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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:disease of metabolism
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Accession:DOID:0014667 term browser browse the term
Definition:A disease that involving errors in metabolic processes of building or degradation of molecules. (DO)
Synonyms:exact_synonym: metabolic disease;   metabolic diseases;   thesaurismoses;   thesaurismosis
 narrow_synonym: metabolic toxicity
 primary_id: MESH:D008659
 xref: EFO:0000589;   EFO:0011054;   ICD10CM:E88.9;   ICD9CM:277.9;   NCI:C3235



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  • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 18976
        Nutritional and Metabolic Diseases 8269
          disease of metabolism 8269
            Acid-Base Imbalance + 150
            DNA Repair-Deficiency Disorders + 1339
            Hyperlactatemia 0
            Malabsorption Syndromes + 214
            Metabolic Bone Diseases + 387
            Metabolic Brain Diseases + 1512
            Metabolic Skin Diseases + 200
            Metabolic Syndrome + 363
            Proteostasis Deficiencies + 794
            Wasting Syndrome + 4
            Water-Electrolyte Imbalance + 106
            acquired metabolic disease + 2483
            inherited metabolic disorder + 6283
            lipid metabolism disorder + 1754
            mineral metabolism disease + 921
            mitochondrial metabolism disease + 816
            phosphorus metabolism disease + 211
            porphyria + 26
    paths to the root