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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Tietz syndrome
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Accession:DOID:0090002 term browser browse the term
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. (DO)
Synonyms:exact_synonym: TADS;   Tietz albinism-deafness syndrome;   albinism and complete nerve deafness;   albinism-deafness of Tietz;   hypopigmentation-deafness of Tietz
 primary_id: MESH:C536919
 alt_id: OMIM:103500
 xref: GARD:7772;   ORDO:42665
For additional species annotation, visit the Alliance of Genome Resources.

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Path 1
Term Annotations click to browse term
  disease 18203
    syndrome 9805
      Tietz syndrome 1
Path 2
Term Annotations click to browse term
  disease 18203
    Pathological Conditions, Signs and Symptoms 12569
      Signs and Symptoms 10031
        Neurologic Manifestations 9248
          sensory system disease 6476
            skin disease 3880
              pigmentation disease 476
                Hypopigmentation 153
                  Albinism 96
                    oculocutaneous albinism 82
                      Tietz syndrome 1
paths to the root