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Ehlers-Danlos syndrome due to tenascin-X deficiency

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCLL patients lack atrophic scars, a major diagnostic criteria for classic Ehlers-Danlos syndrome. Delayed wound healing is only present in a subset of patients. EDSCLL inheritance is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0011670:  Ehlers-Danlos syndrome due to tenascin-X deficiency
GARD:0008507: 
MESH:C536193: 
Orphanet:230839: 
UMLS:C1848029: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found