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distal arthrogryposis type 2B1

Disease Summary
Associated Targets (5)
Tbio

4

Tchem

1


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. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures.
Mondo Term and Equivalent IDs
MONDO:0020820:  distal arthrogryposis type 2B1
DOID:0111600: