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ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF

MedGen UID:: 320510
•Concept ID:: C1835054
•: Finding

Synonym:	OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF

OMIM®:	155555

Recent clinical studies

Etiology

MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

King RA, Willaert RK, Schmidt RM, Pietsch J, Savage S, Brott MJ, Fryer JP, Summers CG, Oetting WS
Am J Hum Genet 2003 Sep;73(3):638-45. Epub 2003 Jul 22 doi: 10.1086/377569. PMID: 12876664 Free PMC Article

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ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF
ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF

MedGen
C1835054[conceptid] (1)
MedGen
"ALAD*1/ALAD*2 POLYMORPHISM"[Disease/phenotype] AND "OMIM"[submit... (1)
"ALAD*1/ALAD*2 POLYMORPHISM"[Disease/phenotype] AND "OMIM"[submitter]
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ClinVar
C1837530[trait identifier] AND "OMIM"[submitter] (4)
ClinVar
C3808620[trait identifier] AND "OMIM"[submitter] (5)
ClinVar

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