Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Canavan Disease | ASPA | Canavan-van Gogaert-Bertrand disease, spongy degeneration of central nervous system, aspartoacylase deficiency, ASPA deficiency, ASP deficiency, ACY2 deficiency, aminoacylase 2 deficiency | 271900 | autosomal recessive |
| Carey-Fineman-Ziter Syndrome | MYMK | congenital nonprogressive myopathy with Moebius and Robin sequences, CFZS | 254940 | autosomal recessive |
| Carpenter Syndrome | RAB23 | acrocephalopolysyndactyly type II, ACPS II | 201000 | autosomal recessive |
| Cataracts 13, Congenital, in Adult i RBC Phenotype | GCNT2 | GCNT2, CTRCT13 | 116700 | autosomal recessive |
| Cataracts 34 | FOXE3 | CTRCT34, cataract 34 multiple types with or without microcornea | 612968 | autosomal recessive |
| Cataracts 43 | UNC45B | CTRCT43 | 616279 | autosomal dominant |
| Cataracts 45 | SIPA1L3 | CTRCT45 | 616851 | autosomal recessive |
| Cataracts 46, Juvenile-Onset | LEMD2 | juvenile cataract Hutterite type, CTRCT46 | 212500 | autosomal recessive |
| Cataracts and Ichthyosis | ? | 212400 | ? | |
| Cataracts, Anterior Polar 2 | 17p13 locus | CTAA2 | 601202 | autosomal dominant |
| Cataracts, Anterior Polar with Guttata | TMCO3 | 121390 | autosomal dominant | |
| Cataracts, Ataxia, Short Stature, and Mental Retardation | Xpter-q13.1 locus | CASH syndrome | 300619 | X-linked recessive |
| Cataracts, Congenital Cerulean | CRYBB2, MAF, CRYGD, CCA5 | blue dot congenital cataract, CCA1, CCA2, CCA3, CCA4, CCA5 | 115660, 601547, 608983, 610202, 614422 | autosomal dominant |
| Cataracts, Congenital Nuclear | CRYBB1, CRYBB3 | CATCN1, CATCN2, CATCN3 | 609376, 609741, 611544 | autosomal recessive |
| Cataracts, Congenital Sutural with Punctate and Cerulean Opacities | CRYBB2 | CSPC | 607133 | autosomal dominant |
| Cataracts, Congenital with Sclerocornea and Glaucoma | PXDN | Anterior Segment Dysgenesis 7, ASGD7 | 269400 | autosomal recessive |
| Cataracts, Congenital Zonular Pulverulent 1 | GJA8 | CAE1, Duffy-linked cataract, CZP1, CZP, CTRCT1 | 116200 | autosomal dominant |
| Cataracts, Congenital Zonular Pulverulent 3 | GJA3 | CZP3 | 601885 | autosomal dominant |
| Cataracts, Congenital Zonular With Sutural Opacities | CRYBA1 | CCZS | 600881 | autosomal dominant |
| Cataracts, Congenital, and Hypomyelinating Leukodystrophy | FAM126A | hypomyelination and congenital cataract, HCC | 610532 | autosomal recessive |
| Cataracts, Congenital, Autosomal Dominant | PAX6, BFSP2, MIP, GJA3 | lens opacities | 604219, 611597 | autosomal dominant |
| Cataracts, Congenital, Autosomal Recessive 2 | FYCO1 | CATC2 | 610019 | autosomal recessive |
| Cataracts, Congenital, Autosomal Recessive 3 | 1p34.3-p32.2 locus | CATC3 | 612968 | autosomal recessive |
| Cataracts, Congenital, Autosomal Recessive 4 | TDRD7 | CATC4 | 613887 | autosomal recessive |
| Cataracts, Congenital, Autosomal Recessive 5 | AGK | CATC5 | 614691 | autosomal recessive |
| Cataracts, Congenital, Deafness, Short Stature, Developmental Delay | MAF | Ayme-Gripp syndrome | 601088 | autosomal dominant |
| Cataracts, Congenital, Facial Dysmorphism, and Neuropathy | CTDP1 | CCFDN, congenital cataracts with facial dysmorphism and neuropathy | 604168 | autosomal recessive |
| Cataracts, Congenital, Intellectual Disability, Abnormal Striatum, and ADHD | KCNA4 | autosomal recessive | ||
| Cataracts, Congenital, Posterior Polar | EPHA2 | CTPP1, CTPA, CTPP, posterior polar cataract | 116600 | autosomal dominant |
| Cataracts, Congenital, Volkmann Type | 1pter-p36.13 locus | CCV, Volkmann type congenital cataract | 115665 | autosomal dominant |
| Cataracts, Congenital, with Brain Hemorrhage and Subependymal Calcification | JAM3 | 613730 | autosomal recessive | |
| Cataracts, Congenital, with Cleft Palate | ? | autosomal dominant | ||
| Cataracts, Congenital, with Intellectual Disability | STX3 | autosomal recessive | ||
| Cataracts, Congenital, With Short Stature and Minor Skeletal Anomalies | BRD4 | autosomal dominant | ||
| Cataracts, Congenital, X-Linked | NHS | CXN, CCT, congenital total cataract with posterior sutural opacities in heterozygotes | 302200, 302350 | X-linked recessive |
| Cataracts, Coppock-Like | CRYBB2, CRYGC, GJA3 | CCL, Coppock-like cataract | 604307 | autosomal dominant |
| Cataracts, CRYAA Mutations | CRYAA | zonular central nuclear cataract, crystallin alpha-1, CRYAA, autosomal recessive congenital cataract 1, CATC1, autosomal dominant nuclear cataract, autosomal dominant nuclear with iris coloboma, autosomal dominant cataract with microcornea | 123580 | autosomal recessive, autosomal dominant |
| Cataracts, Growth Hormone Deficiency, and Skeletal Dysplasia | IARS2 | CAGSSS | 616007 | autosomal recessive |
| Cataracts, Hearing Loss, and Neurodegeneration | SLC33A1 | 614482 | autosomal recessive | |
| Cataracts, Lamellar | HSF4 | zonular cataract, perinuclear cataract, Marner cataract, CAM, CTM | 116800 | autosomal dominant |