otosclerosis
MONDO:0005349Mondo
Findings
No curated finding names otosclerosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0005349), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SMARCA4HGNC:11100
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: otosclerosis
- Also called
- otosclerosis (disease)