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Experimental Factor Ontology
Preferred Name | auditory neuropathy | |
Synonyms |
progressive auditory neuropathy familial auditory neuropathy auditory neuropathy spectrum disorder auditory neuropathy auditory dys-synchrony ANSD |
|
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. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0021944 |
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curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0021944 |
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database_cross_reference |
UMLS:C1852271 MEDGEN:338895 SCTID:443805006 NCIT:C116364 MESH:C538268 OMIMPS:609129 GARD:9274
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|
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.
|
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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 |
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has_exact_synonym |
auditory neuropathy spectrum disorder auditory neuropathy auditory dys-synchrony ANSD
|
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has_narrow_synonym |
progressive auditory neuropathy familial auditory neuropathy
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|
id |
MONDO:0021944
|
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in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar |
|
label |
auditory neuropathy
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|
notation |
MONDO:0021944
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preferred label |
auditory neuropathy
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|
prefLabel |
auditory neuropathy
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see also |
https://rarediseases.info.nih.gov/diseases/9274/auditory-neuropathy |
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subClassOf |
http://www.ebi.ac.uk/efo/EFO_0004238 |
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