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DO Term : Ehlers-Danlos syndrome [DOID:13359] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ICD10CM:Q79.6,
  • PS130000,
  • MESH:D004535,
  • ICD9CM:756.83,
  • NCI:C34568,
  • Cutis hyperelastica,
  • elastic skin,
  • GARD:6322,
  • SNOMEDCT_US_2023_03_01:268352002,
  • DOID:14696,
  • OMIM:PS130000,
  • UMLS_CUI:C0013720
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents