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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:Cogan syndrome
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Accession:DOID:0060216 term browser browse the term
Definition:A condition consisting of inflammatory eye disease usually presenting as interstitial KERATITIS, vestibuloauditory dysfunction, and large- to medium-vessel vasculitis.
Synonyms:exact_synonym: Cogan's Syndrome;   Cogans Syndrome
 related_synonym: diffuse interstitual keratitis
 primary_id: MESH:D055952
 alt_id: RDO:0000612
 xref: GARD:1421;   ICD10CM:H16.32;   ORDO:1467
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
epithelial basement membrane dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by OMIM:121820
ClinVar Annotator: match by term: Map-dot-fingerprint dystrophy of cornea
OMIM
ClinVar
PMID:16652336 PMID:19337156 PMID:25525159 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
JBrowse link
Oculomotor Apraxia, Cogan Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Ocular motor apraxia ClinVar PMID:25741868 NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Ocular motor apraxia ClinVar PMID:25741868 PMID:30311386 NCBI chr 3:122,644,183...122,680,054
Ensembl chr 3:122,662,086...122,679,128
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Cogan syndrome 3
        Oculomotor Apraxia, Cogan Type 2
        epithelial basement membrane dystrophy 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          Otorhinolaryngologic Diseases 1202
            auditory system disease 767
              retrocochlear disease 28
                vestibulocochlear nerve disease 21
                  Cogan syndrome 3
                    Oculomotor Apraxia, Cogan Type 2
                    epithelial basement membrane dystrophy 1
paths to the root