loading...| Preferred Name | Deafness, autosomal dominant, 3B | |
| Synonyms |
DFNA3B |
|
| Definitions |
(DFNA3B) - A form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. |
|
| ID |
http://identifiers.org/omim/612643 |
|
| altLabel |
DFNA3B |
|
| definition |
(DFNA3B) - A form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. |
|
| id |
OMIM:612643 |
|
| notation |
OMIM:612643 |
|
| prefLabel |
Deafness, autosomal dominant, 3B |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://identifiers.org/omim/612643 | GEXO | SAME_URI | |
| http://identifiers.org/omim/612643 | RETO | SAME_URI | |
| http://phenomebrowser.net/ontologies/mesh/mesh.owl#C567215 | RH-MESH | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/612643 | OMIM | LOOM | |
| http://identifiers.org/omim/612643 | GEXO | LOOM | |
| http://identifiers.org/omim/612643 | RETO | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C567215 | MESH | LOOM | |
| http://purl.obolibrary.org/obo/OMIM_612643 | CCO | LOOM |