| Disease ID | Source | Name | Description |
| 147891 | OMIM | Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS) | An autosomal dominant bone disease characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. The disease is caused by variants affecting the gene represented in this entry. |
| 601360 | OMIM | Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome (PAPPAS) | An autosomal recessive, lethal embryonic syndrome characterized by absent hindlimbs, pulmonary hypoplasia, severely hypoplastic or absent pelvic bones, hypoplasia of the sacrum, and ambiguous genitalia. The disease may be caused by variants affecting the gene represented in this entry. |