loading...| Preferred Name |
otosclerosis |
| Synonyms |
otosclerosis (disease) otosclerosis |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0005349 |
| database_cross_reference |
SCTID:11543004 Orphanet:2794 HP:0000362 NCIT:C185242 OMIMPS:166800 EFO:0004213 ICD9:387 ICD9:387.8 DOID:12185 MESH:D010040 ICD9:387.9 UMLS:C0029899 |
| 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. |
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0029899 http://identifiers.org/snomedct/11543004 http://purl.obolibrary.org/obo/DOID_12185 https://omim.org/phenotypicSeries/PS166800 |
| has_exact_synonym |
otosclerosis (disease) otosclerosis |
| IAO_0000589 |
otosclerosis (disease) |
| id |
MONDO:0005349 |
| label |
otosclerosis |
| notation |
MONDO:0005349 |
| prefLabel |
otosclerosis |
| treeView |
http://purl.obolibrary.org/obo/MONDO_0037940 |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0037940 |