| Metadata | |
|---|---|
| ID | DOID:0111620 |
| Name | corneal dystrophy-perceptive deafness 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. https://www.ncbi.nlm.nih.gov/pubmed/17220209, https://www.ncbi.nlm.nih.gov/pubmed/5312820 |
| Xrefs |
SNOMEDCT_US_2023_03_01:720749004 |
| Subsets |
DO_rare_slim |
| Synonyms |
CDPD [EXACT] CDPD1 [EXACT] corneal dystrophy and perceptive deafness [EXACT] corneal dystrophy with progressive deafness [EXACT] corneal endothelial dystrophy and perceptive deafness [EXACT] Harboyan syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |