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Metadata
ID DOID:13359
Name Ehlers-Danlos syndrome
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.
http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome, http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome, http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706, http://www.merriam-webster.com/medlineplus/ehlers-Danlos, http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html, https://www.ehlers-danlos.com/what-is-eds/, https://www.ncbi.nlm.nih.gov/pubmed/23711271
Xrefs

GARD:6322

ICD10CM:Q79.6

ICD9CM:756.83

MESH:D004535

MIM:PS130000

NCI:C34568

SNOMEDCT_US_2023_03_01:268352002

UMLS_CUI:C0013720

Alternateids

DOID:14696

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Cutis hyperelastica [EXACT]

elastic skin [EXACT]

Parent Relationships

is_a collagen disease

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