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autosomal recessive nonsyndromic deafness 84A

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 PTPRQ gene.
Uniprot Description A form of non-syndromic deafness characterized by progressive, sensorineural hearing loss and vestibular dysfunction.
Disease Ontology Description An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21.
Mondo Term and Equivalent IDs
MONDO:0013249:  autosomal recessive nonsyndromic deafness 84A
UMLS:C3150654: