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Disease Ontology Browser
dihydropyrimidinase deficiency (DOID:0111629)
Alliance: disease page
Synonyms: dihydropyrimidinuria; DPH deficiency; DPYS deficiency; DPYSD
Alt IDs: OMIM:222748, MESH:C562815, ORDO:38874, UMLS_CUI:C0342803
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/26/2020
MGI 6.15
The Jackson Laboratory