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Concentric Annular Macular Dystrophy - Ontology Report - Rat Genome Database

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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:Concentric Annular Macular Dystrophy
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Accession:DOID:9000341 term browser browse the term
Synonyms:exact_synonym: BCAMD;   MCDCA;   RP91;   benign concentric annular macular dystrophy;   bull's eye maculopathy;   retinitis pigmentosa 91
 broad_synonym: IMPG1-RELATED CONDITION
 primary_id: MESH:C537833
 alt_id: MIM:153870

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show annotations for term's descendants           Sort by:
Concentric Annular Macular Dystrophy 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 DNA:mutations:multiple:
ClinVar Annotator: match by term: Macular dystrophy, concentric annular 		ClinVar
RGD		 PMID:10090887 PMID:10958761 PMID:10958763 PMID:15614537 PMID:18285826 More... RGD:7829711 NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Benign concentric annular macular dystrophy ClinVar PMID:22968130 PMID:23806086 PMID:24088041 PMID:25259927 PMID:25270190 More... NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:76,540,141...76,545,818 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Benign concentric annular macular dystrophy | ClinVar Annotator: match by term: IMPG1-related condition 		OMIM
CTD
ClinVar		 PMID:4412179 PMID:14691150 PMID:16199547 PMID:23993198 PMID:25741868 More... NCBI chr 8:90,123,821...90,269,903
Ensembl chr 8:81,243,624...81,389,722 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Diseases of the Aged 1477
      macular degeneration 162
        Concentric Annular Macular Dystrophy 3
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        Neurologic Manifestations 10464
          sensory system disease 7381
            eye disease 3728
              retinal disease 1459
                retinal degeneration 928
                  fundus dystrophy 784
                    retinitis pigmentosa 607
                      Concentric Annular Macular Dystrophy 3
paths to the root