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cone-rod dystrophy 10 - 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:cone-rod dystrophy 10
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Accession:DOID:0111017 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22. (DO)
Synonyms:exact_synonym: CORD10
 broad_synonym: SEMA4A-RELATED CONDITION
 primary_id: MESH:C564597
 alt_id: MIM:610283

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cone-rod dystrophy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema4a semaphorin 4A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cone-rod dystrophy 10 | ClinVar Annotator: match by term: SEMA4A-related condition		 OMIM
CTD
ClinVar		 PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    sensory system disease 7381
      eye disease 3728
        fundus dystrophy 784
          retinitis pigmentosa 607
            cone-rod dystrophy 10 1
Path 2
Term Annotations click to browse term
  disease 19140
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11222
        Neurologic Manifestations 10464
          sensory system disease 7381
            eye disease 3728
              retinal disease 1459
                retinal degeneration 928
                  fundus dystrophy 784
                    cone-rod dystrophy 107
                      cone-rod dystrophy 10 1
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