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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
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Accession:DOID:445 term browser 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;   NCI:C34412;   OMIM:PS601678
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
Bartter disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 PMID:11687798 PMID:16583241 PMID:16773427 PMID:17954364 PMID:18776122 PMID:19025784 PMID:19096086 PMID:23967202 PMID:24033266 PMID:24902942 PMID:25741868 PMID:26467025 PMID:28012523 PMID:28492532 PMID:29254190 PMID:30174009, PMID:11687798 RGD:1600603 NCBI chr 5:126,071,849...126,080,647
Ensembl chr 5:126,071,846...126,080,698 		JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO CTD Direct Evidence: marker/mechanism CTD PMID:10561751 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676 		JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Antenatal Bartter Syndrome		 CTD
ClinVar		 PMID:10561751 PMID:12911542 PMID:16982955 PMID:22275899 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165 		JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154 PMID:3519017 PMID:15976003 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO antenatal Bartter syndrome type 1,OMIM:601678;DNA:point mutation:exon:D648N, V272F
CTD Direct Evidence: marker/mechanism		 CTD PMID:10561751, PMID:8640224 RGD:1624188 NCBI chr 3:117,421,531...117,498,372
Ensembl chr 3:117,421,604...117,498,367 		JBrowse link
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:11152759 PMID:12107202 PMID:12191970 PMID:12241879 PMID:15005845 PMID:17048213 PMID:25741868 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771 		JBrowse link
Bartter disease type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Hyperprostaglandin E syndrome 1 ClinVar PMID:25326637 PMID:28492532 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal
ClinVar Annotator: match by OMIM:601678		 OMIM
ClinVar		 PMID:8640224 PMID:9355073 PMID:9585600 PMID:12761241 PMID:15167446 PMID:18391953 PMID:19096086 PMID:19513753 PMID:19602640 PMID:20219833 PMID:21157372 PMID:21209010 PMID:23897314 PMID:24033266 PMID:24253496 PMID:24550759 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26963954 PMID:28000888 PMID:28095294 PMID:28492532 PMID:28893421 PMID:30113482 NCBI chr 3:117,421,531...117,498,372
Ensembl chr 3:117,421,604...117,498,367 		JBrowse link
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 term: Bartter syndrome, type 2, antenatal
ClinVar Annotator: match by OMIM:241200		 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 		JBrowse link
Bartter disease type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter syndrome type 3 ClinVar PMID:25741868 NCBI chr 5:159,931,497...159,946,483
Ensembl chr 5:159,931,511...159,946,446 		JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Bartter syndrome type 3
ClinVar Annotator: match by OMIM:607364		 OMIM
ClinVar		 PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 PMID:17185149 PMID:21631963 PMID:23991001 PMID:24033266 PMID:24058621 PMID:24830959 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25810436 PMID:26467025 PMID:28288174 PMID:28555925 PMID:32576985 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676 		JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Bartter disease type 4a
ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS
ClinVar Annotator: match by OMIM:602522		 OMIM
ClinVar		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12574213 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:25741868 PMID:26467025 PMID:26537508 PMID:28012523 PMID:28492532 PMID:29254190 PMID:30174009 NCBI chr 5:126,071,849...126,080,647
Ensembl chr 5:126,071,846...126,080,698 		JBrowse link
Bartter disease type 4b term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by OMIM:613090
ClinVar Annotator: match by term: Bartter syndrome, type 4b		 ClinVar
OMIM		 PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:159,931,497...159,946,483
Ensembl chr 5:159,931,511...159,946,446 		JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO OMIM NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676 		JBrowse link
Bartter disease type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Bartter syndrome, type 5, antenatal, transient ClinVar
OMIM		 PMID:27120771 NCBI chr 5:33,174,539...33,182,715
Ensembl chr 5:33,174,542...33,182,715 		JBrowse link
Bartter Syndrome Type 3, with Hypocalciuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria		 ClinVar PMID:15531551 PMID:16902263 PMID:20810575 PMID:26920127 PMID:28492532 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676 		JBrowse link
Sensorineural Deafness with Mild Renal Dysfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction		 ClinVar PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 NCBI chr 5:126,071,849...126,080,647
Ensembl chr 5:126,071,846...126,080,698 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    syndrome 7057
      Bartter disease 9
        Autosomal Dominant Hypocalcemia, with Bartter Syndrome 1
        Bartter disease type 1 2
        Bartter disease type 2 1
        Bartter disease type 3 + 2
        Bartter disease type 4A 1
        Bartter disease type 4b 2
        Bartter disease type 5 1
        Sensorineural Deafness with Mild Renal Dysfunction 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
                  Autosomal Dominant Hypocalcemia, with Bartter Syndrome 1
                  Bartter disease type 1 2
                  Bartter disease type 2 1
                  Bartter disease type 3 + 2
                  Bartter disease type 4A 1
                  Bartter disease type 4b 2
                  Bartter disease type 5 1
                  Sensorineural Deafness with Mild Renal Dysfunction 1
paths to the root