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 fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22. (DO)
Synonyms:
exact_synonym:
CDG1AA; congenital disorder of glycosylation 1aa; congenital disorder of glycosylation type 1AA; congenital disorder of glycosylation type Iaa
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iaa ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 1aa