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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:combined malonic and methylmalonic acidemia
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Accession:DOID:0111263 term browser browse the term
Definition:An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3. (DO)
Synonyms:exact_synonym: Cmamma;   combined malonic and methylmalonic aciduria
 primary_id: MESH:C580002
 alt_id: OMIM:614265;   RDO:0015871
 xref: GARD:10818;   ORDO:289504
For additional species annotation, visit the Alliance of Genome Resources.


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combined malonic and methylmalonic acidemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by OMIM:614265
ClinVar Annotator: match by term: Combined malonic and methylmalonic aciduria
OMIM
ClinVar
PMID:21785126, PMID:21841779, PMID:24033266, PMID:25741868, PMID:26827111, PMID:26915364, PMID:28492532, PMID:29555771, PMID:29858964, PMID:30041674 NCBI chr19:55,594,801...55,635,312
Ensembl chr19:55,594,831...55,635,122
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Nutritional and Metabolic Diseases 4728
      disease of metabolism 4728
        inherited metabolic disorder 2238
          amino acid metabolic disorder 433
            organic acidemia 54
              combined malonic and methylmalonic acidemia 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal recessive disease 2602
                combined malonic and methylmalonic acidemia 1
paths to the root

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