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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:Macular Dystrophy, Retinal, 2
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Accession:DOID:9002240 term browser browse the term
Synonyms:exact_synonym: MCDR2
 primary_id: MESH:C562746;   RDO:0012331
 alt_id: OMIM:608051
For additional species annotation, visit the Alliance of Genome Resources.


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Macular Dystrophy, Retinal, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Macular dystrophy, retinal, 2 OMIM
ClinVar
PMID:10205271 PMID:12657606 PMID:18654668 PMID:20393116 PMID:20859302 PMID:22183351 PMID:22581970 PMID:24265693 PMID:25356976 PMID:25741868 PMID:25910913 PMID:26161267 PMID:26355662 PMID:26393467 PMID:28041643 PMID:28095140 PMID:28492532 PMID:28559085 PMID:29847639 PMID:30718709 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
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
            Macular Dystrophy, Retinal, 2 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
                Macular Dystrophy, Retinal, 2 1
paths to the root