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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:Bartter Syndrome Type 3, with Hypocalciuria
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Accession:DOID:9007758 term browser browse the term
Synonyms:primary_id: MESH:C564578
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Bartter Syndrome Type 3, with Hypocalciuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCNKA chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:20810575 PMID:26920127 PMID:28492532 NCBI chr 2:81,612,382...81,627,742 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13584
    syndrome 6725
      Bartter disease 7
        Bartter disease type 3 1
          Bartter Syndrome Type 3, with Hypocalciuria 1
Path 2
Term Annotations click to browse term
  disease 13584
    disease of anatomical entity 13246
      endocrine system disease 4979
        adrenal gland disease 197
          adrenal cortex disease 66
            adrenal gland hyperfunction 27
              primary hyperaldosteronism 19
                Bartter disease 7
                  Bartter disease type 3 1
                    Bartter Syndrome Type 3, with Hypocalciuria 1
paths to the root