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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:Meesmann corneal dystrophy
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Accession:DOID:0060451 term browser browse the term
Definition:An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium. (DO)
Synonyms:exact_synonym: Juvenile Hereditary Epithelial Dystrophy;   MECD;   Meesman's corneal dystrophy;   Meesmann corneal dystrophies;   Meesmann corneal epithelial dystrophy;   Stocker-Holt dystrophy;   juvenile epithelial corneal dystrophy of Meesmann
 primary_id: MESH:D053559
 xref: GARD:9688;   ICD10CM:H18.52;   ICD9CM:371.51;   NCI:C84795;   OMIM:PS122100;   ORDO:98954
For additional species annotation, visit the Alliance of Genome Resources.


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Meesmann corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt12 keratin 12 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:99,415,664...99,422,593
Ensembl chr11:99,415,666...99,422,259
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Meesmann corneal dystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt12 keratin 12 ISO ClinVar Annotator: match by term: Meesmann corneal dystrophy 1 ClinVar
OMIM
PMID:9171831, PMID:9399908, PMID:10644419, PMID:22174841 NCBI chr11:99,415,664...99,422,593
Ensembl chr11:99,415,666...99,422,259
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13427
    sensory system disease 5054
      eye disease 2650
        corneal disease 194
          corneal dystrophy 49
            epithelial and subepithelial dystrophy 5
              Meesmann corneal dystrophy 1
                Meesmann corneal dystrophy 1 1
                Meesmann corneal dystrophy 2 0
Path 2
Term Annotations click to browse term
  disease 13427
    disease of anatomical entity 12903
      nervous system disease 10459
        sensory system disease 5054
          eye disease 2650
            Hereditary Eye Diseases 600
              corneal dystrophy 49
                epithelial and subepithelial dystrophy 5
                  Meesmann corneal dystrophy 1
                    Meesmann corneal dystrophy 1 1
                    Meesmann corneal dystrophy 2 0
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.