JSON

Ehlers-Danlos syndrome

^ 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. [ PMID:28306229 ]

Term info

database cross reference
  • Orphanet:98249 (MONDO:equivalentTo)
  • NCIT:C34568 (MONDO:equivalentTo)
  • MedDRA:10014316 (Orphanet:98249/e)
  • GARD:0006322 (MONDO:equivalentTo)
  • SCTID:398114001 (MONDO:equivalentTo)
  • ICD10CM:Q79.6 (Orphanet:98249/specific)
  • DOID:13359 (MONDO:equivalentTo)
  • MESH:D004535 (Orphanet:98249/e)
  • UMLS:C0013720 (Orphanet:98249/e)
  • OMIMPS:130000 (MONDO:equivalentTo)
  • ICD9:756.83 (MONDO:i2s)
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

abbreviation
EDS [ MedGen:41720 PMID:28306229 ICD11:LD08.1 UMLS:C0013720 GARD:0006322 ]

IAO 0000233

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

closeMatch

http://identifiers.org/meddra/10014316

definition

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.

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://purl.obolibrary.org/obo/DOID_13359, http://identifiers.org/snomedct/398114001, http://purl.obolibrary.org/obo/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 exact synonym

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

has related synonym

ED syndrome

id

MONDO:0020066