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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:metabolic acidosis
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Accession:DOID:0050758 term browser browse the term
Definition:An acquired metabolic disease that characterized by excessive production of acid. (DO)
Synonyms:exact_synonym: metabolic acidoses
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
metabolic acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car1 carbonic anhydrase 1 ISO ClinVar Annotator: match by term: Metabolic acidosis ClinVar PMID:25741868 NCBI chr 2:86,829,436...86,872,209
Ensembl chr 2:86,861,897...86,872,208
JBrowse link
G Dab2 DAB adaptor protein 2 IEP protein:decreased expression:brush border membrane RGD PMID:22357915 RGD:7243154 NCBI chr 2:55,514,692...55,567,476
Ensembl chr 2:55,514,700...55,567,476
JBrowse link
G Edn1 endothelin 1 treatment IDA RGD PMID:17255858 RGD:1625312 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Metabolic acidosis ClinVar PMID:25741868 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
JBrowse link
G Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 IMP compared to SS/JrHsdMcwi RGD PMID:30605394 RGD:38500203 NCBI chr10:95,990,009...96,021,356
Ensembl chr10:95,960,725...96,021,702
JBrowse link
G Kcnj16em1Mcwi potassium inwardly-rectifying channel, subfamily J, member 16; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP compared to SS/JrHsdMcwi RGD PMID:30605394 RGD:38500203
G Myh9 myosin, heavy chain 9 IEP protein:increased expression:brush border membrane RGD PMID:22357915 RGD:7243154 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
G Rhcg Rh family, C glycoprotein IEP protein:increased expression:medulla, kidney collecting duct intercalated cell RGD PMID:16144966 RGD:8554685 NCBI chr 1:133,531,704...133,555,902
Ensembl chr 1:133,531,716...133,555,876
JBrowse link
G Slc38a3 solute carrier family 38, member 3 treatment IEP RGD PMID:16954343 RGD:9999224 NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) IEP protein:increased expression:renal cortex, renal medulla (rat) RGD PMID:19439519 RGD:7242944 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
combined oxidative phosphorylation deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps16 mitochondrial ribosomal protein S16 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 OMIM
ClinVar
PMID:15505824 NCBI chr15:3,918,621...3,921,024
Ensembl chr15:3,918,615...3,921,656
JBrowse link
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avil advillin ISO ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ClinVar PMID:25741868 NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 OMIM
ClinVar
PMID:17033963 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 More... NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
JBrowse link
Congenital Infantile Lactic Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar PMID:32581362 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380
JBrowse link
G Pet100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar PMID:25293719 PMID:25741868 NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540
JBrowse link
G Ppp1r12b protein phosphatase 1, regulatory subunit 12B ISO ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar NCBI chr13:46,199,418...46,397,108
Ensembl chr13:46,201,251...46,397,108
JBrowse link
Congenital Infantile Lactic Acidosis due to LAD Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III | ClinVar Annotator: match by term: Maple syrup urine disease, type 3 OMIM
ClinVar
PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 More... NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
JBrowse link
diabetic ketoacidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp2 aquaporin 2 ISO RGD PMID:12021537 RGD:2314345 NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:11430560 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Insr insulin receptor ISO RGD PMID:15254588 RGD:1302526 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
G Pax4 paired box 4 susceptibility ISO ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone, susceptibility to OMIM
ClinVar
PMID:15509590 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408
JBrowse link
G Serpina7 serpin family A member 7 ISO protein:decreased expression:serum RGD PMID:6768790 RGD:2312332 NCBI chr  X:102,663,242...102,722,319
Ensembl chr  X:102,663,405...102,669,040
JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: GRACILE syndrome OMIM
ClinVar
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia OMIM
ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 8:123,010,271...123,108,957
Ensembl chr 8:123,010,293...123,106,395
JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lias lipoic acid synthetase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency OMIM
ClinVar
PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 More... NCBI chr14:42,876,699...42,893,824
Ensembl chr14:42,876,699...42,893,783
JBrowse link
G Rpl9 ribosomal protein L9 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,893,945...42,897,140
Ensembl chr14:42,893,942...42,897,136
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354
JBrowse link
lactic acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoo apolipoprotein O ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar NCBI chr  X:59,157,971...59,262,940
Ensembl chr  X:59,158,049...59,262,940
JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:25741868 NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
JBrowse link
G Dnm1l dynamin 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Seizures and lactic acidosis ClinVar PMID:8739943 PMID:12915481 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Seizures and lactic acidosis ClinVar PMID:8739943 PMID:12915481 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISS MouseDO NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:25741868 PMID:33093004 NCBI chr 2:45,951,327...46,061,829
Ensembl chr 2:45,951,313...46,061,846
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2537010 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:25331496 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Pygl glycogen phosphorylase L IAGP DNA:mutation:multiple RGD PMID:17705025 RGD:11071447 NCBI chr 6:88,697,598...88,740,260
Ensembl chr 6:88,697,593...88,740,310
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138848 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
JBrowse link
G Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:31883641 NCBI chr17:33,977,908...33,982,478
Ensembl chr17:33,977,921...33,982,479
JBrowse link
mitochondrial DNA depletion syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 OMIM
ClinVar
PMID:17287286 PMID:17668387 PMID:19526370 PMID:20197121 PMID:20453710 More... NCBI chr 4:105,308,236...105,337,595
Ensembl chr 4:105,308,039...105,337,600
JBrowse link
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla8 patatin-like phospholipase domain containing 8 ISO ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis OMIM
ClinVar
PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:34782754 NCBI chr 6:61,329,810...61,391,736
Ensembl chr 6:61,329,810...61,391,734
JBrowse link
mitochondrial pyruvate carrier deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency OMIM
ClinVar
PMID:12649063 PMID:22628558 PMID:25741868 NCBI chr 1:52,437,745...52,449,369
Ensembl chr 1:52,437,741...52,449,400
JBrowse link
Myopathy with Lactic Acidosis, Hereditary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iscu iron-sulfur cluster assembly enzyme ISO ClinVar Annotator: match by term: Myopathy with lactic acidosis, hereditary OMIM
ClinVar
PMID:18296749 PMID:18304497 PMID:19567699 PMID:19846308 PMID:20206689 More... NCBI chr12:42,852,305...42,858,150
Ensembl chr12:42,852,305...42,858,150
JBrowse link
Pyruvate Dehydrogenase E1 Alpha Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:34,713,150...34,859,054
Ensembl chr  X:34,713,175...34,858,807
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:1293379 PMID:1301207 PMID:1338114 PMID:1508605 PMID:1770778 More... NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311
JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:89,372,472...89,396,759
Ensembl chr 3:89,371,497...89,431,773
JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:34,170,959...34,293,498
Ensembl chr  X:34,171,323...34,293,466
JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:33,994,503...34,151,704
Ensembl chr  X:34,021,350...34,151,701
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:33,963,657...33,992,115
Ensembl chr  X:33,963,657...33,992,115
JBrowse link
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:28492532 NCBI chr  X:34,877,862...35,223,013
Ensembl chr  X:34,877,866...35,222,747
JBrowse link
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency OMIM
ClinVar
PMID:9536098 PMID:16049940 PMID:16199547 PMID:17576681 PMID:25741868 More... NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:9536098 PMID:16049940 PMID:17576681 PMID:28492532 NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
JBrowse link
Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apip APAF1 interacting protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency ClinVar NCBI chr 3:89,431,973...89,457,999
Ensembl chr 3:89,432,037...89,458,340
JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency OMIM
ClinVar
PMID:8229524 PMID:8584393 PMID:9399911 PMID:9467010 PMID:11935326 More... NCBI chr 3:89,372,472...89,396,759
Ensembl chr 3:89,371,497...89,431,773
JBrowse link
Pyruvate Dehydrogenase Phosphatase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500
JBrowse link
G Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency OMIM
ClinVar
PMID:15855260 PMID:19184109 PMID:25741868 PMID:31392110 NCBI chr 5:25,446,843...25,455,107
Ensembl chr 5:25,446,272...25,455,217
JBrowse link
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a42 solute carrier family 25, member 42 ISO ClinVar Annotator: match by term: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression OMIM
ClinVar
PMID:25741868 PMID:26541337 PMID:29327420 PMID:29923093 PMID:30237576 NCBI chr16:19,213,914...19,251,990
Ensembl chr16:19,213,950...19,237,025
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Nutritional and Metabolic Diseases 6747
      disease of metabolism 6747
        acquired metabolic disease 2143
          metabolic acidosis 58
            Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression 1
            alcoholic ketoacidosis 0
            diabetic ketoacidosis 5
            lactic acidosis + 41
Path 2
Term Annotations click to browse term
  disease 18109
    Nutritional and Metabolic Diseases 6747
      disease of metabolism 6747
        Acid-Base Imbalance 94
          Acidoses 84
            metabolic acidosis 58
              Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression 1
              alcoholic ketoacidosis 0
              diabetic ketoacidosis 5
              lactic acidosis + 41
paths to the root