About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory