Reduced dihydropyrimidine dehydrogenase activity

Symptom Information:

Symptom ID: HPO:0003654
Synonyms:
Dihydropyrimidine dehydrogenase deficiency [HPO:0003654]
Dihydropyrimidine dehydrogenase deficiency [MedDRA:10052622]
Quality:
Cross references:
Is a (Direct Parents):
MedDRA Disorders of pyrimidine metabolism
HPO         Abnormality of pyrimidine metabolism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of nucleobase metabolism(HPO:0010932)
             Abnormality of pyrimidine metabolism(HPO:0004353)
                Reduced dihydropyrimidine dehydrogenase activity(HPO:0003654)
MedDRA:
Metabolism and nutrition disorders(MedDRA:10027433)
    Purine and pyrimidine metabolism disorders(MedDRA:10037546)
       Disorders of pyrimidine metabolism(MedDRA:10070969)
          Reduced dihydropyrimidine dehydrogenase activity(HPO:0003654)
Database Frequency: 2 / 7739
Resource:

All diseases associated with this symptom:

Dihydropyrimidine dehydrogenase deficiency (Orphanet:1675)
Dihydropyrimidinuria (Orphanet:38874)