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 congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27. (DO)
Synonyms:
exact_synonym:
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV; CDG Id; CDG1D; CDGId; CDGS, TYPE IV; CDGS4; Congenital Disorder of Glycosylation Type 1D; carbohydrate-deficient glycoprotein syndrome, type 4; congenital disorder of glycosylation 1d; congenital disorder of glycosylation, type ID