DOID:13359: Difference between revisions
From FANTOM5_SSTAR
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|id=DOID:13359
|name=Ehlers-Danlos syndrome
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|def="A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bru...") |
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|id=DOID:13359 | |id=DOID:13359 | ||
|name=Ehlers-Danlos syndrome | |name=Ehlers-Danlos syndrome | ||
|namespace= | |namespace=disease_ontology | ||
|def="A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising." [url:http\://emedicine.medscape.com/article/1114004-overview, url:http\://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome, url:http\://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome, url:http\://www.ednf.org/, url:http\://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706, url:http\://www.medicinenet.com/ehlers-danlos_syndrome/article.htm, url:http\://www.merriam-webster.com/medlineplus/ehlers-Danlos, url:http\://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html] | |def="A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising." [url:http\://emedicine.medscape.com/article/1114004-overview, url:http\://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome, url:http\://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome, url:http\://www.ednf.org/, url:http\://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706, url:http\://www.medicinenet.com/ehlers-danlos_syndrome/article.htm, url:http\://www.merriam-webster.com/medlineplus/ehlers-Danlos, url:http\://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html] | ||
|xref= | |xref=ICD9CM:756.83;;MSH:D004535;;NCI:C34568;;OMIM:225400;;SNOMEDCT_2010_1_31:157008000;;SNOMEDCT_2010_1_31:2300005;;SNOMEDCT_2010_1_31:238848002;;SNOMEDCT_2010_1_31:268352002;;SNOMEDCT_2010_1_31:398114001;;UMLS_CUI:C0013720 | ||
|is_a=DOID:854 | |is_a=DOID:854 | ||
|synonym="Cutis hyperelastica" EXACT [SNOMEDCT_2005_07_31:238848002];;"elastic skin" EXACT [CSP2005:1849-3115] | |synonym="Cutis hyperelastica" EXACT [SNOMEDCT_2005_07_31:238848002];;"elastic skin" EXACT [CSP2005:1849-3115] | ||
|comment= | |comment=OMIM mapping confirmed by DO. [LS]. | ||
|alt_id=DOID:14696 | |alt_id=DOID:14696 | ||
|disjoint_from= | |disjoint_from= | ||
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|part_of= | |part_of= | ||
|property_value=IAO:0000412 file:/Users/cjm/Dropbox/fantom5/HumanDO.obo | |||
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Revision as of 13:59, 11 June 2012
| Name: | Ehlers-Danlos syndrome | ||
|---|---|---|---|
| Namespace: | disease_ontology | ||
| Definition: | "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising." [url:http\://emedicine.medscape.com/article/1114004-overview, url:http\://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome, url:http\://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome, url:http\://www.ednf.org/, url:http\://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706, url:http\://www.medicinenet.com/ehlers-danlos_syndrome/article.htm, url:http\://www.merriam-webster.com/medlineplus/ehlers-Danlos, url:http\://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html] | ||
| Xrefs: |
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| Synonyms: |
"Cutis hyperelastica" EXACT [SNOMEDCT_2005_07_31:238848002] "elastic skin" EXACT [CSP2005:1849-3115] | ||
| Comments: | OMIM mapping confirmed by DO. [LS]. | ||
| Alt_id: | DOID:14696 |
Ontology association<br>Each term has an is_a parent in the Disease Ontology, which has a linkage to an another entity and FANTOM5 samples.Libraries were grouped into mutually exclusive facets according to the FANTOM5 sample ontology mapping to DISEASE ontologies.<br><br>link to ontology dataset<br>data
Parents
| is_a: | DOID:854(collagen disease) |
|---|
Children
| is a: | FF:10576-108B9 () |
|---|
Ontology Tree: Loaded from BioPortal
Ontorolgy tree(Small window open)
FF samples
Human (Homo sapiens)
Mouse (Mus musculus)
Enrichment analysis: top 100 FFCP enriched with this ontology termTOP 100 FANTOM5 Cage Peaks enriched with DOID:13359 (Ehlers-Danlos syndrome), sorted by p-values <br>Analyst: Hideya Kawaji<br><br>link to source dataset <br>human : data <br>mouse : data
No analysis results
