| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. (Human Disease Ontology, DOID_12347) |
| External Link | http://purl.bioontology.org/ontology/SNOMEDCT/78314001 |
| Similar Terms | |
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2 genes associated with the Osteogenesis imperfecta phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
