ONTOLOGY REPORT - ANNOTATIONS

Term:Acidosis
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Accession:RDO:0003385 term browser browse the term
Definition:A pathologic condition of acid accumulation or depletion of base in the body. The two main types are RESPIRATORY ACIDOSIS and metabolic acidosis, due to metabolic acid build up.
Synonyms:exact_synonym: Acidoses;   Metabolic Acidoses;   Metabolic Acidosis
 primary_id: MESH:D000138

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Acidosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Adm adrenomedullin GBrowse link IED 1 168,380,255 168,382,426 RGD:1625312 RGD
G Amt aminomethyltransferase Induced IED RGD:1599107 RGD
G Cldn14 claudin 14 GBrowse link IEP 11 34,142,138 34,151,928 RGD:1600867 RGD
G Cps1 carbamoyl-phosphate synthetase 1 GBrowse link IEP 9 65,907,211 66,017,942 RGD:4144071 RGD
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 IED RGD:2307324 RGD
G Dab2 disabled 2, mitogen-responsive phosphoprotein GBrowse link IEP 2 55,714,874 55,736,370 RGD:7243154 RGD
G Gss glutathione synthetase GBrowse link ISS 3 146,057,517 146,087,820 RGD:1302516 RGD
G Hadhb hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit GBrowse link ISS 6 26,139,397 26,173,428 RGD:1600788 RGD
G Otc ornithine carbamoyltransferase GBrowse link IEP X 24,609,141 24,685,341 RGD:4144071 RGD
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 GBrowse link ISS 17 15,262,929 15,277,902 RGD:7242948 RGD
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 GBrowse link IEP 17 15,262,929 15,277,902 RGD:7242944 RGD
G Slc6a14 solute carrier family 6 (amino acid transporter), member 14 GBrowse link IEP X 12,048,993 12,072,434 RGD:1625278 RGD
Acidosis, Renal Tubular term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Atp6v0a4 ATPase, H+ transporting, lysosomal V0 subunit A4 GBrowse link Susceptibility ISS 4 65,588,970 65,671,150 RGD:1599383 RGD
G Atp6v1b1 ATPase, H transporting, lysosomal V1 subunit B1 GBrowse link Susceptibility ISS 4 117,931,972 117,950,626 RGD:1599372 RGD
G Ctsb cathepsin B GBrowse link IEP 15 42,402,829 42,423,701 RGD:2315534 RGD
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 GBrowse link IEP 7 113,043,365 113,049,779 RGD:4891416 RGD
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 GBrowse link ISS 10 91,454,824 91,471,072 RGD:7240710 OMIM
G Slc4a4 solute carrier family 4, sodium bicarbonate cotransporter, member 4 GBrowse link Susceptibility ISS 14 20,381,545 20,739,216 RGD:61794 RGD
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Acad9 acyl-CoA dehydrogenase family, member 9 GBrowse link ISS 2 122,562,974 122,585,953 RGD:7240710 OMIM
Autosomal dominant distal renal tubular acidosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 GBrowse link ISS 10 91,454,824 91,471,072 RGD:7240710 OMIM
Combined Oxidative Phosphorylation Deficiency 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mrps16 mitochondrial ribosomal protein S16 GBrowse link ISS 15 4,147,260 4,149,662 RGD:7240710 OMIM
Combined Oxidative Phosphorylation Deficiency 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tufm Tu translation elongation factor, mitochondrial GBrowse link ISS 1 185,631,333 185,634,940 RGD:7240710 OMIM
Diabetic Ketoacidosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Aqp2 aquaporin 2 (collecting duct) GBrowse link ISS 7 138,325,855 138,330,891 RGD:2314345 RGD
G Insr insulin receptor GBrowse link ISS 12 2,934,967 3,087,691 RGD:1302526 RGD
G Serpina7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 GBrowse link ISS X 126,739,203 126,744,763 RGD:2312332 RGD
Finnish lethal neonatal metabolic syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Bcs1l BC1 (ubiquinol-cytochrome c reductase) synthesis-like GBrowse link ISS 9 73,939,024 73,943,055 RGD:7240710 OMIM
Ketosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
S BBDP/WorN Onset IED RGD:1578691 RGD
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Suclg1 succinate-CoA ligase, alpha subunit GBrowse link ISS 4 106,572,140 106,601,495 RGD:7240710 OMIM
Myopathy with Lactic Acidosis, Hereditary term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Iscu iron-sulfur cluster scaffold homolog (E. coli) GBrowse link ISS 12 43,886,419 43,892,329 RGD:7240710 OMIM
Osteopetrosis with renal tubular acidosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ca2 carbonic anhydrase 2 GBrowse link ISS 2 88,077,095 88,092,223 RGD:7240710 OMIM
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dlat dihydrolipoamide S-acetyltransferase GBrowse link ISS 8 53,989,491 54,014,779 RGD:7240710 OMIM
Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pdx1 pancreatic and duodenal homeobox 1 ISS RGD:7240710 OMIM
Pyruvate dehydrogenase phosphatase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pdp1 pyruvate dehyrogenase phosphatase catalytic subunit 1 GBrowse link ISS 5 26,234,414 26,240,301 RGD:7240710 OMIM
Renal tubular acidosis, distal, autosomal recessive term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Atp6v0a4 ATPase, H+ transporting, lysosomal V0 subunit A4 GBrowse link ISS 4 65,588,970 65,671,150 RGD:7240710 OMIM
Renal Tubular Acidosis, Distal, With Hemolytic Anemia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 GBrowse link ISS 10 91,454,824 91,471,072 RGD:7240710 OMIM
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc4a4 solute carrier family 4, sodium bicarbonate cotransporter, member 4 GBrowse link ISS 14 20,381,545 20,739,216 RGD:7240710 OMIM
G Slc4a5 solute carrier family 4, sodium bicarbonate cotransporter, member 5 GBrowse link ISS 4 117,432,385 117,515,453 RGD:7240710 OMIM
Succinyl-CoA:3-oxoacid CoA transferase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Oxct1 3-oxoacid CoA transferase 1 GBrowse link ISS 2 53,189,358 53,217,848 RGD:7240710 OMIM
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  Diseases 30711
    Nutritional and Metabolic Diseases 5312
      Metabolic Diseases 4690
        Acid-Base Imbalance 44
          Acidosis 38
            Acidosis, Lactic + 8
            Acidosis, Renal Tubular + 12
            Acidosis, Respiratory 0
            Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of 1
            Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis 0
            Ketosis + 4
            Succinyl-CoA:3-oxoacid CoA transferase deficiency 1
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