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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 5
described by
id
  • DOID:0110575
database_cross_reference
  • ICD10CM:H90.3
  • OMIM:600994
has_exact_synonym
  • DFNA5 (en)
  • autosomal dominant deafness 5 (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15.
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is annotatedSource of
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