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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.



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corneal dystrophy-perceptive deafness syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by OMIM:217400
ClinVar Annotator: match by term: Corneal dystrophy and perceptive deafness
ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome
OMIM
ClinVar
PMID:16767101 PMID:16825429 PMID:17220209 PMID:17679935 PMID:18024964 More... NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      corneal dystrophy-perceptive deafness syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          Otorhinolaryngologic Diseases 1349
            auditory system disease 913
              Hearing Disorders 741
                Hearing Loss 737
                  sensorineural hearing loss 609
                    corneal dystrophy-perceptive deafness syndrome 1
paths to the root