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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 38
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Accession:DOID:0070068 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33. (DO)
Synonyms:exact_synonym: MRD38;   PRELDS;   autosomal dominant mental retardation 38;   autosomal dominant non-syndromic intellectual disability 38;   psychomotor retardation, epilepsy, and language disability syndrome
 broad_synonym: EEF1A2-RELATED DEVELOPMENTAL AND DEGENERATIVE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY
 primary_id: OMIM:616393


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autosomal dominant intellectual developmental disorder 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO
IAGP		 OMIM:616393
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:3066688 PMID:18414213 PMID:23033978 PMID:23647072 PMID:24697219 More... NCBI chr 2:180,783,551...180,798,808
Ensembl chr 2:180,789,446...180,798,807 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18297
    Developmental Disease 17907
      Neurodevelopmental Disorders 6891
        intellectual disability 4335
          autosomal dominant intellectual developmental disorder 459
            autosomal dominant intellectual developmental disorder 38 1
Path 2
Term Annotations click to browse term
  disease 18297
    disease of anatomical entity 15629
      nervous system disease 13500
        central nervous system disease 12082
          brain disease 11341
            disease of mental health 8196
              developmental disorder of mental health 5588
                specific developmental disorder 4535
                  intellectual disability 4335
                    autosomal dominant intellectual developmental disorder 459
                      autosomal dominant intellectual developmental disorder 38 1
paths to the root