OBO ID: DOID:0111637 |
Term Name: | autosomal recessive nonsyndromic deafness 112 | Search Ontology: | |
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Definition: | An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2. https://www.ncbi.nlm.nih.gov/pubmed/24312468 | ||
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Ontology: | Human Disease ( DOID:0111637 ) |
OTHER autosomal recessive nonsyndromic deafness 112 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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