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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:Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
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Accession:DOID:9000050 term browser browse the term
Synonyms:exact_synonym: MCKAT deficiency
 primary_id: MESH:C566566
 alt_id: OMIM:602199


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Nutritional and Metabolic Diseases 10568
      disease of metabolism 10568
        inherited metabolic disorder 7856
          Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 0
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          inherited metabolic disorder 7856
            mitochondrial metabolism disease 1238
              Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 0
paths to the root