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Clinical Disorder Search

Terms: night blindness, jaundice, cataracts, etc.
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G
Disorder Name Genes Alternate Names OMIM Inheritance
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
H
Disorder Name Genes Alternate Names OMIM Inheritance
Hallermann-Streiff Syndrome GJA1 HSS, Francois dyscephalic syndrome, oculomandibulofacial syndrome, Hallermann-Streiff-Francois syndrome 234100 autosomal recessive, autosomal dominant
Harboyan Syndrome SLC4A11 CDPD, CDPD1, corneal dystrophy and sensorineural deafness 217400 autosomal recessive
Heart and Brain Malformation Syndrome SMG9 HBMS 616920 autosomal recessive
Heimler Syndrome 1 PEX1 peroxisome biogenesis disorder 1C, PBD1C, HMLR1 234580 autosomal recessive
Heimler Syndrome 2 PEX6 sensorineural hearing loss with enamel hypoplasia and nail defects, peroxisome biogenesis disorder 4C, PBD4C 616617 autosomal recessive?
HELIX Syndrome CLDN10 HELIX, hypohidrosis electrolyte imbalance lacrimal gland dysfunction ichthyosis xerostomia 617671 autosomal recessive
Hereditary Mucoepithelial Dysplasia ? mucoepithelial dysplasia, HMD 158310 autosomal dominant?
Hermansky-Pudlak Syndrome AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, AP3D1, BLOC1S3, HSP8 HPS, delta storage pool disease 617050, 203300, 608233, 606118, 606682, 607521, 607522, 607145, 609762 autosomal recessive
Histiocytic Dermatoarthritis ? 142730 autosomal dominant?
Homocystinuria, Beta-Synthase Deficiency CBS cystathionine beta-synthase deficiency, CBS deficiency, classic homocystinuria 236200 autosomal recessive
Homocystinuria, MTHFR Deficiency MTHFR methylenetetrahydrofolate reductase deficiency, MTHFR deficiency 236250 autosomal recessive
Hoyeraal-Hreidarsson Syndrome DKC1 HHS, cerebellar hypoplasia with pancytopenia, prenatal growth retardation with progressive pancytopenia and cerebellar hypoplasia 305000 X-linked recessive
Hunter Syndrome (MPS II) IDS MPS II, IDS deficiency, Hunter syndrome, iduronate 2-sulfatase deficiency, MPS2 309900 X-linked recessive
Hurler and Scheie Syndromes (MPS IH, IS, IH/S) IDUA MPS1-H, MPS1-S, MPS1-HS, MPS I 607016, 60715, 60714 autosomal recessive
Hyperferritinemia-Cataract Syndrome FTL HHCS, hyperferritinemia with congenital cataracts 600886 autosomal dominant
Hyperoxaluria, Primary, Type I AGXT oxalosis I, glycolic aciduria, HP1, primary hyperoxaluria 259900 autosomal recessive
Hyperphosphatasia with Mental Retardation Syndrome 6 PIGY glycosylphosphatidylinositol biosynthesis defect 12, GPIBD12 616809 autosomal recessive
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