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 SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
IDDSFAS is caused by homozygous mutation in the FBXL3 gene on chromosome 13q22. (OMIM)
Synonyms:
exact_synonym:
IDDSFAS; INTELLECTUAL DISABILITY, SHORT STATURE, FACIAL ANOMALIES, AND JOINT DISLOCATIONS; Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations