Preferred Name |
dihydropyrimidinase deficiency |
|
Synonyms |
DPH deficiency |
|
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 the DPYS gene on chromosome 8q22.3. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0111629 |
|
database_cross_reference |
SNOMEDCT_US_2023_03_01:238014002 MESH:C562815 UMLS_CUI:C0342803 OMIM:222748 GARD:12347 ORDO:38874 |
|
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 the DPYS gene on chromosome 8q22.3. |
|
has exact synonym |
DPH deficiency DPYSD DPYS deficiency dihydropyrimidinuria |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0111629 |
|
in_subset | ||
label |
dihydropyrimidinase deficiency |
|
notation |
DOID:0111629 |
|
prefLabel |
dihydropyrimidinase deficiency |
|
subClassOf |