Terminology Service for NFDI4Health
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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 ]

Term info

Label

Ehlers-Danlos syndrome

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

gard_rare, disease_grouping, ordo_group_of_disorders

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, https://icd.codes/icd10cm/Q79.6, http://purl.obolibrary.org/obo/DOID_13359, http://identifiers.org/snomedct/398114001, http://purl.obolibrary.org/obo/Orphanet_98249

excluded synonym

Cutis hyperelastica, India rubber skin

has related synonym

ED syndrome

id

MONDO:0020066