FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Beukes hip dysplasia ID (Ontology) DOID:0111367 (Human Disease)
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.
Also Known As "Beukes familial hip dysplasia" ; "Beukes type hip dysplasia" ; "BFHD" (for all, see Synonyms field below)
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 Genes
 Beukes hip dysplasia       1
 for disease ribbon | Beukes hip dysplasia       1
 model of | Beukes hip dysplasia       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
bone development disease        |
 |__osteochondrodysplasia_______|
cartilage disease               |
 |__osteochondrodysplasia_______|
                                Beukes hip dysplasia  1 rec.
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Is a autosomal dominant disease
osteochondrodysplasia
Part of
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Synonyms
  • "Beukes familial hip dysplasia" EXACT
    "Beukes type hip dysplasia" EXACT
    "BFHD" EXACT OMO:0003012
    "Cilliers-Beighton syndrome" EXACT
    "Premature degenerative osteoarthropathy of the hip" EXACT
Secondary IDs
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GARD:2690
MESH:C564185
MIM:142669
ORDO:2114
SNOMEDCT_US_2023_03_01:721148005
UMLS_CUI:C1840572