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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
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Accession:DOID:0050477 term browser browse the term
Definition:A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel. (DO)
Synonyms:exact_synonym: LIDLS;   Liddle's syndrome;   pseudoaldosteronism
 primary_id: MESH:D056929
 xref: GARD:7381;   MIM:PS177200;   NCI:C84827


show annotations for term's descendants           Sort by:
Liddle syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12185466 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348737 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO
ISS		 ClinVar Annotator: match by term: Pseudoaldosteronism
OMIM:177200
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:9576123 PMID:9674649 PMID:15661075 PMID:16207733 PMID:18398334 More... RGD:737753 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO DNA:nonsense mutation:exon:p.W574X (human) RGD PMID:7550319 RGD:737754 NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816 		JBrowse link
Liddle Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Liddle syndrome 1 OMIM
ClinVar		 PMID:7777572 PMID:7954808 PMID:8524790 PMID:8589714 PMID:8601645 More... NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Liddle syndrome 1 ClinVar NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816 		JBrowse link
Liddle Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Liddle syndrome 2 OMIM
ClinVar		 PMID:7550319 PMID:10391210 PMID:12473862 PMID:15198480 PMID:17460608 More... NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816 		JBrowse link
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 chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      Liddle syndrome 4
        Liddle Syndrome 1 2
        Liddle Syndrome 2 1
        Liddle Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Urogenital Diseases 5375
        urinary system disease 2831
          kidney disease 2579
            renal tubular transport disease 110
              Liddle syndrome 4
                Liddle Syndrome 1 2
                Liddle Syndrome 2 1
                Liddle Syndrome 3 1
paths to the root