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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 3
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Accession:DOID:0111013 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 on chromosome 1p22. (DO)
Synonyms:exact_synonym: CORD3
 primary_id: MESH:C565827
 alt_id: OMIA:001520;   OMIM:604116
 xref: GARD:10653
For additional species annotation, visit the Alliance of Genome Resources.


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cone-rod dystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by OMIM:604116
ClinVar Annotator: match by term: Cone-rod dystrophy 3
OMIM
ClinVar
PMID:9054934 PMID:9295268 PMID:9466990 PMID:9490294 PMID:9503029 PMID:9666097 PMID:9781034 PMID:9973280 PMID:10090887 PMID:10206579 PMID:10396622 PMID:10413692 PMID:10458172 PMID:10612508 PMID:10634594 PMID:10711710 PMID:10880298 PMID:10958763 PMID:11017087 PMID:11123914 PMID:11328725 PMID:11379881 PMID:11385708 PMID:11527935 PMID:11702214 PMID:11726554 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12592048 PMID:12796258 PMID:15161829 PMID:15192030 PMID:15516930 PMID:15579991 PMID:15614537 PMID:16103129 PMID:16123440 PMID:16303926 PMID:16400609 PMID:16546111 PMID:16682602 PMID:17277736 PMID:17296903 PMID:17325136 PMID:17982420 PMID:18285826 PMID:18414213 PMID:18854780 PMID:19074458 PMID:19217903 PMID:20554613 PMID:20647261 PMID:20696155 PMID:20981092 PMID:21786275 PMID:21911583 PMID:22025579 PMID:22229821 PMID:22264887 PMID:22312191 PMID:22328824 PMID:22427542 PMID:22449572 PMID:22661472 PMID:22661473 PMID:22968130 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23443024 PMID:23591405 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23776498 PMID:23953153 PMID:23982839 PMID:24011517 PMID:24033266 PMID:24082139 PMID:24154662 PMID:24265693 PMID:24444108 PMID:24453473 PMID:24509150 PMID:24632595 PMID:24713488 PMID:24763286 PMID:25066811 PMID:25082885 PMID:25087612 PMID:25097241 PMID:25283059 PMID:25312043 PMID:25333069 PMID:25412400 PMID:25472526 PMID:25525159 PMID:25544989 PMID:25640233 PMID:25698705 PMID:25712131 PMID:25741868 PMID:25910913 PMID:25921964 PMID:26161775 PMID:26247787 PMID:26261413 PMID:26355662 PMID:26527198 PMID:26593885 PMID:26872967 PMID:26976702 PMID:27032803 PMID:27535533 PMID:27583828 PMID:27775217 PMID:27939946 PMID:28041643 PMID:28118664 PMID:28181551 PMID:28327576 PMID:28446513 PMID:28492532 PMID:28559085 PMID:28947085 PMID:29114839 PMID:29162642 PMID:29310964 PMID:29343940 PMID:29461686 PMID:29555955 PMID:29847635 PMID:29854428 PMID:29925512 PMID:29971439 PMID:29975949 PMID:30060493 PMID:30093795 PMID:30576320 PMID:30718709 PMID:31576780 PMID:33223529 PMID:33546218 PMID:92952680 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
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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 3 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 3 1
paths to the root