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oculocutaneous albinism type 2

Go to external page 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 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0268495 (Orphanet:79432/e)
  • GARD:4038 (Orphanet:79432)
  • OMIM:203200 (Orphanet:79432/e)
  • Orphanet:79432 (OMIM:203200)
  • MESH:C537730 (Orphanet:79432/e)
  • DOID:0070096 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

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

exactMatch

http://linkedlifedata.com/resource/umls/id/C0268495

http://identifiers.org/mesh/C537730

http://purl.obolibrary.org/obo/DOID_0070096

http://www.orpha.net/ORDO/Orphanet_79432

https://omim.org/entry/203200

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://search.clinicalgenome.org/kb/conditions/MONDO:0008746

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

Term relations