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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:0003256 | Abnormality of the coagulation cascade |
| HP:0004798 | Recurrent infection of the gastrointestinal tract |
| HP:0006583 | Fatal liver failure in infancy |
| HP:0006892 | Frontotemporal cerebral atrophy |
| HP:0008935 | Generalized neonatal hypotonia |
| HP:0008936 | Axial hypotonia |
| HP:0011172 | Complex febrile seizure |
| HP:0011968 | Feeding difficulties |
| HP:0012301 | Type II transferrin isoform profile |
| HP:0012347 | Abnormal protein N-linked glycosylation |
