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oculocutaneous albinism type 6

^ http://purl.obolibrary.org/obo/MONDO_0018264

A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. [ Orphanet:370097 ]

Term info

database cross reference
  • SCTID:722058005 (MONDO:equivalentTo)
  • UMLS:C3805375 (OMIM:113750)
  • OMIM:113750 (Orphanet:370097/ntbt)
  • DOID:0080614 (MONDO:equivalentTo)
  • Orphanet:370097 (OMIM:113750)
Subsets

ordo_disease

abbreviation
OCA6 [ Orphanet:370097 OMIM:113750 ]

IAO 0000233

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

definition

A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.

exactMatch

https://omim.org/entry/113750, http://purl.obolibrary.org/obo/Orphanet_370097, http://purl.obolibrary.org/obo/DOID_0080614, http://linkedlifedata.com/resource/umls/id/C3805375, http://identifiers.org/snomedct/722058005

has related synonym

skin/hair/eye pigmentation 4, fair/dark skin, albinism, oculocutaneous, type VI

id

MONDO:0018264

Term relations