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Metadata
ID DOID:9273
Name citrullinemia
Definition An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood.
http://en.wikipedia.org/wiki/Citrullinemia
Xrefs

ICD10CM:E72.23

MESH:D020159

NCI:C84639

ORDO:187

SNOMEDCT_US_2023_03_01:15489004

UMLS_CUI:C0175683

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

ASS deficiency [EXACT]

classic citrullinemia [EXACT]

deficiency of citrulline-aspartate ligase [EXACT]

Parent Relationships

is_a urea cycle disorder

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