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Term:
Parent Terms Term With Siblings Child Terms
Waardenburg syndrome type 4A  
Waardenburg syndrome type 4B  
Waardenburg syndrome type 4C  
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 mutation in the SOX10 gene on chromosome 22q13. (DO)

Synonyms
Exact Synonyms: WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4C ;   WS4C ;   Waardenburg Syndrome With Hirschsprung Disease, Type 4c Waardenburg Syndrome, Type Ivc ;   Waardenburg syndrome type IVC
Primary IDs: MESH:C567679
Alternate IDs: OMIM:613266
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/9462749 "DO" "DO"

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