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Echinobase
Summary Literature (0)
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: Tietz albinism-deafness syndrome, albinism-deafness of Tietz, hypopigmentation/deafness of Tietz,

Echinobase Genes :


OMIM:
MIM:103500 - tietz syndrome

Other Model Organisms: AGR, 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)