|OBO ID: DOID:0080569|
|Term Name:||congenital disorder of glycosylation Ir||Search Ontology:|
|Definition:||A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/22305527|
|Ontology:||Human Disease (DOID:0080569)|
|is a type of:||
OTHER congenital disorder of glycosylation Ir PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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