{
    "disease_id": "DOID:0111457",
    "recommended_name": {
        "id": "DOID:0111457",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111457",
        "name": "STING-associated vasculopathy with onset in infancy",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0111457",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111457",
            "name": "SAVI",
            "description": ""
        },
        {
            "id": "MONDO:0014405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014405",
            "name": "STING-associated vasculopathy with onset in infancy",
            "description": "STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation."
        },
        {
            "id": "MONDO:0014405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014405",
            "name": "SAVI",
            "description": ""
        },
        {
            "id": "MONDO:0014405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014405",
            "name": "STING-associated vasculopathy, infantile-onset",
            "description": ""
        },
        {
            "id": "MIM:615934",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615934",
            "name": "STING-associated vasculopathy, infantile-onset",
            "description": "STING-associated vasculopathy, infantile-onset"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111457"
    ],
    "unlinked_id_list": []
}