Terminology Service for NFDI4Health

Ehlers-Danlos syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_13359


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 http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007643 http://purl.obolibrary.org/obo/ECO_0007644 ]

Term info

Label

Ehlers-Danlos syndrome

Synonyms
  • Cutis hyperelastica
  • elastic skin
database cross reference
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

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