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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: Beals syndrome, Beals-Hecht syndrome, CCA, arachnodactyly, contractural Beals type, contractures, multiple with arachnodactyly, distal arthrogryposis type 9, ear anomalies-contractures-dysplasia of bone with kyphoscoliosis,
Xenbase Genes
:
fbn2
Other Model Organisms: AGR, 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)