DISEASES

Disease-gene associations mined from literature

Human genes for Netherton syndrome

Netherton syndrome [DOID:0050474]

An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.

Synonyms:  Netherton syndrome,  DOID:0050474,  Netherton disease,  Netherton disorder

Linkouts:  OMIM