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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 19
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Accession:DOID:0111025 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24. (DO)
Synonyms:exact_synonym: CORD19;   TTLL5-RELATED CONDITION
 primary_id: OMIM:615860


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cone-rod dystrophy 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttll5 tubulin tyrosine ligase-like family, member 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 19 | ClinVar Annotator: match by term: TTLL5-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24791901 PMID:25741868 PMID:27162334 PMID:28173158 PMID:28492532 NCBI chr12:85,871,417...86,100,534
Ensembl chr12:85,871,433...86,108,667 		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
          retinitis pigmentosa 623
            cone-rod dystrophy 19 1
Path 2
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            eye disease 3460
              retinal disease 1230
                retinal degeneration 858
                  fundus dystrophy 722
                    cone-rod dystrophy 122
                      cone-rod dystrophy 19 1
paths to the root