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DO Term : X-linked deafness 7 [DOID:0111738] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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 the GPRASP2 gene on chromosome Xq22.1.
  • synonyms:
  • X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome,
  • DFNX7,
  • 301018,
  • ORDO:500188,
  • OMIM:301018
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