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DO Term : corneal dystrophy-perceptive deafness syndrome [DOID:0111620] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13.
  • synonyms:
  • corneal dystrophy and perceptive deafness,
  • ORDO:1490,
  • MESH:C535473,
  • CDPD,
  • corneal dystrophy with progressive deafness,
  • 217400,
  • CDPD1,
  • corneal endothelial dystrophy and perceptive deafness,
  • OMIM:217400,
  • SNOMEDCT_US_2023_03_01:720749004,
  • Harboyan syndrome,
  • GARD:1529,
  • UMLS_CUI:C1857572
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