Search Ontology:
Human Disease

Waardenburg syndrome type 4A

Term ID
DOID:0110953
Synonyms
  • Waardenburg syndrome type IVA
  • Waardenburg syndrome with Hirschsprung disease type 4A
  • WS4A
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 heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22. https://www.ncbi.nlm.nih.gov/pubmed/8001158
References
  • MIM:277580
Ontology
Human Disease   ( DOID:0110953 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models
Citations