Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Fabry Disease | GLA | alpha-galactosidase A deficiency, GLA deficiency, ceramide trihexosidase deficiency, angiokeratoma corporis diffusum, hereditary dystopic lipodosis, Anderson-Fabry disease | 301500 | X-linked dominant |
| Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction | TUBB6 | FPVEPD | 617732 | autosomal dominant |
| Familial Acorea, Microphthalmia and Cataract Syndrome | ? | autosomal dominant | ||
| Familial Exudative Vitreoretinopathy, EVR1 | FZD4 | FEVR, Criswick-Schepens syndrome, exudative vitreoretinopathy, EVR1 | 133780 | autosomal dominant |
| Familial Exudative Vitreoretinopathy, EVR2 | NDP | FEVRX, X-linked FEVR, EVR2 | 305390 | X-linked recessive |
| Familial Exudative Vitreoretinopathy, EVR3 | ? | EVR3 | 605750 | autosomal dominant |
| Familial Exudative Vitreoretinopathy, EVR4 | LRP5 | FEVR, Criswick-Schepens syndrome, exudative vitreoretinopathy, EVR4 | 601813 | autosomal dominant |
| Familial Exudative Vitreoretinopathy, EVR5 | TSPAN12 | EVR5 | 613330 | autosomal recessive, autosomal dominant |
| Familial Exudative Vitreoretinopathy, EVR6 | ZNF408 | EVR6, FEVR6 | 616468 | autosomal dominant |
| Familial Exudative Vitreoretinopathy, EVR7 | CTNNB1 | EVR7, FEVR7 | 617572 | autosomal dominant |
| Familial Internal Retinal Membrane Dystrophy | ? | dominantly inherited Muller cell sheen dystrophy, Muller cell sheen dystrophy | autosomal dominant | |
| Feingold Syndrome 1 | MYCN | FGLDS1, ODED syndrome, oculodigitoesophagoduodenal syndrome, MMT syndrome, FS1 | 164280 | autosomal dominant |
| Fibrosis of Extraocular Muscles with Synergistic Divergence | ? | congenital fibrosis syndrome with synergistic divergence, external ophthalmoplegia with synergistic divergence | 609612 | autosomal dominant |
| Fibrosis of Extraocular Muscles, CFEOM1 | KIF21A | congenital ophthalmoplegia, restrictive strabismus, absence of eye movements with blepharoptosis, CFEOM1, CFEOM3B | 135700 | autosomal dominant |
| Fibrosis of Extraocular Muscles, CFEOM2 | PHOX2A | congenital ophthalmoplegia, restrictive strabismus, CFEOM2 | 602078 | autosomal recessive |
| Fibrosis of Extraocular Muscles, CFEOM3C | chromosomal | congenital fibrosis of extraocular muscles 3C | 609384 | autosomal dominant |
| Fibrosis of Extraocular Muscles, CFEOM5 | COL25A1 | CFEOM5, congenital cranial dysinnervation disorder | 616219 | autosomal recessive |
| Fibrosis of Extraocular Muscles, Tukel CFEOM Syndrome | 21qter locus | Tukel CFEOM | 609428 | autosomal recessive? |
| Filippi Syndrome | CKAP2L | FLPIS, Scott craniodigital syndrome with mental retardation, type I syndactyly with microcephaly and mental retardation | 272440 | autosomal recessive |
| Fleck Retina of Kandori | ? | 228990 | ? | |
| Fleck Retina, Benign Familial | PLA2G5 | FRFB | 228980 | autosomal recessive |
| Flecked Retina Syndromes | RDS, RDH5, RLBP1 | 136880, 228980, 248200, 228900, 210370, 259900 | autosomal recessive, autosomal dominant | |
| Focal Dermal Hypoplasia | PORCN | FDH, DHOF, Goltz syndrome, Goltz-Gorlin syndrome | 305600 | X-linked dominant |
| Foveal Hypoplasia 1 | PAX6, SLC38A8 | O'Donnell-Pappas syndrome, FVH1 | 136520 | autosomal dominant |
| Foveal Hypoplasia 2 | SLC38A8 | FVH2, foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis | 609218 | autosomal recessive |
| Foveal Hypoplasia and Anterior Chamber Dysgenesis | 16q23.2-24.2 locus | foveal hypoplasia and anterior segment dysgenesis, FHASD | 609218 | autosomal recessive? |
| Fraser Syndrome 1 | FRAS1 | cryptophthalmos-syndactyly syndrome, FRASRS1 | 219000 | autosomal recessive |
| Fraser Syndrome 2 | FREM2 | FRASRS2 | 617666 | autosomal recessive |
| Fraser Syndrome 3 | GRIP1 | FRASRS3 | 617667 | autosomal recessive |
| Friedreich Ataxia 1 | FXN | FRDA, FRDA1, FA | 229300 | autosomal recessive |
| Fructose Intolerance | ALDOB | fructosemia, aldolase deficiency, hereditary fructose intolerance | 229600 | autosomal recessive |
| Fucosidosis | FUCA1 | alpha-L-fucosidase deficiency | 230000 | autosomal recessive |
| Fundus Albipunctatus | RDH5, RLBP1, PRPH2 | retinitis punctata albescens | 136880 | autosomal recessive, autosomal dominant |