| Disease ID | Source | Name | Description |
| 166260 | OMIM | Gnathodiaphyseal dysplasia (GDD) | Rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity. The disease is caused by variants affecting the gene represented in this entry. |
| 611307 | OMIM | Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) | An autosomal recessive degenerative myopathy characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. The disease is caused by variants affecting the gene represented in this entry. |
| 613319 | OMIM | Miyoshi muscular dystrophy 3 (MMD3) | A late-onset muscular dystrophy characterized by distal muscle weakness of the lower limbs, calf muscle discomfort and weakness, quadriceps atrophy. Muscle weakness and atrophy may be asymmetric. The disease is caused by variants affecting the gene represented in this entry. |