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