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Metadata
ID	DOID:0080569
Name	congenital disorder of glycosylation Ir
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
Xrefs	GARD:12398 OMIM:614507 ORDO:300536
Subsets	DO_rare_slim
Synonyms	congenital disorder of glycosylation 1r [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital disorder of glycosylation type I