Experimental Factor Ontology

Last uploaded: July 4, 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

database_cross_reference

Orphanet:79226

GARD:18981

definition

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

exactMatch

http://purl.obolibrary.org/obo/Orphanet_79226

has_exact_synonym

rare inborn error of sterol metabolic process

inborn sterol metabolic process disorder

inborn error of sterol metabolic process

id

MONDO:0019256

in_subset

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

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

sterol metabolism disorder

notation

MONDO:0019256

preferred label

sterol metabolism disorder

prefLabel

sterol metabolism disorder

subClassOf

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

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

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