| Metadata | |
|---|---|
| ID | DOID:0051093 |
| PURL | http://purl.obolibrary.org/obo/DOID_0051093 Copy |
| Name | retinitis pigmentosa 102 |
| Definition | A retinitis pigmentosa that is charaterized by onset of night blindness and loss of peripheral vision in adolescence, and eventual reduction in visual acuity with progression of disease and that has_material_basis_in heterozygous mutation in the RNU4-2 gene on chromosome 12q24. 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 |