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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: MIM:614265
 xref: GARD:10818;   ORDO:289504

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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 term: Combined malonic and methylmalonic acidemia OMIM
ClinVar		 PMID:9030548 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21785126 More... NCBI chrNW_004936641:700,218...736,875
Ensembl chrNW_004936641:700,187...736,941 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14501
    Nutritional and Metabolic Diseases 6812
      disease of metabolism 6812
        inherited metabolic disorder 5279
          amino acid metabolic disorder 1454
            organic acidemia 364
              combined malonic and methylmalonic acidemia 1
Path 2
Term Annotations click to browse term
  disease 14501
    Developmental Disease 12602
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11795
        genetic disease 11474
          monogenic disease 9691
            autosomal genetic disease 8981
              autosomal recessive disease 6327
                combined malonic and methylmalonic acidemia 1
paths to the root