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contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease.
Mondo Term and Equivalent IDs
MONDO:0008338:  contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
GARD:0013058: 
MESH:C566739: 
Orphanet:65743: 
UMLS:C1867440: