loading...| Preferred Name | auditory neuropathy | |
| Synonyms |
progressive auditory neuropathy familial auditory neuropathy ANSD auditory neuropathy spectrum disorder auditory dys-synchrony auditory neuropathy |
|
| Definitions |
A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception. Editor note: OMIMPS seems to refer to a more restricted concept |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0021944 |
|
| comment |
Editor note: OMIMPS seems to refer to a more restricted concept |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0021944 |
|
| database_cross_reference |
GARD:9274 MESH:C538268 SCTID:443805006 MEDGEN:338895 NCIT:C116364 UMLS:C1852271 OMIMPS:609129 |
|
| definition |
A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception. |
|
| has_exact_synonym |
ANSD auditory neuropathy spectrum disorder auditory dys-synchrony auditory neuropathy |
|
| has_narrow_synonym |
progressive auditory neuropathy familial auditory neuropathy |
|
| id |
MONDO:0021944 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#rare |
|
| label |
auditory neuropathy |
|
| notation |
MONDO:0021944 |
|
| prefLabel |
auditory neuropathy |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/9274/auditory-neuropathy |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C116364 http://identifiers.org/mesh/C538268 http://linkedlifedata.com/resource/umls/id/C1852271 http://identifiers.org/snomedct/443805006 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0037940 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0037940 |