Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Combined Oxidative Phosphorylation Deficiency 32 | MRPS34 | COXPD32 | 617664 | autosomal recessive |
| Cone Dystrophy 3 | GUCA1A (GCAP1) | retinal cone dystrophy, CORD14, COD3, cone-rod dystrophy 14 | 602093 | autosomal dominant |
| Cone Dystrophy, Peripheral | ? | 609021 | autosomal recessive? | |
| Cone-Rod Dystrophies, AD and AR | CRX | Cone-rod dystrophy, CRD, CORD | 120970 | autosomal recessive, autosomal dominant |
| Cone-Rod Dystrophies, X-Linked | CACNA1F, RPGR | COD1, CORDX1, CORDX2, CORDX3 | 304020, 300085, 300476 | X-linked recessive, X-linked dominant |
| Cone-Rod Dystrophy With Decreased Male Fertility | TTLL5 | CORD19 | 615860 | autosomal recessive |
| Cone-Rod Dystrophy with Hearing Loss | CEPL78 | CRDHL | 617236 | autosomal recessive |
| Congenital Disorder of Glycosylation, Type Ia | PMM2 | CDG Ia, CDGIa, Jaeken syndrome, phosphomannomutase 2 deficiency | 212065 | autosomal recessive |
| Congenital Disorder of Glycosylation, Type Ij | DPAGT1 | CDG-Ij, CDG-1j, DPAGT1-CDG (CDG-lj) | 608093 | autosomal recessive |
| Congenital Disorder of Glycosylation, Type Iq | SRD5A3 | CDG1Q, CDGIq, CDG syndrome, carbohydrate-deficient glycoprotein syndrome | 612379 | autosomal recessive |
| Congenital Heart Defects, Dysmorphic Facies, and Intellectual Developmental Disorder | CDK13 | CHDFIDD | 617360 | autosomal dominant |
| Conjunctivitis, Ligneous | PLG | plasminogen deficiency type I, dysplasminogenemia | 217090 | autosomal recessive |
| Cornea Plana | KERA | CNA 1, CNA 2 | 121400, 217300 | autosomal recessive, autosomal dominant |
| Cornea, Ring Dermoid | PITX2 | ring dermoid of cornea, RDC | 180550 | autosomal dominant |
| Corneal Dystrophy, Avellino Type | TGFBI | CDA, Avellino corneal dystrophy, combined granular-lattice corneal dystrophy, granular corneal dystrophy, ACD, GCD2 | 607541 | autosomal dominant |
| Corneal Dystrophy, Band-Shaped | ? | band keratopathy | 217500 | autosomal recessive, autosomal dominant? |
| Corneal Dystrophy, Congenital Endothelial 1 | 20p11.2-q11.2 locus | Maumenee corneal dystrophy, congenital hereditary endothelial dystrophy, CHED1 | 121700 | autosomal dominant |
| Corneal Dystrophy, Congenital Endothelial 2 | SLC4A11 | congenital hereditary endothelial dystrophy of cornea, Maumenee corneal dystrophy, CHED2 | 217700 | autosomal recessive |
| Corneal Dystrophy, Congenital Stromal | DCN | congenital stromal corneal dystrophy, CSCD, Witschel dystrophy, congenital hereditary stromal dystrophy | 610048 | autosomal dominant |
| Corneal Dystrophy, Endothelial X-Linked | Xq25 locus | X-linked endothelial corneal dystrophy, XECD | 300779 | X-linked recessive, X-linked dominant |
| Corneal Dystrophy, Epithelial Basement Membrane | TGFBI | anterior basement membrane dystrophy, Cogan corneal dystrophy, microcystic corneal dystrophy, EBMD, map-dot-fingerprint corneal dystrophy | 121820 | autosomal dominant |
| Corneal Dystrophy, Fleck | PIKFYVE, (PIP5K3) | fleck corneal dystrophy, Francois-Neetens fleck dystrophy | 121850 | autosomal dominant |
| Corneal Dystrophy, Fuchs Endothelial, Early Onset | COL8A2 | FECD1, early onset endothelial corneal dystrophy | 136800 | autosomal dominant |
| Corneal Dystrophy, Fuchs Endothelial, Late Onset | ZEB1 | FCD1, late onset corneal endothelial dystrophy, FECD2 | 610158 | autosomal dominant |
| Corneal Dystrophy, Fuchs Endothelial, Late Onset 2 | TCF4 | FCD2 locus, FECD3 | 613267 | autosomal dominant |
| Corneal Dystrophy, Gelatinous Drop-like | M1S1 (TACSTD2) | GDLD, CDGDL, corneal amyloidosis, lattice corneal dystrophy type III, amyloid corneal dystrophy | 204870 | autosomal recessive |
| Corneal Dystrophy, Granular | TGFBI | Groenouw type I, CDGG1, punctate or nodular corneal dystrophy, granular corneal dystrophy type I, GCD1 | 121900 | autosomal dominant |
| Corneal Dystrophy, Lattice Type I | TGFBI | lattice corneal dystrophy, LCD1, CDL1, LCD, Biber-Haab-Dimmer dystrophy | 122200 | autosomal dominant |
| Corneal Dystrophy, Lattice Type II | GSN | Finnish type amyloidosis, Meretoja type lattice corneal dystrophy, amyloidosis V, GSN lattice dystrophy, gelsolin amyloidosis | 105120 | autosomal dominant |
| Corneal Dystrophy, Lisch Epithelial | None identified | Lisch epithelial corneal dystrophy, whorled microcystic dystrophy, LECD | 300778 | X-linked dominant |
| Corneal Dystrophy, Macular | CHST6 | MCDC1, Groenouw type II corneal dystrophy, Fehr corneal dystrophy | 217800 | autosomal recessive |
| Corneal Dystrophy, Meesmann | KRT3, KRT12 | Meesmann corneal dystrophy, MECD, juvenile hereditary corneal dystrophy | 122100 | autosomal dominant |
| Corneal Dystrophy, Posterior Amorphous | 12q21.33 deletion | PACD, posterior amorphous corneal dystrophy, posterior amorphous stromal dystrophy | 612868 | autosomal dominant |
| Corneal Dystrophy, Posterior Polymorphous 1 | OVOL2 | posterior polymorphous corneal dystrophy 1, PPCD1, Maumenee corneal dystrophy | 122000 | autosomal dominant |
| Corneal Dystrophy, Posterior Polymorphous 2 | COL8A2 | PPCD2 | 609140 | autosomal dominant |
| Corneal Dystrophy, Posterior Polymorphous 3 | ZEB1 | PPCD3 | 609141 | autosomal dominant |
| Corneal Dystrophy, Posterior Polymorphous 4 | GRHL2 | PPCD4 | 618031 | autosomal dominant |
| Corneal Dystrophy, Recurrent Epithelial Erosions | ? | ERED, recurring corneal erosions, hereditary corneal erosions, epithelial recurrent erosion dystrophy, Franceschetti hereditary recurrent corneal erosion | 122400 | autosomal dominant |
| Corneal Dystrophy, Reis-Bücklers | TGFBI | RBCD, corneal dystrophy of Bowman layer type I, superficial granular corneal dystrophy, GCD type III, geographic corneal dystrophy, CDB type I, Reis-Bücklers corneal dystrophy | 608470 | autosomal dominant |
| Corneal Dystrophy, Schnyder | UBIAD1 | Schnyder crystalline corneal dystrophy, SCD, Schnyder corneal dystrophy, crystalline stromal dystrophy | 121800 | autosomal dominant |