loading...| Preferred Name |
DIHYDROPYRIMIDINASE DEFICIENCY |
|
| Synonyms |
DPYSD |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/222748 |
|
| altLabel |
DPYSD DIHYDROPYRIMIDINURIA DPH DEFICIENCY DPYS DEFICIENCY |
|
| cui |
C0342803 C3495551 |
|
| Gene Locus |
8q22 |
|
| Gene Symbol |
DHP DPYS |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU027916 http://purl.bioontology.org/ontology/OMIM/MTHU005726 http://purl.bioontology.org/ontology/OMIM/MTHU009098 http://purl.bioontology.org/ontology/OMIM/MTHU067592 http://purl.bioontology.org/ontology/OMIM/MTHU027917 http://purl.bioontology.org/ontology/OMIM/MTHU037442 http://purl.bioontology.org/ontology/OMIM/MTHU000870 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU049263 http://purl.bioontology.org/ontology/OMIM/MTHU000166 http://purl.bioontology.org/ontology/OMIM/MTHU003860 http://purl.bioontology.org/ontology/OMIM/MTHU002163 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
222748 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
DIHYDROPYRIMIDINASE DEFICIENCY |
|
| Scope Statement |
About half of individuals are asymptomatic and identified by newborn screening programs [MISCELLANEOUS] Mutation carriers may show toxicity to 5-fluorouracil (5FU) [MISCELLANEOUS] High frequency in Japan (2 in 20,000, 0.1%) [MISCELLANEOUS] Caused by mutation in the dihydropyrimidinase gene (DPYS, 613326.0001) [MOLECULAR BASIS] Highly variable phenotype [MISCELLANEOUS] Approximately 12 patients have been reported (as of March 2010) [MISCELLANEOUS] |
|
| tui |
T047 |