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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 chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
ocular motor apraxia, Cogan type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap52 cilia and flagella associated protein 52 ISO ClinVar Annotator: match by term: Ocular motor apraxia ClinVar PMID:25741868 NCBI chr10:52,613,761...52,654,922
Ensembl chr10:52,613,762...52,654,934
JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Ocular motor apraxia ClinVar PMID:25741868 NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Ocular motor apraxia ClinVar PMID:25741868 NCBI chr 3:117,324,268...117,355,674
Ensembl chr 3:117,321,489...117,354,734
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Cogan syndrome 4
        epithelial basement membrane dystrophy 1
        ocular motor apraxia, Cogan type 3
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
              retrocochlear disease 54
                vestibulocochlear nerve disease 41
                  Cogan syndrome 4
                    epithelial basement membrane dystrophy 1
                    ocular motor apraxia, Cogan type 3
paths to the root