Metadata | |
---|---|
ID | DOID:0061107 |
Name | retinitis pigmentosa 92 |
Definition | A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that has_material_basis_in homozygous mutation in the HKDC1 gene on chromosome 10q22. https://pubmed.ncbi.nlm.nih.gov/30085091/ |
Xrefs | |
SKOS |
exactMatch MIM:619614 |
Synonyms |
RP92 [EXACT] |
Parent Relationships |
is_a retinitis pigmentosa |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |