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Repository for lectin-assisted multimodality data
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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:0012358 | Abnormal protein O-linked glycosylation |
| HP:0100874 | Thick hair |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001250 | Seizure |
| HP:0001399 | Hepatic failure |
| HP:0001508 | Failure to thrive |
| HP:0001744 | Splenomegaly |
| HP:0001999 | Abnormal facial shape |
| HP:0002028 | Chronic diarrhea |
| HP:0002059 | Cerebral atrophy |
