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Pseudohypoaldosteronism, Type IIC - Ontology Report - Rat Genome Database

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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:Pseudohypoaldosteronism, Type IIC
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Accession:DOID:9006034 term browser browse the term
Synonyms:exact_synonym: PHA2C;   pseudohypoaldosteronism type 2C
 primary_id: MESH:C564162
 alt_id: MIM:614492;   RDO:0013211

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show annotations for term's descendants           Sort by:
Pseudohypoaldosteronism, Type IIC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnk1 WNK lysine deficient protein kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2C		 OMIM
CTD
ClinVar		 PMID:10869238 PMID:11498583 PMID:16199547 PMID:17344846 PMID:18580052 More... NCBI chr 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Nutritional and Metabolic Diseases 8545
      disease of metabolism 8545
        inherited metabolic disorder 6628
          renal tubular transport disease 111
            pseudohypoaldosteronism 14
              Pseudohypoaldosteronism, Type IIC 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      Urogenital Diseases 5402
        urinary system disease 2834
          kidney disease 2580
            renal tubular transport disease 111
              pseudohypoaldosteronism 14
                Pseudohypoaldosteronism, Type IIC 1
paths to the root