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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.


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Bartter Syndrome Type 3, with Hypocalciuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria
ClinVar PMID:15531551 PMID:16902263 PMID:20810575 PMID:26920127 PMID:28492532 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Bartter disease 9
        Bartter disease type 3 2
          Bartter Syndrome Type 3, with Hypocalciuria 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      endocrine system disease 5010
        adrenal gland disease 171
          adrenal cortex disease 76
            adrenal gland hyperfunction 32
              primary hyperaldosteronism 26
                Bartter disease 9
                  Bartter disease type 3 2
                    Bartter Syndrome Type 3, with Hypocalciuria 1
paths to the root