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Oculocutaneous albinism type 2 MeSH Supplementary Concept Data 2025


MeSH Supplementary
Oculocutaneous albinism type 2
Unique ID
C537730
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537730
Entry Term(s)
Albinism 2
Albinism II
Albinism, Oculocutaneous, Type II
Albinism, oculocutaneous, type 2
Albinoidism
OCA2
Oculocutaneous Albinism, Type II
Oculocutaneous Albinism, Tyrosinase-Positive
Oculocutaneous albinism tyrosinase positive
Tyrosinase-positive oculocutaneous albinism
Registry Numbers
0
Heading Mapped to
*Albinism, Oculocutaneous
Frequency
54
Note
An autosomal recessive, tyrosinase positive type of oculocutaneous albinism where MELANIN biosynthesis is reduced in the skin. Infants appear phenotypically similar to OCA1 (OMIM: 203100) but acquire small amounts of pigment with age. Affected individuals also have other similar, though less severe, phenotypes to OCA1. Mutations in the OCA2 gene have been identified. OMIM: 203200
Date of Entry
2010/08/25
Revision Date
2015/08/18
Oculocutaneous albinism type 2 Preferred
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