Synonyms: Aplasia of the cochlear nerve, Absent cochlear nerve, Absence of cochlear nerve
Definition (free text, please give PubMed ID): A developmental defect causing an absence of the cochlear nerve resulting in sensorineural hearing loss (PMID: 37591623)
Parent term (use hpo.jax.org/app): Abnormality of the cochlear nerve [HP:0011396]
Diseases characterized by this term ? (e.g. Orphanet or OMIM number): Deafness, autosomal dominant 80 (OMIM: 619274)
Your nano-attribution (ORCID): 0009-0007-4569-7461
Preferred term label: Cochlear nerve aplasia
Synonyms: Aplasia of the cochlear nerve, Absent cochlear nerve, Absence of cochlear nerve
Definition (free text, please give PubMed ID): A developmental defect causing an absence of the cochlear nerve resulting in sensorineural hearing loss (PMID: 37591623)
Parent term (use hpo.jax.org/app): Abnormality of the cochlear nerve [HP:0011396]
Diseases characterized by this term ? (e.g. Orphanet or OMIM number): Deafness, autosomal dominant 80 (OMIM: 619274)
Your nano-attribution (ORCID): 0009-0007-4569-7461