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ONTOLOGY REPORT - ANNOTATIONS


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
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Tietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:7240710
RGD:8554872

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Path 1
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  disease 16017
    syndrome 6141
      Tietz syndrome 1
Path 2
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  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        sensory system disease 4971
          Otorhinolaryngologic Diseases 1123
            auditory system disease 717
              Hearing Disorders 581
                Hearing Loss 577
                  Deafness 267
                    Tietz syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.