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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:posterior polymorphous corneal dystrophy 1
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Accession:DOID:0110855 term browser browse the term
Definition:A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. (DO)
Synonyms:exact_synonym: CHED1;   Maumenee corneal dystrophy;   PPCD1;   corneal endothelial dystrophy 1;   corneal endothelial dystrophy 1, autosomal dominant;   hereditary polymorphous posterior corneal dystrophy
 primary_id: MESH:C562745
 alt_id: MESH:C565156;   OMIM:122000
 xref: ICD10CM:H18.50

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posterior polymorphous corneal dystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ovol2 ovo like zinc finger 2 ISO ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 OMIM
ClinVar		 PMID:4900143 PMID:16303937 PMID:23049806 PMID:25741868 PMID:26749309 More... NCBI chrNW_004936485:2,096,495...2,128,002
Ensembl chrNW_004936485:2,096,495...2,128,540 		JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Corneal endothelial dystrophy 1, autosomal dominant | ClinVar Annotator: match by term: Maumenee corneal dystrophy ClinVar PMID:17220209 PMID:17679935 PMID:19369245 PMID:25182519 PMID:25500497 More... NCBI chrNW_004936485:15,486,565...15,497,638
Ensembl chrNW_004936485:15,486,372...15,497,673 		JBrowse link
G Vsx1 visual system homeobox 1 ISO ClinVar Annotator: match by term: CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR | ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 ClinVar PMID:7795607 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 More... NCBI chrNW_004936620:710,917...718,205
Ensembl chrNW_004936620:710,671...718,595 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by term: CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR | ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 ClinVar PMID:25741868 NCBI chrNW_004936574:17,643...175,762
Ensembl chrNW_004936574:17,684...178,293 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14499
    sensory system disease 6299
      eye disease 3227
        corneal disease 211
          corneal dystrophy 50
            posterior polymorphous corneal dystrophy 6
              posterior polymorphous corneal dystrophy 1 4
Path 2
Term Annotations click to browse term
  disease 14499
    Pathological Conditions, Signs and Symptoms 11295
      Signs and Symptoms 9364
        Neurologic Manifestations 9055
          sensory system disease 6299
            eye disease 3227
              corneal disease 211
                corneal dystrophy 50
                  posterior polymorphous corneal dystrophy 6
                    posterior polymorphous corneal dystrophy 1 4
paths to the root