Sting-Associated Vasculopathy With Onset In Infancy
Disease ID: disease_node_20039
Connections displayed (default: 10).
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| Dbxref | GARD:12357, MIM:615934, ORDO:425120 |
|---|---|
| Subclassof | DOID_0050736, DOID_0060051 |
| Data Source | DOID |
| Synonyms | SAVI |
| Doid Label | STING-associated vasculopathy with onset in infancy |
| Doid Description | An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31. |
| Has Symptom | SYMP_0000132 |
| Existence Starts During | HP_0003593 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20039 |
| Doid Id | DOID_0111457 |
| Label | Sting-Associated Vasculopathy With Onset In Infancy |
- Outgoing r'ship
HAS_SYMPTOMto/from Necrosis(ID:disease_node_5435;disease_node_21082) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autoimmune Disease Of Cardiovascular System(ID:disease_node_13137) (Disease)