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 2E ID (Ontology) DOID:0110956 (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 heterozygous mutations in the SOX10 gene on chromosome 22q13.
Also Known As "hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation" ; "Waardenburg syndrome type 2E with or without neurologic involvement" ; "Waardenburg syndrome type IIE" (for all, see Synonyms field below)
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 Genes
 Waardenburg syndrome type 2E       1
 for disease ribbon | Waardenburg syndrome type 2E       1
 model of | Waardenburg syndrome type 2E       1
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autosomal dominant disease__
syndrome____________________|
                            Waardenburg syndrome
                             |__Waardenburg syndrome type 2E  1 rec.
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Synonyms
  • "hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation" EXACT
    "Waardenburg syndrome type 2E with or without neurologic involvement" EXACT
    "Waardenburg syndrome type IIE" EXACT
    "WS2E" EXACT OMO:0003012
    "WS2E with or without neurological involvement" EXACT
Secondary IDs
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MIM:611584