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
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)
ClinVar Annotator: match by term: AUTS5 | ClinVar Annotator: match by term: Autism, susceptibility to, 5 | ClinVar Annotator: match by term: TBR1-related condition