Terminology Service < Semantic Lookup Platform

congenital stationary night blindness 1E

http://purl.obolibrary.org/obo/DOID_0110869

A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Tree view

Term info

Label

congenital stationary night blindness 1E

Synonyms

CSNB1E
congenital stationary night blindness 1E autosomal recessive

database cross reference

has obo namespace

disease_ontology

DOID:0110869

Term relations

Subclass of:

autosomal recessive disease
congenital stationary night blindness
has material basis in some autosomal recessive inheritance