| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital disorder of glycosylation 1h [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some ataxia has symptom some feeding problem has symptom some failure to thrive has symptom some seizure has material basis in some autosomal recessive inheritance has symptom some ascites disease has basis in some Abnormality of prenatal development or birth has symptom some vomiting has symptom some edema has symptom some left upper quadrant abdominal rigidity has symptom some diarrhea has symptom some hepatomegaly |