Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   TBR1-RELATED CONDITION;   autism-related phrase speech delay
 related_synonym: AUTS5;   autism, susceptibility to, 5
 primary_id: MIM:606053



show annotations for term's descendants           Sort by:
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 Annotator: match by term: Autism, susceptibility to, 5 | ClinVar Annotator: match by term: TBR1-related condition OMIM
ClinVar
PMID:11353400 PMID:25232744 PMID:25741868 PMID:28492532 PMID:30250039 More... NCBI chr 3:66,758,805...66,769,626
Ensembl chr 3:46,351,213...46,361,041
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Language Development Disorders 74
        Intellectual Developmental Disorder with Autism and Speech Delay 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        central nervous system disease 12636
          brain disease 11855
            disease of mental health 8454
              developmental disorder of mental health 5648
                specific developmental disorder 4610
                  communication disorder 421
                    language disorder 172
                      Language Development Disorders 74
                        Intellectual Developmental Disorder with Autism and Speech Delay 1
paths to the root