X-Linked Deafness 2
Disease ID: disease_node_14959
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| Dbxref | MIM:304400, ORDO:383 |
|---|---|
| Subclassof | DOID_0050566 |
| Data Source | DOID |
| Synonyms | DFN3, DFNX2, Nance deafness, X-linked deafness type 2, X-linked mixed conductive and neurosensory deafness, X-linked mixed conductive and neurosensory hearing loss, X-linked mixed conductive and sensorineural deafness, X-linked mixed conductive and sensorineural hearing loss, X-linked sensorineural deafness, X-linked stapes gusher syndrome, conductive deafness 3 with stapes fixation, conductive deafness with stapes fixation, mixed deafness with perilymphatic gusher |
| Doid Label | X-linked deafness 2 |
| Doid Description | An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1. |
| Disease Node Id | disease_node_14959 |
| Doid Id | DOID_0111737 |
| Label | X-Linked Deafness 2 |
| Doid Alternate Ids | DOID_0080783 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Nonsyndromic Deafness(ID:disease_node_14955) (Disease)