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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
  • X-linked deafness 7
described by
id
  • DOID:0111738
database_cross_reference
  • OMIM:301018
  • ORDO:500188
has_exact_synonym
  • DFNX7
  • X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in GPRASP2 on chromosome Xq22.1.
is topic of
is annotatedSource of
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