WormBase Tree Display for DO_term: DOID:0080560
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| DOID:0080560 | Name | congenital disorder of glycosylation Ih | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | congenital disorder of glycosylation 1h | |||
| Parent | Is_a | DOID:0050570 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 608104 | |
| Attribute_of | Gene_by_orthology | WBGene00007464 |
