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 inheritance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16.

Synonyms: CSNBAD2, Rambusch type congenital stationary night blindness

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

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

: pde6b

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008099 - congenital stationary night blindness autosomal dominant 2

MONDO:0008099 - congenital stationary night blindness autosomal dominant 2

MIM:

MIM:163500 - NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2

MIM:163500 - NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2

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), congenital stationary night blindness (is_a)