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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
autosomal recessive nonsyndromic deafness 112
Summary
- Synonym
-
- DFNB112
- autosomal recessive deafness 112
- Definition
- An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2.
- Super Class
- autosomal recessive nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0111637
- Mondo Disease Ontology
- OMIM
