Search Ontology:
Human Disease

corneal dystrophy-perceptive deafness syndrome

Term ID
DOID:0111620
Synonyms
  • CDPD
  • CDPD1
  • corneal dystrophy and perceptive deafness
  • corneal dystrophy with progressive deafness
  • corneal endothelial dystrophy and perceptive deafness
  • Harboyan syndrome
Definition
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. (2)
References
Ontology
Human Disease   ( DOID:0111620 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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