FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term tyrosinemia type II ID (Ontology) DOID:0050725 (Human Disease)
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.
Also Known As "Oculocutaneous tyrosinemia" ; "Richner-Hanhart syndrome"
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 Genes
 tyrosinemia type II       1
 for disease ribbon | tyrosinemia type II       1
 model of | tyrosinemia type II       1
Spanning Tree (Parents/Children)
Only view relationship: 
integumentary system disease
 |__skin disease_______________
hepatobiliary disease          |
 |__liver disease______________|
amino acid metabolic disorder  |
 |__tyrosinemia________________|
                               tyrosinemia type II  1 rec.
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Is a skin disease
liver disease
tyrosinemia
Part of
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Synonyms
  • "Oculocutaneous tyrosinemia" EXACT
    "Richner-Hanhart syndrome" EXACT
Secondary IDs
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MIM:276600