Search Ontology:
Human Disease

X-linked deafness 1

Term ID
DOID:0111739
Synonyms
  • DFN2
  • DFNX1
  • X-linked sensorineural congenital deafness 2
Definition
An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3. (2)
References
Ontology
Human Disease   ( DOID:0111739 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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