Osteogenesis imperfecta type 5 Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term). (Orphanet Rare Disease Ontology, Orphanet_216828)
External Link http://www.omim.org/entry/610967
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Genes

1 genes associated with the Osteogenesis imperfecta type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
IFITM5 interferon induced transmembrane protein 5