| Disease ID | Source | Name | Description |
| 617174 | OMIM | Ehlers-Danlos syndrome, periodontal type, 2 (EDSPD2) | A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD2 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. EDSPD2 transmission pattern is consistent with autosomal dominant inheritance. The disease is caused by variants affecting the gene represented in this entry. |
| 613783 | OMIM | Complement component C1s deficiency (C1SD) | A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. The disease is caused by variants affecting the gene represented in this entry. |