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
Accession: DOID:445
browse the term
Definition: A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
Synonyms: exact_synonym: Bartter syndrome; Bartter's Disease; Bartter's syndrome; Bartters Disease; Bartters syndrome; aldosteronism with hyperplasia of the adrenal cortex; juxtaglomerular hyperplasia with secondary aldosteronism
narrow_synonym: ANTENATAL BARTTER SYNDROME
primary_id: MESH:D001477
xref: GARD:5893 ; ICD10CM:E26.81 ; ICD9CM:255.13 ; MIM:PS601678 ; NCI:C34412
For additional species annotation, visit the
Alliance of Genome Resources .
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Bsnd
barttin CLCNK type accessory subunit beta
ISO
Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon ClinVar Annotator: match by term: Bartter syndrome | ClinVar Annotator: match by term: Bartter's syndrome
ClinVar RGD
PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 PMID:16199547 PMID:16328537 PMID:16572343 PMID:16583241 PMID:16773427 PMID:16935888 PMID:17954364 PMID:18776122 PMID:19025784 PMID:19096086 PMID:19646679 PMID:21269598 PMID:21541222 PMID:21865213 PMID:23967202 PMID:24033266 PMID:24902942 PMID:24949729 PMID:25741868 PMID:26467025 PMID:26537508 PMID:26857709 PMID:28012523 PMID:28492532 PMID:28555110 PMID:29254190 PMID:29986705 PMID:30174009 PMID:30303587 PMID:30311386 PMID:30733538 PMID:32608139 PMID:33348466 PMID:35628451 PMID:35709690 PMID:11687798 More...
RGD:1600603
NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571
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Clcnkb
chloride voltage-gated channel Kb
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bartter syndrome
CTD ClinVar MouseDO
PMID:9326936 PMID:10561751 PMID:10831588 PMID:10906158 PMID:11734858 PMID:12472765 PMID:21631963 PMID:23703872 PMID:24058621 PMID:24830959 PMID:25741868 PMID:25810436 PMID:26467025 PMID:28288174 PMID:28381550 PMID:28492532 PMID:28555925 PMID:31115572 PMID:32576985 PMID:32857947 More...
NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
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Kcnj1
potassium inwardly-rectifying channel, subfamily J, member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndrome
CTD ClinVar
PMID:9002665 PMID:9015377 PMID:9502574 PMID:9587066 PMID:10561751 PMID:10611379 PMID:10878442 PMID:11318951 PMID:12081585 PMID:12086641 PMID:12911542 PMID:16982955 PMID:18391953 PMID:19096086 PMID:19221509 PMID:20219833 PMID:21865213 PMID:22275899 PMID:23782368 PMID:24400161 PMID:24659592 PMID:24696311 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28630040 PMID:28979772 PMID:29036958 PMID:29942493 PMID:31441846 PMID:31731488 PMID:32251469 PMID:32573669 PMID:32939031 PMID:32997650 PMID:33058840 PMID:34663630 PMID:34751387 PMID:35006361 PMID:35463019 PMID:37197039 More...
NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796
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Ren
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:929154 PMID:3519017 PMID:15976003
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Slc12a1
solute carrier family 12 member 1
ISO
antenatal Bartter syndrome type 1,OMIM:601678;DNA:point mutation:exon:D648N, V272F ClinVar Annotator: match by term: Bartter syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:8640224 PMID:9585600 PMID:10561751 PMID:16199547 PMID:18391953 PMID:19096086 PMID:20219833 PMID:25741868 PMID:28492532 PMID:29398133 PMID:35358470 PMID:36092934 PMID:8640224 More...
RGD:1624188
NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899
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Slc12a3
solute carrier family 12 member 3
ISO
ClinVar Annotator: match by term: Bartter's syndrome
ClinVar
PMID:8528245 PMID:9596079 PMID:9734597 PMID:10988270 PMID:12039972 PMID:16199547 PMID:17329572 PMID:18391953 PMID:20848653 PMID:21415153 PMID:22009145 PMID:23328711 PMID:25741868 PMID:25841442 PMID:26467025 PMID:26770037 PMID:26921350 PMID:28492532 PMID:30413979 PMID:31577716 PMID:35591852 More...
NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091
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Casr
calcium-sensing receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD ClinVar
PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 PMID:15005845 PMID:17048213 PMID:24297799 PMID:25506941 PMID:25741868 PMID:25967373 PMID:28492532 More...
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Slc12a1
solute carrier family 12 member 1
ISO ISS
ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal | 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 PMID:15167446 PMID:16199547 PMID:17576681 PMID:17699451 PMID:18391953 PMID:19096086 PMID:19513753 PMID:19602640 PMID:20219833 PMID:21157372 PMID:21209010 PMID:23897314 PMID:24033266 PMID:24253496 PMID:24550759 PMID:24902942 PMID:25326637 PMID:25422309 PMID:25741868 PMID:26467025 PMID:26963954 PMID:28000888 PMID:28095294 PMID:28492532 PMID:28893421 PMID:29398133 PMID:29527380 PMID:29942493 PMID:30076350 PMID:30113482 PMID:31625567 PMID:32997713 PMID:33532864 PMID:33973684 PMID:35348259 PMID:35628451 PMID:36058813 PMID:36092934 More...
NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899
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Kcnj1
potassium inwardly-rectifying channel, subfamily J, member 1
ISO ISS
ClinVar Annotator: match by term: Bartter disease type 2 | ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal OMIM:241200 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:8841184 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9580661 PMID:9727001 PMID:10049979 PMID:10611379 PMID:10878442 PMID:11318951 PMID:12086641 PMID:12589089 PMID:12911542 PMID:18391953 PMID:19096086 PMID:19221509 PMID:19602640 PMID:20219833 PMID:20699659 PMID:20926634 PMID:22245519 PMID:22441188 PMID:24400161 PMID:24659592 PMID:24696311 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28630040 PMID:29942493 PMID:31441846 PMID:31731488 PMID:32251469 PMID:32573669 PMID:32590952 PMID:32939031 PMID:32997650 PMID:33058840 PMID:34345425 PMID:34663630 PMID:34751387 PMID:35006361 PMID:37197039 More...
NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796
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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
G
Clcnka
chloride voltage-gated channel Ka
ISO
ClinVar Annotator: match by term: Bartter disease type 3
ClinVar
PMID:25741868
NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148
G
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 PMID:15531551 PMID:15875219 PMID:16902263 PMID:17185149 PMID:17622951 PMID:20810575 PMID:21415153 PMID:21631963 PMID:21865213 PMID:23703872 PMID:23991001 PMID:24033266 PMID:24058621 PMID:24271511 PMID:24830959 PMID:24965226 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25810436 PMID:26467025 PMID:26920127 PMID:28288174 PMID:28381550 PMID:28492532 PMID:28555925 PMID:29254190 PMID:30773290 PMID:31115572 PMID:31672324 PMID:31690835 PMID:31803959 PMID:31834604 PMID:32576985 PMID:32857947 PMID:33532864 More...
NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
G
Slc12a1
solute carrier family 12 member 1
ISO
ClinVar Annotator: match by term: Bartter disease type 3
ClinVar
PMID:25741868
NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899
G
Bsnd
barttin CLCNK type accessory subunit beta
ISO ISS
ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Bartter disease type 4A OMIM:602522 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 PMID:16199547 PMID:16328537 PMID:16572343 PMID:16583241 PMID:16773427 PMID:16935888 PMID:17954364 PMID:18776122 PMID:19025784 PMID:19096086 PMID:19646679 PMID:21269598 PMID:21541222 PMID:21865213 PMID:23967202 PMID:24033266 PMID:24828792 PMID:24902942 PMID:24949729 PMID:25741868 PMID:26467025 PMID:26537508 PMID:26857709 PMID:28012523 PMID:28492532 PMID:28555110 PMID:29254190 PMID:29942493 PMID:29986705 PMID:30174009 PMID:30303587 PMID:30311386 PMID:30733538 PMID:32608139 PMID:33348466 PMID:35628451 PMID:35709690 More...
NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571
G
Clcnka
chloride voltage-gated channel Ka
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bartter disease type 4B
OMIM CTD ClinVar
PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148
G
Clcnkb
chloride voltage-gated channel Kb
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bartter disease type 4B
OMIM CTD ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
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Maged2
MAGE family member D2
ISO
ClinVar Annotator: match by term: Bartter disease type 5 | ClinVar Annotator: match by term: Bartter syndrome, type 5, antenatal, transient
OMIM ClinVar
PMID:25741868 PMID:27120771 PMID:28492532 PMID:29146702 PMID:29758562
NCBI chr X:19,733,593...19,741,769
Ensembl chr X:19,733,597...19,740,477
G
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 PMID:25741868 PMID:26920127 PMID:28381550 PMID:28492532 PMID:29254190 More...
NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
G
Bsnd
barttin CLCNK type accessory subunit beta
ISO
ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction
ClinVar
PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587 PMID:30311386 More...
NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571
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