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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 29219
        Nutritional and Metabolic Diseases 9126
          disease of metabolism 9126
            Acid-Base Imbalance + 156
            DNA Repair-Deficiency Disorders + 1465
            Hyperlactatemia 0
            Malabsorption Syndromes + 242
            Metabolic Bone Diseases + 223
            Metabolic Brain Diseases + 1646
            Metabolic Skin Diseases + 221
            Metabolic Syndrome + 158
            Proteostasis Deficiencies + 488
            Wasting Syndrome + 4
            Water-Electrolyte Imbalance + 101
            acquired metabolic disease + 3127
            inherited metabolic disorder + 6788
            lipid metabolism disorder + 1684
            mineral metabolism disease + 1209
            mitochondrial metabolism disease + 975
            phosphorus metabolism disease + 364
            porphyria + 26
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