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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;   OMIM:PS613280
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 13630
        Nutritional and Metabolic Diseases 4413
          disease of metabolism 4413
            Acid-Base Imbalance + 87
            DNA Repair-Deficiency Disorders + 775
            Hyperlactatemia 0
            Malabsorption Syndromes + 113
            Metabolic Bone Diseases + 179
            Metabolic Brain Diseases + 588
            Metabolic Skin Diseases + 34
            Metabolic Syndrome + 118
            Proteostasis Deficiencies + 337
            Wasting Syndrome + 4
            Water-Electrolyte Imbalance + 61
            acquired metabolic disease + 2203
            carbohydrate metabolism disease + 1245
            glucose metabolism disease + 1245
            inherited metabolic disorder + 2366
            lipid metabolism disorder + 819
            mineral metabolism disease + 531
            mitochondrial metabolism disease + 389
            phosphorus metabolism disease + 186
            porphyria + 20
    paths to the root