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.
Congenital disorders of glycosylation (CDGs) comprise a group of multisystem diseases with mostly severe psychomotor and mental retardation. Type I CDG comprises those disorders in which there are defects that affect biosynthesis of dolichol-linked oligosaccharides in the cytosol or the endoplasmic reticulum (ER), as well as defects involving the transfer of oligosaccharides onto nascent glycoproteins. Type II CDG comprises all defects of further trimming and elongation of N-linked oligosaccharides in the ER and Golgi. Congenital disorder of glycosylation type Ik is caused by homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase (ALG1) on chromosome 16p13. (OMIM)
Synonyms:
exact_synonym:
CDG Ik; CDG1K; CDGIk; congenital disorder of glycosylation 1k; congenital disorder of glycosylation, type 1K; congenital disorder of glycosylation, type IK