homocystinuria due to methylene tetrahydrofolate reductase deficiency
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
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
SPAC343.10 SPAC56F8.10