM:217800	macular corneal dystrophy
OMIM:217980	Toriello-Carey syndrome
OMIM:217990	Corpus Callosum, Agenesis of
OMIM:218000	hereditary motor and sensory neuropathy with agenesis of the corpus callosum
OMIM:218010	Cortical Blindness, Retardation, and Postaxial Polydactyly
OMIM:218030	Apparent Mineralocorticoid Excess
OMIM:218040	Costello Syndrome
OMIM:218050	Cramps, Familial Adolescent
OMIM:218090	Crane-Heise syndrome
OMIM:218100	Cranial Nerves, Congenital Paresis of
OMIM:218200	Cranial Nerves, Recurrent Paresis of
OMIM:218300	Craniodiaphyseal Dysplasia
OMIM:218330	Cranioectodermal Dysplasia 1
OMIM:218340	Temtamy Syndrome
OMIM:218350	Craniofacial dyssynostosis
OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive type
OMIM:218450	Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis
OMIM:218530	Craniosynostosis With Anomalies of the Cranial Base and Digits
OMIM:218550	Craniosynostosis-fibular aplasia syndrome
OMIM:218600	Baller-Gerold syndrome
OMIM:218649	Craniosynostosis-Mental Retardation Syndrome of 51N and Gettig
OMIM:218650	Craniosynostosis-Mental Retardation-Clefting Syndrome
OMIM:218670	Craniotelencephalic Dysplasia
OMIM:218700	Hypothyroidism, Congenital, Nongoitrous, 2
OMIM:218800	Crigler-Najjar syndrome
OMIM:218900	Crome Syndrome
OMIM:219000	Fraser syndrome
OMIM:219050	Cryptorchidism, unilateral or bilateral
OMIM:219070	Curved Nail of Fourth Toe
OMIM:219080	Cushing syndrome due to macronodular adrenal hyperplasia
OMIM:219090	ACTH-secreting pituitary adenoma
OMIM:219095	Cutaneous photosensitivity-lethal colitis syndrome
OMIM:219100	Cutis Laxa, Autosomal Recessive, Type 1A
OMIM:219150	ALDH18A1-related De Barsy syndrome
OMIM:219200	Autosomal recessive cutis laxa type 2, classic type
OMIM:219250	Cutis marmorata telangiectatica congenita
OMIM:219300	Cutis Verticis Gyrata and Mental Retardation
OMIM:219400	Cyanosis and Hepatic Disease
OMIM:219500	Cystathioninuria
OMIM:219550	Cysteine Peptiduria
OMIM:219600	Cystic Disease of Lung
OMIM:219700	Cystic Fibrosis
OMIM:219721	Cystic fibrosis-gastritis-megaloblastic anemia syndrome
OMIM:219730	Ventriculomegaly With Cystic Kidney Disease
OMIM:219750	Ocular cystinosis
OMIM:219800	Nephropathic cystinosis
OMIM:219900	Juvenile nephropathic cystinosis
OMIM:220100	cystinuria
OMIM:220110	cytochrome-c oxidase deficiency disease
OMIM:220111	Leigh syndrome, French Canadian type
OMIM:220120	D-glyceric aciduria
OMIM:220150	Familial renal hypouricemia
OMIM:220200	DWS
OMIM:220210	Dandy-Walker like malformation with atrioventricular septal defect
OMIM:220219	Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy
OMIM:220220	Dandy-Walker Malformation With Postaxial Polydactyly
OMIM:220290	autosomal recessive nonsyndromic deafness 1A
OMIM:220300	Deafness, Congenital, and Familial Myoclonic Epilepsy
OMIM:220400	Jervell and Lange-Nielsen syndrome 1
OMIM:220500	DOORS syndrome
OMIM:220600	Split-hand/foot malformation 1 with sensorineural hearing loss
OMIM:220900	Deafness, Congenital, With Total Albinism
OMIM:221200	High myopia-sensorineural deafness syndrome
OMIM:221300	Deafness, Conductive, With Malformed External Ear
OMIM:221320	Deafness, Conductive, With Ptosis and Skeletal Anomalies
OMIM:221350	Deafness-vitiligo-achalasia syndrome
OMIM:221400	Deafness-small bowel diverticulosis-neuropathy syndrome
OMIM:221500	Deafness, Neural, Congenital Moderate
OMIM:221700	Deafness, Neural, With Atypical Atopic Dermatitis
OMIM:221740	Deafness-Oligodontia Syndrome
OMIM:221745	Deafness, Sensorineural, Autosomal-Mitochondrial Type
OMIM:221750	Non-acquired combined pituitary hormone deficiency with spine abnormalities
OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
OMIM:221790	Dermatoleukodystrophy
OMIM:221800	Dermochondrocorneal dystrophy
OMIM:221810	Dermatoosteolysis, Kirghizian type
OMIM:221820	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
OMIM:221900	Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
OMIM:221950	Dextrocardia With Unusual Facies and Microphthalmia
OMIM:221995	Diabetes Insipidus, Nephrogenic, With Mental Retardation and Intracerebral Calcification
OMIM:222100	IDDM
OMIM:222300	Wolfram Syndrome 1
OMIM:222350	Diaminopentanuria
OMIM:222400	DIH2
OMIM:222448	Donnai-Barrow Syndrome
OMIM:222470	Trichohepatoenteric syndrome 1
OMIM:222500	Diastematomyelia
OMIM:222600	Diastrophic Dysplasia
OMIM:222690	Hyperdibasic aminoaciduria type 1
OMIM:222700	Lysinuric protein intolerance
OMIM:222730	Dicarboxylic aminoaciduria
OMIM:222748	Dihydropyrimidinuria
OMIM:222765	Rhizomelic Chondrodysplasia Punctata, Type 2
OMIM:222800	Hemolytic anemia due to diphosphoglycerate mutase deficiency
OMIM:222900	Sucrase-Isomaltase Deficiency, Congenital
OMIM:223000	Congenital lactase deficiency
OMIM:223100	Lactose Intolerance, Adult Type
OMIM:223200	Disorganization, Mouse, Homolog of
OMIM:223300	Disseminated Sclerosis With Narcolepsy
OMIM:223320	Diverticulosis, Small-Intestinal
OMIM:223330	Marfanoid syndrome, De Silva type
OMIM:223340	Dk Phocomelia Syndrome
OMIM:223350	Dohle Bodies and Leukemia
OMIM:223360	Dopamine beta-hydroxylase deficiency
OMIM:223370	Dubowitz syndrome
OMIM:223380	Dopamine Beta-Hydroxylase, Plasma, Thermolability of
OMIM:223400	Duodenal atresia
OMIM:223500	Dwarfism, Low-Birth-Weight Type, With Unresponsiveness to Growth Hormone
OMIM:223540	Dwarfism, Mental Retardation, and Eye Abnormality
OMIM:223550	Dwarfism, Proportionate, With Hip Dislocation
OMIM:223800	Dyggve-Melchior-Clausen syndrome
OMIM:223900	Familial dysautonomia
OMIM:224000	Dysautonomia-Like Disorder
OMIM:224050	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1
OMIM:224100	Congenital dyserythropoietic anemia, type II
OMIM:224120	Anemia, Congenital Dyserythropoietic, Type Ia
OMIM:224230	Dyskeratosis congenita autosomal recessive 1
OMIM:224250	Dysmyelination With Jaundice
OMIM:224300	Dysosteosclerosis
OMIM:224400	Dyssegmental dysplasia, Rolland-Desbuquois type
OMIM:224410	Silverman-Handmaker type dyssegmental dysplasia
OMIM:224500	Dystonia 2, torsion, autosomal recessive
OMIM:224550	Dystonia With Ringbinden
OMIM:224690	Meier-Gorlin syndrome 1
OMIM:224700	Ebstein anomaly
OMIM:224750	Schopf-Schulz-Passarge syndrome
OMIM:224800	Ectodermal dysplasia-sensorineural deafness syndrome
OMIM:224900	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
OMIM:225000	Rosselli-Gulienetti Syndrome
OMIM:225040	Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism and Agenesis of the Corpus Callosum
OMIM:225050	Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism and Ciliary Dyskinesia
OMIM:225060	Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
OMIM:225100	Ectopia lentis, isolated autosomal recessive
OMIM:225200	Ectopia lentis et pupillae
OMIM:225250	Hypothyroidism, congenital, nongoitrous, 5
OMIM:225280	EEM syndrome
OMIM:225290	Ectrodactyly-Polydactyly
OMIM:225300	Split-hand/foot malformation 6
OMIM:225310	Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
OMIM:225320	Ehlers-Danlos syndrome, cardiac valvular type
OMIM:225400	Ehlers-Danlos syndrome, hydroxylysine-deficient
OMIM:225410	Ehlers-Danlos syndrome, dermatosparaxis type
OMIM:225500	Ellis-Van Creveld syndrome
OMIM:225700	Encephalomalacia, Multilocular
OMIM:225740	Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, and Cataracts
OMIM:225750	Aicardi Goutieres syndrome 1
OMIM:225753	pontocerebellar hypoplasia type 4
OMIM:225755	Bonnemann-Meinecke-Reich syndrome
OMIM:225790	Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome
OMIM:226000	endocardial fibroelastosis
OMIM:226100	Endocardial Fibroelastosis and Coarctation of Abdominal Aorta
OMIM:226150	Enterocolitis
OMIM:226200	Enterokinase Deficiency
OMIM:226300	Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy
OMIM:226350	Eosinophilic fasciitis
OMIM:226400	Epidermodysplasia Verruciformis
OMIM:226440	Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
OMIM:226500	Epidermolysis Bullosa Dystrophica Neurotrophica
OMIM:226600	Recessive dystrophic epidermolysis bullosa
OMIM:226650	Adult junctional epidermolysis bullosa
OMIM:226670	Epidermolysa bullosa simplex and limb girdle muscular dystrophy
OMIM:226700	junctional epidermolysis bullosa Herlitz type
OMIM:226730	Epidermolysis Bullosa Junctionalis With Pyloric Atresia
OMIM:226735	Epidermolysis Bullosa With Diaphragmatic Hernia
OMIM:226750	Kohlschutter-Tonz Syndrome
OMIM:226800	Epilepsy, Photogenic, With Spastic Diplegia and Mental Retardation
OMIM:226810	Epilepsy With Bilateral Occipital Calcifications
OMIM:226850	Epilepsy telangiectasia
OMIM:226900	Epiphyseal Dysplasia, Multiple, 4
OMIM:226950	Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
OMIM:226960	Epiphyseal Dysplasia, Microcephaly, and Nystagmus
OMIM:226980	Wolcott-Rallison dysplasia
OMIM:226990	Chronic Epstein-Barr virus infection syndrome
OMIM:227000	Erythema of Acral Regions
OMIM:227010	Ermine phenotype
OMIM:227050	Transient erythroblastopenia of childhood
OMIM:227090	Erythroderma, Lethal Congenital
OMIM:227150	Ethanolaminosis
OMIM:227210	Eyebrows, Duplication Of, With Stretchable Skin and Syndactyly
OMIM:227250	Facial Abnormalities, Kyphoscoliosis, and Mental Retardation
OMIM:227255	Facial Dysmorphism With Multiple Malformations
OMIM:227260	Congenital ectodermal dysplasia of face
OMIM:227270	Lethal faciocardiomelic dysplasia
OMIM:227280	Faciocardiorenal Syndrome
OMIM:227300	Combined deficiency of factor V and factor VIII, 1
OMIM:227310	Factor 5 and Factor Viii, Combined Deficiency Of, With Normal Protein C and Protein C Inhibitor
OMIM:227320	Faciothoracogenital Syndrome
OMIM:227330	Autosomal recessive facio-digito-genital syndrome
OMIM:227400	Factor V deficiency
OMIM:227500	factor VII deficiency
OMIM:227600	Factor 10 Deficiency
OMIM:227645	Fanconi anemia, complementation group C
OMIM:227646	Fanconi Anemia, Complementation Group D2
OMIM:227650	Fanconi Anemia, Complementation Group a
OMIM:227810	Fanconi-Bickel syndrome
OMIM:227850	Fanconi-Like Syndrome
OMIM:228000	Farber's lipogranulomatosis
OMIM:228020	Fascial Dystrophy, Congenital
OMIM:228100	Visceral Steatosis, Congenital
OMIM:228200	Femur-Fibula-Ulna Syndrome
OMIM:228250	Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
OMIM:228300	hypogonadotropic hypogonadism 23 with or without anosmia
OMIM:228355	Fetal Iodine Deficiency Disorder
OMIM:228400	Fever, Familial Lifelong Persistent
OMIM:228520	Fibrochondrogenesis 1
OMIM:228550	Infantile myofibromatosis 1
OMIM:228560	Fibromatosis, Gingival, With Distinctive Facies
OMIM:228600	Hyaline fibromatosis syndrome
OMIM:228800	Fibrosclerosis, Multifocal
OMIM:228900	Fibular hypoplasia and complex brachydactyly
OMIM:228930	Fuhrmann syndrome
OMIM:228940	Fibuloulnar Aplasia or Hypoplasia With Renal Abnormalities
OMIM:228960	Congenital high-molecular-weight kininogen deficiency
OMIM:228980	Familial benign flecked retina
OMIM:228990	Fleck Retina of Kandori
OMIM:229045	Focal Epithelial Hyperplasia, Oral
OMIM:229050	Congenital defect of folate absorption
OMIM:229070	Follicle-stimulating hormone deficiency, isolated
OMIM:229100	Glutamate Formiminotransferase Deficiency
OMIM:229120	Fountain Syndrome
OMIM:229200	Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
OMIM:229230	Fraser-Like Syndrome
OMIM:229250	Freesia Flowers, Inability to Smell
OMIM:229300	Friedreich Ataxia 1
OMIM:229310	Friedreich Ataxia and Congenital Glaucoma
OMIM:229400	Frontofacionasal Dysplasia
OMIM:229500	Fructose and Galactose Intolerance
OMIM:229600	hereditary fructose intolerance syndrome
OMIM:229700	fructose-1,6-bisphosphatase deficiency
OMIM:229800	Fructosuria, Essential
OMIM:229850	FRNS
OMIM:230000	Fucosidosis
OMIM:230200	Galactokinase Deficiency
OMIM:230300	Galactorrhea
OMIM:230350	Galactose epimerase deficiency
OMIM:230400	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
OMIM:230450	Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to
OMIM:230500	Gm1-Gangliosidosis, Type 1
OMIM:230600	Gm1-Gangliosidosis, Type 2
OMIM:230650	GM1 gangliosidosis type 3
OMIM:230740	Gapo Syndrome
OMIM:230750	Gastroschisis
OMIM:230800	Gaucher Disease, Type 1
OMIM:230900	Gaucher Disease, Type 2
OMIM:231000	Gaucher Disease, Type 3
OMIM:231005	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
OMIM:231050	Geleophysic Dysplasia 1
OMIM:231060	Genito-palato-cardiac syndrome
OMIM:231070	Geroderma Osteodysplasticum
OMIM:231080	German Syndrome
OMIM:231090	Hydatidiform Mole, Recurrent, 1
OMIM:231095	Ghosal hematodiaphyseal dysplasia
OMIM:231100	Hemochromatosis, Neonatal
OMIM:231200	Bernard Soulier syndrome
OMIM:231300	buphthalmos
OMIM:231530	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
OMIM:231550	triple-A syndrome
OMIM:231630	Monosodium Glutamate Sensitivity
OMIM:231670	Glutaryl-CoA dehydrogenase deficiency
OMIM:231680	multiple acyl-CoA dehydrogenase deficiency
OMIM:231690	Glutaric Aciduria 3
OMIM:231900	Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to
OMIM:231950	Glutathionuria
OMIM:231970	Gluteal Muscles, Absence of
OMIM:232200	Glycogen storage disease type 1A
OMIM:232220	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
OMIM:232240	Phosphate transport defect
OMIM:232300	Glycogen Storage Disease 2
OMIM:232400	Glycogen Storage Disease 3
OMIM:232500	Glycogen Storage Disease 4
OMIM:232600	glycogen storage disease V
OMIM:232700	Glycogen Storage Disease 6
OMIM:232800	Glycogen Storage Disease 7
OMIM:232900	Glycoprotein Storage Disease
OMIM:233100	Familial renal glucosuria
OMIM:233270	Gombo Syndrome
OMIM:233300	Ovarian Dysgenesis 1
OMIM:233400	Perrault Syndrome 1
OMIM:233420	46,XY sex reversal, type 7
OMIM:233430	XY type gonadal dysgenesis-associated anomalies syndrome
OMIM:233450	Goodpasture syndrome
OMIM:233500	Gorlin-Chaudhry-Moss syndrome
OMIM:233600	Granulocytopenia With Immunoglobulin Abnormality
OMIM:233650	Combined immunodeficiency with skin granulomas
OMIM:233670	Granulomatous Disease With Defect 1N Neutrophil Chemotaxis
OMIM:233690	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
OMIM:233700	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1
OMIM:233710	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
OMIM:233800	Grouped Pigmentation of the Retina
OMIM:233805	Growth Factors, Combined Defect of
OMIM:233810	Growth Retardation, Small and Puffy Hands and Feet, and Eczema
OMIM:233910	GTP cyclohydrolase I deficiency
OMIM:234000	Factor XII deficiency disease
OMIM:234030	Hair Defect With Photosensitivity and Mental Retardation
OMIM:234050	Trichothiodystrophy 4, Nonphotosensitive
OMIM:234100	Hallermann-Streiff syndrome
OMIM:234200	Neurodegeneration With Brain Iron Accumulation 1
OMIM:234250	Hall-Riggs syndrome
OMIM:234280	Hallux Varus and Preaxial Polysyndactyly
OMIM:234350	Halothane Hepatitis
OMIM:234500	Hartnup Disorder
OMIM:234580	Deafness enamel hypoplasia nail defects
OMIM:234700	Heart Block, Congenital
OMIM:234800	Hemangiomatosis, Cutaneous, With Associated Features
OMIM:234810	Familial pulmonary capillary hemangiomatosis
OMIM:234820	Hemangiopericytoma, Malignant
OMIM:235000	IH
OMIM:235200	Hemochromatosis type 1
OMIM:235255	MB3llerian derivatives-lymphangiectasia-polydactyly syndrome
OMIM:235370	Hemolytic Anemia With Thermal Sensitivity of Red Cells
OMIM:235400	Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
OMIM:235500	Hemosiderosis, Pulmonary, With Deficiency of Gamma-A Globulin
OMIM:235510	Hennekam Lymphangiectasia-Lymphedema Syndrome 1
OMIM:235550	Hepatic Venoocclusive Disease With Immunodeficiency
OMIM:235555	Bile acid synthesis defect, congenital, 2
OMIM:235700	Hemolytic anemia due to hexokinase deficiency
OMIM:235730	Mowat-Wilson Syndrome
OMIM:235740	Hirschsprung Disease With Polydactyly, Renal Agenesis, and Deafness
OMIM:235750	Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect
OMIM:235760	Hirschsprung disease-nail hypoplasia-dysmorphism
OMIM:235800	Histidinemia
OMIM:235830	Histidinuria Due to a Renal Tubular Defect
OMIM:235900	Histiocytosis, Familial Lipochrome
OMIM:236000	Lymphoma, Hodgkin, Classic
OMIM:236100	HPE1
OMIM:236110	Holzgreve-Wagner-Rehder Syndrome
OMIM:236130	homocarnosinosis
OMIM:236200	Classic homocystinuria
OMIM:236250	Homocysteinemia due to MTHFR deficiency
OMIM:236270	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type
OMIM:236300	Hooft Disease
OMIM:236400	Humeroradial Synostosis
OMIM:236410	Humeroradial Synostosis With Craniofacial Anomalies
OMIM:236450	Hutterite Cerebroosteonephrodysplasia Syndrome
OMIM:236500	Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly
OMIM:236600	Hydrocephalus
OMIM:236640	Growth delay-hydrocephaly-lung hypoplasia syndrome
OMIM:236660	Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis
OMIM:236670	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain and Eye Anomalies), Type A, 1
OMIM:236680	Hydrolethalus Syndrome 1
OMIM:236690	Hydrocephalus, Normal-Pressure
OMIM:236700	McKusick Kaufman syndrome
OMIM:236730	Ochoa syndrome
OMIM:236750	Non-immune hydrops fetalis
OMIM:236792	L-2-Hydroxyglutaric Aciduria
OMIM:236795	3-Hydroxyisobutyric Aciduria
OMIM:236800	Hydroxykynureninuria
OMIM:236900	Seizures-intellectual disability due to hydroxylysinuria syndrome
OMIM:237000	Hydroxyprolinemia
OMIM:237100	Hymen, Imperforate
OMIM:237300	Carbamoyl Phosphate Synthetase 1 Deficiency, Hyperammonemia Due to
OMIM:237310	Hyperammonemia, type III
OMIM:237400	Hyper-beta-alaninemia
OMIM:237450	Rotor syndrome
OMIM:237500	Dubin-Johnson Syndrome
OMIM:237550	Hyperbilirubinemia, Conjugated, Type 3
OMIM:237800	PSHB
OMIM:237900	Hyperbilirubinemia, Transient Familial Neonatal
OMIM:238320	Leydig Cell Hypoplasia, Type 1
OMIM:238340	Hyperleucine-Isoleucinemia
OMIM:238350	Hyperlexia
OMIM:238600	familial lipoprotein lipase deficiency
OMIM:238700	Hyperlysinemia
OMIM:238710	Hyperlysinemia Due to Defect 1N Lysine Transport Into Mitochondria
OMIM:238750	Hyperlysinuria With Hyperammonemia
OMIM:238800	Hypermetabolism Due to Defect 1N Mitochondria
OMIM:238950	Hyperopia, High
OMIM:238970	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
OMIM:239000	Hyperphosphatasemia with bone disease
OMIM:239100	SOST-related sclerosing bone dysplasia
OMIM:239199	Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
OMIM:239200	Neonatal severe hyperparathyroidism
OMIM:239300	Hyperphosphatasia With Mental Retardation Syndrome 1
OMIM:239350	Hyperphosphatemia, Polyuria, and Seizures
OMIM:239500	Hyperprolinemia, Type 1
OMIM:239510	Hyperprolinemia type 2
OMIM:239710	Acrofrontofacionasal Dysostosis 2
OMIM:239711	Hypertelorism and Tetralogy of Fallot
OMIM:239800	Hypertelorism, Microtia, Facial Clefting Syndrome
OMIM:239840	Cervical hypertrichosis-peripheral neuropathy syndrome
OMIM:239850	Hypertrichotic osteochondrodysplasia
OMIM:239900	Hypertrophic Neuropathy and Cataract
OMIM:240000	Hyperuricemia, Infantile, With Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase
OMIM:240150	Hypervitaminosis A, Susceptibility to
OMIM:240200	Hypoadrenocorticism, Familial
OMIM:240300	Polyglandular autoimmune syndrome, type 1
OMIM:240400	scurvy
OMIM:240500	Common variable immunodeficiency 2
OMIM:240600	Glycogen Storage Disease 0, Liver
OMIM:240800	Leucine-induced hypoglycemia
OMIM:240900	Hypoinsulinemic Hypoglycemia With Hemihypertrophy
OMIM:240950	Hypogonadism-Cataract Syndrome
OMIM:241000	Hypogonadism With Low-Grade Mental Deficiency and Microcephaly
OMIM:241080	Woodhouse-Sakati syndrome
OMIM:241090	Primary hypergonadotropic hypogonadism-partial alopecia syndrome
OMIM:241100	Hypogonadism, Male
OMIM:241120	Hypohidrosis With Abnormal Palmar Dermal Ridges
OMIM:241150	Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
OMIM:241200	Bartter syndrome, type 2, antenatal
OMIM:241310	Hypomandibular faciocranial dysostosis
OMIM:241410	hypoparathyroidism-retardation-dysmorphism syndrome
OMIM:241500	Infantile hypophosphatasia
OMIM:241510	Hypophosphatasia, Childhood
OMIM:241519	Hypophosphatemia, Renal, With Intracerebral Calcifications
OMIM:241520	Autosomal recessive hypophosphatemic vitamin D refractory rickets
OMIM:241530	Hypophosphatemic Rickets With Hypercalciuria, Hereditary
OMIM:241550	Hypoplastic left heart syndrome
OMIM:241600	Immunodeficiency 43
OMIM:241760	Hypospadias-intellectual disability, Goldblatt type syndrome
OMIM:241800	Hypothalamic Hamartomas
OMIM:241850	Bamforth syndrome
OMIM:242050	Hypouricemia, Hypercalcinuria, and Decreased Bone Density
OMIM:242100	Ichthyosis, Congenital, Autosomal Recessive 2
OMIM:242150	Ichthyosiform Erythroderma, Corneal Involvement, and Deafness
OMIM:242300	Ichthyosis, Congenital, Autosomal Recessive 1
OMIM:242500	Ichthyosis, Congenital, Autosomal Recessive 4B
OMIM:242510	Ichthyosis With Alopecia, Eclabium, Ectropion, and Mental Retardation
OMIM:242520	Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration
OMIM:242530	Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
OMIM:242550	Ichthyosis, Split Hairs, and Amino Aciduria
OMIM:242600	Iminoglycinuria
OMIM:242670	Ciliary Dyskinesia With Defective Radial Spokes
OMIM:242680	Ciliary Dyskinesia With Excessively Long Cilia
OMIM:242700	Immune Defect Due to Absence of Thymus
OMIM:242840	Vici Syndrome
OMIM:242850	Immune Deficiency Disease
OMIM:242860	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
OMIM:242870	Immunodeficiency, Partial Combined, With Absence of Hla Determinants and Beta-2-Microglobulin From Lymphocytes
OMIM:242880	Immunoerythromyeloid Hypoplasia
OMIM:242890	Immunoglobulin D Level 1N Plasma, Low
OMIM:242900	Schimke immuno-osseous dysplasia
OMIM:243000	Indifference to Pain, Congenital, Autosomal Recessive
OMIM:243050	Indolylacroyl Glycinuria With Mental Retardation
OMIM:243060	Spermatogenic Failure 5
OMIM:243080	Inosine Phosphorylase Deficiency, Immune Defect Due to
OMIM:243100	Internal Carotid Arteries, Hypoplasia of
OMIM:243110	Immunodeficiency With Defective T-Cell Response to Interleukin 1
OMIM:243150	multiple intestinal atresia
OMIM:243180	Neuronal intestinal pseudoobstruction
OMIM:243185	Intestinal Pseudoobstruction With Patent Ductus Arteriosus and Natal Teeth
OMIM:243200	pseudotumor cerebri
OMIM:243300	Benign recurrent intrahepatic cholestasis type 1
OMIM:243310	Baraitser-Winter Syndrome 1
OMIM:243320	Intrinsic Factor and R Binder, Combined Congenital Deficiency of
OMIM:243400	Acetylation, Slow
OMIM:243440	Isotretinoin Embryopathy-Like Syndrome
OMIM:243450	Isovaleric Acid, Inability to Smell
OMIM:243500	isovaleric acidemia
OMIM:243600	Jejunal Atresia
OMIM:243700	Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive
OMIM:243800	Johanson-Blizzard syndrome
OMIM:243910	Arima Syndrome
OMIM:244100	Jumping Frenchmen of Maine
OMIM:244200	hypogonadotropic hypogonadism 3 with or without anosmia
OMIM:244300	Kapur-Toriello syndrome
OMIM:244400	Ciliary Dyskinesia, Primary, 1
OMIM:244450	Oculocerebrofacial syndrome, Kaufman type
OMIM:244460	Kenny-Caffey Syndrome, Type 1
OMIM:244600	Keratoconus Posticus Circumscriptus
OMIM:244850	Palmoplantar Keratoderma, Norrbotten Recessive Type
OMIM:245000	Papillon-Lefevre Syndrome
OMIM:245010	Haim-Munk Syndrome
OMIM:245050	Succinyl-CoA:3-ketoacid CoA transferase deficiency
OMIM:245100	RRNS
OMIM:245130	Ketoadipicaciduria
OMIM:245150	Keutel syndrome
OMIM:245160	Kniest-Like Dysplasia With Pursed Lips and Ectopia Lentis
OMIM:245180	Kifafa Seizure Disorder
OMIM:245190	Lethal Kniest-like dysplasia
OMIM:245200	Krabbe disease
OMIM:245300	Kuru, Susceptibility to
OMIM:245340	Metabolic myopathy due to lactate transporter defect
OMIM:245348	Pyruvate Dehydrogenase E2 Deficiency
OMIM:245349	Pyruvate dehydrogenase E3-binding protein deficiency
OMIM:245400	Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
OMIM:245450	Lactic Aciduria Due to D-Lactic Acid
OMIM:245480	Specific granule deficiency
OMIM:245550	Lambert syndrome
OMIM:245552	Lambotte Syndrome
OMIM:245570	Landau-Kleffner syndrome
OMIM:245590	Laron syndrome with immunodeficiency
OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
OMIM:245650	Larsen-Like Syndrome, Lethal Type
OMIM:245660	Laryngoonychocutaneous Syndrome
OMIM:245800	Laurence-Moon Syndrome
OMIM:245900	Lecithin:Cholesterol Acyltransferase Deficiency
OMIM:246000	Leg, Absence Deformity Of, With Congenital Cataract
OMIM:246200	Leprechaunism syndrome
OMIM:246300	Leprosy 3
OMIM:246400	Letterer-Siwe Disease
OMIM:246450	3-hydroxy-3-methylglutaric aciduria
OMIM:246470	Leukemia, Acute Myelocytic, With Polyposis Coli and Colon Cancer
OMIM:246500	Ectodermal dysplasia, Berlin type
OMIM:246550	Lichstenstein syndrome
OMIM:246555	Intellectual disability-spasticity-ectrodactyly syndrome
OMIM:246560	split hand-foot malformation 3
OMIM:246570	Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
OMIM:246650	Lipase deficiency combined
OMIM:246700	Chylomicron Retention Disease
OMIM:246900	Dihydrolipoamide Dehydrogenase Deficiency
OMIM:247100	Lipoid Proteinosis of Urbach and Wiethe
OMIM:247150	Lip Prints
OMIM:247200	Miller-Dieker Lissencephaly Syndrome
OMIM:247410	Lymphedema-Hypoparathyroidism Syndrome
OMIM:247430	Lymphoblastic Transformation, Inhibition of
OMIM:247440	Lymphedema, Congenital Recessive
OMIM:247450	Lymphoblastic Transformation, Intrinsic Defect 1N
OMIM:247610	lymphoid interstitial pneumonia
OMIM:247630	Lymphoid System Deterioration, Progressive
OMIM:247640	Lymphoblastic Leukemia, Acute, With Lymphomatous Features
OMIM:247650	Lymphokine Deficiency
OMIM:247800	Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis
OMIM:247950	Lysine Malabsorption Syndrome
OMIM:247990	Macdermot-Winter Syndrome
OMIM:248000	Macrocephaly
OMIM:248010	Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, and Aged Appearance
OMIM:248100	Macrosomia Adiposa Congenita
OMIM:248110	Macrosomia With Microphthalmia, Lethal
OMIM:248190	Hypomagnesemia 5, renal, with ocular involvement
OMIM:248200	Stargardt Disease 1
OMIM:248250	renal hypomagnesemia 3
OMIM:248260	Magnesium, Elevated Red Cell
OMIM:248300	Mal De Meleda
OMIM:248340	3MC syndrome 3
OMIM:248360	Deficiency of malonyl-CoA decarboxylase
OMIM:248370	Mandibuloacral Dysplasia With Type a Lipodystrophy
OMIM:248390	Treacher Collins Syndrome 3
OMIM:248400	Mandibulofacial dysostosis with mental deficiency
OMIM:248450	Manitoba Oculotrichoanal Syndrome
OMIM:248500	Mannosidosis, Alpha B, Lysosomal
OMIM:248510	Beta-D-mannosidosis
OMIM:248600	Maple Syrup Urine Disease
OMIM:248700	Marden-Walker Syndrome
OMIM:248760	Marfanoid Habitus With Microcephaly and Glomerulonephritis
OMIM:248770	Marfanoid Mental Retardation Syndrome, Autosomal
OMIM:248800	Marinesco-SjC6gren syndrome
OMIM:248900	Mast syndrome
OMIM:248910	Hennekam-Beemer syndrome
OMIM:248950	McDonough syndrome
OMIM:249000	Meckel Syndrome, Type 1
OMIM:249100	Familial Mediterranean Fever
OMIM:249230	Megaepiphyseal Dwarfism
OMIM:249240	Megalencephaly With Dysmyelination
OMIM:249270	Thiamine-Responsive Megaloblastic Anemia Syndrome
OMIM:249300	Megalocornea
OMIM:249310	Megalocornea-Mental Retardation Syndrome
OMIM:249400	Melanosis, Neurocutaneous
OMIM:249420	Frank-Ter Haar syndrome
OMIM:249500	Mental retardation, autosomal recessive 1
OMIM:249599	Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
OMIM:249600	Mental Retardation Syndrome, Mietens-Weber Type
OMIM:249620	Blepharophimosis-intellectual disability syndrome, Ohdo type
OMIM:249630	Mental Retardation, Buenos Aires Type
OMIM:249650	Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
OMIM:249660	Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
OMIM:249670	Mesoaxial Hexadactyly and Cardiac Malformation
OMIM:249700	Langer mesomelic dysplasia
OMIM:249710	Mesomelic Limb Shortening and Bowing
OMIM:249900	Sphingolipid activator protein 1 deficiency
OMIM:250100	Metachromatic leukodystrophy
OMIM:250215	Metaphyseal acroscyphodysplasia
OMIM:250220	Spondylometaphyseal Dysplasia, Sedaghatian Type
OMIM:250230	Metaphyseal chondrodysplasia, Kaitila type
OMIM:250250	cartilage-hair hypoplasia
OMIM:250300	Metaphyseal Chondrodysplasia, Pena Type
OMIM:250400	Metaphyseal Dysplasia, Spahr Type
OMIM:250410	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
OMIM:250420	Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
OMIM:250450	Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy
OMIM:250460	Metaphyseal dysplasia without hypotrichosis
OMIM:250500	Metaphyseal Modeling Abnormality, Skin Lesions, and Spastic Paraplegia
OMIM:250620	3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
OMIM:250700	Methemoglobin Reductase Deficiency
OMIM:250790	Methemoglobinemia type 4
OMIM:250800	Recessive hereditary methemoglobinemia type 1
OMIM:250850	Hepatic methionine adenosyltransferase deficiency
OMIM:250900	Methionine Malabsorption Syndrome
OMIM:250940	Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
OMIM:250950	3-Methylglutaconic Aciduria, Type 1
OMIM:250951	3-Methylglutaconic Aciduria, Type 4
OMIM:251000	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
OMIM:251100	methylmalonic acidemia cb1A type
OMIM:251110	Methylmalonic Aciduria, Cblb Type
OMIM:251120	Methylmalonyl-CoA epimerase deficiency
OMIM:251190	Microcephalic Primordial Dwarfism, Toriello Type
OMIM:251200	Microcephaly 1, Primary, Autosomal Recessive
OMIM:251220	Microcephaly-cardiomyopathy syndrome
OMIM:251230	Microcephaly-Micromelia Syndrome
OMIM:251240	Say-Barber-Miller syndrome
OMIM:251250	Microcephaly-cervical spine fusion anomalies syndrome
OMIM:251255	Microcephaly with mental retardation and digital anomalies
OMIM:251260	Microcephaly, normal intelligence and immunodeficiency
OMIM:251270	Microcephaly with chorioretinopathy, autosomal recessive
OMIM:251280	Microcephaly With Spastic Quadriplegia
OMIM:251290	pseudo-TORCH syndrome 1
OMIM:251300	Galloway-Mowat syndrome
OMIM:251400	Microcolon
OMIM:251450	Desbuquois dysplasia 1
OMIM:251505	Microphthalmia, Isolated, With Coloboma 4
OMIM:251600	isolated microphthalmia 1
OMIM:251700	Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies
OMIM:251750	Microspherophakia And/Or Megalocornea, With Ectopia Lentis and With or Without Secondary Glaucoma
OMIM:251800	Microtia With Meatal Atresia and Conductive Deafness
OMIM:251850	Diarrhea 2, With Microvillus Atrophy
OMIM:251880	Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
OMIM:251900	Mitochondrial Myopathy
OMIM:251945	Mitochondrial Myopathy With a Defect 1N Mitochondrial-Protein Transport
OMIM:251950	Mitochondrial myopathy-lactic acidosis-deafness syndrome
OMIM:252010	Mitochondrial Complex 1 Deficiency
OMIM:252011	Mitochondrial complex II deficiency
OMIM:252100	Orofaciodigital syndrome type 2
OMIM:252150	Molybdenum Cofactor Deficiency, Complementation Group a
OMIM:252160	Molybdenum Cofactor Deficiency, Complementation Group B
OMIM:252250	Monocyte Chemotactic Disorder
OMIM:252270	Monosomy 7 of Bone Marrow
OMIM:252300	Morquio Syndrome C
OMIM:252320	Motor Neuropathy, Peripheral, With Dysautonomia
OMIM:252350	MYMY1
OMIM:252500	Mucolipidosis 2 Alpha/Beta
OMIM:252600	Pseudo-Hurler polydystrophy
OMIM:252605	Mucolipidosis III Gamma
OMIM:252650	Mucolipidosis type IV
OMIM:252700	Mucopolysaccharidoses, Unclassified Types
OMIM:252900	Sanfilippo syndrome type A
OMIM:252920	Sanfilippo syndrome type B
OMIM:252930	Sanfilippo syndrome type C
OMIM:252940	Sanfilippo syndrome type D
OMIM:253000	Mucopolysaccharidosis, Type 4A
OMIM:253010	Mucopolysaccharidosis type 4B
OMIM:253200	mucopolysaccharidosis VI
OMIM:253220	Mucopolysaccharidosis, Type 7
OMIM:253240	Mucus Inspissation of Respiratory Tract
OMIM:253250	Mulibrey nanism syndrome
OMIM:253260	Biotinidase deficiency
OMIM:253270	Holocarboxylase synthetase deficiency
OMIM:253280	Muscle eye brain disease
OMIM:253290	Lethal multiple pterygium syndrome
OMIM:253300	Spinal Muscular Atrophy, Type 1
OMIM:253310	lethal congenital contracture syndrome 1
OMIM:253320	Multicore Myopathy With Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism
OMIM:253400	Spinal Muscular Atrophy, Type 3
OMIM:253550	intermediate spinal muscular atrophy
OMIM:253590	Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
OMIM:253600	Limb-girdle muscular dystrophy, type 2A
OMIM:253601	Limb-girdle muscular dystrophy, type 2B
OMIM:253700	Severe autosomal recessive muscular dystrophy of childhood - North African type
OMIM:253800	Fukuyama congenital muscular dystrophy
OMIM:253900	arthrogryposis due to muscular dystrophy
OMIM:254000	Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
OMIM:254090	Ullrich Congenital Muscular Dystrophy 1
OMIM:254100	Muscular Dystrophy, Congenital, With Rapid Progression
OMIM:254110	autosomal recessive limb-girdle muscular dystrophy type 2H
OMIM:254120	Muscular Hypertonia, Lethal
OMIM:254130	Miyoshi myopathy
OMIM:254150	Musk, Inability to Smell
OMIM:254190	Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors
OMIM:254200	myasthenia gravis
OMIM:254210	Familial infantile myasthenia
OMIM:254300	Myasthenia, limb-girdle, familial
OMIM:254400	Mycosis Fungoides
OMIM:254450	myelofibrosis
OMIM:254500	Myeloma, Multiple
OMIM:254600	Myeloperoxidase Deficiency
OMIM:254700	Myeloproliferative Disease, Autosomal Recessive
OMIM:254770	Epilepsy, Myoclonic Juvenile
OMIM:254780	Myoclonic Epilepsy of Lafora
OMIM:254800	Unverricht-Lundborg syndrome
OMIM:254900	Epilepsy, Progressive Myoclonic, 4, With or Without Renal Failure
OMIM:254940	Carey-Fineman-Ziter Syndrome
OMIM:254950	Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
OMIM:254960	Myopathy Due to Malate-Aspartate Shuttle Defect
OMIM:255100	Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency
OMIM:255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
OMIM:255120	Carnitine palmitoyl transferase 1A deficiency
OMIM:255125	Myopathy with lactic acidosis, hereditary
OMIM:255140	Myopathy With Giant Abnormal Mitochondria
OMIM:255160	Myopathy, myosin storage, autosomal recessive
OMIM:255200	Myopathy, Centronuclear, 2
OMIM:255300	Congenital myopathy
OMIM:255310	Congenital myopathy with fiber type disproportion
OMIM:255320	Minicore Myopathy With External Ophthalmoplegia
OMIM:255500	MYP18
OMIM:255600	Myosclerosis
OMIM:255700	Congenital myotonia, autosomal recessive form
OMIM:255710	Myotonia With Skeletal Abnormalities and Mental Retardation
OMIM:255800	Schwartz-Jampel Syndrome, Type 1
OMIM:255900	myxedema
OMIM:255960	Atrial myxoma, familial
OMIM:255980	Keipert syndrome
OMIM:255990	Nathalie Syndrome
OMIM:255995	Native American Myopathy
OMIM:256000	Leigh syndrome
OMIM:256020	Nail-patella-like renal disease
OMIM:256030	Nemaline myopathy 2
OMIM:256040	Nakajo syndrome
OMIM:256050	Atelosteogenesis type II
OMIM:256100	Nephronophthisis 1
OMIM:256120	Nephropathy-deafness-hyperparathyroidism syndrome
OMIM:256150	Nephrosialidosis
OMIM:256200	Nephrosis-deafness-urinary tract-digital malformations syndrome
OMIM:256300	Nephrotic Syndrome, Type 1
OMIM:256370	Diffuse mesangial sclerosis
OMIM:256450	Persistent hyperinsulinemic hypoglycemia of infancy
OMIM:256500	Netherton syndrome
OMIM:256520	Neu-Laxova syndrome 1
OMIM:256540	Combined deficiency of sialidase AND beta galactosidase
OMIM:256550	glycoproteinosis
OMIM:256600	Infantile neuroaxonal dystrophy
OMIM:256690	Neurofaciodigitorenal syndrome
OMIM:256700	Neuroblastoma, Susceptibility to
OMIM:256710	Neuroectodermal melanolysosomal disease
OMIM:256720	Neurologic Disease, Infantile Multisystem, With Osseous Fragility
OMIM:256730	neuronal ceroid lipofuscinosis 1
OMIM:256731	neuronal ceroid lipofuscinosis 5
OMIM:256800	Hereditary insensitivity to pain with anhidrosis
OMIM:256810	Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
OMIM:256840	Hereditary sensory and autonomic neuropathy with spastic paraplegia
OMIM:256850	Giant Axonal Neuropathy 1, Autosomal Recessive
OMIM:256860	Neuropathy, Hereditary Sensory, Atypical
OMIM:256870	Neuropathy, Painful
OMIM:257000	Neurovisceral Storage Disease With Curvilinear Bodies
OMIM:257100	Neutropenia, Lethal Congenital, With Eosinophilia
OMIM:257150	NAD
OMIM:257200	Niemann-Pick disease type A
OMIM:257220	Niemann-Pick Disease, Type C1
OMIM:257270	Congenital stationary night blindness, type 1B
OMIM:257300	mosaic variegated aneuploidy syndrome 1
OMIM:257320	Lissencephaly 2
OMIM:257350	cystic lymphangioma
OMIM:257400	Nystagmus, Congenital, Autosomal Recessive
OMIM:257500	Obesity-Hypoventilation Syndrome
OMIM:257550	Ocular motor apraxia, Cogan type
OMIM:257600	Ocular Myopathy With Curare Sensitivity
OMIM:257790	Oculocerebral Hypopigmentation Syndrome of Preus
OMIM:257800	Oculocerebral Syndrome With Hypopigmentation
OMIM:257850	Oculodentodigital Dysplasia, Autosomal Recessive
OMIM:257910	Oculopalatocerebral Syndrome
OMIM:257920	3MC syndrome 1
OMIM:257960	Oculotrichodysplasia
OMIM:257970	Oculorenocerebellar Syndrome
OMIM:257980	Odontoonychodermal Dysplasia
OMIM:258040	cloacal exstrophy
OMIM:258100	Oguchi Disease 1
OMIM:258150	SPGF1
OMIM:258200	Oliver syndrome
OMIM:258300	Olivopontocerebellar Atrophy Ii, Autosomal Recessive
OMIM:258315	Omodysplasia 1
OMIM:258320	Lethal omphalocele-cleft palate syndrome
OMIM:258360	Onychotrichodysplasia and Neutropenia
OMIM:258400	Ophthalmoplegia Totalis With Ptosis and Miosis
OMIM:258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia
OMIM:258470	Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
OMIM:258480	Opsismodysplasia
OMIM:258500	OPA6
OMIM:258501	3-Methylglutaconic aciduria type 3
OMIM:258650	Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive
OMIM:258660	Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility to
OMIM:258700	Opticocochleodentate Degeneration
OMIM:258800	Oral Sensibility, Disturbance of
OMIM:258840	Oral and Digital Anomalies With Ichthyosis
OMIM:258850	orofaciodigital syndrome III
OMIM:258860	Orofacial-digital syndrome IV
OMIM:258865	OFD9
OMIM:258870	gyrate atrophy
OMIM:258900	Orotic Aciduria
OMIM:259050	Primrose syndrome
OMIM:259100	Pachydermoperiostosis
OMIM:259200	Blount Disease, Adolescent
OMIM:259270	Osteodysplasty, Precocious, of Danks, Mayne, and Kozlowski
OMIM:259410	Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
OMIM:259420	osteogenesis imperfecta type 3
OMIM:259440	Osteogenesis imperfecta type 9
OMIM:259450	Bruck Syndrome 1
OMIM:259500	Osteogenic Sarcoma
OMIM:259550	Osteoid Osteoma
OMIM:259600	Torg-Winchester syndrome
OMIM:259610	Osteolysis Syndrome, Recessive
OMIM:259650	Osteoma of Middle Ear
OMIM:259660	Osteomalacia, Sclerosing, With Cerebral Calcification
OMIM:259680	chronic recurrent multifocal osteomyelitis
OMIM:259690	Kaler-Garrity-Stern syndrome
OMIM:259700	Osteopetrosis autosomal recessive 1
OMIM:259710	Osteopetrosis autosomal recessive 2
OMIM:259720	Osteopetrosis, autosomal recessive 5
OMIM:259730	Osteopetrosis with renal tubular acidosis
OMIM:259750	Osteoporosis, Juvenile
OMIM:259770	Osteoporosis with pseudoglioma
OMIM:259775	Lethal osteosclerotic bone dysplasia
OMIM:259780	Otoonychoperoneal Syndrome
OMIM:259900	Primary hyperoxaluria, type I
OMIM:260000	Primary hyperoxaluria, type II
OMIM:260005	5-Oxoprolinase deficiency
OMIM:260100	Pa Polymorphism of Alpha-2-Globulin
OMIM:260130	Pachyonychia Congenita, Autosomal Recessive
OMIM:260150	Palant Cleft Palate Syndrome
OMIM:260200	Pallidal Degeneration, Progressive, With Retinitis Pigmentosa
OMIM:260300	autosomal recessive early-onset Parkinson disease 15
OMIM:260350	Carcinoma of pancreas
OMIM:260370	Pancreatic Agenesis 1
OMIM:260400	Shwachman-Diamond syndrome
OMIM:260450	Pancreatic Insufficiency, Combined Exocrine
OMIM:260470	Panencephalitis, Subacute Sclerosing
OMIM:260480	Pancreatitis, Sclerosing Cholangitis, and Sicca Complex
OMIM:260500	Choroid plexus papilloma
OMIM:260530	Parana hard-skin syndrome
OMIM:260540	Parkinson-Dementia Syndrome
OMIM:260565	Peho Syndrome
OMIM:260570	Pelger-Huet-Like Anomaly and Episodic Fever With Abdominal Pain
OMIM:260600	Leukodystrophy, hypomyelinating 3
OMIM:260650	Pellagra-Like Syndrome
OMIM:260660	Cousin syndrome
OMIM:260800	Pentosuria
OMIM:260900	Pericardial Effusion, Chronic
OMIM:260910	Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
OMIM:260920	Hyperimmunoglobulin D with periodic fever
OMIM:260950	Periodontitis, Chronic
OMIM:260970	Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
OMIM:261000	congenital intrinsic factor deficiency
OMIM:261100	Megaloblastic Anemia 1
OMIM:261400	Peroneus Tertius Muscle, Absence of
OMIM:261515	Bifunctional peroxisomal enzyme deficiency
OMIM:261540	Peters-Plus Syndrome
OMIM:261550	Persistent Mullerian Duct Syndrome, Types 1 and 2
OMIM:261560	Pfeiffer-Palm-Teller syndrome
OMIM:261590	Phenformin 4-Hydroxylation
OMIM:261600	Phenylketonuria
OMIM:261630	Dihydropteridine reductase deficiency
OMIM:261640	6-pyruvoyl-tetrahydropterin synthase deficiency
OMIM:261650	Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
OMIM:261670	Glycogen Storage Disease 10
OMIM:261680	Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
OMIM:261740	Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
OMIM:261750	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
OMIM:261800	Weissenbacher-Zweymüller syndrome
OMIM:261900	Pili torti
OMIM:261990	Pili torti-developmental delay-neurological abnormalities syndrome
OMIM:262000	Bjornstad syndrome
OMIM:262020	Pilodental dysplasia-refractive errors syndrome
OMIM:262190	Pineal hyperplasia AND diabetes mellitus syndrome
OMIM:262300	achromatopsia 3
OMIM:262400	Isolated Growth Hormone Deficiency, Type 1A
OMIM:262500	Laron-type isolated somatotropin defect
OMIM:262600	Pituitary hormone deficiency, combined 2
OMIM:262650	Kowarski Syndrome
OMIM:262700	Short stature-pituitary and cerebellar defects-small sella turcica syndrome
OMIM:262710	Pituitary Dwarfism With Large Sella Turcica
OMIM:262800	Plasma Clot Retraction Factor, Deficiency of
OMIM:262850	Anti-plasmin deficiency, congenital
OMIM:262875	Platelet Prostacyclin Receptor Defect
OMIM:262890	Scott Syndrome
OMIM:262900	Pleoconial Myopathy With Salt Craving
OMIM:263000	desquamative interstitial pneumonia
OMIM:263100	Polycystic Kidney, Cataract, and Congenital Blindness
OMIM:263200	Polycystic Kidney Disease 4 With or Without Hepatic Disease
OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome
OMIM:263300	polycythemia vera
OMIM:263400	Erythrocytosis, familial, 2
OMIM:263450	PAPA5
OMIM:263520	short-rib thoracic dysplasia 6 with or without polydactyly
OMIM:263540	Polydactyly, Postaxial, With Dental and Vertebral Anomalies
OMIM:263550	Polymyoclonus, Infantile
OMIM:263570	Adult polyglucosan body disease
OMIM:263600	Polysaccharide, Storage of Unusual
OMIM:263610	Polyhydramnios, Chronic Idiopathic
OMIM:263630	Polysyndactyly With Cardiac Malformation
OMIM:263650	Bartsocas-Papas syndrome
OMIM:263700	Congenital erythropoietic porphyria
OMIM:263750	Postaxial Acrofacial Dysostosis
OMIM:263800	Gitelman syndrome
OMIM:264010	Prader-Willi Habitus, Osteopenia, and Camptodactyly
OMIM:264050	Prenatal Bowing
OMIM:264060	Prepapillary Vascular Loops
OMIM:264070	Hyperphenylalaninemia, BH4-deficient, D
OMIM:264080	Progesterone Resistance
OMIM:264090	Progeroid Syndrome, Neonatal
OMIM:264110	Prolactin Deficiency, Isolated
OMIM:264120	Prolactin Deficiency With Obesity and Enlarged Testes
OMIM:264140	Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, and Deafness
OMIM:264180	Pseudodiastrophic dysplasia
OMIM:264270	46,XX disorder of sex development-skeletal anomalies syndrome
OMIM:264300	Testosterone 17-beta-dehydrogenase deficiency
OMIM:264350	autosomal recessive pseudohypoaldosteronism type 1
OMIM:264420	Pseudoinflammatory fundus dystrophy
OMIM:264470	peroxisomal acyl-CoA oxidase deficiency
OMIM:264475	Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies
OMIM:264480	Pseudotrisomy 13 Syndrome
OMIM:264500	Pseudouridinuria and Mental Defect
OMIM:264600	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
OMIM:264700	Hypocalcemic vitamin D-dependent rickets
OMIM:264800	Pseudoxanthoma Elasticum
OMIM:265000	Multiple Pterygium Syndrome, Escobar Variant
OMIM:265050	3MC syndrome 2
OMIM:265100	pulmonary alveolar microlithiasis
OMIM:265120	Surfactant Metabolism Dysfunction, Pulmonary, 1
OMIM:265140	Pulmonary Arteriovenous Fistulas
OMIM:265150	Pulmonary atresia with intact ventricular septum
OMIM:265200	Pulmonary Bullae Causing Pneumothorax
OMIM:265300	Congenital pulmonary lymphangiectasia
OMIM:265380	persistent fetal circulation syndrome
OMIM:265400	Pulmonary Hypertension, Primary, Autosomal Recessive
OMIM:265430	Familial primary pulmonary hypoplasia
OMIM:265450	Pulmonary veno-occlusive disease
OMIM:265500	Pulmonic stenosis
OMIM:265800	Pycnodysostosis
OMIM:265850	Pygmy
OMIM:265880	Pyknoachondrogenesis
OMIM:265900	Pyle metaphyseal dysplasia
OMIM:265950	Pyloric Atresia
OMIM:266100	Epilepsy, Pyridoxine-Dependent
OMIM:266120	Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to
OMIM:266130	Glutathione synthetase deficiency with 5-oxoprolinuria
OMIM:266140	Pyropoikilocytosis, Hereditary
OMIM:266150	Pyruvate carboxylase deficiency
OMIM:266200	Pyruvate kinase deficiency of red cells
OMIM:266250	Radiculoneuropathy, Fatal Neonatal
OMIM:266255	Radioulnar synostosis-developmental delay-hypotonia syndrome
OMIM:266265	Congenital Disorder of Glycosylation, Type Iic
OMIM:266270	Ramon syndrome
OMIM:266280	rapadilino syndrome
OMIM:266350	Red Skin Pigment Anomaly of New Guinea
OMIM:266400	Reese Retinal Dysplasia
OMIM:266500	Phytanic acid storage disease
OMIM:266510	Peroxisome Biogenesis Disorder 3B
OMIM:266600	Inflammatory Bowel Disease (Crohn Disease) 1
OMIM:266810	Renal and Mullerian Duct Hypoplasia
OMIM:266900	Senior-Loken Syndrome 1
OMIM:266910	Renal Dysplasia-Limb Defects Syndrome
OMIM:266920	Short-Rib Thoracic Dysplasia 9 With or Without Polydactyly
OMIM:267000	Perlman Syndrome
OMIM:267010	Meckel Syndrome, Type 7
OMIM:267200	Renal Tubular Acidosis 3
OMIM:267300	Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness
OMIM:267400	Renal-genital-middle ear anomalies
OMIM:267430	Renal dysplasia
OMIM:267450	newborn respiratory distress syndrome
OMIM:267480	Respiratory Underresponsiveness to Hypoxia and Hypercapnia
OMIM:267500	Reticular dysgenesis
OMIM:267700	FHL1
OMIM:267730	Reticulum Cell Sarcoma
OMIM:267740	Retinal Degeneration and Epilepsy
OMIM:267750	Knobloch syndrome
OMIM:267760	Retinal degeneration-nanophthalmos-glaucoma syndrome
OMIM:267800	Reticular dystrophy of the retinal pigment epithelium
OMIM:267900	Retinal Telangiectasia and Hypogammaglobulinemia
OMIM:268000	Retinitis Pigmentosa
OMIM:268010	Retinitis Pigmentosa Inversa With Deafness
OMIM:268020	Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
OMIM:268025	late-adult onset retinitis pigmentosa
OMIM:268040	Retinohepatoendocrinologic Syndrome
OMIM:268050	Retinopathy, Pigmentary, and Mental Retardation
OMIM:268060	autosomal recessive pericentral pigmentary retinopathy
OMIM:268080	Retinoschisis of Fovea
OMIM:268100	enhanced S-cone syndrome
OMIM:268130	Revesz Syndrome
OMIM:268150	Rh-null, regulator type
OMIM:268200	Myoglobinuria, acute recurrent, autosomal recessive
OMIM:268210	Rhabdomyosarcoma, Embryonal, 1
OMIM:268220	alveolar rhabdomyosarcoma
OMIM:268240	Rheumatic Fever-Related Antigen
OMIM:268250	Rhizomelic Syndrome
OMIM:268300	Roberts syndrome
OMIM:268305	Richieri Costa Pereira syndrome
OMIM:268310	autosomal recessive Robinow syndrome
OMIM:268320	Ectodermal dysplasia-blindness syndrome
OMIM:268400	Rothmund-Thomson Syndrome
OMIM:268500	Rowley-Rosenberg Syndrome
OMIM:268650	Rudiger Syndrome
OMIM:268700	Saccharopinuria
OMIM:268800	Sandhoff Disease
OMIM:268850	Richieri-Costa/Guion-Almeida Syndrome
OMIM:268900	Sarcosinemia
OMIM:269000	Sc Phocomelia Syndrome
OMIM:269150	Schinzel-Giedion syndrome
OMIM:269160	Schizencephaly
OMIM:269200	APS2
OMIM:269250	schneckenbecken dysplasia
OMIM:269300	Craniometaphyseal dysplasia
OMIM:269400	Anterior Segment Dysgenesis 7
OMIM:269500	sclerosteosis 1
OMIM:269600	Sea-blue histiocyte syndrome
OMIM:269630	Second Metatarsal-Metacarpal Syndrome
OMIM:269650	Secretory Component Deficiency
OMIM:269700	Lipodystrophy, Congenital Generalized, Type 2
OMIM:269720	Seizures, Benign Familial Neonatal, Autosomal Recessive
OMIM:269800	Senile Plaque Formation
OMIM:269840	Immunodeficiency 48
OMIM:269860	Beemer-Langer syndrome
OMIM:269870	Short Stature-Obesity Syndrome
OMIM:269880	Short Syndrome
OMIM:269920	Sialic acid storage disease, severe infantile type
OMIM:269921	sialuria
OMIM:270100	Visceral heterotaxy 5, autosomal
OMIM:270150	Sjogren's syndrome
OMIM:270200	Sj��gren-Larsson syndrome
OMIM:270220	Sjogren-Larsson-Like Ichthyosis Without Cns or Eye Involvement
OMIM:270300	Peeling skin syndrome
OMIM:270350	Skunk N-Butylmercaptan, Inability to Smell
OMIM:270400	Smith-Lemli-Opitz Syndrome
OMIM:270420	Diarrhea 3, Secretory Sodium, Congenital, With or Without Other Congenital Anomalies
OMIM:270425	Sodium-Potassium-Atpase Activity of Red Cell
OMIM:270450	Insulin-Like Growth Factor I, Resistance to
OMIM:270460	Heart defect-round face-congenital developmental delay syndrome
OMIM:270500	Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy and Mental Retardation
OMIM:270550	Charlevoix-Saguenay spastic ataxia
OMIM:270600	Spastic Diplegia and Mental Retardation
OMIM:270685	hereditary spastic paraplegia 17
OMIM:270700	Spastic paraplegia 15
OMIM:270710	Fitzsimmons-Guilbert syndrome
OMIM:270750	hereditary spastic paraplegia 23
OMIM:270800	Spastic paraplegia 5A
OMIM:270850	Spastic paraplegia-glaucoma-intellectual disability syndrome
OMIM:270900	Spastic Pseudosclerosis
OMIM:270950	Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation
OMIM:270960	Spermatogenesis arrest
OMIM:270970	Spherocytosis type 3
OMIM:271109	Spinal Muscular Atrophy With Mental Retardation
OMIM:271110	Spinal Muscular Atrophy With Microcephaly and Mental Subnormality
OMIM:271150	Spinal Muscular Atrophy, Type 4
OMIM:271200	Spinal Muscular Atrophy, Ryukyuan Type
OMIM:271220	Spinal Muscular Atrophy, Scapuloperoneal
OMIM:271225	Spinal Muscular Atrophy, Type I, With Congenital Bone Fractures
OMIM:271245	Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
OMIM:271250	SCAR3
OMIM:271270	Spinocerebellar ataxia-dysmorphism syndrome
OMIM:271310	Corneal-cerebellar syndrome
OMIM:271320	Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, and Myopia
OMIM:271322	Spinocerebellar Degeneration With Slow Eye Movements
OMIM:271400	Familial isolated congenital asplenia
OMIM:271500	Splenoportal Vascular Anomalies
OMIM:271510	Spondyloepimetaphyseal Dysplasia, Sponastrime Type
OMIM:271520	Spondylocostal dysostosis-anal and genitourinary malformations syndrome
OMIM:271530	BCYM1A
OMIM:271550	Moved to 607944
OMIM:271600	Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
OMIM:271620	Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
OMIM:271630	BCYM1B
OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity
OMIM:271650	SEMDIT
OMIM:271665	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
OMIM:271700	Spondyloperipheral dysplasia
OMIM:271900	Canavan disease
OMIM:271930	Striatonigral Degeneration, Infantile
OMIM:271950	Subaortic Stenosis, Membranous
OMIM:271960	Subaortic stenosis-short stature syndrome
OMIM:271980	Succinic Semialdehyde Dehydrogenase Deficiency
OMIM:272000	Sucrosuria, Hiatus Hernia and Mental Retardation
OMIM:272100	Schilder disease
OMIM:272120	sudden infant death syndrome
OMIM:272150	Sugarman Brachydactyly
OMIM:272200	Multiple sulfatase deficiency
OMIM:272300	Sulfite oxidase deficiency
OMIM:272350	Summitt Syndrome
OMIM:272430	Cold-Induced Sweating Syndrome 1
OMIM:272440	Filippi syndrome
OMIM:272450	Syndesmodysplasic Dwarfism
OMIM:272460	Spondylocarpotarsal Synostosis Syndrome
OMIM:272600	Tapetoretinal Degeneration With Ataxia
OMIM:272620	Tardive Dyskinesia
OMIM:272650	Tatsumi Factor Deficiency
OMIM:272700	Taurodontism
OMIM:272750	Tay-Sachs disease AB variant
OMIM:272800	Tay-Sachs disease
OMIM:272950	Teebi-Shaltout Syndrome
OMIM:272980	Teeth, Congenital Absence Of, With Taurodontia and Sparse Hair
OMIM:273000	Teeth, Fused
OMIM:273050	Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
OMIM:273120	Teratoma, Pineal
OMIM:273150	Testes, Rudimentary
OMIM:273250	TRS
OMIM:273300	Testicular Germ Cell Tumor
OMIM:273390	Tetraamelia With Ectodermal Dysplasia and Lacrimal Duct Abnormalities
OMIM:273395	Tetraamelia-multiple malformations syndrome
OMIM:273400	Odontotrichomelic syndrome
OMIM:273600	Thalidomide Susceptibility
OMIM:273680	Thanatophoric Dysplasia, Glasgow Variant
OMIM:273730	Thoracic dysplasia-hydrocephalus syndrome
OMIM:273740	Thoracomelic Dysplasia
OMIM:273750	Three M Syndrome 1
OMIM:273770	Threoninemia
OMIM:273800	Glanzmann's thrombasthenia
OMIM:273900	THC3
OMIM:274000	Radial aplasia-thrombocytopenia syndrome
OMIM:274150	Thrombotic Thrombocytopenic Purpura, Congenital
OMIM:274190	Thumb Agenesis, Short Stature, and Immunodeficiency
OMIM:274200	Thumb, Distal Hyperextensibility of
OMIM:274205	Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, and Deafness
OMIM:274210	Thymic Aplasia With Fetal Death
OMIM:274230	Thymoma, Familial
OMIM:274240	Thyrocerebrorenal syndrome
OMIM:274265	Thymic-renal-anal-lung dysplasia
OMIM:274270	dihydropyrimidine dehydrogenase deficiency
OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive
OMIM:274400	Thyroid Dyshormonogenesis 1
OMIM:274500	Deficiency of iodide peroxidase
OMIM:274600	Pendred's syndrome
OMIM:274700	Iodotyrosyl coupling defect
OMIM:274800	Iodotyrosine deiodination defect
OMIM:274900	Thyroglobulin synthesis defect
OMIM:275000	thyrotoxicosis
OMIM:275100	Secondary hypothyroidism
OMIM:275120	Isolated thyrotropin-releasing hormone deficiency
OMIM:275190	Tiglic Acidemia
OMIM:275200	Hypothyroidism, Congenital, Nongoitrous, 1
OMIM:275210	Restrictive Dermopathy, Lethal
OMIM:275220	Tibial Hemimelia
OMIM:275230	Tibia, Absence Of, With Congenital Deafness
OMIM:275240	Tinea Imbricata, Susceptibility to
OMIM:275250	Tongue, Pigmented Fungiform Papillae of
OMIM:275300	Mounier-KC<hn syndrome
OMIM:275350	transcobalamin II deficiency
OMIM:275355	Squamous cell carcinoma of the head and neck
OMIM:275370	Tricarboxylic Acid Cycle, Defect of
OMIM:275400	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
OMIM:275450	Trichoodontoonychial dysplasia
OMIM:275595	Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
OMIM:275630	Chanarin-Dorfman Syndrome
OMIM:275900	Troyer syndrome
OMIM:276100	Tryptophanuria With Dwarfism
OMIM:276200	T-Substance Anomaly
OMIM:276300	Turcot syndrome
OMIM:276600	Tyrosinemia type 2
OMIM:276700	Tyrosinemia type I
OMIM:276710	tyrosinemia type III
OMIM:276800	Tyrosinosis
OMIM:276820	Phocomelia, Schinzel type
OMIM:276821	Ulnar Hypoplasia With Mental Retardation
OMIM:276822	Ulnar Agenesis and Endocardial Fibroelastosis
OMIM:276880	Urocanic aciduria
OMIM:276900	Usher Syndrome, Type 1
OMIM:276901	Usher syndrome, type 2A
OMIM:276902	Usher syndrome, type 3A
OMIM:276904	Usher syndrome type 1C
OMIM:276950	VACTERL association with hydrocephalus
OMIM:277000	Mayer-Rokitansky-Kuster-Hauser Syndrome
OMIM:277100	Valinemia
OMIM:277150	Van Bogaert-Hozay Syndrome
OMIM:277170	Joubert syndrome with orofaciodigital defect
OMIM:277175	Vascular Hyalinosis
OMIM:277180	Vas Deferens, Congenital Bilateral Aplasia of
OMIM:277200	Right Ventricular Hypoplasia, Isolated
OMIM:277300	Spondylocostal dysostosis 1, autosomal recessive
OMIM:277320	Oculogastrointestinal muscular dystrophy
OMIM:277350	Hypercarotenemia and Vitamin a Deficiency, Autosomal Recessive
OMIM:277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
OMIM:277400	Methylmalonic acidemia with homocystinuria
OMIM:277410	Methylmalonic Aciduria and Homocystinuria, Cbld Type
OMIM:277440	Vitamin D-Dependent Rickets, Type 2A
OMIM:277450	Hereditary combined deficiency of vitamin K-dependent clotting factors
OMIM:277460	Vitamin E, Familial Isolated Deficiency of
OMIM:277465	Vitiligo, Progressive, With Mental Retardation and Urethral Duplication
OMIM:277470	Pontocerebellar hypoplasia type 2A
OMIM:277480	Von Willebrand Disease, Type 3
OMIM:277580	Waardenburg Syndrome, Type 4A
OMIM:277590	Weaver Syndrome
OMIM:277600	Weill-Marchesani Syndrome 1
OMIM:277610	Moved to 184840
OMIM:277700	Werner Syndrome
OMIM:277720	Whistling Face Syndrome, Recessive Form
OMIM:277730	Wernicke-Korsakoff syndrome
OMIM:277740	White forelock with malformations
OMIM:277900	Wilson disease
OMIM:277950	Winchester Syndrome
OMIM:277970	Wiskott-Aldrich syndrome
OMIM:277990	Wolff Mental Retardation Syndrome
OMIM:278000	Lysosomal acid lipase deficiency
OMIM:278100	Wolman Disease With Hypolipoproteinemia and Acanthocytosis
OMIM:278150	Hypotrichosis 8
OMIM:278200	Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
OMIM:278250	Wrinkly Skin Syndrome
OMIM:278300	Deficiency of xanthine oxidase
OMIM:278700	Xeroderma Pigmentosum, Complementation Group a
OMIM:278720	Xeroderma Pigmentosum, Complementation Group C
OMIM:278730	Xeroderma Pigmentosum, Complementation Group D
OMIM:278740	Xeroderma pigmentosum, group E
OMIM:278750	Xeroderma pigmentosum, variant type
OMIM:278760	Xeroderma pigmentosum, group F
OMIM:278780	Xeroderma pigmentosum, group G
OMIM:278800	De Sanctis-Cacchione Syndrome
OMIM:278850	46,XX sex reversal 2
OMIM:278900	Xylosidase Deficiency
OMIM:279000	Young Syndrome
OMIM:280000	CHIME syndrome
OMIM:300000	Opitz-Frias syndrome
OMIM:300004	Corpus Callosum, Agenesis Of, With Abnormal Genitalia
OMIM:300009	Dent disease type 1
OMIM:300018	46,Xy Sex Reversal 2
OMIM:300029	Retinitis pigmentosa 15
OMIM:300030	DFNX3
OMIM:300042	Alopecia, Congenital
OMIM:300046	MRX23
OMIM:300047	MRX20
OMIM:300048	Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
OMIM:300049	Heterotopia, Periventricular, X-Linked Dominant
OMIM:300055	Mental Retardation, X-Linked, Syndromic 13
OMIM:300062	MRX14
OMIM:300064	Mental Retardation, X-Linked, With Craniofacial Dysmorphism
OMIM:300066	Deafness, X-linked 4
OMIM:300067	Lissencephaly type 1 due to doublecortin gene mutation
OMIM:300068	Androgen Insensitivity Syndrome
OMIM:300071	Congenital stationary night blindness, type 2A
OMIM:300073	Fetal Akinesia Syndrome, X-Linked
OMIM:300076	X-linked immunoneurologic disorder
OMIM:300082	CGF1
OMIM:300085	CORDX2
OMIM:300088	Early infantile epileptic encephalopathy 9
OMIM:300100	Adrenoleukodystrophy
OMIM:300106	X-linked spondyloepimetaphyseal dysplasia
OMIM:300114	Mental retardation 49, X-linked
OMIM:300115	MRX50
OMIM:300123	Mental Retardation, X-Linked, With Panhypopituitarism
OMIM:300125	Migraine With or Without Aura, Susceptibility To, 2
OMIM:300143	Mental retardation 21, X-linked
OMIM:300147	HPCX1
OMIM:300148	Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
OMIM:300155	RP24
OMIM:300158	ACLLX
OMIM:300166	Oculofaciocardiodental syndrome
OMIM:300194	Amme Complex
OMIM:300200	Adrenal Hypoplasia, Congenital
OMIM:300209	Simpson-Golabi-Behmel syndrome, type 2
OMIM:300210	Mental Retardation, X-Linked 58
OMIM:300211	EMWX
OMIM:300215	Lissencephaly 2, X-linked
OMIM:300216	Coats disease
OMIM:300218	MRXS7
OMIM:300220	syndromic X-linked intellectual disability type 10
OMIM:300228	TGCT1
OMIM:300232	Spondyloepimetaphyseal Dysplasia, X-Linked, With Mental Deterioration
OMIM:300238	Mental Retardation, X-Linked, Syndromic 11
OMIM:300243	Mental Retardation, X-Linked, Syndromic, Christianson Type
OMIM:300244	Terminal Osseous Dysplasia
OMIM:300245	Ptosis, Hereditary Congenital 2
OMIM:300257	Danon disease
OMIM:300260	Lubs X-Linked Mental Retardation Syndrome
OMIM:300261	Armfield syndrome
OMIM:300262	MRXSAB
OMIM:300263	syndromic X-linked intellectual disability Siderius type
OMIM:300266	SPG16
OMIM:300270	Adrenomyodystrophy
OMIM:300271	Mental Retardation, X-Linked 72
OMIM:300273	MNG2
OMIM:300280	Uruguay Faciocardiomusculoskeletal Syndrome
OMIM:300291	Hypohidrotic ectodermal dysplasia with immunodeficiency
OMIM:300299	Neutropenia, Severe Congenital, X-Linked
OMIM:300301	Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
OMIM:300310	AGMX2
OMIM:300321	Fg Syndrome 2
OMIM:300322	Lesch-Nyhan syndrome
OMIM:300323	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
OMIM:300331	THCYTX
OMIM:300337	Hypomelanosis of Ito
OMIM:300345	Mycobacterium avium complex disease
OMIM:300352	creatine transporter deficiency
OMIM:300354	Syndromic X-linked mental retardation, Cabezas type
OMIM:300355	MRX73
OMIM:300367	Thrombocytopenia, X-Linked, With or Without Dyserythropoietic Anemia
OMIM:300373	osteopathia striata with cranial sclerosis
OMIM:300376	Becker muscular dystrophy
OMIM:300387	Mental Retardation, X-Linked 63
OMIM:300388	BPPX
OMIM:300400	gamma chain deficiency
OMIM:300419	Mental retardation, with or without seizures, ARX-related, X-linked
OMIM:300422	Fg Syndrome 4
OMIM:300423	Mental retardation, X-linked, syndromic, Hedera type
OMIM:300424	Retinitis Pigmentosa 23
OMIM:300425	Autism, Susceptibility To, X-Linked 1
OMIM:300431	Atkin-Flaitz syndrome
OMIM:300434	Stocco dos Santos syndrome
OMIM:300436	Mental retardation 46, X-linked
OMIM:300438	Hsd10 Mitochondrial Disease
OMIM:300448	Alpha-thalassemia-myelodysplastic syndrome
OMIM:300455	Primary ciliary dyskinesia-retinitis pigmentosa syndrome
OMIM:300471	Cubitus Valgus With Mental Retardation and Unusual Facies
OMIM:300472	Corpus Callosum, Agenesis Of, With Mental Retardation, Ocular Coloboma, and Micrognathia
OMIM:300475	Chromosome Xq28 deletion syndrome
OMIM:300476	Cone-Rod Dystrophy, X-Linked, 3
OMIM:300484	orofaciodigital syndrome VIII
OMIM:300486	Mental Retardation, X-Linked, With Cerebellar Hypoplasia and Distinctive Facial Appearance
OMIM:300489	X-linked distal spinal muscular atrophy type 3
OMIM:300491	Epilepsy, X-linked, with variable learning disabilities and behavior disorders
OMIM:300494	Asperger Syndrome, X-Linked, Susceptibility To, 1
OMIM:300495	Autism, Susceptibility To, X-Linked 2
OMIM:300496	Autism, Susceptibility To, X-Linked 3
OMIM:300497	Asperger syndrome X-linked 2
OMIM:300498	MRX45
OMIM:300500	X-linked recessive ocular albinism
OMIM:300510	Ovarian Dysgenesis 2
OMIM:300511	Premature Ovarian Failure 2A
OMIM:300514	Fanconi Anemia, Complementation Group B
OMIM:300519	MRXSMP
OMIM:300523	Allan-Herndon-Dudley syndrome
OMIM:300534	Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type
OMIM:300539	Nephrogenic syndrome of inappropriate antidiuresis
OMIM:300554	Hypophosphatemic rickets, X-linked recessive
OMIM:300555	Dent disease type 2
OMIM:300558	Mental Retardation, X-Linked 30
OMIM:300559	Glycogen storage disease due to muscle phosphorylase kinase deficiency
OMIM:300577	Mental Retardation, X-Linked 91
OMIM:300578	Chromosome Xp11.3 Deletion Syndrome
OMIM:300580	CFTDX
OMIM:300582	Short stature, idiopathic, X-linked
OMIM:300584	Immunodeficiency Without Anhidrotic Ectodermal Dysplasia
OMIM:300589	NYS5
OMIM:300590	Cornelia De Lange Syndrome 2
OMIM:300600	Aland Island eye disease
OMIM:300602	Clark-Baraitser Syndrome
OMIM:300604	Premature Ovarian Failure 2B
OMIM:300607	Epileptic Encephalopathy, Early Infantile, 8
OMIM:300612	Brooks-Wisniewski-Brown Syndrome
OMIM:300614	X-linked hereditary sensory and autonomic neuropathy with deafness
OMIM:300615	Monoamine oxidase A deficiency
OMIM:300619	Cataract, Ataxia, Short Stature, and Mental Retardation
OMIM:300622	Tn Polyagglutination Syndrome
OMIM:300623	Fragile 10 Tremor/Ataxia Syndrome
OMIM:300624	fragile X syndrome
OMIM:300633	Hypospadias 1, X-Linked
OMIM:300635	Lymphoproliferative Syndrome, X-Linked, 2
OMIM:300636	Familial atypical mycobacteriosis, type 1, X-linked
OMIM:300640	Invasive pneumococcal disease, recurrent isolated, 2
OMIM:300643	Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked
OMIM:300645	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
OMIM:300650	Albinism, Ocular, With Late-Onset Sensorineural Deafness
OMIM:300652	Angioma Serpiginosum, X-Linked
OMIM:300653	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
OMIM:300659	Mental Retardation, X-Linked 93
OMIM:300660	Leukoencephalopathy-metaphyseal chondrodysplasia syndrome
OMIM:300661	Phosphoribosylpyrophosphate Synthetase Superactivity
OMIM:300672	Epileptic Encephalopathy, Early Infantile, 2
OMIM:300673	Severe neonatal-onset encephalopathy with microcephaly
OMIM:300676	Mental retardation, syndromic 14, X-linked
OMIM:300679	chromosome Xp21 deletion syndrome
OMIM:300695	X-linked scapuloperoneal muscular dystrophy
OMIM:300696	Myopathy with postural muscle atrophy, X-linked
OMIM:300699	syndromic X-linked intellectual disability 94
OMIM:300700	Albinism-deafness syndrome
OMIM:300703	X-linked non progressive cerebellar ataxia
OMIM:300705	Chromosome Xp11.22 Duplication Syndrome
OMIM:300706	Mental Retardation, X-Linked, Syndromic, Turner Type
OMIM:300707	STAR syndrome
OMIM:300709	syndromic X-linked intellectual disability Shrimpton type
OMIM:300712	Craniofacioskeletal Syndrome
OMIM:300716	MRX95
OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe
OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset
OMIM:300719	Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities
OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia
OMIM:300750	hereditary spastic paraplegia 34
OMIM:300751	X-linked sideroblastic anemia
OMIM:300752	X-linked erythropoietic protoporphyria
OMIM:300755	Bruton-type agammaglobulinemia
OMIM:300758	Hypospadias 2, X-linked
OMIM:300770	Surfactant metabolism dysfunction, pulmonary, 4
OMIM:300778	Lisch epithelial corneal dystrophy
OMIM:300779	XECD
OMIM:300799	syndromic X-linked intellectual disability Raymond type
OMIM:300801	chromosome Xp11.23-p11.22 duplication syndrome
OMIM:300802	Mental Retardation, X-Linked 96
OMIM:300803	ZNF711-Related X-linked Mental Retardation
OMIM:300804	Joubert syndrome 10
OMIM:300807	Thrombophilia, X-linked, due to factor IX defect
OMIM:300813	synovial sarcoma
OMIM:300814	Nystagmus 6, congenital, X-linked
OMIM:300816	Combined Oxidative Phosphorylation Deficiency 6
OMIM:300818	Paroxysmal Nocturnal Hemoglobinuria 1
OMIM:300830	Autism, Susceptibility To, X-Linked 4
OMIM:300831	NSDHL-Related Disorders
OMIM:300833	46,Xx Sex Reversal 3
OMIM:300834	Macular Degeneration, X-Linked Atrophic
OMIM:300835	Anemia, X-Linked, With or Without Neutropenia And/Or Platelet Abnormalities
OMIM:300842	McLeod neuroacanthocytosis syndrome
OMIM:300843	BED
OMIM:300844	Mental Retardation, X-Linked 19
OMIM:300845	Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
OMIM:300848	MRX89
OMIM:300849	Mental Retardation, X-Linked 41
OMIM:300850	Mental Retardation, X-Linked 90
OMIM:300851	MRX92
OMIM:300852	MRX88
OMIM:300853	Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
OMIM:300854	Renal Cell Carcinoma, Xp11-Associated
OMIM:300855	Ogden syndrome
OMIM:300857	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
OMIM:300858	syndromic X-linked intellectual disability 17
OMIM:300860	Syndromic mental retardation, Nascimento type, X-linked
OMIM:300861	MRXSCS
OMIM:300863	Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia
OMIM:300864	X-linked intellectual disability, Kroes type
OMIM:300867	Kabuki Syndrome 2
OMIM:300868	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
OMIM:300869	Xq27.3q28 duplication syndrome
OMIM:300872	Autism, susceptibility to, X-linked 6
OMIM:300881	Baratela-Scott Syndrome
OMIM:300882	Cornelia De Lange Syndrome 5
OMIM:300884	Epileptic encephalopathy, early infantile, 36
OMIM:300886	Mental Retardation, X-Linked, Syndromic 32
OMIM:300887	Linear Skin Defects With Multiple Congenital Anomalies 2
OMIM:300888	Hypothyroidism, central, and testicular enlargement
OMIM:300894	neurodegeneration with brain iron accumulation 5
OMIM:300895	Ohdo Syndrome, X-Linked
OMIM:300896	SLC35A2-CDG
OMIM:300905	Charcot-Marie-Tooth disease X-linked dominant 6
OMIM:300908	Anemia, Nonspherocytic Hemolytic, Due to G6Pd Deficiency
OMIM:300909	Angioedema Induced by Ace Inhibitors, Susceptibility to
OMIM:300911	X-linked parkinsonism-spasticity syndrome
OMIM:300912	X-linked intellectual disability, Cantagrel type
OMIM:300914	Deafness, X-linked 6
OMIM:300915	Microphthalmia, syndromic 13
OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
OMIM:300919	Mental Retardation, X-Linked 99
OMIM:300923	Mental retardation, X-linked 100
OMIM:300928	Mental Retardation, X-Linked 101
OMIM:300934	Congenital Disorder of Glycosylation, Type Iy
OMIM:300942	X-linked acrogigantism due to Xq26 microduplication
OMIM:300943	Pituitary adenoma, growth hormone-secreting, 2
OMIM:300946	Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
OMIM:300952	Linear skin defects with multiple congenital anomalies 3
OMIM:300953	Trichothiodystrophy 5, nonphotosensitive
OMIM:300957	Mental Retardation, X-Linked 12
OMIM:300958	Mental Retardation, X-Linked 102
OMIM:300960	Mend Syndrome
OMIM:300963	Ritscher-Schinzel syndrome 2
OMIM:300966	Mental Retardation, X-Linked, Syndromic 33
OMIM:300967	Mental Retardation, X-Linked, Syndromic 34
OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted
OMIM:300971	Bartter syndrome, type 5, antenatal, transient
OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
OMIM:301000	Wiskott-Aldrich Syndrome
OMIM:301040	alpha thalassemia-X-linked intellectual disability syndrome
OMIM:301050	X-linked Alport syndrome
OMIM:301200	Amelogenesis imperfecta, type 1E
OMIM:301201	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
OMIM:301220	Pigmentary disorder, reticulate, with systemic manifestations, X-linked
OMIM:301310	Anemia sideroblastic and spinocerebellar ataxia
OMIM:301410	Neural Tube Defects, X-Linked
OMIM:301500	Fabry Disease
OMIM:301590	MCOPS4
OMIM:301700	Anosmia
OMIM:301790	X-linked spinocerebellar ataxia type 3
OMIM:301800	Anus, Imperforate
OMIM:301815	Contractures-ectodermal dysplasia-cleft lip/palate syndrome
OMIM:301830	X-linked distal arthrogryposis multiplex congenita
OMIM:301835	Arts syndrome
OMIM:301840	Spinocerebellar Ataxia, X-Linked 4
OMIM:301845	BZX
OMIM:301900	Borjeson-Forssman-Lehmann Syndrome
OMIM:301940	Brachydactyly, Mononen Type
OMIM:301950	X-linked mandibulofacial dysostosis
OMIM:302000	Bullous dystrophy, macular type
OMIM:302030	Calvarial Hyperostosis
OMIM:302045	dilated cardiomyopathy 3B
OMIM:302060	3-Methylglutaconic aciduria type 2
OMIM:302200	Cataract 40
OMIM:302350	Nance-Horan Syndrome
OMIM:302400	Central Incisors, Absence of
OMIM:302500	Spinocerebellar ataxia, X-linked 1
OMIM:302600	Spinocerebellar Ataxia, X-Linked 2
OMIM:302800	Charcot-Marie-Tooth disease X-linked dominant 1
OMIM:302801	CMTX2
OMIM:302802	CMTX3
OMIM:302803	Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, With Aplasia Cutis Congenita
OMIM:302900	Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined
OMIM:302905	Abruzzo Erickson syndrome
OMIM:302950	Chondrodysplasia Punctata 1, X-Linked Recessive
OMIM:302960	Chondrodysplasia Punctata 2, X-Linked Dominant
OMIM:303100	choroideremia
OMIM:303110	Choroideremia-deafness-obesity syndrome
OMIM:303350	Masa Syndrome
OMIM:303400	X-linked cleft palate with or without ankyloglossia
OMIM:303600	Coffin-Lowry Syndrome
OMIM:303650	Colonic atresia
OMIM:303700	Blue Cone Monochromacy
OMIM:303800	red-green color blindness
OMIM:303900	red color blindness
OMIM:304020	Cone-Rod Dystrophy, X-Linked, 1
OMIM:304030	Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
OMIM:304050	Aicardi syndrome
OMIM:304100	X-linked complicated corpus callosum dysgenesis
OMIM:304110	Craniofrontonasal Syndrome
OMIM:304120	Otopalatodigital syndrome type 2
OMIM:304150	Occipital Horn Syndrome
OMIM:304200	Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation
OMIM:304340	syndromic X-linked intellectual disability 5
OMIM:304350	Deafness-hypogonadism syndrome
OMIM:304400	Deafness, X-linked 2
OMIM:304500	Deafness, X-linked 1
OMIM:304700	Mohr-Tranebjaerg Syndrome
OMIM:304730	X-linked corneal dermoid
OMIM:304790	Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked
OMIM:304800	Diabetes Insipidus, Nephrogenic, X-Linked
OMIM:304900	Diabetes Insipidus, Neurohypophyseal Type
OMIM:304950	Dyggve-Melchior-Clausen Syndrome, X-Linked
OMIM:305000	Dyskeratosis congenita X-linked
OMIM:305100	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
OMIM:305200	X-linked Ehlers-Danlos syndrome
OMIM:305350	Epidermodysplasia Verruciformis, X-Linked
OMIM:305390	Familial exudative vitreoretinopathy, X-linked
OMIM:305400	Aarskog-Scott Syndrome
OMIM:305450	Opitz-Kaveggia Syndrome
OMIM:305550	Fingerprint Body Myopathy
OMIM:305600	Focal Dermal Hypoplasia
OMIM:305620	Frontometaphyseal dysplasia
OMIM:305690	Genitourinary Tract Anomalies
OMIM:305700	Spermatogenic Failure, X-Linked, 1
OMIM:305800	Membranoproliferative Glomerulonephritis, X-Linked
OMIM:306000	Glycogen Storage Disease Ixa1
OMIM:306300	Granulomas, Congenital Cerebral
OMIM:306400	Chronic granulomatous disease, X-linked
OMIM:306500	Moved to 312300
OMIM:306700	factor VIII deficiency
OMIM:306800	Hemophilia a With Vascular Abnormality
OMIM:306900	Hereditary factor IX deficiency disease
OMIM:306930	Hemopoietic Proliferation
OMIM:306950	Hernia, Anterior Diaphragmatic
OMIM:306955	Heterotaxy, Visceral, 1, X-Linked
OMIM:306960	Hhhh Syndrome
OMIM:306980	Hirschsprung Disease With Type D Brachydactyly
OMIM:306990	Holoprosencephaly-hypokinesia-congenital contractures syndrome
OMIM:307000	X-linked hydrocephalus syndrome
OMIM:307010	Hydrocephalus With Cerebellar Agenesis
OMIM:307030	glycerol kinase deficiency
OMIM:307150	X-linked congenital generalized hypertrichosis
OMIM:307200	Isolated Growth Hormone Deficiency, Type 3
OMIM:307300	Hypogonadism, Male
OMIM:307500	Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
OMIM:307700	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
OMIM:307800	Hypophosphatemic Rickets, X-Linked Dominant
OMIM:307830	Hypouricemia, Familial Renal, Due to Tubular Hypersecretion
OMIM:308050	Congenital Hemidysplasia With Ichthyosiform Erythroderma and Limb Defects
OMIM:308100	Ichthyosis, X-Linked
OMIM:308200	Ichthyosis and Male Hypogonadism
OMIM:308205	Ifap Syndrome With or Without Bresheck Syndrome
OMIM:308220	Immunodeficiency, X-Linked, With Deficiency of 115,000 Dalton Surface Glycoprotein
OMIM:308230	Immunodeficiency with hyper IgM type 1
OMIM:308240	Lymphoproliferative syndrome 1, X-linked
OMIM:308250	Immunoglobulin M, Level of
OMIM:308280	Impacted Teeth, Multiple
OMIM:308300	Incontinentia pigmenti syndrome
OMIM:308350	Epileptic Encephalopathy, Early Infantile, 1
OMIM:308500	Iris Hypoplasia With Glaucoma
OMIM:308600	Jaundice, Familial Obstructive, of Infancy
OMIM:308700	hypogonadotropic hypogonadism 1 with or without anosmia
OMIM:308750	Kallmann Syndrome With Spastic Paraplegia
OMIM:308800	Keratosis follicularis spinulosa decalvans
OMIM:308830	Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
OMIM:308850	Laryngeal Abductor Paralysis
OMIM:308905	Leber Optic Atrophy, Susceptibility to
OMIM:308940	X-linked diffuse leiomyomatosis-Alport syndrome
OMIM:308950	Lesch-Nyhan Phenotype With Normal Hgprt
OMIM:308960	Leukemia, Acute, ?X-Linked
OMIM:308990	Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
OMIM:309000	oculocerebrorenal syndrome
OMIM:309100	Macular Dystrophy, X-Linked
OMIM:309120	Spermatogenic failure, X-linked, 2
OMIM:309200	MAFD2
OMIM:309300	Isolated congenital megalocornea
OMIM:309350	Melnick-Needles Syndrome
OMIM:309400	Menkes Disease
OMIM:309480	Mental Retardation and Psoriasis
OMIM:309500	Renpenning syndrome
OMIM:309510	Partington syndrome
OMIM:309520	X-linked intellectual disability with marfanoid habitus
OMIM:309530	Mental Retardation, X-Linked 1
OMIM:309541	Methylmalonic Acidemia and Homocysteinemia, Cblx Type
OMIM:309545	MRXS12
OMIM:309548	Mental Retardation, X-Linked, Associated With Fragile Site Fraxe
OMIM:309549	Mental retardation 9, X-linked
OMIM:309555	Severe X-linked intellectual disability, Gustavson type
OMIM:309560	Paraplegia-intellectual disability-hyperkeratosis syndrome
OMIM:309580	Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
OMIM:309583	syndromic X-linked intellectual disability Snyder type
OMIM:309585	Wilson-Turner X-Linked Mental Retardation Syndrome
OMIM:309605	Miles-Carpenter syndrome
OMIM:309610	PRS
OMIM:309620	Skeletal dysplasia-intellectual disability syndrome
OMIM:309630	Syndactyly type 8
OMIM:309640	Mental Retardation With Spastic Paraplegia
OMIM:309800	Microphthalmia, Syndromic 1
OMIM:309801	Microphthalmia with linear skin defects syndrome
OMIM:309840	Modifier, X-Linked, for Neurofunctional Defects
OMIM:309900	mucopolysaccharidosis II
OMIM:309930	Muscular Dystrophy, Cardiac Type
OMIM:309950	Muscular Dystrophy, Hemizygous Lethal Type
OMIM:310000	Muscular Dystrophy, Mabry Type
OMIM:310095	Muscular Dystrophy, Progressive Pectorodorsal
OMIM:310200	Muscular Dystrophy, Duchenne Type
OMIM:310300	Emery-Dreifuss Muscular Dystrophy 1, X-Linked
OMIM:310350	Myelolymphatic Insufficiency
OMIM:310370	Myoclonic Epilepsy, Progressive
OMIM:310400	X-linked centronuclear myopathy
OMIM:310440	Myopathy, X-Linked, With Excessive Autophagy
OMIM:310460	MYP1
OMIM:310465	N syndrome
OMIM:310468	Nephrolithiasis, X-Linked Recessive, With Renal Failure
OMIM:310470	Neuropathy, Hereditary Sensory, X-Linked
OMIM:310490	Cowchock Syndrome
OMIM:310500	Congenital stationary night blindness, type 1A
OMIM:310600	Norrie disease
OMIM:310700	Infantile nystagmus, X-linked
OMIM:310800	Nystagmus, Myoclonic
OMIM:310900	Occipital Hair, White Lock of
OMIM:310980	Omphalocele, X-Linked
OMIM:311000	OPEM
OMIM:311050	Early-onset X-linked isolated optic atrophy
OMIM:311070	Charcot-Marie-Tooth disease X-linked recessive 5
OMIM:311100	Optic Atrophy--Spastic Paraplegia Syndrome
OMIM:311150	Moved to 304700
OMIM:311200	Oral-facial-digital syndrome
OMIM:311250	Ornithine carbamoyltransferase deficiency
OMIM:311300	Otopalatodigital syndrome type 1
OMIM:311360	Premature ovarian failure 1
OMIM:311400	Paine Syndrome
OMIM:311450	W syndrome
OMIM:311510	Early-onset parkinsonism-intellectual disability syndrome
OMIM:311895	Pierre Robin Sequence With Facial and Digital Anomalies
OMIM:311900	Tarp Syndrome
OMIM:312000	Panhypopituitarism, X-Linked
OMIM:312060	Properdin Deficiency, X-Linked
OMIM:312080	Pelizaeus-Merzbacher disease
OMIM:312100	Pseudohermaphroditism, Incomplete Male, Type 1
OMIM:312150	Multiple Pterygium Syndrome, X-Linked
OMIM:312170	Pyruvate dehydrogenase E1-alpha deficiency
OMIM:312190	Radial Aplasia, X-Linked
OMIM:312210	Radiation Sensitivity of Natural Killer Activity
OMIM:312300	Partial androgen insensitivity syndrome
OMIM:312500	Reticuloendotheliosis, X-Linked
OMIM:312550	X-linked retinal dysplasia
OMIM:312600	Retinitis pigmentosa 2
OMIM:312612	retinitis pigmentosa 6
OMIM:312700	Juvenile retinoschisis
OMIM:312750	Rett syndrome
OMIM:312780	Russell-Silver Syndrome, X-Linked
OMIM:312830	Scarf Syndrome
OMIM:312840	Schimke X-Linked Mental Retardation Syndrome
OMIM:312863	Combined Immunodeficiency, X-Linked
OMIM:312870	Simpson-Golabi-Behmel syndrome
OMIM:312910	Spastic paraparesis-deafness syndrome
OMIM:312920	Spastic Paraplegia 2, X-Linked
OMIM:313000	Spatial Visualization, Aptitude for
OMIM:313200	Spinal and Bulbar Muscular Atrophy, X-Linked 1
OMIM:313350	SHFM2
OMIM:313400	Spondyloepiphyseal dysplasia tarda
OMIM:313420	Spondylometaphyseal dysplasia, Golden type
OMIM:313490	Taurodontism, Microdontia, and Dens Invaginatus
OMIM:313500	Tooth Agenesis, Selective, X-Linked, 1
OMIM:313850	THAS
OMIM:313900	X-linked thrombocytopenia with normal platelets
OMIM:314000	Thrombocytopenia With Elevated Serum Iga and Renal Disease
OMIM:314050	Beta-thalassemia-X-linked thrombocytopenia syndrome
OMIM:314100	Thumbs, Congenital Clasped
OMIM:314250	X-linked dystonia-parkinsonism
OMIM:314300	TKCR
OMIM:314320	Trigonocephaly With Short Stature and Developmental Delay
OMIM:314360	Ulnar hypoplasia-split foot syndrome
OMIM:314380	Unique Green Phenomenon
OMIM:314390	VACTERL association with hydrocephaly, X-linked
OMIM:314400	Cardiac Valvular Dysplasia, X-Linked
OMIM:314500	Van Den Bosch Syndrome
OMIM:314550	Vesicoureteral Reflux, X-Linked
OMIM:314560	Von Willebrand Disease, X-Linked Form
OMIM:314570	Widow'S Peak Syndrome
OMIM:314580	Intellectual disability-developmental delay-contractures syndrome
OMIM:314600	Wildervanck Syndrome
OMIM:400042	Spermatogenic Failure, Y-Linked, 1
OMIM:400043	DFNY1
OMIM:400044	46,Xy Sex Reversal 1
OMIM:400045	46,Xx Sex Reversal 1
OMIM:415000	Spermatogenic Failure, Y-Linked, 2
OMIM:424500	gonadoblastoma
OMIM:425500	Hairy Ears, Y-Linked
OMIM:500001	Leber Optic Atrophy and Dystonia
OMIM:500002	Mitochondrial Myopathy With Diabetes
OMIM:500003	Striatonigral degeneration, infantile, mitochondrial
OMIM:500007	Cyclic Vomiting Syndrome
OMIM:500009	Mitochondrial Myopathy, Infantile, Transient
OMIM:502500	Alzheimer Disease, Susceptibility To, Mitochondrial
OMIM:515000	Chloramphenicol Toxicity
OMIM:520000	Diabetes-deafness syndrome maternally transmitted
OMIM:530000	Kearns-Sayre Syndrome
OMIM:535000	Leber's optic atrophy
OMIM:540000	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes
OMIM:545000	Myoclonus with epilepsy with ragged red fibers
OMIM:550500	Myoglobinuria, Recurrent
OMIM:551000	Lethal infantile mitochondrial myopathy
OMIM:551500	Neuropathy, Ataxia, and Retinitis Pigmentosa
OMIM:553000	Oxyphilic adenoma
OMIM:557000	Pearson syndrome
OMIM:560000	Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia
OMIM:580000	Deafness, Aminoglycoside-Induced
OMIM:598500	Wolfram Syndrome, Mitochondrial Form
OMIM:600000	Spondylocamptodactyly syndrome
OMIM:600001	Pancreatic agenesis and congenital heart disease
OMIM:600002	Eiken syndrome
OMIM:600057	bladder exstrophy
OMIM:600059	Retinitis Pigmentosa 13
OMIM:600060	Deafness, autosomal recessive 2
OMIM:600072	fatal familial insomnia
OMIM:600080	familial chronic myelocytic leukemia-like syndrome
OMIM:600081	Vitamin d hydroxylation-deficient rickets, type 1b
OMIM:600082	BPH
OMIM:600084	Macrocytosis, Familial
OMIM:600089	Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
OMIM:600092	Chondrodysplasia-Pseudohermaphroditism Syndrome
OMIM:600093	Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies
OMIM:600096	Puerto Rican Infant Hypotonia Syndrome
OMIM:600101	Deafness, Autosomal Dominant 2A
OMIM:600105	Retinitis Pigmentosa 12
OMIM:600110	Stargardt Disease 3
OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile
OMIM:600117	Familial developmental dysphasia
OMIM:600118	Warburg Micro Syndrome 1
OMIM:600121	Rhizomelic Chondrodysplasia Punctata, Type 3
OMIM:600122	Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
OMIM:600123	Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
OMIM:600131	Epilepsy, childhood absence 1
OMIM:600132	Retinitis Pigmentosa 14
OMIM:600138	Retinitis Pigmentosa 11
OMIM:600142	Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts and Leukoencephalopathy
OMIM:600143	Ceroid lipofuscinosis neuronal 8
OMIM:600145	Familial caudal dysgenesis
OMIM:600151	Bardet-Biedl Syndrome 3
OMIM:600155	Hirschsprung disease 2
OMIM:600156	HSCR5
OMIM:600159	Pterygium colli-intellectual disability-digital anomalies syndrome
OMIM:600165	NNO1
OMIM:600166	Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia
OMIM:600171	Gonadal Agenesis
OMIM:600175	Autosomal dominant congenital benign spinal muscular atrophy
OMIM:600176	Pachygyria With Mental Retardation, Seizures, and Arachnoid Cysts
OMIM:600193	WS2B
OMIM:600195	Venous Malformations, Multiple Cutaneous and Mucosal
OMIM:600202	DYX2
OMIM:600204	Multiple epiphyseal dysplasia 2
OMIM:600208	Macrothrombocytopenia and progressive sensorineural deafness
OMIM:600209	EXT3
OMIM:600223	SCA4
OMIM:600224	spinocerebellar ataxia type 5
OMIM:600231	Palmoplantar Keratoderma, Bothnian Type
OMIM:600251	Oculomaxillofacial dysostosis
OMIM:600252	Lowry-MacLean syndrome
OMIM:600257	Chromosome 8Q12.1-Q21.2 Deletion Syndrome
OMIM:600263	Helicobacter pylori infection, susceptibility to
OMIM:600268	Toriello-Lacassie-Droste syndrome
OMIM:600269	Short tarsus-absence of lower eyelashes syndrome
OMIM:600273	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
OMIM:600274	Frontotemporal Dementia
OMIM:600302	Macrocephaly-spastic paraplegia-dysmorphism syndrome
OMIM:600309	Atrioventricular septal defect and common atrioventricular junction
OMIM:600316	Deafness, autosomal recessive 3
OMIM:600325	Pseudoaminopterin syndrome
OMIM:600329	Infantile osteopetrosis with neuroaxonal dysplasia
OMIM:600331	Parc Syndrome
OMIM:600332	RMD1
OMIM:600333	Motor Neuron Disease With Dementia and Ophthalmoplegia
OMIM:600334	Tibial muscular dystrophy
OMIM:600335	Succinic Acidemia
OMIM:600343	PDDP
OMIM:600348	Band Heterotopia of Brain
OMIM:600351	Enteropathy, Familial, With Villous Edema and Immunoglobulin G2 Deficiency
OMIM:600356	Pachydermodactyly, Familial
OMIM:600360	Recessive aplasia cutis congenita of limbs
OMIM:600361	Charcot-Marie-Tooth disease type 5
OMIM:600363	hereditary spastic paraplegia 6
OMIM:600373	Codas Syndrome
OMIM:600376	Hereditary hemorrhagic telangiectasia type 2
OMIM:600383	Mesomelia-Synostoses Syndrome
OMIM:600384	Aphalangia, Partial, With Syndactyly and Duplication of Metatarsal 4
OMIM:600399	Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails
OMIM:600416	Muscular Dystrophy, Scapulohumeral
OMIM:600419	Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas
OMIM:600430	Chromosome 2Q37 Deletion Syndrome
OMIM:600457	Hypertrichosis, Anterior Cervical
OMIM:600458	Adenomyosis
OMIM:600459	Arterial dissection-lentiginosis syndrome
OMIM:600460	Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly
OMIM:600461	Lethal hemolytic anemia-genital anomalies syndrome
OMIM:600462	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1
OMIM:600467	Malignant Hyperthermia, Susceptibility To, 4
OMIM:600496	Maturity-onset diabetes of the young, type 3
OMIM:600501	Abcd Syndrome
OMIM:600510	GPDS1
OMIM:600511	SCZD3
OMIM:600512	Epilepsy, Familial Temporal Lobe, 1
OMIM:600513	Epilepsy, nocturnal frontal lobe, type 1
OMIM:600546	Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
OMIM:600559	Hydrocephalus, Endocardial Fibroelastosis, and Cataracts
OMIM:600561	Spondyloepiphyseal dysplasia, Reardon type
OMIM:600593	CRSA
OMIM:600598	Setting-Sun Phenomenon, Familial Benign
OMIM:600624	CORD1
OMIM:600625	Orofacial cleft 11
OMIM:600627	Hypertryptophanemia, Familial
OMIM:600628	Loose Anagen Hair Syndrome
OMIM:600630	UV-sensitive syndrome
OMIM:600631	ENUR1
OMIM:600634	Pituitary Adenoma, Prolactin-Secreting
OMIM:600638	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
OMIM:600643	Caroli Disease, Isolated
OMIM:600649	Carnitine Palmitoyltransferase 2 Deficiency, Infantile
OMIM:600652	Deafness, Autosomal Dominant 4A
OMIM:600666	Polycystic Kidney Disease 3
OMIM:600668	CCAL1
OMIM:600669	EIG
OMIM:600670	Varicella, Severe Recurrent
OMIM:600674	Microtia-Anotia
OMIM:600679	Dermoid Cysts, Familial Frontonasal
OMIM:600705	Satoyoshi Syndrome
OMIM:600706	Proximal Myopathy With Focal Depletion of Mitochondria
OMIM:600721	D-2-Hydroxyglutaric Aciduria 1
OMIM:600736	Velofacioskeletal Syndrome
OMIM:600737	Moved to 605820
OMIM:600740	Hypocalciuric hypercalcemia, familial, type III
OMIM:600757	OFC3
OMIM:600771	Dwarfism, Familial, With Muscle Spasms
OMIM:600775	Craniosynostosis 4
OMIM:600776	Anophthalmia plus syndrome
OMIM:600785	VDDR2B
OMIM:600790	Chorioretinal Atrophy, Progressive Bifocal
OMIM:600791	autosomal recessive nonsyndromic deafness 4
OMIM:600792	DFNB5
OMIM:600794	Distal hereditary motor neuronopathy type 5
OMIM:600795	Frontotemporal Dementia, Chromosome 3-Linked
OMIM:600802	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative
OMIM:600803	Gallbladder Disease 1
OMIM:600807	Asthma, susceptibility to
OMIM:600808	ENUR2
OMIM:600850	Schizophrenia 4
OMIM:600852	retinitis pigmentosa 17
OMIM:600858	Cardiomyopathy, Familial Hypertrophic, 6
OMIM:600880	Budd-Chiari syndrome
OMIM:600881	Cataract, congenital zonular, with sutural opacities
OMIM:600882	Charcot-Marie-Tooth disease type 2B
OMIM:600884	dilated cardiomyopathy 1B
OMIM:600886	Hereditary hyperferritinemia with congenital cataracts
OMIM:600901	Fanconi Anemia, Complementation Group E
OMIM:600903	Wiskott-Aldrich Syndrome, Autosomal Dominant Form
OMIM:600906	Ectodermal Dysplasia With Mental Retardation and Syndactyly
OMIM:600907	Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
OMIM:600908	Agonadism, 46,Xy, With Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
OMIM:600919	Cardiac arrhythmia, ankyrin B-related
OMIM:600920	Van den Ende-Gupta syndrome
OMIM:600955	Proprotein convertase 1/3 deficiency
OMIM:600962	Palmoplantar Keratoderma, Nonepidermolytic
OMIM:600965	autosomal dominant nonsyndromic deafness 6
OMIM:600969	Multiple epiphyseal dysplasia 3
OMIM:600971	Deafness, autosomal recessive 6
OMIM:600972	achondrogenesis type IB
OMIM:600974	autosomal recessive nonsyndromic deafness 7
OMIM:600975	GLC3B
OMIM:600977	Cone-Rod Dystrophy 5
OMIM:600987	Cleft Palate, Cardiac Defects, and Mental Retardation
OMIM:600989	Infundibulopelvic stenosis-multicystic kidney syndrome
OMIM:600991	Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
OMIM:600994	autosomal dominant nonsyndromic deafness 5
OMIM:600995	Nephrotic Syndrome, Type 2
OMIM:600996	arrhythmogenic right ventricular dysplasia 2
OMIM:601001	Epidermolysis bullosa simplex, autosomal recessive
OMIM:601003	Brody myopathy
OMIM:601004	Portal Vein, Cavernous Transformation of
OMIM:601005	Timothy Syndrome
OMIM:601016	Midline Malformations, Multiple, With Limb Abnormalities and Hypopituitarism
OMIM:601027	Tibia, Absence or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
OMIM:601039	Ichthyosis-Mental Retardation Syndrome With Large Keratohyalin Granules 1N the Skin
OMIM:601042	Dystonia 9
OMIM:601067	Usher syndrome type 1D
OMIM:601068	FAME1
OMIM:601071	autosomal recessive nonsyndromic deafness 9
OMIM:601072	autosomal recessive nonsyndromic deafness 8
OMIM:601075	Aplasia cutis-myopia syndrome
OMIM:601076	Mayer-Rokitansky-KC<ster-Hauser syndrome type 2
OMIM:601086	Laterality Defects, Autosomal Dominant
OMIM:601088	Ayme-gripp syndrome
OMIM:601095	Harrod syndrome
OMIM:601096	Micromelic dwarfism, Fryns type
OMIM:601098	Charcot-Marie-Tooth disease type 1C
OMIM:601104	Classic progressive supranuclear palsy syndrome
OMIM:601110	ALG3-CDG
OMIM:601127	Fallot Complex With Severe Mental and Growth Retardation
OMIM:601144	Brugada Syndrome 1
OMIM:601152	Neuropathy, Hereditary Motor and Sensory, Type 6A
OMIM:601154	dilated cardiomyopathy 1E
OMIM:601160	Lissencephaly Type 3 and Bone Dysplasia
OMIM:601161	Trisomy 18-Like Syndrome
OMIM:601162	hereditary spastic paraplegia 9A
OMIM:601163	Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull
OMIM:601165	Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease
OMIM:601170	Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers
OMIM:601186	Microphthalmia syndromic 9
OMIM:601187	Gurrieri Syndrome
OMIM:601195	Iron Overload 1N Africa
OMIM:601198	Hypocalcemia, Autosomal Dominant 1
OMIM:601200	Pleuropulmonary Blastoma
OMIM:601202	cataract 24
OMIM:601214	Naxos Disease
OMIM:601216	Brachyolmia-amelogenesis imperfecta syndrome
OMIM:601217	Alopecia-Mental Retardation Syndrome With Convulsions and Hypergonadotropic Hypogonadism
OMIM:601220	Osteoporosis and Oculocutaneous Hypopigmentation Syndrome
OMIM:601223	Neuronal Intestinal Dysplasia, Type B
OMIM:601224	Potocki-Shaffer syndrome
OMIM:601228	Polyposis Syndrome, Hereditary Mixed, 1
OMIM:601230	Dermatitis Herpetiformis, Familial
OMIM:601238	Cayman type cerebellar ataxia
OMIM:601277	Ichthyosis, Congenital, Autosomal Recessive 4A
OMIM:601287	Muscular Dystrophy, Limb-Girdle, Type 2F
OMIM:601316	Deafness, Autosomal Dominant 10
OMIM:601317	Deafness, autosomal dominant 11
OMIM:601319	Odontomicronychial Dysplasia
OMIM:601321	Neurofibromatosis-Noonan syndrome
OMIM:601322	Porencephaly-cerebellar hypoplasia-internal malformations syndrome
OMIM:601331	Renal Dysplasia, Cystic, Susceptibility to
OMIM:601338	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
OMIM:601341	Atrophia Maculosa Varioliformis Cutis, Familial
OMIM:601344	Spinal Dysplasia, Anhalt Type
OMIM:601345	Ectodermal dysplasia with natal teeth, Turnpenny type
OMIM:601346	Martinez-Frias Syndrome
OMIM:601347	Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
OMIM:601348	Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia
OMIM:601349	MMEP syndrome
OMIM:601350	Short Stature Syndrome, Brussels Type
OMIM:601351	Deafness-epiphyseal dysplasia-short stature syndrome
OMIM:601352	Epilepsy-microcephaly-skeletal dysplasia syndrome
OMIM:601353	Fine-Lubinsky syndrome
OMIM:601355	Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs
OMIM:601356	Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
OMIM:601357	ACLH
OMIM:601358	Nicolaides-Baraitser Syndrome
OMIM:601360	Amelia, Autosomal Recessive
OMIM:601362	Distal monosomy 10p
OMIM:601363	WT4
OMIM:601367	Stroke, Ischemic
OMIM:601369	Deafness, autosomal dominant 9
OMIM:601370	Holoprosencephaly, Semilobar, With Craniosynostosis
OMIM:601371	Cataract, Age-Related Nuclear
OMIM:601372	Chorea, Remitting, With Nystagmus and Cataract
OMIM:601374	Aprosencephaly cerebellar dysgenesis
OMIM:601375	Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
OMIM:601376	Lethal chondrodysplasia, Seller type
OMIM:601379	Hunter-McAlpine craniosynostosis
OMIM:601382	Charcot-Marie-Tooth disease type 4B1
OMIM:601386	autosomal recessive nonsyndromic deafness 12
OMIM:601389	Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction
OMIM:601390	Cerebro-facio-articular syndrome
OMIM:601399	Familial platelet disorder with associated myeloid malignancy
OMIM:601410	Transient neonatal diabetes mellitus 1
OMIM:601412	autosomal dominant nonsyndromic deafness 7
OMIM:601414	retinitis pigmentosa 18
OMIM:601419	Myofibrillar myopathy 1
OMIM:601420	Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/Palate
OMIM:601427	Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis
OMIM:601438	Rhizomelic Dysplasia, Patterson-Lowry Type
OMIM:601449	Progressive deafness with stapes fixation
OMIM:601450	Dislocation of the hip-dysmorphism syndrome
OMIM:601453	Trichodental Dysplasia
OMIM:601455	Charcot-Marie-Tooth Disease, Type 4D
OMIM:601457	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
OMIM:601462	Myasthenic Syndrome, Congenital, 1A, Slow-Channel
OMIM:601466	Patent Ductus Venosus
OMIM:601471	Isolated hereditary congenital facial paralysis
OMIM:601472	Charcot-Marie-Tooth Disease, Axonal, Type 2D
OMIM:601477	Ribbing Disease
OMIM:601492	mucopolysaccharidosis IX
OMIM:601493	Cardiomyopathy, Dilated, 1C, With or Without Left Ventricular Noncompaction
OMIM:601494	dilated cardiomyopathy 1D
OMIM:601495	Agammaglobulinemia, non-Bruton type
OMIM:601499	Axenfeld-Rieger syndrome type 2
OMIM:601518	Prostate cancer, hereditary, 1
OMIM:601536	Athabaskan Brainstem Dysgenesis Syndrome
OMIM:601539	Peroxisome biogenesis disorder 1B
OMIM:601543	Deafness, autosomal dominant 12
OMIM:601544	Deafness, Autosomal Dominant 3A
OMIM:601547	Cataract 3, multiple types
OMIM:601549	Alacrima, Congenital, Autosomal Recessive
OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
OMIM:601553	Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
OMIM:601559	Stuve-Wiedemann Syndrome
OMIM:601560	Multiple epiphyseal dysplasia, Lowry type
OMIM:601561	Dyssegmental dysplasia-glaucoma syndrome
OMIM:601583	Wilms Tumor 5
OMIM:601596	Charcot-Marie-Tooth disease type 4C
OMIM:601606	Familial multiple trichoepitheliomata
OMIM:601608	Spastic Paraplegia and Evans Syndrome
OMIM:601612	LACHT
OMIM:601616	Iris Pigment Epithelium Anomalies
OMIM:601626	Leukemia, Acute Myeloid
OMIM:601631	Anterior Segment Dysgenesis 3
OMIM:601634	Neural tube defects, folate-sensitive
OMIM:601650	Paragangliomas 2
OMIM:601665	Obesity
OMIM:601666	type 1 diabetes mellitus 15
OMIM:601668	Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
OMIM:601675	Trichothiodystrophy 1, photosensitive
OMIM:601678	Bartter disease type 1
OMIM:601680	Arthrogryposis, Distal, Type 2B
OMIM:601682	GLC1C
OMIM:601696	Novelty Seeking Personality Trait
OMIM:601700	Sebaceous Gland Hyperplasia, Familial Presenile
OMIM:601701	Tricho-oculo-dermo-vertebral syndrome
OMIM:601705	T-cell immunodeficiency, congenital alopecia and nail dystrophy
OMIM:601706	Deaf blind hypopigmentation syndrome, Yemenite type
OMIM:601707	Curry-Jones syndrome
OMIM:601708	Superior Transverse Scapular Ligament, Calcification Of, Familial
OMIM:601709	Quebec platelet disorder
OMIM:601718	retinitis pigmentosa 19
OMIM:601759	Preaxial Hallucal Polydactyly
OMIM:601764	BFIS1
OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type
OMIM:601777	Cone-Rod Dystrophy 6
OMIM:601780	Ceroid lipofuscinosis neuronal 6
OMIM:601794	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
OMIM:601803	Tetrasomy 12p
OMIM:601808	Chromosome 18Q Deletion Syndrome
OMIM:601809	Spondylospinal Thoracic Dysostosis
OMIM:601811	Premature Aging Syndrome, Okamoto Type
OMIM:601812	Acroosteolysis-keloid-like lesions-premature aging syndrome
OMIM:601813	Exudative Vitreoretinopathy 4
OMIM:601815	Phosphoglycerate Dehydrogenase Deficiency
OMIM:601820	Islet cell hyperplasia
OMIM:601829	Acrofacial Dysostosis, Palagonia Type
OMIM:601846	Vacuolar Neuromyopathy
OMIM:601847	Cholestasis, Progressive Familial Intrahepatic, 2
OMIM:601853	GLHS
OMIM:601859	Autoimmune lymphoproliferative syndrome
OMIM:601868	Deafness, autosomal dominant 13
OMIM:601869	Deafness, autosomal recessive 15
OMIM:601885	cataract 14 multiple types
OMIM:601894	Glomerulopathy With Fibronectin Deposits 2
OMIM:601927	Lymphedema, Cardiac Septal Defects, and Characteristic Facies
OMIM:601941	type 1 diabetes mellitus 6
OMIM:601942	Diabetes Mellitus, Insulin-Dependent, 10
OMIM:601952	Keratosis Linearis With Ichthyosis Congenita and Sclerosing Keratoderma
OMIM:601954	Muscular Dystrophy, Limb-Girdle, Type 2G
OMIM:601957	Odontotrichoungual-Digital-Palmar Syndrome
OMIM:601976	Otofacioosseous-Gonadal Syndrome
OMIM:601977	Thrombocythemia 2
OMIM:601979	Hyperzincemia With Functional Zinc Depletion
OMIM:601992	FRDA2
OMIM:602014	Hypomagnesemia 1, Intestinal
OMIM:602025	Obesity due to MC3R deficiency
OMIM:602032	Ectodermal dysplasia, 'pure' hair-nail type
OMIM:602066	Infantile convulsions and paroxysmal choreoathetosis, familial
OMIM:602068	Leishmaniasis, Tegumentary, Susceptibility to
OMIM:602071	Broad Terminal Phalanges, Familial
OMIM:602078	Fibrosis of Extraocular Muscles, Congenital, 2
OMIM:602079	Trimethylaminuria
OMIM:602080	Paget Disease of Bone 2, Early-Onset
OMIM:602081	Speech-Language Disorder 1
OMIM:602082	Thiel-Behnke corneal dystrophy
OMIM:602083	Usher syndrome type 1F
OMIM:602085	PAPA2
OMIM:602086	arrhythmogenic right ventricular dysplasia 3
OMIM:602087	arrhythmogenic right ventricular dysplasia 4
OMIM:602088	Nephronophthisis 2
OMIM:602089	Hemangioma, capillary infantile
OMIM:602092	autosomal recessive nonsyndromic deafness 18A
OMIM:602093	Cone dystrophy 3
OMIM:602096	Alzheimer Disease 5
OMIM:602097	Usher syndrome type 1E
OMIM:602099	Amyotrophic Lateral Sclerosis 5, Juvenile
OMIM:602107	Hereditary thermosensitive neuropathy
OMIM:602111	spondyloepimetaphyseal dysplasia, Missouri type
OMIM:602114	Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
OMIM:602124	DYT7
OMIM:602134	ETM2
OMIM:602152	Rhyns Syndrome
OMIM:602196	Pierre Robin Sequence With Pectus Excavatum and Rib and Scapular Anomalies
OMIM:602197	Cerebellar Degeneration-Related Autoantigen 3
OMIM:602199	Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
OMIM:602200	Ventriculomegaly With Defects of the Radius and Kidney
OMIM:602247	Xanthomatosis, Susceptibility to
OMIM:602248	Malignant Atrophic Papulosis
OMIM:602249	Progeroid Facial Appearance With Hand Anomalies
OMIM:602271	Spondylometaphyseal dysplasia axial
OMIM:602342	Pierpont syndrome
OMIM:602347	Cholestasis, Progressive Familial Intrahepatic, 3
OMIM:602361	Gracile Bone Dysplasia
OMIM:602390	Hemochromatosis, Type 2A
OMIM:602398	Desmosterolosis
OMIM:602400	Ichthyosis, congenital, autosomal recessive 11
OMIM:602401	ECTD8
OMIM:602418	Weyers Ulnar Ray/Oligodactyly Syndrome
OMIM:602433	Amyotrophic lateral sclerosis type 4
OMIM:602440	Amyotrophy, Monomelic
OMIM:602450	severe combined immunodeficiency with sensitivity to ionizing radiation
OMIM:602459	Deafness, Autosomal Dominant 15
OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities
OMIM:602473	Encephalopathy, Ethylmalonic
OMIM:602475	OPLL
OMIM:602477	FEB2
OMIM:602481	Familial hemiplegic migraine type 2
OMIM:602482	Axenfeld-Rieger syndrome type 3
OMIM:602483	Auriculocondylar Syndrome 1
OMIM:602484	Pelvic Hypoplasia With Lower-Limb Arthrogryposis
OMIM:602485	Hyperinsulinemic hypoglycemia familial 3
OMIM:602501	Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
OMIM:602522	Bartter disease type 4a
OMIM:602531	Grange syndrome
OMIM:602535	Marshall-Smith Syndrome
OMIM:602540	Hystrix-like ichthyosis with deafness
OMIM:602541	Muscular dystrophy, congenital, megaconial type
OMIM:602553	Distal monosomy 13q
OMIM:602554	Torsion Dystonia With Onset 1N Infancy
OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
OMIM:602562	Mandibulofacial Dysostosis With Macroblepharon and Macrostomia
OMIM:602579	Congenital Disorder of Glycosylation, Type Ib
OMIM:602588	Branchiootic Syndrome 1
OMIM:602613	Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal
OMIM:602629	torsion dystonia 6
OMIM:602668	myotonic dystrophy type 2
OMIM:602722	Renal tubular acidosis, distal, autosomal recessive
OMIM:602723	Psoriasis 2
OMIM:602771	Rigid Spine Muscular Dystrophy 1
OMIM:602772	Retinitis Pigmentosa 25
OMIM:602782	Histiocytosis-Lymphadenopathy Plus Syndrome
OMIM:602849	Muenke syndrome
OMIM:602875	Acromesomelic dysplasia Maroteaux type
OMIM:603003	choledochal cyst
OMIM:603010	DFNB17
OMIM:603034	Endplate acetylcholinesterase deficiency
OMIM:603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
OMIM:603047	astigmatism
OMIM:603075	Age-related macular degeneration 1
OMIM:603116	Craniosynostosis-anal anomalies-porokeratosis syndrome
OMIM:603147	Congenital Disorder of Glycosylation, Type Ic
OMIM:603165	Dermatitis, Atopic
OMIM:603194	Meckel Syndrome, Type 2
OMIM:603204	ENFL2
OMIM:603218	Huntington disease-like 1
OMIM:603221	MYP3
OMIM:603233	Pseudohypoparathyroidism, Type 1B
OMIM:603278	Focal Segmental Glomerulosclerosis 1
OMIM:603284	Cerebral Cavernous Malformations 2
OMIM:603285	Cerebral Cavernous Malformations 3
OMIM:603358	Gracile Syndrome
OMIM:603373	Hyperthyroidism, Familial Gestational
OMIM:603383	Glaucoma 1, Open Angle, F
OMIM:603387	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
OMIM:603438	Radioulnar synostosis-microcephaly-scoliosis syndrome
OMIM:603457	Bosma Arhinia Microphthalmia Syndrome
OMIM:603463	Hypospadias-hypertelorism-coloboma and deafness syndrome
OMIM:603467	Fanconi Anemia, Complementation Group F
OMIM:603471	Citrullinemia, Type Ii, Adult-Onset
OMIM:603472	Neuronal Intranuclear Inclusion Disease
OMIM:603511	Muscular Dystrophy, Limb-Girdle, Type 1E
OMIM:603513	Cerebral Palsy, Spastic Quadriplegic, 1
OMIM:603516	Spinocerebellar ataxia 10
OMIM:603529	Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
OMIM:603543	Limb-Mammary Syndrome
OMIM:603546	Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
OMIM:603552	familial hemophagocytic lymphohistiocytosis 4
OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2
OMIM:603554	Omenn Syndrome
OMIM:603563	hereditary spastic paraplegia 8
OMIM:603585	SLC35A1-CDG
OMIM:603622	Deafness, Autosomal Dominant 17
OMIM:603629	autosomal recessive nonsyndromic deafness 21
OMIM:603641	Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia
OMIM:603649	Cone-Rod Dystrophy 7
OMIM:603671	acromelic frontonasal dysostosis
OMIM:603688	Prostate cancer/brain cancer susceptibility
OMIM:603689	Hereditary Myopathy With Early Respiratory Failure
OMIM:603720	Deafness, autosomal recessive 16
OMIM:603736	blepharophimosis-intellectual disability syndrome, SBBYS type
OMIM:603776	Hypercholesterolemia, autosomal dominant, 3
OMIM:603786	Stargardt Disease 4
OMIM:603813	Hypercholesterolemia, Autosomal Recessive
OMIM:603829	Paroxysmal familial ventricular fibrillation 1
OMIM:603830	Long Qt Syndrome 3
OMIM:603855	CFM1
OMIM:603860	Medullary cystic kidney disease 2
OMIM:603896	Leukoencephalopathy With Vanishing White Matter
OMIM:603902	Beta-Thalassemia, Dominant Inclusion Body Type
OMIM:603903	Sickle Cell Anemia
OMIM:603909	Autoimmune Lymphoproliferative Syndrome, Type 2A
OMIM:603956	Cervical Cancer
OMIM:603964	DFNA16
OMIM:603965	Focal Segmental Glomerulosclerosis 2
OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1
OMIM:604060	autosomal recessive nonsyndromic deafness 20
OMIM:604091	Familial hypoalphalipoproteinemia
OMIM:604116	Cone-rod dystrophy 3
OMIM:604117	Vohwinkel Syndrome, Variant Form
OMIM:604121	Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant
OMIM:604129	Dystrophic epidermolysis bullosa pruriginosa
OMIM:604131	alpha Thalassemia
OMIM:604145	Cardiomyopathy, Dilated, 1G
OMIM:604168	Congenital cataracts-facial dysmorphism-neuropathy syndrome
OMIM:604169	Left Ventricular Noncompaction 1
OMIM:604173	Poikiloderma With Neutropenia
OMIM:604185	HCFP2
OMIM:604187	Spastic Paraplegia 10, Autosomal Dominant
OMIM:604213	Chudley-McCullough syndrome
OMIM:604218	familial encephalopathy with neuroserpin inclusion bodies
OMIM:604219	Cataract, autosomal dominant
OMIM:604229	Anterior Segment Dysgenesis 5
OMIM:604232	Leber congenital amaurosis 3
OMIM:604233	Generalized epilepsy with febrile seizures plus, type 1
OMIM:604250	Hemochromatosis, Type 3
OMIM:604271	Short stature due to partial GHR deficiency
OMIM:604273	mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
OMIM:604278	Renal Tubular Acidosis, Proximal, With Ocular Abnormalities and Mental Retardation
OMIM:604286	Limb-girdle muscular dystrophy, type 2E
OMIM:604287	Carney triad
OMIM:604290	Aceruloplasminemia
OMIM:604292	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
OMIM:604302	Rheumatoid Arthritis, Systemic Juvenile
OMIM:604307	cataract 2 multiple types
OMIM:604308	MASS syndrome
OMIM:604314	Blepharophimosis-intellectual disability syndrome, Verloes type
OMIM:604317	Primary autosomal recessive microcephaly 2
OMIM:604320	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
OMIM:604321	Primary autosomal recessive microcephaly 4
OMIM:604326	Spinocerebellar Ataxia 12
OMIM:604335	Reflex Sympathetic Dystrophy
OMIM:604348	Advanced Sleep Phase Syndrome, Familial, 1
OMIM:604352	Febrile seizures, familial, 4
OMIM:604356	Duane Retraction Syndrome 2
OMIM:604360	hereditary spastic paraplegia 11
OMIM:604364	Epilepsy, familial focal, with variable foci 1
OMIM:604367	PPARG-related familial partial lipodystrophy
OMIM:604369	Salla Disease
OMIM:604370	Breast-Ovarian Cancer, Familial, Susceptibility To, 1
OMIM:604377	Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1
OMIM:604379	hypotrichosis 7
OMIM:604381	Patent Ductus Arteriosus and Bicuspid Aortic Valve With Hand Anomalies
OMIM:604387	Adolescent nephronophthisis
OMIM:604391	Ataxia-Telangiectasia-Like Disorder 1
OMIM:604393	Leber congenital amaurosis 4
OMIM:604400	Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
OMIM:604401	arrhythmogenic right ventricular dysplasia 6
OMIM:604403	Generalized Epilepsy With Febrile Seizures Plus, Type 2
OMIM:604416	Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne
OMIM:604432	Spinocerebellar Ataxia 11
OMIM:604454	Distal myopathy, Welander type
OMIM:604484	Neuropathy, Hereditary Motor and Sensory, Okinawa Type
OMIM:604498	Amegakaryocytic Thrombocytopenia, Congenital
OMIM:604536	Epidermolysis bullosa simplex due to plakophilin deficiency
OMIM:604537	Leber congenital amaurosis 5
OMIM:604559	Progressive Familial Heart Block, Type 1B
OMIM:604563	Charcot-Marie-Tooth Disease, Type 4B2
OMIM:604571	Bare lymphocyte syndrome type 1
OMIM:604625	Tooth Agenesis, Selective, 3
OMIM:604715	Orthostatic Intolerance
OMIM:604717	Deafness, Autosomal Dominant 20
OMIM:604765	Cardiomyopathy, Dilated, 1I
OMIM:604772	Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
OMIM:604777	Ichthyosis, Congenital, Autosomal Recessive 5
OMIM:604801	MDC1B
OMIM:604802	HDL3
OMIM:604804	Primary autosomal recessive microcephaly 3
OMIM:604805	Spastic Paraplegia 12, Autosomal Dominant
OMIM:604809	Panbronchiolitis, Diffuse
OMIM:604827	EIG7
OMIM:604841	Stickler syndrome, type 2
OMIM:604856	Langerhans-cell histiocytosis
OMIM:604864	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
OMIM:604901	Hereditary North American Indian childhood cirrhosis
OMIM:604919	Becker Nevus Syndrome
OMIM:604922	Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
OMIM:604928	Wolfram Syndrome 2
OMIM:604931	Cortisone reductase deficiency 1
OMIM:605013	NDE1-related microhydranencephaly
OMIM:605019	Hypobetalipoproteinemia, familial, 2
OMIM:605021	Myoclonic epilepsy, familial infantile
OMIM:605027	Malignant lymphoma, non-Hodgkin
OMIM:605039	Bohring-Opitz syndrome
OMIM:605041	Brooke-Spiegler Syndrome
OMIM:605055	Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid and Prion Pathology
OMIM:605067	tricuspid atresia
OMIM:605074	Type 1 Papillary Renal Cell Carcinoma
OMIM:605115	Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation 1N Pregnancy
OMIM:605130	Wiedemann-Steiner Syndrome
OMIM:605192	Deafness, autosomal dominant 23
OMIM:605229	SPG14
OMIM:605231	Bardet-Biedl Syndrome 6
OMIM:605249	Sebastian Syndrome
OMIM:605253	Charcot-Marie-Tooth disease type 4E
OMIM:605258	Immunodeficiency with hyper IgM type 2
OMIM:605259	Spinocerebellar Ataxia 13
OMIM:605274	Mesomelic Dysplasia, Savarirayan Type
OMIM:605280	Spastic Paraplegia 13, Autosomal Dominant
OMIM:605282	Temtamy Preaxial Brachydactyly Syndrome
OMIM:605285	Charcot-Marie-Tooth disease type 4G
OMIM:605289	Split-hand/foot malformation 4
OMIM:605309	Macrocephaly/Autism Syndrome
OMIM:605321	Frontoocular Syndrome
OMIM:605355	Nemaline myopathy 5
OMIM:605361	Spinocerebellar Ataxia 14
OMIM:605362	Cardiomyopathy, Dilated, 1J
OMIM:605373	Paragangliomas 3
OMIM:605375	Epilepsy, nocturnal frontal lobe, type 3
OMIM:605376	Heterotaxy, Visceral, 2, Autosomal
OMIM:605387	Cataract, posterior polar, 3
OMIM:605388	Cerebral Palsy, Ataxic, Autosomal Recessive
OMIM:605389	Hypotrichosis 1
OMIM:605407	Segawa Syndrome, Autosomal Recessive
OMIM:605419	SCZD10
OMIM:605432	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
OMIM:605462	BCC1
OMIM:605472	Usher syndrome type 2C
OMIM:605479	Benign recurrent intrahepatic cholestasis 2
OMIM:605543	Parkinson Disease 4, Autosomal Dominant
OMIM:605549	CORD8
OMIM:605552	AOMS1
OMIM:605583	Deafness, autosomal dominant 25
OMIM:605588	Charcot-Marie-Tooth Disease, Axonal, Type 2B1
OMIM:605589	Charcot-Marie-Tooth Disease, Axonal, Type 2B2
OMIM:605594	Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
OMIM:605627	Cerebro-oculo-nasal syndrome
OMIM:605635	HALD2
OMIM:605637	Inclusion body myopathy 3
OMIM:605642	Thyroid Carcinoma, Papillary, With Papillary Renal Neoplasia
OMIM:605670	Late-Onset Retinal Degeneration
OMIM:605676	Cardiomyopathy, Dilated, With Woolly Hair and Keratoderma
OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1
OMIM:605714	Cerebral Amyloid Angiopathy, App-Related
OMIM:605724	Fanconi anemia, complementation group D1
OMIM:605726	Distal hereditary motor neuropathy, Jerash type
OMIM:605735	BDPLT12
OMIM:605750	EVR3
OMIM:605751	Seizures, benign familial infantile, 2
OMIM:605779	nonsyndromic congenital nail disorder 7
OMIM:605808	Birdshot chorioretinopathy
OMIM:605809	Myasthenic syndrome, congenital, 4a, slow-channel
OMIM:605814	Neonatal intrahepatic cholestasis caused by citrin deficiency
OMIM:605818	DFNB27
OMIM:605820	Nonaka myopathy
OMIM:605822	Spondyloocular Syndrome
OMIM:605827	GBFHS
OMIM:605850	Dimethylglycine Dehydrogenase Deficiency
OMIM:605899	Glycine Encephalopathy
OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset
OMIM:605911	mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
OMIM:605967	ACRPS
OMIM:605990	Nephrolithiasis, Uric Acid, Susceptibility to
OMIM:606002	ataxia with oculomotor apraxia type 2
OMIM:606003	Transaldolase deficiency
OMIM:606012	autosomal dominant nonsyndromic deafness 18
OMIM:606053	AUTS5
OMIM:606054	propionic acidemia
OMIM:606056	Congenital Disorder of Glycosylation, Type Iib
OMIM:606068	retinitis pigmentosa 28
OMIM:606069	Hemochromatosis, Type 4
OMIM:606070	amyotrophic lateral sclerosis type 21
OMIM:606071	Hereditary Motor and Sensory Neuropathy, Type 2C
OMIM:606072	Rippling Muscle Disease 2
OMIM:606156	Sener Syndrome
OMIM:606159	neurodegeneration with brain iron accumulation 3
OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
OMIM:606170	Genitopatellar Syndrome
OMIM:606176	permanent neonatal diabetes mellitus
OMIM:606177	Pars Planitis
OMIM:606179	Aneurysmal Bone Cysts
OMIM:606183	Laryngeal Abductor Paralysis With Cerebellar Ataxia and Motor Neuropathy
OMIM:606217	Atrioventricular septal defect 2
OMIM:606232	Phelan-Mcdermid Syndrome
OMIM:606240	NMTC3
OMIM:606242	Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
OMIM:606243	Alveolar Soft Part Sarcoma
OMIM:606263	PDB4
OMIM:606324	Parkinson disease 7
OMIM:606346	Deafness, autosomal dominant 22
OMIM:606353	Primary Lateral Sclerosis, Juvenile
OMIM:606367	Immunodeficiency due to CD25 deficiency
OMIM:606369	Lennox-Gastaut syndrome
OMIM:606392	Maturity-Onset Diabetes of the Young, Type 4
OMIM:606394	Maturity-Onset Diabetes of the Young, Type 6
OMIM:606407	hypotonia-cystinuria syndrome
OMIM:606408	Ehlers-Danlos syndrome due to tenascin-X deficiency
OMIM:606438	Huntington disease-like 2
OMIM:606445	Persistent polyclonal B-cell lymphocytosis
OMIM:606482	DNM2-related intermediate Charcot-Marie-Tooth neuropathy
OMIM:606483	Charcot-Marie-Tooth disease dominant intermediate A
OMIM:606519	Phace Association
OMIM:606528	Homozygous 11P15-P14 Deletion Syndrome
OMIM:606545	Ichthyosis, Congenital, Autosomal Recessive 3
OMIM:606552	EA4
OMIM:606554	episodic ataxia type 3
OMIM:606574	Oculocutaneous albinism type 4
OMIM:606579	Vitiligo-associated multiple autoimmune disease susceptibility 1
OMIM:606593	Lig4 syndrome
OMIM:606595	Charcot-Marie-Tooth Disease, Axonal, Type 2F
OMIM:606612	muscular dystrophy-dystroglycanopathy type B5
OMIM:606640	ALS3
OMIM:606658	spinocerebellar ataxia type 15
OMIM:606664	Hypermethioninemia due to glycine N-methyltransferase deficiency
OMIM:606685	Cardiomyopathy, Dilated, 1L
OMIM:606688	Spongiform Encephalopathy With Neuropsychiatric Features
OMIM:606690	lymphangioleiomyomatosis
OMIM:606693	Parkinson disease 9
OMIM:606703	Familial dyskinesia and facial myokymia
OMIM:606705	Deafness, autosomal dominant 36
OMIM:606711	SLI1
OMIM:606712	SLI2
OMIM:606713	Van der Woude syndrome 2
OMIM:606719	Melanoma-Pancreatic Cancer Syndrome
OMIM:606721	Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome
OMIM:606744	Seckel Syndrome 2
OMIM:606752	Acute Hemorrhagic Leukoencephalitis
OMIM:606762	Hyperinsulinemic Hypoglycemia, Familial, 6
OMIM:606763	Ciliary dyskinesia, primary, 2
OMIM:606764	gastrointestinal stromal tumor
OMIM:606768	Myopathy, Distal, With Anterior Tibial Onset
OMIM:606772	Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies
OMIM:606777	Glut1 Deficiency Syndrome 1
OMIM:606785	Crigler-Najjar syndrome type 2
OMIM:606798	Blepharospasm, Benign Essential
OMIM:606812	Fumaric aciduria
OMIM:606824	Glucose-galactose malabsorption
OMIM:606835	Digital arthropathy-brachydactyly, familial
OMIM:606840	PSMNSB
OMIM:606842	Cardioneuromyopathy With Hyaline Masses and Nemaline Rods
OMIM:606843	Immunodeficiency With Hyper-Igm, Type 3
OMIM:606851	Cree Mental Retardation Syndrome
OMIM:606854	Polymicrogyria, Bilateral Frontoparietal
OMIM:606864	Paraganglioma and Gastric Stromal Sarcoma
OMIM:606889	Alzheimer Disease 4
OMIM:606895	Symphalangism, Distal, With Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch
OMIM:606943	Usher syndrome type 1G
OMIM:606952	Oculocutaneous albinism type 1B
OMIM:606960	Insulinoma Tumor Suppressor Gene Locus
OMIM:606963	COPD
OMIM:606966	Nephronophthisis 4
OMIM:606995	SLSN3
OMIM:606996	Senior-Loken syndrome 4
OMIM:607004	BDA1B
OMIM:607014	Hurler syndrome
OMIM:607015	Hurler-Scheie Syndrome
OMIM:607016	Scheie Syndrome
OMIM:607017	autosomal dominant nonsyndromic deafness 21
OMIM:607039	autosomal recessive nonsyndromic deafness 22
OMIM:607060	autosomal dominant Parkinson disease 8
OMIM:607078	Epiphyseal Dysplasia, Multiple, 5
OMIM:607080	46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
OMIM:607084	autosomal recessive nonsyndromic deafness 31
OMIM:607086	AAT1
OMIM:607088	Distal spinal muscular atrophy type 3
OMIM:607091	Congenital disorder of glycosylation type 2D
OMIM:607095	anauxetic dysplasia 1
OMIM:607101	autosomal recessive nonsyndromic deafness 30
OMIM:607107	Nasopharyngeal carcinoma
OMIM:607115	Chronic infantile neurological, cutaneous and articular syndrome
OMIM:607131	Macrocephaly with multiple epiphyseal dysplasia and distinctive facies
OMIM:607136	spinocerebellar ataxia type 17
OMIM:607140	angioid streaks
OMIM:607143	Congenital disorder of glycosylation type 1G
OMIM:607152	hereditary spastic paraplegia 19
OMIM:607154	Allergic Rhinitis
OMIM:607155	autosomal recessive limb-girdle muscular dystrophy type 2I
OMIM:607161	Multiple Congenital Anomalies Syndrome With Cloverleaf Skull
OMIM:607174	Meningioma, Familial, Susceptibility to
OMIM:607196	Microcephaly, Amish Type
OMIM:607200	Thyroid dyshormonogenesis 6
OMIM:607208	Epileptic Encephalopathy, Early Infantile, 6
OMIM:607214	Anonychia, Total, With Microcephaly
OMIM:607225	Spastic Paralysis, Infantile-Onset Ascending
OMIM:607236	Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration
OMIM:607250	Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy
OMIM:607259	Spastic Paraplegia 7, Autosomal Recessive
OMIM:607271	Caspase-8 deficiency
OMIM:607313	Horizontal gaze palsy with progressive scoliosis
OMIM:607317	SCAR4
OMIM:607323	Duane-Radial Ray Syndrome
OMIM:607326	Smith-Mccort Dysplasia 1
OMIM:607330	Lathosterolosis
OMIM:607341	Focal cortical dysplasia of Taylor
OMIM:607346	Spinocerebellar Ataxia 19
OMIM:607361	Meckel Syndrome, Type 3
OMIM:607364	Bartter Syndrome, Type 3
OMIM:607371	Developmental malformations-deafness-dystonia syndrome
OMIM:607373	AUTS8
OMIM:607398	Glucocorticoid deficiency 2
OMIM:607417	Mental retardation, autosomal recessive 2
OMIM:607426	Coenzyme Q10 Deficiency, Primary, 1
OMIM:607432	Lissencephaly 1
OMIM:607450	Arrhythmogenic right ventricular cardiomyopathy, type 8
OMIM:607453	Deafness, autosomal dominant 44
OMIM:607454	Spinocerebellar ataxia 21
OMIM:607458	spinocerebellar ataxia type 18
OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
OMIM:607473	Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 2
OMIM:607475	Bothnia retinal dystrophy
OMIM:607476	Newfoundland Rod-Cone Dystrophy
OMIM:607482	Cardiomyopathy, Dilated, 1M
OMIM:607483	Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- or Thiamine-Responsive Type)
OMIM:607485	Frontotemporal dementia, ubiquitin-positive
OMIM:607487	hypertrophic cardiomyopathy 25
OMIM:607488	DYT15
OMIM:607498	Migraine With or Without Aura, Susceptibility To, 3
OMIM:607499	BULN1
OMIM:607501	migraine without aura
OMIM:607508	Migraine With or Without Aura, Susceptibility To, 5
OMIM:607516	Migraine With or Without Aura, Susceptibility To, 6
OMIM:607541	Corneal Dystrophy, Avellino Type
OMIM:607552	Moved to 255320
OMIM:607554	Atrial Fibrillation, Familial, 3
OMIM:607565	Spastic Paraplegia, Ataxia, and Mental Retardation
OMIM:607569	Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant
OMIM:607578	Breath-Holding Spells
OMIM:607584	SPG24
OMIM:607594	Common variable immunodeficiency 1
OMIM:607595	Brain small vessel disease with hemorrhage
OMIM:607596	Pontocerebellar hypoplasia type 1A
OMIM:607597	Microphthalmia With Cyst, Bilateral Facial Clefts, and Limb Anomalies
OMIM:607598	lethal congenital contracture syndrome 2
OMIM:607600	Epidermolysis bullosa simplex superficialis
OMIM:607602	Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
OMIM:607616	Niemann-Pick disease, type B
OMIM:607624	Griscelli syndrome type 2
OMIM:607625	Niemann-Pick Disease, Type C2
OMIM:607626	Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome
OMIM:607628	Epilepsy with grand mal seizures on awakening
OMIM:607631	Epilepsy, Juvenile Absence, Susceptibility To, 1
OMIM:607634	Osteopetrosis, Autosomal Dominant 1
OMIM:607636	Van Buchem disease type 2
OMIM:607641	Distal hereditary motor neuronopathy type 7B
OMIM:607654	Keratosis Palmoplantaris Striata 3
OMIM:607655	Skin Fragility-Woolly Hair Syndrome
OMIM:607665	Tubulointerstitial nephritis and uveitis syndrome
OMIM:607671	DYT13
OMIM:607674	Cataract, Congenital, With Mental Impairment and Dentate Gyrus Atrophy
OMIM:607676	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
OMIM:607677	Charcot-Marie-Tooth Disease, Axonal, Type 2I
OMIM:607678	Charcot-Marie-Tooth disease type 1D
OMIM:607681	Epilepsy, childhood absence 2
OMIM:607682	Epilepsy, idiopathic generalized 9
OMIM:607683	autosomal dominant nonsyndromic deafness 52
OMIM:607684	Charcot-Marie-Tooth Disease, Axonal, Type 2E
OMIM:607685	Idiopathic hypereosinophilic syndrome
OMIM:607688	Parkinson disease 11
OMIM:607694	Leukodystrophy, Hypomyelinating, 7, With or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
OMIM:607706	Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
OMIM:607721	Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
OMIM:607731	CMT2H
OMIM:607734	Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
OMIM:607736	Charcot-Marie-Tooth Disease, Axonal, Type 2J
OMIM:607745	Benign familial neonatal-infantile seizures
OMIM:607748	Hypercholanemia, Familial
OMIM:607765	Bile Acid Synthesis Defect, Congenital, 1
OMIM:607778	Acrocapitofemoral Dysplasia
OMIM:607785	Juvenile Myelomonocytic Leukemia
OMIM:607791	Charcot-Marie-Tooth disease dominant intermediate 3
OMIM:607801	Limb-girdle muscular dystrophy, type 1C
OMIM:607812	Craniolenticulosutural dysplasia
OMIM:607821	Deafness, autosomal recessive 37
OMIM:607822	Alzheimer Disease 3
OMIM:607823	Hypotrichosis-lymphedema-telangiectasia syndrome
OMIM:607829	Mitral Valve Prolapse 2
OMIM:607831	Charcot-Marie-Tooth disease axonal type 2K
OMIM:607832	Focal Segmental Glomerulosclerosis 3, Susceptibility to
OMIM:607841	DFNA48
OMIM:607842	Aural atresia, congenital
OMIM:607847	Adult idiopathic neutropenia
OMIM:607850	Osteoarthritis susceptibility 3
OMIM:607855	Muscular Dystrophy, Congenital Merosin-Deficient, 1A
OMIM:607859	Angioma, Tufted
OMIM:607864	Caudal Duplication Anomaly
OMIM:607872	chromosome 1p36 deletion syndrome
OMIM:607876	Epilepsy, Familial Adult Myoclonic, 2
OMIM:607903	hypotrichosis 6
OMIM:607906	congenital disorder of glycosylation type II
OMIM:607907	dermatofibrosarcoma protuberans
OMIM:607921	retinitis pigmentosa 30
OMIM:607932	Microphthalmia, Syndromic 6
OMIM:607936	Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like
OMIM:607941	atrial heart septal defect 2
OMIM:607944	Spondyloenchondrodysplasia With Immune Dysregulation
OMIM:608013	Gaucher disease, perinatal lethal
OMIM:608022	Diaphanospondylodysostosis
OMIM:608027	pontocerebellar hypoplasia type 3
OMIM:608028	Thai Symphalangism Syndrome
OMIM:608029	SCAR6
OMIM:608030	Amyotrophic Lateral Sclerosis 6 With or Without Frontotemporal Dementia
OMIM:608033	Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
OMIM:608049	AUTS3
OMIM:608051	Macular Dystrophy, Retinal, 2
OMIM:608068	Sweet syndrome
OMIM:608088	Neuropathy, Hereditary Sensory and Autonomic, Type I, With Cough and Gastroesophageal Reflux
OMIM:608089	Endometrial Cancer
OMIM:608091	Joubert Syndrome 2
OMIM:608093	DPAGT1-CDG
OMIM:608096	ETL2
OMIM:608097	Heterotopia, periventricular, autosomal recessive
OMIM:608099	Limb-girdle muscular dystrophy, type 2D
OMIM:608104	Congenital disorder of glycosylation type 1H
OMIM:608105	EPRPDC
OMIM:608106	Immunodeficiency with hyper IgM type 5
OMIM:608115	ovarian hyperstimulation syndrome
OMIM:608118	Zinc deficiency, transient neonatal
OMIM:608133	retinitis pigmentosa 7
OMIM:608149	Kagami-Ogata Syndrome
OMIM:608154	Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, and Slender Bones
OMIM:608156	Nablus Mask-Like Facial Syndrome
OMIM:608161	Macular Dystrophy, Vitelliform, 3
OMIM:608175	Autoimmune Thyroid Disease, Susceptibility To, 3
OMIM:608180	Synpolydactyly type 2
OMIM:608184	immunodeficiency with hyper-IgM type 4
OMIM:608189	Tropical Calcific Pancreatitis
OMIM:608194	Cone-Rod Dystrophy 13
OMIM:608203	Neutrophil Immunodeficiency Syndrome
OMIM:608217	BFNS3
OMIM:608219	DFNB38
OMIM:608220	SPG25
OMIM:608224	Deafness, Autosomal Dominant 41
OMIM:608227	Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
OMIM:608232	Leukemia, Chronic Myeloid
OMIM:608233	Hermansky-Pudlak Syndrome 2
OMIM:608236	Autosomal dominant slowed nerve conduction velocity
OMIM:608244	OTSC3
OMIM:608257	Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
OMIM:608264	autosomal recessive nonsyndromic deafness 40
OMIM:608265	Deafness, autosomal recessive 39
OMIM:608266	Parathyroid Carcinoma
OMIM:608278	Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
OMIM:608279	Craniosynostosis With Ocular Abnormalities and Hallucal Defects
OMIM:608290	Lelis Syndrome
OMIM:608320	Coronary Artery Disease, Autosomal Dominant, 1
OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C
OMIM:608328	Weill-Marchesani syndrome 2
OMIM:608340	Charcot-Marie-Tooth Disease, Recessive Intermediate a
OMIM:608345	NYS3
OMIM:608354	Capillary malformation-arteriovenous malformation
OMIM:608355	Parkes Weber Syndrome
OMIM:608358	Myopathy, Myosin Storage, Autosomal Dominant
OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type
OMIM:608363	Chromosome 22Q11.2 Duplication Syndrome
OMIM:608367	MYP17
OMIM:608372	DFNA49
OMIM:608380	Retinitis Pigmentosa 26
OMIM:608389	Branchiootic syndrome 3
OMIM:608390	Potassium-aggravated myotonia
OMIM:608393	Primary autosomal recessive microcephaly 6
OMIM:608404	Platelet glycoprotein IV deficiency
OMIM:608406	Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
OMIM:608415	Prolonged electroretinal response suppression
OMIM:608423	Muscular Dystrophy, Limb-Girdle, Type 1F
OMIM:608432	Craniosynostosis-intracranial calcifications syndrome
OMIM:608443	Mental retardation, autosomal recessive 3
OMIM:608456	MYH-associated polyposis
OMIM:608470	Corneal Dystrophy, Reis-Bucklers Type
OMIM:608471	Lattice corneal dystrophy type 3A
OMIM:608474	MYP5
OMIM:608484	Congenital Corneal Opacities, Cornea Guttata, and Corectopia
OMIM:608540	ALG1-CDG
OMIM:608545	Larsen-like osseous dysplasia-short stature syndrome
OMIM:608553	Leber Congenital Amaurosis 9
OMIM:608565	autosomal recessive nonsyndromic deafness 35
OMIM:608567	Sick Sinus Syndrome 1
OMIM:608569	dilated cardiomyopathy 1O
OMIM:608571	Ulnar/fibular ray defect and brachydactyly
OMIM:608572	Burn-McKeown syndrome
OMIM:608583	ATFB1
OMIM:608591	Moved to 614436
OMIM:608594	Lipodystrophy, Congenital Generalized, Type 1
OMIM:608600	FPLD1
OMIM:608611	Ribose-5-P isomerase deficiency
OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy
OMIM:608615	Oligodontia-Colorectal Cancer Syndrome
OMIM:608624	Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
OMIM:608627	amyotrophic lateral sclerosis type 8
OMIM:608629	Joubert Syndrome 3
OMIM:608631	ASPG2
OMIM:608634	Neuronopathy, Distal Hereditary Motor, Type 2B
OMIM:608636	Chromosome 15Q11-Q13 Duplication Syndrome
OMIM:608638	ASPG1
OMIM:608641	Deafness, Autosomal Dominant 28
OMIM:608643	Deficiency of aromatic-L-amino-acid decarboxylase
OMIM:608644	Ciliary dyskinesia, primary, 3
OMIM:608645	autosomal dominant nonsyndromic deafness 31
OMIM:608647	Ciliary dyskinesia, primary, 5
OMIM:608649	Ichthyosis Prematurity Syndrome
OMIM:608653	autosomal recessive nonsyndromic deafness 32
OMIM:608654	Hereditary sensory and autonomic neuropathy type 5
OMIM:608664	Moved to {210600}
OMIM:608673	Charcot-Marie-Tooth disease axonal type 2L
OMIM:608681	Spondylocostal dysostosis 2
OMIM:608687	Spinocerebellar Ataxia 20
OMIM:608688	AICAR transformylase/IMP cyclohydrolase deficiency
OMIM:608703	SCA25
OMIM:608709	Partial acquired lipodystrophy
OMIM:608710	Wegener Granulomatosis
OMIM:608716	Primary autosomal recessive microcephaly 5
OMIM:608720	Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, With Anosmia
OMIM:608728	Spondyloepimetaphyseal dysplasia Matrilin-3 related
OMIM:608747	Insulin-Like Growth Factor 1 Deficiency
OMIM:608751	Cardiomyopathy, Familial Hypertrophic, 8
OMIM:608758	Familial hypertrophic cardiomyopathy 10
OMIM:608762	EIG3
OMIM:608763	Ehlers-Danlos Syndrome, Beasley-Cohen Type
OMIM:608768	spinocerebellar ataxia type 8
OMIM:608776	ALG9-CDG
OMIM:608779	Congenital disorder of glycosylation type 2E
OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency
OMIM:608799	Congenital disorder of glycosylation type 1E
OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome
OMIM:608804	Leukodystrophy, hypomyelinating, 2
OMIM:608805	Avascular necrosis of the head of femur
OMIM:608807	Muscular Dystrophy, Limb-Girdle, Type 2J
OMIM:608808	dextro-looped transposition of the great arteries 1
OMIM:608809	Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema
OMIM:608810	Alpha-B crystallinopathy
OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal
OMIM:608837	Carney complex variant
OMIM:608840	Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 6
OMIM:608864	Orofacial Cleft 6, Susceptibility to
OMIM:608874	Orofacial cleft 5
OMIM:608885	Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
OMIM:608890	Waardenburg syndrome type 2D
OMIM:608895	Macular Degeneration, Age-Related, 3
OMIM:608898	Hemophagocytic Lymphohistiocytosis, Familial, 3
OMIM:608902	Drug Metabolism, Poor, Cyp2D6-Related
OMIM:608908	Myopia 6
OMIM:608911	choanal atresia
OMIM:608930	congenital myasthenic syndrome 1B
OMIM:608931	Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy
OMIM:608957	Cd8 Deficiency, Familial
OMIM:608971	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
OMIM:608980	Bifid nose with or without anorectal and renal anomalies
OMIM:608984	Ataxia, sensory, autosomal dominant
OMIM:608995	DYX8
OMIM:608996	Premature ovarian failure 3
OMIM:609006	Deafness, Autosomal Recessive 36, With or Without Vestibular Involvement
OMIM:609008	Marfanoid Habitus With Situs Inversus
OMIM:609015	Mitochondrial Trifunctional Protein Deficiency
OMIM:609016	Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
OMIM:609021	Peripheral Cone Dystrophy
OMIM:609029	Emanuel syndrome
OMIM:609033	Posterior column ataxia-retinitis pigmentosa syndrome
OMIM:609037	Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
OMIM:609039	NRCLP3
OMIM:609040	Arrhythmogenic right ventricular cardiomyopathy, type 9
OMIM:609041	SPG27
OMIM:609048	Melanoma, Cutaneous Malignant, Susceptibility To, 3
OMIM:609049	Pierson syndrome
OMIM:609052	Spondylometaphyseal dysplasia, A4 type
OMIM:609053	Fanconi Anemia, Complementation Group 1
OMIM:609054	Fanconi Anemia, Complementation Group J
OMIM:609055	neuronal ceroid lipofuscinosis 9
OMIM:609056	Salt and Pepper Developmental Regression Syndrome
OMIM:609057	Nephropathy with pretibial epidermolysis bullosa and deafness
OMIM:609060	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
OMIM:609069	Diabetes mellitus, permanent neonatal, with cerebellar agenesis
OMIM:609115	autosomal dominant limb-girdle muscular dystrophy type 1G
OMIM:609128	DA4
OMIM:609129	Auditory neuropathy, autosomal dominant, 1
OMIM:609135	Aplastic Anemia
OMIM:609136	Neurologic Waardenburg-Shah syndrome
OMIM:609140	posterior polymorphous corneal dystrophy 2
OMIM:609141	Corneal Dystrophy, Posterior Polymorphous, 3
OMIM:609152	Hyperthyroidism, Nonautoimmune
OMIM:609153	Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak
OMIM:609161	Striatal degeneration, autosomal dominant 1
OMIM:609162	Czech dysplasia metatarsal type
OMIM:609165	Congenital reticular ichthyosiform erythroderma
OMIM:609166	Branchiogenic-Deafness Syndrome
OMIM:609180	Congenital disorder of glycosylation type 1F
OMIM:609192	Loeys-Dietz Syndrome 1
OMIM:609195	Spastic Paraplegia 26, Autosomal Recessive
OMIM:609197	GCCD3
OMIM:609200	myofibrillar myopathy 3
OMIM:609218	Foveal hypoplasia 2
OMIM:609220	Bruck syndrome 2
OMIM:609222	ADDWOC
OMIM:609223	Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
OMIM:609227	Griscelli Syndrome, Type 3
OMIM:609241	Alpha-N-acetylgalactosaminidase deficiency type 1
OMIM:609242	Kanzaki disease
OMIM:609253	FEB6
OMIM:609254	Senior-Loken Syndrome 5
OMIM:609255	FEB5
OMIM:609256	MYP7
OMIM:609257	MYP8
OMIM:609258	MYP9
OMIM:609259	MYP10
OMIM:609260	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
OMIM:609265	Li-Fraumeni syndrome 2
OMIM:609270	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
OMIM:609273	Nemaline Myopathy 6
OMIM:609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
OMIM:609284	Nemaline myopathy 1
OMIM:609285	Nemaline myopathy 4
OMIM:609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
OMIM:609289	VVS
OMIM:609304	Epileptic Encephalopathy, Early Infantile, 3
OMIM:609306	spinocerebellar ataxia type 26
OMIM:609307	spinocerebellar ataxia type 27
OMIM:609308	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
OMIM:609310	Lynch 2 Syndrome
OMIM:609311	Charcot-Marie-Tooth Disease, Type 4H
OMIM:609313	Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma
OMIM:609322	Rhabdoid Tumor Predisposition Syndrome 1
OMIM:609324	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
OMIM:609325	Epiphyseal Dysplasia, Multiple, With Miniepiphyses
OMIM:609340	hereditary spastic paraplegia 28
OMIM:609345	Cerebro-reno-digital syndrome
OMIM:609352	Epidermolysis Bullosa Simplex With Migratory Circinate Erythema
OMIM:609376	cataract 35
OMIM:609384	CFEOM3C
OMIM:609404	Preeclampsia/eclampsia 4
OMIM:609423	Human immunodeficiency virus type 1, susceptibility to
OMIM:609425	Chromosome 3Q29 Deletion Syndrome
OMIM:609428	Tukel Syndrome
OMIM:609432	Mesoaxial synostotic syndactyly with phalangeal reduction
OMIM:609438	Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block
OMIM:609439	Deafness, autosomal recessive 48
OMIM:609441	Chondrodysplasia acromesomelic with genital anomalies
OMIM:609442	Valproate Embryopathy, Susceptibility to
OMIM:609446	Generalized epilepsy and paroxysmal dyskinesia
OMIM:609452	myofibrillar myopathy 4
OMIM:609454	PSNP2
OMIM:609456	congenital muscular dystrophy merosin-positive
OMIM:609460	Goldberg-Shprintzen Syndrome
OMIM:609500	Myopathy, Autophagic Vacuolar, Infantile-Onset
OMIM:609508	Stickler Syndrome, Type I, Nonsyndromic Ocular
OMIM:609524	Myofibrillar myopathy, filamin C-related
OMIM:609528	Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome
OMIM:609529	Immunoglobulin A deficiency 2
OMIM:609533	autosomal recessive nonsyndromic deafness 23
OMIM:609536	complement component 5 deficiency
OMIM:609541	SPOAN syndrome
OMIM:609549	Nanophthalmos 2
OMIM:609560	mitochondrial DNA depletion syndrome 2
OMIM:609566	PFM3
OMIM:609579	Scaphocephaly, Maxillary Retrusion, and Mental Retardation
OMIM:609583	Joubert syndrome 4
OMIM:609597	Parietal Foramina 2
OMIM:609612	Fibrosis of Extraocular Muscles, Congenital, With Synergistic Divergence
OMIM:609616	Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, and Deafness
OMIM:609620	Short Qt Syndrome 1
OMIM:609621	Short Qt Syndrome 2
OMIM:609622	Short Qt Syndrome 3
OMIM:609625	distal 10q deletion syndrome
OMIM:609628	Majeed Syndrome
OMIM:609634	Migraine, Familial Hemiplegic, 3
OMIM:609636	Alzheimer Disease 10
OMIM:609637	holoprosencephaly 5
OMIM:609638	Epidermolysis Bullosa, Lethal Acantholytic
OMIM:609640	14q22q23 microdeletion syndrome
OMIM:609646	autosomal recessive nonsyndromic deafness 42
OMIM:609647	DFNB46
OMIM:609649	TRICY1
OMIM:609654	Short Stature and Facioauriculothoracic Malformations
OMIM:609655	Talo-patello-scaphoid osteolysis
OMIM:609698	Thyroid Hormone Metabolism, Abnormal
OMIM:609706	autosomal recessive nonsyndromic deafness 53
OMIM:609727	hereditary spastic paraplegia 29
OMIM:609734	Proopiomelanocortin Deficiency
OMIM:609741	cataract 22 multiple types
OMIM:609757	Williams-Beuren Region Duplication Syndrome
OMIM:609796	Peeling skin syndrome, acral type
OMIM:609800	GEFSP4
OMIM:609808	Hamartoma, Precalcaneal Congenital Fibrolipomatous
OMIM:609812	Maturity-Onset Diabetes of the Young, Type 8, With Exocrine Dysfunction
OMIM:609813	Spondylocostal dysostosis 3
OMIM:609814	Complement Factor H Deficiency
OMIM:609820	Erythrocytosis, familial, 3
OMIM:609821	platelet-type bleeding disorder 8
OMIM:609823	Deafness, autosomal recessive 28
OMIM:609886	Glomerulocystic kidney disease with hyperuricemia and isosthenuria
OMIM:609887	Glaucoma 1, Open Angle, G
OMIM:609889	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
OMIM:609909	dilated cardiomyopathy 1P
OMIM:609923	Retinitis Pigmentosa 31
OMIM:609924	Aminoacylase 1 deficiency
OMIM:609939	SLEB6
OMIM:609941	autosomal recessive nonsyndromic deafness 51
OMIM:609942	Noonan Syndrome 3
OMIM:609943	Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features
OMIM:609944	Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
OMIM:609945	Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
OMIM:609968	Hyperinsulinemic hypoglycemia familial 5
OMIM:609975	Hyperinsulinemic Hypoglycemia, Familial, 4
OMIM:609981	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
OMIM:609993	Osteosclerosis-ichthyosis-premature ovarian failure syndrome
OMIM:610003	Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
OMIM:610006	2-methylbutyryl-CoA dehydrogenase deficiency
OMIM:610015	Congenital brain dysgenesis due to glutamine synthetase deficiency
OMIM:610017	Multiple synostoses syndrome 2
OMIM:610019	cataract 18
OMIM:610021	Hyperinsulinemic Hypoglycemia, Familial, 7
OMIM:610023	Brachydactyly, Coloboma, and Anterior Segment Dysgenesis
OMIM:610024	Retinal cone dystrophy 3A
OMIM:610031	Polymicrogyria due to TUBB2B mutation
OMIM:610042	Cortical Dysplasia-Focal Epilepsy Syndrome
OMIM:610048	Corneal Dystrophy, Congenital Stromal
OMIM:610069	Polyposis Syndrome, Hereditary Mixed, 2
OMIM:610090	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
OMIM:610092	Microphthalmia, Isolated, With Coloboma 3
OMIM:610093	isolated microphthalmia 2
OMIM:610099	MPD3
OMIM:610100	giant axonal neuropathy 2
OMIM:610102	Complement component 7 deficiency
OMIM:610125	Microphthalmia, Syndromic 5
OMIM:610127	neuronal ceroid lipofuscinosis 10
OMIM:610131	Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
OMIM:610140	Heart-hand syndrome, Slovenian type
OMIM:610143	autosomal recessive nonsyndromic deafness 62
OMIM:610153	Deafness, autosomal recessive 49
OMIM:610154	autosomal recessive nonsyndromic deafness 44
OMIM:610156	MORM syndrome
OMIM:610158	FECD2
OMIM:610163	Immunodeficiency 25
OMIM:610168	Loeys-Dietz Syndrome 2
OMIM:610181	Aicardi-Goutieres Syndrome 2
OMIM:610185	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2
OMIM:610187	Diaphragmatic Hernia 3
OMIM:610188	Joubert syndrome 5
OMIM:610189	Senior-Loken Syndrome 6
OMIM:610193	Arrhythmogenic right ventricular cardiomyopathy, type 10
OMIM:610198	3-Methylglutaconic Aciduria, Type 5
OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism
OMIM:610202	cataract 21 multiple types
OMIM:610204	pontocerebellar hypoplasia type 5
OMIM:610205	Alagille syndrome due to a NOTCH2 point mutation
OMIM:610208	Migraine With or Without Aura, Susceptibility To, 10
OMIM:610209	Migraine With or Without Aura, Susceptibility To, 11
OMIM:610212	autosomal recessive nonsyndromic deafness 66
OMIM:610217	Neurodegeneration with brain iron accumulation 2b
OMIM:610220	Deafness, autosomal recessive 59
OMIM:610227	Seborrhea-Like Dermatitis With Psoriasiform Elements
OMIM:610244	Spastic paraplegia 33, autosomal dominant
OMIM:610245	Spinocerebellar Ataxia 23
OMIM:610246	spinocerebellar ataxia type 28
OMIM:610247	EOE1
OMIM:610248	autosomal recessive nonsyndromic deafness 65
OMIM:610250	Spastic Paraplegia 31, Autosomal Dominant
OMIM:610251	Alcohol Sensitivity, Acute
OMIM:610253	Kleefstra syndrome
OMIM:610256	congenital aphakia
OMIM:610265	autosomal recessive nonsyndromic deafness 67
OMIM:610279	Pachygyria, Frontotemporal
OMIM:610282	Retinitis Pigmentosa 35
OMIM:610283	Cone-Rod Dystrophy 10
OMIM:610293	Glycosylphosphatidylinositol Deficiency
OMIM:610297	Parkinson Disease 13, Autosomal Dominant, Susceptibility to
OMIM:610313	Cold-induced sweating syndrome 2
OMIM:610319	Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
OMIM:610329	Aicardi-Goutieres Syndrome 3
OMIM:610333	Aicardi-Goutieres Syndrome 4
OMIM:610338	Right Pulmonary Artery, Anomalous Origin Of, Familial
OMIM:610353	Epilepsy, Nocturnal Frontal Lobe, 4
OMIM:610356	Cone dystrophy with supernormal rod response
OMIM:610357	hereditary spastic paraplegia 30
OMIM:610359	Retinitis Pigmentosa 33
OMIM:610370	Diarrhea 4, malabsorptive, congenital
OMIM:610374	Transient neonatal diabetes mellitus 2
OMIM:610377	Mevalonic Aciduria
OMIM:610381	Cone-Rod Dystrophy 11
OMIM:610382	Prosopagnosia, Hereditary
OMIM:610419	autosomal recessive nonsyndromic deafness 68
OMIM:610420	Preauricular Tag, Isolated, Autosomal Dominant, 1
OMIM:610422	APMR2
OMIM:610425	Cataract 23, multiple types
OMIM:610427	Congenital stationary night blindness, type 2B
OMIM:610441	Testicular Microlithiasis
OMIM:610442	Spondyloepimetaphyseal dysplasia Genevieve type
OMIM:610443	Koolen-De Vries Syndrome
OMIM:610444	Congenital stationary night blindness, autosomal dominant 3
OMIM:610445	Congenital stationary night blindness, autosomal dominant 1
OMIM:610448	Chilblain lupus 1
OMIM:610455	Tumoral Calcinosis, Normophosphatemic, Familial
OMIM:610460	Thiopurine methyltransferase deficiency
OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome
OMIM:610475	Pigmented Nodular Adrenocortical Disease, Primary, 2
OMIM:610476	Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
OMIM:610478	Retinal Cone Dystrophy 4
OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1
OMIM:610498	Combined oxidative phosphorylation defect type 2
OMIM:610504	Preterm premature rupture of membranes
OMIM:610505	Combined Oxidative Phosphorylation Deficiency 3
OMIM:610508	Maturity-onset diabetes of the young, type 7
OMIM:610532	Hypomyelination and Congenital Cataract
OMIM:610535	GLC1M
OMIM:610536	Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
OMIM:610539	Gaucher disease, atypical, due to saposin C deficiency
OMIM:610542	congenital myasthenic syndrome 12
OMIM:610543	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OMIM:610549	Insulin-resistant diabetes mellitus AND acanthosis nigricans
OMIM:610551	Herpes Simplex Encephalitis, Susceptibility To, 1
OMIM:610582	Transient neonatal diabetes mellitus 3
OMIM:610599	Retinitis Pigmentosa 36
OMIM:610600	Corticosterone methyloxidase type 2 deficiency
OMIM:610612	Leber Congenital Amaurosis 12
OMIM:610618	Hereditary angioedema type 3
OMIM:610623	Cataract 11, Multiple Types
OMIM:610628	Hypogonadotropic Hypogonadism 4 With or Without Anosmia
OMIM:610629	Diamond-Blackfan Anemia 3
OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal
OMIM:610651	Xeroderma Pigmentosum, Complementation Group B
OMIM:610655	HHT4
OMIM:610678	Combined oxidative phosphorylation defect type 4
OMIM:610680	Holoprosencephaly, Recurrent Infections, and Monocytosis
OMIM:610682	osteogenesis imperfecta type 7
OMIM:610687	Nemaline Myopathy 7
OMIM:610688	Joubert Syndrome 6
OMIM:610698	Macular Degeneration, Age-Related, 4
OMIM:610706	Deafness with labyrinthine aplasia, microtia, and microdontia
OMIM:610708	OPA5
OMIM:610713	Brachydactyly-Syndactyly Syndrome
OMIM:610717	Neutral Lipid Storage Disease With Myopathy
OMIM:610725	Nephrotic syndrome, type 3
OMIM:610733	Noonan syndrome 4
OMIM:610738	Severe congenital neutropenia 3, autosomal recessive
OMIM:610743	Autosomal recessive ataxia, Beauce type
OMIM:610755	multiple endocrine neoplasia type 4
OMIM:610756	Cerebrooculofacioskeletal Syndrome 2
OMIM:610758	Cerebrooculofacioskeletal syndrome 4
OMIM:610759	Cornelia De Lange Syndrome 3
OMIM:610768	DK1-CDG
OMIM:610773	Mitochondrial Phosphate Carrier Deficiency
OMIM:610797	Epiphyseal Dysplasia, Baumann Type
OMIM:610798	Primary immunodeficiency syndrome due to p14 deficiency
OMIM:610799	Invasive pneumococcal disease, recurrent isolated, 1
OMIM:610805	Congenital anomalies of kidney and urinary tract 1, susceptibility to
OMIM:610828	holoprosencephaly 7
OMIM:610829	Holoprosencephaly 9
OMIM:610832	Fanconi Anemia, Complementation Group N
OMIM:610840	MVP3
OMIM:610842	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
OMIM:610852	Ciliary dyskinesia, primary, 6
OMIM:610878	Vesicoureteral Reflux 2
OMIM:610883	Potocki-Lupski Syndrome
OMIM:610896	Branchiootorenal Syndrome 2
OMIM:610910	Pulmonary Alveolar Proteinosis, Acquired
OMIM:610913	Surfactant Metabolism Dysfunction, Pulmonary, 2
OMIM:610915	Osteogenesis imperfecta type 8
OMIM:610921	Interstitial lung disease due to ABCA3 deficiency
OMIM:610947	Coronary Artery Disease, Autosomal Dominant 2
OMIM:610951	Ceroid lipofuscinosis neuronal 7
OMIM:610954	Pitt-Hopkins Syndrome
OMIM:610965	XFE progeroid syndrome
OMIM:610967	osteogenesis imperfecta type 5
OMIM:610968	Osteogenesis Imperfecta, Type 11
OMIM:610978	Brain-lung-thyroid syndrome
OMIM:610984	Complement Factor 1 Deficiency
OMIM:610992	Phosphoserine Aminotransferase Deficiency
OMIM:611022	autosomal recessive nonsyndromic deafness 24
OMIM:611031	EKD2
OMIM:611038	isolated microphthalmia 3
OMIM:611040	isolated microphthalmia 5
OMIM:611067	Autosomal recessive lower motor neuron disease with childhood onset
OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy
OMIM:611090	Mental Retardation, Autosomal Recessive 12
OMIM:611091	Mental Retardation, Autosomal Recessive 5
OMIM:611092	Mental Retardation, Autosomal Recessive 6
OMIM:611093	Mental Retardation, Autosomal Recessive 7
OMIM:611095	MRT9
OMIM:611102	Deafness-Infertility Syndrome
OMIM:611105	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
OMIM:611126	Acyl-CoA dehydrogenase 9 deficiency
OMIM:611131	Retinitis Pigmentosa 37
OMIM:611134	Meckel Syndrome, Type 4
OMIM:611147	PNKD2
OMIM:611174	Hamamy Syndrome
OMIM:611182	Congenital disorder of glycosylation type 2H
OMIM:611209	Congenital disorder of glycosylation type 2G
OMIM:611225	hereditary spastic paraplegia 18
OMIM:611228	Charcot-Marie-Tooth disease type 4J
OMIM:611252	hereditary spastic paraplegia 32
OMIM:611263	Asphyxiating thoracic dystrophy 2
OMIM:611277	Generalized Epilepsy With Febrile Seizures Plus, Type 3
OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency
OMIM:611284	FTSD
OMIM:611291	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
OMIM:611302	Spastic Ataxia 2, Autosomal Recessive
OMIM:611307	autosomal recessive limb-girdle muscular dystrophy type 2L
OMIM:611363	Atrial Septal Defect 4
OMIM:611364	EJM4
OMIM:611369	lethal congenital contracture syndrome 3
OMIM:611376	MGS
OMIM:611377	Brachydactyly, Type B2
OMIM:611383	Usher syndrome type 2D
OMIM:611390	spastic ataxia 3
OMIM:611391	Cataract, cortical, juvenile-onset
OMIM:611407	Cardiomyopathy, Dilated, 1W
OMIM:611426	Tented Eyebrows
OMIM:611431	Legius Syndrome
OMIM:611451	autosomal recessive nonsyndromic deafness 63
OMIM:611465	Gallbladder Disease 4
OMIM:611489	corticosteroid-binding globulin deficiency
OMIM:611490	Osteopetrosis autosomal recessive 4
OMIM:611493	Atrial Fibrillation, Familial, 4
OMIM:611494	ATFB5
OMIM:611497	Intermediate osteopetrosis
OMIM:611498	Nephronophthisis 7
OMIM:611521	Immunodeficiency 35
OMIM:611523	Pontocerebellar Hypoplasia, Type 6
OMIM:611528	arrhythmogenic right ventricular dysplasia 12
OMIM:611543	Cavitary Optic Disc Anomalies
OMIM:611544	Cataract, congenital nuclear, autosomal recessive 3
OMIM:611548	Premature Ovarian Failure 5
OMIM:611553	Noonan syndrome 5
OMIM:611554	LEOPARD syndrome 2
OMIM:611556	Glycogen Storage Disease 0, Muscle
OMIM:611560	Joubert Syndrome 7
OMIM:611561	Meckel Syndrome, Type 5
OMIM:611571	OTSC4
OMIM:611572	OTSC7
OMIM:611584	Waardenburg Syndrome, Type 2E
OMIM:611588	autosomal recessive limb-girdle muscular dystrophy type 2M
OMIM:611590	Renal Tubular Acidosis, Distal, With Hemolytic Anemia
OMIM:611597	Cataract, autosomal dominant, multiple types 1
OMIM:611603	Lissencephaly 3
OMIM:611615	Cardiomyopathy, Dilated, 1X
OMIM:611630	ETL3
OMIM:611631	ETL4
OMIM:611634	FEB9
OMIM:611637	PLSA1
OMIM:611638	Microphthalmia, Isolated, With Coloboma 5
OMIM:611694	DYTCA
OMIM:611702	Spondylometaphyseal Dysplasia, East African Type
OMIM:611705	Myopathy, early-onset, with fatal cardiomyopathy
OMIM:611717	Spondyloepiphyseal dysplasia, Cantu type
OMIM:611718	renal hypomagnesemia 4
OMIM:611719	Hypotonia with lactic acidemia and hyperammonemia
OMIM:611721	Combined saposin deficiency
OMIM:611722	Krabbe Disease, Atypical, Due to Saposin a Deficiency
OMIM:611726	Epilepsy, progressive myoclonic 3
OMIM:611755	Leber Congenital Amaurosis 10
OMIM:611762	Familial Cold Autoinflammatory Syndrome 2
OMIM:611771	Lipoprotein glomerulopathy
OMIM:611773	Angiopathy, Hereditary, With Nephropathy, Aneurysms, and Muscle Cramps
OMIM:611775	Kawasaki disease
OMIM:611777	Brugada Syndrome 2
OMIM:611783	Erythrocytosis, familial, 4
OMIM:611788	Aortic aneurysm, familial thoracic 6
OMIM:611804	Elliptocytosis 1
OMIM:611808	Tremor, Hereditary Essential, and Idiopathic Normal Pressure Hydrocephalus
OMIM:611809	Bestrophinopathy, Autosomal Recessive
OMIM:611812	46,Xx Sex Reversal With Dysgenesis of Kidneys, Adrenals, and Lungs
OMIM:611816	Temple-Baraitser Syndrome
OMIM:611818	long QT syndrome 9
OMIM:611819	Long QT syndrome 10
OMIM:611820	Long QT syndrome 11
OMIM:611863	Microtia With Nasolacrimal Duct Imperforation and Eye Coloboma
OMIM:611867	chromosome 22q11.2 deletion syndrome, distal
OMIM:611875	Brugada syndrome 3
OMIM:611876	Brugada syndrome 4
OMIM:611878	Cardiomyopathy, Dilated, 1Y
OMIM:611879	Cardiomyopathy, Dilated, 1Z
OMIM:611880	dilated cardiomyopathy 2A
OMIM:611881	Glycogen Storage Disease 12
OMIM:611884	Ciliary Dyskinesia, Primary, 7
OMIM:611890	Lethal arthrogryposis with anterior horn cell disease
OMIM:611895	amyotrophic lateral sclerosis type 9
OMIM:611907	EA7
OMIM:611913	Proximal 16p11.2 microdeletion syndrome
OMIM:611926	Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
OMIM:611929	Camptodactyly Syndrome, Guadalajara, Type 3
OMIM:611936	Chromosome 3Q29 Duplication Syndrome
OMIM:611938	Ventricular tachycardia, catecholaminergic polymorphic, 2
OMIM:611943	Riddle Syndrome
OMIM:611944	LMPH1B
OMIM:611945	SPG37
OMIM:611953	Age-related macular degeneration 11
OMIM:611961	Stevenson-Carey Syndrome
OMIM:611962	Hunter-Macdonald Syndrome
OMIM:612001	15q13.3 microdeletion syndrome
OMIM:612004	Thrombocytopenia 4
OMIM:612015	RFT1-CDG
OMIM:612016	Coenzyme Q10 Deficiency, Primary, 4
OMIM:612018	Juvenile cataract-microcornea-renal glucosuria syndrome
OMIM:612020	hereditary spastic paraplegia 39
OMIM:612067	Dystonia 16
OMIM:612069	Amyotrophic Lateral Sclerosis 10 With or Without Frontotemporal Dementia
OMIM:612073	Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With or Without Methylmalonic Aciduria)
OMIM:612075	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy
OMIM:612076	Hypouricemia, Renal, 2
OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome
OMIM:612089	Hypophosphatemic Rickets and Hyperparathyroidism
OMIM:612095	retinitis pigmentosa 41
OMIM:612096	OTSC8
OMIM:612097	Deafness, Unilateral, With Delayed Endolymphatic Hydrops
OMIM:612098	Familial hypertrophic cardiomyopathy 11
OMIM:612109	Oculoauricular Syndrome
OMIM:612119	Trehalase Deficiency
OMIM:612124	hypertrophic cardiomyopathy 12
OMIM:612126	Glut1 Deficiency Syndrome 2
OMIM:612132	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant
OMIM:612138	Epidermolysis Bullosa Simplex With Pyloric Atresia
OMIM:612158	dilated cardiomyopathy 1AA
OMIM:612160	Angiomatoid Fibrous Histiocytoma
OMIM:612164	Epileptic Encephalopathy, Early Infantile, 4
OMIM:612165	retinitis pigmentosa 29
OMIM:612198	Diastasis Recti and Weakness of the Linea Alba
OMIM:612199	Coats plus syndrome
OMIM:612201	Atrial Fibrillation, Familial, 6
OMIM:612219	Ewing sarcoma
OMIM:612225	Maturity-onset diabetes of the young, type 9
OMIM:612227	diabetic ketoacidosis
OMIM:612229	Colorectal Cancer, Susceptibility To, 3
OMIM:612233	Leukodystrophy, hypomyelinating, 4
OMIM:612237	extraskeletal myxoid chondrosarcoma
OMIM:612240	Atrial Fibrillation, Familial, 7
OMIM:612242	Chromosome 10Q22.3-Q23.2 Deletion Syndrome
OMIM:612244	Inflammatory Bowel Disease 13
OMIM:612247	Crouzon syndrome-acanthosis nigricans syndrome
OMIM:612260	Myd88 deficiency
OMIM:612269	Epilepsy, childhood absence 5
OMIM:612278	Inflammatory bowel disease 19
OMIM:612281	Ichthyosis, Congenital, Autosomal Recessive 6
OMIM:612284	Meckel Syndrome, Type 6
OMIM:612285	Joubert syndrome 9
OMIM:612286	hypophosphatemic nephrolithiasis/osteoporosis 1
OMIM:612287	hypophosphatemic nephrolithiasis/osteoporosis 2
OMIM:612289	Progeroid syndrome, Petty type
OMIM:612290	Bilateral microtia-deafness-cleft palate syndrome
OMIM:612291	Joubert syndrome 8
OMIM:612292	Birk Barel mental retardation dysmorphism syndrome
OMIM:612300	Primary CD59 deficiency
OMIM:612301	Osteopetrosis, Autosomal Recessive 7
OMIM:612304	Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive
OMIM:612310	Premature Ovarian Failure 6
OMIM:612313	Glass Syndrome
OMIM:612319	Spastic Paraplegia 35, Autosomal Recessive
OMIM:612335	SPG38
OMIM:612336	Protein S acquired deficiency
OMIM:612337	Mental retardation, autosomal dominant 22
OMIM:612347	Jervell and Lange-Nielsen syndrome 2
OMIM:612348	THPH9
OMIM:612350	Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
OMIM:612353	POROK6
OMIM:612356	Heparin Cofactor 2 Deficiency
OMIM:612359	Cowden syndrome 2
OMIM:612370	Hypogonadotropic Hypogonadism 5 With or Without Anosmia
OMIM:612376	acute promyelocytic leukemia
OMIM:612379	Congenital Disorder of Glycosylation, Type Iq
OMIM:612389	Pontocerebellar hypoplasia type 2B
OMIM:612390	Pontocerebellar Hypoplasia, Type 2C
OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness
OMIM:612406	DYT17
OMIM:612416	Factor 11 Deficiency
OMIM:612422	Cardiomyopathy, Familial Restrictive, 3
OMIM:612423	Prekallikrein Deficiency
OMIM:612437	Epilepsy, Progressive Myoclonic, 1B
OMIM:612438	Leukodystrophy, hypomyelinating, 6
OMIM:612444	Ciliary Dyskinesia, Primary, 9
OMIM:612446	complement component 6 deficiency
OMIM:612447	Skeletal Defects, Genital Hypoplasia, and Mental Retardation
OMIM:612462	Pseudohypoparathyroidism type 1C
OMIM:612463	Pseudopseudohypoparathyroidism
OMIM:612474	1q21.1 recurrent microdeletion
OMIM:612475	chromosome 1q21.1 duplication syndrome
OMIM:612513	Chromosome 2P16.1-P15 Deletion Syndrome
OMIM:612518	Ciliary Dyskinesia, Primary, 10
OMIM:612520	Diabetes mellitus, insulin-dependent, 20
OMIM:612526	Lipodystrophy, Congenital Generalized, Type 3
OMIM:612527	Diamond-Blackfan Anemia 4
OMIM:612528	Diamond-Blackfan Anemia 5
OMIM:612529	Amelogenesis imperfecta, hypomaturation type, IIA2
OMIM:612530	chromosome 1q41-q42 deletion syndrome
OMIM:612539	Spastic Paraplegia 42, Autosomal Dominant
OMIM:612540	Myopathy, Congenital, Compton-North
OMIM:612541	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
OMIM:612551	Focal segmental glomerulosclerosis 4, susceptibility to
OMIM:612555	Breast-Ovarian Cancer, Familial, Susceptibility To, 2
OMIM:612561	Diamond-Blackfan Anemia 6
OMIM:612562	Diamond-Blackfan Anemia 7
OMIM:612563	Diamond-Blackfan anemia 8
OMIM:612567	Inflammatory Bowel Disease 25, Autosomal Recessive
OMIM:612572	Retinitis Pigmentosa 46
OMIM:612576	Chromosome 17P13.3, Telomeric, Duplication Syndrome
OMIM:612577	amyotrophic lateral sclerosis type 11
OMIM:612580	Mental Retardation, Autosomal Dominant 3
OMIM:612581	Mental Retardation, Autosomal Dominant 4
OMIM:612582	Chromosome 6Pter-P24 Deletion Syndrome
OMIM:612591	Colorectal Cancer, Susceptibility To, 10
OMIM:612621	Mental Retardation, Autosomal Dominant 5
OMIM:612626	chromosome 15q26-qter deletion syndrome
OMIM:612631	Adenylate Kinase Deficiency, Hemolytic Anemia Due to
OMIM:612643	Deafness, Autosomal Dominant 3B
OMIM:612644	Deafness, autosomal dominant 2b
OMIM:612645	autosomal recessive nonsyndromic deafness 1B
OMIM:612649	Ciliary Dyskinesia, Primary, 11
OMIM:612650	primary ciliary dyskinesia 12
OMIM:612651	Endocrine-Cerebroosteodysplasia
OMIM:612653	hereditary spherocytosis type 4
OMIM:612656	Episodic ataxia, type 6
OMIM:612657	Cone-Rod Dystrophy 12
OMIM:612671	Uric acid concentration, serum, quantitative trait locus 4
OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
OMIM:612690	Spherocytosis, Type 5
OMIM:612691	Polymicrogyria, Bilateral Temporooccipital
OMIM:612692	Agammaglobulinemia 6, Autosomal Recessive
OMIM:612702	Hypogonadotropic Hypogonadism 6 With or Without Anosmia
OMIM:612703	Microcephaly 7, Primary, Autosomal Recessive
OMIM:612712	Leber Congenital Amaurosis 13
OMIM:612713	Kahrizi Syndrome
OMIM:612714	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
OMIM:612716	Sepiapterin reductase deficiency
OMIM:612717	MYP15
OMIM:612718	Cerebral Creatine Deficiency Syndrome 3
OMIM:612726	Hardikar Syndrome
OMIM:612731	Faciocardiomelic Syndrome
OMIM:612736	guanidinoacetate methyltransferase deficiency
OMIM:612740	Porphyria, Acute Hepatic
OMIM:612775	Cone-rod dystrophy 9
OMIM:612776	Isolated congenital hypoglossia/aglossia
OMIM:612780	Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance
OMIM:612781	Isolated Growth Hormone Deficiency, Type 1B
OMIM:612782	Immune dysfunction with T-cell inactivation due to calcium entry defect 1
OMIM:612783	Immune dysfunction with T-cell inactivation due to calcium entry defect 2
OMIM:612789	DFNB71
OMIM:612794	Atrial Septal Defect 5
OMIM:612798	Question mark ears, isolated
OMIM:612813	Spondyloepimetaphyseal Dysplasia, Aggrecan Type
OMIM:612838	Brugada syndrome 5
OMIM:612840	leukocyte adhesion deficiency 3
OMIM:612843	KFSD
OMIM:612847	Spondyloepimetaphyseal dysplasia, pakistani type
OMIM:612852	Osteomyelitis, sterile multifocal, with periostitis and pustulosis
OMIM:612863	chromosome 6q24-q25 deletion syndrome
OMIM:612867	subepithelial mucinous corneal dystrophy
OMIM:612868	posterior amorphous corneal dystrophy
OMIM:612877	dilated cardiomyopathy 1BB
OMIM:612900	Cerebral Palsy, Spastic Quadriplegic, 2
OMIM:612908	Keratosis Palmoplantaris Striata 2
OMIM:612913	OFD11
OMIM:612916	Zechi-Ceide syndrome
OMIM:612917	Giacheti Syndrome
OMIM:612918	CLOVES syndrome
OMIM:612921	Three M syndrome 2
OMIM:612922	Atypical hemolytic-uremic syndrome 2
OMIM:612923	Atypical hemolytic-uremic syndrome with I factor anomaly
OMIM:612924	Atypical hemolytic-uremic syndrome 4
OMIM:612925	Atypical hemolytic-uremic syndrome 5
OMIM:612926	Atypical hemolytic-uremic syndrome 6
OMIM:612932	Glycogen storage disease due to muscle beta-enolase deficiency
OMIM:612933	Glycogen Storage Disease 11
OMIM:612936	Spastic Paraplegia 50, Autosomal Recessive
OMIM:612937	DPM3-CDG
OMIM:612938	Growth Retardation, Developmental Delay, and Facial Dysmorphism
OMIM:612940	Cutis Laxa, Autosomal Recessive, Type 2B
OMIM:612943	Retinitis Pigmentosa 42
OMIM:612946	Hadziselimovic Syndrome
OMIM:612947	Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
OMIM:612948	Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Features
OMIM:612949	Hypomyelination, global cerebral
OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly
OMIM:612952	Aicardi Goutieres syndrome 5
OMIM:612953	autosomal recessive Parkinson disease 14
OMIM:612954	myofibrillar myopathy 6
OMIM:612955	Long QT syndrome 12
OMIM:612956	Ventricular fibrillation, paroxysmal familial, 2
OMIM:612961	Multiple synostoses syndrome 3
OMIM:612964	Premature Ovarian Failure 7
OMIM:612965	46,XY sex reversal, type 3
OMIM:612989	Autosomal recessive optic atrophy, OPA7 type
OMIM:612997	CATSPER-Related Male Infertility
OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant
OMIM:612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant
OMIM:613000	Palmoplantar keratoderma, nonepidermolytic, focal
OMIM:613001	Encephalocraniocutaneous lipomatosis
OMIM:613002	Herpes Simplex Encephalitis, Susceptibility To, 2
OMIM:613005	Santos Syndrome
OMIM:613011	lymphoproliferative syndrome 1
OMIM:613013	Neuroblastoma, Susceptibility To, 2
OMIM:613021	Bronchiectasis with or without elevated sweat chloride 2
OMIM:613024	FL1
OMIM:613026	Chromosome 19Q13.11 Deletion Syndrome, Distal
OMIM:613027	Glycogen storage disease IXc
OMIM:613029	Glioma Susceptibility 3
OMIM:613038	Combined pituitary hormone deficiencies, genetic forms
OMIM:613060	Epilepsy, idiopathic generalized 10
OMIM:613065	ALL
OMIM:613068	Neurodegenerative syndrome due to cerebral folate transport deficiency
OMIM:613070	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
OMIM:613071	Bronchiectasis with or without elevated sweat chloride 3
OMIM:613073	Metaphyseal Anadysplasia 2
OMIM:613074	autosomal dominant nonsyndromic deafness 50
OMIM:613075	Macrocephaly, alopecia, cutis laxa, and scoliosis
OMIM:613076	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
OMIM:613077	Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
OMIM:613078	Nijmegen Breakage Syndrome-Like Disorder
OMIM:613079	autosomal recessive nonsyndromic deafness 77
OMIM:613080	46,Xy Sex Reversal 5
OMIM:613086	Glaucoma 3, Primary Congenital, D
OMIM:613087	Atrial Septal Defect 6
OMIM:613089	Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/Generalized Overgrowth
OMIM:613090	Bartter Syndrome, Type 4B
OMIM:613091	Short-rib thoracic dysplasia 3 with or without polydactyly
OMIM:613092	Hyperuricemic Nephropathy, Familial Juvenile, 2
OMIM:613093	Cone dystrophy 4
OMIM:613094	isolated microphthalmia 4
OMIM:613095	Polycystic Kidney Disease 2
OMIM:613096	SPG36
OMIM:613100	Glaucoma 1, open angle, O
OMIM:613101	familial hemophagocytic lymphohistiocytosis 5
OMIM:613102	Hypotrichosis and Recurrent Skin Vesicles
OMIM:613105	Choroidal dystrophy, central areolar 2
OMIM:613107	Neutropenia, Severe Congenital, 2, Autosomal Dominant
OMIM:613108	Candidiasis, Familial, 4
OMIM:613112	Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
OMIM:613115	Neuropathy, Hereditary Sensory and Autonomic, Type 2B
OMIM:613116	Thrombophilia, histidine-rich glycoprotein-related
OMIM:613118	antithrombin III deficiency
OMIM:613119	Brugada syndrome 6
OMIM:613120	Brugada syndrome 7
OMIM:613122	dilated cardiomyopathy 1CC
OMIM:613123	Brugada syndrome 8
OMIM:613124	Hydrops Fetalis, Nonimmune, With Gracile Bones and Dysmorphic Features
OMIM:613135	Parkinsonism-Dystonia, Infantile
OMIM:613144	CACD3
OMIM:613148	Inflammatory bowel disease 28, autosomal recessive
OMIM:613150	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
OMIM:613151	Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 3
OMIM:613152	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4
OMIM:613153	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
OMIM:613154	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain and Eye Anomalies), Type A, 6
OMIM:613155	Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 1
OMIM:613156	Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 2
OMIM:613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
OMIM:613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2
OMIM:613159	Nephronophthisis-like nephropathy 1
OMIM:613161	Deficiency of beta-ureidopropionase
OMIM:613162	Spastic paraplegia 45, autosomal recessive
OMIM:613163	Gaba-Transaminase Deficiency
OMIM:613172	dilated cardiomyopathy 1DD
OMIM:613174	Chromosome 5P13 Duplication Syndrome
OMIM:613177	Cutis Laxa, Autosomal Recessive, Type 1C
OMIM:613179	Purine-nucleoside phosphorylase deficiency
OMIM:613180	Cortical Dysplasia, Complex, With Other Brain Malformations 8
OMIM:613192	Mental Retardation, Autosomal Recessive 13
OMIM:613193	primary ciliary dyskinesia 13
OMIM:613194	retinitis pigmentosa 50
OMIM:613195	Weill-Marchesani-Like Syndrome
OMIM:613204	Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency
OMIM:613205	congenital muscular dystrophy due to LMNA mutation
OMIM:613206	Spastic Paraplegia 44, Autosomal Recessive
OMIM:613211	amelogenesis imperfecta hypomaturation type 2A3
OMIM:613215	Chromosome 17P13.3, Centromeric, Duplication Syndrome
OMIM:613216	Night Blindness, Congenital Stationary, Type 1C
OMIM:613217	Diarrhea 5, With Tufting Enteropathy, Congenital
OMIM:613224	Noonan syndrome 6
OMIM:613225	Factor xiii, a subunit, deficiency of
OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
OMIM:613229	trichotillomania
OMIM:613235	Factor xiii, b subunit, deficiency of
OMIM:613237	Focal Segmental Glomerulosclerosis 5
OMIM:613239	Thyrotoxic periodic paralysis 2
OMIM:613241	Pseudopili Annulati
OMIM:613243	hypertrophic cardiomyopathy 13
OMIM:613244	Hereditary nonpolyposis colorectal cancer type 8
OMIM:613251	hypertrophic cardiomyopathy 14
OMIM:613252	dilated cardiomyopathy 1EE
OMIM:613254	Tuberous sclerosis 2
OMIM:613255	Familial hypertrophic cardiomyopathy 15
OMIM:613265	Waardenburg Syndrome, Type 4B
OMIM:613266	Waardenburg Syndrome, Type 4C
OMIM:613268	Corneal Dystrophy, Fuchs Endothelial, 4
OMIM:613270	Corneal dystrophy, Fuchs endothelial, 6
OMIM:613280	Hypermanganesemia With Dystonia 1
OMIM:613282	NAFLD1
OMIM:613285	Deafness, autosomal recessive 25
OMIM:613286	dilated cardiomyopathy 1FF
OMIM:613287	Charcot-Marie-Tooth disease, type 2N
OMIM:613291	Bile acid malabsorption, primary
OMIM:613307	autosomal recessive nonsyndromic deafness 79
OMIM:613308	Diamond-Blackfan anemia 9
OMIM:613309	Diamond-Blackfan Anemia 10
OMIM:613310	Exudative vitreoretinopathy 5
OMIM:613312	Hypophosphatemic Rickets, Autosomal Recessive, 2
OMIM:613313	Hemochromatosis, Type 2B
OMIM:613319	Distal anoctaminopathy
OMIM:613320	Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
OMIM:613325	Rhabdoid tumor predisposition syndrome 2
OMIM:613327	Lipodystrophy, Congenital Generalized, Type 4
OMIM:613328	Combined immunodeficiency with facio-oculo-skeletal anomalies
OMIM:613329	Plasminogen activator inhibitor type 1 deficiency
OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
OMIM:613339	Hot water reflex epilepsy
OMIM:613341	Leber Congenital Amaurosis 14
OMIM:613342	Mseleni Joint Disease
OMIM:613345	Hypokalemic periodic paralysis, type 2
OMIM:613347	Pancreatic Cancer, Susceptibility To, 2
OMIM:613353	Mononeuropathy of the Median Nerve, Mild
OMIM:613355	Chromosome 17Q23.1-Q23.2 Deletion Syndrome
OMIM:613370	Maturity-Onset Diabetes of the Young, Type 10
OMIM:613371	spinocerebellar ataxia type 30
OMIM:613375	Maturity-Onset Diabetes of the Young, Type 11
OMIM:613376	Neuronopathy, Distal Hereditary Motor, Type 2C
OMIM:613382	Brachydactyly, Type E2
OMIM:613385	Autoimmune disease, syndromic multisystem
OMIM:613387	NAFLD2
OMIM:613388	Fanconi Renotubular Syndrome 2
OMIM:613390	Fanconi anemia, complementation group O
OMIM:613391	autosomal recessive nonsyndromic deafness 84A
OMIM:613398	Warsaw Breakage Syndrome
OMIM:613402	Microcephaly, Seizures, and Developmental Delay
OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2
OMIM:613406	Witteveen-kolk syndrome
OMIM:613411	Oguchi disease 2
OMIM:613412	EOE2
OMIM:613418	Bone mineral density quantitative trait locus 15
OMIM:613424	dilated cardiomyopathy 1R
OMIM:613426	dilated cardiomyopathy 1S
OMIM:613428	Retinitis Pigmentosa 54
OMIM:613435	amyotrophic lateral sclerosis type 12
OMIM:613443	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
OMIM:613444	Chromosome 16P11.2 Deletion Syndrome, 220-Kb
OMIM:613451	Frontonasal Dysplasia 2
OMIM:613453	Deafness, Autosomal Recessive 91
OMIM:613454	Rett Syndrome, Congenital Variant
OMIM:613456	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
OMIM:613457	chromosome 14q11-q22 deletion syndrome
OMIM:613458	chromosome 16p13.3 duplication syndrome
OMIM:613464	retinitis pigmentosa 51
OMIM:613470	Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency
OMIM:613471	Reynolds syndrome
OMIM:613477	Epileptic Encephalopathy, Early Infantile, 5
OMIM:613480	Lymphedema, Hereditary, 1C
OMIM:613485	Long Qt Syndrome 13
OMIM:613488	myxoid liposarcoma
OMIM:613489	COG4-CDG
OMIM:613490	Alpha-1-Antitrypsin Deficiency
OMIM:613493	Immunodeficiency, Common Variable, 3
OMIM:613494	Immunodeficiency, Common Variable, 4
OMIM:613495	Common variable immunodeficiency 5
OMIM:613496	Common variable immunodeficiency 6
OMIM:613500	Agammaglobulinemia 2, Autosomal Recessive
OMIM:613501	Agammaglobulinemia 3, Autosomal Recessive
OMIM:613502	Agammaglobulinemia 4, Autosomal Recessive
OMIM:613506	Agammaglobulinemia 5, autosomal dominant
OMIM:613507	glycogen storage disease XV
OMIM:613509	Chromosome 4Q21 Deletion Syndrome
OMIM:613517	isolated microphthalmia 6
OMIM:613530	LGMD1H
OMIM:613533	Chromosome 17Q21.31 Duplication Syndrome
OMIM:613544	Chromosome 6Q11-Q14 Deletion Syndrome
OMIM:613546	Aromatase deficiency
OMIM:613550	Nephronophthisis 11
OMIM:613554	von Willebrand disease type 2
OMIM:613558	Deafness, Autosomal Dominant 51
OMIM:613559	Combined Oxidative Phosphorylation Deficiency 7
OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2
OMIM:613563	Noonan Syndrome-Like Disorder With or Without Juvenile Myelomonocytic Leukemia
OMIM:613571	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OMIM:613573	Ectodermal Dysplasia-Syndactyly Syndrome 1
OMIM:613575	Retinitis Pigmentosa 55
OMIM:613576	Ectodermal dysplasia-cutaneous syndactyly syndrome
OMIM:613581	Retinitis Pigmentosa 56
OMIM:613582	Retinitis Pigmentosa 57
OMIM:613587	occult macular dystrophy
OMIM:613603	Chromosome 4Q32.1-Q32.2 Triplication Syndrome
OMIM:613604	Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb
OMIM:613606	FWS
OMIM:613608	FAME3
OMIM:613610	Cranioectodermal dysplasia 2
OMIM:613611	Choanal Atresia and Lymphedema
OMIM:613612	COG5-CDG
OMIM:613615	Senior-Loken syndrome 7
OMIM:613616	Primary hyperoxaluria type 3
OMIM:613617	Retinitis Pigmentosa 58
OMIM:613618	Chromosome 17Q23.1-Q23.2 Duplication Syndrome
OMIM:613623	Agenesis of the Corpus Callosum and Congenital Lymphedema
OMIM:613625	Factor 5 and Factor Viii, Combined Deficiency Of, 2
OMIM:613627	Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation
OMIM:613628	Odontoid Hypoplasia
OMIM:613630	Cocoon Syndrome
OMIM:613638	chromosome 19p13.13 deletion syndrome
OMIM:613640	Hereditary sensory and autonomic neuropathy type IC
OMIM:613641	Charcot-Marie-Tooth Disease, Recessive Intermediate B
OMIM:613642	dilated cardiomyopathy 1GG
OMIM:613646	methylmalonic acidemia due to transcobalamin receptor defect
OMIM:613647	Spastic paraplegia 48, autosomal recessive
OMIM:613652	C1q deficiency
OMIM:613657	D-2-hydroxyglutaric aciduria 2
OMIM:613658	Brain calcification, Rajab type
OMIM:613659	stomach carcinoma
OMIM:613660	Cone-Rod Dystrophy 15
OMIM:613661	Congenital disorder of glycosylation type 1P
OMIM:613662	Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
OMIM:613668	Microcephaly, Postnatal Progressive, With Seizures and Brain Atrophy
OMIM:613670	Mental retardation with language impairment and with or without autistic features
OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus
OMIM:613672	Spastic Ataxia 4, Autosomal Recessive
OMIM:613673	Anemia, Congenital Dyserythropoietic, Type 4
OMIM:613674	Vesicoureteral Reflux 3
OMIM:613675	Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb
OMIM:613676	Seckel syndrome 4
OMIM:613677	Familial hyperaldosteronism type III
OMIM:613678	Brachyolmia, Maroteaux type
OMIM:613679	prothrombin deficiency
OMIM:613680	Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
OMIM:613681	chromosome 2q31.1 duplication syndrome
OMIM:613684	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OMIM:613686	Spondylocostal Dysostosis 4, Autosomal Recessive
OMIM:613688	Long Qt Syndrome 2
OMIM:613689	MDNS
OMIM:613690	Cardiomyopathy, Familial Hypertrophic, 7
OMIM:613693	long QT syndrome 6
OMIM:613694	dilated cardiomyopathy 1U
OMIM:613695	Long Qt Syndrome 5
OMIM:613697	dilated cardiomyopathy 1V
OMIM:613702	Klippel-Feil Syndrome 3, Autosomal Dominant
OMIM:613703	Microphthalmia, Isolated, With Coloboma 6
OMIM:613704	Microphthalmia, Isolated 7
OMIM:613705	Orofacial cleft 10
OMIM:613706	Noonan syndrome 7
OMIM:613707	LEOPARD syndrome 3
OMIM:613708	Hereditary sensory neuropathy type 1D
OMIM:613710	Striatal necrosis, bilateral, and progressive polyneuropathy
OMIM:613717	Treacher Collins syndrome 2
OMIM:613718	autosomal recessive nonsyndromic deafness 74
OMIM:613720	Epileptic Encephalopathy, Early Infantile, 7
OMIM:613721	Epileptic Encephalopathy, Early Infantile, 11
OMIM:613722	Epileptic Encephalopathy, Early Infantile, 12
OMIM:613723	Limb-girdle muscular dystrophy, type 2Q
OMIM:613724	Leukoencephalopathy-dystonia-motor neuropathy syndrome
OMIM:613728	autosomal recessive spinocerebellar ataxia 10
OMIM:613729	Chromosome 7Q11.23 Deletion Syndrome, Distal, 1.2-Mb
OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
OMIM:613731	Retinitis pigmentosa 4
OMIM:613735	Brain Malformations and Urinary Tract Defects
OMIM:613736	Acne Inversa, Familial, 2
OMIM:613737	Acne inversa, familial, 3
OMIM:613740	dilated cardiomyopathy 1T
OMIM:613743	Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial or Complete
OMIM:613744	Spastic paraplegia 51, autosomal recessive
OMIM:613750	Retinitis Pigmentosa 27
OMIM:613751	Heterotaxy, visceral, 4, autosomal
OMIM:613752	Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency
OMIM:613756	Retinitis Pigmentosa 49
OMIM:613757	age related macular degeneration 6
OMIM:613758	Retinitis Pigmentosa 47
OMIM:613759	Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations
OMIM:613762	46,XY sex reversal, type 6
OMIM:613763	Cataract 16, Multiple Types
OMIM:613765	hypertrophic cardiomyopathy 9
OMIM:613767	Retinitis Pigmentosa 45
OMIM:613769	Retinitis Pigmentosa 44
OMIM:613776	chromosome 17p13.1 deletion syndrome
OMIM:613779	complement component 3 deficiency
OMIM:613780	Aortic aneurysm, familial thoracic 7
OMIM:613783	Complement Component C1S Deficiency
OMIM:613789	Complement Component 8 Deficiency, Type 2
OMIM:613790	Complement Component 8 Deficiency, Type 1
OMIM:613791	Immunodeficiency due to MASP-2 deficiency
OMIM:613792	3p- syndrome
OMIM:613794	Retinitis Pigmentosa 20
OMIM:613795	Aneurysm-osteoarthritis syndrome
OMIM:613796	Susceptibility to viral and mycobacterial infections
OMIM:613800	Meier-Gorlin syndrome 2
OMIM:613801	retinitis pigmentosa 40
OMIM:613803	Meier-Gorlin Syndrome 3
OMIM:613804	Meier-Gorlin Syndrome 4
OMIM:613805	Meier-Gorlin syndrome 5
OMIM:613807	primary ciliary dyskinesia 14
OMIM:613808	primary ciliary dyskinesia 15
OMIM:613809	retinitis pigmentosa 39
OMIM:613810	Retinitis Pigmentosa 43
OMIM:613811	Pontocerebellar hypoplasia type 2D
OMIM:613812	Bile Acid Synthesis Defect, Congenital, 3
OMIM:613818	Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
OMIM:613819	Asphyxiating thoracic dystrophy 4
OMIM:613820	Nephronophthisis 12
OMIM:613823	Seckel syndrome 5
OMIM:613824	Nephronophthisis 9
OMIM:613825	Complement Component 9 Deficiency
OMIM:613826	Leber Congenital Amaurosis 6
OMIM:613827	Retinitis Pigmentosa 48
OMIM:613829	Leber Congenital Amaurosis 7
OMIM:613830	Night Blindness, Congenital Stationary, Type 1D
OMIM:613834	Multisystemic Smooth Muscle Dysfunction Syndrome
OMIM:613835	Leber Congenital Amaurosis 8
OMIM:613837	Leber Congenital Amaurosis 11
OMIM:613838	hypertrophic cardiomyopathy 16
OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency
OMIM:613843	Leber Congenital Amaurosis 15
OMIM:613845	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
OMIM:613848	Osteogenesis imperfecta type 10
OMIM:613849	Osteogenesis Imperfecta, Type 12
OMIM:613854	dextro-looped transposition of the great arteries 3
OMIM:613855	Episodic ataxia, type 5
OMIM:613856	achromatopsia 4
OMIM:613860	Immunodeficiency due to ficolin3 deficiency
OMIM:613861	Retinitis Pigmentosa 59
OMIM:613862	Retinitis Pigmentosa 38
OMIM:613863	Generalized epilepsy with febrile seizures plus, type 7
OMIM:613865	Deafness, Autosomal Recessive 61
OMIM:613869	Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction
OMIM:613873	hypertrophic cardiomyopathy 17
OMIM:613874	Cardiomyopathy, Familial Hypertrophic, 18
OMIM:613875	Cardiomyopathy, Familial Hypertrophic, 19
OMIM:613876	Cardiomyopathy, Familial Hypertrophic, 20
OMIM:613877	Lipodystrophy, Familial Partial, Type 4
OMIM:613881	dilated cardiomyopathy 1HH
OMIM:613882	Hypomagnesemia 6, renal
OMIM:613884	chromosome 13q14 deletion syndrome
OMIM:613885	Meckel syndrome type 8
OMIM:613886	Obesity, hyperphagia, and developmental delay
OMIM:613887	cataract 36
OMIM:613908	Spinocerebellar Ataxia 35
OMIM:613912	Recurrent Neisseria infections due to factor D deficiency
OMIM:613913	APLDC3
OMIM:613916	autosomal recessive nonsyndromic deafness 89
OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2a
OMIM:613926	Megalencephalic Leukoencephalopathy With Subcortical Cysts 2B, Remitting, With or Without Mental Retardation
OMIM:613930	APMR3
OMIM:613933	ACACAD
OMIM:613938	PSMNSW
OMIM:613943	autosomal recessive congenital ichthyosis 8
OMIM:613944	IGAN2
OMIM:613949	Okt4 Epitope Deficiency
OMIM:613950	Schizophrenia 15
OMIM:613951	Fanconi anemia, complementation group P
OMIM:613953	Candidiasis, Familial, 5
OMIM:613954	Amyotrophic Lateral Sclerosis 14 With or Without Frontotemporal Dementia
OMIM:613955	Amyloidosis, primary localized cutaneous, 2
OMIM:613956	Candidiasis, Familial, 6
OMIM:613957	Spermatogenic failure 8
OMIM:613958	Spermatogenic Failure 9
OMIM:613960	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
OMIM:613969	MYP19
OMIM:613970	Mental Retardation, Autosomal Dominant 6, With or Without Seizures
OMIM:613977	Cyanosis, transient neonatal
OMIM:613978	Hemoglobin H Disease
OMIM:613980	Atrial Fibrillation, Familial, 9
OMIM:613981	hypotrichosis 3
OMIM:613982	Osteogenesis imperfecta, type VI
OMIM:613983	retinitis pigmentosa 60
OMIM:613985	Beta-Thalassemia
OMIM:613986	Pituitary hormone deficiency, combined 6
OMIM:613987	Dyskeratosis congenita, autosomal recessive 2
OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3
OMIM:613989	Dyskeratosis Congenita, Autosomal Dominant 2
OMIM:613990	Dyskeratosis Congenita, Autosomal Dominant 3
OMIM:614008	Nestor-Guillermo Progeria Syndrome
OMIM:614009	Bleeding Disorder, Platelet-Type, 13, Susceptibility to
OMIM:614017	primary ciliary dyskinesia 16
OMIM:614018	Epilepsy, progressive myoclonic 6
OMIM:614019	Lissencephaly 4
OMIM:614020	Mental Retardation, Autosomal Recessive 14
OMIM:614021	catecholaminergic polymorphic ventricular tachycardia 3
OMIM:614022	Atrial Fibrillation, Familial, 10
OMIM:614023	Deficiency of phosphoserine phosphatase
OMIM:614025	Hepatic lipase deficiency
OMIM:614028	Apolipoprotein C-Iii Deficiency
OMIM:614033	Hydroxyacyl Glutathione Hydrolase Deficiency
OMIM:614034	Heme Oxygenase 1 Deficiency
OMIM:614035	Deafness, Autosomal Recessive 29
OMIM:614037	Leukotriene C4 Synthase Deficiency
OMIM:614038	Lymphedema, Primary, With Myelodysplasia
OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1
OMIM:614042	Moyamoya Disease 5
OMIM:614044	Trypsinogen Deficiency
OMIM:614049	Atrial Fibrillation, Familial, 11
OMIM:614050	Atrial Fibrillation, Familial, 12
OMIM:614052	Mitochondrial Complex 5 (Atp Synthase) Deficiency, Nuclear Type 2
OMIM:614053	Mitochondrial Complex 5 (Atp Synthase) Deficiency, Nuclear Type 3
OMIM:614055	Acetyl-Coa Acetyltransferase-2 Deficiency
OMIM:614063	N-acetylaspartate deficiency
OMIM:614065	Myopathy, distal, 4
OMIM:614066	Spastic Paraplegia 47, Autosomal Recessive
OMIM:614067	hereditary spastic paraplegia 52
OMIM:614069	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
OMIM:614072	Hermansky-Pudlak syndrome 3
OMIM:614073	Hermansky-Pudlak syndrome 4
OMIM:614074	Hermansky-Pudlak Syndrome 5
OMIM:614075	Hermansky-Pudlak Syndrome 6
OMIM:614076	Hermansky-Pudlak syndrome 7
OMIM:614077	Hermansky-Pudlak syndrome 8
OMIM:614078	Chondrodysplasia With Joint Dislocations, Gpapp Type
OMIM:614080	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
OMIM:614082	Fanconi anemia, complementation group G
OMIM:614083	Fanconi Anemia, Complementation Group 50
OMIM:614087	Moved to 227650 and 609644
OMIM:614089	Atrial Septal Defect 3
OMIM:614091	short-rib thoracic dysplasia 7 with or without polydactyly
OMIM:614096	Combined oxidative phosphorylation deficiency 8
OMIM:614097	Acatalasemia
OMIM:614098	Keppen-Lubinsky syndrome
OMIM:614099	Cranioectodermal dysplasia 3
OMIM:614100	Cutis laxa-Marfanoid syndrome
OMIM:614102	Immunoglobulin kappa light chain deficiency
OMIM:614103	Lipedema
OMIM:614104	Mental Retardation, Autosomal Dominant 7
OMIM:614105	Methylmalonate Semialdehyde Dehydrogenase Deficiency
OMIM:614111	Pyruvate dehydrogenase E1-beta deficiency
OMIM:614113	Mental Retardation, Autosomal Dominant 2
OMIM:614114	Mosaic variegated aneuploidy syndrome 2
OMIM:614115	Occipital pachygyria and polymicrogyria
OMIM:614116	Neuropathy, Hereditary Sensory, Type 1E
OMIM:614120	Hydrolethalus Syndrome 2
OMIM:614128	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
OMIM:614129	Perrault Syndrome 3
OMIM:614131	Focal Segmental Glomerulosclerosis 6
OMIM:614134	Stickler syndrome, type 4
OMIM:614135	Epiphyseal Dysplasia, Multiple, 6
OMIM:614149	NDNC9
OMIM:614152	Deafness, Autosomal Dominant 64
OMIM:614153	Spinocerebellar Ataxia 36
OMIM:614156	Hyperbiliverdinemia
OMIM:614157	Nail Disorder, Nonsyndromic Congenital, 10
OMIM:614158	Bleeding Disorder, Platelet-Type, 14
OMIM:614160	Muscle Hypertrophy
OMIM:614162	Immunodeficiency 31C
OMIM:614164	GPXD
OMIM:614165	Paragangliomas 5
OMIM:614167	Myopia 21, Autosomal Dominant
OMIM:614170	Brittle cornea syndrome 2
OMIM:614171	Hermansky-Pudlak Syndrome 9
OMIM:614172	Immunodeficiency 21
OMIM:614173	Joubert syndrome 13
OMIM:614175	Meckel Syndrome, Type 10
OMIM:614180	retinitis pigmentosa 61
OMIM:614181	retinitis pigmentosa 62
OMIM:614185	Geleophysic Dysplasia 2
OMIM:614186	Leber Congenital Amaurosis 16
OMIM:614187	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
OMIM:614188	Craniosynostosis and dental anomalies
OMIM:614190	Pigmented Nodular Adrenocortical Disease, Primary, 3
OMIM:614192	Macrocephaly, macrosomia, facial dysmorphism syndrome
OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome
OMIM:614196	Nephrotic syndrome, type 6
OMIM:614198	Congenital myasthenic syndrome, acetazolamide-responsive
OMIM:614199	Nephrotic syndrome, type 5, with or without ocular abnormalities
OMIM:614200	BDPLT9
OMIM:614201	Bleeding diathesis due to glycoprotein VI deficiency
OMIM:614202	Mental Retardation, Autosomal Recessive 15
OMIM:614203	Parkinson Disease 17
OMIM:614204	Psoriasis 14, Pustular
OMIM:614205	Three M syndrome 3
OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3
OMIM:614209	Meckel syndrome, type 9
OMIM:614211	autosomal dominant nonsyndromic deafness 33
OMIM:614212	Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
OMIM:614213	Neuropathy, Hereditary Sensory, Type 2C
OMIM:614219	Adams-Oliver Syndrome 2
OMIM:614222	Warburg micro syndrome 3
OMIM:614224	Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
OMIM:614225	Warburg Micro Syndrome 2
OMIM:614226	Holoprosencephaly 11
OMIM:614227	HNFJ3
OMIM:614228	Charcot-Marie-Tooth disease axonal type 20
OMIM:614229	Spinocerebellar Ataxia, Autosomal Recessive 11
OMIM:614230	Chromosome 8Q21.11 Deletion Syndrome
OMIM:614231	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
OMIM:614233	Familial progressive hyperpigmentation
OMIM:614249	Mental Retardation, Autosomal Recessive 18
OMIM:614250	Narcolepsy 7
OMIM:614251	Parkinson disease 18
OMIM:614254	Mental Retardation, Autosomal Dominant 8
OMIM:614255	Mental Retardation, Autosomal Dominant 9
OMIM:614256	Mental retardation, autosomal dominant 10
OMIM:614257	Mental retardation, autosomal dominant 11
OMIM:614261	Microcephaly-Capillary Malformation Syndrome
OMIM:614262	Arthrogryposis, Perthes Disease, and Upward Gaze Palsy
OMIM:614265	Combined malonic and methylmalonic acidemia
OMIM:614266	Barrett's esophagus
OMIM:614278	Platelet-Activating Factor Acetylhydrolase Deficiency
OMIM:614279	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
OMIM:614280	EJM9
OMIM:614284	Stickler syndrome, type 5
OMIM:614286	Myelodysplastic Syndrome
OMIM:614290	Tetrasomy 18P
OMIM:614292	Myopia, High, With Cataract and Vitreoretinal Degeneration
OMIM:614294	Chromosome 15Q25 Deletion Syndrome
OMIM:614296	Wolfram-like syndrome, autosomal dominant
OMIM:614298	neurodegeneration with brain iron accumulation 4
OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2
OMIM:614300	Hypermethioninemia encephalopathy due to adenosine kinase deficiency
OMIM:614302	Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
OMIM:614303	EDICT syndrome
OMIM:614305	sclerosteosis 2
OMIM:614306	Cognitive Impairment With or Without Cerebellar Ataxia
OMIM:614307	Alpha-methylacyl-CoA racemase deficiency
OMIM:614321	Distal myopathy, Tateyama type
OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12
OMIM:614323	LWNH
OMIM:614324	Ovarian Dysgenesis 3
OMIM:614325	Pitt-Hopkins-Like Syndrome 2
OMIM:614326	Feingold syndrome type 2
OMIM:614327	Tumor Predisposition Syndrome
OMIM:614328	Inflammatory skin and bowel disease, neonatal 1
OMIM:614329	MRT31
OMIM:614331	Colorectal Cancer, Hereditary Nonpolyposis, Type 6
OMIM:614335	Arthrogryposis, Distal, Type 1B
OMIM:614337	Colorectal Cancer, Hereditary Nonpolyposis, Type 4
OMIM:614338	Pancreatic triacylglycerol lipase deficiency
OMIM:614340	Mental Retardation, Autosomal Recessive 27
OMIM:614350	Colorectal Cancer, Hereditary Nonpolyposis, Type 5
OMIM:614369	Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss
OMIM:614370	Surfactant metabolism dysfunction, pulmonary, 5
OMIM:614373	Amyotrophic Lateral Sclerosis 16, Juvenile
OMIM:614376	Short-Rib Thoracic Dysplasia 5 With or Without Polydactyly
OMIM:614377	Nephronophthisis 13
OMIM:614378	Cranioectodermal dysplasia 4
OMIM:614379	Complement Component 4B Deficiency
OMIM:614380	Complement Component 4A Deficiency
OMIM:614381	Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism
OMIM:614385	Colorectal Cancer, Hereditary Nonpolyposis, Type 7
OMIM:614388	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1
OMIM:614389	Pregnancy Loss, Recurrent, Susceptibility To, 1
OMIM:614390	Pregnancy Loss, Recurrent, Susceptibility To, 2
OMIM:614391	Pregnancy loss, recurrent, susceptibility to, 3
OMIM:614399	Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset
OMIM:614402	Microphthalmia, syndromic 11
OMIM:614407	MCHCCD
OMIM:614408	Myopathy, Centronuclear, 3
OMIM:614409	Spastic paraplegia 46, autosomal recessive
OMIM:614414	autosomal recessive nonsyndromic deafness 96
OMIM:614415	Chilblain lupus 2
OMIM:614416	Radiohumeral fusions with other skeletal and craniofacial anomalies
OMIM:614417	familial temporal lobe epilepsy 5
OMIM:614418	Febrile seizures, familial, 11
OMIM:614420	Systemic Lupus Erythematosus 16
OMIM:614422	cataract 37
OMIM:614424	Joubert syndrome 14
OMIM:614429	Ventricular septal defect 1
OMIM:614430	Atrioventricular septal defect 4
OMIM:614431	Ventricular septal defect 2
OMIM:614432	Ventricular septal defect 3
OMIM:614433	Atrial septal defect 8
OMIM:614434	Cutis laxa, autosomal dominant 2
OMIM:614435	Hypoplastic Left Heart Syndrome 2
OMIM:614436	Charcot-Marie-Tooth disease type 2P
OMIM:614437	Cutis Laxa, Autosomal Recessive, Type 1B
OMIM:614438	Autosomal recessive cutis laxa type 3B
OMIM:614441	Primary hypertrophic osteoarthropathy, autosomal recessive 2
OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6
OMIM:614455	Charcot-Marie-Tooth disease dominant intermediate E
OMIM:614456	Melanoma, Cutaneous Malignant, Susceptibility To, 8
OMIM:614457	Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
OMIM:614462	Lipoic acid synthetase deficiency
OMIM:614464	Joubert Syndrome 15
OMIM:614465	Joubert Syndrome 16
OMIM:614468	Familial Cold Autoinflammatory Syndrome 3
OMIM:614470	RAS-associated autoimmune leukoproliferative disorder
OMIM:614473	Generalized arterial calcification of infancy 2
OMIM:614474	Atrioventricular septal defect 5
OMIM:614475	atrial heart septal defect 9
OMIM:614480	Hypertriglyceridemia, Transient Infantile
OMIM:614482	Congenital Cataracts, Hearing Loss, and Neurodegeneration
OMIM:614483	Porencephaly 2
OMIM:614485	Trigonocephaly 2
OMIM:614486	Thrombophilia Due to Thrombomodulin Defect
OMIM:614487	Spastic Ataxia 5, Autosomal Recessive
OMIM:614491	Pseudohypoaldosteronism type 2B
OMIM:614492	Pseudohypoaldosteronism type 2C
OMIM:614493	Wiskott-Aldrich Syndrome 2
OMIM:614494	retinitis pigmentosa 63
OMIM:614495	Pseudohypoaldosteronism type 2D
OMIM:614496	Pseudohypoaldosteronism type 2E
OMIM:614497	Microphthalmia, Isolated, With Coloboma 7
OMIM:614498	Lethal neonatal spasticity-epileptic encephalopathy syndrome
OMIM:614499	Mental Retardation, Autosomal Recessive 34
OMIM:614500	Cone-Rod Dystrophy 16
OMIM:614501	Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
OMIM:614504	Usher syndrome, type 3B
OMIM:614507	Congenital Disorder of Glycosylation, Type Ir
OMIM:614508	Mirror movements 2
OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive
OMIM:614520	Encephalomyopathy, Mitochondrial, Due to Voltage-Dependent Anion Channel Deficiency
OMIM:614521	Thrombocythemia 3
OMIM:614524	Fibrochondrogenesis 2
OMIM:614526	Chromosome 17Q12 Duplication Syndrome
OMIM:614527	chromosome 17q12 deletion syndrome
OMIM:614541	Chromosome 16Q22 Deletion Syndrome
OMIM:614557	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
OMIM:614558	Epileptic Encephalopathy, Early Infantile, 13
OMIM:614559	infantile cerebellar-retinal degeneration
OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts
OMIM:614562	Mental retardation, autosomal dominant 12
OMIM:614563	Mental retardation, autosomal dominant 13
OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial
OMIM:614565	Night Blindness, Congenital Stationary, Type 1E
OMIM:614569	Maffucci syndrome
OMIM:614575	CANVAS
OMIM:614576	Congenital disorder of glycosylation type 2L
OMIM:614582	Combined oxidative phosphorylation deficiency 9
OMIM:614583	Baraitser-Winter Syndrome 2
OMIM:614588	DYT21
OMIM:614592	Bent bone dysplasia syndrome
OMIM:614594	Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques
OMIM:614595	Preeclampsia/eclampsia 5
OMIM:614602	Trichohepatoenteric syndrome 2
OMIM:614607	Mental Retardation, Autosomal Dominant 14
OMIM:614608	Mental Retardation, Autosomal Dominant 15
OMIM:614609	Mental Retardation, Autosomal Dominant 16
OMIM:614613	Acrodysostosis 2, with or without hormone resistance
OMIM:614614	Deafness, Autosomal Dominant 4B
OMIM:614615	Joubert Syndrome 17
OMIM:614616	Diarrhea 6
OMIM:614617	autosomal recessive nonsyndromic deafness 86
OMIM:614618	Hyperekplexia 3
OMIM:614619	Hyperekplexia 2
OMIM:614621	UV-sensitive syndrome 2
OMIM:614622	KTCN5
OMIM:614623	KTCN6
OMIM:614628	KTCN8
OMIM:614629	KTCN7
OMIM:614640	UV-sensitive syndrome 3
OMIM:614643	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain and Eye Anomalies), Type A, 7
OMIM:614650	Coenzyme Q10 deficiency, primary, 6
OMIM:614651	Coenzyme Q10 Deficiency, Primary, 2
OMIM:614652	Coenzyme Q10 Deficiency, Primary, 3
OMIM:614653	Hereditary sensory and autonomic neuropathy type 6
OMIM:614654	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
OMIM:614662	Cortisone reductase deficiency 2
OMIM:614665	Meconium Ileus
OMIM:614669	Auriculocondylar Syndrome 2
OMIM:614672	Cardiomyopathy, dilated, 2b
OMIM:614673	Primary autosomal recessive microcephaly 8
OMIM:614674	Periodic Fever, Menstrual Cycle-Dependent
OMIM:614675	Bone Marrow Failure Syndrome 1
OMIM:614676	CMH21
OMIM:614678	Pontocerebellar Hypoplasia, Type 1B
OMIM:614679	primary ciliary dyskinesia 17
OMIM:614684	Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes
OMIM:614688	Pontine Tegmental Cap Dysplasia
OMIM:614691	Cataract, autosomal recessive congenital 5
OMIM:614696	Amyotrophic lateral sclerosis 17
OMIM:614699	Immunodeficiency, Common Variable, 7
OMIM:614700	Immunodeficiency, Common Variable, 8, With Autoimmunity
OMIM:614701	Cornelia De Lange Syndrome 4
OMIM:614702	Combined oxidative phosphorylation deficiency 10
OMIM:614706	neuronal ceroid lipofuscinosis 11
OMIM:614707	Brown-Vialetto-Van Laere Syndrome 2
OMIM:614714	Porokeratosis 7, multiple types
OMIM:614723	Adenine phosphoribosyltransferase deficiency
OMIM:614727	Congenital Disorder of Glycosylation, Type Iik
OMIM:614728	Seckel Syndrome 6
OMIM:614732	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies
OMIM:614736	Glucocorticoid Deficiency 4 With or Without Mineralocorticoid Deficiency
OMIM:614739	3-Methylglutaconic Aciduria With Deafness, Encephalopathy, and Leigh-Like Syndrome
OMIM:614741	Mitochondrial Pyruvate Carrier Deficiency
OMIM:614742	Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
OMIM:614743	Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
OMIM:614744	Facial Paresis, Hereditary Congenital, 3
OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2
OMIM:614750	Myasthenic Syndrome, Congenital, 13
OMIM:614751	Distal hereditary motor neuronopathy type 5B
OMIM:614753	Malan overgrowth syndrome
OMIM:614756	nonprogressive cerebellar atxia with mental retardation
OMIM:614779	Heterotaxy, visceral, 6, autosomal
OMIM:614782	Tremor, hereditary essential, 4
OMIM:614800	Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly
OMIM:614807	Myopathy, Centronuclear, 4
OMIM:614808	Amyotrophic Lateral Sclerosis 18
OMIM:614809	Cfhr5 Deficiency
OMIM:614813	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
OMIM:614814	Adams-Oliver syndrome 3
OMIM:614815	Joubert Syndrome 18
OMIM:614816	Loeys-Dietz syndrome 4
OMIM:614817	Interstitial nephritis, karyomegalic
OMIM:614819	Weill-Marchesani Syndrome 3
OMIM:614820	Alternating Hemiplegia of Childhood 2
OMIM:614822	Spermatogenic Failure 10
OMIM:614823	Aortic Valve Disease 2
OMIM:614826	NYS7
OMIM:614830	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
OMIM:614831	Spinocerebellar Ataxia, Autosomal Recessive 13
OMIM:614832	amelogenesis imperfecta hypomaturation type 2A4
OMIM:614833	Microcephaly, Short Stature, and Polymicrogyria With or Without Seizures
OMIM:614837	Hypogonadotropic Hypogonadism 8 With or Without Anosmia
OMIM:614838	Hypogonadotropic Hypogonadism 9 With or Without Anosmia
OMIM:614839	Hypogonadotropic hypogonadism 10 with or without anosmia
OMIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia
OMIM:614841	hypogonadotropic hypogonadism 12 with or without anosmia
OMIM:614842	Hypogonadotropic Hypogonadism 13 With or Without Anosmia
OMIM:614844	Nephronophthisis 14
OMIM:614845	Nephronophthisis 15
OMIM:614847	Epilepsy, idiopathic generalized, susceptibility to, 12
OMIM:614850	Herpes simplex encephalitis, susceptibility to, 4
OMIM:614851	Seckel Syndrome 7
OMIM:614852	Primary autosomal recessive microcephaly 9
OMIM:614856	Osteogenesis Imperfecta, Type 13
OMIM:614857	Methylmalonic acidemia with homocystinuria, type cblJ
OMIM:614858	Hypogonadotropic Hypogonadism 14 With or Without Anosmia
OMIM:614859	Peroxisome biogenesis disorder 3A
OMIM:614860	dystonia 23
OMIM:614861	autosomal recessive nonsyndromic deafness 98
OMIM:614862	Peroxisome biogenesis disorder 4a (zellweger)
OMIM:614863	Peroxisome Biogenesis Disorder 4B
OMIM:614866	Peroxisome biogenesis disorder 5a (zellweger)
OMIM:614867	Peroxisome Biogenesis Disorder 5B
OMIM:614868	Combined immunodeficiency due to STK4 deficiency
OMIM:614869	Usher Syndrome, Type 1J
OMIM:614870	Peroxisome Biogenesis Disorder 6A (Zellweger)
OMIM:614871	Peroxisome Biogenesis Disorder 6B
OMIM:614872	Peroxisome Biogenesis Disorder 7A (Zellweger)
OMIM:614873	Peroxisome Biogenesis Disorder 7B
OMIM:614874	primary ciliary dyskinesia 18
OMIM:614876	Peroxisome biogenesis disorder 8A
OMIM:614877	Peroxisome Biogenesis Disorder 8B
OMIM:614878	Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated
OMIM:614879	Peroxisome Biogenesis Disorder 9B
OMIM:614880	Hypogonadotropic Hypogonadism 15 With or Without Anosmia
OMIM:614881	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
OMIM:614882	Peroxisome biogenesis disorder 10A
OMIM:614883	Peroxisome biogenesis disorder 11A
OMIM:614885	Peroxisome biogenesis disorder 11B
OMIM:614886	Peroxisome biogenesis disorder 12A
OMIM:614887	Peroxisome Biogenesis Disorder 13A (Zellweger)
OMIM:614889	Immunodeficiency 28
OMIM:614890	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
OMIM:614891	Immunodeficiency 30
OMIM:614892	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
OMIM:614893	Immunodeficiency 32A
OMIM:614894	Immunodeficiency 32B
OMIM:614895	Charcot-Marie-Tooth disease type 4F
OMIM:614896	Sinoatrial Node Dysfunction and Deafness
OMIM:614897	hypogonadotropic hypogonadism 16 with or without anosmia
OMIM:614898	Spastic paraplegia 53, autosomal recessive
OMIM:614899	Deafness, Autosomal Recessive 93
OMIM:614900	Diamond-Blackfan anemia 11
OMIM:614915	Lethal congenital contracture syndrome 4
OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4
OMIM:614920	Peroxisome Biogenesis Disorder 14B
OMIM:614921	PGM1-CDG
OMIM:614922	Combined Oxidative Phosphorylation Deficiency 11
OMIM:614923	Branched-chain keto acid dehydrogenase kinase deficiency
OMIM:614924	Combined Oxidative Phosphorylation Deficiency 12
OMIM:614926	Perrault Syndrome 2
OMIM:614927	ECTD5
OMIM:614928	ECTD6
OMIM:614929	Ectodermal dysplasia 7, hair/nail type
OMIM:614931	Ectodermal dysplasia 9, hair/nail type
OMIM:614932	Combined oxidative phosphorylation defect type 13
OMIM:614934	Deafness, Autosomal Recessive 70
OMIM:614935	primary ciliary dyskinesia 19
OMIM:614936	PPKP1B
OMIM:614937	Familial cortical myoclonus
OMIM:614940	Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
OMIM:614941	Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
OMIM:614944	Deafness, autosomal recessive 84b
OMIM:614945	autosomal recessive nonsyndromic deafness 18B
OMIM:614946	Combined oxidative phosphorylation defect type 14
OMIM:614947	Combined oxidative phosphorylation defect type 15
OMIM:614954	CHTD3
OMIM:614959	Epileptic Encephalopathy, Early Infantile, 14
OMIM:614961	pontocerebellar hypoplasia type 8
OMIM:614962	Obesity due to congenital leptin deficiency
OMIM:614963	Obesity due to leptin receptor gene deficiency
OMIM:614969	Pontocerebellar hypoplasia, type 7
OMIM:614970	Joubert syndrome 20
OMIM:614972	Cholestasis, Intrahepatic, of Pregnancy 3
OMIM:614973	Focal facial dermal dysplasia type II
OMIM:614976	Carpenter syndrome 2
OMIM:614979	Splenomegaly, Cytopenia, and Vision Loss
OMIM:614980	Congenital heart defects, multiple types, 2
OMIM:614990	USH1K
OMIM:615005	Epilepsy, Nocturnal Frontal Lobe, 5
OMIM:615006	Epileptic Encephalopathy, Early Infantile, 15
OMIM:615007	Basal Ganglia Calcification, Idiopathic, 4
OMIM:615008	Nephrotic syndrome, type 7
OMIM:615009	Schuurs-Hoeijmakers Syndrome
OMIM:615010	Aicardi-Goutieres Syndrome 6
OMIM:615022	autosomal recessive congenital ichthyosis 7
OMIM:615023	autosomal recessive congenital ichthyosis 9
OMIM:615024	Autosomal recessive congenital ichthyosis 10
OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q
OMIM:615026	ariboflavinosis
OMIM:615028	Epidermolysis Bullosa, Nonspecific, Autosomal Recessive
OMIM:615030	Spastic paraplegia 56, autosomal recessive
OMIM:615031	Spastic Paraplegia 49, Autosomal Recessive
OMIM:615032	Autism, Susceptibility To, 18
OMIM:615033	Spastic Paraplegia 54, Autosomal Recessive
OMIM:615034	dystonia 24
OMIM:615035	Spastic Paraplegia 55, Autosomal Recessive
OMIM:615040	Familial episodic pain syndrome 1
OMIM:615041	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
OMIM:615042	Congenital disorder of glycosylation type 1u
OMIM:615043	Spastic paraplegia 43, autosomal recessive
OMIM:615048	Spinal Muscular Atrophy, Jokela Type
OMIM:615058	Night Blindness, Congenital Stationary, Type 1F
OMIM:615059	hypotrichosis 11
OMIM:615065	Arthrogryposis, Distal, Type 5D
OMIM:615066	Osteogenesis imperfecta, type xiv
OMIM:615067	Ciliary Dyskinesia, Primary, 20
OMIM:615071	Alazami Syndrome
OMIM:615072	Brachydactyly, Type A1, C
OMIM:615073	dystonia 25
OMIM:615074	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
OMIM:615075	Severe intellectual disability-progressive spastic diplegia syndrome
OMIM:615081	Spermatogenic Failure 11
OMIM:615083	Colorectal Cancer, Susceptibility To, 12
OMIM:615084	Mitochondrial Dna Depletion Syndrome 11
OMIM:615085	Osteopetrosis, Autosomal Recessive 8
OMIM:615092	Left Ventricular Noncompaction 7
OMIM:615095	Primary autosomal recessive microcephaly 10
OMIM:615102	Tyshchenko Syndrome
OMIM:615106	Cowden Syndrome 3
OMIM:615107	Cowden Syndrome 4
OMIM:615108	Cowden syndrome 5
OMIM:615109	Cowden syndrome 6
OMIM:615112	Urofacial Syndrome 2
OMIM:615113	Microphthalmia, Isolated 8
OMIM:615119	Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2
OMIM:615120	congenital myasthenic syndrome 8
OMIM:615122	lymphoproliferative syndrome 2
OMIM:615127	FAME4
OMIM:615134	Melanoma, Cutaneous Malignant, Susceptibility To, 9
OMIM:615135	Maple syrup urine disease, mild variant
OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature
OMIM:615145	Microphthalmia, isolated, with coloboma 9
OMIM:615147	Progressive retinal dystrophy due to retinol transport defect
OMIM:615155	Steel syndrome
OMIM:615156	Mitochondrial DNA deletion syndrome with progressive myopathy
OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2
OMIM:615158	Mitochondrial complex III deficiency, nuclear type 3
OMIM:615159	mitochondrial complex III deficiency nuclear type 4
OMIM:615160	Mitochondrial Complex 3 Deficiency, Nuclear Type 5
OMIM:615162	MRT35
OMIM:615163	CORD17
OMIM:615170	Wahab Syndrome
OMIM:615179	Albinism, oculocutaneous, type VII
OMIM:615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
OMIM:615182	Combined D-2- and L-2-Hydroxyglutaric Aciduria
OMIM:615184	dilated cardiomyopathy 1II
OMIM:615185	Charcot-Marie-Tooth disease dominant intermediate F
OMIM:615188	Cataract 39, Multiple Types
OMIM:615190	Dyskeratosis congenita, autosomal recessive, 5
OMIM:615191	Lissencephaly 5
OMIM:615193	Platelet-type bleeding disorder 15
OMIM:615198	OSMD
OMIM:615206	Severe combined immunodeficiency due to CARD11 deficiency
OMIM:615207	IL21R immunodeficiency
OMIM:615214	Agammaglobulinemia 7, Autosomal Recessive
OMIM:615217	ataxia with oculomotor apraxia type 3
OMIM:615219	Hydrocephalus, Nonsyndromic, Autosomal Recessive 2
OMIM:615220	Osteogenesis Imperfecta, Type 15
OMIM:615222	Smith-Mccort Dysplasia 2
OMIM:615225	Palmoplantar carcinoma, multiple self-healing
OMIM:615226	Postaxial polydactyly type A6
OMIM:615228	Mitochondrial complex v (atp synthase) deficiency, nuclear type 4
OMIM:615233	Retinitis Pigmentosa 66
OMIM:615234	Anemia, Hypochromic Microcytic, With Iron Overload 2
OMIM:615235	dilated cardiomyopathy 1JJ
OMIM:615236	Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
OMIM:615237	Congenital Short Bowel Syndrome
OMIM:615238	Lipodystrophy, Familial Partial, Type 5
OMIM:615244	Nephrotic syndrome, type 8
OMIM:615248	dilated cardiomyopathy 1KK
OMIM:615249	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
OMIM:615266	Hypogonadotropic Hypogonadism 17 With or Without Anosmia
OMIM:615267	Hypogonadotropic Hypogonadism 18 With or Without Anosmia
OMIM:615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
OMIM:615269	hypogonadotropic hypogonadism 19 with or without anosmia
OMIM:615270	hypogonadotropic hypogonadism 20 with or without anosmia
OMIM:615271	hypogonadotropic hypogonadism 21 with or without anosmia
OMIM:615272	Fanconi Anemia, Complementation Group Q
OMIM:615273	NGLY1-deficiency
OMIM:615274	cataract 15 multiple types
OMIM:615277	cataract 19 multiple types
OMIM:615278	Cardiofaciocutaneous syndrome 2
OMIM:615279	Cardiofaciocutaneous syndrome 3
OMIM:615280	Cardiofaciocutaneous syndrome 4
OMIM:615281	Hypomyelination with brain stem and spinal cord involvement and leg spasticity
OMIM:615282	Cortical dysplasia, complex, with other brain malformations 2
OMIM:615284	Charcot-Marie-Tooth Disease, Type 4B3
OMIM:615285	Severe congenital neutropenia 5, autosomal recessive
OMIM:615286	Mental Retardation, Autosomal Recessive 36
OMIM:615287	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain and Eye Anomalies), Type A, 13
OMIM:615290	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
OMIM:615294	Ciliary Dyskinesia, Primary, 21
OMIM:615297	Adams-Oliver syndrome 4
OMIM:615298	Symphalangism, proximal, 1b
OMIM:615300	Perrault syndrome 4
OMIM:615312	Oculocutaneous albinism type 5
OMIM:615314	Craniosynostosis 3
OMIM:615325	Muscular dystrophy, limb-girdle, type 2r
OMIM:615327	Dowling-Degos disease 2
OMIM:615328	Shaheen Syndrome
OMIM:615330	multiple mitochondrial dysfunctions syndrome 3
OMIM:615338	Epileptic Encephalopathy, Early Infantile, 16
OMIM:615342	Primary pulmonary hypertension 2
OMIM:615343	Primary pulmonary hypertension 3
OMIM:615344	Primary pulmonary hypertension 4
OMIM:615346	Precocious Puberty, Central, 2
OMIM:615348	Nemaline Myopathy 8
OMIM:615349	Ehlers-Danlos Syndrome, Progeroid Type, 2
OMIM:615350	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain and Eye Anomalies), Type A, 14
OMIM:615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14
OMIM:615352	Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
OMIM:615355	Noonan syndrome 8
OMIM:615356	Limb-girdle muscular dystrophy, type 2S
OMIM:615361	Hypocalcemia, Autosomal Dominant 2
OMIM:615362	Ceroid Lipofuscinosis, Neuronal, 13
OMIM:615363	Estrogen resistance
OMIM:615368	Lethal Congenital Contracture Syndrome 5
OMIM:615369	childhood onset epileptic encephalopathy
OMIM:615373	Left Ventricular Noncompaction 8
OMIM:615374	Cone-Rod Dystrophy 18
OMIM:615376	Charcot-Marie-Tooth Disease, Recessive Intermediate C
OMIM:615377	Atrial Fibrillation, Familial, 13
OMIM:615378	Atrial Fibrillation, Familial, 14
OMIM:615381	Mandibular hypoplasia-deafness-progeroid syndrome
OMIM:615382	Nephronophthisis 16
OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14
OMIM:615387	TCR-alpha-beta-positive T-cell deficiency
OMIM:615395	Combined Oxidative Phosphorylation Deficiency 16
OMIM:615396	Left Ventricular Noncompaction 10
OMIM:615397	Meckel syndrome, type 11
OMIM:615398	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
OMIM:615399	Paroxysmal Nocturnal Hemoglobinuria 2
OMIM:615400	Epilepsy, familial adult myoclonic, 5
OMIM:615401	Immunodeficiency 8
OMIM:615411	Cortical Dysplasia, Complex, With Other Brain Malformations 3
OMIM:615412	Cortical Dysplasia, Complex, With Other Brain Malformations 4
OMIM:615413	Spermatogenic Failure 12
OMIM:615414	Microcephaly 11, Primary, Autosomal Recessive
OMIM:615415	Renal-hepatic-pancreatic dysplasia 2
OMIM:615418	mitochondrial DNA depletion syndrome 12
OMIM:615419	Hypotonia, Infantile, With Psychomotor Retardation and Characteristic Facies
OMIM:615420	Myopia 22, autosomal dominant
OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2
OMIM:615424	Inclusion Body Myopathy With Early-Onset Paget Disease With or Without Frontotemporal Dementia 3
OMIM:615425	Epidermolysis bullosa simplex, autosomal recessive 2
OMIM:615426	amyotrophic lateral sclerosis type 20
OMIM:615429	autosomal recessive nonsyndromic deafness 88
OMIM:615431	Myopia 23, autosomal recessive
OMIM:615432	Specific language impairment 5
OMIM:615433	Chromosome 3Q13.31 Deletion Syndrome
OMIM:615434	Retinitis pigmentosa with or without situs inversus
OMIM:615436	Aortic aneurysm, familial thoracic 8
OMIM:615438	Acute infantile liver failure-multisystemic involvement syndrome
OMIM:615439	Macular Degeneration, Age-Related, 13
OMIM:615440	Combined oxidative phosphorylation defect type 17
OMIM:615441	catecholaminergic polymorphic ventricular tachycardia 5
OMIM:615444	Ciliary Dyskinesia, Primary, 22
OMIM:615451	primary ciliary dyskinesia 23
OMIM:615453	Mitochondrial Complex 3 Deficiency, Nuclear Type 6
OMIM:615458	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
OMIM:615465	Hartsfield Syndrome
OMIM:615468	Immunodeficiency 12
OMIM:615471	Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
OMIM:615473	Epileptic Encephalopathy, Early Infantile, 17
OMIM:615474	Primary Aldosteronism, Seizures, and Neurologic Abnormalities
OMIM:615476	Early infantile epileptic encephalopathy 18
OMIM:615481	primary ciliary dyskinesia 24
OMIM:615482	primary ciliary dyskinesia 25
OMIM:615483	Idiopathic basal ganglia calcification 5
OMIM:615485	Bainbridge-Ropers Syndrome
OMIM:615486	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
OMIM:615490	Charcot-Marie-Tooth disease type 2R
OMIM:615491	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
OMIM:615493	Mental Retardation, Autosomal Recessive 37
OMIM:615500	primary ciliary dyskinesia 26
OMIM:615501	Molybdenum Cofactor Deficiency, Complementation Group C
OMIM:615502	Mental retardation, autosomal dominant 21
OMIM:615503	Short-Rib Thoracic Dysplasia 8 With or Without Polydactyly
OMIM:615504	primary ciliary dyskinesia 27
OMIM:615505	primary ciliary dyskinesia 28
OMIM:615506	Telangiectasia, Hereditary Hemorrhagic, Type 5
OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige
OMIM:615510	Alacrima, achalasia, and mental retardation syndrome
OMIM:615511	Myopathy Due to Myoadenylate Deaminase Deficiency
OMIM:615512	Triosephosphate Isomerase Deficiency
OMIM:615513	Immunodeficiency 14
OMIM:615515	Amyotrophic Lateral Sclerosis 19
OMIM:615516	Mental Retardation, Autosomal Recessive 38
OMIM:615517	Hemochromatosis, Type 5
OMIM:615518	Immunodeficiency 13
OMIM:615522	Cole Disease
OMIM:615523	Corneal dystrophy, Fuchs endothelial, 8
OMIM:615524	Microphthalmia, syndromic 12
OMIM:615527	Candidiasis, Familial, 8
OMIM:615528	juvenile onset Parkinson disease 19A
OMIM:615529	Craniosynostosis 5, susceptibility to
OMIM:615530	Parkinson disease 20, early-onset
OMIM:615538	chromosome 22q13 duplication syndrome
OMIM:615539	Ehlers-Danlos Syndrome, Musculocontractural Type, 2
OMIM:615540	autosomal recessive nonsyndromic deafness 76
OMIM:615541	Mental Retardation, Autosomal Recessive 39
OMIM:615542	Testicular anomalies with or without congenital heart disease
OMIM:615544	Periventricular Nodular Heterotopia 6
OMIM:615546	Van Maldergem Syndrome 2
OMIM:615547	Prader-Willi syndrome due to point mutation
OMIM:615548	Hereditary sensory and autonomic neuropathy type 7
OMIM:615550	Diamond-Blackfan anemia 12
OMIM:615552	Episodic Pain Syndrome, Familial, 3
OMIM:615553	Arthrogryposis, mental retardation, and seizures
OMIM:615555	Hyperprolactinemia
OMIM:615558	Hypobetalipoproteinemia, Familial, 1
OMIM:615559	Autoimmune Lymphoproliferative Syndrome, Type 3
OMIM:615560	Otofaciocervical Syndrome 2
OMIM:615561	Complement Factor B Deficiency
OMIM:615565	Retinitis Pigmentosa 67
OMIM:615573	Nephrotic syndrome, type 9
OMIM:615574	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
OMIM:615575	Neuronopathy, Distal Hereditary Motor, Type 2D
OMIM:615577	Immunodeficiency, Common Variable, 10
OMIM:615578	Combined Oxidative Phosphorylation Deficiency 18
OMIM:615582	Loeys-Dietz syndrome 5
OMIM:615583	Verheij Syndrome
OMIM:615589	OTSC10
OMIM:615592	Immunodeficiency 15
OMIM:615593	Immunodeficiency 16
OMIM:615595	Combined oxidative phosphorylation deficiency 19
OMIM:615596	Congenital disorder of glycosylation type 1w
OMIM:615597	Congenital disorder of glycosylation type 1x
OMIM:615598	Palmoplantar keratoderma, nagashima type
OMIM:615599	Microcephaly-thin corpus callosum-intellectual disability syndrome
OMIM:615605	Fanconi Renotubular Syndrome 3
OMIM:615607	Immunodeficiency 17
OMIM:615615	Immunodeficiency 18
OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13
OMIM:615617	Immunodeficiency 19
OMIM:615619	Cholangiocarcinoma, Susceptibility to
OMIM:615625	Spastic Paraplegia 72, Autosomal Recessive
OMIM:615629	Deafness, autosomal dominant 56
OMIM:615630	Short-rib thoracic dysplasia 10 with or without polydactyly
OMIM:615631	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
OMIM:615632	Hereditary sensory neuropathy type IF
OMIM:615633	Short-rib thoracic dysplasia 11 with or without polydactyly
OMIM:615636	Joubert syndrome 21
OMIM:615637	Mental retardation, autosomal recessive 41
OMIM:615643	neurodegeneration with brain iron accumulation 6
OMIM:615649	autosomal dominant nonsyndromic deafness 54
OMIM:615651	Leukoencephalopathy with ataxia
OMIM:615654	DFNA58
OMIM:615656	Chromosome 15Q11.2 Deletion Syndrome
OMIM:615658	Spastic Paraplegia 57, Autosomal Recessive
OMIM:615663	Warburg micro syndrome 4
OMIM:615665	Joubert syndrome 22
OMIM:615668	chromosome 5q12 deletion syndrome
OMIM:615670	Schwannomatosis 2
OMIM:615673	Myopathy with extrapyramidal signs
OMIM:615681	hereditary spastic paraplegia 62
OMIM:615683	Spastic Paraplegia 64, Autosomal Recessive
OMIM:615685	hereditary spastic paraplegia 61
OMIM:615686	Spastic paraplegia 63, autosomal recessive
OMIM:615688	Polyarteritis nodosa
OMIM:615703	Morbid Obesity and Spermatogenic Failure
OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
OMIM:615705	Spinocerebellar Ataxia, Autosomal Recessive 15
OMIM:615706	Auriculocondylar Syndrome 3
OMIM:615707	Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
OMIM:615709	Sacral Agenesis With Vertebral Anomalies
OMIM:615710	Mitchell-Riley Syndrome
OMIM:615715	Bone Marrow Failure Syndrome 2
OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4
OMIM:615721	Renal Hypodysplasia/Aplasia 2
OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome
OMIM:615723	Premature Ovarian Failure 8
OMIM:615724	Premature Ovarian Failure 9
OMIM:615725	Retinitis Pigmentosa 68
OMIM:615726	PC-K6a
OMIM:615728	Pachyonychia Congenita 4
OMIM:615731	Nemaline Myopathy 9
OMIM:615735	Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse
OMIM:615744	Epileptic Encephalopathy, Early Infantile, 19
OMIM:615745	Atrial Standstill 2
OMIM:615750	Moyamoya disease 6 with achalasia
OMIM:615751	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
OMIM:615752	Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
OMIM:615758	Immunodeficiency 22
OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
OMIM:615761	Mental retardation, autosomal dominant 23
OMIM:615763	Cortical dysplasia, complex, with other brain malformations 5
OMIM:615767	Immunodeficiency, Common Variable, 11
OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16
OMIM:615770	Atrial Fibrillation, Familial, 15
OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6
OMIM:615774	Oocyte Maturation Defect 1
OMIM:615777	Desbuquois dysplasia 2
OMIM:615779	Congenital heart defects, multiple types, 4
OMIM:615780	Retinitis Pigmentosa 69
OMIM:615785	White Sponge Nevus 2
OMIM:615789	Short Stature With Microcephaly and Distinctive Facies
OMIM:615802	Mental retardation, autosomal recessive 42
OMIM:615803	pontocerebellar hypoplasia type 10
OMIM:615807	Seckel syndrome 8
OMIM:615809	Pontocerebellar hypoplasia, type 9
OMIM:615812	Abdominal Obesity-Metabolic Syndrome 3
OMIM:615816	Immunodeficiency 23
OMIM:615817	Mental retardation, autosomal recessive 43
OMIM:615821	Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, and Tooth Agenesis
OMIM:615824	Mitochondrial Complex 3 Deficiency, Nuclear Type 7
OMIM:615828	Mental retardation, autosomal dominant 24
OMIM:615829	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
OMIM:615830	Pigmented Nodular Adrenocortical Disease, Primary, 4
OMIM:615833	Epileptic Encephalopathy, Early Infantile, 21
OMIM:615834	Mental Retardation, Autosomal Dominant 26
OMIM:615837	Deafness, Autosomal Recessive 101
OMIM:615838	Mitochondrial Complex 3 Deficiency, Nuclear Type 8
OMIM:615841	Spermatogenic Failure 13
OMIM:615842	Spermatogenic failure 14
OMIM:615846	Aicardi-Goutieres Syndrome 7
OMIM:615849	Culler-Jones Syndrome
OMIM:615851	Pontocerebellar hypoplasia, type 2e
OMIM:615859	Epileptic Encephalopathy, Early Infantile, 23
OMIM:615860	Cone-Rod Dystrophy 19
OMIM:615861	Nephrotic Syndrome, Type 10
OMIM:615862	Nephronophthisis 18
OMIM:615863	Diarrhea 7
OMIM:615866	Mental Retardation, Autosomal Dominant 27
OMIM:615871	Epileptic Encephalopathy, Early Infantile, 24
OMIM:615872	primary ciliary dyskinesia 29
OMIM:615873	ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
OMIM:615877	Microphthalmia/Coloboma and Skeletal Dysplasia Syndrome
OMIM:615878	Cholestasis, Progressive Familial Intrahepatic, 4
OMIM:615879	Tall stature-intellectual disability-facial dysmorphism syndrome
OMIM:615883	Myopathy, Tubular Aggregate, 2
OMIM:615885	hypotrichosis 12
OMIM:615887	Amelogenesis imperfecta, hypomaturation type IIA5
OMIM:615888	Bleeding Disorder, Platelet-Type, 18
OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure
OMIM:615892	Familial median cleft of the upper and lower lips
OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency
OMIM:615896	hypotrichosis 13
OMIM:615897	Immunodeficiency 24
OMIM:615905	Epileptic encephalopathy, early infantile, 25
OMIM:615907	Lymphedema, hereditary, ID
OMIM:615909	Diamond-Blackfan Anemia 13
OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
OMIM:615916	dilated cardiomyopathy 1NN
OMIM:615917	Combined oxidative phosphorylation deficiency 20
OMIM:615918	Combined oxidative phosphorylation deficiency 21
OMIM:615919	PCNA-related progressive neurodegenerative photosensitivy syndrome
OMIM:615922	retinitis pigmentosa 70
OMIM:615923	Epiphyseal chondrodysplasia, miura type
OMIM:615924	Severe neurodegenerative syndrome with lipodystrophy
OMIM:615925	Growth Hormone Deficiency, Isolated Partial
OMIM:615926	Webb-Dattani Syndrome
OMIM:615934	Sting-Associated Vasculopathy, Infantile-Onset
OMIM:615935	Pancreatic Agenesis 2
OMIM:615937	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
OMIM:615938	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
OMIM:615942	Mental Retardation, Autosomal Recessive 44
OMIM:615945	spinocerebellar ataxia type 37
OMIM:615946	Myopia 24, autosomal dominant
OMIM:615947	Hyperlipoproteinemia, type ID
OMIM:615948	Orofaciodigital syndrome xiv
OMIM:615952	Autoimmune disease, multisystem, infantile-onset, 1
OMIM:615954	Acth-independent macronodular adrenal hyperplasia 2
OMIM:615957	spinocerebellar ataxia type 38
OMIM:615959	Myopathy, Centronuclear, 5
OMIM:615960	Poretti-Boltshauser Syndrome
OMIM:615961	Acid-Labile Subunit Deficiency
OMIM:615962	Glucocorticoid resistance
OMIM:615963	Vesicoureteral Reflux 8
OMIM:615966	Immunodeficiency 26 With or Without Neurologic Abnormalities
OMIM:615969	Congenital deficiency in alpha-fetoprotein
OMIM:615970	Hereditary persistence of alpha-fetoprotein
OMIM:615972	Nanophthalmos 4
OMIM:615973	Cone-Rod Dystrophy 20
OMIM:615974	Deafness, Autosomal Recessive 102
OMIM:615978	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
OMIM:615979	Mental Retardation, Autosomal Recessive 45
OMIM:615980	Familial partial lipodystrophy 6
OMIM:615981	Bardet-Biedl Syndrome 2
OMIM:615982	Bardet-Biedl syndrome 4
OMIM:615983	Bardet-Biedl syndrome 5
OMIM:615984	Bardet-Biedl Syndrome 7
OMIM:615985	Bardet-Biedl syndrome 8
OMIM:615986	Bardet-Biedl syndrome 9
OMIM:615987	Bardet-Biedl syndrome 10
OMIM:615988	Bardet-Biedl Syndrome 11
OMIM:615989	Bardet-Biedl Syndrome 12
OMIM:615990	Bardet-Biedl Syndrome 13
OMIM:615991	Bardet-Biedl Syndrome 14
OMIM:615993	Bardet-Biedl syndrome 16
OMIM:615994	Bardet-Biedl syndrome 17
OMIM:615995	Bardet-Biedl syndrome 18
OMIM:615996	Bardet-Biedl Syndrome 19
OMIM:615999	Hyperthyroxinemia, Familial Dysalbuminemic
OMIM:616000	Congenital analbuminemia
OMIM:616001	Breasts And/Or Nipples, Aplasia or Hypoplasia Of, 2
OMIM:616002	Focal Segmental Glomerulosclerosis 7
OMIM:616004	Familial dysfibrinogenemia
OMIM:616005	Immunodeficiency 36
OMIM:616007	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia
OMIM:616022	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
OMIM:616025	Hyperphosphatasia with mental retardation syndrome 5
OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
OMIM:616028	Adams-Oliver Syndrome 5
OMIM:616029	Ectodermal Dysplasia/Short Stature Syndrome
OMIM:616030	Hypogonadotropic Hypogonadism 22 With or Without Anosmia
OMIM:616032	Focal Segmental Glomerulosclerosis 8
OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1
OMIM:616034	2,4-Dienoyl-CoA reductase deficiency
OMIM:616037	Ciliary Dyskinesia, Primary, 30
OMIM:616038	Neu-Laxova syndrome 2
OMIM:616039	Charcot-Marie-Tooth Disease, Recessive Intermediate D
OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic
OMIM:616042	Deafness, Autosomal Recessive 103
OMIM:616044	Deafness, Autosomal Dominant 65
OMIM:616045	Combined Oxidative Phosphorylation Deficiency 22
OMIM:616050	Autoinflammation With Infantile Enterocolitis
OMIM:616051	Primary autosomal recessive microcephaly 13
OMIM:616052	Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
OMIM:616053	spinocerebellar ataxia type 40
OMIM:616055	episodic ataxia type 8
OMIM:616056	Epileptic encephalopathy, early infantile, 26
OMIM:616059	Mirror movements 3
OMIM:616063	Porokeratosis 8, Disseminated Superficial Actinic Type
OMIM:616067	46,Xy Sex Reversal 9
OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2
OMIM:616078	Mental Retardation, Autosomal Dominant 29
OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
OMIM:616080	Primary autosomal recessive microcephaly 12
OMIM:616081	Pontocerebellar Hypoplasia, Type 1C
OMIM:616083	Mental retardation, autosomal dominant 30
OMIM:616084	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12
OMIM:616095	Monocarboxylate Transporter 1 Deficiency
OMIM:616098	Immunodeficiency 37
OMIM:616099	Palmoplantar keratoderma and woolly hair
OMIM:616100	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
OMIM:616106	Psoriasis 15, Pustular, Susceptibility to
OMIM:616108	Retinal dystrophy, juvenile cataracts, and short stature syndrome
OMIM:616111	mitochondrial complex III deficiency nuclear type 9
OMIM:616113	Polyendocrine-polyneuropathy syndrome
OMIM:616115	Familial Cold Autoinflammatory Syndrome 4
OMIM:616116	Mental Retardation, Autosomal Recessive 46
OMIM:616117	Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
OMIM:616118	Macular Degeneration, Early-Onset
OMIM:616126	Immunodeficiency 38 With Basal Ganglia Calcification
OMIM:616127	Spinocerebellar Ataxia, Autosomal Recessive 17
OMIM:616138	Perrault syndrome 5
OMIM:616139	Epileptic encephalopathy, early infantile, 27
OMIM:616140	Leukodystrophy, Hypomyelinating, 9
OMIM:616145	Catel-Manzke Syndrome
OMIM:616151	Macular Dystrophy, Vitelliform, 4
OMIM:616152	Macular Dystrophy, Vitelliform, 5
OMIM:616154	Severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency
OMIM:616155	Charcot-Marie-Tooth Disease, Axonal, Type 2S
OMIM:616158	Mental retardation, autosomal dominant 31
OMIM:616165	Nemaline Myopathy 10
OMIM:616166	Aortic aneurysm, familial thoracic 9
OMIM:616170	Macular Dystrophy With Central Cone Involvement
OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2
OMIM:616172	Generalized epilepsy with febrile seizures plus, type 9
OMIM:616176	Bleeding Disorder, Platelet-Type, 19
OMIM:616185	Ovarian dysgenesis 4
OMIM:616187	Progressive myoclonic epilepsy type 7
OMIM:616188	Retinal Dystrophy and Obesity
OMIM:616192	Ataxia, Combined Cerebellar and Peripheral, With Hearing Loss and Diabetes Mellitus
OMIM:616193	Mental Retardation, Autosomal Recessive 47
OMIM:616198	Combined Oxidative Phosphorylation Deficiency 23
OMIM:616199	Polyglucosan Body Myopathy 2
OMIM:616200	Progeroid features-hepatocellular carcinoma predisposition syndrome
OMIM:616201	chronic atrial and intestinal dysrhythmia
OMIM:616202	Cerebellar-facial-dental syndrome
OMIM:616204	Spinocerebellar ataxia, autosomal recessive 18
OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
OMIM:616209	Myopathy, Isolated Mitochondrial, Autosomal Dominant
OMIM:616211	Epileptic encephalopathy, early infantile, 28
OMIM:616212	Lissencephaly 6, with microcephaly
OMIM:616214	Hyperproinsulinemia
OMIM:616216	Thrombocytopenia 5
OMIM:616217	Nephronophthisis 19
OMIM:616219	Fibrosis of Extraocular Muscles, Congenital, 5
OMIM:616220	Focal Segmental Glomerulosclerosis 9
OMIM:616221	amelogenesis imperfecta type 1H
OMIM:616222	Motor developmental delay due to 14q32.2 paternally expressed gene defect
OMIM:616227	Myasthenic Syndrome, Congenital, 15
OMIM:616228	congenital myasthenic syndrome 14
OMIM:616229	Osteogenesis Imperfecta, Type 16
OMIM:616230	Epilepsy, Progressive Myoclonic, 8
OMIM:616231	Myopathy due to calsequestrin and SERCA1 protein overload
OMIM:616233	Moved to 614881
OMIM:616239	Combined Oxidative Phosphorylation Deficiency 24
OMIM:616247	Long Qt Syndrome 14
OMIM:616248	Lethal Congenital Contracture Syndrome 6
OMIM:616249	long QT syndrome 15
OMIM:616255	Short Stature With Nonspecific Skeletal Abnormalities
OMIM:616258	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
OMIM:616260	Tenorio Syndrome
OMIM:616263	Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset
OMIM:616265	Peeling Skin Syndrome 3
OMIM:616266	Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
OMIM:616267	Ataxia-Oculomotor Apraxia 4
OMIM:616268	Mental retardation, autosomal dominant 32
OMIM:616269	Mental Retardation, Autosomal Recessive 48
OMIM:616270	Amelogenesis imperfecta, type IF
OMIM:616271	3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement, and Neutropenia
OMIM:616276	Coenzyme Q10 deficiency, primary, 7
OMIM:616277	Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
OMIM:616278	Bile Acid Synthesis Defect, Congenital, 5
OMIM:616279	Cataract 43
OMIM:616280	Charcot-Marie-Tooth Disease, Axonal, Type 2U
OMIM:616281	Mental Retardation, Autosomal Recessive 49
OMIM:616282	hereditary spastic paraplegia 73
OMIM:616286	Lethal Congenital Contracture Syndrome 7
OMIM:616287	Lethal Congenital Contracture Syndrome 8
OMIM:616289	Optic Atrophy 9
OMIM:616291	Lichtenstein-Knorr Syndrome
OMIM:616294	Cole-Carpenter Syndrome 2
OMIM:616295	Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads
OMIM:616298	Singleton-Merten Syndrome 2
OMIM:616299	Lipoyltransferase 1 deficiency
OMIM:616300	Short-Rib Thoracic Dysplasia 13 With or Without Polydactyly
OMIM:616304	Myasthenic Syndrome, Congenital, 17
OMIM:616307	Senior-Loken syndrome 8
OMIM:616311	Mental retardation, autosomal dominant 33
OMIM:616313	Myasthenic syndrome, congenital, 2a, slow-channel
OMIM:616314	congenital myasthenic syndrome 2C
OMIM:616321	Myasthenic syndrome, congenital, 3a, slow-channel
OMIM:616322	Myasthenic syndrome, congenital, 3b, fast-channel
OMIM:616323	congenital myasthenic syndrome 3C
OMIM:616324	Myasthenic syndrome, congenital, 4b, fast-channel
OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
OMIM:616326	congenital myasthenic syndrome 11
OMIM:616329	Maturity-onset diabetes of the young, type 13
OMIM:616330	congenital myasthenic syndrome 18
OMIM:616331	autosomal dominant Robinow syndrome 2
OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3
OMIM:616339	Epileptic Encephalopathy, Early Infantile, 29
OMIM:616340	Deafness, autosomal dominant 67
OMIM:616341	Epileptic encephalopathy, early infantile, 30
OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia
OMIM:616345	Immunodeficiency 39
OMIM:616346	Epileptic encephalopathy, early infantile, 31
OMIM:616351	Mental retardation, autosomal dominant 34
OMIM:616353	Dyskeratosis Congenita, Autosomal Recessive 6
OMIM:616354	autosomal recessive spinocerebellar ataxia 20
OMIM:616355	Mental retardation, autosomal dominant 35
OMIM:616357	Deafness, Autosomal Dominant 40
OMIM:616361	PARK21
OMIM:616362	Mental Retardation, Autosomal Dominant 36
OMIM:616364	Mental Retardation, Autosomal Dominant 37
OMIM:616366	Epileptic Encephalopathy, Early Infantile, 32
OMIM:616367	Mandibulofacial dysostosis with alopecia
OMIM:616368	Chops Syndrome
OMIM:616370	multiple mitochondrial dysfunctions syndrome 4
OMIM:616371	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4
OMIM:616373	Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3
OMIM:616389	congenital stationary night blindness 1G
OMIM:616390	Trichothiodystrophy 2, Photosensitive
OMIM:616393	Mental Retardation, Autosomal Dominant 38
OMIM:616394	retinitis pigmentosa 71
OMIM:616395	Trichothiodystrophy 3, photosensitive
OMIM:616398	Dystonia 26, Myoclonic
OMIM:616399	Brugada syndrome 9
OMIM:616400	Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
OMIM:616402	Primary autosomal recessive microcephaly 14
OMIM:616409	Epileptic Encephalopathy, Early Infantile, 33
OMIM:616410	Spinocerebellar ataxia 41
OMIM:616411	Dystonia 27
OMIM:616413	Basal Ganglia Calcification, Idiopathic, 6
OMIM:616414	Autoimmune interstitial lung, joint, and kidney disease
OMIM:616415	Familial adenomatous polyposis 3
OMIM:616418	Hypomagnesemia, Seizures, and Mental Retardation
OMIM:616420	Leukodystrophy, hypomyelinating, 10
OMIM:616421	Myoclonic-atonic epilepsy
OMIM:616425	46,Xy Sex Reversal 10
OMIM:616428	Microphthalmia, Isolated, With Coloboma 10
OMIM:616430	Combined Oxidative Phosphorylation Deficiency 25
OMIM:616433	DOCK2 deficiency
OMIM:616435	Fanconi anemia, complementation group T
OMIM:616436	familial temporal lobe epilepsy 7
OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
OMIM:616445	Candidiasis, Familial, 9
OMIM:616449	Basel-Vanagaite-Smirin-Yosef Syndrome
OMIM:616451	Spastic Paraplegia 74, Autosomal Recessive
OMIM:616452	B-cell expansion with NFKB and T-cell anergy
OMIM:616455	Zimmermann-Laband syndrome 2
OMIM:616457	Epileptic encephalopathy, early infantile, 50
OMIM:616459	Al-Raqad Syndrome
OMIM:616460	Mental retardation, autosomal recessive 50
OMIM:616461	familial temporal lobe epilepsy 8
OMIM:616462	Acrofacial Dysostosis, Cincinnati Type
OMIM:616468	Exudative vitreoretinopathy 6
OMIM:616469	retinitis pigmentosa 72
OMIM:616470	Ullrich Congenital Muscular Dystrophy 2
OMIM:616471	Bethlem Myopathy 2
OMIM:616479	Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
OMIM:616481	Ciliary Dyskinesia, Primary, 32
OMIM:616482	Achondroplasia, Severe, With Developmental Delay and Acanthosis Nigricans
OMIM:616486	Primary autosomal recessive microcephaly 15
OMIM:616487	Epidermolysis bullosa simplex with nail dystrophy
OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII
OMIM:616489	Growth restriction, severe, with distinctive facies
OMIM:616490	Joubert syndrome 23
OMIM:616491	Charcot-Marie-Tooth Disease, Axonal, Type 2V
OMIM:616494	Leukodystrophy, hypomyelinating, 11
OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
OMIM:616501	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
OMIM:616502	Cone-Rod Dystrophy 21
OMIM:616503	Lethal congenital contracture syndrome 9
OMIM:616505	Neuropathy, Hereditary Motor and Sensory, Type 6B
OMIM:616507	Osteogenesis Imperfecta, Type 17
OMIM:616509	Cataract 44
OMIM:616511	Maturity-onset diabetes of the young, type 14
OMIM:616515	Deafness, autosomal recessive 104
OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive
OMIM:616517	Achromatopsia 7
OMIM:616521	Mental Retardation, Autosomal Dominant 39
OMIM:616531	Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia and Arthrogryposis
OMIM:616532	Herpes simplex encephalitis, susceptibility to, 7
OMIM:616535	Thyroid Cancer, Nonmedullary, 5
OMIM:616538	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain and Eye Anomalies), Type A, 9
OMIM:616539	Combined Oxidative Phosphorylation Deficiency 26
OMIM:616540	Epilepsy, progressive myoclonic, 9
OMIM:616541	Short Stature, Microcephaly, and Endocrine Dysfunction
OMIM:616544	retinitis pigmentosa 73
OMIM:616546	Short-Rib Thoracic Dysplasia 14 With Polydactyly
OMIM:616549	Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy and Facial Dysmorphism
OMIM:616553	Dyskeratosis Congenita, Autosomal Dominant 6
OMIM:616559	Noonan syndrome 9
OMIM:616562	retinitis pigmentosa 74
OMIM:616564	Noonan syndrome 10
OMIM:616566	Spondylocostal dysostosis 6, autosomal recessive
OMIM:616570	Cerebrooculofacioskeletal Syndrome 3
OMIM:616576	Immunodeficiency, Common Variable, 12
OMIM:616577	Epilepsy, Hearing Loss, and Mental Retardation Syndrome
OMIM:616579	Mental retardation, autosomal dominant 40
OMIM:616580	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
OMIM:616583	Spondyloepiphyseal Dysplasia, Stanescu Type
OMIM:616586	Spastic Paraplegia 9B, Autosomal Recessive
OMIM:616589	Adams-Oliver Syndrome 6
OMIM:616592	Kosaki Overgrowth Syndrome
OMIM:616602	Craniosynostosis 6
OMIM:616603	Cutis Laxa, Autosomal Dominant 3
OMIM:616604	Chromosome 14Q32 Duplication Syndrome, 700-Kb
OMIM:616606	Ring Chromosome 14 Syndrome
OMIM:616617	Heimler syndrome 2
OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2w
OMIM:616629	Senior-Loken Syndrome 9
OMIM:616632	Seizures, Cortical Blindness, and Microcephaly Syndrome
OMIM:616636	Immunodeficiency 44
OMIM:616640	Epilepsy, progressive myoclonic, 10
OMIM:616645	Epileptic Encephalopathy, Early Infantile, 34; EIEE34
OMIM:616647	Epileptic Encephalopathy, Early Infantile, 35
OMIM:616648	Optic Atrophy 8; OPA8
OMIM:616649	Spherocytosis, Type 2; SPH2
OMIM:616651	Roifman syndrome
OMIM:616652	Yuan-Harel-Lupski Syndrome
OMIM:616654	Joubert syndrome 24
OMIM:616657	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
OMIM:616668	Charcot-Marie-Tooth Disease, Axonal, Type 2X
OMIM:616672	Combined Oxidative Phosphorylation Deficiency 27
OMIM:616680	Spastic paraplegia 75, autosomal recessive
OMIM:616681	Microcephaly 16, primary, autosomal recessive
OMIM:616682	Seizures, Scoliosis, and Macrocephaly Syndrome; SSMS
OMIM:616683	hypomyelinating leukodystrophy 12
OMIM:616684	Charcot-Marie-Tooth disease type 4K
OMIM:616685	Epilepsy, Idiopathic Generalized, Susceptibility To, 14
OMIM:616687	Charcot-Marie-Tooth disease, axonal, type 2y
OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2z
OMIM:616689	Dehydrated hereditary stomatocytosis 2
OMIM:616697	Deafness, autosomal dominant 69
OMIM:616708	Desanto-Shinawi Syndrome; DESSH
OMIM:616716	Rhizomelic Chondrodysplasia Punctata, Type 5
OMIM:616719	Spinocerebellar Ataxia, Autosomal Recessive 21; SCAR21
OMIM:616720	Myasthenic syndrome, congenital, 19
OMIM:616721	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
OMIM:616722	Retinal Dystrophy and Iris Coloboma with or without Congenital Cataract;
OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
OMIM:616724	Tooth agenesis, selective, 7
OMIM:616726	Ciliary Dyskinesia, Primary, 33
OMIM:616728	Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features;
OMIM:616730	Nephrotic Syndrome, Type 11; NPHS11
OMIM:616732	Optic atrophy 10 with or without ataxia, mental retardation, and seizures
OMIM:616733	Coenzyme Q10 Deficiency, Primary, 8; COQ10D8
OMIM:616734	Skin Creases, Congenital Symmetric Circumferential, 2; CSCSC2
OMIM:616736	Tremor, hereditary essential, 5
OMIM:616737	Takenouchi-Kosaki Syndrome; TKS
OMIM:616738	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
OMIM:616739	Mental retardation, autosomal recessive 51
OMIM:616740	Immunodeficiency 46
OMIM:616744	Autoinflammatory syndrome, familial, Behcet-like
OMIM:616749	Heterotaxy, Visceral, 7, Autosomal; HTX7
OMIM:616756	Spastic Paraplegia and Psychomotor Retardation With or Without Seizures
OMIM:616760	Woolly Hair, Autosomal Recessive 3; ARWH3
OMIM:616763	Leukodystrophy and Acquired Microcephaly With or Without Dystonia
OMIM:616777	Seckel syndrome 9
OMIM:616780	Oocyte Maturation Defect; OOMD
OMIM:616781	Joubert syndrome 25
OMIM:616784	Joubert Syndrome 26
OMIM:616788	Orofacial Cleft 15
OMIM:616789	Cardiac anomalies-developmental delay-facial dysmorphism syndrome
OMIM:616794	Combined Oxidative Phosphorylation Deficiency 28; COXPD28
OMIM:616795	Spinocerebellar ataxia 42
OMIM:616801	Hypotonia, Infantile, With Psychomotor Retardation and Characteristic Facies 2
OMIM:616803	Lamb-Shaffer Syndrome
OMIM:616806	Wilms tumor 6
OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6
OMIM:616811	Combined Oxidative Phosphorylation Deficiency 29
OMIM:616812	autosomal recessive limb-girdle muscular dystrophy type 2X
OMIM:616816	Hypotonia, infantile, with psychomotor retardation
OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2
OMIM:616818	Iga Nephropathy, Susceptibility To, 3
OMIM:616819	Corpus Callosum, Agenesis Of, With Facial Anomalies and Cerebellar Ataxia
OMIM:616827	Muscular Dystrophy, Limb-Girdle, Type 2W
OMIM:616828	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo
OMIM:616829	Congenital Disorder of Glycosylation, Type Iip
OMIM:616831	Luscan-Lumish Syndrome; LLS
OMIM:616833	Paget disease of bone 6
OMIM:616834	Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis
OMIM:616835	Meier-Gorlin Syndrome 6
OMIM:616839	Exercise Intolerance, Riboflavin-Responsive; RREI
OMIM:616840	autosomal recessive early-onset Parksinson disease 23
OMIM:616843	Lymphedema, Hereditary, 3
OMIM:616849	Brachydactyly, Type A1, D
OMIM:616851	Cataract 45
OMIM:616852	Myopathy, scapulohumeroperoneal
OMIM:616854	Even-Plus Syndrome
OMIM:616858	Cowden Syndrome 7
OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia
OMIM:616860	Adult-onset autosomal recessive sideroblastic anemia
OMIM:616863	Chromosome 16p13.2 Deletion Syndrome
OMIM:616866	Spinal Muscular Atrophy With Congenital Bone Fractures 1
OMIM:616867	Spinal Muscular Atrophy with Congenital Bone Fractures 2; SMABF2
OMIM:616868	congenital secretory sodium diarrhea 8
OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to
OMIM:616873	Immunodeficiency, Common Variable, 13
OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation
OMIM:616878	Metabolic Encephalomyopathic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration
OMIM:616887	Mental retardation, autosomal recessive 52
OMIM:616892	Nephrotic Syndrome, Type 12
OMIM:616893	Nephrotic Syndrome, Type 13
OMIM:616896	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
OMIM:616897	Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type;
OMIM:616898	15q14 microdeletion syndrome
OMIM:616900	Hypotonia, Infantile, With Psychomotor Retardation and Characteristic Facies 3
OMIM:616902	Chromosome 11p13 Deletion Syndrome, Distal
OMIM:616907	Spastic paraplegia 76, autosomal recessive
OMIM:616910	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
OMIM:616911	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
OMIM:616914	Progeroid and marfanoid aspect-lipodystrophy syndrome
OMIM:616917	Mental Retardation, Autosomal Recessive 53; MRT53
OMIM:616920	Heart and Brain Malformation Syndrome
OMIM:616921	Dyskinesia, Limb and Orofacial, Infantile-Onset
OMIM:616922	Striatal Degeneration, Autosomal Dominant 2; ADSD2
OMIM:616924	Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
OMIM:616937	Thrombocytopenia 6; THC6
OMIM:616938	Coffin-Siris syndrome 5
OMIM:616939	Chorea, Childhood-Onset, with Psychomotor Retardation; COCPMR
OMIM:616941	Agammaglobulinemia 8, Autosomal Dominant; AGM8
OMIM:616943	Trichothiodystrophy 6, Nonphotosensitive; TTD6
OMIM:616944	Mental Retardation, Autosomal Dominant 41; MRD41
OMIM:616946	Premature Ovarian Failure 11
OMIM:616947	Premature Ovarian Failure 12
OMIM:616948	Spinocerebellar Ataxia, Autosomal Recessive 22
OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23
OMIM:616950	Spermatogenic failure 15
OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis
OMIM:616963	Hypercalcemia, Infantile, 2; HCINF2
OMIM:616968	autosomal dominant nonsyndromic deafness 70
OMIM:616969	Deafness, autosomal dominant 66
OMIM:617213	Sedoheptulokinase Deficiency
OMIM:617268	Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language; NDHSAL
OMIM:617270	Mental Retardation, Autosomal Recessive 58; MRT58
OMIM:617315	Anterior Segment Dysgenesis 6
OMIM:617319	Anterior Segment Dysgenesis 8; ASGD8
OMIM:617320	Ichthyosis, congenital, autosomal recessive 12
OMIM:617321	Yao Syndrome
Orphanet:100006	ABeta amyloidosis, Dutch type
Orphanet:100024	Mu Heavy Chain Disease
Orphanet:100025	Alpha Heavy Chain Disease
Orphanet:100070	Progressive non-fluent aphasia
Orphanet:100073	Neurogenic thoracic outlet syndrome
Orphanet:100084	Middle ear endocrine tumor
Orphanet:1006	Alopecia antibody deficiency
Orphanet:100976	Bathing suit ichthyosis
Orphanet:101041	Familial hypofibrinogenemia
Orphanet:1034	Amniotic bands
Orphanet:1037	Arthrogryposis multiplex congenita
Orphanet:1040	Metaphyseal anadysplasia
Orphanet:104010	Intestinal polyposis syndrome
Orphanet:1041	Hydrops fetalis
Orphanet:1053	Vein of Galen aneurysm
Orphanet:1054	Aneurysm of sinus of Valsalva
Orphanet:1067	Aniridia-ptosis-intellectual disability-familial obesity syndrome
Orphanet:1068	Aniridia-intellectual disability syndrome
Orphanet:1074	Ankyloblepharon filiforme-imperforate anus syndrome
Orphanet:1088	Short stature-heart defect-craniofacial anomalies syndrome
Orphanet:109007	Arthrogryposis syndrome
Orphanet:11	Pentasomy X
Orphanet:1132	Aortic arch defects
Orphanet:1135	Arrhinia-choanal atresia-microphthalmia syndrome
Orphanet:1146	Digitotalar dysmorphism
Orphanet:1149	Arthrogryposis-like syndrome
Orphanet:1183	Opsoclonus-myoclonus syndrome
Orphanet:1184	Ataxia-photosensitivity-short stature syndrome
Orphanet:1215	Autosomal dominant optic atrophy plus syndrome
Orphanet:1236	Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
Orphanet:1256	Blepharophimosis-radioulnar synostosis syndrome
Orphanet:1258	Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome
Orphanet:1266	Dermato-cardio-skeletal syndrome, Borrone type
Orphanet:1277	Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
Orphanet:1309	Medullary sponge kidney
Orphanet:1314	Symmetrical thalamic calcifications
Orphanet:1325	Camptodactyly-taurinuria syndrome
Orphanet:1329	Complete atrioventricular canal
Orphanet:1345	Cardiomyopathy-cataract-hip spine disease syndrome
Orphanet:1349	Maternally-inherited cardiomyopathy and hearing loss
Orphanet:1350	Heart-hand syndrome type 2
Orphanet:137599	Stromal keratitis
Orphanet:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Orphanet:1377	Cataract-microcornea syndrome
Orphanet:137867	Madras motor neuron disease
Orphanet:137871	Laminopathy type Decaudain-Vigouroux
Orphanet:1381	Cataract-intellectual disability-anal atresia-urinary defects syndrome
Orphanet:1390	Night blindness-skeletal anomalies-dysmorphism syndrome
Orphanet:139402	Drug rash with eosinophilia and systemic symptoms
Orphanet:139414	Congenital panfollicular nevus
Orphanet:139426	Perioral myoclonia with absences
Orphanet:139444	Leukoencephalopathy with bilateral anterior temporal lobe cysts
Orphanet:139474	17q11.2 microduplication syndrome
Orphanet:1406	Charlie M syndrome
Orphanet:140933	Linear atrophoderma of Moulin
Orphanet:141096	Supernumerary nostril
Orphanet:142	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma
Orphanet:1420	Lethal chondrodysplasia, Moerman type
Orphanet:1423	Lethal recessive chondrodysplasia
Orphanet:1433	Choroidal atrophy-alopecia syndrome
Orphanet:1434	Choroideremia-hypopituitarism syndrome
Orphanet:1437	Ring chromosome 1
Orphanet:1438	Ring chromosome 10
Orphanet:1439	Ring chromosome 12
Orphanet:1447	Ring chromosome 4
Orphanet:1448	Ring chromosome 6
Orphanet:1450	Chromosome 8-derived supernumerary ring /marker
Orphanet:1455	Autosomal dominant coarctation of aorta
Orphanet:1461	Criss-cross heart
Orphanet:1492	Corpus callosum agenesis-double urinary collecting system syndrome
Orphanet:1495	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
Orphanet:1506	Thin ribs-tubular bones-dysmorphism syndrome
Orphanet:1514	Craniodigital syndrome-intellectual disability syndrome
Orphanet:1525	Cranio-osteoarthropathy
Orphanet:1527	Craniosynostosis, Philadelphia type
Orphanet:1530	Craniosynostosis-cataract syndrome
Orphanet:1535	Craniosynostosis-dysmorphism-brachydactyly syndrome
Orphanet:154	Familial isolated dilated cardiomyopathy
Orphanet:1548	Cryptorchidism-arachnodactyly-intellectual disability syndrome
Orphanet:156152	Anti-neutrophil cytoplasmic antibody-associated vasculitis
Orphanet:156156	Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
Orphanet:1570	Symbrachydactyly of hands and feet
Orphanet:157791	Epithelioid Hemangioendothelioma
Orphanet:157835	Paroxysmal hemicrania
Orphanet:157843	Trigeminal autonomic cephalalgia
Orphanet:157991	Generalized eruptive histiocytosis
Orphanet:157997	Benign cephalic histiocytosis
Orphanet:158003	Xanthoma disseminatum
Orphanet:158008	Papular xanthoma
Orphanet:158011	Necrobiotic xanthogranuloma
Orphanet:158014	RosaC/-Dorfman disease
Orphanet:158022	Progressive nodular histiocytosis
Orphanet:158061	Macrophage activation syndrome
Orphanet:1581	Non-distal monosomy 10q
Orphanet:158673	Acral dystrophic epidermolysis bullosa
Orphanet:158676	Dystrophic epidermolysis bullosa, nails only
Orphanet:1597	Distal monosomy 17q
Orphanet:160	Castleman disease
Orphanet:160148	Cap polyposis
Orphanet:1617	2q24 microdeletion syndrome
Orphanet:163596	Hb Bart's hydrops fetalis
Orphanet:1636	Distal monosomy 7q36
Orphanet:163693	2p21 microdeletion syndrome
Orphanet:163703	Febrile infection-related epilepsy syndrome
Orphanet:163892	Limbic encephalitis
Orphanet:163934	Atopic keratoconjunctivitis
Orphanet:163971	X-linked intellectual disability, Cilliers type
Orphanet:163976	X-linked intellectual disability, Van Esch type
Orphanet:1642	Distal monosomy 9p
Orphanet:1643	Xp22.3 microdeletion syndrome
Orphanet:1646	Partial chromosome Y deletion
Orphanet:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly
Orphanet:166113	Bazex syndrome
Orphanet:166119	Isolated osteopoikilosis
Orphanet:1665	Sporadic fetal brain disruption sequence
Orphanet:1672	Diencephalic syndrome
Orphanet:167635	Scleromyxedema
Orphanet:168486	Congenital neuronal ceroid lipofuscinosis
Orphanet:168491	Late infantile neuronal ceroid lipofuscinosis
Orphanet:168816	Multicystic Mesothelioma
Orphanet:169090	Combined immunodeficiency due to CRAC channel dysfunction
Orphanet:1695	Non-distal trisomy 10q
Orphanet:1699	Trisomy 12p
Orphanet:1702	Non-distal trisomy 13q
Orphanet:1703	Mosaic trisomy 14
Orphanet:1705	Distal trisomy 14q
Orphanet:1706	Mosaic trisomy 15
Orphanet:1707	Distal trisomy 15q
Orphanet:1715	Trisomy 18p
Orphanet:1716	Distal trisomy 18q
Orphanet:171829	6q16 deletion syndrome
Orphanet:171836	Amelogenesis imperfecta-gingival hyperplasia syndrome
Orphanet:171839	Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
Orphanet:172	Progressive familial intrahepatic cholestasis
Orphanet:1738	Trisomy 4p
Orphanet:1742	Trisomy 5p
Orphanet:1745	Distal trisomy 6p
Orphanet:1752	Trisomy 8q
Orphanet:1757	Fibular dimelia-diplopodia syndrome
Orphanet:1759	Thoraco-abdominal enteric duplication
Orphanet:176	Non-rhizomelic chondrodysplasia punctata
Orphanet:1772	45,X/46,XY mixed gonadal dysgenesis
Orphanet:1778	Facial dysmorphism-shawl scrotum-joint laxity syndrome
Orphanet:1779	Dysmorphism-cleft palate-loose skin syndrome
Orphanet:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome
Orphanet:178487	Adult intestinal botulism
Orphanet:178517	Localized pagetoid reticulosis
Orphanet:178536	Primary Cutaneous Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue
Orphanet:1794	Oculomaxillofacial dysostosis
Orphanet:1797	Autosomal dominant spondylocostal dysostosis
Orphanet:180275	Paget Disease of the Breast
Orphanet:1809	Hidrotic ectodermal dysplasia, Halal type
Orphanet:181393	Growth hormone insensitivity syndrome
Orphanet:1819	Epimetaphyseal skeletal dysplasia
Orphanet:1825	Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
Orphanet:1834	Axial mesodermal dysplasia spectrum
Orphanet:1877	Muscular dystrophy-white matter spongiosis syndrome
Orphanet:1879	Melorheostosis with osteopoikilosis
Orphanet:1885	Isolated ectopia lentis
Orphanet:1900	Ehlers-Danlos syndrome, kyphoscoliotic type
Orphanet:1908	Aminopterin/methotrexate embryofetopathy
Orphanet:1909	Indomethacin embryofetopathy
Orphanet:1911	Cocaine embryofetopathy
Orphanet:1912	Fetal hydantoin syndrome
Orphanet:1913	Fetal trimethadione syndrome
Orphanet:1914	Embryofetopathy due to oral anticoagulant therapy
Orphanet:1916	Diethylstilbestrol syndrome
Orphanet:1917	Fetal methylmercury syndrome
Orphanet:1918	Fetal minoxidil syndrome
Orphanet:1919	Phenobarbital embryopathy
Orphanet:1920	Toluene embryopathy
Orphanet:1923	Methimazole embryofetopathy
Orphanet:1926	Diabetic embryopathy
Orphanet:1931	Frontal encephalocele
Orphanet:194	Ocular coloboma
Orphanet:1940	Shoulder and thorax deformity-congenital heart disease syndrome
Orphanet:1942	Myoclonic-astastic epilepsy
Orphanet:1969	Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
Orphanet:199267	Inclusion Body Fibromatosis
Orphanet:199299	Late-onset isolated ACTH deficiency
Orphanet:199310	Tetragametic chimerism
Orphanet:1995	Cleft lip-retinopathy syndrome
Orphanet:199647	Isolated encephalocele
Orphanet:2003	Cleft lip/palate-deafness-sacral lipoma syndrome
Orphanet:2004	Laryngotracheoesophageal cleft
Orphanet:2006	Median cleft lip/mandibule
Orphanet:201	Cowden syndrome
Orphanet:2017	Sternal cleft
Orphanet:202	Crandall syndrome
Orphanet:2028	Juvenile hyaline fibromatosis
Orphanet:2040	Congenital bronchobiliary fistula
Orphanet:2042	Tracheo-esophageal fistula-hypospadias syndrome
Orphanet:2045	FLOTCH syndrome
Orphanet:2062	Progressive non-infectious anterior vertebral fusion
Orphanet:2076	X-linked intellectual disability-epilepsy syndrome
Orphanet:2081	Cerebral gigantism-jaw cysts syndrome
Orphanet:208650	Cryopyrin-associated periodic syndrome
Orphanet:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Orphanet:209943	IRVAN syndrome
Orphanet:210136	Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
Orphanet:2104	Dysmorphism-pectus carinatum-joint laxity syndrome
Orphanet:2123	Diffuse neonatal hemangiomatosis
Orphanet:2130	Hemimelia
Orphanet:2134	Atypical hemolytic-uremic syndrome
Orphanet:2138	46,XX ovotesticular disorder of sex development
Orphanet:2139	Hern
Orphanet:2145	Craniosynostosis, Herrmann-Opitz type
Orphanet:2149	Nodular neuronal heterotopia
Orphanet:2165	Holoprosencephaly-caudal dysgenesis syndrome
Orphanet:2183	Hydrocephalus-obesity-hypogonadism syndrome
Orphanet:2185	Congenital hydrocephalus
Orphanet:2190	Congenital hydronephrosis
Orphanet:2197	Idiopathic hypercalciuria
Orphanet:220295	Xeroderma pigmentosum-Cockayne syndrome complex
Orphanet:220393	Diffuse cutaneous systemic sclerosis
Orphanet:2204	Dysplastic cortical hyperostosis
Orphanet:220489	Rare hereditary hemochromatosis
Orphanet:220493	Joubert syndrome with ocular defect
Orphanet:221008	Rothmund-Thomson syndrome type 1
Orphanet:221016	Rothmund-Thomson syndrome type 2
Orphanet:221074	Marchiafava-Bignami disease
Orphanet:2216	Maternal hyperthermia induced birth defects
Orphanet:222	Erosive pustular dermatosis of the scalp
Orphanet:2233	Hypogonadism-mitral valve prolapse-intellectual disability syndrome
Orphanet:2235	Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
Orphanet:2246	Cerebellar hypoplasia-tapetoretinal degeneration syndrome
Orphanet:2253	Foveal hypoplasia-presenile cataract syndrome
Orphanet:226292	Permanent congenital hypothyroidism
Orphanet:226295	Primary congenital hypothyroidism
Orphanet:226298	Central congenital hypothyroidism
Orphanet:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Orphanet:226310	Peripheral hypothyroidism
Orphanet:226313	Congenital hypothyroidism due to maternal intake of antithyroid drugs
Orphanet:227	Diphallia
Orphanet:227982	Autoimmune polyendocrinopathy type 3
Orphanet:227990	Autoimmune polyendocrinopathy type 4
Orphanet:228116	Hughes-Stovin syndrome
Orphanet:228240	Elastoderma
Orphanet:228277	Familial anetoderma
Orphanet:228312	Autoimmune hemolytic anemia, cold type
Orphanet:228384	5q14.3 microdeletion syndrome
Orphanet:228396	Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
Orphanet:228399	8q12 microduplication syndrome
Orphanet:228402	2q23.1 microdeletion syndrome
Orphanet:228410	Polyvalvular heart disease syndrome
Orphanet:228415	5q35 microduplication syndrome
Orphanet:229717	Isolated agammaglobulinemia
Orphanet:2298	Insulin-resistance syndrome type B
Orphanet:2300	Multiple intestinal atresia
Orphanet:2305	Isotretinoin syndrome
Orphanet:230800	Toxin-mediated infectious botulism
Orphanet:231214	Beta-thalassemia major
Orphanet:231222	Beta-thalassemia intermedia
Orphanet:231230	Beta-thalassemia associated with another hemoglobin anomaly
Orphanet:231237	Delta-beta-thalassemia
Orphanet:231242	Hemoglobin C-beta-thalassemia syndrome
Orphanet:231249	Hemoglobin E-beta-thalassemia syndrome
Orphanet:231580	Primary unilateral adrenal hyperplasia
Orphanet:231625	Adrenocortical carcinoma with pure aldosterone hypersecretion
Orphanet:231632	Ectopic aldosterone-producing tumor
Orphanet:231736	Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
Orphanet:2325	Epidermolysis bullosa simplex with anodontia/hypodontia
Orphanet:2338	Isolated punctate palmoplantar keratoderma
Orphanet:2345	Isolated Klippel-Feil syndrome
Orphanet:2349	Muscular pseudohypertrophy-hypothyroidism syndrome
Orphanet:2357	Bronchogenic cyst
Orphanet:236	Trisomy 9p
Orphanet:2386	Leukoencephalopathy-palmoplantar keratoderma syndrome
Orphanet:238606	Primary orthostatic tremor
Orphanet:2387	Leukonychia totalis
Orphanet:238769	1q44 microdeletion syndrome
Orphanet:2408	Lowe-Kohn-Cohen syndrome
Orphanet:2431	Central bilateral macrogyria
Orphanet:2435	Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
Orphanet:2442	X-linked lymphoproliferative disease
Orphanet:2444	Congenital pulmonary airway malformation
Orphanet:2445	Conotruncal heart malformations
Orphanet:2454	Familial intestinal malrotation-facial anomalies syndrome
Orphanet:2457	Mandibuloacral dysplasia
Orphanet:2476	Medeira-Dennis-Donnai syndrome
Orphanet:247691	Retinal vasculopathy and cerebral leukodystrophy
Orphanet:2477	Megalencephaly
Orphanet:248	Autosomal recessive hypohidrotic ectodermal dysplasia
Orphanet:2487	Lower limb deficiency-hypospadias syndrome
Orphanet:2492	Limb transversal defect-cardiac anomaly syndrome
Orphanet:250	Frontonasal dysplasia
Orphanet:250984	Autosomal recessive Stickler syndrome
Orphanet:251004	Paternal uniparental disomy of chromosome 1
Orphanet:251009	Maternal uniparental disomy of chromosome 1
Orphanet:251014	2q31.1 microdeletion syndrome
Orphanet:251046	6p22 microdeletion syndrome
Orphanet:251066	8p11.2 deletion syndrome
Orphanet:251071	8p23.1 microdeletion syndrome
Orphanet:251076	8p23.1 duplication syndrome
Orphanet:2512	Autosomal recessive primary microcephaly
Orphanet:251510	46,XY partial gonadal dysgenesis
Orphanet:251623	Pituicytoma
Orphanet:2523	Microcephaly-brain defect-spasticity-hypernatremia syndrome
Orphanet:2528	Microcephaly-microcornea syndrome, Seemanova type
Orphanet:253	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
Orphanet:2535	Microcornea-corectopia-macular hypoplasia syndrome
Orphanet:254	Spondylometaphyseal dysplasia
Orphanet:254346	19p13.12 microdeletion syndrome
Orphanet:254478	Lichen planus pemphigoides
Orphanet:254504	Inhalational botulism
Orphanet:254509	Iatrogenic botulism
Orphanet:255	Dopa-responsive dystonia
Orphanet:256	Early-onset generalized limb-onset dystonia
Orphanet:2560	Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
Orphanet:2579	Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
Orphanet:2580	Shoulder and girdle defects-familial intellectual disability syndrome
Orphanet:26	Methylmalonic acidemia with homocystinuria
Orphanet:2601	Myopathy-growth delay-intellectual disability-hypospadias syndrome
Orphanet:2604	Familial visceral myopathy
Orphanet:2611	Linear verrucous nevus syndrome
Orphanet:261102	Distal 7q11.23 microduplication syndrome
Orphanet:261144	14q12 microdeletion syndrome
Orphanet:261204	16p11.2p12.2 microduplication syndrome
Orphanet:261236	16p13.11 microdeletion syndrome
Orphanet:261243	16p13.11 microduplication syndrome
Orphanet:261250	16q24.3 microdeletion syndrome
Orphanet:261290	Trisomy 17p
Orphanet:261295	20p12.3 microdeletion syndrome
Orphanet:261304	Paternal 20q13.2q13.3 microdeletion syndrome
Orphanet:261311	20q13.33 microdeletion syndrome
Orphanet:261318	Trisomy 20p
Orphanet:261337	Distal 22q11.2 microduplication syndrome
Orphanet:261344	Trisomy 1q
Orphanet:26137	Juvenile temporal arteritis
Orphanet:2615	Nakajo-Nishimura syndrome
Orphanet:261519	Maternal uniparental disomy of chromosome X
Orphanet:261524	Paternal uniparental disomy of chromosome X
Orphanet:261529	Ring chromosome Y
Orphanet:261534	49,XXXYY syndrome
Orphanet:262	Duchenne and Becker muscular dystrophy
Orphanet:263455	Hyperinsulinism due to HNF4A deficiency
Orphanet:2676	Neuroectodermal-endocrine syndrome
Orphanet:2677	Neuroepithelioma
Orphanet:2679	Infantile axonal neuropathy
Orphanet:2680	Hypomyelination neuropathy-arthrogryposis syndrome
Orphanet:268249	Mycophenolate mofetil embryopathy
Orphanet:2690	Neutropenia-monocytopenia-deafness syndrome
Orphanet:2695	Bifid nose
Orphanet:2716	Oculo-skeletal-renal syndrome
Orphanet:2722	Odonto-onycho dysplasia-alopecia syndrome
Orphanet:2732	Olivopontocerebellar atrophy-deafness syndrome
Orphanet:2749	Oromandibular-limb hypogenesis syndrome
Orphanet:275543	L1 syndrome
Orphanet:275766	Idiopathic pulmonary arterial hypertension
Orphanet:275864	Behavioral variant of frontotemporal dementia
Orphanet:276280	Hemihyperplasia-multiple lipomatosis syndrome
Orphanet:276413	10q22.3q23.3 microdeletion syndrome
Orphanet:276422	10q22.3q23.3 microduplication syndrome
Orphanet:276556	Hyperinsulinism due to UCP2 deficiency
Orphanet:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency
Orphanet:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Orphanet:276608	Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
Orphanet:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers
Orphanet:2773	Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Orphanet:2779	Osteopathia striata-pigmentary dermopathy-white forelock syndrome
Orphanet:2787	Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
Orphanet:2795	Polycystic ovaries-urethral sphincter dysfunction syndrome
Orphanet:279882	Spasmus nutans
Orphanet:279947	Postorgasmic illness syndrome
Orphanet:28	Vitamin B12-responsive methylmalonic acidemia
Orphanet:280397	Familial Alzheimer-like prion disease
Orphanet:280651	Acrodysostosis with multiple hormone resistance
Orphanet:280785	Bullous diffuse cutaneous mastocytosis
Orphanet:280794	Pseudoxanthomatous diffuse cutaneous mastocytosis
Orphanet:281090	Syndromic X-linked ichthyosis
Orphanet:281122	Self-healing collodion baby
Orphanet:281127	Acral self-healing collodion baby
Orphanet:284180	Xp22.13p22.2 duplication syndrome
Orphanet:2842	Penoscrotal transposition
Orphanet:284227	TEMPI syndrome
Orphanet:284400	Small cell carcinoma of the bladder
Orphanet:2846	Congenital pericardium anomaly
Orphanet:284979	Neonatal Marfan syndrome
Orphanet:286	Ehlers-Danlos syndrome, vascular type
Orphanet:2866	Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
Orphanet:287	Ehlers-Danlos syndrome, classic type
Orphanet:2875	Phakomatosis pigmentovascularis
Orphanet:2894	Pilotto syndrome
Orphanet:289522	Microtriplication 11q24.1
Orphanet:289548	Inherited isolated adrenal insufficiency due to CYP11A1 deficiency
Orphanet:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
Orphanet:290	Congenital rubella syndrome
Orphanet:2908	Kindler syndrome
Orphanet:291	Fetal varicella syndrome
Orphanet:2928	Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
Orphanet:293	Congenital herpes virus infection
Orphanet:293355	Methylmalonic acidemia without homocystinuria
Orphanet:293807	Ketamine-induced biliary dilatation
Orphanet:293939	Distal Xq28 microduplication syndrome
Orphanet:293948	1p21.3 microdeletion syndrome
Orphanet:293967	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Orphanet:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Orphanet:293987	Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome syndrome
Orphanet:294	Fetal cytomegalovirus syndrome
Orphanet:295	Fetal parvovirus syndrome
Orphanet:2956	Prata-Liberal-Goncalves syndrome
Orphanet:2969	Proteus-like syndrome
Orphanet:2973	46,XX disorder of sex development-anorectal anomalies syndrome
Orphanet:2978	Chronic intestinal pseudoobstruction
Orphanet:29822	Spontaneous periodic hypothermia
Orphanet:300373	Familial infantile gigantism
Orphanet:3004	Mirror polydactyly-vertebral segmentation-limbs defects syndrome
Orphanet:300493	Sagliker syndrome
Orphanet:300605	Juvenile amyotrophic lateral sclerosis
Orphanet:3027	Caudal regression sequence
Orphanet:3033	Renal tubular dysgenesis
Orphanet:3050	Intellectual disability-hypotonia-skin hyperpigmentation syndrome
Orphanet:3055	X-linked intellectual disability-short stature-obesity syndrome
Orphanet:306498	PTEN hamartoma tumor syndrome
Orphanet:3074	Intellectual disability-short stature-hypertelorism syndrome
Orphanet:3082	Intellectual disability-polydactyly-uncombable hair syndrome
Orphanet:3090	Congenital pulmonary venous return anomaly
Orphanet:309108	Pancreatic colipase deficiency
Orphanet:3095	Atypical Rett syndrome
Orphanet:3105	Robinow-like syndrome
Orphanet:3109	Mayer-Rokitansky-KC<ster-Hauser syndrome
Orphanet:31142	Oral erosive lichen
Orphanet:31153	Hypoalphalipoproteinemia
Orphanet:313	Lamellar ichthyosis
Orphanet:3137	Alpha-N-acetylgalactosaminidase deficiency
Orphanet:313892	Developmental and speech delay due to SOX5 deficiency
Orphanet:313906	Congenital pancreatic cyst
Orphanet:314	Erythroderma desquamativum
Orphanet:314034	7p22.1 microduplication syndrome
Orphanet:314389	Xq12-q13.3 duplication syndrome
Orphanet:314478	Ovarian fibrothecoma
Orphanet:314585	15q overgrowth syndrome
Orphanet:314621	Duplication of the pituitary gland
Orphanet:314652	Variant ABeta2M amyloidosis
Orphanet:314911	Severe Canavan disease
Orphanet:314918	Mild Canavan disease
Orphanet:3151	Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
Orphanet:316	Progressive symmetric erythrokeratodermia
Orphanet:3169	Sirenomelia
Orphanet:3173	Infantile spasms-broad thumbs syndrome
Orphanet:3176	Spina bifida-hypospadias syndrome
Orphanet:31824	Colchicine poisoning
Orphanet:3188	Congenital pulmonary veins atresia or stenosis
Orphanet:3189	Congenital pulmonary valve stenosis
Orphanet:319195	Chondroectodermal dysplasia with night blindness
Orphanet:319487	Familial papillary or follicular thyroid carcinoma
Orphanet:3196	Steroid dehydrogenase deficiency-dental anomalies syndrome
Orphanet:32	Glutathione synthetase deficiency
Orphanet:3207	White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
Orphanet:3221	Generalized resistance to thyroid hormone
Orphanet:3225	Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
Orphanet:324416	Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
Orphanet:324575	Hyperinsulinism due to HNF1A deficiency
Orphanet:324703	ABetaL34V amyloidosis
Orphanet:324708	ABeta amyloidosis, Iowa type
Orphanet:324713	ABeta amyloidosis, Italian type
Orphanet:324723	ABeta amyloidosis, Arctic type
Orphanet:325124	Testicular agenesis
Orphanet:325345	46,XY ovotesticular disorder of sex development
Orphanet:3266	Humero-radio-ulnar synostosis
Orphanet:3267	Familial lambdoid synostosis
Orphanet:3283	His bundle tachycardia
Orphanet:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Orphanet:329329	Autosomal recessive frontotemporal pachygyria
Orphanet:329475	Spastic paraplegia-Paget disease of bone syndrome
Orphanet:330001	Sessile Serrated Adenoma/Polyp
Orphanet:330021	Mercury poisoning
Orphanet:3305	Tetraploidy
Orphanet:3309	Tetrasomy 5p
Orphanet:3310	Tetrasomy 9p
Orphanet:33111	Granulomatous Slack Skin Disease
Orphanet:3312	Thalidomide embryopathy
Orphanet:3316	Thomas syndrome
Orphanet:33208	Idiopathic hypersomnia
Orphanet:3322	Hoyeraal-Hreidarsson syndrome
Orphanet:3329	Tibial aplasia-ectrodactyly syndrome
Orphanet:33314	Jessner's lymphocytic infiltration of the skin
Orphanet:3332	Hypoplastic tibiae-postaxial polydactyly syndrome
Orphanet:33408	Bullous lichen planus
Orphanet:3346	Tracheal agenesis
Orphanet:335	Congenital fibrinogen deficiency
Orphanet:3353	Trichodermodysplasia-dental alterations syndrome
Orphanet:3357	Autosomal dominant trichoodontoonychodysplasia-syndactyly
Orphanet:3366	Isolated trigonocephaly
Orphanet:3375	Trisomy X
Orphanet:3376	Triploidy
Orphanet:3379	Distal trisomy 17q
Orphanet:3398	Thymus Epithelial Neoplasm
Orphanet:3400	Aorto-ventricular tunnel
Orphanet:3406	Ulerythema ophryogenesis
Orphanet:341	Viral hemorrhagic fever
Orphanet:3448	Weaver-Williams syndrome
Orphanet:346	Quinquaud's folliculitis decalvans
Orphanet:35093	Isolated scaphocephaly
Orphanet:35098	Isolated plagiocephaly
Orphanet:35099	Isolated brachycephaly
Orphanet:35125	Epidermal nevus syndrome
Orphanet:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Orphanet:352649	Brain dopamine-serotonin vesicular transport disease
Orphanet:352723	Attenuated Ch��diak-Higashi syndrome
Orphanet:35688	Madelung deformity
Orphanet:35737	Morning glory syndrome
Orphanet:36204	Intestinal lymphangiectasia
Orphanet:36237	Bullous impetigo
Orphanet:363618	LMNA-related cardiocutaneous progeria syndrome
Orphanet:36367	Distal monosomy 1q
Orphanet:36382	Familial cervical artery dissection
Orphanet:36412	Hypocomplementemic urticarial vasculitis
Orphanet:36913	Autoimmune hypoparathyroidism
Orphanet:369873	Obesity due to SIM1 deficiency
Orphanet:369950	Intellectual disability-seizures-macrocephaly-obesity syndrome
Orphanet:370	Glycogen storage disease due to phosphorylase kinase deficiency
Orphanet:370097	Oculocutaneous albinism type 6
Orphanet:39	Acromelanosis
Orphanet:391411	Atypical juvenile parkinsonism
Orphanet:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Orphanet:391665	Homozygous familial hypercholesterolemia
Orphanet:397685	Familial  hyperprolactinemia
Orphanet:398073	Prader-Willi-like syndrome
Orphanet:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
Orphanet:399808	Male infertility with teratozoospermia due to single gene mutation
Orphanet:408	Isolated glycerol kinase deficiency
Orphanet:411593	Insulin autoimmune syndrome
Orphanet:411777	Generalized eruptive keratoacanthoma
Orphanet:420794	Cono-spondylar dysplasia
Orphanet:42642	PFAPA syndrome
Orphanet:427	Familial hypoaldosteronism
Orphanet:43116	Serotonin syndrome
Orphanet:435638	3p25.3 microdeletion syndrome
Orphanet:435804	Short stature-advanced bone age-early-onset osteoarthritis syndrome
Orphanet:435934	COG2-CDG
Orphanet:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Orphanet:436003	Contractures-developmental delay-Pierre Robin syndrome
Orphanet:436141	Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
Orphanet:436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Orphanet:436182	Microcephalic primordial dwarfism-insulin resistance syndrome
Orphanet:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Orphanet:437	Hypophosphatemic rickets
Orphanet:439232	AApoAIV amyloidosis
Orphanet:44	Neonatal adrenoleukodystrophy
Orphanet:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Orphanet:440713	Isolated sedoheptulokinase deficiency
Orphanet:440727	Combined hamartoma of the retina and retinal pigment epithelium
Orphanet:444	Marie Unna hereditary hypotrichosis
Orphanet:444002	11q22.2q22.3 microdeletion syndrome
Orphanet:444051	20q11.2 microdeletion syndrome
Orphanet:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
Orphanet:444490	Familial chylomicronemia syndrome
Orphanet:454	Acquired ichthyosis
Orphanet:457059	Pseudohypoparathyroidism with Albright hereditary osteodystrophy
Orphanet:46485	Superficial pemphigus
Orphanet:46486	Mucous membrane pemphigoid
Orphanet:46488	Linear IgA dermatosis
Orphanet:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Orphanet:477	KID syndrome
Orphanet:48372	Nodular regenerative hyperplasia of the liver
Orphanet:48686	Primary Effusion Lymphoma
Orphanet:48918	Focal myositis
Orphanet:49	Penile agenesis
Orphanet:49041	IgG4-related retroperitoneal fibrosis
Orphanet:492	Proliferating Pilar Tumor
Orphanet:493	Familial keratoacanthoma
Orphanet:495	Transgrediens et progrediens palmoplantar keratoderma
Orphanet:498	Keratosis pilaris atrophicans
Orphanet:49804	Lichen amyloidosis
Orphanet:505	Graham Little-Piccardi-Lassueur syndrome
Orphanet:50810	Microlissencephaly-micromelia syndrome
Orphanet:50812	Zellweger-like syndrome without peroxisomal anomalies
Orphanet:50918	Kikuchi-Fujimoto disease
Orphanet:50942	Striate palmoplantar keratoderma
Orphanet:517	Acute Myelomonocytic Leukemia
Orphanet:525	Lichen planopilaris
Orphanet:529	Roch-Leri mesosomatous lipomatosis
Orphanet:53715	Familial tumoral calcinosis
Orphanet:53719	Wyburn-Mason syndrome
Orphanet:53721	Cobb syndrome
Orphanet:54028	Plummer-Vinson syndrome
Orphanet:541	Primary Cutaneous CD30-Positive T-Cell Lymphoproliferative Disorder
Orphanet:54251	Corticosteroid-sensitive aseptic abscess syndrome
Orphanet:556	Malakoplakia
Orphanet:55654	Hypotrichosis simplex
Orphanet:562	McCune-Albright syndrome
Orphanet:56425	Cold agglutinin disease
Orphanet:567	22q11.2 deletion syndrome
Orphanet:568	Microphthalmia, Lenz type
Orphanet:569	Familial or sporadic hemiplegic migraine
Orphanet:57145	SUNCT syndrome
Orphanet:57782	Mazabraud syndrome
Orphanet:588	Muscle-eye-brain disease
Orphanet:592	Macrophagic myofasciitis
Orphanet:59315	Rhombencephalosynapsis
Orphanet:598	Multiminicore myopathy
Orphanet:60014	Argyria
Orphanet:60039	Pudendal neuralgia
Orphanet:602	GNE myopathy
Orphanet:617	Congenital primary megaureter
Orphanet:622	Homocystinuria without methylmalonic aciduria
Orphanet:63259	Iniencephaly
Orphanet:63260	Craniorachischisis
Orphanet:63440	Isolated oxycephaly
Orphanet:63455	Paraneoplastic pemphigus
Orphanet:63862	Schisis association
Orphanet:646	Niemann-Pick disease type C
Orphanet:64722	Granulomatous mastitis
Orphanet:64754	Nevus comedonicus syndrome
Orphanet:650	LCAT deficiency
Orphanet:65250	Perineural cyst
Orphanet:653	Multiple Endocrine Neoplasia Type 2
Orphanet:65682	Benign recurrent intrahepatic cholestasis
Orphanet:657	Congenital isolated hyperinsulinism
Orphanet:66518	Short fifth metacarpals-insulin resistance syndrome
Orphanet:66633	Sensorineural hearing loss-early graying-essential tremor syndrome
Orphanet:667	Autosomal recessive malignant osteopetrosis
Orphanet:67043	Acanthamoeba keratitis
Orphanet:671	Primary cutis verticis gyrata
Orphanet:69028	Syndrome with brachydactyly
Orphanet:69061	Idiopathic steroid-sensitive nephrotic syndrome
Orphanet:69063	Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
Orphanet:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Orphanet:69736	Acute bilateral depigmentation of the iris
Orphanet:69744	Circumscribed palmoplantar hypokeratosis
Orphanet:70	Proximal spinal muscular atrophy
Orphanet:700	Alopecia totalis
Orphanet:70475	Radiation proctitis
Orphanet:70476	Vernal keratoconjunctivitis
Orphanet:71267	Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
Orphanet:71273	Renal nutcracker syndrome
Orphanet:71276	Silent sinus syndrome
Orphanet:71493	Familial thrombocytosis
Orphanet:71519	Psychogenic movement disorders
Orphanet:71529	Obesity due to melanocortin 4 receptor deficiency
Orphanet:717	Catecholamine-producing tumor
Orphanet:720	Pili bifurcati
Orphanet:727	Microscopic polyangiitis
Orphanet:732	Polymyositis
Orphanet:73224	Tubular renal disease-cardiomyopathy syndrome
Orphanet:73246	Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
Orphanet:735	Porokeratosis of Mibelli
Orphanet:743	Hereditary thrombophilia due to congenital protein S deficiency
Orphanet:745	Hereditary thrombophilia due to congenital protein C deficiency
Orphanet:75378	Oligocone trichromacy
Orphanet:75389	Brain malformation-congenital heart disease-postaxial polydactyly syndrome
Orphanet:755	Leydig cell hypoplasia
Orphanet:757	Pseudohypoaldosteronism type 2
Orphanet:75857	6q terminal deletion syndrome
Orphanet:759	Central precocious puberty
Orphanet:761	Immunoglobulin A vasculitis
Orphanet:768	Familial long QT syndrome
Orphanet:77258	Trichorhinophalangeal syndrome type 1 and 3
Orphanet:77300	Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
Orphanet:77301	Monosomy 9q22.3
Orphanet:79085	AKT2-related familial partial lipodystrophy
Orphanet:79086	Acquired generalized lipodystrophy
Orphanet:79088	Localized lipodystrophy
Orphanet:79099	Interstitial granulomatous dermatitis with arthritis
Orphanet:79102	Thyrotoxic periodic paralysis
Orphanet:79129	Trichodysplasia-amelogenesis imperfecta syndrome
Orphanet:79132	Sparse hair-short stature-skin anomalies syndrome
Orphanet:79134	DEND syndrome
Orphanet:79152	Disseminated superficial actinic porokeratosis
Orphanet:79168	Disorder of bile acid synthesis
Orphanet:79230	Hemochromatosis type 2
Orphanet:79254	Classic phenylketonuria
Orphanet:79262	Adult neuronal ceroid lipofuscinosis
Orphanet:79263	Infantile neuronal ceroid lipofuscinosis
Orphanet:79281	Alpha-N-acetylgalactosaminidase deficiency type 3
Orphanet:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
Orphanet:79357	Hereditary palmoplantar keratoderma
Orphanet:79361	Inherited epidermolysis bullosa
Orphanet:79373	Ectodermal dysplasia syndrome
Orphanet:79405	Junctional epidermolysis bullosa inversa
Orphanet:79406	Late-onset junctional epidermolysis bullosa
Orphanet:79409	Recessive dystrophic epidermolysis bullosa inversa
Orphanet:79474	Atypical Werner syndrome
Orphanet:79480	Pemphigus erythematosus
Orphanet:79481	Pemphigus foliaceus
Orphanet:79492	Pili gemini
Orphanet:79501	Punctate palmoplantar keratoderma type 1
Orphanet:8	47,XYY syndrome
Orphanet:81	Antisynthetase syndrome
Orphanet:812	Sialidosis type 1
Orphanet:82004	Ehlers-Danlos syndrome with periventricular heterotopia
Orphanet:833	Encephalopathy due to sulfite oxidase deficiency
Orphanet:834	Free sialic acid storage disease
Orphanet:83453	Vulvovaginal gingival syndrome
Orphanet:83465	Narcolepsy without cataplexy
Orphanet:83469	Desmoplastic Small Round Cell Tumor
Orphanet:83472	CAMOS syndrome
Orphanet:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Orphanet:83601	Steroid-responsive encephalopathy associated with autoimmune thyroiditis
Orphanet:83619	Macrostomia-preauricular tags-external ophthalmoplegia syndrome
Orphanet:83628	PELVIS syndrome
Orphanet:838	Susac syndrome
Orphanet:84085	Hinman syndrome
Orphanet:85162	Facial onset sensory and motor neuronopathy
Orphanet:85168	Craniofacial conodysplasia
Orphanet:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Orphanet:85175	Astley-Kendall dysplasia
Orphanet:85197	Genochondromatosis type 1
Orphanet:85198	Dysspondyloenchondromatosis
Orphanet:85284	BRESEK syndrome
Orphanet:85317	X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
Orphanet:85318	X-linked intellectual disability-precocious puberty-obesity syndrome
Orphanet:85320	X-linked intellectual disability-macrocephaly-macroorchidism syndrome
Orphanet:85322	X-linked intellectual disability, Pai type
Orphanet:85325	X-linked intellectual disability, Stevenson type
Orphanet:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
Orphanet:85330	X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome
Orphanet:85334	X-linked neurodegenerative syndrome, Bertini type
Orphanet:85335	Fried syndrome
Orphanet:85336	X-linked neurodegenerative syndrome, Hamel type
Orphanet:85338	X-linked intellectual disability-ataxia-apraxia syndrome
Orphanet:85408	Juvenile rheumatoid factor-negative polyarthritis
Orphanet:85410	Oligoarticular juvenile idiopathic arthritis
Orphanet:85435	Juvenile rheumatoid factor-positive polyarthritis
Orphanet:85438	Enthesitis-related arthritis
Orphanet:85443	AL amyloidosis
Orphanet:85445	AA amyloidosis
Orphanet:86814	Benign adult familial myoclonic epilepsy
Orphanet:86829	Chronic neutrophilic leukemia
Orphanet:86839	Refractory Anemia with Excess Blasts
Orphanet:86849	Acute basophilic leukemia
Orphanet:86852	B-Cell Prolymphocytic Leukemia
Orphanet:86869	Lymphomatoid Granulomatosis
Orphanet:86871	T-Cell Prolymphocytic Leukemia
Orphanet:86880	Enteropathy-Associated T-Cell Lymphoma
Orphanet:86885	Primary cutaneous unspecified peripheral T-cell lymphoma
Orphanet:86909	Myoclonic epilepsy of infancy
Orphanet:86918	Diffuse palmoplantar keratoderma-acrocyanosis syndrome
Orphanet:873	Desmoid-Type Fibromatosis
Orphanet:87876	Sialidosis type 2
Orphanet:88637	Hypomyelination-hypogonadotropic-hypogonadism-hypodontia syndrome
Orphanet:88643	Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
Orphanet:889	Cutaneous leukocytoclastic angiitis
Orphanet:895	Waardenburg syndrome type 2
Orphanet:897	Waardenburg-Shah syndrome
Orphanet:89841	Centripetalis recessive dystrophic epidermolysis bullosa
Orphanet:89842	Recessive dystrophic epidermolysis bullosa-generalized other
Orphanet:9	Tetrasomy X
Orphanet:90033	Autoimmune hemolytic anemia, warm type
Orphanet:90036	Mixed-type autoimmune hemolytic anemia
Orphanet:90037	Drug-induced autoimmune hemolytic anemia
Orphanet:901	Wells syndrome
Orphanet:90156	Centrifugal lipodystrophy
Orphanet:90157	Drug-induced localized lipodystrophy
Orphanet:90158	Idiopathic localized lipodystrophy
Orphanet:90159	Panniculitis and localized lipodystrophy
Orphanet:90160	Pressure-induced localized lipoatrophy
Orphanet:90281	Discoid lupus erythematosus
Orphanet:90285	Lupus erythematosus panniculitis
Orphanet:90308	Klippel-Tr��naunay syndrome
Orphanet:90318	Ehlers-Danlos syndrome type 2
Orphanet:90348	Autosomal dominant cutis laxa
Orphanet:90349	Autosomal recessive cutis laxa type 1
Orphanet:90350	Autosomal recessive cutis laxa type 2
Orphanet:90363	Secondary intestinal lymphangiectasia
Orphanet:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency
Orphanet:90970	Primary lipodystrophy
Orphanet:91133	Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome
Orphanet:91348	Functioning gonadotropic adenoma
Orphanet:91350	Pituitary deficiency due to Rathke's pouch cysts
Orphanet:91351	Pituitary dermoid and epidermoid cysts
Orphanet:91354	Pituitary deficiency due to empty sella turcica syndrome
Orphanet:91385	Acquired angioedema
Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
Orphanet:922	Familial nasal acilia
Orphanet:93109	Congenital megacalycosis
Orphanet:93160	Hypocalcemic vitamin D-resistant rickets
Orphanet:93258	Pfeiffer syndrome type 1
Orphanet:93259	Pfeiffer syndrome type 2
Orphanet:93260	Pfeiffer syndrome type 3
Orphanet:93277	Monostotic fibrous dysplasia
Orphanet:93284	Spondyloepiphyseal dysplasia tarda
Orphanet:93359	Spondyloepimetaphyseal dysplasia with joint laxity
Orphanet:93383	Brachydactyly type B
Orphanet:93387	Brachydactyly type E
Orphanet:93389	Brachydactyly type A5
Orphanet:935	Short-limb skeletal dysplasia with severe combined immunodeficiency
Orphanet:93928	Epispadias
Orphanet:93946	Hamel cerebro-palato-cardiac syndrome
Orphanet:93947	X-linked intellectual disability, Golabi-Ito-Hall type
Orphanet:94063	12q14 microdeletion syndrome
Orphanet:94065	15q24 microdeletion syndrome
Orphanet:94066	Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
Orphanet:945	Acalvaria
Orphanet:946	Acrocephalosyndactyly
Orphanet:95409	Acute adrenal insufficiency
Orphanet:95432	Primary progressive aphasia
Orphanet:95484	Aneurysm or dilatation of ascending aorta
Orphanet:95496	Pituitary stalk interruption syndrome
Orphanet:956	Acro-pectoro-renal dysplasia
Orphanet:95619	Iatrogenic or traumatic pituitary deficiency
Orphanet:95626	Acquired central diabetes insipidus
Orphanet:95707	Isolated micropenis
Orphanet:95712	Thyroid ectopia
Orphanet:95713	Athyreosis
Orphanet:95714	Primary congenital hypothyroidism without thyroid developmental anomaly
Orphanet:95715	Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies
Orphanet:95717	Idiopathic congenital hypothyroidism
Orphanet:95719	Thyroid hemiagenesis
Orphanet:95720	Thyroid hypoplasia
Orphanet:95854	Levocardia
Orphanet:959	Acro-renal-ocular syndrome
Orphanet:96061	Mosaic trisomy 8
Orphanet:96092	8p inverted duplication/deletion syndrome
Orphanet:96123	Monosomy 22
Orphanet:96129	Distal monosomy 19p13.3
Orphanet:96168	Monosomy 13q34
Orphanet:96176	Ring chromosome 13
Orphanet:96179	Maternal uniparental disomy of chromosome 2
Orphanet:96180	Maternal uniparental disomy of chromosome 4
Orphanet:96181	Maternal uniparental disomy of chromosome 6
Orphanet:96191	Paternal uniparental disomy of chromosome 6
Orphanet:96201	X small rings
Orphanet:96263	48,XXXY syndrome
Orphanet:96264	49,XXXXY syndrome
Orphanet:966	Hypertrichosis-acromegaloid facial appearance syndrome
Orphanet:970	Hereditary sensory and autonomic neuropathy type 2
Orphanet:972	Hereditary continuous muscle fiber activity
Orphanet:97230	Solar urticaria
Orphanet:97231	Ligneous conjunctivitis
Orphanet:97240	Zebra body myopathy
Orphanet:97261	GRFoma
Orphanet:97278	PPoma
Orphanet:97280	Pancreatic Glucagonoma
Orphanet:97332	Kienbock disease
Orphanet:97341	Persistent placoid maculopathy
Orphanet:97927	Peripheral resistance to thyroid hormones
Orphanet:98028	Rare circulatory system disease
Orphanet:981	Internal carotid agenesis
Orphanet:98697	Genetic keratinization disorder associated with ocular features
Orphanet:98731	Congenital arteriovenous fistula
Orphanet:98797	Isochromosomy Yp
Orphanet:98798	Isochromosomy Yq
Orphanet:988	Absent tibia-polydactyly syndrome
Orphanet:98823	Chronic myelomonocytic leukemia
Orphanet:98842	Lymphomatoid papulosis
Orphanet:98941	Von Hippel anomaly
Orphanet:99329	48,XYYY syndrome
Orphanet:99330	49,XYYYY syndrome
Orphanet:99429	Complete androgen insensitivity syndrome
Orphanet:99688	Dermotrichic syndrome
Orphanet:99725	Pituitary gigantism
Orphanet:99734	Myotonia fluctuans
Orphanet:99735	Myotonia permanens
Orphanet:99736	Acetazolamide-responsive myotonia
Orphanet:99776	Mosaic trisomy 9
Orphanet:99803	Haddad syndrome
Orphanet:99825	Nipah virus disease
Orphanet:99832	Resistance to thyrotropin-releasing hormone syndrome
Orphanet:99852	RAVINE syndrome
Orphanet:99871	Eosinophilic Granuloma
Orphanet:99872	Hashimoto-Pritzker syndrome
Orphanet:99873	Hand-SchC<ller-Christian disease
Orphanet:99874	Adult pulmonary Langerhans cell histiocytosis
Orphanet:99875	Ehlers-Danlos syndrome type 7A
Orphanet:99876	Ehlers-Danlos syndrome type 7B
Orphanet:99878	Primary parathyroid hyperplasia
Orphanet:99879	Familial isolated hyperparathyroidism
Orphanet:99892	ACTH-dependent Cushing syndrome
Orphanet:99893	ACTH-independent Cushing syndrome
Orphanet:99921	Chronic graft versus host disease
Orphanet:99925	Invasive Hydatidiform Mole
Orphanet:99927	Hydatidiform Mole
Orphanet:99965	O'Sullivan-McLeod syndrome
Orphanet:99966	Atypical teratoid rhabdoid tumor