Visualize Submit Comment

Metadata
ID	DOID:0080556
Name	congenital disorder of glycosylation Id
Definition	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. https://www.ncbi.nlm.nih.gov/pubmed/28108845
Xrefs	GARD:9827 OMIM:601110 ORDO:79321
Subsets	DO_rare_slim
Synonyms	congenital disorder of glycosylation 1d [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital disorder of glycosylation type I