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MIRAGE
oculocutaneous albinism type II

Summary
Synonym
  • OCA2
  • Oculocutaneous Albinism, Tyrosinase-Positive
Definition
An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13.
Super Class
oculocutaneous albinism
Disease Ontology
DOID:0070096
Mondo Disease Ontology
MeSH
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
4157 MC1R melanocortin 1 receptor
4948 OCA2 OCA2 melanosomal transmembrane protein
Related Glycoprotein
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: February 17, 2025