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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


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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16652336 PMID:19337156 PMID:25525159 PMID:28492532 NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    syndrome 11180
      Cogan syndrome 1
        epithelial basement membrane dystrophy 1
        ocular motor apraxia, Cogan type 0
Path 2
Term Annotations click to browse term
  disease 19050
    Pathological Conditions, Signs and Symptoms 13532
      Signs and Symptoms 11084
        Neurologic Manifestations 10336
          sensory system disease 7255
            Otorhinolaryngologic Diseases 1790
              auditory system disease 1052
                retrocochlear disease 79
                  vestibulocochlear nerve disease 39
                    Cogan syndrome 1
                      epithelial basement membrane dystrophy 1
                      ocular motor apraxia, Cogan type 0
paths to the root