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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:Retinal Macular Dystrophy 1, North Carolina Type
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Accession:DOID:9001226 term browser browse the term
Synonyms:exact_synonym: CAPED;   MCDR1;   NCMD;   North Carolina macular dystrophy;   central areolar pigment epithelial dystrophy;   central retinal pigment epithelial dystrophy;   progressive foveal dystrophy
 primary_id: MESH:C537835
 alt_id: OMIM:136550
 xref: NCI:C168999
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      eye disease 2664
        corneal disease 189
          corneal dystrophy 44
            Retinal Macular Dystrophy 1, North Carolina Type 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          eye disease 2664
            Hereditary Eye Diseases 580
              corneal dystrophy 44
                Retinal Macular Dystrophy 1, North Carolina Type 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.