Term Name: | Beukes hip dysplasia |
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Synonyms: | Beukes familial hip dysplasia, Beukes type hip dysplasia, BFHD, Cilliers-Beighton syndrome, Premature degenerative osteoarthropathy of the hip |
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. |
Ontology: | Human Disease [DOID:0111367] ( DOID:0111367 ) |