OBO ID: DOID:0111457 |
Term Name: | STING-associated vasculopathy with onset in infancy | Search Ontology: | |
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Definition: | 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. https://www.ncbi.nlm.nih.gov/pubmed/25029335 | ||
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Ontology: | Human Disease ( DOID:0111457 ) |
OTHER STING-associated vasculopathy with onset in infancy PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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