loading...| Preferred Name |
tyrosinemia type II |
|
| Synonyms |
Oculocutaneous tyrosinemia |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0050725 |
|
| created by |
lschriml |
|
| creation_date |
2012-06-13T03:09:31Z |
|
| database_cross_reference |
OMIM:276600 |
|
| 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. |
|
| has exact synonym |
Oculocutaneous tyrosinemia Richner-Hanhart syndrome |
|
| has symptom | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0050725 |
|
| label |
tyrosinemia type II |
|
| notation |
DOID:0050725 |
|
| prefLabel |
tyrosinemia type II |
|
| subClassOf |
http://purl.obolibrary.org/obo/DOID_37 http://purl.obolibrary.org/obo/DOID_9275 |