Search Ontology:
Human Disease
autosomal recessive nonsyndromic deafness 124
- Term ID
- DOID:0070676
- Synonyms
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- DFNB124
- Definition
- An autosomal recessive nonsyndromic deafness characterized by congenital progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PKHD1L1 gene on chromosome 8q23. https://pmc.ncbi.nlm.nih.gov/articles/PMC11043200/
- References
- Ontology
- Human Disease ( DOID:0070676 )
Other Pages
Genes Involved
Zebrafish Models