| Metadata | |
|---|---|
| ID | DOID:0112002 |
| Name | immunodeficiency 47 |
| 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. https://pubmed.ncbi.nlm.nih.gov/27231034/ |
| Xrefs | |
| Synonyms |
CDG IIs [EXACT] CDG2S [EXACT] CDGIIs [EXACT] congenital disorder of glycosylation type IIs [EXACT] IMD47 [EXACT] immunodeficiency and hepatopathy with or without neurologic features [EXACT] |
| Parent Relationships |
is_a primary immunodeficiency disease |