Search Ontology:
Human Disease

autosomal recessive nonsyndromic deafness 114

Term ID
DOID:0111642
Synonyms
  • autosomal recessive deafness 114
  • DFNB114
Definition
An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2. https://www.ncbi.nlm.nih.gov/pubmed/30610177
References
Ontology
Human Disease   ( DOID:0111642 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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