OBO ID: DOID:0111037
Term Name: glycine N-methyltransferase deficiency Search Ontology:
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 glycine N-methyltransferase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GNMT Glycine N-methyltransferase deficiency 606664
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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