Search Ontology:
Human Disease
corneal dystrophy-perceptive deafness syndrome
- Term ID
- DOID:0111620
- 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
-
- GARD:1529
- MESH:C535473
- MIM:217400
- ORDO:1490
- SNOMEDCT_US_2023_03_01:720749004
- UMLS_CUI:C1857572
- Ontology
- Human Disease ( DOID:0111620 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models