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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Waardenburg syndrome type 4A  
Waardenburg syndrome type 4B  
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. (DO)
Waardenburg syndrome type 4C  

Synonyms
Exact Synonyms: WS4B ;   Waardenburg syndrome type IVB ;   Waardenburg syndrome with Hirschsprung disease type 4B
Primary IDs: MESH:C567680
Alternate IDs: OMIM:613265
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/8630502 "DO" "DO"

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