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GTR Home > Conditions/Phenotypes > Osteogenesis imperfecta type 9

Osteogenesis imperfecta type 9

Synonyms
OI 9; Oi type IX; Osteogenesis Imperfecta Type IX; Osteogenesis imperfecta sillence type II/III without abnormality of type I collagen; PPIB-Related Osteogenesis Imperfecta

Summary

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX (OI9) is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009). [from OMIM]

Available tests

50 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (50 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CYP-S1, CYPB, HEL-S-39, OI9, SCYLP, PPIB
    Summary: peptidylprolyl isomerase B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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