Term Name: | corneal dystrophy-perceptive deafness syndrome |
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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. |
Ontology: | Human Disease [DOID:0111620] ( DOID:0111620 ) |