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Disease Ontology Browser
congenital contractural arachnodactyly (DOID:0111595)
Alliance: disease page
Synonyms: arachnodactyly, contractural Beals type; Beals syndrome; Beals-Hecht syndrome; CCA; contractures, multiple with arachnodactyly; distal arthrogryposis type 9; ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
Alt IDs: OMIM:121050, MESH:C536211, NCI:C129865, ORDO:115, UMLS_CUI:C0220668
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory