FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Waardenburg syndrome type 2C ID (Ontology) DOID:0110951 (Human Disease)
Definition A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23.
Also Known As "Waardenburg syndrome type IIC" ; "WS2C"
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autosomal dominant disease__
syndrome____________________|
                            Waardenburg syndrome
                             |__Waardenburg syndrome type 2C
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Synonyms
  • "Waardenburg syndrome type IIC" EXACT
    "WS2C" EXACT OMO:0003012
Secondary IDs
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MIM:606662