WormBase Tree Display for DO_term: DOID:0050726
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| DOID:0050726 | Name | tyrosinemia type I | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | hepatorenal tyrosinemia | |||
| Parent | Is_a | DOID:9275 | |||
| DB_info | Database | OMIM | disease | 276700 | |
| Disease_model_annotation | WBDOannot00000323 | ||||
| WBDOannot00001214 | |||||
| WBDOannot00001215 | |||||
| WBDOannot00001216 | |||||
| WBDOannot00001217 | |||||
| Attribute_of | Gene_by_biology | WBGene00019620 | |||
| Gene_by_orthology | WBGene00019620 | ||||
| Disease_model_genotype | WBGenotype00000121 | ||||
| WBGenotype00000122 | |||||
| WBGenotype00000123 | |||||
| WBGenotype00000124 |
