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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: Thesaurismoses;   metabolic disease;   metabolic diseases;   thesaurismosis
 primary_id: MESH:D008659
 alt_id: RDO:0003148
 xref: NCI:C3235;   OMIM:PS613280
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  disease 15626
    Nutritional and Metabolic Diseases 4376
      disease of metabolism 4376
        Acid-Base Imbalance + 72
        DNA Repair-Deficiency Disorders + 203
        Hyperlactatemia 0
        Malabsorption Syndromes + 114
        Metabolic Bone Diseases + 367
        Metabolic Brain Diseases + 472
        Metabolic Skin Diseases + 31
        Metabolic Syndrome + 329
        Proteostasis Deficiencies + 259
        Wasting Syndrome + 4
        Water-Electrolyte Imbalance + 64
        acquired metabolic disease + 2702
        carbohydrate metabolism disease + 1764
        glucose metabolism disease + 1764
        inherited metabolic disorder + 1864
        lipid metabolism disorder + 736
        mineral metabolism disease + 411
        mitochondrial metabolism disease + 307
        phosphorus metabolism disease + 183
        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.