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Summary Literature (0)
DOID:0111595 - congenital contractural arachnodactyly

Disease Ontology Definition:A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3.

Synonyms: arachnodactyly, contractural Beals type, Beals-Hecht syndrome, Beals syndrome, CCA, contractures, multiple with arachnodactyly, distal arthrogryposis type 9, ear anomalies-contractures-dysplasia of bone with kyphoscoliosis

Xenbase Genes : fbn2


MIM:
MIM:121050 - CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), distal arthrogryposis (is_a), physical disorder (is_a)