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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 21086
        Nutritional and Metabolic Diseases 8107
          disease of metabolism 8103
            Acid-Base Imbalance + 151
            DNA Repair-Deficiency Disorders + 1328
            Hyperlactatemia 0
            Malabsorption Syndromes + 218
            Metabolic Bone Diseases + 394
            Metabolic Brain Diseases + 1464
            Metabolic Skin Diseases + 196
            Metabolic Syndrome + 336
            Proteostasis Deficiencies + 466
            Wasting Syndrome + 4
            Water-Electrolyte Imbalance + 104
            acquired metabolic disease + 2490
            inherited metabolic disorder + 6166
            lipid metabolism disorder + 1703
            mineral metabolism disease + 976
            mitochondrial metabolism disease + 813
            phosphorus metabolism disease + 212
            porphyria + 23
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