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 CARDIAC ARRHYTHMIA
This term is obsolete.
We suggest searching for the text of the ontology term or for a keyword rather than searching for the ontology ID.
For more information, please contact us.
Definition:
An autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. (OMIM)