Global Code Book Ontology

Last uploaded: May 2, 2024
Preferred Name

inherited lipid metabolism disorder

Synonyms

fatty acid metabolism disorder

lipid metabolism disorder

dyslipidaemia

disorder of lipid metabolism

dyslipidemia

Definitions

An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.

ID

http://purl.obolibrary.org/obo/MONDO_0002525

closeMatch

http://identifiers.org/meddra/10061227

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_disrupted_process.yaml

disease causes disruption of

http://purl.obolibrary.org/obo/GO_0006629

exactMatch

http://www.orpha.net/ORDO/Orphanet_309005

http://identifiers.org/snomedct/267431006

http://purl.obolibrary.org/obo/NCIT_C97092

http://linkedlifedata.com/resource/umls/id/C0154251

http://purl.obolibrary.org/obo/DOID_3146

hasBroadSynonym

lipid metabolism disorder

dyslipidaemia

disorder of lipid metabolism

dyslipidemia

hasDbXref

SCTID:267431006

NCIT:C97092

MedDRA:10061227

UMLS:C0154251

Orphanet:309005

DOID:3146

GARD:21314

ICD9:272.8

ICD9:272.9

hasRelatedSynonym

fatty acid metabolism disorder

IAO_0000115

An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.

id

MONDO:0002525

inSubset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

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

label

inherited lipid metabolism disorder

notation

MONDO:0002525

prefLabel

inherited lipid metabolism disorder

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019052

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