Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   RDO:0000966
 alt_id: OMIM:248360
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 ClinVar Annotator: match by term: Deficiency of malonyl-CoA decarboxylase
ClinVar Annotator: match by term: Malonic aciduria
ClinVar Annotator: match by OMIM:248360
OMIM
ClinVar
PMID:6145813 PMID:7609455 PMID:8259873 PMID:9177981 PMID:9869665 More... NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Nutritional and Metabolic Diseases 5548
      disease of metabolism 5548
        inherited metabolic disorder 2633
          Malonic Aciduria 2
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          inherited metabolic disorder 2633
            Malonic Aciduria 2
paths to the root