Visualize Submit Comment

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	MIM:618826
Synonyms	RP88 [EXACT]
Parent Relationships	is_a retinitis pigmentosa is_a autosomal recessive disease