{
  "id": 13520,
  "label": "Aicardi-Goutieres syndrome 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012471",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18799,
      "label": "Aicardi-Goutieres syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        7611,
        18952,
        21247,
        25666
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 50,
      "reference_id": "MONDO:0018866"
    },
    {
      "id": 24653,
      "label": "RNASEH2C-related type 1 interferonopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21247,
        24659
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026401"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2C gene. Individuals with variants in RNASEH2C can present with a variety of phenotypes, including Aicardi-Goutieres syndrome."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700258"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18799,
      "label": "Aicardi-Goutieres syndrome"
    },
    {
      "id": 24653,
      "label": "RNASEH2C-related type 1 interferonopathy"
    }
  ]
}