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.
An autosomal recessive severe multisystem developmental disorder characterized by delayed psychomotor development apparent from infancy, hypotonia, and variable additional features, such as short stature, seizures, visual impairment, and cerebellar atrophy. (OMIM)
Synonyms:
exact_synonym:
CDG IIn; CDG syndrome type IIn; CDG2N; CDGIIdn; CDGIIn; SLC39A8-CDG; carbohydrate deficient glycoprotein syndrome type IIn; congenital disorder of glycosylation type 2N