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Metadata
ID DOID:0070096
Name oculocutaneous albinism type II
Definition An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13.
https://www.ncbi.nlm.nih.gov/pubmed/18680187
Xrefs

GARD:4038

MESH:C537730

OMIM:203200

Subsets

DO_rare_slim

Synonyms

OCA2 [EXACT]

Oculocutaneous Albinism, Tyrosinase-Positive [EXACT]

Parent Relationships

is_a oculocutaneous albinism

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