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Human Disease
autosomal recessive nonsyndromic deafness 53
- Term ID
- DOID:0110509
- Synonyms
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- autosomal recessive deafness 53
- DFNB53
- Definition
- An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/16033917
- References
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- ICD10CM:H90.3
- MIM:609706
- Ontology
- Human Disease ( DOID:0110509 )
- is a type of
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Zebrafish Models