oculocutaneous albinism type III

Summary
Synonym
  • OCA3
  • Rufous Oculocutaneous Albinism
Definition
An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23.
Super Class
oculocutaneous albinism
External Links
Disease Ontology
DOID:0070097
Mondo Disease Ontology
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7306 TYRP1 tyrosinase related protein 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
22178 Tyrp1 tyrosinase-related protein 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
176105 tyr-1 Putative tyrosinase-like protein tyr-1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024