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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 chr12:21,600,163...21,607,268
Ensembl chr12:21,599,563...21,607,040
JBrowse link
Meesmann corneal dystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT12 keratin 12 ISO OMIM NCBI chr12:21,600,163...21,607,268
Ensembl chr12:21,599,563...21,607,040
JBrowse link
Meesmann corneal dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT3 keratin 3 ISO OMIM NCBI chr 5:18,075,881...18,082,119
Ensembl chr 5:18,075,860...18,082,196
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12641
    sensory system disease 4799
      eye disease 2511
        corneal disease 182
          corneal dystrophy 45
            epithelial and subepithelial dystrophy 6
              Meesmann corneal dystrophy 2
                Meesmann corneal dystrophy 1 1
                Meesmann corneal dystrophy 2 1
Path 2
Term Annotations click to browse term
  disease 12641
    disease of anatomical entity 12177
      nervous system disease 9943
        sensory system disease 4799
          eye disease 2511
            Hereditary Eye Diseases 559
              corneal dystrophy 45
                epithelial and subepithelial dystrophy 6
                  Meesmann corneal dystrophy 2
                    Meesmann corneal dystrophy 1 1
                    Meesmann corneal dystrophy 2 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.