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Human Disease

Waardenburg syndrome type 4B

Term ID
DOID:0110954
Synonyms
  • Waardenburg syndrome type IVB
  • Waardenburg syndrome with Hirschsprung disease type 4B
  • WS4B
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. https://www.ncbi.nlm.nih.gov/pubmed/8630502
References
  • MIM:613265
Ontology
Human Disease   ( DOID:0110954 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations