OBO ID: DOID:0110955
Term Name: Waardenburg syndrome type 4C Search Ontology:
Synonyms:
  • Waardenburg syndrome type IVC
  • Waardenburg syndrome with Hirschsprung disease type 4C
  • WS4C
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 mutation in the SOX10 gene on chromosome 22q13. https://www.ncbi.nlm.nih.gov/pubmed/9462749
References:
Ontology: Human Disease   ( DOID:0110955 )
Relationships
is a type of:
OTHER Waardenburg syndrome type 4C PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SOX10 Waardenburg syndrome, type 4C 613266
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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