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urea cycle disorder

^ http://purl.obolibrary.org/obo/MONDO_0004739

A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. [ NCIT:P378 ]

Term info

database cross reference
  • NCIT:C84785 (MONDO:equivalentTo)
  • ICD9:270.6 (MONDO:i2s)
  • MESH:D056806 (MONDO:equivalentTo)
  • DOID:9267 (MONDO:equivalentTo)
  • SCTID:36444000 (MONDO:equivalentTo)
  • Orphanet:79167 (MONDO:equivalentTo)
  • UMLS:C0154246 (NCIT:C84785)
  • GARD:0007837 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
UCD [ GARD:0007837 ]

definition

A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C84785, http://purl.obolibrary.org/obo/Orphanet_79167, http://purl.obolibrary.org/obo/DOID_9267, http://identifiers.org/mesh/D056806, http://identifiers.org/snomedct/36444000, http://linkedlifedata.com/resource/umls/id/C0154246

has exact synonym

urea cycle metabolism disorder, urea cycle disorders, urea cycle defect, inborn urea cycle disorder, inborn disorder of urea cycle metabolism and ammonia detoxification, disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia, disorder of urea cycle metabolism

has related synonym

UCD, disorder of urea cycle metabolism and ammonia detoxification

id

MONDO:0004739