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dentinogenesis imperfecta type 2

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth.
Uniprot Description A form of dentinogenesis imperfecta, an autosomal dominant dentin disorder characterized by amber-brown, opalescent teeth that fracture and shed their enamel during mastication, thereby exposing the dentin to rapid wear. Radiographically, the crown appears bulbous and pulpal obliteration is common. The pulp chambers are initially larger than normal prior and immediately after tooth eruption, and then progressively close down to become almost obliterated by abnormal dentin formation. Roots are short and thin. Both primary and permanent teeth are affected. DGI2 is not associated with osteogenesis imperfecta.
Mondo Term and Equivalent IDs
MONDO:0007441:  dentinogenesis imperfecta type 2
GARD:0012796: 
Orphanet:166260: