| Metadata | |
|---|---|
| ID | DOID:0061298 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061298 Copy |
| Name | retinitis pigmentosa 100 |
| Definition | A retinitis pigmentosa characterized by the onset of night blindness in childhood or young adulthood, followed by progressive visual field constriction and that has_material_basis_in compound heterozygous mutation in the TBC1D32 gene on chromosome 6q22. https://pubmed.ncbi.nlm.nih.gov/37768732/ |
| Xrefs | |
| Parent Relationships |
is_a retinitis pigmentosa |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |