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| Term | dihydropyrimidinase deficiency | ID (Ontology) | DOID:0111629 (Human Disease) |
| Definition | A pyrimidine metabolic disorder characterized by a defect in the degradation 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 the DPYS gene on chromosome 8q22.3. | ||
| Also Known As | "dihydropyrimidinuria" ; "DPH deficiency" ; "DPYS deficiency" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease____ inherited metabolic disorder | |__pyrimidine metabolic disorder__| dihydropyrimidinase deficiency 2 rec. |
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| Is a |
autosomal recessive disease pyrimidine metabolic disorder |
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External Crossreferences & Linkouts
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GARD:12347 MESH:C562815 MIM:222748 ORDO:38874 SNOMEDCT_US_2023_03_01:238014002 UMLS_CUI:C0342803 |
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