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 III ID (Ontology) DOID:0070097 (Human Disease)
Definition An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23.
Also Known As "OCA3" ; "Rufous Oculocutaneous Albinism"
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autosomal recessive disease__
syndrome_____________________|
                             oculocutaneous albinism
                              |__oculocutaneous albinism type III
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Synonyms
  • "OCA3" EXACT OMO:0003012
    "Rufous Oculocutaneous Albinism" EXACT
Secondary IDs
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GARD:4039
MIM:203290