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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:epithelial basement membrane dystrophy
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Accession:DOID:0060447 term browser browse the term
Definition:An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. (DO)
Synonyms:exact_synonym: Cogan corneal dystrophy;   Corneal Dystrophy, Map-Dot-Fingerprint Type;   EBMD;   anterior basement membrane corneal dystrophy;   corneal dystrophy, Cogan type;   map-dot-fingerprint dystrophy of cornea;   microcystic corneal dystrophy;   microcystic dystrophy of the cornea
 primary_id: MESH:C535477
 alt_id: OMIM:121820
 xref: ORDO:98956


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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 18969
    syndrome 10888
      Cogan syndrome 1
        epithelial basement membrane dystrophy 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            Otorhinolaryngologic Diseases 1740
              auditory system disease 994
                retrocochlear disease 79
                  vestibulocochlear nerve disease 39
                    Cogan syndrome 1
                      epithelial basement membrane dystrophy 1
paths to the root