{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0111457",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111457",
            "categories": []
        },
        {
            "id": "MONDO:0014405",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014405",
            "categories": []
        },
        {
            "id": "MIM:615934",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615934",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F4N7-1",
            "uniprot_ac": "E7F4N7",
            "uniprot_id": "STING_DANRE",
            "refseq_ac": "NP_001265766",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Stimulator of interferon genes protein",
                    "type": "recommended"
                },
                {
                    "name": "ERIS",
                    "type": "synonym"
                },
                {
                    "name": "MITA",
                    "type": "synonym"
                },
                {
                    "name": "MPYS",
                    "type": "synonym"
                },
                {
                    "name": "STING",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 173",
                    "type": "synonym"
                },
                {
                    "name": "stimulator of interferon genes protein",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 173",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sting1",
                    "type": "recommended"
                },
                {
                    "name": "sting1",
                    "type": "synonym"
                },
                {
                    "name": "sting",
                    "type": "synonym"
                },
                {
                    "name": "tmem173",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F4N7-1",
            "evidence": [
                {
                    "id": "0111457",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111457"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TBT3-1",
            "uniprot_ac": "Q3TBT3",
            "uniprot_id": "STING_MOUSE",
            "refseq_ac": "NP_001276520",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Stimulator of interferon genes protein",
                    "type": "recommended"
                },
                {
                    "name": "ERIS",
                    "type": "synonym"
                },
                {
                    "name": "Endoplasmic reticulum interferon stimulator",
                    "type": "synonym"
                },
                {
                    "name": "MMITA",
                    "type": "synonym"
                },
                {
                    "name": "Mediator of IRF3 activation",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 173",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum interferon stimulator",
                    "type": "synonym"
                },
                {
                    "name": "mSTING",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial mediator of IRF3 activation",
                    "type": "synonym"
                },
                {
                    "name": "stimulator of interferon genes protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "stimulator of interferon genes protein",
                    "type": "synonym"
                },
                {
                    "name": "stimulator of interferon protein",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 173",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sting1",
                    "type": "recommended"
                },
                {
                    "name": "2610307O08Rik",
                    "type": "synonym"
                },
                {
                    "name": "ERIS",
                    "type": "synonym"
                },
                {
                    "name": "Eris",
                    "type": "synonym"
                },
                {
                    "name": "MPYS",
                    "type": "synonym"
                },
                {
                    "name": "Mita",
                    "type": "synonym"
                },
                {
                    "name": "Mpys",
                    "type": "synonym"
                },
                {
                    "name": "STING-beta",
                    "type": "synonym"
                },
                {
                    "name": "STING",
                    "type": "synonym"
                },
                {
                    "name": "Sting1",
                    "type": "synonym"
                },
                {
                    "name": "Sting",
                    "type": "synonym"
                },
                {
                    "name": "Tmem173",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TBT3-1",
            "evidence": [
                {
                    "id": "0111457",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111457"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86WV6-1",
            "uniprot_ac": "Q86WV6",
            "uniprot_id": "STING_HUMAN",
            "refseq_ac": "NP_938023",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Stimulator of interferon genes protein",
                    "type": "recommended"
                },
                {
                    "name": "ERIS",
                    "type": "synonym"
                },
                {
                    "name": "Endoplasmic reticulum interferon stimulator",
                    "type": "synonym"
                },
                {
                    "name": "Mediator of IRF3 activation",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal methionine-proline-tyrosine-serine plasma membrane tetraspanner",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 173",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum IFN stimulator",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum interferon stimulator",
                    "type": "synonym"
                },
                {
                    "name": "hMITA",
                    "type": "synonym"
                },
                {
                    "name": "hSTING",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial mediator of IRF3 activation",
                    "type": "synonym"
                },
                {
                    "name": "stimulator of interferon genes protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "stimulator of interferon genes protein",
                    "type": "synonym"
                },
                {
                    "name": "stimulator of interferon protein",
                    "type": "synonym"
                },
                {
                    "name": "stimulator of interferon response cGAMP interactor-deltaC",
                    "type": "synonym"
                },
                {
                    "name": "stimulator of interferon response cGAMP interactor-deltaN",
                    "type": "synonym"
                },
                {
                    "name": "sting 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 173",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STING1",
                    "type": "recommended"
                },
                {
                    "name": "ERIS",
                    "type": "synonym"
                },
                {
                    "name": "MITA",
                    "type": "synonym"
                },
                {
                    "name": "MPYS",
                    "type": "synonym"
                },
                {
                    "name": "NET23",
                    "type": "synonym"
                },
                {
                    "name": "SAVI",
                    "type": "synonym"
                },
                {
                    "name": "STING-beta",
                    "type": "synonym"
                },
                {
                    "name": "STING1",
                    "type": "synonym"
                },
                {
                    "name": "STING",
                    "type": "synonym"
                },
                {
                    "name": "TMEM173",
                    "type": "synonym"
                },
                {
                    "name": "hMITA",
                    "type": "synonym"
                },
                {
                    "name": "hSTING",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86WV6-1",
            "evidence": [
                {
                    "id": "615934",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615934"
                },
                {
                    "id": "0111457",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111457"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M391-1",
            "uniprot_ac": "F1M391",
            "uniprot_id": "STING_RAT",
            "refseq_ac": "NP_001102592",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Stimulator of interferon genes protein",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane protein 173",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial transmembrane protein 173",
                    "type": "synonym"
                },
                {
                    "name": "rSTING",
                    "type": "synonym"
                },
                {
                    "name": "stimulator of interferon genes protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sting1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1562552",
                    "type": "synonym"
                },
                {
                    "name": "Sting1",
                    "type": "synonym"
                },
                {
                    "name": "Sting",
                    "type": "synonym"
                },
                {
                    "name": "Tmem173",
                    "type": "synonym"
                },
                {
                    "name": "rSTING",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M391-1",
            "evidence": [
                {
                    "id": "0111457",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111457"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4LFY9-1",
            "uniprot_ac": "A0A0B4LFY9",
            "uniprot_id": "STING_DROME",
            "refseq_ac": "NP_001286256",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Stimulator of interferon genes protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG1667-PB",
                    "type": "synonym"
                },
                {
                    "name": "STING",
                    "type": "synonym"
                },
                {
                    "name": "Sting-PB",
                    "type": "synonym"
                },
                {
                    "name": "dSTING",
                    "type": "synonym"
                },
                {
                    "name": "dmSTING",
                    "type": "synonym"
                },
                {
                    "name": "sting, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sting",
                    "type": "recommended"
                },
                {
                    "name": "CG1667",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1667",
                    "type": "synonym"
                },
                {
                    "name": "STING",
                    "type": "synonym"
                },
                {
                    "name": "Sting",
                    "type": "synonym"
                },
                {
                    "name": "dSTING",
                    "type": "synonym"
                },
                {
                    "name": "dSting",
                    "type": "synonym"
                },
                {
                    "name": "dmSTING",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4LFY9-1",
            "evidence": [
                {
                    "id": "0111457",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111457"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111457"
}