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cone-rod dystrophy 2 - 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 2
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Accession:DOID:0111005 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: CORD2;   CRD2;   RCRD2;   retinal cone-rod dystrophy 2
 primary_id: MIM:120970
 alt_id: OMIA:001675
 xref: GARD:6145;   NCI:C162399

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cone-rod dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:25741868 PMID:28492532 NCBI chr10:57,154,226...57,163,455
Ensembl chr10:56,655,693...56,664,922 		JBrowse link
G Crx cone-rod homeobox ISO
ISS		 OMIM:120970
ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2		 OMIM
MouseDO
ClinVar		 PMID:1583653 PMID:2098109 PMID:9390563 PMID:9427255 PMID:9792858 More... NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:76,540,141...76,545,818 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO Retinal atrophy - Cone-rod dystrophy 2 OMIA PMID:15064680 PMID:22065099 PMID:24045995 PMID:27506978 PMID:30050836 More... NCBI chr11:77,410,986...77,465,540
Ensembl chr11:63,905,590...63,960,093 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 ClinVar PMID:10205271 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527 		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 2 4
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 2 4
paths to the root