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GENE - TERM ANNOTATION REPORT

RGD ID: 11696213
Species: Pan paniscus
RGD Object: Gene
Symbol: FN1
Name: fibronectin 1
Acc ID: DOID:0080028
Term: spondyloepimetaphyseal dysplasia, Strudwick type
Definition: A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia,_Strudwick_type "DO" "DO", http://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type "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)
FN1 ISOFN1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasiaPMID:15666313 PMID:1677003 PMID:25741868 PMID:28492532 PMID:29100092 PMID:30599297 PMID:32200603 PMID:33605604
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