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urea cycle disorder

Go to external page 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 ]

Synonyms: 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 urea cycle metabolism disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0154246 (NCIT:C84785)
  • Orphanet:79167 (MONDO:equivalentTo)
  • SCTID:36444000 (MONDO:equivalentTo)
  • ICD9:270.6 (MONDO:i2s)
  • GARD:7837 (Orphanet:79167)
  • NCIT:C84785 (MONDO:equivalentTo)
  • MESH:D056806 (MONDO:equivalentTo)
  • DOID:9267 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders

exactMatch

http://purl.obolibrary.org/obo/NCIT_C84785

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

http://identifiers.org/snomedct/36444000

http://identifiers.org/mesh/D056806

http://linkedlifedata.com/resource/umls/id/C0154246

http://www.orpha.net/ORDO/Orphanet_79167

has related synonym

UCD

disorder of urea cycle metabolism and ammonia detoxification

id

MONDO:0004739