| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs. (Experimental Factor Ontology, EFO_0004213) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0000362 |
| Similar Terms | |
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2 genes associated with the otosclerosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
