| Diagnosis | Omim Number | Sample Count |
| CAMPOMELIC DYSPLASIA | 114290 | 3 |
| CANAVAN DISEASE | 271900 | 6 |
| CANCER OF THE BREAST, FAMILIAL; BCS | 114480 | 20 |
| CANINE GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1 | | 2 |
| CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY | 237300 | 8 |
| CARBONIC ANHYDRASE I; CA1 | 114800 | 4 |
| CARBOXYPEPTIDASE N DEFICIENCY | 212070 | 1 |
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 | 192600 | 2 |
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4 | 115197 | 2 |
| CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP | 212140 | 4 |
| CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET | 255110 | 2 |
| CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD | 212138 | 3 |
| CARNOSINEMIA | 212200 | 1 |
| CAROTID DISSECTION | 147820 | 1 |
| CARTILAGE-HAIR HYPOPLASIA; CHH | 250250 | 14 |
| CATALASE; CAT ACATALASEMIA, INCLUDED | 115500 | 1 |
| CD40 LIGAND; CD40LG | 300386 | 1 |
| CENTRAL CORE DISEASE OF MUSCLE | 117000 | 25 |
| CEREBELLAR HYPOPLASIA | 213000 | 1 |
| CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1 | 125310 | 5 |
| CEREBRAL CAVERNOUS MALFORMATIONS | 116860 | 460 |
| CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 | | 50 |
| CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | | 13 |
| CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3 | | 2 |
| CEREBRAL INFARCTION, SILENT | 601367 | 14 |
| CEREBROOCULOFACIOSKELETAL SYNDROME | 214150 | 2 |
| CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4 | 610758 | 1 |
| CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 | 256730 | 13 |
| CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2 | 204500 | 14 |
| CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3 | 204200 | 6 |
| CERVICAL DYSTONIA | | 37 |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D | 601472 | 1 |
| CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B | 118200 | 2 |
| CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A | 118220 | 13 |
| CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C | 601596 | 1 |
| CHARCOT-MARIE-TOOTH DISEASE; INHERITANCE UNKNOWN | | 3 |
| CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED; CMTX1 | 302800 | 6 |
| CHEDIAK-HIGASHI SYNDROME; CHS1 LYSOSOMAL TRAFFICKING REGULATOR, INCLUDED; LYST, INCLUDED | 214500 | 5 |
| CHERUBISM | 118400 | 1 |
| CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1 | 211600 | 21 |
| CHONDRODYSTROPHY | | 1 |
| CHOROIDEREMIA; CHM | 303100 | 22 |
| CHROMOSOME 13Q DELETION SYNDROME | | 1 |
| CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME | 608636 | 29 |
| CHROMOSOME 16P12.1 DELETION SYNDROME | 136570 | 51 |
| CHROMOSOME 1P36 DELETION SYNDROME | 607872 | 47 |
| CHROMOSOME 2Q37 DELETION SYNDROME | 600430 | 1 |
| CHROMOSOME 5Q DELETION SYNDROME | 153550 | 1 |
| CHROMOSOME XP11.3 DELETION SYNDROME | | 4 |
| CHRONIC GRANULOMATOUS DISEASE (XK-RELATED; CGD) - 306400 OR 314850 | 306400 | 1 |
| CHRONIC GRANULOMATOUS DISEASE (XK-RELATED; CGD) - 306400 OR 314850 | 314850 | 1 |
| CILIARY DYSKINESIA, PRIMARY, 1; CILD1 | 244400 | 1 |
| CIRRHOSIS, FAMILIAL CIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED | 215600 | 6 |
| CITRULLINEMIA, CLASSIC | 215700 | 31 |
| 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; CLPED1 | 225060 | 2 |
| CLEFT PALATE, ISOLATED; CPI | 119540 | 3 |
| CLEFT PALATE, SYNDROMIC | | 1 |
| CLEIDOCRANIAL DYSPLASIA; CCD | 119600 | 2 |
| COAGULATION FACTOR II; F2 | 176930 | 2 |
| COCKAYNE SYNDROME TYPE A - 216400 | 216400 | 34 |
| COCKAYNE SYNDROME TYPE UNSPECIFIED | | 17 |
| COCKAYNE SYNDROME, TYPE A; CSA | 216400 | 5 |
| CODAS SYNDROME | 600373 | 1 |
| COFFIN-LOWRY SYNDROME; CLS | 303600 | 3 |
| COLORECTAL CANCER, FAMILIAL | 114500 | 8 |
| COMMON VARIABLE IMMUNODEFICIENCY | 240500 | 13 |
| COMPLETE PATERNAL UNIPARENTAL DISOMY | | 3 |
| CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD | | 2 |
| CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | | 51 |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia | 212065 | 8 |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic | 603147 | 1 |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | 601110 | 2 |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie | 608799 | 1 |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If | 609180 | 1 |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig | 607143 | 2 |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij | 608093 | 1 |
| CONGENITAL HEART DISEASE; TRANSPOSITION OF GREAT VESSELS | | 1 |
| CONGENITAL HEART DISEASE; TRUNCUS ARTERIOSUS | | 1 |
| CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA | 121050 | 3 |
| CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6; FECD6 | | 1 |
| CORNELIA DE LANGE SYNDROME 1; CDLS1 | 122470 | 11 |
| CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME | | 3 |
| CORTICOBASAL DEGENERATION | 168600 | 13 |
| COWDEN DISEASE; CD | 158350 | 3 |
| CRANIAL DYSTONIA - BLEPHAROSPASM ONLY | | 9 |
| CRANIAL DYSTONIA - OROMANDIBULAR | | 5 |
| CRANIAL DYSTONIA - UPPER AND LOWER FACIAL MOVEMENT | | 3 |
| CRANIOSYNOSTOSIS, SYNDROMIC | 123100 | 1 |
| CRI-DU-CHAT SYNDROME | 123450 | 37 |
| CRIGLER-NAJJAR SYNDROME | 218800 | 4 |
| CUTIS LAXA | 219100 | 5 |
| CYSTATHIONINURIA | 219500 | 7 |
| CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR | 602421 | 11 |
| CYSTIC FIBROSIS; CF | 219700 | 196 |
| CYSTINOSIS, ADULT NONNEPHROPATHIC | 219750 | 2 |
| CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE | 219900 | 4 |
| CYSTINOSIS, NEPHROPATHIC; CTNS | 219800 | 17 |
| CYSTINURIA; CSNU | 220100 | 7 |