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Meesmann corneal dystrophy 2 - Ontology Report - Rat Genome Database

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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 2
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Accession:DOID:0080671 term browser browse the term
Definition:A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13. (DO)
Synonyms:exact_synonym: MECD2
 broad_synonym: KRT3-related condition
 xref: MIM:618767;   MONDO:0032904

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Meesmann corneal dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Krt3 keratin 3 ISO ClinVar Annotator: match by term: Corneal dystrophy, Meesmann, 2 | ClinVar Annotator: match by term: KRT3-related condition OMIM
ClinVar		 PMID:9171831 PMID:16227835 PMID:18806880 PMID:25741868 PMID:28492532 NCBI chrNW_004624904:887,295...892,596
Ensembl chrNW_004624904:887,295...892,638 		JBrowse link
G G KRT3 keratin 3 ISO ClinVar Annotator: match by term: Corneal dystrophy, Meesmann, 2 | ClinVar Annotator: match by term: KRT3-related condition OMIM
ClinVar		 PMID:9171831 PMID:16227835 PMID:18806880 PMID:25741868 PMID:28492532 NCBI chr11:48,920,531...48,930,166
Ensembl chr11:48,921,725...48,927,801 		JBrowse link
G P KRT3 keratin 3 ISO ClinVar Annotator: match by term: Corneal dystrophy, Meesmann, 2 | ClinVar Annotator: match by term: KRT3-related condition OMIM
ClinVar		 PMID:9171831 PMID:16227835 PMID:18806880 PMID:25741868 PMID:28492532 NCBI chr 5:18,075,881...18,082,119
Ensembl chr 5:18,075,864...18,082,196 		JBrowse link
G S Krt3 keratin 3 ISO ClinVar Annotator: match by term: Corneal dystrophy, Meesmann, 2 | ClinVar Annotator: match by term: KRT3-related condition OMIM
ClinVar		 PMID:9171831 PMID:16227835 PMID:18806880 PMID:25741868 PMID:28492532 NCBI chrNW_004936512:10,158,984...10,165,131
Ensembl chrNW_004936512:10,158,506...10,165,271 		JBrowse link
G D KRT3 keratin 3 ISO ClinVar Annotator: match by term: Corneal dystrophy, Meesmann, 2 | ClinVar Annotator: match by term: KRT3-related condition OMIM
ClinVar		 PMID:9171831 PMID:16227835 PMID:18806880 PMID:25741868 PMID:28492532 NCBI chr27:2,319,976...2,325,986 JBrowse link
G B KRT3 keratin 3 ISO ClinVar Annotator: match by term: Corneal dystrophy, Meesmann, 2 | ClinVar Annotator: match by term: KRT3-related condition OMIM
ClinVar		 PMID:9171831 PMID:16227835 PMID:18806880 PMID:25741868 PMID:28492532 NCBI chr12:35,964,291...35,970,709
Ensembl chr12:36,742,373...36,748,364 		JBrowse link
G C Krt3 keratin 3 ISO ClinVar Annotator: match by term: Corneal dystrophy, Meesmann, 2 | ClinVar Annotator: match by term: KRT3-related condition OMIM
ClinVar		 PMID:9171831 PMID:16227835 PMID:18806880 PMID:25741868 PMID:28492532 NCBI chrNW_004955458:92,436...98,334
Ensembl chrNW_004955458:92,436...98,466 		JBrowse link
G H KRT3 keratin 3 IAGP ClinVar Annotator: match by term: KRT3-related condition
ClinVar Annotator: match by term: Corneal dystrophy, Meesmann, 2		 OMIM
ClinVar		 PMID:9171831 PMID:16227835 PMID:18806880 PMID:25741868 PMID:28492532 NCBI chr12:52,789,685...52,796,117
Ensembl chr12:52,789,685...52,796,117 		JBrowse link
G H LOC126861527 BRD4-independent group 4 enhancer GRCh37_chr12:53184490-53185689 IAGP ClinVar Annotator: match by term: Corneal dystrophy, Meesmann, 2
ClinVar Annotator: match by term: KRT3-related condition		 ClinVar PMID:9171831 PMID:16227835 PMID:18806880 PMID:25741868 PMID:28492532 NCBI chr12:52,790,706...52,791,905 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      eye disease 42489
        corneal disease 2564
          corneal dystrophy 584
            epithelial and subepithelial dystrophy 67
              Meesmann corneal dystrophy 17
                Meesmann corneal dystrophy 2 9
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            eye disease 42489
              corneal disease 2564
                corneal dystrophy 584
                  epithelial and subepithelial dystrophy 67
                    Meesmann corneal dystrophy 17
                      Meesmann corneal dystrophy 2 9
paths to the root