| Metadata | |
|---|---|
| ID | DOID:0061104 |
| Name | autosomal dominant retinitis pigmentosa 96 |
| Definition | A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade that has_material_basis_in heterozygous mutation in the SAG gene on chromosome 2q37. https://pubmed.ncbi.nlm.nih.gov/28549094/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620228 |
| Synonyms |
RP96 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a retinitis pigmentosa |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |