About   Help   FAQ
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 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.

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory