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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. [ http://purl.obolibrary.org/obo/ECO_0007638 url:http://www.ednf.org/ url:http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html http://purl.obolibrary.org/obo/ECO_0007643 url:http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome http://purl.obolibrary.org/obo/ECO_0007644 url:https://www.ncbi.nlm.nih.gov/pubmed/23711271 http://purl.obolibrary.org/obo/ECO_0007637 url:http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome url:http://www.merriam-webster.com/medlineplus/ehlers-Danlos http://purl.obolibrary.org/obo/ECO_0007645 url:http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706 ]

Synonyms: Cutis hyperelastica elastic skin

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D004535
  • UMLS_CUI:C0013720
  • ICD10CM:Q79.6
  • GARD:6322
  • ICD9CM:756.83
  • NCI:C34568
  • SNOMEDCT_US_2020_09_01:268352002
  • OMIM:PS130000
Subsets

NCIthesaurus

comment

OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS].

has alternative id

DOID:14696

has obo namespace

disease_ontology

id

DOID:13359

Term relations

Subclass of: