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Metadata
ID DOID:0050725
Name tyrosinemia type II
Definition A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels.
http://en.wikipedia.org/wiki/Tyrosinemia_type_II, http://www.omim.org/entry/276600?search=276600&highlight=276600
Xrefs

OMIM:276600

Synonyms

Oculocutaneous tyrosinemia [EXACT]

Richner-Hanhart syndrome [EXACT]

Parent Relationships

is_a tyrosinemia

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