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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 2
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Accession:DOID:0110143 term browser browse the term
Definition:A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24. (DO)
Synonyms:exact_synonym: BARTS2;   Bartter syndrome type 2;   Bartter syndrome type 2 antenatal;   HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 2, ANTENATAL;   Hyperprostaglandin E syndrome 2
 primary_id: MESH:C537651
 alt_id: OMIM:241200
 xref: ICD10CM:E26.8


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Bartter disease type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:241200
ClinVar Annotator: match by term: Bartter disease type 2 | ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal		 OMIM
CTD
MouseDO
ClinVar		 PMID:8841184 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9580661 More... NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      Bartter disease 9
        Bartter disease type 2 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      endocrine system disease 6819
        adrenal gland disease 282
          adrenal cortex disease 99
            adrenal gland hyperfunction 35
              primary hyperaldosteronism 29
                Bartter disease 9
                  Bartter disease type 2 1
paths to the root