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Human Disease

autosomal recessive nonsyndromic deafness 53

Term ID
DOID:0110509
Synonyms
  • 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
Ontology
Human Disease   ( DOID:0110509 )
Relationships
is a type of
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Genes Involved
Zebrafish Models