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gnathodiaphyseal dysplasia

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0008151:  gnathodiaphyseal dysplasia
DOID:0111533: 
GARD:0008698: 
MESH:C536039: 
Orphanet:53697: 
SCTID:715568002: 
UMLS:C1833736: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)