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corneal dystrophy-perceptive deafness syndrome
Summary
- Synonym
-
- CDPD
- CDPD1
- Harboyan syndrome
- corneal dystrophy and perceptive deafness
- corneal dystrophy with progressive deafness
- corneal endothelial dystrophy and perceptive deafness
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111620
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
