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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:An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. (DO)
Synonyms:exact_synonym: Cogan's Syndrome;   Cogans Syndrome
 related_synonym: diffuse interstitual keratitis
 primary_id: MESH:D055952
 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 term: Epithelial basement membrane dystrophy OMIM
ClinVar
PMID:16652336 PMID:19337156 PMID:25525159 NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    syndrome 9746
      Cogan syndrome 1
        epithelial basement membrane dystrophy 1
        ocular motor apraxia, Cogan type 0
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13208
        sensory system disease 6435
          Otorhinolaryngologic Diseases 1667
            auditory system disease 1070
              retrocochlear disease 53
                vestibulocochlear nerve disease 39
                  Cogan syndrome 1
                    epithelial basement membrane dystrophy 1
                    ocular motor apraxia, Cogan type 0
paths to the root