You are using an outdated browser. Please upgrade your browser to improve your experience.

autosomal recessive nonsyndromic deafness 88

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene.
Uniprot Description A form of non-syndromic deafness characterized by prelingual onset of severe to profound mixed conductive and sensorineural hearing loss.
Disease Ontology Description An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ELMOD3 gene on chromosome 2p11.
Mondo Term and Equivalent IDs
MONDO:0014182:  autosomal recessive nonsyndromic deafness 88
UMLS:C2829267: