| Metadata | |
|---|---|
| ID | DOID:0112145 |
| Name | retinitis pigmentosa 88 |
| Definition | A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in the RP1L1 gene on chromosome 8p23.1. https://pubmed.ncbi.nlm.nih.gov/30025130/, https://pubmed.ncbi.nlm.nih.gov/31236346/, https://pubmed.ncbi.nlm.nih.gov/31833436/ |
| Xrefs | |
| Synonyms |
RP88 [EXACT] |
| Parent Relationships |
is_a retinitis pigmentosa |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |