Jump to:
loading...| Preferred Name |
tyrosinemia type I |
|
| Synonyms |
hepatorenal tyrosinemia |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0050726 |
|
| created by |
lschriml |
|
| creation_date |
2012-07-06T02:55:45Z |
|
| database_cross_reference |
OMIM:276700 |
|
| has exact synonym |
hepatorenal tyrosinemia |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0050726 |
|
| label |
tyrosinemia type I |
|
| notation |
DOID:0050726 |
|
| prefLabel |
tyrosinemia type I |
|
| textual definition |
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. |
|
| subClassOf |
Create mapping