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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:autosomal dominant intellectual developmental disorder 2
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Accession:DOID:0070032 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24. (DO)
Synonyms:exact_synonym: INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 2;   MRD2;   autosomal dominant mental retardation 2;   autosomal dominant non-syndromic intellectual disability 2
 primary_id: OMIM:614113


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autosomal dominant intellectual developmental disorder 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 2 ClinVar PMID:28492532 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18448
      Neurodevelopmental Disorders 6834
        intellectual disability 4291
          autosomal dominant intellectual developmental disorder 447
            autosomal dominant intellectual developmental disorder 2 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        central nervous system disease 12403
          brain disease 11639
            disease of mental health 8308
              developmental disorder of mental health 5545
                specific developmental disorder 4507
                  intellectual disability 4291
                    autosomal dominant intellectual developmental disorder 447
                      autosomal dominant intellectual developmental disorder 2 1
paths to the root