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About: X-linked deafness 6     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
  • X-linked deafness 6
described by
id
  • DOID:0111740
database_cross_reference
  • OMIM:300914
has_exact_synonym
  • DFNX6
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in COL4A6 on chromosome Xq22.3.
is topic of
is annotatedSource of
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