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oculocutaneous albinism type 2

^ http://purl.obolibrary.org/obo/MONDO_0008746

Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm. [ Orphanet:79432 ]

Term info

database cross reference
  • UMLS:C0268495 (Orphanet:79432/e)
  • MESH:C537730 (Orphanet:79432/e)
  • DOID:0070096 (MONDO:equivalentTo)
  • Orphanet:79432 (OMIM:203200)
  • OMIM:203200 (Orphanet:79432/e)
  • GARD:0004038 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
OCA2 [ OMIM:203200 DOID:0070096 MONDO:Lexical Orphanet:79432 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

definition

Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0268495, http://identifiers.org/mesh/C537730, http://purl.obolibrary.org/obo/DOID_0070096, http://purl.obolibrary.org/obo/Orphanet_79432, https://omim.org/entry/203200

has exact synonym

OCA2, oculocutaneous albinism type 2, oculocutaneous albinism, tyrosinase-positive, albinism, oculocutaneous, type II, modifier of

has related synonym

oculocutaneous albinism tyrosinase positive, albinism, oculocutaneous, type II, Brown oculocutaneous albinism, oculocutaneous albinism, type 2, albinism, Brown oculocutaneous, tyrosinase-positive oculocutaneous albinism, oculocutaneous albinism type II, albinism, oculocutaneous, type 2, Albinoidism, albinism 2

id

MONDO:0008746

seeAlso

https://rarediseases.info.nih.gov/diseases/4038/oculocutaneous-albinism-type-2

Term relations