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tyrosinemia

Disease Summary
Associated Targets (3)
Tbio

2

Tclin

1


Mondo Description An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.
Disease Ontology Description An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.
Mondo Term and Equivalent IDs
MONDO:0004741:  tyrosinemia
ICD10:E70.21: 
MESH:D020176: 
NCIT:C98640: 
OMIMPS:276700: 
SCTID:190694001: 
UMLS:C0268483: