Metadata | |
---|---|
ID | DOID:0061103 |
Name | retinitis pigmentosa 76 |
Definition | A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34. https://pubmed.ncbi.nlm.nih.gov/27391550/ |
Xrefs | |
SKOS |
exactMatch MIM:617123 |
Synonyms |
RP76 [EXACT] |
Parent Relationships |
is_a retinitis pigmentosa |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |