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Ehlers-Danlos syndrome, dermatosparaxis type

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.
Uniprot Description A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSDERMS is an autosomal recessive form characterized by extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age.
Mondo Term and Equivalent IDs
MONDO:0009161:  Ehlers-Danlos syndrome, dermatosparaxis type
GARD:0002089: 
MESH:C567527: 
Orphanet:1901: 
SCTID:55711009: