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ONTOLOGY REPORT - ANNOTATIONS


Term:Acid-Base Imbalance
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Accession:DOID:9006795 term browser browse the term
Definition:Disturbances in the ACID-BASE EQUILIBRIUM of the body.
Synonyms:exact_synonym: Acid-Base Imbalances
 primary_id: MESH:D000137;   RDO:0004705
For additional species annotation, visit the Alliance of Genome Resources.


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Acid-Base Imbalance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbp1 fructose-bisphosphatase 1 JBrowse link 17 396,175 417,480 RGD:8554872
Achlorhydria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:1581602
G Kcnq1dfk potassium voltage-gated channel subfamily Q member 1;deafness Kyoto RGD:1581602
G Tff1 trefoil factor 1 JBrowse link 20 9,892,124 9,895,984 RGD:2292010
G Tlr9 toll-like receptor 9 JBrowse link 8 114,916,122 114,920,171 RGD:5130741
Acidoses term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adm adrenomedullin JBrowse link 1 175,443,189 175,447,260 RGD:1625312
G Amt aminomethyltransferase JBrowse link 8 117,068,388 117,078,633 RGD:1599107
G Cldn14 claudin 14 JBrowse link 11 34,132,581 34,142,813 RGD:1600867
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link 9 74,113,437 74,236,274 RGD:4144071
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 JBrowse link 7 70,333,150 70,340,006 RGD:2307324
G Nfe2l2 nuclear factor, erythroid 2-like 2 JBrowse link 3 62,497,568 62,525,146 RGD:11554173
G Otc ornithine carbamoyltransferase JBrowse link X 13,524,804 13,601,074 RGD:4144071
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:634144
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:7242944
RGD:7242948
G Slc6a14 solute carrier family 6 member 14 JBrowse link X 120,624,522 120,647,964 RGD:1625278
G Slc9a4 solute carrier family 9 member A4 JBrowse link 9 47,281,821 47,334,755 RGD:11554173
Alkalosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:11554173
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 10 90,296,144 90,312,401 RGD:13208945
G Slc4a2 solute carrier family 4 member 2 JBrowse link 4 7,264,677 7,282,355 RGD:9999377
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Car2 carbonic anhydrase 2 JBrowse link 2 88,097,740 88,112,868 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps16 mitochondrial ribosomal protein S16 JBrowse link 15 4,351,292 4,353,694 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsfm Ts translation elongation factor, mitochondrial JBrowse link 7 70,311,948 70,319,389 RGD:7240710
RGD:8554872
Congenital Infantile Lactic Acidosis due to LAD Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dld dihydrolipoamide dehydrogenase JBrowse link 6 50,597,677 50,618,694 RGD:7240710
RGD:8554872
diabetic ketoacidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp2 aquaporin 2 JBrowse link 7 141,237,802 141,242,837 RGD:2314345
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:11554173
G Insr insulin receptor JBrowse link 12 1,682,527 1,816,414 RGD:1302526
G Pax4 paired box 4 JBrowse link 4 55,735,640 55,753,461 RGD:8554872
RGD:7240710
G Serpina7 serpin family A member 7 JBrowse link X 110,226,565 110,232,202 RGD:2312332
Distal Renal Tubular Acidosis with Hemolytic Anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 10 90,296,144 90,312,401 RGD:7240710
RGD:8554872
G Wdr72 WD repeat domain 72 JBrowse link 8 80,965,734 81,125,710 RGD:8554872
Distal Renal Tubular Acidosis with Progressive Nerve Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 JBrowse link 4 115,417,100 115,435,754 RGD:8554872
RGD:7240710
Distal Renal Tubular Acidosis, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 JBrowse link 4 65,736,585 65,821,916 RGD:7240710
RGD:8554872
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 10 90,296,144 90,312,401 RGD:13208934
G Tmem213 transmembrane protein 213 JBrowse link 4 65,800,410 65,823,205 RGD:8554872
Distal Renal Tubular Acidosis, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 JBrowse link 4 65,736,585 65,821,916 RGD:8554872
Finnish Lethal Neonatal Metabolic Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:7240710
RGD:8554872
HUPRA Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps12 mitochondrial ribosomal protein S12 JBrowse link 1 86,920,679 86,923,626 RGD:8554872
G Sars2 seryl-tRNA synthetase 2, mitochondrial JBrowse link 1 86,923,769 86,935,506 RGD:7240710
RGD:8554872
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lars2 leucyl-tRNA synthetase 2, mitochondrial JBrowse link 8 132,441,277 132,537,176 RGD:8554872
RGD:7240710
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lias lipoic acid synthetase JBrowse link 14 44,507,217 44,524,287 RGD:7240710
RGD:8554872
G Rpl9 ribosomal protein L9 JBrowse link 14 44,524,419 44,527,613 RGD:8554872
G Ugdh UDP-glucose 6-dehydrogenase JBrowse link 14 44,479,614 44,502,845 RGD:8554872
lactic acidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:11554173
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:13592920
G Pdha1 pyruvate dehydrogenase E1 alpha 1 subunit JBrowse link X 37,329,779 37,343,410 RGD:11554173
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:11554173
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:11554173
metabolic acidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dab2 DAB adaptor protein 2 JBrowse link 2 55,747,353 55,768,848 RGD:7243154
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:1625312
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:7243154
G Rhcg Rh family, C glycoprotein JBrowse link 1 141,325,854 141,349,881 RGD:8554685
G Slc38a3 solute carrier family 38, member 3 JBrowse link 8 116,406,258 116,423,752 RGD:9999224
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 10 90,296,144 90,312,401 RGD:7242944
Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a42 solute carrier family 25, member 42 JBrowse link 16 20,962,144 21,000,191 RGD:8554872
RGD:7240710
Mitochondrial Complex I Deficiency, Nuclear Type 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acad9 acyl-CoA dehydrogenase family, member 9 JBrowse link 2 122,782,051 122,806,166 RGD:7240710
RGD:8554872
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G LOC100362908 hCG20001-like JBrowse link 4 119,572,669 119,626,852 RGD:8554872
mitochondrial DNA depletion syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Suclg1 succinate-CoA ligase, alpha subunit JBrowse link 4 101,181,315 101,210,692 RGD:7240710
RGD:8554872
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla8 patatin-like phospholipase domain containing 8 JBrowse link 6 64,224,870 64,288,465 RGD:8554872
RGD:7240710
mitochondrial pyruvate carrier deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpc1 mitochondrial pyruvate carrier 1 JBrowse link 1 53,026,608 53,038,229 RGD:7240710
RGD:8554872
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc16a1 solute carrier family 16 member 1 JBrowse link 2 207,108,552 207,129,352 RGD:7240710
RGD:8554872
Myopathy with Lactic Acidosis, Hereditary term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iscu iron-sulfur cluster assembly enzyme JBrowse link 12 48,621,454 48,627,297 RGD:7240710
RGD:8554872
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc4a4 solute carrier family 4 member 4 JBrowse link 14 20,476,258 20,817,042 RGD:7240710
RGD:8554872
Pyruvate Dehydrogenase E1 Alpha Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdha1 pyruvate dehydrogenase E1 alpha 1 subunit JBrowse link X 37,329,779 37,343,410 RGD:8554872
G Pdhx pyruvate dehydrogenase complex, component X JBrowse link 3 92,910,300 92,933,725 RGD:8554872
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlat dihydrolipoamide S-acetyltransferase JBrowse link 8 55,062,549 55,087,832 RGD:7240710
RGD:8554872
G Pih1d2 PIH1 domain containing 2 JBrowse link 8 55,050,284 55,060,289 RGD:8554872
Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdhx pyruvate dehydrogenase complex, component X JBrowse link 3 92,910,300 92,933,725 RGD:8554872
RGD:7240710
Pyruvate Dehydrogenase Phosphatase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdp1 pyruvate dehyrogenase phosphatase catalytic subunit 1 JBrowse link 5 25,577,593 25,584,325 RGD:7240710
RGD:8554872
renal tubular acidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 JBrowse link 4 65,736,585 65,821,916 RGD:1599383
RGD:13592920
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 JBrowse link 4 115,417,100 115,435,754 RGD:1599372
G Ctsb cathepsin B JBrowse link 15 46,316,741 46,337,613 RGD:2315534
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 JBrowse link 7 116,248,759 116,255,205 RGD:4891416
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 10 90,296,144 90,312,401 RGD:7240710
RGD:8554872
RGD:13208945
RGD:11554173
RGD:10450481
RGD:10450480
G Slc4a4 solute carrier family 4 member 4 JBrowse link 14 20,476,258 20,817,042 RGD:61794
RGD:11554173
Renal Tubular Acidosis, Distal, with Normal Red Cell Morphology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 10 90,296,144 90,312,401 RGD:8554872
Stomatocytosis I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rhag Rh-associated glycoprotein JBrowse link 9 23,465,190 23,493,081 RGD:7240710
RGD:8554872
Stomatocytosis II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo1 piezo-type mechanosensitive ion channel component 1 JBrowse link 19 55,305,494 55,367,680 RGD:8554872
Succinyl-CoA:3-oxoacid CoA transferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Oxct1 3-oxoacid CoA transferase 1 JBrowse link 2 53,859,738 54,007,733 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Nutritional and Metabolic Diseases 4361
      disease of metabolism 4361
        Acid-Base Imbalance 72
          Achlorhydria 5
          Acidoses + 60
          Alkalosis + 5
          Stomatocytosis I 1
          Stomatocytosis II 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.