Search Ontology:
Human Disease
autosomal recessive nonsyndromic deafness 117
- Term ID
- DOID:0070671
- Synonyms
-
- DFNB117
- Definition
- An autosomal recessive nonsyndromic deafness characterized by bilateral moderate-to-profound sensorineural deafness with onset in early childhood that has_material_basis_in homozygous mutation in the CLRN2 gene on chromosome 4p15. https://pmc.ncbi.nlm.nih.gov/articles/PMC8099798/
- References
- Ontology
- Human Disease ( DOID:0070671 )
Other Pages
Genes Involved
Zebrafish Models