Human Disease Ontology

Last uploaded: February 28, 2024
Preferred Name

inherited metabolic disorder

Synonyms

Inborn Errors of Metabolism

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_2023_03_01:86095007

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

Metabolic hereditary disorder

inborn metabolism disorder

has_obo_namespace

disease_ontology

id

DOID:655

in_subset

http://purl.obolibrary.org/obo/doid#DO_MGI_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

inherited metabolic disorder

notation

DOID:655

prefLabel

inherited metabolic disorder

subClassOf

http://purl.obolibrary.org/obo/DOID_630

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 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 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 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 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