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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:X-linked endothelial corneal dystrophy
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Accession:DOID:0060446 term browser browse the term
Definition:A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. (DO)
Synonyms:exact_synonym: XECD
 primary_id: MESH:C567587
 alt_id: OMIM:300779
 xref: ICD10CM:H18.5;   ORDO:293621


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6281
      eye disease 3213
        corneal disease 210
          corneal dystrophy 50
            corneal endothelial dystrophy 10
              X-linked endothelial corneal dystrophy 0
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        Neurologic Manifestations 9046
          sensory system disease 6281
            eye disease 3213
              corneal disease 210
                corneal dystrophy 50
                  corneal endothelial dystrophy 10
                    X-linked endothelial corneal dystrophy 0
paths to the root