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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 Autism and Speech Delay
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Accession:DOID:9004695 term browser browse the term
Definition:A neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits. Caused by heterozygous mutation in the TBR1 gene on chromosome 2q24. (OMIM)
Synonyms:exact_synonym: IDDAS;   autism-related phrase speech delay
 related_synonym: AUTS5;   autism, susceptibility to, 5
 primary_id: OMIM:606053
For additional species annotation, visit the Alliance of Genome Resources.


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Intellectual Developmental Disorder with Autism and Speech Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: AUTS5 ClinVar
OMIM
PMID:25232744 PMID:25741868 PMID:30250039 NCBI chr 3:47,677,720...47,685,902
Ensembl chr 3:47,677,720...47,685,902
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Language Development Disorders 76
        Intellectual Developmental Disorder with Autism and Speech Delay 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              developmental disorder of mental health 4277
                specific developmental disorder 3535
                  communication disorder 240
                    language disorder 141
                      Language Development Disorders 76
                        Intellectual Developmental Disorder with Autism and Speech Delay 1
paths to the root