Experimental Factor Ontology

Last uploaded: November 18, 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

database_cross_reference

SCTID:267431006

NCIT:C97092

MEDGEN:57587

SCTID:402788005

MedDRA:10061227

UMLS:C0154251

Orphanet:309005

DOID:3146

GARD:21314

ICD9:272.8

ICD9:272.9

definition

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

disease disrupts

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

exactMatch

http://identifiers.org/snomedct/267431006

http://identifiers.org/snomedct/402788005

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

http://identifiers.org/medgen/57587

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

http://purl.obolibrary.org/obo/Orphanet_309005

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

has_broad_synonym

lipid metabolism disorder

dyslipidaemia

disorder of lipid metabolism

dyslipidemia

has_related_synonym

fatty acid metabolism disorder

id

MONDO:0002525

in_subset

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

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

label

inherited lipid metabolism disorder

notation

MONDO:0002525

preferred label

inherited lipid metabolism disorder

prefLabel

inherited lipid metabolism disorder

subClassOf

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

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