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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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      disease 97387
        Nutritional and Metabolic Diseases 13671
          disease of metabolism 13671
            Acid-Base Imbalance + 186
            DNA Repair-Deficiency Disorders + 1742
            Hyperlactatemia 0
            Malabsorption Syndromes + 506
            Metabolic Bone Diseases + 275
            Metabolic Brain Diseases + 1885
            Metabolic Skin Diseases + 237
            Metabolic Syndrome + 405
            Proteostasis Deficiencies + 1139
            Wasting Syndrome + 4
            Water-Electrolyte Imbalance + 117
            acquired metabolic disease + 4234
            inherited metabolic disorder + 9843
            lipid metabolism disorder + 2381
            mineral metabolism disease + 1898
            mitochondrial metabolism disease + 1246
            phosphorus metabolism disease + 604
            porphyria + 36
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