FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Tietz syndrome ID (Ontology) DOID:0090002 (Human Disease)
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.
Also Known As "albinism-deafness of Tietz" ; "hypopigmentation/deafness of Tietz" ; "Tietz albinism-deafness syndrome"
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 Genes
 Tietz syndrome       1
 for disease ribbon | Tietz syndrome       1
 model of | Tietz syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                Tietz syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "albinism-deafness of Tietz" EXACT
    "hypopigmentation/deafness of Tietz" EXACT
    "Tietz albinism-deafness syndrome" EXACT
Secondary IDs
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GARD:7772
MESH:C536919
MIM:103500
ORDO:42665