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RGD uses the Human Disease Ontology (DO, 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
 primary_id: MESH:C537652;   RDO:0003530
 alt_id: OMIM:601678
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Bartter disease type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Hyperprostaglandin E syndrome 1 ClinVar PMID:25326637 PMID:28492532 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
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G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by OMIM:601678
ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal
PMID:8640224 PMID:9355073 PMID:9585600 PMID:12761241 PMID:15167446 PMID:18391953 PMID:19096086 PMID:19513753 PMID:19602640 PMID:20219833 PMID:21157372 PMID:21209010 PMID:23897314 PMID:24033266 PMID:24253496 PMID:24550759 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26963954 PMID:28000888 PMID:28095294 PMID:28492532 PMID:28893421 PMID:30113482 NCBI chr 3:117,421,531...117,498,372
Ensembl chr 3:117,421,604...117,498,367
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Bartter disease 9
        Bartter disease type 1 2
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 1 2
paths to the root