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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 2
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Accession:DOID:0110856 term browser browse the term
Definition:A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3. (DO)
Synonyms:exact_synonym: PPCD2
 primary_id: MESH:C565176
 alt_id: OMIM:609140;   RDO:0013897
For additional species annotation, visit the Alliance of Genome Resources.


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posterior polymorphous corneal dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col8a2 collagen type VIII alpha 2 chain ISO ClinVar Annotator: match by OMIM:609140 OMIM
ClinVar
PMID:399801 PMID:11689488 PMID:15914606 PMID:18024822 PMID:22002996 PMID:23422828 NCBI chr 5:144,308,527...144,335,142
Ensembl chr 5:144,308,611...144,335,172
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        corneal disease 198
          corneal dystrophy 45
            posterior polymorphous corneal dystrophy 6
              posterior polymorphous corneal dystrophy 2 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            corneal disease 198
              corneal dystrophy 45
                posterior polymorphous corneal dystrophy 6
                  posterior polymorphous corneal dystrophy 2 1
paths to the root