Disease ID | Source | Name | Description |
119900 | OMIM | Isolated congenital nail clubbing (ICNC) | A rare genodermatosis characterized by enlargement of the nail plate and terminal segments of the fingers and toes, resulting from proliferation of the connective tissues between the nail matrix and the distal phalanx. It is usually symmetrical and bilateral (in some cases unilateral). In nail clubbing usually the distal end of the nail matrix is relatively high compared to the proximal end, while the nail plate is complete but its dimensions and diameter more or less vary in comparison to normal. There may be different fingers and toes involved to varying degrees. Some fingers or toes are spared, but the thumbs are almost always involved. The disease is caused by variants affecting the gene represented in this entry. |
259100 | OMIM | Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 (PHOAR1) | 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. |
259100 | OMIM | Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 (PHOAR1) | 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. |