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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 15388
        Nutritional and Metabolic Diseases 7361
          disease of metabolism 7361
            Acid-Base Imbalance + 148
            DNA Repair-Deficiency Disorders + 1375
            Hyperlactatemia 0
            Malabsorption Syndromes + 202
            Metabolic Bone Diseases + 192
            Metabolic Brain Diseases + 1485
            Metabolic Skin Diseases + 196
            Metabolic Syndrome + 159
            Proteostasis Deficiencies + 747
            Wasting Syndrome + 4
            Water-Electrolyte Imbalance + 99
            acquired metabolic disease + 2207
            inherited metabolic disorder + 5834
            lipid metabolism disorder + 1705
            mineral metabolism disease + 936
            mitochondrial metabolism disease + 807
            phosphorus metabolism disease + 205
            porphyria + 26
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