Beukes hip dysplasia

Term ID

DOID:0111367

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. https://www.ncbi.nlm.nih.gov/pubmed/26428751

References

• GARD:2690
• MESH:C564185
• OMIM:142669
• ORDO:2114
• SNOMEDCT_US_2023_03_01:721148005
• UMLS_CUI:C1840572

Ontology

Human Disease   ( DOID:0111367 )