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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: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: 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 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        Acid-Base Imbalance + 86
        DNA Repair-Deficiency Disorders + 256
        Hyperlactatemia 0
        Malabsorption Syndromes + 118
        Metabolic Bone Diseases + 377
        Metabolic Brain Diseases + 576
        Metabolic Skin Diseases + 35
        Metabolic Syndrome + 324
        Proteostasis Deficiencies + 317
        Wasting Syndrome + 5
        Water-Electrolyte Imbalance + 68
        acquired metabolic disease + 2786
        carbohydrate metabolism disease + 1757
        glucose metabolism disease + 1757
        inherited metabolic disorder + 2237
        lipid metabolism disorder + 899
        mineral metabolism disease + 445
        mitochondrial metabolism disease + 345
        phosphorus metabolism disease + 182
        porphyria + 21
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.