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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 29
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Accession:DOID:0070059 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of SETBP1 on chromosome 18q12.3. (DO)
Synonyms:exact_synonym: INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 29;   MRD29;   autosomal dominant mental retardation 29;   autosomal dominant non-syndromic intellectual disability 29
 broad_synonym: SETBP1-RELATED DISORDER
 primary_id: OMIM:616078
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal dominant intellectual developmental disorder 29 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 29 OMIM
ClinVar
PMID:16199547 PMID:18414213 PMID:20436468 PMID:21037274 PMID:25028416 More... NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13068
      Neurodevelopmental Disorders 6204
        intellectual disability 3983
          autosomal dominant intellectual developmental disorder 358
            autosomal dominant intellectual developmental disorder 29 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13207
        central nervous system disease 11364
          brain disease 10660
            disease of mental health 7549
              developmental disorder of mental health 4910
                specific developmental disorder 4170
                  intellectual disability 3983
                    autosomal dominant intellectual developmental disorder 358
                      autosomal dominant intellectual developmental disorder 29 1
paths to the root