avascular necrosis of the capital femoral epiphysis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature. (Human Phenotype Ontology, HP_0005743)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005743
Similar Terms
Downloads & Tools

Genes

4 genes associated with the avascular necrosis of the capital femoral epiphysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CREBBP CREB binding protein
TRPS1 trichorhinophalangeal syndrome I