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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 9
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Accession:DOID:0111020 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11. (DO)
Synonyms:exact_synonym: CORD9
 primary_id: OMIM:612775
 alt_id: RDO:0009706


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cone-rod dystrophy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 9 OMIM
ClinVar		 PMID:9536098 PMID:11581183 PMID:17576681 PMID:19409519 PMID:25091951 More... NCBI chr15:47,523,768...47,601,722
Ensembl chr15:47,523,771...47,601,710 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    sensory system disease 6507
      eye disease 3325
        Hereditary Eye Diseases 1080
          cone-rod dystrophy 106
            cone-rod dystrophy 9 1
Path 2
Term Annotations click to browse term
  disease 17412
    Pathological Conditions, Signs and Symptoms 11799
      Signs and Symptoms 9738
        Neurologic Manifestations 9418
          sensory system disease 6507
            eye disease 3325
              retinal disease 1172
                retinal degeneration 822
                  fundus dystrophy 693
                    cone-rod dystrophy 106
                      cone-rod dystrophy 9 1
paths to the root