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 2A ID (Ontology) DOID:0110950 (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 mutation in the MITF gene on chromosome 3p13.
Also Known As "Waardenburg syndrome type IIA" ; "WS2A"
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 Genes
 Waardenburg syndrome type 2A       1
 for disease ribbon | Waardenburg syndrome type 2A       1
 model of | Waardenburg syndrome type 2A       1
Spanning Tree (Parents/Children)
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autosomal dominant disease
 |__Waardenburg syndrome__
polygenic disease         |
 |__digenic disease_______|
syndrome                  |
 |__Waardenburg syndrome__|
                          Waardenburg syndrome type 2A  1 rec.
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Is a digenic disease
Waardenburg syndrome
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Synonyms
  • "Waardenburg syndrome type IIA" EXACT
    "WS2A" EXACT OMO:0003012
Secondary IDs
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GARD:5521
MESH:C536464
MIM:193510