OBO ID: DOID:0111620 |
Term Name: | corneal dystrophy-perceptive deafness syndrome | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
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
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.