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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:28492532 NCBI chr 9:16,565,274...16,568,626
Ensembl chr 9:16,565,225...16,568,627
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:16736098, PMID:19177456, PMID:19619139, PMID:20852937, PMID:22959829, PMID:25741868, PMID:26095522, PMID:26527160, PMID:28492532, 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 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          amino acid metabolic disorder 433
            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 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            amino acid metabolic disorder 433
              hypermethioninemia 4
                glycine N-methyltransferase deficiency 1
                hypermethioninemia due to adenosine kinase deficiency 1
                hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.