Human Phenotype Ontology 
Grandparent Node:
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Abnormal circulating dicarboxylic acid concentration (HP:0010995)help
Grandparent Node:
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Organic aciduria (HP:0001992)help
Parent Node:
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Dicarboxylic aciduria (HP:0003215)help
..Starting node
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Methylmalonic aciduria (HP:0012120)help
Term ID: 12120
Name: Methylmalonic aciduria
Synonym: High blood methylmalonic acid levels; Methymalonicaciduria
Definition: Increased concentration of methylmalonic acid in the urine.
Comments:
Reference: HP:0012120
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expand3-hydroxydicarboxylic aciduria (HP:0008160) help
..expandD-2-hydroxyglutaric aciduria (HP:0012321) help
..expandEthylmalonic aciduria (HP:0003219) help
..expandGlutaric aciduria (HP:0003150) help
..expandIncreased level of 3-hydroxy-3-methylglutaric acid in urine (HP:0410051) help
..expandL-2-hydroxyglutaric aciduria (HP:0040144) help
..expandLong-chain dicarboxylic aciduria (HP:0008293) help
..expandMedium chain dicarboxylic aciduria (HP:0008309) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012120HP:0012120Methylmalonic aciduria0ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM1813868603214
HP:0012120HP:0012120Methylmalonic aciduria0ACSF3 CL E G H197322614265Combined malonic and methylmalonic aciduria614265C3280314OMIM12227827288614245
HP:0012120HP:0012120Methylmalonic aciduria0CD320 CL E G H51293613646Methylmalonic aciduria due to transcobalamin receptor defect613646C3150900OMIM134816692606475
HP:0012120HP:0012120Methylmalonic aciduria0HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM1184864839300019
HP:0012120HP:0012120Methylmalonic aciduria0LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM1910423038612625
HP:0012120HP:0012120Methylmalonic aciduria0MCEE CL E G H84693251120Methylmalonyl-CoA epimerase deficiency251120C1855100OMIM144916732608419
HP:0012120HP:0012120Methylmalonic aciduria0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM17626318871607481
HP:0012120HP:0012120Methylmalonic aciduria0MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM14225619331607568
HP:0012120HP:0012120Methylmalonic aciduria0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0012120HP:0012120Methylmalonic aciduria0MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM11411425221611935
HP:0012120HP:0012120Methylmalonic aciduria0MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM14407526609058
HP:0012120HP:0012120Methylmalonic aciduria0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0012120HP:0012120Methylmalonic aciduria0SUCLA2 CL E G H88031933ORPHA12918911448603921
HP:0012120HP:0012120Methylmalonic aciduria0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM12918911448603921
HP:0012120HP:0012120Methylmalonic aciduria0SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM12812011449611224
HP:0012120HP:0012120Methylmalonic aciduria0TCN2 CL E G H6948859ORPHA14120811653613441
HP:0012120HP:0012120Methylmalonic aciduria0TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM14120811653613441
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (15) :ABCD4 ACSF3 CD320 HCFC1 LMBRD1 MCEE MMAA MMAB MMACHC MMADHC MMUT PRDX1 SUCLA2 SUCLG1 TCN2

Diseases (16) :614857 614265 613646 309541 277380 251120 251100 251110 277400 277410 251000 1933 612073 245400 859 275350
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.