OBO ID: DOID:0110952
Term Name: obsolete Waardenburg syndrome type 2D Search Ontology:
Synonyms:
  • Waardenburg syndrome type IID
  • WS2D
Definition: A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11. (3)
References:
Ontology: Human Disease   ( DOID:0110952 )
Obsolete: true
Relationships
OTHER obsolete Waardenburg syndrome type 2D PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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