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Disease Ontology Browser
X-linked deafness 1 (DOID:0111739)
Alliance: disease page
Synonyms: DFN2; DFNX1; X-linked sensorineural congenital deafness 2
Alt IDs: OMIM:304500
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/05/2024
MGI 6.24 		The Jackson Laboratory