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GENE - TERM ANNOTATION REPORT

RGD ID: 8712514
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Fzd2
Name: frizzled class receptor 2
Acc ID: DOID:0060765
Term: autosomal dominant Robinow syndrome 2
Definition: A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. (DO)
Definition Source(s): PMID:25817014 "DO" "DO", PMID:26924530 "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)
Fzd2 ISOFZD2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2PMID:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:29276006 PMID:30455931 PMID:35047859
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