{
  "id": 21903,
  "label": "Aicardi-Goutieres syndrome 9",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0030362",
  "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."
  },
  "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": 24658,
      "label": "RNU7-1-related type 1 interferonopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21247,
        24659
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026406"
        ],
        "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 RNU7-1 gene. Individuals with variants in RNUF7-1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700263"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18799,
      "label": "Aicardi-Goutieres syndrome"
    },
    {
      "id": 24658,
      "label": "RNU7-1-related type 1 interferonopathy"
    }
  ]
}