{
  "id": 18799,
  "label": "Aicardi-Goutieres syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018866",
  "properties": {
    "xrefs": [
      "DOID:0050629",
      "GARD:0000575",
      "ICD9:333.0",
      "MEDGEN:97953",
      "MESH:C535607",
      "NANDO:1200996",
      "NANDO:2100244",
      "NANDO:2200893",
      "NORD:111728",
      "OMIMPS:225750",
      "Orphanet:51",
      "SCTID:230312006",
      "UMLS:C0393591"
    ],
    "synonyms": [
      "Aicardi Goutieres syndrome",
      "Aicardi-Goutières Syndrome",
      "Cree encephalitis",
      "encephalopathy with basal ganglia calcification",
      "encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid",
      "AGS",
      "Aicardi-Goutières syndrome",
      "encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis",
      "pseudotoxoplasmosis syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 5658,
      "label": "inborn error of immunity",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:612",
          "GARD:0019813",
          "MEDGEN:585013",
          "MESH:D007153",
          "NANDO:1200320",
          "NANDO:2100204",
          "Orphanet:101997",
          "SCTID:58606001",
          "UMLS:C0398686"
        ],
        "synonyms": [
          "IEI",
          "inborn errors of immunity",
          "primary immunodeficiency disease",
          "antibody deficiency syndrome",
          "antibody deficiency syndromes",
          "deficiency syndrome, antibody",
          "deficiency syndrome, immunologic",
          "deficiency syndrome, immunological",
          "deficiency syndromes, antibody",
          "deficiency syndromes, immunologic",
          "deficiency syndromes, immunological",
          "immune deficiency disorder",
          "immunodeficiency syndrome",
          "immunologic deficiency syndrome",
          "immunological deficiency syndrome",
          "immunological deficiency syndromes",
          "primary immunodeficiency",
          "syndrome, antibody deficiency",
          "syndrome, immunologic deficiency",
          "syndrome, immunological deficiency",
          "syndromes, antibody deficiency",
          "syndromes, immunologic deficiency",
          "syndromes, immunological deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder in which the immune system is unable to mount an adequate immune response."
      },
      "child_count": 40,
      "reference_id": "MONDO:0003778"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 18952,
      "label": "leukodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050987",
          "DOID:0060786",
          "DOID:10579",
          "GARD:0006895",
          "ICD9:330.0",
          "MEDGEN:6070",
          "MedDRA:10024381",
          "NANDO:1200575",
          "NANDO:2200836",
          "NCIT:C61253",
          "NORD:1367",
          "OMIMPS:312080",
          "Orphanet:68356",
          "SCTID:192781003",
          "UMLS:C0023520",
          "icd11.foundation:468040251"
        ],
        "synonyms": [
          "hypomyelinating leukodystrophy",
          "hypomyelinating leukoencephalopathy",
          "leukodystrophy, hypomyelinating"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems."
      },
      "child_count": 65,
      "reference_id": "MONDO:0019046"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    },
    {
      "id": 25666,
      "label": "type 1 interferonopathy of childhood",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24659,
        25593
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021986",
          "MEDGEN:1843010",
          "Orphanet:481671",
          "UMLS:C5681250"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A type 1 interferonopathy that occurs during childhood."
      },
      "child_count": 24,
      "reference_id": "MONDO:0957408"
    }
  ],
  "children": [
    {
      "id": 8652,
      "label": "basal ganglia calcification, idiopathic, childhood-onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10207,
        18799,
        24405
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009598",
          "MEDGEN:396262",
          "MESH:C536276",
          "OMIM:114100",
          "UMLS:C1861967"
        ],
        "synonyms": [
          "basal ganglia calcification, idiopathic, childhood-onset",
          "IBGC childhood onset",
          "IBGC, childhood-onset",
          "bilateral striopallidodentate calcinosis childhood-onset",
          "cerebral calcification nonarteriosclerotic idiopathic childhood-onset",
          "cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset",
          "idiopathic basal ganglia calcification childhood-onset",
          "striopallidodentate calcinosis, bilateral, childhood-onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007247"
    },
    {
      "id": 10408,
      "label": "Aicardi-Goutieres syndrome 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18799,
        24651
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015167",
          "MEDGEN:162912",
          "NCIT:C165501",
          "OMIM:225750",
          "UMLS:C0796126"
        ],
        "synonyms": [
          "Aicardi-Goutieres syndrome 1",
          "Aicardi-Goutieres syndrome 1, dominant and recessive",
          "Aicardi-Goutieres syndrome caused by mutation in TREX1",
          "Aicardi-Goutieres syndrome type 1",
          "TREX1 Aicardi-Goutieres syndrome",
          "AGS1",
          "Ags",
          "Aicardi-Goutieres syndrome 1, autosomal dominant",
          "Cree encephalitis",
          "Pseudotoxoplasmosis syndrome",
          "encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009165"
    },
    {
      "id": 13479,
      "label": "Aicardi-Goutieres syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18799,
        24652
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015472",
          "MEDGEN:483677",
          "NANDO:2200894",
          "NCIT:C165673",
          "OMIM:610181",
          "UMLS:C3489724"
        ],
        "synonyms": [
          "Aicardi-Goutieres syndrome 2",
          "Aicardi-Goutieres syndrome caused by mutation in RNASEH2B",
          "Aicardi-Goutieres syndrome type 2",
          "RNASEH2B Aicardi-Goutieres syndrome",
          "AGS2",
          "RNASEH2B-related Aicardi-Goutieres syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012429"
    },
    {
      "id": 13520,
      "label": "Aicardi-Goutieres syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18799,
        24653
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015479",
          "MEDGEN:324389",
          "MESH:C563683",
          "NANDO:2200895",
          "OMIM:610329",
          "UMLS:C1835916"
        ],
        "synonyms": [
          "Aicardi-Goutieres syndrome 3",
          "Aicardi-Goutieres syndrome caused by mutation in RNASEH2C",
          "Aicardi-Goutieres syndrome type 3",
          "RNASEH2C Aicardi-Goutieres syndrome",
          "AGS3",
          "RNASEH2C -related Aicardi-Goutieres syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012471"
    },
    {
      "id": 13521,
      "label": "Aicardi-Goutieres syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18799,
        24654
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015480",
          "MEDGEN:332084",
          "MESH:C563681",
          "OMIM:610333",
          "UMLS:C1835912"
        ],
        "synonyms": [
          "Aicardi-Goutieres syndrome 4",
          "Aicardi-Goutieres syndrome caused by mutation in RNASEH2A",
          "Aicardi-Goutieres syndrome type 4",
          "RNASEH2A Aicardi-Goutieres syndrome",
          "AGS4",
          "RNASEH2A-related Aicardi-Goutieres syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012472"
    },
    {
      "id": 14097,
      "label": "Aicardi-Goutieres syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18799,
        24655
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010151",
          "MEDGEN:413116",
          "MESH:C535608",
          "NANDO:2200897",
          "NCIT:C168564",
          "OMIM:612952",
          "UMLS:C2749659"
        ],
        "synonyms": [
          "Aicardi-Goutieres syndrome 5",
          "Aicardi-Goutieres syndrome caused by mutation in SAMHD1",
          "Aicardi-Goutieres syndrome type 5",
          "SAMHD1 Aicardi-Goutieres syndrome",
          "AGS5",
          "SAMHD1-related Aicardi-Goutieres syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013059"
    },
    {
      "id": 15017,
      "label": "Aicardi-Goutieres syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18799,
        24656
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015894",
          "MEDGEN:761287",
          "NANDO:2200898",
          "OMIM:615010",
          "UMLS:C3539013"
        ],
        "synonyms": [
          "ADAR Aicardi-Goutieres syndrome",
          "Adar Aicardi-Goutieres syndrome",
          "Aicardi-Goutieres syndrome 6",
          "Aicardi-Goutieres syndrome caused by mutation in ADAR",
          "Aicardi-Goutieres syndrome caused by mutation in Adar",
          "Aicardi-Goutieres syndrome type 6",
          "AGS6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014007"
    },
    {
      "id": 15369,
      "label": "Aicardi-Goutieres syndrome 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18799,
        24657
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016021",
          "MEDGEN:854829",
          "NCIT:C168585",
          "OMIM:615846",
          "UMLS:C3888244"
        ],
        "synonyms": [
          "Aicardi-Goutieres syndrome 7",
          "Aicardi-Goutieres syndrome caused by mutation in IFIH1",
          "Aicardi-Goutieres syndrome type 7",
          "IFIH1 Aicardi-Goutieres syndrome",
          "AGS7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014367"
    },
    {
      "id": 21902,
      "label": "Aicardi-Goutieres syndrome 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025552",
          "MEDGEN:1790409",
          "OMIM:619486",
          "UMLS:C5551352"
        ],
        "synonyms": [
          "AGS8",
          "Aicardi-Goutieres syndrome 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Brain imaging shows diffusely abnormal white matter, severe cerebral atrophy, and intracranial calcification."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030361"
    },
    {
      "id": 21903,
      "label": "Aicardi-Goutieres syndrome 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18799,
        24658
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025553",
          "MEDGEN:1794176",
          "OMIM:619487",
          "UMLS:C5561966"
        ],
        "synonyms": [
          "AGS9",
          "Aicardi-Goutieres syndrome 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030362"
    }
  ],
  "roots": [
    {
      "id": 5658,
      "label": "inborn error of immunity"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 18952,
      "label": "leukodystrophy"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 25666,
      "label": "type 1 interferonopathy of childhood"
    }
  ]
}