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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 glycine N-methyltransferase deficiency, hypermethioninemia due to GNMT deficiency

Xenbase Genes : gnmt

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011698 - glycine N-methyltransferase deficiency


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): hypermethioninemia (is_a)