| Disease ID | Source | Name | Description |
| 613611 | OMIM | Choanal atresia and lymphedema (CATLPH) | A disease characterized by posterior choanal atresia and lymphedema. Additional features are a high-arched palate, hypoplastic nipples, and mild pectus excavatum. The disease is caused by variants affecting the gene represented in this entry. A homozygous deletion in PTPN14 predicted to result in frameshift and premature truncation, has been shown to be the cause of choanal atresia and lymphedema in one family. |