Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111367 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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