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Brown oculocutaneous albinism(BOCA)

MedGen UID:: 75689
•Concept ID:: C0268497
•: Congenital Abnormality

Synonyms:	BOCA; Brown OCA
SNOMED CT:	Brown oculocutaneous albinism (11160000); Brown albinism (11160000)

OMIM®:	203200; 611409

Recent clinical studies

Etiology

Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.

Kerr R, Stevens G, Manga P, Salm S, John P, Haw T, Ramsay M
Hum Mutat 2000;15(2):166-72. doi: 10.1002/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.0.CO;2-Z. PMID: 10649493

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Brown oculocutaneous albinism
Brown oculocutaneous albinism

MedGen
C0268497[conceptid] (1)
MedGen
C1857941[trait identifier] AND "OMIM"[submitter] (5)
ClinVar
C2751324[trait identifier] AND "OMIM"[submitter] (3)
ClinVar
C2751666[trait identifier] AND "OMIM"[submitter] (6)
ClinVar

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