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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: MIM:103500
 xref: GARD:7772;   ORDO:42665



show annotations for term's descendants           Sort by:
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18973
    syndrome 10901
      Tietz syndrome 1
Path 2
Term Annotations click to browse term
  disease 18973
    Pathological Conditions, Signs and Symptoms 13385
      Signs and Symptoms 10876
        Neurologic Manifestations 10114
          sensory system disease 7036
            skin disease 4070
              pigmentation disease 279
                Hypopigmentation 156
                  Albinism 99
                    oculocutaneous albinism 82
                      Tietz syndrome 1
paths to the root