Experimental Factor Ontology

Last uploaded: September 16, 2024
Preferred Name

congenital stationary night blindness
Synonyms

night blindness, congenital stationary

congenital essential nyctalopia

ID

http://purl.obolibrary.org/obo/MONDO_0016293

database_cross_reference

UMLS:C0339535

Orphanet:215

SCTID:232061009

DOID:0050534

MESH:C536122

MEDGEN:83289

ICD9:368.61

SCTID:193687000

OMIMPS:310500

exactMatch

https://omim.org/phenotypicSeries/PS310500

http://identifiers.org/mesh/C536122

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

http://identifiers.org/snomedct/232061009

http://www.orpha.net/ORDO/Orphanet_215

http://identifiers.org/medgen/83289

http://linkedlifedata.com/resource/umls/id/C0339535

has_exact_synonym

night blindness, congenital stationary

congenital essential nyctalopia

id

MONDO:0016293

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disorder

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare

label

congenital stationary night blindness

notation

MONDO:0016293

preferred label

congenital stationary night blindness

prefLabel

congenital stationary night blindness

subClassOf

http://purl.obolibrary.org/obo/MONDO_0004587

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