Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
Preferred Name

urea cycle disorder

Synonyms

disorder of urea cycle metabolism

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_2023_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

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

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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