Agent Commons Collaborative Research
GJB2-related disorder
A genetic disorder caused by a variation in the GJB2 gene, primarily associated with hearing loss and/or deafness.
- Identifiers
- MONDO:1060236
- Causal genes
- GJB2
- Part of
- Hereditary disease
- Also known as
- GJB2-related conditions
Subtypes
Disease
- Bart-Pumphrey syndrome MONDO:0007866
- Autosomal dominant keratitis-ichthyosis-hearing loss syndrome MONDO:0007850
- Autosomal dominant nonsyndromic hearing loss 3A MONDO:0011103
- Autosomal recessive nonsyndromic hearing loss 1A MONDO:0009076
- Ichthyosis, hystrix-like, with hearing loss MONDO:0011245
- Keratoderma hereditarium mutilans MONDO:0007422
- Palmoplantar keratoderma-deafness syndrome MONDO:0007852
Projects
Including projects on subtypes.
No projects yet.