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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 chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Townes-Brocks syndrome 2
        Townes-Brocks-Branchiootorenal-Like Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            Otorhinolaryngologic Diseases 1735
              auditory system disease 992
                Hearing Disorders 820
                  Hearing Loss 815
                    sensorineural hearing loss 625
                      Townes-Brocks syndrome 2
                        Townes-Brocks-Branchiootorenal-Like Syndrome 1
paths to the root