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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


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Cornea Plana 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kera keratocan ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cornea plana 2		 OMIM
CTD
ClinVar		 PMID:10802664 PMID:11726611 PMID:11754099 PMID:15370545 PMID:16157807 More... NCBI chr 7:34,284,100...34,291,555
Ensembl 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 7383
      eye disease 3731
        Hereditary Eye Diseases 1130
          Cornea Plana 2 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        Neurologic Manifestations 10463
          sensory system disease 7383
            eye disease 3731
              corneal disease 239
                cornea plana 3
                  Cornea Plana 2 1
paths to the root