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congenital contractural arachnodactyly

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
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. DA9 is a connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears.
Mondo Term and Equivalent IDs
MONDO:0007363:  congenital contractural arachnodactyly
DOID:0111595: 
GARD:0005899: 
MESH:C536211: 
NCIT:C129865: 
Orphanet:115: 
SCTID:205821003: 
UMLS:C0220668: