Search Ontology:
Human Disease

Waardenburg syndrome type 4C

Term ID
DOID:0110955
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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