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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:glycine N-methyltransferase deficiency
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Accession:DOID:0111037 term browser browse the term
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. (DO)
Synonyms:exact_synonym: GNMT deficiency;   hypermethioninemia due to GNMT deficiency;   hypermethioninemia due to glycine N-methyltransferase deficiency
 primary_id: OMIM:606664
 alt_id: RDO:9004224
 xref: GARD:10764;   ORDO:289891


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glycine N-methyltransferase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnmt glycine N-methyltransferase ISO
ISS		 ClinVar Annotator: match by term: Glycine N-methyltransferase deficiency
OMIM:606664		 OMIM
ClinVar
MouseDO		 PMID:11596649 PMID:11810299 PMID:14739680 PMID:28492532 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        inherited metabolic disorder 6212
          amino acid metabolic disorder 1525
            hypermethioninemia 4
              glycine N-methyltransferase deficiency 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          inherited metabolic disorder 6212
            amino acid metabolic disorder 1525
              hypermethioninemia 4
                glycine N-methyltransferase deficiency 1
paths to the root