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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:Acetyl-Coa Carboxylase Deficiency
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Accession:DOID:9000701 term browser browse the term
Synonyms:exact_synonym: ACACA Deficiency;   ACACAD;   ACC1 Deficiency
 primary_id: MESH:C562678;   RDO:0012285
 alt_id: OMIM:613933
For additional species annotation, visit the Alliance of Genome Resources.



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Acetyl-Coa Carboxylase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: ACACA DEFICIENCY | ClinVar Annotator: match by term: Acetyl-CoA carboxylase deficiency OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    Nutritional and Metabolic Diseases 6817
      disease of metabolism 6817
        lipid metabolism disorder 1178
          Acetyl-Coa Carboxylase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        genetic disease 11373
          inherited metabolic disorder 4718
            lipid metabolism disorder 1178
              Acetyl-Coa Carboxylase Deficiency 1
paths to the root