Name
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Synonmys
METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY ,
MTHFR DEFICIENCY | MTHFR DEFICIENCY, THERMOLABILE TYPE, INCLUDED
Classification
genetic,
metabolism,
neurological
Associated Genes
Mouse Orthologs
Mthfr
(Withdrawn symbols:
AI323986
)
Source
OMIM:236250 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)