Metadata | |
---|---|
ID | DOID:0061108 |
Name | retinitis pigmentosa 79 |
Definition | A retinitis pigmentosa that has_material_basis_in heterozygous mutation in the HK1 gene on chromosome 10q22. https://pubmed.ncbi.nlm.nih.gov/25190649/ |
Xrefs | |
SKOS |
exactMatch MIM:617460 |
Synonyms |
RP79 [EXACT] |
Parent Relationships |
is_a autosomal dominant disease is_a retinitis pigmentosa |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |