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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
For additional species annotation, visit the Alliance of Genome Resources.


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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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:4900143, PMID:16303937, PMID:23049806, PMID:26749309 NCBI chr 3:138,433,990...138,464,511
Ensembl chr 3:138,433,990...138,462,063
JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 ClinVar PMID:25182519, PMID:28492532 NCBI chr 3:123,224,242...123,236,535
Ensembl chr 3:123,224,242...123,236,535
JBrowse link
G Vsx1 visual system homeobox 1 ISO DNA:missense mutation:cds:p.H244R (human)
ClinVar Annotator: match by term: MAUMENEE CORNEAL DYSTROPHY
ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1
ClinVar PMID:7795607, PMID:11978762, PMID:15623752, PMID:16303937, PMID:16384943, PMID:18216574, PMID:18626569, PMID:19763142, PMID:21976959, PMID:22171159, PMID:23592923, PMID:24033266, PMID:25741868, PMID:26879370, PMID:28492532, PMID:16384943 RGD:8657036 NCBI chr 3:146,484,235...146,494,757
Ensembl chr 3:146,484,238...146,491,837
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      eye disease 2664
        corneal disease 189
          corneal dystrophy 44
            posterior polymorphous corneal dystrophy 6
              posterior polymorphous corneal dystrophy 1 3
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          eye disease 2664
            corneal disease 189
              corneal dystrophy 44
                posterior polymorphous corneal dystrophy 6
                  posterior polymorphous corneal dystrophy 1 3
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.