Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation | EMC1 | CAVIPMR | 616875 | autosomal recessive |
| Cerebral Amyloid Angiopathy | ITM2B | familial Danish dementia, FDD | 117300 | autosomal dominant |
| Cerebral Atrophy, Autosomal Recessive | TMPRSS4 | 606565 | autosomal recessive | |
| Cerebral Cavernous Malformations | KRIT1, CCM2/malcavernin, PDCD10 | CAM, CCM, cerebral capillary malformations, familial cavernous angioma, cavernous angiomatous malformations | 603284, 116860, 603285 | autosomal dominant |
| Cerebral Palsy, Spastic Quadriplegic, 3 | ADD3 | CPSQ3 | 617008 | autosomal recessive |
| Cerebrooculofacioskeletal Syndrome | ERCC6 | COFS syndrome, Pena-Shokeir syndrome, optic atrophy, type II Cockayne syndrome, CS II, COFS1 | 214150 | autosomal recessive |
| Cerebrotendinous Xanthomatosis | CYP27A1 | CTX, cerebral cholesterinosis | 213700 | autosomal recessive |
| Charcot-Marie-Tooth Disease with Glaucoma | SBF2 | CMT4B2, Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma | 604563 | autosomal recessive |
| Charcot-Marie-Tooth Disease(s) | multiple | CMT | 609260, 604563, 302800 | autosomal recessive, autosomal dominant, X-linked recessive, X-linked dominant |
| CHARGE Syndrome | CHD7, SEMA3E | HHS, CHARGE association, Hall-Hittner syndrome | 214800 | autosomal dominant |
| Chédiak-Higashi Syndrome | LYST | CHS | 214500 | autosomal recessive |
| Chondrodysplasia Punctata 2 | EBP | CDPX2, CPXD, Conradi-Hünermann syndrome, Happle syndrome, CDPXD | 302960 | X-linked dominant |
| CHOPS Syndrome | AFF4 | CHOPS, cognitive impairment coarse facies heart defects obesity airway anomalies short stature and skeletal dysplasia syndrome | 616368 | autosomal dominant |
| Chorioretinal dysplasia, lymphedema, and microcephaly | KIF11 | lymphedema and retinal folds with microcephaly and microphthalmos, microcephaly with lymphedema and chorioretinal dysplasia syndrome | 152950 | autosomal dominant |
| Chorioretinal dysplasia, microcephaly, and mental retardation | ? | chorioretinal dysplasia-microcephaly-mental retardation syndrome | 156590 | autosomal dominant |
| Chorioretinopathy with Microcephaly 1 | TUBGCP6 | chorioretinal dysplasia-microcephaly-mental retardation syndrome, MCCRP1, TUBGCP6 | 251270 | autosomal recessive |
| Chorioretinopathy with Microcephaly 2 | PLK4 | MCCRP2 | 616171 | autosomal recessive |
| Chorioretinopathy with Microcephaly 3 | TUBGCP4 | MCCRP3 | 616335 | autosomal recessive |
| Chorioretinopathy, Ataxia, and Hypogonadism | PNPLA6 | Boucher-Neuhauser syndrome, BNHS | 215470 | autosomal recessive? |
| Choroidal Dystrophy, Central Areolar 1 | GUCY2D | CACD1, CACD, choroidal sclerosis, choroidal macular dystrophy | 215500 | autosomal dominant |
| Choroidal Dystrophy, Central Areolar 2 | PRPH2 | CACD2, progressive macular dystrophy | 613105 | autosomal dominant |
| Choroideremia | CHM | choroidal sclerosis, TCD, tapetochoroidal dystrophy | 303100 | X-linked recessive |
| Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features | KDM1A | CPRF | 616728 | autosomal dominant |
| Coats Plus Syndrome | CTC1 | cerebroretinal microangiopathy with calcifications and cysts, CRMCC | 612199 | autosomal recessive |
| Cockayne Syndrome, Type A | ERCC8 | CSI, CKN1 | 216400 | autosomal recessive |
| Cockayne Syndrome, Type B | ERCC6 | CSII, CKN2 | 133540 | autosomal recessive |
| CODAS Syndrome | LONP1 | cerebral ocular dental auricular skeletal anomalies syndrome | 600373 | autosomal recessive |
| Cohen Syndrome | COH1, VPS13B | COH1, Pepper syndrome | 216550 | autosomal recessive |
| Cole-Carpenter Syndrome 1 | P4HB | CLCRP1, bone fragility with craniosynostosis ocular proptosis hydrocephalus and distinctive facial features | 112240 | autosomal dominant |
| Cole-Carpenter Syndrome 2 | SEC24D | CLCRP2 | 616294 | autosomal recessive |
| Coloboma of the Optic Nerve | PAX6 | morning glory disc, optic nerve pits | 120430 | autosomal dominant |
| Coloboma, Isolated | PAX6, SHH, ABCB6 | uveoretinal coloboma, uveal coloboma, ocular coloboma | 120200 | autosomal dominant |
| Coloboma, Microphthalmia, Albinism, and Deafness | MITF | COMMAD | 617306 | autosomal recessive? |
| Coloboma, Ptosis, Hypertelorism, and Global Delay | ACTG1 | Baraitser-Winter syndrome-1 | 243310 | autosomal dominant? |
| Color Blindness, Red-Green, Partial | OPN1MW, OPN1LW | deuteranomaly, deuteranopia, green color blindness, deutan color blindness, DCB, protanopia, protanomaly, red color blindness | 303800, 303900 | X-linked recessive |
| Colorblindness-Achromatopsia 2 | CNGA3 | rod monochromatism, RMCH2, ACHM2 | 216900 | autosomal recessive |
| Colorblindness-Achromatopsia 3 | CNGB3 | ACHM3, achromatopsia with myopia, rod monochromatism, Pingelapese blindness | 262300 | autosomal recessive |
| Colorblindness-Achromatopsia 4 | GNAT2 | achromatopsia 4, ACHM4 | 139340 | autosomal recessive |
| Colorblindness-Achromatopsia 5 | PDE6C | ACHM5, cone dystrophy 4, COD4 | 613093 | autosomal recessive |
| Colorblindness-Tritanopia | OPN1SW | tritan colorblindness, CBT, tritanopic colorblindness, blue colorblindness | 190900 | autosomal dominant |