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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:Malonic Aciduria
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Accession:DOID:9005126 term browser browse the term
Synonyms:exact_synonym: DEFICIENCY OF MALONYL-COA DECARBOXYLASE;   Malonicaciduria;   Malonyl-CoA decarboxylase deficiency;   Malonyl-Coenzyme A Decarboxylase Deficiency
 primary_id: MESH:C535702
 alt_id: MIM:248360


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Malonic Aciduria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21841779 NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553 		JBrowse link
G Mlycd malonyl-CoA decarboxylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deficiency of malonyl-CoA decarboxylase | ClinVar Annotator: match by term: Malonic aciduria		 OMIM
CTD
ClinVar		 PMID:6145813 PMID:7609455 PMID:8259873 PMID:9177981 PMID:9536098 More... NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793 		JBrowse link
G Necab2 N-terminal EF-hand calcium binding protein 2 ISO ClinVar Annotator: match by term: Deficiency of malonyl-CoA decarboxylase ClinVar PMID:12955715 PMID:17186413 PMID:28492532 NCBI chr19:47,501,351...47,527,722
Ensembl chr19:47,501,302...47,527,684 		JBrowse link
G Osgin1 oxidative stress induced growth inhibitor 1 ISO ClinVar Annotator: match by term: Deficiency of malonyl-CoA decarboxylase ClinVar PMID:12955715 PMID:17186413 PMID:28492532 NCBI chr19:47,471,750...47,500,517
Ensembl chr19:47,492,171...47,500,516 		JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Deficiency of malonyl-CoA decarboxylase ClinVar PMID:12955715 PMID:17186413 PMID:28492532 NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    Nutritional and Metabolic Diseases 8522
      disease of metabolism 8522
        inherited metabolic disorder 6608
          Malonic Aciduria 5
Path 2
Term Annotations click to browse term
  disease 19047
    Developmental Disease 14521
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13535
        genetic disease 13198
          inherited metabolic disorder 6608
            Malonic Aciduria 5
paths to the root