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GENE - TERM ANNOTATION REPORT

RGD ID: 14018267
Species: Sus scrofa
RGD Object: Gene
Symbol: BICD2
Name: BICD cargo adaptor 2
Acc ID: DOID:0050475
Term: Weill-Marchesani syndrome
Definition: A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Weill-Marchesani_syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome "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)
BICD2 ISOBICD2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal RecessivePMID:21208200 PMID:25741868 PMID:27751653 PMID:28635954
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