inborn disorder of pyrimidine metabolism

Findings

No curated finding names inborn disorder of pyrimidine metabolism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Where it sits

A kind of

• inborn disorder of purine or pyrimidine metabolism
• pyrimidine metabolism disease

Narrower terms (9)

• beta-ureidopropionase deficiency
• developmental and epileptic encephalopathy, 50
• dihydropyrimidine dehydrogenase deficiency
• dihydropyrimidinuria
• hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
• hyper-beta-alaninemia
• mitochondrial DNA depletion syndrome, myopathic form
• mitochondrial neurogastrointestinal encephalomyopathy
• orotic aciduria

Resolves to: inborn disorder of pyrimidine metabolism

Also called

inborn error of pyrimidine nucleobase metabolic processinborn pyrimidine nucleobase metabolic process disorderpyrimidine metabolic disorderrare inborn error of pyrimidine nucleobase metabolic process