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immunodeficiency 47
Summary
- Synonym
-
- CDG IIs
- CDG2S
- CDGIIs
- IMD47
- congenital disorder of glycosylation type IIs
- immunodeficiency and hepatopathy with or without neurologic features
- Definition
- A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28.
- Super Class
- X-linked recessive disease congenital disorder of glycosylation type II primary immunodeficiency disease
External Links
- Disease Ontology
- DOID:0112002
- Mondo Disease Ontology
- UMLS
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001394 | Cirrhosis |
| HP:0001395 | Hepatic fibrosis |
| HP:0001396 | Cholestasis |
| HP:0001397 | Hepatic steatosis |
| HP:0001419 | X-linked recessive inheritance |
| HP:0001508 | Failure to thrive |
| HP:0001522 | Death in infancy |
| HP:0001738 | Exocrine pancreatic insufficiency |
| HP:0001744 | Splenomegaly |
| HP:0001747 | Accessory spleen |
