BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

inherited metabolic disorder
Synonyms

Inborn Errors of Metabolism

Metabolic hereditary disorder

inborn metabolism 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

UMLS_CUI:C0025521

MESH:D008661

SNOMEDCT_US_2020_03_01:86095007

NCI:C34816

has exact synonym

Inborn Errors of Metabolism

Metabolic hereditary disorder

inborn metabolism 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#NCIthesaurus

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

label

inherited metabolic disorder

notation

DOID:655

prefLabel

inherited metabolic disorder

textual 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.

subClassOf

http://purl.obolibrary.org/obo/DOID_0014667

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Delete Mapping To Ontology Source
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 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 ODAE 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 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 ODAE 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