JSON

oculocutaneous albinism type 1

^ 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 ]

Term info

database cross reference
  • SCTID:765146000 (MONDO:equivalentTo)
  • Orphanet:352731 (MONDO:equivalentTo)
  • UMLS:CN119529 (MONDO:equivalentTo)
  • MESH:C537728 (MONDO:equivalentTo)
  • GARD:0004037 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
ATN [ GARD:0004037 ]

abbreviation
OCA1 [ Orphanet:352731 ]

IAO 0000233

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

definition

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).

exactMatch

http://identifiers.org/mesh/C537728, http://linkedlifedata.com/resource/umls/id/CN119529, http://identifiers.org/snomedct/765146000, http://purl.obolibrary.org/obo/Orphanet_352731

has exact synonym

OCA1, oculocutaneous albinism type 1

has related synonym

oculocutaneous albinism, tyrosinase negative, ATN

id

MONDO:0018135