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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:Retinal Dystrophy with or without Macular Staphyloma
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Accession:DOID:9007941 term browser browse the term
Synonyms:exact_synonym: RDMS;   retinal dystrophy with macular staphyloma
 broad_synonym: CFAP410-RELATED CONDITION
 primary_id: OMIM:617547


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Retinal Dystrophy with or without Macular Staphyloma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: CFAP410-related condition | ClinVar Annotator: match by term: Retinal dystrophy with or without macular staphyloma OMIM
ClinVar		 PMID:9536098 PMID:11702989 PMID:16199547 PMID:17576681 PMID:21910225 More... NCBI chr10:77,814,364...77,821,272
Ensembl chr10:77,814,358...77,822,739 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    sensory system disease 6747
      eye disease 3460
        fundus dystrophy 722
          Retinal Dystrophy with or without Macular Staphyloma 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        Neurologic Manifestations 9790
          sensory system disease 6747
            eye disease 3460
              retinal disease 1230
                retinal degeneration 858
                  fundus dystrophy 722
                    Retinal Dystrophy with or without Macular Staphyloma 1
paths to the root