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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


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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 IAGP
EXP		 ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 2
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:399801 PMID:11689488 PMID:15914606 PMID:18024822 PMID:22002996 More... NCBI chr 1:36,095,239...36,125,222
Ensembl chr 1:36,095,239...36,125,222 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9738
      eye disease 4946
        corneal disease 329
          corneal dystrophy 81
            posterior polymorphous corneal dystrophy 8
              posterior polymorphous corneal dystrophy 2 1
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21470
      Signs and Symptoms 16324
        Neurologic Manifestations 15391
          sensory system disease 9738
            eye disease 4946
              corneal disease 329
                corneal dystrophy 81
                  posterior polymorphous corneal dystrophy 8
                    posterior polymorphous corneal dystrophy 2 1
paths to the root