immunodeficiency 47
Information
- Disease name
- immunodeficiency 47
- Disease ID
- DOID:0112002
- Description
- "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." [url:https\://pubmed.ncbi.nlm.nih.gov/27231034/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0050571
- Cross Reference ID (Disease Ontology)
- MIM:300972
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C4310819
- Exact Synonym (Disease Ontology)
- CDG IIs
- Exact Synonym (Disease Ontology)
- CDG2S
- Exact Synonym (Disease Ontology)
- CDGIIs
- Exact Synonym (Disease Ontology)
- congenital disorder of glycosylation type IIs
- Exact Synonym (Disease Ontology)
- IMD47
- Exact Synonym (Disease Ontology)
- immunodeficiency and hepatopathy with or without neurologic features
- MedGen concept unique identifier (MedGen Concept name)
- C4310819
- MedGen unique identifier (MedGen Concept name)
- 934786