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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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:9275
ICD10:E70.21
MESH:D020176
NCIT:C98640
OMIMPS:276700
SCTID:190694001
UMLS:C0268483
MONDO:0004741
High level summary of knowledge for a disease, including descriptions and datasource references.