UMLS. CSP-HL7-ICD9CM-NCI-NDFRT-RXNORM
%
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
O O- O0 O1 O2 O3 OA OB OC OD OE OF OG OH OI OJ OK OL OM ON OO OP OR OS OT OU OV OW OX OY OZ
OR ORA ORB ORC ORD ORE ORF ORG ORI ORL ORM ORN ORO ORP ORR ORS ORT ORU ORY ORZ

ornithine carbamoyltransferase deficiency

[An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as a sex-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50) ( MSH )]
UMLS (CSP) C0268542
 
Disease or Syndrome
Relation/PAR: Amino Acid Metabolism, Inborn Errors

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