Term Name: congenital stationary night blindness 1H
Synonyms: congenital stationary night blindness type 1H, CSNB1H
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.
Ontology: Human Disease [DOID:0110866]   ( DOID:0110866 )

Relationships
is a type of: autosomal recessive disease congenital stationary night blindness