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Human Disease

autosomal recessive nonsyndromic deafness 109

Term ID
DOID:0111639
Synonyms
  • autosomal recessive deafness 109
  • DFNB109
Definition
An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. https://www.ncbi.nlm.nih.gov/pubmed/29107558
References
Ontology
Human Disease   ( DOID:0111639 )
Relationships
is a type of
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Genes Involved
Zebrafish Models