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Cone-Rod Dystrophy and Hearing Loss 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 and Hearing Loss 2
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Accession:DOID:9008509 term browser browse the term
Definition:Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystrophy, with photophobia and progressive reduction in visual acuity, associated with sensorineural hearing loss. CRDHL2 is caused by homozygous or compound heterozygous mutation in the CEP250 gene on chromosome 20q11.(OMIM)
Synonyms:exact_synonym: CEP250-RELATED CONDITION;   CRDHL2
 xref: MIM:618358;   MONDO:0020780

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Cone-Rod Dystrophy and Hearing Loss 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: CEP250-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24780881 PMID:25741868 PMID:28005958 More... NCBI chr 2:155,798,197...155,840,820
Ensembl chr 2:155,798,378...155,840,820 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16268
    sensory system disease 7193
      Hearing Disorders 843
        Hearing Loss 837
          Cone-Rod Dystrophy and Hearing Loss 2
            Cone-Rod Dystrophy and Hearing Loss 2 1
Path 2
Term Annotations click to browse term
  disease 16268
    disease of anatomical entity 15860
      nervous system disease 13798
        Neurologic Manifestations 10214
          sensory system disease 7193
            eye disease 3724
              retinal disease 1475
                retinal degeneration 940
                  fundus dystrophy 806
                    cone-rod dystrophy 123
                      Cone-Rod Dystrophy and Hearing Loss 2
                        Cone-Rod Dystrophy and Hearing Loss 2 1
paths to the root