Otulipenia
Disease ID: disease_node_18165
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| Dbxref | GARD:13198, MIM:617099 |
|---|---|
| Subclassof | DOID_0050737, DOID_2914 |
| Data Source | DOID |
| Synonyms | autoinflammation, panniculitis and dermatosis syndrome, otulin-related autoinflammatory syndrome |
| Doid Label | otulipenia |
| Doid Description | An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18165 |
| Doid Id | DOID_0080163 |
| Label | Otulipenia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Immune System Disease(ID:disease_node_18164) (Disease)