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.
A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. (DO)
Synonyms:
exact_synonym:
AP1S2-RELATED CONDITION; Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures; Fried syndrome; MENTAL RETARDATION, X-LINKED 59; MRX59; MRXS21; MRXS5; MRXSF; PGS; Pettigrew syndrome; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome; X-linked mental retardation, with Dandy-Walker malformation, basal ganglia disease, and seizures; X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures; mental retardation, X-linked syndromic 21; mental retardation, X-linked syndromic 5; mental retardation, X-linked syndromic, Fried type
CTD Direct Evidence: marker/mechanism OMIM:304340 ClinVar Annotator: match by term: AP1S2-related condition | ClinVar Annotator: match by term: Pettigrew syndrome