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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:Cornea Plana 2
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Accession:DOID:9002263 term browser browse the term
Synonyms:exact_synonym: CNA2;   CORNEA PLANA 2, AUTOSOMAL RECESSIVE
 primary_id: MESH:C565677
 alt_id: MIM:217300



show annotations for term's descendants           Sort by:
Cornea Plana 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kera keratocan ISO ClinVar Annotator: match by term: Cornea plana 2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10802664 PMID:11726611 PMID:11754099 PMID:15370545 PMID:16157807 More... NCBI chr 7:32,397,382...32,404,837 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7376
      eye disease 3722
        Hereditary Eye Diseases 1130
          Cornea Plana 2 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        Neurologic Manifestations 10448
          sensory system disease 7376
            eye disease 3722
              corneal disease 239
                cornea plana 3
                  Cornea Plana 2 1
paths to the root