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DOID DOID:9271
Name ornithine carbamoyltransferase deficiency
Definition An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.
http://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase_deficiency
Xrefs

CSP2005:1849-9662

GARD:8391

ICD10CM:E72.4

MESH:D020163

NCI:C84957

OMIM:311250

SNOMEDCT_US_2018_03_01:80908008

UMLS_CUI:C0268542

Subsets

NCIthesaurus

Synonyms

deficiency of citrulline phosphorylase [EXACT]

ornithine transcarbamylase deficiency [EXACT]

Relationships

is_a urea cycle disorder

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