loading...| Preferred Name |
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| Synonyms |
disease of metabolism Metabolic disease, NOS Generalized metabolic disorder (disorder) Metabolic disease (disorder) METABOLISM DISORDER NOS metabolism disorder Thesaurismoses Disease, Metabolic Metabolic disorder, NOS Disorder of metabolism NOS Generalised metabolic disorder Diseases, Metabolic Metabolic Disorder Unspecified disorder of metabolism Disorder of metabolism NOS (disorder) Metabolic disorders MD - Metabolic disorders Generalized metabolic disorder Thesaurismosis Metabolic Diseases DIS METAB METAB DIS metabolic process disease metabolic disease disorder of metabolic process metabolic disorder |
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| Definitions |
A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. -- 2003 A disease that involving errors in metabolic processes. 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) A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process. |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0000589 |
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| database_cross_reference |
DOID:0014667 MeSH:D008659 SNOMEDCT:75934005 ICD9:277.9 NCIt:C3235 ICD10WHO:E70-E90 UMLS:C0025517 NCIT:C3235 ICD10CM:E70-E88 ICD9:277.8 MESH:D008659 MONDO:0005066 SCTID:75934005 |
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| definition |
A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. -- 2003 A disease that involving errors in metabolic processes. 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) A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process. |
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| exactMatch |
http://identifiers.org/mesh/D008659 https://icd.who.int/browse10/2019/en#/E70-E90 http://linkedlifedata.com/resource/umls/id/C0025517 http://identifiers.org/snomedct/75934005 http://purl.obolibrary.org/obo/NCIT_C3235 |
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| gwas_trait |
true |
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| has_exact_synonym |
Metabolic disease, NOS Generalized metabolic disorder (disorder) Metabolic disease (disorder) METABOLISM DISORDER NOS metabolism disorder Thesaurismoses Disease, Metabolic Metabolic disorder, NOS Disorder of metabolism NOS Generalised metabolic disorder disease of metabolism Diseases, Metabolic Metabolic Disorder Unspecified disorder of metabolism Disorder of metabolism NOS (disorder) Metabolic disorders MD - Metabolic disorders Generalized metabolic disorder Thesaurismosis Metabolic Diseases DIS METAB METAB DIS metabolic process disease metabolic disease disorder of metabolic process metabolic disorder |
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| has_related_synonym |
disease of metabolism |
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| id |
EFO:0000589 |
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| in_subset | ||
| label |
metabolic disease |
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| notation |
EFO:0000589 |
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| prefixIRI |
efo:EFO_0000589 |
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| term editor |
James Malone |
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| disjointWith | ||
| subClassOf |