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DOID:13359

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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:
links:

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
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