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Ehlers-Danlos syndrome, musculocontractural type 1

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


Uniprot Description A form of Ehlers-Danlos syndrome characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement.
Mondo Term and Equivalent IDs
MONDO:0020681:  Ehlers-Danlos syndrome, musculocontractural type 1
NCIT:C168975: