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oculocutaneous albinism type 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0018135

Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). [ Orphanet:352731 ]

Synonyms: OCA1 oculocutaneous albinism type 1

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:765146000 (MONDO:equivalentTo)
  • Orphanet:352731 (MONDO:equivalentTo)
  • UMLS:C0268494 (Orphanet:352731)
  • MESH:C537728 (MONDO:equivalentTo)
  • GARD:4037 (Orphanet:352731)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

exactMatch

http://www.orpha.net/ORDO/Orphanet_352731

http://identifiers.org/mesh/C537728

http://linkedlifedata.com/resource/umls/id/C0268494

http://identifiers.org/snomedct/765146000

has related synonym

oculocutaneous albinism, tyrosinase negative

ATN

id

MONDO:0018135

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0018135