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GENE - TERM ANNOTATION REPORT

RGD ID: 68534
Species: Mus musculus
RGD Object: Gene
Symbol: Mtor
Name: mechanistic target of rapamycin kinase
Acc ID: DOID:9004356
Term: Smith-Kingsmore Syndrome
Definition: A rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip.
Definition Source(s): OMIM:616638
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)
Mtor ISOMTOR (Homo sapiens)7240710OMIM  
Mtor ISOMTOR (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndromePMID:21210909 PMID:23322780 PMID:23636326 PMID:24625776 PMID:24631838 PMID:25741868 PMID:25799227 PMID:25851998 PMID:26542245 PMID:26619011 PMID:27159400 PMID:27279227 PMID:27482884 PMID:27513193 PMID:27753196 PMID:27830187 PMID:28475857 PMID:28492532 PMID:28554332 PMID:28892148 PMID:29051493 PMID:29281825 PMID:31441589 PMID:31444548 PMID:32581362 PMID:33077954 PMID:34197453
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