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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: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
 xref: NCI:C123435
For additional species annotation, visit the Alliance of Genome Resources.


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hypermethioninemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypermethioninemia
CTD
ClinVar
PMID:26974671 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
G Gnmt glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11596649 PMID:11810299 NCBI chr 9:16,565,274...16,568,626
Ensembl chr 9:16,565,225...16,568,627
JBrowse link
G Mat1a methionine adenosyltransferase 1A ISO ClinVar Annotator: match by term: Hepatic methionine adenosyltransferase deficiency
ClinVar Annotator: match by term: Methionine adenosyltransferase deficiency, autosomal dominant
ClinVar Annotator: match by term: Methionine adenosyltransferase deficiency, autosomal recessive
ClinVar Annotator: match by OMIM:250850
ClinVar
OMIM
PMID:1527987 PMID:1683972 PMID:3812486 PMID:4421454 PMID:7229751 PMID:7560086 PMID:7573050 PMID:8770875 PMID:9042912 PMID:9482646 PMID:10677294 PMID:11278456 PMID:15935930 PMID:18500573 PMID:20675163 PMID:23425511 PMID:23430947 PMID:24231718 PMID:24445979 PMID:25638462 PMID:25741868 PMID:26289392 PMID:26933843 PMID:28186605 PMID:28492532 PMID:28748147 PMID:30389272, PMID:9042912 RGD:1599915 NCBI chr16:18,690,649...18,709,135
Ensembl chr16:18,690,246...18,709,133
JBrowse link
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 ClinVar Annotator: match by term: Glycine N-methyltransferase deficiency ClinVar
OMIM
PMID:11596649 PMID:11810299 PMID:14739680 PMID:25741868 PMID:28492532 NCBI chr 9:16,565,274...16,568,626
Ensembl chr 9:16,565,225...16,568,627
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Glycine N-methyltransferase deficiency ClinVar PMID:11810299 PMID:28492532 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
hypermethioninemia due to adenosine kinase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adk adenosine kinase ISO ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency
ClinVar Annotator: match by OMIM:614300
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21963049 PMID:25741868 PMID:26975589 PMID:28492532 NCBI chr15:3,033,535...3,435,888
Ensembl chr15:3,033,495...3,435,888
JBrowse link
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO ClinVar Annotator: match by term: Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency OMIM
ClinVar
PMID:15024124 PMID:18211827 PMID:19177456 PMID:19619139 PMID:20852937 PMID:25741868 PMID:28492532 PMID:28647132 PMID:28779239 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2355
          amino acid metabolic disorder 448
            hypermethioninemia 5
              glycine N-methyltransferase deficiency 2
              hypermethioninemia due to adenosine kinase deficiency 1
              hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            amino acid metabolic disorder 448
              hypermethioninemia 5
                glycine N-methyltransferase deficiency 2
                hypermethioninemia due to adenosine kinase deficiency 1
                hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 1
paths to the root