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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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  • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 15726
        Nutritional and Metabolic Diseases 7466
          disease of metabolism 7466
            Acid-Base Imbalance + 154
            DNA Repair-Deficiency Disorders + 1364
            Hyperlactatemia 0
            Malabsorption Syndromes + 206
            Metabolic Bone Diseases + 194
            Metabolic Brain Diseases + 1489
            Metabolic Skin Diseases + 198
            Metabolic Syndrome + 160
            Proteostasis Deficiencies + 775
            Wasting Syndrome + 4
            Water-Electrolyte Imbalance + 99
            acquired metabolic disease + 2298
            inherited metabolic disorder + 5919
            lipid metabolism disorder + 1737
            mineral metabolism disease + 947
            mitochondrial metabolism disease + 822
            phosphorus metabolism disease + 209
            porphyria + 25
    paths to the root