| Disease ID | Source | Name | Description |
| 113300 | OMIM | Brachydactyly E1 (BDE1) | A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. Brachydactyly type E1 is characterized by shortening limited to fourth metacarpals and/or metatarsals. The disease is caused by variants affecting the gene represented in this entry. |
| 186000 | OMIM | Synpolydactyly 1 (SPD1) | Limb malformation that shows a characteristic manifestation in both hands and feet. This condition is inherited as an autosomal dominant trait with reduced penetrance. The disease is caused by variants affecting the gene represented in this entry. |
| 113200 | OMIM | Brachydactyly D (BDD) | A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type D is characterized by short and broad terminal phalanges of the thumbs and big toes. The disease is caused by variants affecting the gene represented in this entry. |
| 610713 | OMIM | Brachydactyly-syndactyly syndrome (BDSD) | A disease characterized by generalized shortening of the hands and feet, broad and short distal phalanges of the thumbs, and cutaneous syndactyly of toes 2 and 3. The limb phenotypes observed in this syndrome overlap those of brachydactyly types A4, D, E and syndactyly type 1. The disease is caused by variants affecting the gene represented in this entry. |
| 610713 | OMIM | Brachydactyly-syndactyly syndrome (BDSD) | A disease characterized by generalized shortening of the hands and feet, broad and short distal phalanges of the thumbs, and cutaneous syndactyly of toes 2 and 3. The limb phenotypes observed in this syndrome overlap those of brachydactyly types A4, D, E and syndactyly type 1. The disease is caused by variants affecting the gene represented in this entry. |
| 186300 | OMIM | Syndactyly 5 (SDTY5) | A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. The characteristic finding in SDTY5 is the presence of an associated metacarpal and metatarsal fusion. The metacarpals and metatarsals most commonly fused are the 4th and 5th or the 3rd and 4th. Soft tissue syndactyly usually affects the 3rd and 4th fingers and the 2nd and 3rd toes. The disease is caused by variants affecting the gene represented in this entry. |
| 192350 | OMIM | VACTERL association (VACTERL) | VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects. The gene represented in this entry may be involved in disease pathogenesis. |