| Disease ID | Source | Name | Description |
| 617561 | OMIM | Cohen-Gibson syndrome (COGIS) | An autosomal dominant overgrowth disorder characterized by accelerated osseous maturation, advanced bone age, skeletal abnormalities including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, scoliosis, cervical spine anomalies, dysmorphic facial features, and variable intellectual disability. The disease is caused by variants affecting the gene represented in this entry. |