loading...| Preferred Name |
Dihydropyrimidine Dehydrogenase Deficiency |
|
| Synonyms |
Pyrimidinemia, Familial |
|
| Definitions |
An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D054067 |
|
| altLabel |
Pyrimidinemia, Familial Dehydrogenase Deficiencies, Dihydropyrimidine Dehydrogenase Deficiency, Dihydropyrimidine Dihydropyrimidinuria Thymine Uraciluria, Hereditary Thymine-Uraciluria, Hereditary Hereditary Thymine Uraciluria DPD Deficiency Familial Pyrimidinemia Familial Pyrimidemias DPD Deficiencies Pyrimidemias, Familial Deficiency, Dihydropyrimidine Dehydrogenase Hereditary Thymine-Uracilurias Deficiencies, Dihydropyrimidine Dehydrogenase Familial Pyrimidemia Pyrimidinemias, Familial Thymine-Uracilurias, Hereditary Deficiency, DPD Pyrimidemia, Familial Dihydropyrimidine Dehydrogenase Deficiencies Dihydropyrimidinurias Familial Pyrimidinemias Deficiencies, DPD Hereditary Thymine-Uraciluria |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C1959620 C3495551 |
|
| DC |
1 |
|
| definition |
An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity. |
|
| DX |
20080101 |
|
| HN |
2008 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2008 |
|
| Mapped from | ||
| MDA |
20070709 |
|
| MMR |
20130708 |
|
| MN |
C16.320.565.798.183 C18.452.648.798.183 |
|
| notation |
D054067 |
|
| prefLabel |
Dihydropyrimidine Dehydrogenase Deficiency |
|
| TERMUI |
T727171 T841274 T679828 T679829 T812679 T841273 T843522 T679827 |
|
| TH |
OMIM (2013) NLM (2008) GHR (2014) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |