| Metadata | |
|---|---|
| ID | DOID:0111367 |
| Name | Beukes hip dysplasia |
| Definition | An osteochondrodysplasia that is 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:721148005 |
| Subsets |
DO_rare_slim |
| Synonyms |
Beukes familial hip dysplasia [EXACT] Beukes type hip dysplasia [EXACT] BFHD [EXACT] Cilliers-Beighton syndrome [EXACT] Premature degenerative osteoarthropathy of the hip [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has location some hip disease has location some femur has material basis in some autosomal dominant inheritance disease has feature some osteoarthritis |