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DO Term : autosomal recessive nonsyndromic deafness 99 [DOID:0111634] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12.
  • synonyms:
  • 618481,
  • autosomal recessive deafness 99,
  • DFNB99,
  • OMIM:618481
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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