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loading...| Preferred Name |
dihydropyrimidinase deficiency |
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| Synonyms |
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| Definitions |
A pyrimidine metabolic disorder characterized by a defect in the degredation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in DPYS on chromosome 8q22.3. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111629 |
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| definition |
A pyrimidine metabolic disorder characterized by a defect in the degredation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in DPYS on chromosome 8q22.3. |
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| label |
dihydropyrimidinase deficiency |
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| prefixIRI |
DOID:0111629 |
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| prefLabel |
dihydropyrimidinase deficiency |
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| subClassOf |
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