Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
| Disease Aliases (12) | 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 Homocystinuria due to mthfr deficiency Methylenetetrahydrofolate reductase deficiency Mthfr deficiency Mthfr deficiency, thermolabile type Methylenetetrahydro-folate reductase deficiency Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
Associated Genes (1) NCBI-RefSeq: MTHFR (Methylenetetrahydrofolate reductase) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Homocystinuria due to methylene tetrahydrofolate reductase deficiency | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |