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DO Term : Tietz syndrome [DOID:0090002] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • Tietz albinism-deafness syndrome,
  • ORDO:42665,
  • hypopigmentation/deafness of Tietz,
  • OMIM:103500,
  • 103500,
  • MESH:C536919,
  • albinism-deafness of Tietz,
  • GARD:7772
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents