Retinitis Pigmentosa 84
Disease ID: disease_node_15800
Connections displayed (default: 10).
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| Dbxref | MIM:618220 |
|---|---|
| Subclassof | DOID_10584, DOID_0050737 |
| Data Source | DOID |
| Synonyms | RP84 |
| Doid Label | retinitis pigmentosa 84 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15800 |
| Doid Id | DOID_0112141 |
| Label | Retinitis Pigmentosa 84 |
- Outgoing r'ship
SUBCLASS_OFto/from Retinitis Pigmentosa(ID:disease_node_6614) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)