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GENE - TERM ANNOTATION REPORT

RGD ID: 16551567
Species: Homo sapiens
RGD Object: Gene
Symbol: AC092384.1
Name: novel transcript, antisense to CBFA2T3
Acc ID: DOID:14780
Term: KBG syndrome
Definition: A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. (DO)
Definition Source(s): http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=KBG%20Syndrome "DO" "DO", https://www.kbgfoundation.com/home.html "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)
AC092384.1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: KBG syndromePMID:31690835
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