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 4B ID (Ontology) DOID:0110954 (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 homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13.
Also Known As "Waardenburg syndrome type IVB" ; "Waardenburg syndrome with Hirschsprung disease type 4B" ; "WS4B"
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autosomal dominant disease__
syndrome____________________|
                            Waardenburg syndrome
                             |__Waardenburg syndrome type 4B
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Synonyms
  • "Waardenburg syndrome type IVB" EXACT
    "Waardenburg syndrome with Hirschsprung disease type 4B" EXACT
    "WS4B" EXACT OMO:0003012
Secondary IDs
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MIM:613265