ONTOLOGY REPORT - ANNOTATIONS


Term:organic acidemia
go back to main search page
Accession:DOID:0060159 term browser browse the term
Definition:An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. (DO)
Synonyms:exact_synonym: organic acid metabolism disorder;   organic aciduria
 primary_id: RDO:9003113
 xref: GARD:9433
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
3-methylglutaconic aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Auh AU RNA binding methylglutaconyl-CoA hydratase JBrowse link 17 12,310,178 12,405,224 RGD:8554872
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 JBrowse link 2 120,503,093 120,531,782 RGD:8554872
3-methylglutaconic aciduria type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Auh AU RNA binding methylglutaconyl-CoA hydratase JBrowse link 17 12,310,178 12,405,224 RGD:7240710
RGD:8554872
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:7240710
RGD:8554872
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 JBrowse link 2 120,503,093 120,531,782 RGD:7240710
RGD:8554872
3-methylglutaconic aciduria type IX term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timm50 translocase of inner mitochondrial membrane 50 JBrowse link 1 85,470,810 85,480,813 RGD:8554872
RGD:7240710
3-methylglutaconic aciduria type VIII term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra2 HtrA serine peptidase 2 JBrowse link 4 113,883,671 113,886,833 RGD:8554872
RGD:7240710
G Loxl3 lysyl oxidase-like 3 JBrowse link 4 113,866,782 113,883,713 RGD:8554872
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clpb ClpB homolog, mitochondrial AAA ATPase chaperonin JBrowse link 1 166,739,372 166,866,095 RGD:7240710
RGD:8554872
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serac1 serine active site containing 1 JBrowse link 1 46,934,499 46,978,264 RGD:7240710
RGD:8554872
Barth syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Fkbp1a FKBP prolyl isomerase 1A JBrowse link 3 147,042,944 147,062,725 RGD:13592920
G Mest mesoderm specific transcript JBrowse link 4 58,052,786 58,063,227 RGD:13592920
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:7240710
RGD:8554872
RGD:11554173
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
isovaleric acidemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ivd isovaleryl-CoA dehydrogenase JBrowse link 3 110,669,355 110,689,789 RGD:7240710
RGD:8554872
maple syrup urine disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcat2 branched chain amino acid transaminase 2 JBrowse link 1 101,553,900 101,572,103 RGD:1300291
RGD:11554173
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide JBrowse link 1 82,423,291 82,452,094 RGD:737779
RGD:8554872
RGD:7240710
RGD:734637
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta JBrowse link 8 91,464,229 91,656,134 RGD:1599466
RGD:8554872
RGD:7240710
G Dbt dihydrolipoamide branched chain transacylase E2 JBrowse link 2 219,563,783 219,592,651 RGD:7240710
RGD:8554872
G Dld dihydrolipoamide dehydrogenase JBrowse link 6 50,597,677 50,618,694 RGD:8554872
RGD:13592920
G Lamb1 laminin subunit beta 1 JBrowse link 6 50,528,796 50,596,593 RGD:8554872
G Ppm1k protein phosphatase, Mg2+/Mn2+ dependent, 1K JBrowse link 4 88,694,395 88,721,374 RGD:8554872
RGD:7240710
Maple Syrup Urine Disease, Type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide JBrowse link 1 82,423,291 82,452,094 RGD:8554872
Maple Syrup Urine Disease, Type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta JBrowse link 8 91,464,229 91,656,134 RGD:8554872
Maple Syrup Urine Disease, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dbt dihydrolipoamide branched chain transacylase E2 JBrowse link 2 219,563,783 219,592,651 RGD:8554872
methylmalonic acidemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acsf3 acyl-CoA synthetase family member 3 JBrowse link 19 55,594,801 55,635,312 RGD:11554173
G Cavin1 caveolae associated protein 1 JBrowse link 10 88,862,513 88,874,495 RGD:11554173
G Crabp2 cellular retinoic acid binding protein 2 JBrowse link 2 187,322,416 187,326,794 RGD:11554173
G Cycs cytochrome c, somatic JBrowse link 4 80,331,226 80,333,326 RGD:11554173
G Gpd2 glycerol-3-phosphate dehydrogenase 2 JBrowse link 3 43,223,892 43,359,069 RGD:11554173
G Mcee methylmalonyl CoA epimerase JBrowse link 1 125,229,487 125,252,692 RGD:8554872
G Mmaa metabolism of cobalamin associated A JBrowse link 19 32,294,087 32,325,927 RGD:8554872
G Mmab metabolism of cobalamin associated B JBrowse link 12 47,920,712 47,935,438 RGD:8554872
G Mmadhc metabolism of cobalamin associated D JBrowse link 3 35,783,511 35,801,474 RGD:8554872
G Mmut methylmalonyl-CoA mutase JBrowse link 9 23,323,934 23,352,144 RGD:11554173
RGD:8554872
G Mvk mevalonate kinase JBrowse link 12 47,904,266 47,920,457 RGD:8554872
G Sept11 septin 11 JBrowse link 14 16,369,544 16,405,645 RGD:11554173
G Sept2 septin 2 JBrowse link 9 100,624,876 100,658,053 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Suclg2 succinate-CoA ligase, GDP-forming, beta subunit JBrowse link 4 127,552,100 127,824,970 RGD:11554173
methylmalonic acidemia cblA type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmaa metabolism of cobalamin associated A JBrowse link 19 32,294,087 32,325,927 RGD:7240710
RGD:8554872
methylmalonic acidemia cblB type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmab metabolism of cobalamin associated B JBrowse link 12 47,920,712 47,935,438 RGD:7240710
RGD:8554872
G Mvk mevalonate kinase JBrowse link 12 47,904,266 47,920,457 RGD:8554872
methylmalonic acidemia due to transcobalamin receptor defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd320 CD320 molecule JBrowse link 7 18,700,445 18,706,244 RGD:7240710
RGD:8554872
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Mmachc metabolism of cobalamin associated C JBrowse link 5 135,555,587 135,561,723 RGD:7240710
RGD:8554872
G Msh6 mutS homolog 6 JBrowse link 6 11,644,565 11,662,389 RGD:8554872
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 19 19,342,061 19,389,366 RGD:8554872
G Prdx1 peroxiredoxin 1 JBrowse link 5 135,536,413 135,551,986 RGD:8554872
RGD:7240710
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
methylmalonic aciduria and homocystinuria type cblD term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmadhc metabolism of cobalamin associated D JBrowse link 3 35,783,511 35,801,474 RGD:7240710
RGD:8554872
methylmalonic aciduria and homocystinuria type cblF term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbrd1 LMBR1 domain containing 1 JBrowse link 9 30,939,555 31,038,381 RGD:7240710
RGD:8554872
methylmalonic aciduria and homocystinuria type cblG term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:7240710
RGD:8554872
Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd4 ATP binding cassette subfamily D member 4 JBrowse link 6 108,315,026 108,329,550 RGD:7240710
RGD:8554872
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 10 73,507,009 73,632,742 RGD:8554872
G Kcnh2 potassium voltage-gated channel subfamily H member 2 JBrowse link 4 7,355,066 7,387,282 RGD:8554872
G Man2b1 mannosidase, alpha, class 2B, member 1 JBrowse link 19 26,196,797 26,216,981 RGD:8554872
G Mmaa metabolism of cobalamin associated A JBrowse link 19 32,294,087 32,325,927 RGD:8554872
G Mmachc metabolism of cobalamin associated C JBrowse link 5 135,555,587 135,561,723 RGD:8554872
G Mmut methylmalonyl-CoA mutase JBrowse link 9 23,323,934 23,352,144 RGD:7240710
RGD:8554872
RGD:13208535
RGD:13208534
RGD:11526224
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
propionic acidemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ggact gamma-glutamylamine cyclotransferase JBrowse link 15 109,307,683 109,336,779 RGD:8554872
G Pcca propionyl-CoA carboxylase subunit alpha JBrowse link 15 108,960,509 109,306,879 RGD:7240710
RGD:8554872
G Pccb propionyl-CoA carboxylase subunit beta JBrowse link 8 109,368,887 109,418,871 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          amino acid metabolic disorder 337
            organic acidemia 54
              3-methylglutaconic aciduria + 12
              isovaleric acidemia 1
              maple syrup urine disease + 7
              methylmalonic acidemia + 31
              propionic acidemia + 3
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            amino acid metabolic disorder 337
              organic acidemia 54
                3-methylglutaconic aciduria + 12
                isovaleric acidemia 1
                maple syrup urine disease + 7
                methylmalonic acidemia + 31
                propionic acidemia + 3
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.