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Summary Literature (0)
DOID:0111541 - pigmented paravenous chorioretinal atrophy

Disease Ontology Definition:An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3.

Synonyms: PPRCA

Xenbase Genes : crb1



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), eye disease (is_a)