| Metadata | |
|---|---|
| ID | DOID:0110404 |
| Name | retinitis pigmentosa 17 |
| Definition | A retinitis pigmentosa characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression that has_material_basis_in duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1. https://pubmed.ncbi.nlm.nih.gov/33022222/ |
| Xrefs | |
| Synonyms |
RP17 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a retinitis pigmentosa |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |