congenital stationary night blindness autosomal dominant 1

Summary

DOID:0110862 - congenital stationary night blindness autosomal dominant 1

Disease Ontology Definition:A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1.

Synonyms: CSNBAD1, rhodopsin-related 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

: rho, rho.2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012498 - serosa of appendix

MONDO:0012498 - serosa of appendix

MIM:

MIM:610445 - NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1; CSNBAD1

MIM:610445 - NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1; CSNBAD1

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)