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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:cone-rod dystrophy 12
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Accession:DOID:0111019 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15. (DO)
Synonyms:exact_synonym: CORD12
 primary_id: MESH:C567206
 alt_id: OMIM:612657
For additional species annotation, visit the Alliance of Genome Resources.


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cone-rod dystrophy 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prom1 prominin 1 ISO ClinVar Annotator: match by OMIM:612657
ClinVar Annotator: match by term: Cone-rod dystrophy 12
OMIM
ClinVar
PMID:10205271 PMID:12657606 PMID:17605048 PMID:18654668 PMID:19718270 PMID:20393116 PMID:20554613 PMID:20859302 PMID:22183351 PMID:22581970 PMID:24154662 PMID:24265693 PMID:24474277 PMID:25356976 PMID:25741868 PMID:25910913 PMID:25999674 PMID:26103963 PMID:26161267 PMID:26261540 PMID:26355662 PMID:26393467 PMID:26702251 PMID:27874104 PMID:28041643 PMID:28095140 PMID:28492532 PMID:28559085 PMID:29555955 PMID:29847639 PMID:30718709 PMID:33546218 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    sensory system disease 5332
      eye disease 2643
        Hereditary Eye Diseases 600
          cone-rod dystrophy 64
            cone-rod dystrophy 12 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        sensory system disease 5332
          eye disease 2643
            retinal disease 805
              retinal degeneration 478
                fundus dystrophy 344
                  cone-rod dystrophy 64
                    cone-rod dystrophy 12 1
paths to the root