Immunodeficiency 47
Disease ID: disease_node_13252
Connections displayed (default: 10).
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| Dbxref | MIM:300972, UMLS_CUI:C4310819 |
|---|---|
| Subclassof | DOID_0080012, DOID_0050571, DOID_612 |
| Data Source | DOID |
| Synonyms | CDG IIs, CDG2S, CDGIIs, IMD47, congenital disorder of glycosylation type IIs, immunodeficiency and hepatopathy with or without neurologic features |
| Doid Label | immunodeficiency 47 |
| Doid 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. |
| Has Phenotype | HP_0010978 |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_13252 |
| Doid Id | DOID_0112002 |
| Label | Immunodeficiency 47 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Immunologic Deficiency Syndromes(ID:disease_node_4256) (Disease)