Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


CRRD ID: 1303274
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Dnmt3b
Name: DNA methyltransferase 3 beta
Acc ID: DOID:0060473
Term: Kabuki syndrome
Definition: A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. (DO)
Definition Source(s):,,,,
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISOCRRD:16060378554872ClinVarClinVar Annotator: match by term: Kabuki syndrome 1

PMID:25741868, PMID:28492532, PMID:29255178
Go Back to source page   Continue to Ontology report


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