|OBO ID: DOID:0080561|
|Term Name:||congenital disorder of glycosylation Ii||Search Ontology:|
|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|
|Ontology:||Human Disease (DOID:0080561)|
|is a type of:||
OTHER congenital disorder of glycosylation Ii PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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