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loading...| Preferred Name |
tyrosinemia type I |
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| Synonyms |
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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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| 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. |
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| imported from | ||
| label |
tyrosinemia type I |
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| prefixIRI |
DOID:0050726 |
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| prefLabel |
tyrosinemia type I |
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| subClassOf |
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