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GENE - TERM ANNOTATION REPORT

RGD ID: 1318581
Species: Mus musculus
RGD Object: Gene
Symbol: Mtrr
Name: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Acc ID: DOID:14250
Term: Down syndrome
Definition: A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Down_syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/down-syndrome "DO" "DO", http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx "DO" "DO", http://www.omim.org/entry/190685?search=down%20syndrome&highlight=down%20syndromic%20syndrome "DO" "DO", https://research.nhgri.nih.gov/atlas/condition/trisomy-21 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Mtrr ISOMTRR (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Down syndrome, susceptibility toPMID:10444342 PMID:10500018 PMID:10930360 PMID:12375236 PMID:12923861 PMID:15979034 PMID:25227144 PMID:25741868 PMID:28492532 PMID:9501215
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