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

AttributesValues
type
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  • autosomal dominant nonsyndromic deafness 78
described by
id
  • DOID:0112159
database_cross_reference
  • OMIM:619081
has_exact_synonym
  • DFNA78
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of SLC12A2 on chromosome 5q23.3.
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is annotatedSource of
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