{
    "disease_id": "DOID:0050629",
    "recommended_name": {
        "id": "DOID:0050629",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050629",
        "name": "Aicardi-Goutieres syndrome",
        "description": "A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections."
    },
    "synonyms": [
        {
            "id": "DOID:0050629",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050629",
            "name": "Cree encephalitis",
            "description": ""
        },
        {
            "id": "DOID:0050629",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050629",
            "name": "AGS",
            "description": ""
        },
        {
            "id": "MONDO:0009165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009165",
            "name": "Aicardi-Goutieres syndrome 1",
            "description": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene."
        },
        {
            "id": "MONDO:0009165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009165",
            "name": "Aicardi-Goutieres syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009165",
            "name": "Aicardi-Goutieres syndrome 1, dominant and recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009165",
            "name": "Aicardi-Goutieres syndrome caused by mutation in TREX1",
            "description": ""
        },
        {
            "id": "MONDO:0009165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009165",
            "name": "Aicardi-Goutieres syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009165",
            "name": "TREX1 Aicardi-Goutieres syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009165",
            "name": "AGS1",
            "description": ""
        },
        {
            "id": "MONDO:0012429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012429",
            "name": "Aicardi-Goutieres syndrome 2",
            "description": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene."
        },
        {
            "id": "MONDO:0012429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012429",
            "name": "Aicardi-Goutieres syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0012429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012429",
            "name": "Aicardi-Goutieres syndrome caused by mutation in RNASEH2B",
            "description": ""
        },
        {
            "id": "MONDO:0012429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012429",
            "name": "Aicardi-Goutieres syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012429",
            "name": "RNASEH2B Aicardi-Goutieres syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012429",
            "name": "AGS2",
            "description": ""
        },
        {
            "id": "MONDO:0012429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012429",
            "name": "RNASEH2B-related Aicardi-Goutieres syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012471",
            "name": "Aicardi-Goutieres syndrome 3",
            "description": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene."
        },
        {
            "id": "MONDO:0012471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012471",
            "name": "Aicardi-Goutieres syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0012471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012471",
            "name": "Aicardi-Goutieres syndrome caused by mutation in RNASEH2C",
            "description": ""
        },
        {
            "id": "MONDO:0012471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012471",
            "name": "Aicardi-Goutieres syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012471",
            "name": "RNASEH2C Aicardi-Goutieres syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012471",
            "name": "AGS3",
            "description": ""
        },
        {
            "id": "MONDO:0012471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012471",
            "name": "RNASEH2C -related Aicardi-Goutieres syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012472",
            "name": "Aicardi-Goutieres syndrome 4",
            "description": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene."
        },
        {
            "id": "MONDO:0012472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012472",
            "name": "Aicardi-Goutieres syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0012472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012472",
            "name": "Aicardi-Goutieres syndrome caused by mutation in RNASEH2A",
            "description": ""
        },
        {
            "id": "MONDO:0012472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012472",
            "name": "Aicardi-Goutieres syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012472",
            "name": "RNASEH2A Aicardi-Goutieres syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012472",
            "name": "AGS4",
            "description": ""
        },
        {
            "id": "MONDO:0012472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012472",
            "name": "RNASEH2A-related Aicardi-Goutieres syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013059",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013059",
            "name": "Aicardi-Goutieres syndrome 5",
            "description": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene."
        },
        {
            "id": "MONDO:0013059",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013059",
            "name": "Aicardi-Goutieres syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0013059",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013059",
            "name": "Aicardi-Goutieres syndrome caused by mutation in SAMHD1",
            "description": ""
        },
        {
            "id": "MONDO:0013059",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013059",
            "name": "Aicardi-Goutieres syndrome type 5",
            "description": ""
        },
        {
            "id": "MONDO:0013059",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013059",
            "name": "SAMHD1 Aicardi-Goutieres syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013059",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013059",
            "name": "AGS5",
            "description": ""
        },
        {
            "id": "MONDO:0013059",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013059",
            "name": "SAMHD1-related Aicardi-Goutieres syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014007",
            "name": "Aicardi-Goutieres syndrome 6",
            "description": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene."
        },
        {
            "id": "MONDO:0014007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014007",
            "name": "ADAR Aicardi-Goutieres syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014007",
            "name": "Adar Aicardi-Goutieres syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014007",
            "name": "Aicardi-Goutieres syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0014007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014007",
            "name": "Aicardi-Goutieres syndrome caused by mutation in ADAR",
            "description": ""
        },
        {
            "id": "MONDO:0014007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014007",
            "name": "Aicardi-Goutieres syndrome caused by mutation in Adar",
            "description": ""
        },
        {
            "id": "MONDO:0014007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014007",
            "name": "Aicardi-Goutieres syndrome type 6",
            "description": ""
        },
        {
            "id": "MONDO:0014007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014007",
            "name": "AGS6",
            "description": ""
        },
        {
            "id": "MONDO:0014367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014367",
            "name": "Aicardi-Goutieres syndrome 7",
            "description": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene."
        },
        {
            "id": "MONDO:0014367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014367",
            "name": "Aicardi-Goutieres syndrome 7",
            "description": ""
        },
        {
            "id": "MONDO:0014367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014367",
            "name": "Aicardi-Goutieres syndrome caused by mutation in IFIH1",
            "description": ""
        },
        {
            "id": "MONDO:0014367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014367",
            "name": "Aicardi-Goutieres syndrome type 7",
            "description": ""
        },
        {
            "id": "MONDO:0014367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014367",
            "name": "IFIH1 Aicardi-Goutieres syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014367",
            "name": "AGS7",
            "description": ""
        },
        {
            "id": "MIM:225750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/225750",
            "name": "Aicardi-Goutieres syndrome 1",
            "description": "Aicardi-Goutieres syndrome 1"
        },
        {
            "id": "MIM:610181",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610181",
            "name": "Aicardi-Goutieres syndrome 2",
            "description": "Aicardi-Goutieres syndrome 2"
        },
        {
            "id": "MIM:610329",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610329",
            "name": "Aicardi-Goutieres syndrome 3",
            "description": "Aicardi-Goutieres syndrome 3"
        },
        {
            "id": "MIM:610333",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610333",
            "name": "Aicardi-Goutieres syndrome 4",
            "description": "Aicardi-Goutieres syndrome 4"
        },
        {
            "id": "MIM:612952",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612952",
            "name": "Aicardi-Goutieres syndrome 5",
            "description": "Aicardi-Goutieres syndrome 5"
        },
        {
            "id": "MIM:615010",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615010",
            "name": "Aicardi-Goutieres syndrome 6",
            "description": "Aicardi-Goutieres syndrome 6"
        },
        {
            "id": "MIM:615846",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615846",
            "name": "Aicardi-Goutieres syndrome 7",
            "description": "Aicardi-Goutieres syndrome 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050629"
    ],
    "unlinked_id_list": []
}