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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:Intellectual Developmental Disorder with Seizures and Language Delay
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Accession:DOID:9000804 term browser browse the term
Definition:Global developmental delay with speech and language impairment and onset of seizures usually in the first few years of life. (OMIM)
Synonyms:exact_synonym: IDDSELD
 primary_id: OMIM:619000
For additional species annotation, visit the Alliance of Genome Resources.


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Intellectual Developmental Disorder with Seizures and Language Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd1b SET domain containing 1B, histone lysine methyltransferase ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY OMIM
ClinVar
PMID:25741868 PMID:29322246 PMID:31110234 PMID:31685013 PMID:32546566 NCBI chr12:38,843,167...38,869,180
Ensembl chr12:38,845,621...38,869,346
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Language Development Disorders 77
        Intellectual Developmental Disorder with Seizures and Language Delay 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              developmental disorder of mental health 3114
                specific developmental disorder 2316
                  communication disorder 211
                    language disorder 129
                      Language Development Disorders 77
                        Intellectual Developmental Disorder with Seizures and Language Delay 1
paths to the root