crumpled long bones Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An crumpled radiographic appearance of the long bones, as is the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta. (Human Phenotype Ontology, HP_0006367)
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3 genes associated with the crumpled long bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
CRTAP cartilage associated protein