Proteosome-Associated Autoinflammatory Syndrome 5
Disease ID: disease_node_15595
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| Dbxref | MIM:619175 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060913 |
| Data Source | DOID |
| Synonyms | PRAAS5 |
| Doid Label | proteosome-associated autoinflammatory syndrome 5 |
| Doid Description | A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15595 |
| Doid Id | DOID_0060919 |
| Label | Proteosome-Associated Autoinflammatory Syndrome 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Proteosome-Associated Autoinflammatory Syndrome(ID:disease_node_15594) (Disease)