Autosomal recessive nonsyndromic hearing loss 48

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene.

Also known as autosomal recessive nonsyndromic hearing loss 48, USH1J, Usher syndrome type 1J — per MONDO

Also identified as

• DOID 0110505 per MONDO
• DOID 0110836 per MONDO
• MESH C563720 per MONDO
• OMIM 609439 per MONDO
• OMIM 614869 per MONDO
• UMLS C1836199 per MONDO