Phenotype Library | Search Phenotypes

Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency (MONDO:0009353)

Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations.

Overview

Category

Ontology ID

Internal:10585

Synonyms

MTHFR deficiency

homocystinuria due to methylene tetrahydrofolate reductase deficiency

methylene tetrahydrofolate reductase deficiency

5,10 alpha methylenetetrahydro-folate reductase deficiency

5,10-alpha-methylenetetrahydro-folate reductase deficiency

Homocysteinemia due to methylenetetrahydro-folate reductase deficiency

Homocysteinuria due to methylenetetrahydro-folate reductase deficiency

MTHFR deficiency, thermolabile type

Methylenetetrahydro-folate reductase deficiency

homocystinuria due to MTHFR deficiency

homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity

methylenetetrahydrofolate reductase deficiency

Mapped terms

GARD:0002734

MEDGEN:343470

MESH:C537357

NANDO:1201041

OMIM:236250

Orphanet:395

SCTID:41797007

UMLS:C1856061

Child terms

Unknown children.