FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term corneal dystrophy-perceptive deafness syndrome ID (Ontology) DOID:0111620 (Human Disease)
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.
Also Known As "CDPD" ; "CDPD1" ; "corneal dystrophy and perceptive deafness" (for all, see Synonyms field below)
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 Genes
 corneal dystrophy-perceptive deafness syndrome       2
 for disease ribbon | corneal dystrophy-perceptive deafness syndrome       2
 model of | corneal dystrophy-perceptive deafness syndrome       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 corneal dystrophy-perceptive deafness syndrome  2 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "CDPD" EXACT OMO:0003012
    "CDPD1" EXACT OMO:0003012
    "corneal dystrophy and perceptive deafness" EXACT
    "corneal dystrophy with progressive deafness" EXACT
    "corneal endothelial dystrophy and perceptive deafness" EXACT
    "Harboyan syndrome" EXACT
Secondary IDs
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GARD:1529
MESH:C535473
MIM:217400
ORDO:1490
SNOMEDCT_US_2023_03_01:720749004
UMLS_CUI:C1857572