| Metadata | |
|---|---|
| ID | DOID:0061110 |
| Name | retinitis pigmentosa 97 |
| Definition | A retinitis pigmentosa characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity that has_material_basis_in heterozygous mutation in the VWA8 gene on chromosome 13q14. https://pubmed.ncbi.nlm.nih.gov/37012052/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620422 |
| Synonyms |
RP97 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a retinitis pigmentosa |
| Subclass Logical Relationships |
has material basis in some Pediatric onset has material basis in some autosomal dominant inheritance |