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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;   RDO:0003528
 xref: ICD10CM:E26.8
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:241200
ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal
OMIM
ClinVar
PMID:8841184 PMID:9002665 PMID:9015377 PMID:9580661 PMID:9727001 PMID:10049979 PMID:11318951 PMID:12911542 PMID:18391953 PMID:19096086 PMID:19602640 PMID:20699659 PMID:22245519 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32590952 NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    syndrome 7057
      Bartter disease 9
        Bartter disease type 2 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      endocrine system disease 5011
        adrenal gland disease 171
          adrenal cortex disease 76
            adrenal gland hyperfunction 32
              primary hyperaldosteronism 26
                Bartter disease 9
                  Bartter disease type 2 1
paths to the root