Mondo Disease Ontology

Last uploaded: July 7, 2026

Id	http://purl.obolibrary.org/obo/MONDO_0005066 http://purl.obolibrary.org/obo/MONDO_0005066
Preferred Name	metabolic disease
Definitions	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.
Synonyms	metabolic disorder disorder of metabolic process metabolic process disease metabolic disease
Type	http://www.w3.org/2002/07/owl#Class

definition	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.
prefLabel	metabolic disease
label	metabolic disease
has_exact_synonym	metabolic disorder disorder of metabolic process metabolic process disease metabolic disease
exactMatch	http://identifiers.org/mesh/D008659 https://icd.who.int/browse10/2019/en#/E70-E90 http://identifiers.org/medgen/44376 http://linkedlifedata.com/resource/umls/id/C0025517 http://identifiers.org/snomedct/75934005 http://purl.obolibrary.org/obo/NCIT_C3235 http://purl.obolibrary.org/obo/DOID_0014667 http://purl.bioontology.org/ontology/ICD10CM/E70-E88 http://www.ebi.ac.uk/efo/EFO_0000589 See more See less
type	http://www.w3.org/2002/07/owl#Class
id	MONDO:0005066
in_subset	http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#rare_grouping http://purl.obolibrary.org/obo/mondo#harrisons_view
notation	MONDO:0005066
database_cross_reference	DOID:0014667 EFO:0000589 ICD10WHO:E70-E90 MESH:D008659 UMLS:C0025517 NANDO:1100002 MEDGEN:44376 SCTID:75934005 ICD10CM:E70-E88 ICD9:277.8 ICD9:277.9 NCIT:C3235 See more See less
subClassOf	http://purl.obolibrary.org/obo/MONDO_7770007

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