| Metadata | |
|---|---|
| ID | DOID:0061299 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061299 Copy |
| Name | retinitis pigmentosa 101 |
| Definition | A retinitis pigmentosa charaterized by macular edema, mild intraretinal pigment migration, and eventual widespread retinal atrophy that has_material_basis_in compound heterozygous or homozygous mutation in the CLN3 gene on chromosome 16p12. https://pubmed.ncbi.nlm.nih.gov/28542676/ |
| Xrefs | |
| Parent Relationships |
is_a retinitis pigmentosa |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |