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autosomal recessive nonsyndromic deafness 102

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 EPS8 gene.
Uniprot Description A form of non-syndromic deafness characterized by profound hearing loss affecting all frequencies. Vestibular function is unaffected.
Disease Ontology Description An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12.
Mondo Term and Equivalent IDs
MONDO:0014428:  autosomal recessive nonsyndromic deafness 102
UMLS:C3892050: