OBO ID: DOID:0111620
Term Name: corneal dystrophy-perceptive deafness syndrome Search Ontology:
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 )
OTHER corneal dystrophy-perceptive deafness syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC4A11 Corneal endothelial dystrophy and perceptive deafness 217400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None