Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
Preferred Name

sterol biosynthesis disorder

Synonyms

rare inborn error of sterol biosynthetic process

inborn error of sterol biosynthetic process

inborn sterol biosynthetic process disorder

Definitions

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

ID

http://purl.obolibrary.org/obo/MONDO_0019240

conformsTo

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

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

database_cross_reference

Orphanet:79195

UMLS:CN227602

disease has basis in disruption of

http://purl.obolibrary.org/obo/GO_0016126

exactMatch

http://www.orpha.net/ORDO/Orphanet_79195

http://linkedlifedata.com/resource/umls/id/CN227602

has exact synonym

rare inborn error of sterol biosynthetic process

inborn error of sterol biosynthetic process

inborn sterol biosynthetic process disorder

id

MONDO:0019240

imported from

http://purl.obolibrary.org/obo/mondo.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders

label

sterol biosynthesis disorder

notation

MONDO:0019240

prefLabel

sterol biosynthesis disorder

textual definition

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

subClassOf

http://purl.obolibrary.org/obo/MONDO_0015327

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

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

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