You are using an outdated browser. Please upgrade your browser to improve your experience.

Ehlers-Danlos syndrome, progeroid type 1

Disease Summary
Associated Targets (2)
Tbio

2


Uniprot Description A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome.
Mondo Term and Equivalent IDs
MONDO:0020682:  Ehlers-Danlos syndrome, progeroid type 1