Terminology Service for NFDI4Health

congenital stationary night blindness 1H

Go to external page http://purl.obolibrary.org/obo/DOID_0110866


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

Label

congenital stationary night blindness 1H

Synonyms
  • CSNB1H
  • congenital stationary night blindness type 1H
database cross reference
has obo namespace

disease_ontology

id

DOID:0110866