OBO ID: DOID:0111367
Term Name: Beukes hip dysplasia Search Ontology:
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 )
OTHER Beukes hip dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
UFSP2 ?Hip dysplasia, Beukes type 142669
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None