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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:INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA
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Accession:DOID:9009192 term browser browse the term
Synonyms:exact_synonym: IDDECA
 primary_id: OMIM:618060
For additional species annotation, visit the Alliance of Genome Resources.


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INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rora RAR-related orphan receptor A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA ClinVar
OMIM
PMID:25741868, PMID:28492532, PMID:29656859 NCBI chr 8:75,515,886...75,616,477
Ensembl chr 8:75,516,904...75,607,212
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16042
    Developmental Diseases 9538
      Neurodevelopmental Disorders 4619
        intellectual disability 2166
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA 1
Path 2
Term Annotations click to browse term
  disease 16042
    disease of anatomical entity 15294
      nervous system disease 10900
        central nervous system disease 9048
          brain disease 8372
            disease of mental health 6050
              developmental disorder of mental health 3163
                specific developmental disorder 2343
                  intellectual disability 2166
                    INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.