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GENE - TERM ANNOTATION REPORT

RGD ID: 1550457
Species: Mus musculus
RGD Object: Gene
Symbol: Copb2
Name: COPI coat complex subunit beta 2
Acc ID: DOID:14778
Term: blepharophimosis, ptosis, and epicanthus inversus syndrome
Definition: A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in the FOXL2 gene on chromosome 3q22.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11175783 "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)
Copb2 ISOCOPB2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome 
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