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loading...| Preferred Name |
tyrosinemia type I |
|
| Synonyms |
hepatorenal tyrosinemia |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050726 |
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| created_by |
lschriml |
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| creation_date |
2012-07-06T02:55:45Z |
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| database_cross_reference |
MIM:276700 |
|
| 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. |
|
| has exact synonym |
hepatorenal tyrosinemia |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0050726 |
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| label |
tyrosinemia type I |
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| notation |
DOID:0050726 |
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| prefLabel |
tyrosinemia type I |
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| subClassOf |
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