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Deafness, Autosomal Recessive 1A

^ http://purl.obolibrary.org/obo/NCIT_C129022


An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction. [ NCI ]

Synonyms: Deafness, Autosomal Recessive 1A, DFNB1A

Term info

Preferred Name

Deafness, Autosomal Recessive 1A

Semantic Type

Disease or Syndrome

UMLS CUI

C2673759

code

C129022