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 4A ID (Ontology) DOID:0110953 (Human Disease)
Definition A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22.
Also Known As "Waardenburg syndrome type IVA" ; "Waardenburg syndrome with Hirschsprung disease type 4A" ; "WS4A"
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autosomal dominant disease__
syndrome____________________|
                            Waardenburg syndrome
                             |__Waardenburg syndrome type 4A
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Synonyms
  • "Waardenburg syndrome type IVA" EXACT
    "Waardenburg syndrome with Hirschsprung disease type 4A" EXACT
    "WS4A" EXACT OMO:0003012
Secondary IDs
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MIM:277580