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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 disease type 1
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Accession:DOID:0110142 term browser browse the term
Definition:A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21. (DO)
Synonyms:exact_synonym: BARTS1;   Bartter syndrome type 1;   Bartter syndrome type 1 antenatal;   HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 1, ANTENATAL;   Hyperprostaglandin E syndrome 1;   Hypokalemic alkalosis with hypercalciuria, antenatal;   SLC12A1-RELATED CONDITION
 primary_id: MESH:C537652
 alt_id: OMIM:601678
 xref: NCI:C178412

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Bartter disease type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: SLC12A1-related condition OMIM
ClinVar		 PMID:8640224 PMID:9355073 PMID:9536098 PMID:9585600 PMID:12761241 More... NCBI chrNW_004936471:10,564,530...10,648,124
Ensembl chrNW_004936471:10,564,535...10,646,977 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      Bartter disease 7
        Bartter disease type 1 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      endocrine system disease 5609
        adrenal gland disease 254
          adrenal cortex disease 85
            adrenal gland hyperfunction 28
              primary hyperaldosteronism 22
                Bartter disease 7
                  Bartter disease type 1 1
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