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ONTOLOGY REPORT - ANNOTATIONS


Term:corneal dystrophy-perceptive deafness syndrome
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Accession:DOID:0111620 term browser browse the term
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 SLC4A11 on chromosome 20p13. (DO)
Synonyms:exact_synonym: CDPD;   CDPD1;   Corneal Dystrophy and Perceptive Deafness;   Harboyan syndrome;   congenital corneal dystrophy, progressive sensorineural deafness;   corneal dystrophy and sensorineural deafness;   corneal dystrophy with progressive deafness;   corneal endothelial dystrophy and perceptive deafness
 primary_id: MESH:C535473
 alt_id: OMIM:217400
 xref: GARD:1529;   ORDO:1490
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corneal dystrophy-perceptive deafness syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc4a11 solute carrier family 4 member 11 JBrowse link 3 123,224,242 123,236,535 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15610
    syndrome 5800
      corneal dystrophy-perceptive deafness syndrome 1
Path 2
Term Annotations click to browse term
  disease 15610
    disease of anatomical entity 14968
      nervous system disease 10400
        sensory system disease 4770
          Otorhinolaryngologic Diseases 1091
            auditory system disease 696
              Hearing Disorders 577
                Hearing Loss 573
                  sensorineural hearing loss 467
                    corneal dystrophy-perceptive deafness syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.