DO_rare_slim NCIthesaurus has material basis in disease has basis in distal arthrogryposis autosomal dominant disease physical disorder congenital contractural arachnodactyly MIM:121050 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. ORDO:115 NCI:C129865 Beals-Hecht syndrome CCA DOID:0111595 SNOMEDCT_US_2025_09_01:205821003 Beals syndrome UMLS_CUI:C0220668 MESH:C536211 arachnodactyly, contractural Beals type contractures, multiple with arachnodactyly disease_ontology distal arthrogryposis type 9 ear anomalies-contractures-dysplasia of bone with kyphoscoliosis autosomal dominant inheritance Abnormality of prenatal development or birth