| Disease ID | Source | Name | Description |
| 606690 | OMIM | Lymphangioleiomyomatosis (LAM) | Progressive and often fatal lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. It affects almost exclusively young women and can occur as an isolated disorder or in association with tuberous sclerosis complex. The disease is caused by variants affecting the gene represented in this entry. |
| 613254 | OMIM | Tuberous sclerosis 2 (TSC2) | An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes. The disease is caused by variants affecting the gene represented in this entry. |
| 607341 | OMIM | Focal cortical dysplasia 2 (FCORD2) | A form of focal cortical dysplasia, a malformation of cortical development that results in medically refractory epilepsy in the pediatric population and in adults. FCORD2 is a severe form, with onset usually in childhood, characterized by disrupted cortical lamination and specific cytological abnormalities. It is classified in 2 subtypes: type IIA characterized by dysmorphic neurons and lack of balloon cells; type IIB with dysmorphic neurons and balloon cells. The disease is caused by variants affecting the gene represented in this entry. |