Biomaterial Database

T Matsuura

Department of Pediatrics, Faculty of Medicine, University of the Ryukyus.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D020163	Ornithine Carbamoyltransferase Deficiency Disease	An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-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)	OTC Deficiency,Ornithine Transcarbamylase Deficiency,Ornithine Transcarbamylase Deficiency Disease,Deficiency Disease, Ornithine Carbamoyltransferase,Deficiency Disease, Ornithine Transcarbamylase,Ornithine Carbamoyltransferase Deficiency,Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To,Deficiencies, OTC,Deficiencies, Ornithine Transcarbamylase,Deficiency, OTC,Deficiency, Ornithine Transcarbamylase,OTC Deficiencies,Ornithine Transcarbamylase Deficiencies
D022124	Hyperammonemia	Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.