| Metadata | |
|---|---|
| ID | DOID:0112144 |
| Name | retinitis pigmentosa 87 |
| Definition | A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in the RPE65 gene on chromosome 1p31.3. https://pubmed.ncbi.nlm.nih.gov/27307694/, https://pubmed.ncbi.nlm.nih.gov/30628748/ |
| Xrefs | |
| Synonyms |
retinitis pigmentosa 87 with choroidal involvement [EXACT] RP87 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a retinitis pigmentosa |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |