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Ornithine Carbamoyltransferase Deficiency Disease

Go to external page http://purl.obolibrary.org/obo/NCIT_C84957

An X-linked urea cycle metabolic disorder characterized by deficiency of ornithine carbamoyltransferase, resulting in the accumulation of amino acids and ammonia in the serum. Signs and symptoms include seizures, delayed growth, behavioral changes, ataxia, lethargy, and coma. [ ]

Term info

Label

Ornithine Carbamoyltransferase Deficiency Disease

Synonyms
  • Ornithine Carbamoyltransferase Deficiency
  • Ornithine Carbamoyltransferase Deficiency Disease
  • Ornithine Transcarbamylase Deficiency
Subsets

NCIT_C99147, NCIT_C90259

Has NICHD Parent

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

NICHD Hierarchy Term

Ornithine Carbamoyltransferase Deficiency Disease

Preferred Name

Ornithine Carbamoyltransferase Deficiency Disease

Semantic Type

Disease or Syndrome

UMLS CUI

C0268542

code

C84957