Search Ontology:
Human Disease

obsolete Waardenburg syndrome type 2D

Term ID
DOID:0110952
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
Obsolete
true
Ontology
Human Disease   ( DOID:0110952 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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