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GENE - TERM ANNOTATION REPORT

RGD ID: 12690795
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Atp7a
Name: ATPase copper transporting alpha
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Atp7a ISOATP7A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:10570920 PMID:11241493 PMID:18414213 PMID:20045993 PMID:23281160 PMID:25741868 PMID:28492532
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