Search Ontology:
Human Disease

glycine N-methyltransferase deficiency

Term ID
DOID:0111037
Synonyms
  • GNMT deficiency
  • hypermethioninemia due to glycine N-methyltransferase deficiency
  • hypermethioninemia due to GNMT deficiency
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. (2)
References
Ontology
Human Disease   ( DOID:0111037 )
Relationships
is a type of
disjoint_from
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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