Disease ID | Source | Name | Description |
614441 | OMIM | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) | A disease characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. Other developmental anomalies include delayed closure of the cranial sutures and congenital heart disease. The disease is caused by variants affecting the gene represented in this entry. |