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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;   Corneal dystrophy, Cogan type;   EBMD;   Map-dot-fingerprint dystrophy of cornea;   anterior basement membrane corneal dystrophy;   microcystic corneal dystrophy;   microcystic dystrophy of the cornea
 primary_id: MESH:C535477
 alt_id: OMIM:121820
 xref: ORDO:98956
For additional species annotation, visit the Alliance of Genome Resources.


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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 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      Cogan syndrome 2
        epithelial basement membrane dystrophy 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        sensory system disease 5232
          Otorhinolaryngologic Diseases 1202
            auditory system disease 767
              retrocochlear disease 27
                vestibulocochlear nerve disease 20
                  Cogan syndrome 2
                    epithelial basement membrane dystrophy 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.