Clinical Disorder Search
Alphabetical List Grouped by Letter
| 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 |
| Hypoparathyroidism, Familial Isolated | PTH, GCMB | FIH, autosomal dominant hypoparathyroidism, autosomal recessive hypoparathyroidism | 146200 | autosomal recessive, autosomal dominant |
| Hypotonia, Infantile, with Psychomotor Retardation | CCDC174 | IHPMR | 616816 | autosomal recessive |
| Hypotonia, Infantile, with Psychomotor Retardation And Characteristic Facies 1 | NALCN | IHPRF1, IHPRF | 615419 | autosomal recessive |
| Hypotonia, Infantile, with Psychomotor Retardation And Characteristic Facies 2 | UNC80 | IHPRF2 | 616801 | autosomal recessive |
| Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 | TBCK | IHPRF3 | 616900 | autosomal recessive |
| Hypotrichosis with Juvenile Macular Degeneration | CDH3 | hypotrichosis with cone-rod dystrophy, HJMD | 601553 | autosomal recessive |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome | SOX18 | HLTRS, glomerulonephritis with sparse hair and telangiectases, telangiectatic membranoproliferative glomerulonephritis | 137940 | autosomal dominant |