FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term congenital disorder of glycosylation Ih ID (Ontology) DOID:0080560 (Human Disease)
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.
Also Known As "congenital disorder of glycosylation 1h"
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 Genes
 congenital disorder of glycosylation Ih       1
 for disease ribbon | congenital disorder of glycosylation Ih       1
 model of | congenital disorder of glycosylation Ih       1
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autosomal genetic disease
 |__autosomal recessive disease__________________
congenital disorder of glycosylation             |
 |__congenital disorder of glycosylation type I__|
                                                 congenital disorder of glycosylation Ih  1 rec.
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Is a congenital disorder of glycosylation type I
autosomal recessive disease
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Synonyms
  • "congenital disorder of glycosylation 1h" EXACT
Secondary IDs
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GARD:9834
MIM:608104
ORDO:79325