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congenital disorder of glycosylation type IIo
Summary
- Synonym
-
- CCDC115-CDG
- CDG IIo
- CDG syndrome type IIo
- CDG2O
- CDGIIdo
- Carbohydrate deficient glycoprotein syndrome type IIo
- Congenital disorder of glycosylation type 2o
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070267
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0001744 | Splenomegaly |
