Terminology Service for NFDI4Health

congenital stationary night blindness

Go to external page http://purl.obolibrary.org/obo/DOID_0050534


A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. [ http://purl.obolibrary.org/obo/ECO_0007646 http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

congenital stationary night blindness

Synonyms
  • congenital essential nyctalopia
database cross reference
Subsets

DO_rare_slim

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050534

Term relations