| 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 |