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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: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 16023
    Developmental Diseases 9537
      Language Development Disorders 134
        Intellectual Developmental Disorder with Seizures and Language Delay 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              developmental disorder of mental health 3163
                specific developmental disorder 2343
                  communication disorder 295
                    language disorder 207
                      Language Development Disorders 134
                        Intellectual Developmental Disorder with Seizures and Language Delay 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.