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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 IIB
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Accession:DOID:9006551 term browser browse the term
Synonyms:exact_synonym: PHA2B;   PSEUDOHYPOALDOSTERONISM TYPE 2B
 primary_id: MESH:C564161
 alt_id: OMIM:614491;   RDO:0013210


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Pseudohypoaldosteronism, Type IIB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnk4 WNK lysine deficient protein kinase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2B		 OMIM
CTD
ClinVar		 PMID:718348 PMID:9171836 PMID:11498583 PMID:12107233 PMID:15110905 More... NCBI chr10:86,202,552...86,219,655
Ensembl chr10:86,188,812...86,231,829 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8247
      disease of metabolism 8247
        inherited metabolic disorder 6257
          renal tubular transport disease 134
            pseudohypoaldosteronism 14
              Pseudohypoaldosteronism, Type IIB 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        urinary system disease 2830
          kidney disease 2586
            renal tubular transport disease 134
              pseudohypoaldosteronism 14
                Pseudohypoaldosteronism, Type IIB 1
paths to the root