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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:Liddle Syndrome 3
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Accession:DOID:9009241 term browser browse the term
Synonyms:exact_synonym: LIDLS3
 primary_id: OMIM:618126

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Liddle Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Liddle syndrome 3 OMIM
ClinVar		 PMID:1506904 PMID:10523338 PMID:21889619 PMID:23149595 PMID:24033266 More... NCBI chrNW_004936709:1,377,852...1,403,398
Ensembl chrNW_004936709:1,377,831...1,403,833 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      Liddle syndrome 4
        Liddle Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Urogenital Diseases 4491
        urinary system disease 2276
          kidney disease 2063
            renal tubular transport disease 123
              Liddle syndrome 4
                Liddle Syndrome 3 1
paths to the root