header logo image header logo text
Downloads Login
Research
General Information
ZIRC
OBO ID: DOID:0090002
Term Name: Tietz syndrome Search Ontology:
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)
OTHER Tietz syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MITF Tietz albinism-deafness syndrome 103500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None