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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:This disease is characterized by global developmental delay with speech and language impairment and onset of seizures usually in the first few years of life.
Synonyms:exact_synonym: IDDSELD;   SETD1B-ASSOCIATED DISORDER;   SETD1B-RELATED CONDITION
 primary_id: MIM:619000


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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 | ClinVar Annotator: match by term: SETD1B-associated disorder | ClinVar Annotator: match by term: SETD1B-related condition OMIM
ClinVar		 PMID:25741868 PMID:25954003 PMID:27618451 PMID:28490743 PMID:28492532 More... NCBI chr12:39,056,809...39,082,399
Ensembl chr12:39,058,262...39,082,566 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Language Development Disorders 57
        Intellectual Developmental Disorder with Seizures and Language Delay 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          brain disease 5852
            disease of mental health 3944
              developmental disorder of mental health 2218
                specific developmental disorder 1593
                  communication disorder 240
                    language disorder 81
                      Language Development Disorders 57
                        Intellectual Developmental Disorder with Seizures and Language Delay 1
paths to the root