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oculocutaneous albinism type 1A

^ http://purl.obolibrary.org/obo/MONDO_0008745

Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves. [ Orphanet:79431 ]

Term info

database cross reference
  • Orphanet:79431 (OMIM:203100)
  • NCIT:C168731 (MONDO:equivalentTo)
  • DOID:0070094 (MONDO:equivalentTo)
  • OMIM:203100 (Orphanet:79431/e)
  • SCTID:6483008 (MONDO:equivalentTo)
  • ICD9:270.2 (MONDO:relatedTo)
Subsets

ordo_clinical_subtype

abbreviation
OCA1A [ OMIM:203100 Orphanet:79431 DOID:0070094 MONDO:Lexical ]

definition

Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C168731, http://purl.obolibrary.org/obo/DOID_0070094, http://purl.obolibrary.org/obo/Orphanet_79431, http://identifiers.org/snomedct/6483008, https://omim.org/entry/203100

has exact synonym

TYR oculocutaneous albinism, Tyr oculocutaneous albinism, OCA1A, oculocutaneous albinism caused by mutation in Tyr, oculocutaneous albinism caused by mutation in TYR, oculocutaneous albinism, tyrosinase-negative, tyrosinase-negative oculocutaneous albinism

has related synonym

oculocutaneous albinism, type 1, oculocutaneous albinism type IA, albinism, oculocutaneous, type 1A, albinism, oculocutaneous, type IA, albinism 1

id

MONDO:0008745