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ONTOLOGY REPORT - ANNOTATIONS
Term:metabolic acidosis
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Accession:DOID:0050758 term browser browse the term
Definition:A pathologic condition of acid accumulation or depletion of base in the body. It may be acute or chronic.
Synonyms:exact_synonym: metabolic acidoses
 primary_id: RDO:9000048
 alt_id: DOID:9002632
For additional species annotation, visit the Alliance of Genome Resources.

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metabolic acidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Car1 carbonic anhydrase 1 JBrowse link 2 88,185,204 88,227,486 RGD:8554872
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
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
GRACILE 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
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 subunit alpha 1 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 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:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha 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
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
Pyruvate Dehydrogenase E1 Alpha Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        acquired metabolic disease 2691
          metabolic acidosis 31
            Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression 1
            lactic acidosis + 23
Path 2
Term Annotations click to browse term
  disease 15489
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        Acid-Base Imbalance 72
          Acidoses 60
            metabolic acidosis 31
              Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression 1
              lactic acidosis + 23
paths to the root

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