Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Danon Disease | LAMP2 | vacuolar cardiomyopathy and myopathy, Antopol disease, pseudoglycogenosis II | 300257 | X-linked dominant |
| Dermochondrocorneal Dystrophy | ? | Francois syndrome, DCCD | 221800 | ? |
| Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair | DPH1 | DEDSSH, Loucks-Innes Syndrome | 616901 | autosomal recessive |
| Donnai-Barrow Syndrome | LRP2 | DBS/FOAR syndrome, faciooculoacousticorenal syndrome, Holmes-Schepens syndrome | 222448 | autosomal recessive |
| Doyne Honeycomb Macular Dystrophy | EFEMP1 | DHRD, DHD, Doyne Honeycomb Degeneration of the Retina, Malattia Leventinese, MLVT, radial drusen | 126600 | autosomal dominant |
| Duane Retraction Syndrome 1 | 8q13 locus | Stilling-Turk-Duane syndrome, Duane anomaly, DURS1, Duane syndrome, DUS, DRS | 126800 | autosomal dominant |
| Duane Retraction Syndrome 2 | CHN1 | DURS2, Duane retraction syndrome, Stilling-Turk-Duane syndrome, Duane anomaly | 604356 | autosomal dominant |
| Duane Retraction Syndrome 3 | MAFB | DURS3 | 617041 | autosomal dominant |
| Duane-Radial Ray Syndrome | SALL4 | DDRS, Okihiro syndrome, DR syndrome, colobomas, Duane anomaly with radial ray abnormalities and deafness, IVIC syndrome, acrorenoocular syndrome | 607323 | autosomal dominant |
| Dysautonomia, Familial | IKBKAP, DST | HSAN3, HSAN III, DYS, FD, Riley-Day syndrome, hereditary sensory and autonomic neuropathy III | 223900 | autosomal recessive |
| Dyskeratosis Congenita | TERC, TERT, TINF2, NOLA3, NOLA2, WRAP53, DKC1 | DKCX (Zinsser-Cole-Engman), DKCA1 (Scoggins type), DKCA2, DKCA3, DCKB1, DCKB2, DCKB3, DCKB4 | 305000, 127550, 613990, 613989, 224230, 613987, 613988 | autosomal recessive, autosomal dominant, X-linked recessive |
| Dyskeratosis, Hereditary Benign Intraepithelial | NLRP1 | HBID, DKBI | 127600 | autosomal dominant |
| Dystonia, Childhood Onset, With Optic Atrophy | MECR | dystonia 29 childhood onset, DYTOABG | 617282 | autosomal recessive |