| Metadata | |
|---|---|
| ID | DOID:0061106 |
| Name | retinitis pigmentosa 91 |
| Definition | A retinitis pigmentosa characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy that has_material_basis_in heterozygous mutation in the IMPG1 gene on chromosome 6q14. https://pubmed.ncbi.nlm.nih.gov/32817297/ |
| Xrefs | |
| SKOS |
exactMatch MIM:153870 |
| Synonyms |
RP91 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a retinitis pigmentosa |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |