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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:0000348 | High forehead |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000540 | Hypermetropia |
| HP:0000601 | Hypotelorism |
| HP:0000973 | Cutis laxa |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001256 | Intellectual disability, mild |
| HP:0001263 | Global developmental delay |
| HP:0001382 | Joint hypermobility |
