The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. [ http://www.ncbi.nlm.nih.gov/pubmed/28306229 ]
Synonyms: Danlos disease Disease, Ehlers-Danlos Danlos Disease, Ehlers Syndrome, Ehlers-Danlos Ehler Danlos Syndrome Meekeren-Ehlers-Danlos syndrome Ehlers-Danlos syndromes Fibrodysplasia elastica generalisata Dystrophia mesodermalis congenita elastic skin Ehlers Danlos Disease danlos ehlers syndrome skin elastic Ehlers-Danlos Disease EDS Ehlers Danlos syndrome Hereditary collagen dysplasia Disease, Ehlers Danlos
Term information
- ICD9:756.83 (MONDO:i2s)
- Orphanet:98249 (MONDO:equivalentTo)
- MedDRA:10014316 (Orphanet:98249/e)
- ICD10CM:Q79.6 (Orphanet:98249/specific)
- DOID:13359 (MONDO:equivalentTo)
- SCTID:398114001 (MONDO:equivalentTo)
- NORD:1080 (MONDO:NORD)
- UMLS:C0013720 (Orphanet:98249/e)
- OMIMPS:130000 (MONDO:equivalentTo)
- NCIT:C34568 (MONDO:equivalentTo)
- GARD:6322 (Orphanet:98249)
- MESH:D004535 (Orphanet:98249/e)
gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, ordo_group_of_disorders
http://identifiers.org/mesh/D004535
https://omim.org/phenotypicSeries/PS130000
http://linkedlifedata.com/resource/umls/id/C0013720
http://purl.obolibrary.org/obo/NCIT_C34568
http://purl.obolibrary.org/obo/DOID_13359
http://identifiers.org/snomedct/398114001
http://www.orpha.net/ORDO/Orphanet_98249
http://purl.bioontology.org/ontology/ICD10CM/Q79.6
http://purl.obolibrary.org/obo/MONDO_0019292
http://purl.obolibrary.org/obo/MONDO_0023603