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Ehlers-Danlos syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0020066

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 elastic skin Dystrophia mesodermalis congenita Fibrodysplasia elastica generalisata danlos ehlers syndrome Ehlers Danlos Disease skin elastic Ehlers-Danlos Disease EDS Ehlers Danlos syndrome Hereditary collagen dysplasia Ehlers Danlos Syndrome Disease, Ehlers Danlos

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:98249 (MONDO:equivalentTo)
  • MEDGEN:41720 (MONDO:equivalentTo)
  • ICD10CM:Q79.6 (Orphanet:98249/specific)
  • icd11.foundation:1122707206 (Orphanet:98249)
  • NANDO:1200645 (https://orcid.org/0000-0003-0011-764X)
  • SCTID:398114001 (MONDO:equivalentTo)
  • MedDRA:10014316 (Orphanet:98249/e)
  • OMIMPS:130000 (MONDO:equivalentTo)
  • UMLS:C0013720 (MONDO:equivalentTo)
  • NANDO:2200607 (https://orcid.org/0000-0003-0011-764X)
  • ICD9:756.83 (MONDO:i2s)
  • DOID:13359 (MONDO:equivalentTo)
  • NCIT:C34568 (MONDO:equivalentTo)
  • NORD:1080 (MONDO:NORD)
  • MESH:D004535 (Orphanet:98249/e)
  • GARD:6322 (MONDO:GARD)
Subsets

gard_rare, otar, disease_grouping, rare, nord_rare, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5682

closeMatch

http://identifiers.org/meddra/10014316

exactMatch

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://identifiers.org/medgen/41720

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

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019292

http://purl.obolibrary.org/obo/MONDO_0023603

excluded synonym

Cutis hyperelastica

India rubber skin

has related synonym

ED syndrome

id

MONDO:0020066