Global Code Book Ontology

Last uploaded: May 2, 2024
Preferred Name

sterol metabolism disorder

Synonyms

rare inborn error of sterol metabolic process

inborn sterol metabolic process disorder

inborn error of sterol metabolic process

Definitions

An inherited metabolic disease that is has its basis in the disruption of sterol metabolic process.

ID

http://purl.obolibrary.org/obo/MONDO_0019256

conformsTo

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

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

disease causes disruption of

http://purl.obolibrary.org/obo/GO_0016125

disease has basis in disruption of

http://purl.obolibrary.org/obo/GO_0016125

exactMatch

http://www.orpha.net/ORDO/Orphanet_79226

http://linkedlifedata.com/resource/umls/id/CN227607

hasDbXref

UMLS:CN227607

Orphanet:79226

GARD:18981

hasExactSynonym

rare inborn error of sterol metabolic process

inborn sterol metabolic process disorder

inborn error of sterol metabolic process

IAO_0000115

An inherited metabolic disease that is has its basis in the disruption of sterol metabolic process.

id

MONDO:0019256

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

sterol metabolism disorder

notation

MONDO:0019256

prefLabel

sterol metabolism disorder

subClassOf

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

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

http://purl.obolibrary.org/obo/MONDO_0045012

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