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DO Term : autosomal recessive nonsyndromic deafness 124 [DOID:0070676] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive nonsyndromic deafness characterized by congenital progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PKHD1L1 gene on chromosome 8q23.
  • synonyms:
  • OMIM:620794,
  • autosomal recessive deafness 124,
  • 620794,
  • DFNB124
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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