ONTOLOGY REPORT - ANNOTATIONS


Term:Liddle syndrome
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Accession:DOID:0050477 term browser browse the term
Definition:Familial pseudoaldosteronism characterized by autosomal dominant inheritance of hypertension with HYPOKALEMIA; ALKALOSIS; RENIN and ALDOSTERONE level decreases. It is caused by mutations in EPITHELIAL SODIUM CHANNELS beta and gamma subunits. Different mutations in the same EPITHELIAL SODIUM CHANNELS subunits can cause PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT.
Synonyms:exact_synonym: LIDLS;   Liddle's syndrome;   Pseudoaldosteronism
 primary_id: MESH:D056929
 alt_id: RDO:0007768
 xref: GARD:7381;   OMIM:PS177200
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Liddle syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ren renin JBrowse link 13 50,502,724 50,513,953 RGD:11554173
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link 4 157,834,339 157,860,472 RGD:11554173
G Scnn1b sodium channel epithelial 1 beta subunit JBrowse link 1 191,829,547 191,883,991 RGD:737753
RGD:8554872
RGD:11554173
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link 1 191,704,397 191,738,271 RGD:737754
RGD:8554872
Liddle Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scnn1b sodium channel epithelial 1 beta subunit JBrowse link 1 191,829,547 191,883,991 RGD:7240710
RGD:8554872
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link 1 191,704,397 191,738,271 RGD:8554872
Liddle Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link 1 191,704,397 191,738,271 RGD:8554872
RGD:7240710
Liddle Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link 4 157,834,339 157,860,472 RGD:8554872
RGD:7240710

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Path 1
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  disease 14875
    syndrome 4220
      Liddle syndrome 4
        Liddle Syndrome 1 2
        Liddle Syndrome 2 1
        Liddle Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Urogenital Diseases 3874
        urinary system disease 2009
          kidney disease 1805
            renal tubular transport disease 94
              Liddle syndrome 4
                Liddle Syndrome 1 2
                Liddle Syndrome 2 1
                Liddle Syndrome 3 1
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