Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Gabriele-de Vries Syndrome | YY1 | GADEVS | 617557 | autosomal dominant |
| Galactokinase Deficiency | GALK1 | GALK deficiency, galactosemia II | 230200 | autosomal recessive |
| Galactose Epimerase Deficiency | GALE | GALE deficiency, galactosemia III | 230350 | autosomal recessive |
| Galactosemia | GALT | classic galactosemia, galactosemia I, GALT deficiency | 230400 | autosomal recessive |
| Galloway-Mowat Syndrome | WDR73 | GAMOS, microcephaly hiatal hernia and nephrotic syndrome, Galloway syndrome, nephrosis-neuronal dysmigration syndrome, nephrosis-microcephaly syndrome | 251300 | autosomal recessive |
| GAPO Syndrome | ANTXR1 | growth retardation, alopecia, pseudoanodontia, and optic atrophy syndrome | 230740 | autosomal recessive |
| Gaucher Disease | GBA | GBA deficiency, glucocerebrosidase deficiency | 230800230900231000 | autosomal recessive |
| Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1 | ROBO3 | HGPPS1, horizontal gaze palsy with progressive scoliosis 1 | 607313 | autosomal recessive |
| Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 2 | DCC | HGPPS2 | 617542 | autosomal recessive |
| Gillespie Syndrome | PAX6, ITPR1 | aniridia cerebellar ataxia and mental retardation syndrome, hypotonia, tremor | 206700 | autosomal dominant |
| Glaucoma, Congenital Primary A | CYP1B1 | GLC3, GLC3A, congenital glaucoma, infantile glaucoma | 231300 | autosomal recessive |
| Glaucoma, Congenital Primary B | GLC3B | infantile glaucoma, GLC3B, primary infantile glaucoma, GLC3 type B | 600975 | autosomal recessive |
| Glaucoma, Congenital Primary C | q24.3 locus | GLC3C, primary congenital glaucoma C, primary congenital glaucoma 3 | 613085 | autosomal recessive? |
| Glaucoma, Congenital Primary D | LTBP2 | congenital glaucoma plus | 613086 | autosomal recessive |
| Glaucoma, Congenital Primary E | TEK | GLC3E | 617272 | autosomal dominant |
| Glaucoma, Open Angle, Juvenile | MYOC | glaucoma 1, GLAC1A, juvenile open angle glaucoma, JOAG1 | 137750 | autosomal dominant |
| Glaucoma, Open Angle, Primary | MYOC | chronic simple glaucoma, CSG, open angle glaucoma, OAG, POAG | 137760 | ? |
| Glaucoma, Pigment Dispersion Syndrome | 7q35-q36 locus | GPDS1, pigment-dispersion syndrome, PDS, cataracts | 600510 | autosomal dominant |
| GM1 Gangliosidosis | GLB1 | generalized gangliosidosis type I, GLB1 deficiency, beta-galactosidase-1 deficiency | 230500 | autosomal recessive |
| GM3 Synthase Deficiency | SIAT9 | Amish infantile epilepsy syndrome, SPDRS, salt and pepper mental retardation syndrome | 609056 | autosomal recessive |
| Goldenhar Syndrome Spectrum | 14q32 locus | hemifacial microsomia, Goldenhar syndrome, oculoauriculovertebral spectrum, OAVS, OAV dysplasia, oculoauriculovertebral dysplasia, pretragal fistulas | 164210 | autosomal dominant? |
| Goldmann-Favre Syndrome/ESCS | NR2E3 | ESCS, GFS, retinoschisis with early hemeralopia, Favre hyaloidoretinal degeneration, enhanced S-cone syndrome | 268100 | autosomal recessive |
| Gorlin-Chaudhry-Moss Syndrome | ? | GCM syndrome | 233500 | autosomal recessive? |
| Gracile Bone Dysplasia | FAM111A | GCLEB, osteocraniosplenic syndrome, osteocraniostenosis, habrodysplasia | 602361 | autosomal dominant |
| Gurrieri Syndrome | ? | 601187 | autosomal recessive? | |
| Gyrate Atrophy | OAT | ornithine aminotransferase deficiency, gyrate atrophy of choroid and retina, OAT | 258870 | autosomal recessive |