MeSH Browser

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 Number: 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

Concept UI: M0532191
Registry Number: 0
Terms: Oculocutaneous albinism type 2 Preferred Term
Term UI T743569
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Albinism 2
Term UI T743572
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Albinism, oculocutaneous, type 2
Term UI T743573
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Albinoidism
Term UI T743574
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Albinism, Oculocutaneous, Type II
Term UI T824886
Date06/25/2012
LexicalTag NON
ThesaurusID OMIM (2013); Oculocutaneous Albinism, Tyrosinase-Positive
Term UI T801220
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Oculocutaneous Albinism, Type II
Term UI T824883
Date06/25/2012
LexicalTag NON
ThesaurusID OMIM (2013); OCA2
Term UI T824884
Date06/25/2012
LexicalTag NON
ThesaurusID OMIM (2013); Albinism II
Term UI T824885
Date06/25/2012
LexicalTag NON
ThesaurusID OMIM (2013); Oculocutaneous albinism tyrosinase positive
Term UI T743571
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Tyrosinase-positive oculocutaneous albinism
Term UI T743575
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010)

Oculocutaneous albinism type 2 MeSH Supplementary Concept Data 2023