Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B200edce1c2339a35c3c91ab523393543> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B200edce1c2339a35c3c91ab523393543 hasDbXref "Orphanet:2114" @default.
- B200edce1c2339a35c3c91ab523393543 type Axiom @default.
- B200edce1c2339a35c3c91ab523393543 annotatedProperty IAO_0000115 @default.
- B200edce1c2339a35c3c91ab523393543 annotatedSource MONDO_0007726 @default.
- B200edce1c2339a35c3c91ab523393543 annotatedTarget "Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing." @default.