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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 54
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Accession:DOID:0080230 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13. (DO)
Synonyms:exact_synonym: MRD54;   autosomal dominant mental retardation 54
 primary_id: OMIM:617799
 xref: EFO:0009164
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal dominant intellectual developmental disorder 54 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk2b calcium/calmodulin-dependent protein kinase II beta ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 54 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29100089 PMID:29560374 PMID:32581362 More... NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13067
      Neurodevelopmental Disorders 6203
        intellectual disability 3984
          autosomal dominant intellectual developmental disorder 359
            autosomal dominant intellectual developmental disorder 54 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13208
        central nervous system disease 11365
          brain disease 10659
            disease of mental health 7548
              developmental disorder of mental health 4910
                specific developmental disorder 4171
                  intellectual disability 3984
                    autosomal dominant intellectual developmental disorder 359
                      autosomal dominant intellectual developmental disorder 54 1
paths to the root