homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations.
MONDO:0004737
homocystinuria
is_a
MONDO:0017313
disorder of folate metabolism and transport
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
5,10 alpha methylenetetrahydro-folate reductase deficiency
related
5,10-alpha-methylenetetrahydro-folate reductase deficiency
related
Homocysteinemia due to methylenetetrahydro-folate reductase deficiency
related
Homocysteinuria due to methylenetetrahydro-folate reductase deficiency
related
MTHFR deficiency
exact
Methylenetetrahydro-folate reductase deficiency
related
homocystinuria due to MTHFR deficiency
related
homocystinuria due to methylene tetrahydrofolate reductase deficiency
exact
methylene tetrahydrofolate reductase deficiency
exact
SPAC343.10 SPAC56F8.10