Cell Line Ontology

Last uploaded: March 21, 2022
Preferred Name

disease of metabolism

Synonyms

METAB DIS

disorder of metabolism NOS

Metabolic disorders

METABOLISM DISORDER NOS

Thesaurismoses

MD - Metabolic disorders

Unspecified disorder of metabolism

disease of metabolism

Generalised metabolic disorder

disorder of metabolism NOS (disorder)

metabolism disorder

Metabolic Diseases

Generalized metabolic disorder

Metabolic disease (disorder)

metabolic disease

Generalized metabolic disorder (disorder)

Metabolic disorder

Metabolic disorder, NOS

Thesaurismosis

Metabolic disease, NOS

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 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)

ID

http://www.ebi.ac.uk/efo/EFO_0000589

comment

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

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)

alternative term

METAB DIS

disorder of metabolism NOS

Metabolic disorders

METABOLISM DISORDER NOS

Thesaurismoses

MD - Metabolic disorders

Unspecified disorder of metabolism

disease of metabolism

Generalised metabolic disorder

disorder of metabolism NOS (disorder)

metabolism disorder

Metabolic Diseases

Generalized metabolic disorder

Metabolic disease (disorder)

metabolic disease

Generalized metabolic disorder (disorder)

Metabolic disorder

Metabolic disorder, NOS

Thesaurismosis

Metabolic disease, NOS

definition source

GeneRIF:15277400

SNOMEDCT:30390004

GeneRIF:15677734

SNOMEDCT:267456000

GeneRIF:12242462

GeneRIF:14592951

GeneRIF:12093894

MSH:D008659

GeneRIF:15246202

GeneRIF:12815182

GeneRIF:12824951

GeneRIF:12707035

GeneRIF:15231871

DOID:0014667

GeneRIF:12215968

ICD9:277.9

SNOMEDCT:75934005

GeneRIF:16018179

NCIt:C3235

label

disease of metabolism

prefixIRI

efo:EFO_0000589

prefLabel

disease of metabolism

see also

URI: http://www.ebi.ac.uk/cellline#metabolic_disease

term editor

James Malone

subClassOf

http://purl.obolibrary.org/obo/DOID_344

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