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oculocutaneous albinism type 3

^ http://purl.obolibrary.org/obo/MONDO_0008747

Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population. [ Orphanet:79433 ]

Term info

database cross reference
  • DOID:0070097 (MONDO:equivalentTo)
  • MESH:C537731 (Orphanet:79433/e)
  • OMIM:278400 (MONDO:equivalentObsolete)
  • SCTID:63450009 (MONDO:equivalentTo)
  • OMIM:203290 (Orphanet:79433/e)
  • GARD:0009641 (MONDO:equivalentTo)
  • Orphanet:79433 (OMIM:203290)
  • ICD9:270.2 (MONDO:relatedTo)
  • GARD:0004039 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
ROCA [ GARD:0009641 ]

abbreviation
OCA3 [ DOID:0070097 Orphanet:79433 OMIM:203290 MONDO:Lexical ]

definition

Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.

exactMatch

https://omim.org/entry/203290, http://purl.obolibrary.org/obo/Orphanet_79433, http://identifiers.org/snomedct/63450009, http://identifiers.org/mesh/C537731, http://purl.obolibrary.org/obo/DOID_0070097

has exact synonym

rufous oculocutaneous albinism, oculocutaneous albinism caused by mutation in TYRP1, Red oculocutaneous albinism, OCA3, TYRP1 oculocutaneous albinism, xanthous oculocutaneous albinism, oculocutaneous albinism type 3

has related synonym

rufous OCA, oculocutaneous albinism, type 3, Xanthism, oculocutaneous albinism type III, albinism, oculocutaneous, type 3, albinism 3, albinism, oculocutaneous, type III, ROCA

id

MONDO:0008747

Term relations