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Health and Social Person-centric Ontology
Last uploaded:
June 9, 2023
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| Id | http://www.ebi.ac.uk/efo/EFO_0000589
http://www.ebi.ac.uk/efo/EFO_0000589
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|---|---|
| Preferred Name |
No Preferred Name For Selected Language
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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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| 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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|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| label |
metabolic disease
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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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| notation |
EFO:0000589
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| in_subset | |
| term editor |
James Malone
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| has_related_synonym |
disease of metabolism
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| id |
EFO:0000589
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| exactMatch |
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| gwas_trait |
true
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| subClassOf | |
| type | |
| 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
See more
See less
|
| disjointWith |
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