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GENE - TERM ANNOTATION REPORT

RGD ID: 732189
Species: Mus musculus
RGD Object: Gene
Symbol: Chst3
Name: carbohydrate sulfotransferase 3
Acc ID: DOID:0050813
Term: spondyloepiphyseal dysplasia with congenital joint dislocations
Definition: A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. (DO)
Definition Source(s): http://www.uniprot.org/diseases/DI-01753 "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)
Chst3 ISOCHST3 (Homo sapiens)7240710OMIM  
Chst3 ISOCHST3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Chst3 ISOCHST3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasia with congenital joint dislocationsPMID:112567 PMID:15098240 PMID:15215498 PMID:15368507 PMID:18513679 PMID:18698629 PMID:19320654 PMID:20830804 PMID:23918704 PMID:24300290 PMID:25741868 PMID:25741905 PMID:26402641 PMID:26572954 PMID:27753269 PMID:28492532 PMID:29453417 PMID:29620724 PMID:30200136 PMID:32639237 PMID:35583673 PMID:37183573 PMID:9039660
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