OBO ID: DOID:0110954
Term Name: Waardenburg syndrome type 4B Search Ontology:
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:
Ontology: Human Disease   ( DOID:0110954 )
Relationships
is a type of:
OTHER Waardenburg syndrome type 4B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EDN3 Waardenburg syndrome, type 4B 613265
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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