| Dataset | MPO Gene-Phenotype 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://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004897 |
| Similar Terms | |
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2 gene mutations causing the otosclerosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
