Autoinflammation, Antibody Deficiency, And Immune Dysregulation Syndrome
Disease ID: disease_node_20132
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:17486, MIM:614878, ORDO:324530, UMLS_CUI:C3553961 |
|---|---|
| Subclassof | DOID_0050736, DOID_612 |
| Data Source | DOID |
| Synonyms | APLAID, autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation |
| Doid Label | autoinflammation, antibody deficiency, and immune dysregulation syndrome |
| Doid Description | An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in PLCG2 on chromosome 16q23. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20132 |
| Doid Id | DOID_0070615 |
| Label | Autoinflammation, Antibody Deficiency, And Immune Dysregulation Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Immunologic Deficiency Syndromes(ID:disease_node_4256) (Disease)