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Metadata
ID DOID:0111736
PURL http://purl.obolibrary.org/obo/DOID_0111736 Copy
Name X-linked deafness 3
Definition An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2.
https://www.ncbi.nlm.nih.gov/pubmed/18005182, https://www.ncbi.nlm.nih.gov/pubmed/7942846
Xrefs

MIM:300030

Synonyms

congenital sensorineural X-linked deafness 4 [EXACT]

DFN4 [EXACT]

DFNX3 [EXACT]

Parent Relationships

is_a X-linked nonsyndromic deafness

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