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1.

Tyrosinemia type II

Tyrosinemia type II (TYRSN2) is an autosomal recessive disorder characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. The disorder is caused by deficiency of hepatic tyrosine aminotransferase (Natt et al., 1992). [from OMIM]

MedGen UID:
75687
Concept ID:
C0268487
Disease or Syndrome
2.

Herpetiform corneal ulceration

The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining. [from HPO]

MedGen UID:
866566
Concept ID:
C4020911
Disease or Syndrome

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