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 syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. (DO)
Synonyms:
exact_synonym:
FGS; Keller syndrome; OKS; Opitz-Kaveggia syndrome; mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum; mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Keller syndrome DNA:missense mutation:cds:p.G958E(human) DNA:missense mutation:cds:2881C>T(p.R961W)(human)
ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked ClinVar Annotator: match by term: FG syndrome 4 ClinVar Annotator: match by term: CASK-Related Disorder