obsolete_Ornithine transcarbamylase deficiency true true Ornithine carbamoyltransferase deficiency MedDRA:10071107 3.41.0 OMIM:311250 ICD10:E72.2 UMLS:C0268542 3.27.0 Replaced with Mondo term. MESH:D020163 Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders. duplicate of http://www.ebi.ac.uk/efo/EFO_0007409 OTC deficiency MedDRA:10052450 orphanet http://purl.obolibrary.org/obo/MONDO_0010703 OCT deficiency