Tyrosinemia Type Ii
Disease ID: disease_node_13248
Connections displayed (default: 10).
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| Dbxref | MIM:276600 |
|---|---|
| Subclassof | DOID_409, DOID_37, DOID_9275 |
| Data Source | DOID |
| Synonyms | Oculocutaneous tyrosinemia, Richner-Hanhart syndrome |
| Doid Label | tyrosinemia type II |
| Doid Description | 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 Phenotype | HP_0000972, HP_0003231 |
| Has Symptom | SYMP_0000314 |
| Disease Node Id | disease_node_13248 |
| Doid Id | DOID_0050725 |
| Label | Tyrosinemia Type Ii |
- Outgoing r'ship
HAS_SYMPTOMto/from Keratitis(ID:disease_node_4435) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Skin Diseases(ID:disease_node_6968) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Liver Diseases(ID:disease_node_4822) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Skin Diseases, Genetic(ID:disease_node_6970) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Tyrosinemia(ID:disease_node_13245) (Disease)