Beukes hip dysplasia (DOID:0111367)
Alliance: disease page
Synonyms: Beukes familial hip dysplasia; Beukes type hip dysplasia; BFHD; Cilliers-Beighton syndrome; Premature degenerative osteoarthropathy of the hip
Alt IDs: OMIM:142669, MESH:C564185, ORDO:2114, UMLS_CUI:C1840572
Definition: An osteoarthritis characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1.