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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 14538
        Nutritional and Metabolic Diseases 4723
          disease of metabolism 4723
            Acid-Base Imbalance + 93
            DNA Repair-Deficiency Disorders + 811
            Hyperlactatemia 0
            Malabsorption Syndromes + 125
            Metabolic Bone Diseases + 194
            Metabolic Brain Diseases + 629
            Metabolic Skin Diseases + 38
            Metabolic Syndrome + 130
            Proteostasis Deficiencies + 354
            Wasting Syndrome + 4
            Water-Electrolyte Imbalance + 62
            acquired metabolic disease + 2376
            carbohydrate metabolism disease + 1336
            glucose metabolism disease + 1336
            inherited metabolic disorder + 2542
            lipid metabolism disorder + 888
            mineral metabolism disease + 561
            mitochondrial metabolism disease + 425
            phosphorus metabolism disease + 200
            porphyria + 22
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