|Dataset||HPO Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity. (Human Phenotype Ontology, HP_0011862)|
|Downloads & Tools|
1 genes associated with the abnormal bone collagen fibril morphology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
|P3H1||prolyl 3-hydroxylase 1|