OBO ID: DOID:0111635 |
Term Name: | autosomal recessive nonsyndromic deafness 57 | Search Ontology: | |
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Definition: | An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31. https://www.ncbi.nlm.nih.gov/pubmed/29048736 | ||
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Ontology: | Human Disease ( DOID:0111635 ) |
OTHER autosomal recessive nonsyndromic deafness 57 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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