Search Ontology:
Human Disease

X-linked deafness 6

Term ID
DOID:0111740
Synonyms
  • DFNX6
Definition
An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in the COL4A6 gene on chromosome Xq22.3. https://www.ncbi.nlm.nih.gov/pubmed/23714752
References
Ontology
Human Disease   ( DOID:0111740 )
Relationships
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Genes Involved
Zebrafish Models