{
  "id": 24708,
  "label": "TREX1-related autosomal dominant Aicardi-Goutieres syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700333",
  "properties": {
    "xrefs": [
      "GARD:0028014"
    ],
    "synonyms": [
      "TREX1 deficiency, Aicardi-Goutieres syndrome 1 (AGS1), autosomal dominant",
      "TREX1-related autosomal dominant 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": "Autosomal dominant form of Aicardi-Goutieres syndrome 1."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10408,
      "label": "Aicardi-Goutieres syndrome 1"
    }
  ]
}