| Metadata | |
|---|---|
| ID | DOID:0112141 |
| Name | retinitis pigmentosa 84 |
| 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. https://pubmed.ncbi.nlm.nih.gov/24737827/, https://pubmed.ncbi.nlm.nih.gov/30208423/ |
| Xrefs | |
| Synonyms |
RP84 [EXACT] |
| Parent Relationships |
is_a retinitis pigmentosa |