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DOID:0111620 - corneal dystrophy-perceptive deafness syndrome
Disease Ontology 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.
Synonyms: CDPD, CDPD1, Harboyan syndrome, corneal dystrophy and perceptive deafness, corneal dystrophy with progressive deafness, corneal endothelial dystrophy and perceptive deafness,
Xenbase Genes
:
slc4a11
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)