Diseases List
 
 
DiagnosisOmim NumberSample Count
CAMPOMELIC DYSPLASIA1142903
CANAVAN DISEASE2719005
CANCER OF THE BREAST, FAMILIAL; BCS11448017
CANINE GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1 2
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY2373008
CARBONIC ANHYDRASE I; CA11148004
CARBOXYPEPTIDASE N DEFICIENCY2120701
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP2121404
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET2551102
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD2121383
CARNOSINEMIA2122001
CAROTID DISSECTION1478201
CARTILAGE-HAIR HYPOPLASIA; CHH25025014
CATALASE; CAT ACATALASEMIA, INCLUDED1155001
CD40 LIGAND; CD40LG3003861
CENTRAL CORE DISEASE OF MUSCLE11700012
CEREBELLAR HYPOPLASIA2130001
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL11253104
CEREBRAL CAVERNOUS MALFORMATIONS116860286
CEREBRAL INFARCTION, SILENT60136714
CEREBROOCULOFACIOSKELETAL SYNDROME2141502
CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS46107581
CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN125673013
CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN220450012
CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN32042006
CERVICAL DYSTONIA 1
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D6014721
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B1182001
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A11822012
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C6015961
CHARCOT-MARIE-TOOTH DISEASE; INHERITANCE UNKNOWN 3
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED; CMTX13028006
CHEDIAK-HIGASHI SYNDROME; CHS1 LYSOSOMAL TRAFFICKING REGULATOR, INCLUDED; LYST, INCLUDED2145005
CHERUBISM1184001
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC121160021
CHONDRODYSTROPHY 1
CHOROIDEREMIA; CHM30310021
CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME60863619
CHROMOSOME 16P12.1 DELETION SYNDROME13657051
CHROMOSOME 1P36 DELETION SYNDROME60787246
CHROMOSOME 2Q37 DELETION SYNDROME6004301
CHROMOSOME 5Q DELETION SYNDROME1535501
CHRONIC GRANULOMATOUS DISEASE (XK-RELATED; CGD) - 306400 OR 3148503064001
CHRONIC GRANULOMATOUS DISEASE (XK-RELATED; CGD) - 306400 OR 3148503148501
CILIARY DYSKINESIA, PRIMARY, 1; CILD12444001
CIRRHOSIS, FAMILIAL CIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED2156006
CITRULLINEMIA, CLASSIC21570030
CITRULLINEMIA, TYPE II, NEONATAL-ONSET 2
CLEFT HAND AND ABSENT TIBIA 1
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, POSSIBLY SYNDROMIC 1
CLEFT LIP/PALATE - ECTODERMAL DYSPLASIA SYNDROME; CLPED12250602
CLEFT PALATE, ISOLATED; CPI1195403
CLEFT PALATE, SYNDROMIC 1
CLEIDOCRANIAL DYSPLASIA; CCD1196002
COAGULATION FACTOR II; F21769303
COCKAYNE SYNDROME TYPE A - 216400 OR TYPE III - 21641121640033
COCKAYNE SYNDROME TYPE A - 216400 OR TYPE III - 21641121641133
COCKAYNE SYNDROME TYPE UNSPECIFIED 17
COCKAYNE SYNDROME, TYPE A; CSA2164004
CODAS SYNDROME6003731
COFFIN-LOWRY SYNDROME; CLS3036003
COLORECTAL CANCER, FAMILIAL 8
COMMON VARIABLE IMMUNODEFICIENCY24050013
COMPLETE PATERNAL UNIPARENTAL DISOMY 3
CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG 51
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia2120656
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic6031471
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id6011102
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie6087991
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If6091801
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig6071432
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij6080931
CONGENITAL HEART DISEASE; TRANSPOSITION OF GREAT VESSELS 1
CONGENITAL HEART DISEASE; TRUNCUS ARTERIOSUS 1
CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA1210503
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6; FECD6 1
CORNELIA DE LANGE SYNDROME 1; CDLS112247011
CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME 3
CORTICOBASAL DEGENERATION16860013
COWDEN DISEASE; CD1583503
CRANIAL DYSTONIA - BLEPHAROSPASM ONLY 2
CRI-DU-CHAT SYNDROME12345037
CRIGLER-NAJJAR SYNDROME2188004
CUTIS LAXA2191005
CYSTATHIONINURIA2195007
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR60242111
CYSTIC FIBROSIS; CF219700196
CYSTINOSIS, ADULT NONNEPHROPATHIC2197502
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE2199004
CYSTINOSIS, NEPHROPATHIC; CTNS21980017
CYSTINURIA; CSNU2201007