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ONTOLOGY REPORT - ANNOTATIONS


Term:Meesmann corneal dystrophy
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Accession:DOID:0060451 term browser browse the term
Definition:An autosomal dominant form of hereditary corneal dystrophy due to a defect in cornea-specific KERATIN formation. Mutations in the genes that encode KERATIN-3 and KERATIN-12 have been linked to this disorder.
Synonyms:exact_synonym: Corneal Dystrophy, Juvenile Epithelial of Meesmann;   Juvenile Hereditary Epithelial Dystrophy;   MECD;   MECD1;   MEESMAN'S CORNEAL DYSTROPHY;   Meesmann Corneal Dystrophies;   Meesmann Corneal Epithelial Dystrophy;   Meesmann corneal dystrophy 1;   Stocker-Holt dystrophy
 primary_id: MESH:D053559
 alt_id: OMIM:122100
 xref: GARD:9688;   ICD10CM:H18.52;   ICD9CM:371.51;   NCI:C84795;   ORDO:98954
For additional species annotation, visit the Alliance of Genome Resources.


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Meesmann corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt12 keratin 12 JBrowse link 10 87,328,547 87,336,710 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    sensory system disease 4663
      eye and adnexa disease 2225
        eye disease 2225
          corneal disease 174
            corneal dystrophy 41
              epithelial and subepithelial dystrophy 4
                Meesmann corneal dystrophy 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        sensory system disease 4663
          eye and adnexa disease 2225
            eye disease 2225
              Hereditary Eye Diseases 524
                corneal dystrophy 41
                  epithelial and subepithelial dystrophy 4
                    Meesmann corneal dystrophy 1
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