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DO Term : autosomal recessive nonsyndromic deafness 100 [DOID:0111638] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1.
  • synonyms:
  • OMIM:618422,
  • 618422,
  • DFNB100,
  • autosomal recessive deafness 100
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents