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MIRAGE
congenital disorder of glycosylation type IIj
Summary
- Synonym
-
- CDG IIj
- CDG syndrome type IIj
- CDG2J
- CDGIIj
- COG4-CDG
- Carbohydrate deficient glycoprotein syndrome type IIj
- Congenital disorder of glycosylation type 2j
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070262
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001510 | Growth delay |
| HP:0001531 | Failure to thrive in infancy |
| HP:0001873 | Thrombocytopenia |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002254 | Intermittent diarrhea |
| HP:0002509 | Limb hypertonia |
| HP:0002788 | Recurrent upper respiratory tract infections |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003124 | Hypercholesterolemia |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
