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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 H CTXN2-AS1 CTXN2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Bartter disease type 1 ClinVar PMID:8640224 PMID:19513753 PMID:25741868 NCBI chr15:48,188,080...48,191,709
Ensembl chr15:48,187,121...48,191,691 		JBrowse link
G H LOC126862123 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48543423-48544622 IAGP ClinVar Annotator: match by term: Bartter disease type 1
ClinVar Annotator: match by term: SLC12A1-related condition		 ClinVar PMID:8640224 PMID:9355073 PMID:9585600 PMID:19096086 PMID:25741868 More... NCBI chr15:48,251,226...48,252,425 JBrowse link
G N 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_004624731:11,403,936...11,486,244
Ensembl chrNW_004624731:11,403,675...11,484,982 		JBrowse link
G 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 chr26:34,974,947...35,077,241
Ensembl chr26:34,976,126...35,075,186 		JBrowse link
G P 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 chr 1:123,481,892...123,571,655
Ensembl chr 1:123,481,369...123,571,630 		JBrowse link
G S 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
G D 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 chr30:14,458,373...14,548,870
Ensembl chr30:14,459,606...14,547,694 		JBrowse link
G B 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 chr15:27,155,331...27,252,995
Ensembl chr15:45,479,583...45,577,084 		JBrowse link
G C 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_004955409:5,597,033...5,680,009
Ensembl chrNW_004955409:5,597,033...5,680,009 		JBrowse link
G R Slc12a1 solute carrier family 12 member 1 ISO
ISS		 ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: SLC12A1-related condition
OMIM:601678
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8640224 PMID:9355073 PMID:9536098 PMID:9585600 PMID:12761241 More... NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
G M Slc12a1 solute carrier family 12, member 1 ISO
IAGP		 ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: SLC12A1-related condition
CTD Direct Evidence: marker/mechanism
OMIM:601678		 OMIM
ClinVar
CTD
MouseDO		 PMID:8640224 PMID:9355073 PMID:9536098 PMID:9585600 PMID:12761241 More... NCBI chr 2:124,994,430...125,071,922
Ensembl chr 2:124,994,425...125,071,922 		JBrowse link
G H SLC12A1 solute carrier family 12 member 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bartter disease type 1
ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: SLC12A1-related condition
OMIM:601678
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:8640224 PMID:9355073 PMID:9536098 PMID:9585600 PMID:12761241 More... NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 199762
    syndrome 107352
      Bartter disease 77
        Bartter disease type 1 12
Path 2
Term Annotations click to browse term
  disease 199762
    disease of anatomical entity 167985
      endocrine system disease 61104
        adrenal gland disease 2748
          adrenal cortex disease 955
            adrenal gland hyperfunction 321
              primary hyperaldosteronism 261
                Bartter disease 77
                  Bartter disease type 1 12
paths to the root