ONTOLOGY REPORT - ANNOTATIONS


Term:disease of metabolism
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Accession:DOID:0014667 term browser browse the term
Definition:Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)
Synonyms:exact_synonym: Metabolic Diseases;   Thesaurismoses;   Thesaurismosis;   metabolic disease
 primary_id: MESH:D008659
 alt_id: RDO:0003148
 xref: OMIM:PS613280
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  disease 14920
    Nutritional and Metabolic Diseases 4265
      disease of metabolism 4265
        Acid-Base Imbalance + 76
        DNA Repair-Deficiency Disorders + 179
        Hyperlactatemia 0
        Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis + 2
        Malabsorption Syndromes + 90
        Metabolic Bone Diseases + 369
        Metabolic Brain Diseases + 446
        Metabolic Skin Diseases + 31
        Metabolic Syndrome + 326
        Proteostasis Deficiencies + 246
        SHORT Syndrome 1
        Wasting Syndrome + 4
        Water-Electrolyte Imbalance + 64
        acquired metabolic disease + 2677
        carbohydrate metabolism disease + 1739
        glucose metabolism disease + 1739
        inherited metabolic disorder + 1823
        lipid metabolism disorder + 728
        mineral metabolism disease + 410
        mitochondrial metabolism disease + 330
        phosphorus metabolism disease + 186
        porphyria + 21
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.