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Disease Ontology Browser
Tietz syndrome (DOID:0090002)
Alliance: disease page
Synonyms: albinism-deafness of Tietz; hypopigmentation/deafness of Tietz; Tietz albinism-deafness syndrome
Alt IDs: OMIM:103500, MESH:C536919, ORDO:42665
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.

Disease References using Mouse Models (6)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory