Beukes hip dysplasia

Summary

DOID:0111367 - Beukes hip dysplasia

Disease Ontology 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.

Synonyms: Beukes familial hip dysplasia, Beukes type hip dysplasia, BFHD, Cilliers-Beighton syndrome, Premature degenerative osteoarthropathy of the hip

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ufsp2

MIM:

MIM:142669 - BEUKES HIP DYSPLASIA; HDB

MIM:142669 - BEUKES HIP DYSPLASIA; HDB

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), osteoarthritis (is_a)