Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:Tietz syndrome
go back to main search page
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.

show annotations for term's descendants       view all columns           Sort by:
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      Tietz syndrome 1
Path 2
Term Annotations click to browse term
  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
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.