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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 16
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Accession:DOID:0111022 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. (DO)
Synonyms:exact_synonym: CORD16
 broad_synonym: C8ORF37-RELATED DISORDER;   CFAP418-RELATED CONDITION
 related_synonym: RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT;   RP64;   retinitis pigmentosa 64
 primary_id: OMIM:614500


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cone-rod dystrophy 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap418 cilia and flagella associated protein 418 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:614500
ClinVar Annotator: match by term: CFAP418-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy 16 | ClinVar Annotator: match by term: Retinitis pigmentosa 64		 OMIM
CTD
MouseDO
ClinVar		 PMID:16199547 PMID:22177090 PMID:25515582 PMID:25741868 PMID:25802487 More... NCBI chr 5:23,996,395...24,015,609
Ensembl chr 5:23,996,718...24,015,605 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      eye disease 3492
        fundus dystrophy 703
          retinitis pigmentosa 601
            cone-rod dystrophy 16 1
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              retinal disease 1224
                retinal degeneration 854
                  fundus dystrophy 703
                    cone-rod dystrophy 106
                      cone-rod dystrophy 16 1
paths to the root