Proteosome-Associated Autoinflammatory Syndrome 2
Disease ID: disease_node_15598
Connections displayed (default: 10).
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| Dbxref | MIM:618048 |
|---|---|
| Subclassof | DOID_0050736, DOID_0060913 |
| Data Source | DOID |
| Synonyms | PRAAS2 |
| Doid Label | proteosome-associated autoinflammatory syndrome 2 |
| Doid Description | A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15598 |
| Doid Id | DOID_0060914 |
| Label | Proteosome-Associated Autoinflammatory Syndrome 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Proteosome-Associated Autoinflammatory Syndrome(ID:disease_node_15594) (Disease)