Tietz syndrome

Summary

DOID:0090002 - Tietz syndrome

Disease Ontology 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.

Synonyms: albinism-deafness of Tietz, hypopigmentation/deafness of Tietz, Tietz albinism-deafness syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mitf

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007077 - Tietz syndrome

MONDO:0007077 - Tietz syndrome

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), monogenic disease (is_a), syndrome (is_a)