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GENE - TERM ANNOTATION REPORT

RGD ID: 8833996
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Sox9
Name: SRY-box transcription factor 9
Acc ID: DOID:0050463
Term: campomelic dysplasia
Definition: An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Campomelic_dysplasia "DO" "DO", http://ghr.nlm.nih.gov/condition/campomelic-dysplasia "DO" "DO", http://www.healthline.com/galecontent/campomelic-dysplasia-1 "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)
Sox9 ISOSOX9 (Homo sapiens)7240710OMIM  
Sox9 ISOSOX9 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Acampomelic campomelic dysplasia | ClinVar Annotator: match by term: Acampomelic campomelic dysplasia with autosomal sex reversal | ClinVar Annotator: match by term: Campomelic Dysplasia | ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal | ClinVar Annotator: match by term: Camptomelic dysplasia | ClinVar Annotator: match by term: SOX9-related conditionPMID:10951468 PMID:11076045 PMID:11323423 PMID:11371614 PMID:12783851 PMID:12810722 PMID:15300742 PMID:15806394 PMID:16199547 PMID:17576681 PMID:1809232 PMID:19033726 PMID:19449405 PMID:19921652 PMID:20301724 PMID:20513132 PMID:21218044 PMID:21373255 PMID:21412441 PMID:21614988 PMID:23564514 PMID:24038782 PMID:24451061 PMID:25741868 PMID:25983619 PMID:26078652 PMID:26633542 PMID:26740947 PMID:27899157 PMID:28492532 PMID:29542186 PMID:31389106 PMID:32381727 PMID:32595695 PMID:34092239 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 PMID:9002675 PMID:9452058 PMID:9536098
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