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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
 primary_id: MESH:D008659
 xref: ICD10CM:E88.9;   ICD9CM:277.9;   NCI:C3235
For additional species annotation, visit the Alliance of Genome Resources.



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  • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 18030
        Nutritional and Metabolic Diseases 6730
          disease of metabolism 6730
            Acid-Base Imbalance + 94
            DNA Repair-Deficiency Disorders + 1331
            Hyperlactatemia 0
            Malabsorption Syndromes + 195
            Metabolic Bone Diseases + 387
            Metabolic Brain Diseases + 845
            Metabolic Skin Diseases + 38
            Metabolic Syndrome + 327
            Proteostasis Deficiencies + 406
            Wasting Syndrome + 4
            Water-Electrolyte Imbalance + 68
            acquired metabolic disease + 2138
            inherited metabolic disorder + 4644
            lipid metabolism disorder + 1146
            mineral metabolism disease + 718
            mitochondrial metabolism disease + 419
            phosphorus metabolism disease + 206
            porphyria + 23
    paths to the root