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Metadata
ID DOID:0111642
Name autosomal recessive nonsyndromic deafness 114
Definition An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2.
https://www.ncbi.nlm.nih.gov/pubmed/30610177
Xrefs

OMIM:618456

Synonyms

autosomal recessive deafness 114 [EXACT]

DFNB114 [EXACT]

Parent Relationships

is_a autosomal recessive nonsyndromic deafness

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