Terminology Service for NFDI4Health

congenital stationary night blindness autosomal dominant 2

Go to external page http://purl.obolibrary.org/obo/DOID_0110863


A congenital stationary night blindness characterized by autosomal dominant inhertance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

congenital stationary night blindness autosomal dominant 2

Synonyms
  • CSNBAD2
  • Rambusch type congenital stationary night blindness
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disease_ontology

id

DOID:0110863