Search Ontology:
Human Disease

Tietz syndrome

Term ID
DOID:0090002
Synonyms
  • albinism-deafness of Tietz
  • hypopigmentation/deafness of Tietz
  • Tietz albinism-deafness syndrome
Definition
A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13. (3)
References
Ontology
Human Disease   ( DOID:0090002 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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