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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 SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE
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Accession:DOID:9003893 term browser browse the term
Definition:A disease characterized by retinal and neurodevelopmental disease as well as occasional anomalies of glucose homeostasis. Patients exhibit low vision, photophobia, and nystagmus, and show an electronegative waveform in response to bright flash under dark adaptation on electroretinography, with severely reduced and delayed light-adapted responses. Neurodevelopmental features include poor to no language and autistic behaviors.
Synonyms:exact_synonym: CRSDS;   congenital nonprogressive cone-rod synaptic disorder syndrome
 primary_id: OMIM:618970
For additional species annotation, visit the Alliance of Genome Resources.


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CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE ClinVar
OMIM
PMID:32470375 NCBI chr 7:78,091,998...78,594,164
Ensembl chr 7:78,092,037...78,594,138
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Neurodevelopmental Disorders 5663
        CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        sensory system disease 5580
          eye disease 2720
            eye degenerative disease 507
              retinal degeneration 505
                fundus dystrophy 370
                  cone-rod dystrophy 79
                    CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE 1
paths to the root