ONTOLOGY REPORT - ANNOTATIONS


Term:methylmalonic acidemia
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Accession:DOID:14749 term browser browse the term
Definition:An organic acidemia that involves an accumulation of methylmalonic acid in the blood. (DO)
Synonyms:exact_synonym: METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency;   Methylmalonic Aciduria;   isolated methylmalonic acidemia
 primary_id: MESH:C537358
 alt_id: RDO:0003189
 xref: GARD:7033
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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

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
            methylmalonic acidemia 31
              Methylmalonic Aciduria and Homocystinuria, cblJ Type 1
              methylmalonic acidemia cblA type 1
              methylmalonic acidemia cblB type 2
              methylmalonic acidemia due to transcobalamin receptor defect 1
              methylmalonic aciduria and homocystinuria type cblC 7
              methylmalonic aciduria and homocystinuria type cblD 1
              methylmalonic aciduria and homocystinuria type cblE 0
              methylmalonic aciduria and homocystinuria type cblF 1
              methylmalonic aciduria and homocystinuria type cblG 1
              methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 8
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
                methylmalonic acidemia 31
                  Methylmalonic Aciduria and Homocystinuria, cblJ Type 1
                  methylmalonic acidemia cblA type 1
                  methylmalonic acidemia cblB type 2
                  methylmalonic acidemia due to transcobalamin receptor defect 1
                  methylmalonic aciduria and homocystinuria type cblC 7
                  methylmalonic aciduria and homocystinuria type cblD 1
                  methylmalonic aciduria and homocystinuria type cblE 0
                  methylmalonic aciduria and homocystinuria type cblF 1
                  methylmalonic aciduria and homocystinuria type cblG 1
                  methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 8
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.