Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Corneal Dystrophy, Stocker-Holt | KRT12 | juvenile hereditary epithelial dystrophy | 122100 | autosomal dominant |
| Corneal Dystrophy, Subepithelial Mucinous | unknown | subepithelial mucinous corneal dystrophy, SMCD | 612867 | autosomal dominant |
| Corneal Dystrophy, Thiel-Behnke | TGFBI | Thiel-Behnke corneal dystrophy, honeycomb corneal dystrophy, corneal dystrophy of Bowman layer type II, CDB2, CDB type II, CDTB, TBCD | 602082 | autosomal dominant |
| Cornelia de Lange Syndrome | NIPBL, SMC1A, SMC3, RAD21, HDAC8 | CDL, Brachmann-de Lange syndrome, de Lange syndrome, BDLS, CDLS1 | 122470, 300590, 610759 | autosomal recessive, autosomal dominant, X-linked |
| Corpus Callosum Agenesis with Facial Anomalies and Cerebellar Ataxia | FRMD4A | CCAFCA, Birk-Flusser syndrome | 616819 | autosomal recessive |
| Cranial Dysinnervation Disorders with Strabismus and Arthrogryposis | ECEL1, PIEZO2 | distal arthrogryposis type 5D, DA5D, DA5, oculomelic amyoplasia | 108145, 615065 | autosomal recessive, autosomal dominant |
| Craniofacial-Deafness-Hand Syndrome | PAX3 | CDHS | 122880 | autosomal dominant |
| Crouzon Syndrome | FGFR2 | craniofacial dysostosis type I, CFD1, Crouzon craniofacial dysostosis | 123500 | autosomal dominant |
| Cryptophthalmos | FREM2 | simple ankyloblepharon | 123570 | autosomal dominant |
| Cystinosis | CTNS | cystinosin defect, deficiency of lysosomal cystine transport protein | 219800 | autosomal recessive |