/inborn disorder of pyrimidine metabolism

inborn disorder of pyrimidine metabolism

Rare Disease

MONDO:0019238

Also Known As

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

Definition

ANPM

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

External Resources

Orphanet

Orphanet:79193 ↗

GARD

GARD:18967 ↗

Related Diseases

dihydropyrimidinuria

MONDO:0009111

Rare

hyper-beta-alaninemia

MONDO:0009378

Rare

orotic aciduria

MONDO:0009797

Rare

hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

MONDO:0009946

Rare

dihydropyrimidine dehydrogenase deficiency

MONDO:0010130

Rare

mitochondrial DNA depletion syndrome, myopathic form

MONDO:0012301

Rare

← Back to All Diseases