FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term oculocutaneous albinism type II ID (Ontology) DOID:0070096 (Human Disease)
Definition An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13.
Also Known As "OCA2" ; "Oculocutaneous Albinism, Tyrosinase-Positive"
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 Genes
 oculocutaneous albinism type II       5
 for disease ribbon | oculocutaneous albinism type II       5
 model of | oculocutaneous albinism type II       5
Spanning Tree (Parents/Children)
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autosomal recessive disease__
syndrome_____________________|
                             oculocutaneous albinism
                              |__oculocutaneous albinism type II  5 rec.
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Is a oculocutaneous albinism
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Synonyms
  • "OCA2" EXACT OMO:0003012
    "Oculocutaneous Albinism, Tyrosinase-Positive" EXACT
Secondary IDs
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GARD:4038
MESH:C537730
MIM:203200