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GENE - TERM ANNOTATION REPORT

RGD ID: 12137866
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: TGFBR1
Name: transforming growth factor beta receptor 1
Acc ID: DOID:13359
Term: Ehlers-Danlos syndrome
Definition: A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome "DO" "DO", http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706 "DO" "DO", http://www.merriam-webster.com/medlineplus/ehlers-Danlos "DO" "DO", http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html "DO" "DO", https://www.ehlers-danlos.com/what-is-eds/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/23711271 "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.
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