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retinitis pigmentosa 84
Summary
- Synonym
-
- RP84
- Definition
- A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2.
- Super Class
- autosomal recessive disease retinitis pigmentosa
External Links
- Disease Ontology
- DOID:0112141
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000135 | Hypogonadism |
| HP:0000505 | Visual impairment |
| HP:0000035 | Abnormal testis morphology |
| HP:0000501 | Glaucoma |
| HP:0000405 | Conductive hearing impairment |
| HP:0000563 | Keratoconus |
| HP:0000639 | Nystagmus |
| HP:0000543 | Optic disc pallor |
| HP:0000662 | Nyctalopia |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 138050 | HGSNAT | heparan-alpha-glucosaminide N-acetyltransferase |
| 3419 | IDH3A | isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha |
| 3420 | IDH3B | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta |
| 5158 | PDE6B | phosphodiesterase 6B |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
| 762 | CA4 | carbonic anhydrase 4 |
| 79947 | DHDDS | dehydrodolichyl diphosphate synthase subunit |
