Visualize Submit Comment

Metadata
ID	DOID:0061112
Name	retinitis pigmentosa 95
Definition	A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/30377383/
Xrefs	MIM:620102
SKOS	exactMatch MIM:620102
Synonyms	RP95 [EXACT]
Parent Relationships	is_a retinitis pigmentosa is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance