Drug Target Ontology

Last uploaded: February 15, 2018
Preferred Name

congenital stationary night blindness
Synonyms
Definitions

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

ID

http://purl.obolibrary.org/obo/DOID_0050534

comment

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

definition

A 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.

hasDbXref

SNOMEDCT_US_2016_03_01:193688005

ORDO:215

MESH:C537743

SNOMEDCT_US_2016_03_01:193689002

OMIM:PS310500

SNOMEDCT_US_2016_03_01:193687000

ICD10CM:H53.63

UMLS_CUI:C1306122

SNOMEDCT_US_2016_03_01:89208008

ICD9CM:368.61

hasExactSynonym

congenital essential nyctalopia

hasOBONamespace

disease_ontology

id

DOID:0050534

imported from

http://purl.obolibrary.org/obo/doid.owl

inSubset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

congenital stationary night blindness

prefixIRI

DOID:0050534

prefLabel

congenital stationary night blindness

subClassOf

http://purl.obolibrary.org/obo/DOID_8499

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