autosomal recessive nonsyndromic deafness 70

Term ID

DOID:0110521

Synonyms

autosomal recessive deafness 70
DFNB70

Definition

An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16. https://www.ncbi.nlm.nih.gov/pubmed/23084290

References

ICD10CM:H90.3
MIM:614934

Ontology

Human Disease ( DOID:0110521 )

Relationships

is a type of: autosomal recessive nonsyndromic deafness

autosomal recessive nonsyndromic deafness Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models