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Bartter disease type 3 - Ontology Report - Rat Genome Database

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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 3
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Accession:DOID:0110144 term browser browse the term
Definition:A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36. (DO)
Synonyms:exact_synonym: BARTS3;   Bartter Syndrome, Type 3;   Bartter syndrome, classic
 primary_id: MESH:C537653
 alt_id: MIM:607364
 xref: GARD:9659

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Bartter disease type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656 		JBrowse link
G G CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756 		JBrowse link
G P CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chr13:138,279,785...138,364,934
Ensembl chr13:138,280,364...138,364,252 		JBrowse link
G S Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454 		JBrowse link
G D CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559 		JBrowse link
G B CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268 		JBrowse link
G C Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210 		JBrowse link
G R Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G M Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503 		JBrowse link
G H CASR calcium sensing receptor IAGP ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G P CLCNK chloride voltage-gated channel K ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 6:75,178,914...75,192,670 JBrowse link
G D CLCNK chloride voltage-gated channel K ISO ClinVar Annotator: match by term: Bartter disease type 3 OMIM
ClinVar		 PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 More... NCBI chr 2:81,612,382...81,627,742 JBrowse link
G N Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chrNW_004624764:2,202,438...2,212,185
Ensembl chrNW_004624764:2,202,579...2,212,337 		JBrowse link
G S Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chrNW_004936474:3,591,134...3,601,562 JBrowse link
G R Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 5:158,974,190...158,989,275
Ensembl chr 5:153,691,209...153,706,148 		JBrowse link
G M Clcnka chloride channel, voltage-sensitive Ka ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 4:141,111,922...141,126,017
Ensembl chr 4:141,111,921...141,126,035 		JBrowse link
G H CLCNKA chloride voltage-gated channel Ka IAGP ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050 		JBrowse link
G B CLCNKB chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Bartter disease type 3 OMIM
ClinVar		 PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 More... NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166 		JBrowse link
G R Clcnkb chloride voltage-gated channel Kb ISO
ISS		 ClinVar Annotator: match by term: Bartter disease type 3
OMIM:607364
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 More... NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
G M Clcnkb chloride channel, voltage-sensitive Kb ISO
IAGP		 ClinVar Annotator: match by term: Bartter disease type 3
CTD Direct Evidence: marker/mechanism
OMIM:607364		 OMIM
ClinVar
CTD
MouseDO		 PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 More... NCBI chr 4:141,131,668...141,143,440
Ensembl chr 4:141,131,664...141,143,325 		JBrowse link
G H CLCNKB chloride voltage-gated channel Kb IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bartter disease type 3
OMIM:607364
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 More... NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G B LOC100986591 chloride channel protein ClC-Ka ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 1:15,159,362...15,171,376
Ensembl chr 1:16,152,022...16,163,777 		JBrowse link
G G LOC103225532 chloride channel protein ClC-Kb ISO ClinVar Annotator: match by term: Bartter disease type 3 OMIM
ClinVar		 PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 More... NCBI chr20:116,241,589...116,255,452
Ensembl chr20:116,241,569...116,254,280 		JBrowse link
G H LOC106501713 CLCNKB recombination region IAGP ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 More... NCBI chr 1:16,044,593...16,059,459 JBrowse link
G N Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 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 3 ClinVar PMID:25741868 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 3 ClinVar PMID:25741868 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 3 ClinVar PMID:25741868 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 3 ClinVar PMID:25741868 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 3 ClinVar PMID:25741868 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 3 ClinVar PMID:25741868 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 ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 3:132,859,581...132,936,354
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
G M Slc12a1 solute carrier family 12, member 1 ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 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 ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078 		JBrowse link
Bartter Syndrome Type 3, with Hypocalciuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D CLCNK chloride voltage-gated channel K ISO ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:17622951 PMID:24830959 PMID:24965226 More... NCBI chr 2:81,612,382...81,627,742 JBrowse link
G B CLCNKB chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:17622951 PMID:24830959 PMID:24965226 More... NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166 		JBrowse link
G R Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:17622951 PMID:24830959 PMID:24965226 More... NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
G M Clcnkb chloride channel, voltage-sensitive Kb ISO ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:17622951 PMID:24830959 PMID:24965226 More... NCBI chr 4:141,131,668...141,143,440
Ensembl chr 4:141,131,664...141,143,325 		JBrowse link
G H CLCNKB chloride voltage-gated channel Kb IAGP ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:17622951 PMID:24830959 PMID:24965226 More... NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G G LOC103225532 chloride channel protein ClC-Kb ISO ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:17622951 PMID:24830959 PMID:24965226 More... NCBI chr20:116,241,589...116,255,452
Ensembl chr20:116,241,569...116,254,280 		JBrowse link
G H LOC106501713 CLCNKB recombination region IAGP ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:17622951 PMID:24830959 PMID:24965226 More... NCBI chr 1:16,044,593...16,059,459 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      Bartter disease 96
        Bartter disease type 3 34
          Bartter Syndrome Type 3, with Hypocalciuria 7
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      endocrine system disease 80498
        adrenal gland disease 2772
          adrenal cortex disease 880
            adrenal gland hyperfunction 396
              primary hyperaldosteronism 323
                Bartter disease 96
                  Bartter disease type 3 34
                    Bartter Syndrome Type 3, with Hypocalciuria 7
paths to the root