loading...| Preferred Name |
tyrosinemia type II |
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| Synonyms |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050725 |
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| created_by |
lschriml |
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| creation_date |
2012-06-13T03:09:31Z |
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| 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. |
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| hasDbXref |
OMIM:276600 |
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| hasExactSynonym |
Richner-Hanhart syndrome Oculocutaneous tyrosinemia |
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| hasOBONamespace |
disease_ontology |
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| id |
DOID:0050725 |
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| imported from | ||
| label |
tyrosinemia type II |
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| prefixIRI |
DOID:0050725 |
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| prefLabel |
tyrosinemia type II |
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| subClassOf |
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