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arthrogryposis, Perthes disease, and upward gaze palsy

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description An autosomal recessive, syndromic form of arthrogryposis, a disease characterized by persistent joints flexure or contracture. APUG patients manifest an unusual combination of arthrogryposis, upward gaze palsy, and avascular necrosis of the hip (Perthes disease).
Mondo Term and Equivalent IDs
MONDO:0013660:  arthrogryposis, Perthes disease, and upward gaze palsy
UMLS:C3280309: