congenital stationary night blindness autosomal dominant 2

Summary

DOID:0110863 - congenital stationary night blindness autosomal dominant 2

Disease Ontology Definition:A congenital stationary night blindness characterized by autosomal dominant inhertance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16.

Synonyms: CSNBAD2, Rambusch type congenital stationary night blindness,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

OMIM:

MIM:163500 - night blindness, congenital stationary, autosomal dominant 2; csnbad2

MIM:163500 - night blindness, congenital stationary, autosomal dominant 2; csnbad2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), congenital stationary night blindness (is_a)