Visualize Submit Comment

Metadata
ID	DOID:0080561
Name	congenital disorder of glycosylation Ii
Definition	A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22. https://www.ncbi.nlm.nih.gov/pubmed/12684507
Xrefs	GARD:9836 OMIM:607906 ORDO:79326
Subsets	DO_rare_slim
Synonyms	congenital disorder of glycosylation 1i [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital disorder of glycosylation type I