BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

urea cycle disorder
Synonyms

disorder of urea cycle metabolism

disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia

urea cycle defect

Definitions

An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.

ID

http://purl.obolibrary.org/obo/DOID_9267

database_cross_reference

MESH:D056806

SNOMEDCT_US_2020_03_01:36444000

ICD10CM:E72.2

UMLS_CUI:C0154246

ICD9CM:270.6

GARD:7837

NCI:C84785

has exact synonym

disorder of urea cycle metabolism

disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia

urea cycle defect

has_obo_namespace

disease_ontology

id

DOID:9267

imported from

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

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

urea cycle disorder

notation

DOID:9267

prefLabel

urea cycle disorder

textual definition

An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.

subClassOf

http://purl.obolibrary.org/obo/DOID_9252

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