| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| 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) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0011862 |
| Similar Terms | |
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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.
| Symbol | Name |
|---|---|
| P3H1 | prolyl 3-hydroxylase 1 |
