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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
 primary_id: MESH:C564597;   RDO:0013502
 alt_id: OMIM:610283
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:610283
ClinVar Annotator: match by term: Cone-rod dystrophy 10
OMIM
ClinVar
PMID:16199541 PMID:24033266 PMID:25307848 PMID:25741868 PMID:26103963 PMID:28492532 NCBI chr 2:187,799,568...187,823,014
Ensembl chr 2:187,799,568...187,822,997
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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 10 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 10 1
paths to the root