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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 15394
        Nutritional and Metabolic Diseases 7361
          disease of metabolism 7361
            Acid-Base Imbalance + 152
            DNA Repair-Deficiency Disorders + 1350
            Hyperlactatemia 0
            Malabsorption Syndromes + 201
            Metabolic Bone Diseases + 191
            Metabolic Brain Diseases + 1476
            Metabolic Skin Diseases + 194
            Metabolic Syndrome + 156
            Proteostasis Deficiencies + 768
            Wasting Syndrome + 4
            Water-Electrolyte Imbalance + 98
            acquired metabolic disease + 2257
            inherited metabolic disorder + 5825
            lipid metabolism disorder + 1714
            mineral metabolism disease + 931
            mitochondrial metabolism disease + 801
            phosphorus metabolism disease + 201
            porphyria + 25
    paths to the root