congenital stationary night blindness 1H
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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
congenital stationary night blindness 1H
- CSNB1H
- congenital stationary night blindness type 1H
disease_ontology
DOID:0110866