Ontology of Drug Adverse Events

Last uploaded: January 12, 2019
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Preferred Name

inherited metabolic disorder
Synonyms

Inborn Errors of Metabolism

inborn metabolism disorder

Metabolic hereditary disorder
Definitions

A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
ID

http://purl.obolibrary.org/obo/DOID_655
database_cross_reference

SNOMEDCT_US_2016_03_01:86095007

UMLS_CUI:C0025521

SNOMEDCT_US_2016_03_01:363205007

MESH:D008661

NCI:C34816
definition

A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
has exact synonym

Inborn Errors of Metabolism

inborn metabolism disorder

Metabolic hereditary disorder
has_obo_namespace

disease_ontology
id

DOID:655
imported from

http://purl.obolibrary.org/obo/doid.owl
in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_MGI_slim
label

inherited metabolic disorder
notation

DOID:655
prefLabel

inherited metabolic disorder
subClassOf

http://purl.obolibrary.org/obo/DOID_0014667
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http://purl.obolibrary.org/obo/DOID_655 HTN SAME_URI
http://purl.obolibrary.org/obo/DOID_655 EUPATH SAME_URI
http://purl.obolibrary.org/obo/DOID_655 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_655 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_655 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_655 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_655 EPIO SAME_URI
http://purl.obolibrary.org/obo/DOID_655 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_655 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_655 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_655 FNS-H SAME_URI
http://purl.obolibrary.org/obo/DOID_655 HTN LOOM
http://purl.obolibrary.org/obo/DOID_655 EUPATH LOOM
http://purl.obolibrary.org/obo/DOID_655 DTO LOOM
http://purl.obolibrary.org/obo/DOID_655 DOID LOOM
http://purl.obolibrary.org/obo/DOID_655 BAO LOOM
http://purl.obolibrary.org/obo/DOID_655 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_655 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_655 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_655 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_655 FNS-H LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_75aa9394_b999_4485_87a0_fe22b18b45a8 STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_75aa9394_b999_4485_87a0_fe22b18b45a8 CVAO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Inherited_Metabolic_Disorder ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Inherited_Metabolic_Disorder MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Inherited_Metabolic_Disorder EPISEM LOOM