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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: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.


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 2:88,185,204...88,227,486
Ensembl chr 2:88,217,188...88,227,479
JBrowse link
G Dab2 DAB adaptor protein 2 IEP protein:decreased expression:brush border membrane RGD PMID:22357915 RGD:7243154 NCBI chr 2:55,747,353...55,768,848
Ensembl chr 2:55,747,318...55,768,270
JBrowse link
G Edn1 endothelin 1 treatment IDA RGD PMID:17255858 RGD:1625312 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Metabolic acidosis ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
JBrowse link
G Myh9 myosin, heavy chain 9 IEP protein:increased expression:brush border membrane RGD PMID:22357915 RGD:7243154 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
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 1:141,325,854...141,349,881
Ensembl chr 1:141,325,856...141,349,881
JBrowse link
G Slc38a3 solute carrier family 38, member 3 treatment IEP RGD PMID:16954343 RGD:9999224 NCBI chr 8:116,406,258...116,423,752
Ensembl chr 8:116,406,241...116,422,366
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 chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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 OMIM:610498 OMIM
ClinVar
PMID:15505824 NCBI chr15:4,351,292...4,353,694
Ensembl chr15:4,351,292...4,353,694
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: Combined oxidative phosphorylation deficiency 3 ClinVar NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:17033963, PMID:20435138, PMID:21119709, PMID:21169334, PMID:21741925, PMID:22277967, PMID:22499341, PMID:25037205, PMID:25741868, PMID:28492532 NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346
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 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
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: Maple syrup urine disease, type 3
ClinVar Annotator: match by term: LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO
ClinVar Annotator: match by OMIM:246900
OMIM
ClinVar
PMID:1347528, PMID:1640293, PMID:3769994, PMID:7797549, PMID:8506365, PMID:8652022, PMID:8968745, PMID:9298831, PMID:9540846, PMID:9764998, PMID:9934985, PMID:10448086, PMID:11687750, PMID:12925875, PMID:14765544, PMID:15712224, PMID:16442803, PMID:16601893, PMID:16770810, PMID:17404228, PMID:18362926, PMID:20652410, PMID:20672374, PMID:21558426, PMID:21930696, PMID:23290025, PMID:23478190, PMID:23995961, PMID:24516753, PMID:25251739, PMID:25356417, PMID:25741868, PMID:27290639, PMID:27544700, PMID:27896107, PMID:28492532 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
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
ClinVar Annotator: match by OMIM:603358
OMIM
ClinVar
PMID:11528392, PMID:12215968, PMID:12547234, PMID:12910490, PMID:17314340, PMID:17403714, PMID:18386115, PMID:18771761, PMID:19285991, PMID:19389488, PMID:19508421, PMID:20518024, PMID:20727375, PMID:21274865, PMID:22277166, PMID:22310368, PMID:23892085, PMID:24033266, PMID:24236502, PMID:24655110, PMID:25741868, PMID:25895478, PMID:25914718, PMID:26467025, PMID:26489029, PMID:27959697, PMID:28105683, PMID:28322498, PMID:28492532, PMID:28496993, PMID:29090881, PMID:31435670 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
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 OMIM:617021
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
ClinVar
OMIM
PMID:23541342, PMID:24033266, PMID:25741868, PMID:26537577, PMID:26970254 NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369
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: Pyruvate dehydrogenase lipoic acid synthetase deficiency
ClinVar Annotator: match by OMIM:614462
OMIM
ClinVar
PMID:2152680, PMID:22152680, PMID:24334290, PMID:26467025, PMID:27923773, PMID:28492532 NCBI chr14:44,507,217...44,524,287
Ensembl chr14:44,507,218...44,524,252
JBrowse link
G Rpl9 ribosomal protein L9 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:44,524,419...44,527,613
Ensembl chr14:44,524,416...44,527,613
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
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:63,521,033...63,625,134
Ensembl chr  X:63,520,991...63,625,134
JBrowse link
G Dnm1l dynamin 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
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 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2537010 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:25331496 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Pygl glycogen phosphorylase L IAGP DNA:mutation:multiple RGD PMID:17705025 RGD:11071447 NCBI chr 6:92,597,759...92,643,734
Ensembl chr 6:92,597,706...92,643,847
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138848 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
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 chr17:35,677,984...35,682,262
Ensembl chr17:35,677,984...35,682,259
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 (encephalomyopathic with methylmalonic aciduria)
ClinVar Annotator: match by OMIM:245400
OMIM
ClinVar
PMID:17287286, PMID:17668387, PMID:19526370, PMID:20453710, PMID:20693550, PMID:21639866, PMID:25326635, PMID:25741868, PMID:28492532, PMID:29217198 NCBI chr 4:101,181,315...101,210,692
Ensembl chr 4:101,180,404...101,210,746
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 ClinVar
OMIM
PMID:19840936, PMID:25512002, PMID:25741868, PMID:28492532 NCBI chr 6:64,224,870...64,288,465
Ensembl chr 6:64,224,861...64,286,785
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
ClinVar Annotator: match by OMIM:614741
OMIM
ClinVar
PMID:12649063, PMID:22628558 NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229
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 OMIM:255125 OMIM
ClinVar
PMID:18296749, PMID:18304497, PMID:19567699, PMID:19846308, PMID:20206689, PMID:21165651, PMID:22125086 NCBI chr12:48,621,454...48,627,297
Ensembl chr12:48,621,454...48,627,297
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:20591708, PMID:21914562, PMID:22473288, PMID:28492532 NCBI chr  X:36,930,186...37,054,968
Ensembl chr  X:36,930,186...37,003,642
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:20591708, PMID:21914562, PMID:22473288, PMID:28492532 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
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 NCBI chr  X:37,342,251...37,755,373 JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase e1-alpha deficiency
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
ClinVar PMID:1293379, PMID:1301207, PMID:1338114, PMID:1508605, PMID:1770778, PMID:1779625, PMID:1907799, PMID:1909401, PMID:1909778, PMID:2828359, PMID:3034892, PMID:3137520, PMID:7573035, PMID:7692352, PMID:7887408, PMID:7887409, PMID:8032855, PMID:8199595, PMID:8504306, PMID:8504309, PMID:8598634, PMID:8771169, PMID:8962591, PMID:9266390, PMID:9671272, PMID:9686362, PMID:10486093, PMID:10679936, PMID:10775534, PMID:11102541, PMID:11241048, PMID:12379317, PMID:12551913, PMID:15384102, PMID:17043409, PMID:18023225, PMID:18197404, PMID:20002125, PMID:20002461, PMID:20591708, PMID:20691944, PMID:21846590, PMID:21914562, PMID:22473288, PMID:23021068, PMID:23871722, PMID:24718837, PMID:25326635, PMID:25326637, PMID:25526709, PMID:25590979, PMID:25741868, PMID:26008863, PMID:26633542, PMID:26865159, PMID:26944031, PMID:27144126, PMID:27896109, PMID:28492532, PMID:28639102, PMID:28918066, PMID:30311386 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
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 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050
JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:20591708, PMID:21914562, PMID:22473288, PMID:28492532 NCBI chr  X:35,970,650...36,926,616 JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:20591708, PMID:21914562, PMID:22473288, PMID:28492532 NCBI chr  X:35,822,687...35,947,690
Ensembl chr  X:35,869,538...35,947,282
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:20591708, PMID:21914562, PMID:22473288, PMID:28492532 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
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
ClinVar Annotator: match by OMIM:245348
OMIM
ClinVar
PMID:1293379, PMID:16049940, PMID:20022530, PMID:22079328, PMID:25741868, PMID:28492532, PMID:29093066 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:16049940, PMID:28492532 NCBI chr 8:55,050,284...55,060,289
Ensembl chr 8:55,050,284...55,058,474
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 3:92,969,128...92,998,104
Ensembl chr 3:92,969,141...92,995,483
JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by OMIM:245349
ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency
ClinVar Annotator: match by term: Pyruvate dehydrogenase e3-binding protein deficiency
ClinVar Annotator: match by null
ClinVar
OMIM
PMID:8229524, PMID:8584393, PMID:9399911, PMID:9467010, PMID:11935326, PMID:12557299, PMID:16566017, PMID:17152059, PMID:21937992, PMID:25087164, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050
JBrowse link
Pyruvate Dehydrogenase Phosphatase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdp1 pyruvate dehyrogenase phosphatase catalytic subunit 1 ISO ClinVar Annotator: match by OMIM:608782
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:15855260, PMID:19184109 NCBI chr 5:25,577,593...25,584,325
Ensembl chr 5:25,577,451...25,584,288
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 chr16:20,962,144...21,000,191
Ensembl chr16:20,962,227...20,985,225
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        acquired metabolic disease 2788
          metabolic acidosis 46
            Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression 1
            lactic acidosis + 35
Path 2
Term Annotations click to browse term
  disease 16045
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        Acid-Base Imbalance 85
          Acidoses 74
            metabolic acidosis 46
              Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression 1
              lactic acidosis + 35
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.