| Disease ID | Source | Name | Description |
| 217085 | OMIM | Congenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP) | A disease characterized by a constellation of anomalies including tongue hamartomas, polysyndactyly, and congenital heart defects such as atrioventricular canal and coarctation of the aorta. The disease is caused by variants affecting the gene represented in this entry. |
| 615992 | OMIM | Bardet-Biedl syndrome 15 (BBS15) | A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. The disease is caused by variants affecting the gene represented in this entry. |