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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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    Path 1
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      disease 14316
        Nutritional and Metabolic Diseases 6969
          disease of metabolism 6969
            Acid-Base Imbalance + 148
            DNA Repair-Deficiency Disorders + 1311
            Hyperlactatemia 0
            Malabsorption Syndromes + 189
            Metabolic Bone Diseases + 184
            Metabolic Brain Diseases + 1383
            Metabolic Skin Diseases + 186
            Metabolic Syndrome + 152
            Proteostasis Deficiencies + 713
            Wasting Syndrome + 4
            Water-Electrolyte Imbalance + 91
            acquired metabolic disease + 2112
            inherited metabolic disorder + 5513
            lipid metabolism disorder + 1625
            mineral metabolism disease + 893
            mitochondrial metabolism disease + 772
            phosphorus metabolism disease + 192
            porphyria + 25
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