Summary Literature (0)

DOID:0111037 - glycine N-methyltransferase deficiency

Disease Ontology Definition:A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21.

Synonyms: GNMT deficiency, hypermethioninemia due to GNMT deficiency, hypermethioninemia due to glycine N-methyltransferase deficiency,

Echinobase Genes : gnmt


OMIM:

MIM:606664 - glycine n-methyltransferase deficiency

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee