ONTOLOGY REPORT - ANNOTATIONS


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
 alt_id: RDO:0003529
 xref: GARD:5893;   OMIM:PS601678
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Bartter disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bsnd barttin CLCNK type accessory beta subunit JBrowse link 5 126,071,849 126,080,647 RGD:1600603
RGD:8554872
G Clcnkb chloride voltage-gated channel Kb JBrowse link 5 159,950,384 159,973,576 RGD:11554173
G Kcnj1 potassium voltage-gated channel subfamily J member 1 JBrowse link 8 33,490,280 33,519,127 RGD:11554173
RGD:8554872
G Ren renin JBrowse link 13 50,502,724 50,513,953 RGD:11554173
G Slc12a1 solute carrier family 12 member 1 JBrowse link 3 117,421,531 117,498,372 RGD:1624188
RGD:8554872
RGD:11554173
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:8554872
RGD:11554173
Bartter disease type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:8554872
G Slc12a1 solute carrier family 12 member 1 JBrowse link 3 117,421,531 117,498,372 RGD:7240710
RGD:8554872
Bartter disease type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj1 potassium voltage-gated channel subfamily J member 1 JBrowse link 8 33,490,280 33,519,127 RGD:7240710
RGD:8554872
Bartter disease type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcnka chloride voltage-gated channel Ka JBrowse link 5 159,931,497 159,946,483 RGD:8554872
G Clcnkb chloride voltage-gated channel Kb JBrowse link 5 159,950,384 159,973,576 RGD:7240710
RGD:8554872
Bartter disease type 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bsnd barttin CLCNK type accessory beta subunit JBrowse link 5 126,071,849 126,080,647 RGD:7240710
RGD:8554872
Bartter disease type 4b term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcnka chloride voltage-gated channel Ka JBrowse link 5 159,931,497 159,946,483 RGD:8554872
RGD:7240710
G Clcnkb chloride voltage-gated channel Kb JBrowse link 5 159,950,384 159,973,576 RGD:7240710
Bartter disease type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maged2 MAGE family member D2 JBrowse link 5 33,174,539 33,182,715 RGD:8554872
RGD:7240710
Bartter Syndrome Type 3, with Hypocalciuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcnkb chloride voltage-gated channel Kb JBrowse link 5 159,950,384 159,973,576 RGD:8554872
Sensorineural Deafness with Mild Renal Dysfunction term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bsnd barttin CLCNK type accessory beta subunit JBrowse link 5 126,071,849 126,080,647 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      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 14875
    disease of anatomical entity 14051
      endocrine system disease 4668
        adrenal gland disease 145
          adrenal cortex disease 77
            adrenal gland hyperfunction 30
              primary hyperaldosteronism 24
                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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.