Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| 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 |
| 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 |
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Ectopia Lentis et Pupillae | ADAMTSL4 | 225200 | autosomal recessive | |
| Ectopia lentis, Isolated AD | FBN1 | 129600 | autosomal dominant | |
| Ectopia lentis, Isolated AR | ADAMTSL4 | 225100 | autosomal recessive | |
| EDICT Syndrome | MIR184 | KTCNCT, keratoconus with cataract, familial keratoconus with early-onset anterior polar cataract, endothelial dystrophy iris hypoplasia congenital cataract and stromal thinning syndrome | 614303 | autosomal dominant |
| EEM Syndrome | CDH3 | ectodermal dysplasia, ectrodactyly and macular dystrophy | 225280 | autosomal recessive |
| Ehlers-Danlos Syndrome, Type VIA | PLOD1 | oculoscoliotic type Ehlers-Danlos syndrome, EDS VIA, EDS6A | 225400 | autosomal recessive |
| Elsahy-Waters Syndrome | CDH11 | ESWS, brachioskeletogenital syndrome, BSG syndrome | 211380 | autosomal recessive |
| Encephalocraniocutaneous Lipomatosis | FGFR1 | ECCL | 613001 | autosomal dominant? |
| Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 | MFF | EMPF2 | 617086 | autosomal recessive |
| Encephalopathy, Early-Onset, With Brain Atrophy and Thin Corpus Callosum | TBCD | PEBAT | 617193 | autosomal recessive |
| Encephalopathy, Progressive, Early-Onset, wtih Brain Atrophy and Spasticity | TRAPPC12 | PABAS | 617669 | autosomal recessive |
| Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy | TBCE | PEAMO | 617207 | autosomal recessive |
| Epileptic Encephalopathy, Early Infantile 28 | WWOX | EIEE28 | 616211 | autosomal recessive |
| Epileptic Encephalopathy, Early Infantile 47 | FGF12 | EIEE47 | 617166 | autosomal dominant? |
| Epileptic Encephalopathy, Early Infantile 48 | AP3B2 | EIEE48 | 617276 | autosomal recessive |
| Epileptic Encephalopathy, Early Infantile 58 | NTRK2 | EIEE58 | 617830 | autosomal dominant |
| Epileptic Encephalopathy, Infantile or Early Childhood 2 | GABRB2 | IECEE2 | 617829 | autosomal dominant |
| Exfoliation Glaucoma | LOXL1 | exfoliation syndrome, XFG, PEX, pseudoexfoliation syndrome, XFS | 177650 | autosomal dominant? |
| External Ophthalmoplegia, ANT1 and mtDNA Mutations | mitochondria, SLC25A4 | PEOA2, autosomal dominant progressive external ophthalmoplegia | 609283 | autosomal dominant |
| External Ophthalmoplegia, C10ORF2 and mtDNA Mutations | mitochondria, C10ORF2 | PEOA3 | 609286 | autosomal dominant |
| External Ophthalmoplegia, Facial Weakness, and Malignant Hyperthermia | RYR1 | MHS1, susceptibility to malignant hyperthermia 1, King syndrome, King-Denborough syndrome | 145600 | autosomal recessive, autosomal dominant |