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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 non-syndromic intellectual disability 7
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Accession:DOID:0070037 term browser browse the term
Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13. (DO)
Synonyms:exact_synonym: MRD7;   mental retardation, autosomal dominant 7
 related_synonym: INTELLECTUAL DISABILITY SYNDROME DUE TO A DYRK1A POINT MUTATION
 primary_id: OMIM:614104
 alt_id: RDO:9000546
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant non-syndromic intellectual disability 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by OMIM:614104
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 7
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17237124 PMID:17576681 PMID:18414213 PMID:21204217 PMID:21294719 PMID:23099646 PMID:23160955 PMID:23512985 PMID:24033266 PMID:24088041 PMID:25167861 PMID:25326635 PMID:25533962 PMID:25641759 PMID:25707398 PMID:25741868 PMID:25920557 PMID:25944381 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26922654 PMID:27241786 PMID:28053047 PMID:28191890 PMID:28492532 PMID:28708303 PMID:29034068 PMID:30564305 PMID:30619508 PMID:32581362 PMID:32860008 PMID:33624935 NCBI chr11:34,858,339...34,958,733
Ensembl chr11:34,865,532...34,956,536
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        intellectual disability 3388
          non-syndromic intellectual disability 402
            autosomal dominant non-syndromic intellectual disability 308
              autosomal dominant non-syndromic intellectual disability 7 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              developmental disorder of mental health 4277
                specific developmental disorder 3535
                  intellectual disability 3388
                    non-syndromic intellectual disability 402
                      autosomal dominant non-syndromic intellectual disability 308
                        autosomal dominant non-syndromic intellectual disability 7 1
paths to the root