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hip dysplasia, Beukes type

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.
Uniprot Description A severe progressive degenerative osteoarthritis of the hip joint with underlying dysplasia confined to that region. Affected individuals are of normal stature and have no associated health problems.
Mondo Term and Equivalent IDs
MONDO:0007726:  hip dysplasia, Beukes type
DOID:0111367: 
GARD:0002690: 
MESH:C564185: 
Orphanet:2114: 
SCTID:721148005: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found