Mondo Disease Ontology - inborn errors of metabolism - Classes | NCBO BioPortal

Mondo Disease Ontology

Last uploaded: July 7, 2026

Id	http://purl.obolibrary.org/obo/MONDO_0019052 http://purl.obolibrary.org/obo/MONDO_0019052
Preferred Name	inborn errors of metabolism
Definitions	Note that the ordo class is specifically for rare diseases, but we broaden to be inclusive of HH1 An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.
Synonyms	inherited disorder of metabolism inherited metabolic disorder hereditary metabolic disease inborn error of metabolism congenital metabolism disorder inborn errors of metabolism inherited disorders of metabolism inborn disorders of metabolism inborn metabolic disorder congenital metabolic disorder rare inherited metabolic disorder rare inborn errors of metabolism See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.
prefLabel	inborn errors of metabolism
label	inborn errors of metabolism
comment	Note that the ordo class is specifically for rare diseases, but we broaden to be inclusive of HH1
has_exact_synonym	inherited disorder of metabolism inherited metabolic disorder hereditary metabolic disease inborn error of metabolism congenital metabolism disorder inborn errors of metabolism inherited disorders of metabolism inborn disorders of metabolism inborn metabolic disorder congenital metabolic disorder See more See less
exactMatch	http://identifiers.org/medgen/6323 http://id.who.int/icd/entity/733825440 http://purl.obolibrary.org/obo/DOID_655 http://linkedlifedata.com/resource/umls/id/C0025521 http://www.orpha.net/ORDO/Orphanet_68367 http://identifiers.org/snomedct/86095007 http://purl.obolibrary.org/obo/NCIT_C34816 http://identifiers.org/mesh/D008661 See more See less
type	http://www.w3.org/2002/07/owl#Class
has_narrow_synonym	rare inherited metabolic disorder rare inborn errors of metabolism
id	MONDO:0019052
in_subset	http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders
notation	MONDO:0019052
closeMatch	http://identifiers.org/meddra/10062018 http://identifiers.org/meddra/10058097
conformsTo	http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml
database_cross_reference	icd11.foundation:733825440 NCIT:C34816 NANDO:2100159 MEDGEN:6323 MESH:D008661 MedDRA:10058097 Orphanet:68367 UMLS:C0025521 SCTID:86095007 MedDRA:10062018 GARD:0022508 DOID:655 See more See less
curated content resource	https://www.malacards.org/card/inherited_metabolic_disorder
subClassOf	http://purl.obolibrary.org/obo/MONDO_0005066 http://purl.obolibrary.org/obo/MONDO_0003847
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/1483

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