| Metadata | |
|---|---|
| ID | DOID:0111737 |
| Name | X-linked deafness 2 |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/20412083, https://www.ncbi.nlm.nih.gov/pubmed/7839145 |
| Xrefs | |
| Alternateids |
DOID:0080783 |
| Subsets |
DO_rare_slim |
| Synonyms |
conductive deafness 3 with stapes fixation [EXACT] conductive deafness with stapes fixation [EXACT] DFN3 [EXACT] DFNX2 [EXACT] mixed deafness with perilymphatic gusher [EXACT] Nance deafness [EXACT] X-linked deafness type 2 [EXACT] X-linked mixed conductive and neurosensory deafness [EXACT] X-linked mixed conductive and neurosensory hearing loss [EXACT] X-linked mixed conductive and sensorineural deafness [EXACT] X-linked mixed conductive and sensorineural hearing loss [EXACT] X-linked sensorineural deafness [EXACT] X-linked stapes gusher syndrome [EXACT] |
| Parent Relationships |