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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: Albinism and complete nerve deafness;   Albinism-deafness of Tietz;   Hypopigmentation-deafness of Tietz;   TADS;   Tietz albinism-deafness syndrome
 primary_id: MESH:C536919
 alt_id: OMIM:103500;   RDO:0002644
 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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  disease 14759
    syndrome 4210
      Tietz syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          skin disease 2240
            pigmentation disease 210
              Hypopigmentation 103
                Albinism 51
                  oculocutaneous albinism 41
                    Tietz syndrome 1
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