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autosomal recessive nonsyndromic deafness 70

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 PNPT1 gene.
Uniprot Description A form of non-syndromic deafness characterized by severe, bilateral hearing impairment with prelingual onset, resulting in inability to acquire normal speech.
Disease Ontology Description An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16.
Mondo Term and Equivalent IDs
MONDO:0013978:  autosomal recessive nonsyndromic deafness 70
UMLS:C1824925: