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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 16465
        Nutritional and Metabolic Diseases 6781
          disease of metabolism 6781
            Acid-Base Imbalance + 135
            DNA Repair-Deficiency Disorders + 1250
            Hyperlactatemia 0
            Malabsorption Syndromes + 188
            Metabolic Bone Diseases + 190
            Metabolic Brain Diseases + 1390
            Metabolic Skin Diseases + 194
            Metabolic Syndrome + 155
            Proteostasis Deficiencies + 711
            Wasting Syndrome + 4
            Water-Electrolyte Imbalance + 93
            acquired metabolic disease + 2142
            inherited metabolic disorder + 5212
            lipid metabolism disorder + 1484
            mineral metabolism disease + 927
            mitochondrial metabolism disease + 770
            phosphorus metabolism disease + 195
            porphyria + 24
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