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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 7:70,248,104...70,759,134
Ensembl chr 7:70,243,872...70,757,491 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Neurodevelopmental Disorders 6147
        CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        sensory system disease 6388
          eye disease 2927
            eye degenerative disease 529
              retinal degeneration 527
                fundus dystrophy 387
                  cone-rod dystrophy 85
                    CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE 1
paths to the root