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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 AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES
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Accession:DOID:9008432 term browser browse the term
Definition:A neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum.
Synonyms:exact_synonym: IDDALDS
 narrow_synonym: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES;   INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES
 primary_id: OMIM:618906
For additional species annotation, visit the Alliance of Genome Resources.



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INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES | ClinVar Annotator: match by term: Intellectual developmental disorder with autistic features and language delay, with or without seizures OMIM
ClinVar
PMID:25741868 PMID:30021165 PMID:31616000 NCBI chr10:90,553,124...90,873,477
Ensembl chr10:90,553,002...90,868,756
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Language Development Disorders 46
        INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          brain disease 10584
            disease of mental health 7496
              developmental disorder of mental health 4864
                specific developmental disorder 4125
                  communication disorder 298
                    language disorder 132
                      Language Development Disorders 46
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES 1
paths to the root