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 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
References
Ontology
Human Disease   ( DOID:0111367 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.