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GENE - TERM ANNOTATION REPORT

RGD ID: 2375
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col2a1
Name: collagen type II alpha 1 chain
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)
Col2a1 ISOCOL2A1 (Homo sapiens)7240710OMIM  
Col2a1 ISOCOL2A1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Col2a1 ISOCOL2A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SMED Strudwick type | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasiaPMID:15895462 PMID:16088915 PMID:17078022 PMID:17347327 PMID:17509551 PMID:18272325 PMID:18276201 PMID:1905723 PMID:19344236 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26467025 PMID:26626311 PMID:28492532 PMID:30138938 PMID:30792901 PMID:33249554 PMID:34008892 PMID:34394176 PMID:7550321 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8423604 PMID:8486375 PMID:8702139 PMID:8723096 PMID:8893763 PMID:9016532
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