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GTR Home > Conditions/Phenotypes > Osteogenesis imperfecta type 7

Osteogenesis imperfecta type 7

Synonyms
CRTAP-Related Osteogenesis Imperfecta; OI type 2B; OI type 7; OI type IIB; OI type VII; OSTEOGENESIS IMPERFECTA, TYPE IIB; Osteogenesis Imperfecta Type VII; Osteogenesis imperfecta type 2B; Osteogenesis imperfecta, perinatal lethal autosomal recessive

Summary

Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006). [from OMIM]

Available tests

58 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (58 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CASP, LEPREL3, OI7, P3H5, CRTAP
    Summary: cartilage associated protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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