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loading...| Preferred Name |
Auditory neuropathy |
| Synonyms |
Progressive auditory neuropathy |
| ID |
http://purl.bioontology.org/ontology/MESH/C538268 |
| altLabel |
Progressive auditory neuropathy Auditory dys-synchrony Familial auditory neuropathy |
| cui |
C1852271 |
| HM |
D006313 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
212 |
| MMR |
20150817 |
| notation |
C538268 |
| prefLabel |
Auditory neuropathy |
| SC |
3 |
| Scope Statement |
A hearing disorder in which sound enters the INNER EAR normally but the transmission of signals from the inner ear to the brain is impaired. Germline mutations in the OTOF gene have been identified for Auditory Neuropathy, Autosomal Recessive, 1 (OMIM: 601071) |
| TERMUI |
T745263 T753726 T753725 T745262 |
| TH |
ORD (2010) |
| tui |
T047 |
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