Tyrosinemia Type I
Disease ID: disease_node_13247
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| Dbxref | MIM:276700 |
|---|---|
| Subclassof | DOID_9275 |
| Data Source | DOID |
| Synonyms | hepatorenal tyrosinemia |
| Doid Label | tyrosinemia type I |
| Doid Description | A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. |
| Has Phenotype | HP_0003231 |
| Disease Node Id | disease_node_13247 |
| Doid Id | DOID_0050726 |
| Label | Tyrosinemia Type I |
- Outgoing r'ship
SUBCLASS_OFto/from Tyrosinemia(ID:disease_node_13245) (Disease)