OBO ID: DOID:13359
Term Name: Ehlers-Danlos syndrome Search Ontology:
Synonyms:
  • Cutis hyperelastica
  • elastic skin
Definition: A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. (7)
References:
  • GARD:6322
  • ICD10CM:Q79.6
  • ICD9CM:756.83
  • MESH:D004535
  • NCI:C34568
  • OMIM:PS130000
  • SNOMEDCT_US_2022_03_01:268352002
  • UMLS_CUI:C0013720
Ontology: Human Disease   (DOID:13359)
OTHER Ehlers-Danlos syndrome PAGES
GENES INVOLVED No data available
PHENOTYPE No data available

CITATIONS (3)