Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| calbc:hasCorrelation | |
| skos:exactMatch | |
| skos:definition |
MSH: 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.,NCI: A rare disorder characterized by an inborn error in pyrimidine metabolism. It results in the deficiency or complete absence of the enzyme dihydropyrimidine dehydrogenase. Individuals with this disorder may develop a severe toxicity reaction if they are exposed to the chemotherapeutic agent 5-fluorouracil.
|
| skos:inScheme | |
| skos-xl:prefLabel | |
| skos-xl:altLabel |
umls-label:A12999959,
umls-label:A17694943,
umls-label:A18435403,
umls-label:A17465716,
umls-label:A12983380,
umls-label:A12990474,
umls-label:A12999960,
umls-label:A12983381,
umls-label:A12988104,
umls-label:A17465717,
umls-label:A17689249,
umls-label:A12983382,
umls-label:A17468133,
umls-label:A20905431,
umls-label:A20911096,
umls-label:A20912953,
umls-label:A12985749,
umls-label:A17463297,
umls-label:A12999961,
umls-label:A12992848,
umls-label:A12995220,
umls-label:A12997634,
umls-label:A7626740,
umls-label:A7626741,
umls-label:A7643935,
umls-label:A17460878,
umls-label:A18442573
|