Term Name: congenital disorder of glycosylation Iaa
Synonyms: congenital disorder of glycosylation 1aa
Definition: 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.
Ontology: Human Disease [DOID:0080553]   (DOID:0080553)

Relationships
is a type of: autosomal recessive disease congenital disorder of glycosylation type I