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Summary Literature (0)
DOID:0080553 - congenital disorder of glycosylation Iaa

Disease Ontology 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.

Synonyms: congenital disorder of glycosylation 1aa,

Xenbase Genes :



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), congenital disorder of glycosylation type I (is_a)