FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

Ehlers-Danlos syndrome
Synonyms
Definitions

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.
ID

http://purl.obolibrary.org/obo/DOID_13359
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.
imported from

http://purl.obolibrary.org/obo/doid.owl
label

Ehlers-Danlos syndrome
prefixIRI

DOID:13359
prefLabel

Ehlers-Danlos syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_854
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http://purl.obolibrary.org/obo/DOID_13359 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_13359 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_13359 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_13359 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_13359 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_13359 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_13359 MIDO SAME_URI
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