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GENE - TERM ANNOTATION REPORT

RGD ID: 1625964
Species: Mus musculus
RGD Object: Gene
Symbol: Mir496a
Name: microRNA 496a
Acc ID: DOID:0111712
Term: Kagami-Ogata syndrome
Definition: A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10951461 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/12938037 "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)
Mir496a ISOMIR496 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Paternal uniparental disomy 14PMID:18176563
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