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Human Disease
autosomal recessive nonsyndromic deafness 30
- Term ID
- DOID:0110489
- Synonyms
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- autosomal recessive deafness 30
- DFNB30
- Definition
- An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1. https://www.ncbi.nlm.nih.gov/pubmed/12032315
- References
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- ICD10CM:H90.3
- MIM:607101
- ORDO:90636
- Ontology
- Human Disease ( DOID:0110489 )
- is a type of
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Genes Involved
Zebrafish Models