Cell Culture Ontology

Last uploaded: July 23, 2014
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.

ID

http://purl.obolibrary.org/obo/MONDO_0021944

curated_content_resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0021944

database_cross_reference

UMLS:C1852271

MEDGEN:338895

SCTID:443805006

NCIT:C116364

MESH:C538268

OMIMPS:609129

GARD:9274

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

auditory neuropathy spectrum disorder

auditory neuropathy

auditory dys-synchrony

ANSD

has_narrow_synonym

progressive auditory neuropathy

familial auditory neuropathy

id

MONDO:0021944

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

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

label

auditory neuropathy

notation

MONDO:0021944

preferred label

auditory neuropathy

prefLabel

auditory neuropathy

see also

https://rarediseases.info.nih.gov/diseases/9274/auditory-neuropathy

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

https://omim.org/phenotypicSeries/PS609129

http://identifiers.org/medgen/338895

subClassOf

http://www.ebi.ac.uk/efo/EFO_0004238

http://purl.obolibrary.org/obo/MONDO_0037940

http://purl.obolibrary.org/obo/MONDO_0100545

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