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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:Townes-Brocks-Branchiootorenal-Like Syndrome
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Accession:DOID:9004452 term browser browse the term
Synonyms:primary_id: MESH:C566272

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Townes-Brocks-Branchiootorenal-Like Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome ClinVar PMID:9973281 PMID:10928856 PMID:14755477 PMID:16088922 PMID:23069192 More... NCBI chrNW_004955433:9,146,074...9,161,171
Ensembl chrNW_004955433:9,144,748...9,161,171 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9334
      Townes-Brocks syndrome 2
        Townes-Brocks-Branchiootorenal-Like Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11057
      Signs and Symptoms 9147
        Neurologic Manifestations 8846
          sensory system disease 6168
            Otorhinolaryngologic Diseases 1563
              auditory system disease 892
                Hearing Disorders 728
                  Hearing Loss 723
                    sensorineural hearing loss 543
                      Townes-Brocks syndrome 2
                        Townes-Brocks-Branchiootorenal-Like Syndrome 1
paths to the root