congenital stationary night blindness 1H

Summary

DOID:0110866 - congenital stationary night blindness 1H

Disease Ontology Definition:A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13.

Synonyms: congenital stationary night blindness type 1H, CSNB1H

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

: gnb3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014872 - distal epiphysis of distal phalanx of pedal digit 2

MONDO:0014872 - distal epiphysis of distal phalanx of pedal digit 2

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

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

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