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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 1
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Accession:DOID:0080670 term browser browse the term
Definition:A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: MECD1
 primary_id: OMIM:122100
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr10:87,328,547...87,336,710
Ensembl chr10:87,328,549...87,335,823
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                Meesmann corneal dystrophy 1 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            corneal disease 185
              corneal dystrophy 44
                epithelial and subepithelial dystrophy 5
                  Meesmann corneal dystrophy 1
                    Meesmann corneal dystrophy 1 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.