| Metadata | |
|---|---|
| ID | DOID:0051095 |
| PURL | http://purl.obolibrary.org/obo/DOID_0051095 Copy |
| Name | retinitis pigmentosa 104 |
| Definition | A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-2 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/41513982/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant disease is_a retinitis pigmentosa |
| Subclass Logical Relationships |
existence starts during some Young adult onset has material basis in some autosomal dominant inheritance |