Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
Retinal Macular Dystrophy 1, North Carolina Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm13 PR/SET domain 13 ISO ClinVar Annotator: match by term: Macular dystrophy retinal 1 North Carolina type ClinVar PMID:32476814 NCBI chr 5:35,821,023...35,831,897
Ensembl chr 5:35,823,983...35,831,712
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        corneal disease 198
          corneal dystrophy 45
            Retinal Macular Dystrophy 1, North Carolina Type 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            Hereditary Eye Diseases 600
              corneal dystrophy 45
                Retinal Macular Dystrophy 1, North Carolina Type 1
paths to the root