ONTOLOGY REPORT - ANNOTATIONS


Term:hypermethioninemia
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Accession:DOID:0050544 term browser browse the term
Definition:An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. (DO)
Synonyms:exact_synonym: Deficiency of Methionine Adenosyltransferase;   Hepatic Methionine Adenosyltransferase Deficiency;   Hypermethioninemia, Isolated Persistent;   MAT DEFICIENCY;   MAT I/III DEFICIENCY;   Methionine Adenosyltransferase Deficiency, Autosomal Recessive;   Methioninemia;   S-Adenosylhomocysteine Hydrolase Deficiency;   methionine adenosyltransferase I/III deficiency;   methionine adenosyltransferase deficiency;   methionine adenosyltransferase deficiency, autosomal dominant
 primary_id: MESH:C564683
 alt_id: OMIM:250850;   RDO:0012287;   RDO:0013557;   RDO:0014980
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hypermethioninemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adk adenosine kinase JBrowse link 15 3,033,535 3,435,888 RGD:8554872
G Ahcy adenosylhomocysteinase JBrowse link 3 150,587,833 150,603,057 RGD:11554173
RGD:8554872
G Gnmt glycine N-methyltransferase JBrowse link 9 16,565,274 16,568,626 RGD:11554173
G Mat1a methionine adenosyltransferase 1A JBrowse link 16 18,690,649 18,709,135 RGD:1599915
RGD:8554872
RGD:7240710
glycine N-methyltransferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnmt glycine N-methyltransferase JBrowse link 9 16,565,274 16,568,626 RGD:8554872
RGD:7240710
hypermethioninemia due to adenosine kinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adk adenosine kinase JBrowse link 15 3,033,535 3,435,888 RGD:7240710
RGD:8554872
RGD:11554173
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahcy adenosylhomocysteinase JBrowse link 3 150,587,833 150,603,057 RGD:7240710
RGD:8554872

Term paths to the root
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Term Annotations click to browse term
  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        inherited metabolic disorder 1808
          amino acid metabolic disorder 337
            hypermethioninemia 4
              glycine N-methyltransferase deficiency 1
              hypermethioninemia due to adenosine kinase deficiency 1
              hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 1
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          inherited metabolic disorder 1808
            amino acid metabolic disorder 337
              hypermethioninemia 4
                glycine N-methyltransferase deficiency 1
                hypermethioninemia due to adenosine kinase deficiency 1
                hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 1
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