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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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


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Tietz syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:103500
ClinVar Annotator: match by term: Tietz syndrome		 CTD
MouseDO
ClinVar
OMIM		 PMID:2440678 PMID:8589691 PMID:8659547 PMID:9279758 PMID:9536098 More... NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Tietz syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              pigmentation disease 278
                Hypopigmentation 155
                  Albinism 98
                    oculocutaneous albinism 81
                      Tietz syndrome 1
paths to the root