- Avascular necrosis of the capital femoral epiphysis (HP:0005743): 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. Evidence: PCS. Frequency: 11/11. (PMID:15930420;PMID:21671384)
- Early young adult onset (HP:0025708): Onset of disease at an age of greater than or equal to 16 to under 19 years. Evidence: PCS. Frequency: 2/2. (PMID:15930420;PMID:21671384)
- Generalized osteoporosis (HP:0040160). Evidence: PCS. Frequency: 1/1. (PMID:21671384)
- Groin pain (HP:0031520): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region. Evidence: PCS. Frequency: 1/1. (PMID:15930420)
- Hip pain (HP:0030838): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip. Evidence: PCS. Frequency: 1/1. (PMID:21671384)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:15930420)
These phenotypes are associated with the disease avascular necrosis of femoral head, primary, 1 (OMIM:608805).