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About: autosomal dominant nonsyndromic deafness 76     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • autosomal dominant nonsyndromic deafness 76
described by
id
  • DOID:0112167
database_cross_reference
  • OMIM:618787
has_exact_synonym
  • DFNA76
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in PLS1 on chromosome 3q23.
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is annotatedSource of
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