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Metadata
ID	DOID:0080560
Name	congenital disorder of glycosylation Ih
Definition	A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14. https://www.ncbi.nlm.nih.gov/pubmed/28108845
Xrefs	GARD:9834 OMIM:608104 ORDO:79325
Subsets	DO_rare_slim
Synonyms	congenital disorder of glycosylation 1h [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital disorder of glycosylation type I