proteosome-associated autoinflammatory syndrome
Information
- Disease name
- proteosome-associated autoinflammatory syndrome
- Disease ID
- DOID:0060913
- Description
- "A syndrome that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications." [url:https\://pubmed.ncbi.nlm.nih.gov/25521013/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- MIM:PS256040
- Cross Reference ID (Disease Ontology)
- ORDO:324977