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Disease Ontology Browser
glycine N-methyltransferase deficiency (DOID:0111037)
Alliance: disease page
Synonyms: GNMT deficiency; hypermethioninemia due to glycine N-methyltransferase deficiency; hypermethioninemia due to GNMT deficiency
Alt IDs: OMIM:606664, ICD10CM:E72.1, ORDO:289891
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory