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Metadata
ID DOID:9267
Name urea cycle disorder
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.
http://en.wikipedia.org/wiki/Urea_cycle_disorder
Xrefs

GARD:7837

ICD10CM:E72.2

ICD10CM:E72.20

ICD9CM:270.6

ICD9CM_2006:270.6

MESH:D056806

NCI:C84785

SNOMEDCT_US_2018_03_01:36444000

UMLS_CUI:C0154246

Subsets

NCIthesaurus

Synonyms

disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia [EXACT]

disorder of urea cycle metabolism [EXACT]

urea cycle defect [EXACT]

Parent Relationships

is_a amino acid metabolic disorder

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