OBO ID: DOID:0110953
Term Name: Waardenburg syndrome type 4A Search Ontology:
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:
Ontology: Human Disease   ( DOID:0110953 )
Relationships
is a type of:
OTHER Waardenburg syndrome type 4A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EDNRB Waardenburg syndrome, type 4A 277580
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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