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VARIANT - TERM ANNOTATION REPORT

RGD ID: 405183511
Species: Homo sapiens
RGD Object: Variant
Symbol: CV2899806
Name: NM_003482.4(KMT2D):c.6184-3C>T
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): http://ghr.nlm.nih.gov/condition/kabuki-syndrome "DO" "DO", https://en.wikipedia.org/wiki/Kabuki_syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25281733 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25972376 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/26512256 "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)
CV2899806 IAGP 8554872ClinVarClinVar Annotator: match by term: Kabuki syndromePMID:17576681 PMID:28492532 PMID:9536098
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