{
  "id": 24659,
  "label": "type 1 interferonopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700264",
  "properties": {
    "xrefs": [
      "GARD:0021957",
      "MEDGEN:1712223",
      "Orphanet:477647",
      "UMLS:C5394397"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "Conditions in which increased type 1 interferon signaling leads to autoimmune and neurological disorders. These disorders are caused by variants in genes involved in nucleic acid metabolism, sensing, and the innate immune response."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 19503,
      "label": "autoinflammatory syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7203
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051000",
          "ICD10CM:M04-M04",
          "MEDGEN:855741",
          "MedDRA:10072220",
          "NANDO:2100156",
          "NCIT:C119050",
          "Orphanet:93665",
          "UMLS:C3890737"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease."
      },
      "child_count": 74,
      "reference_id": "MONDO:0019751"
    }
  ],
  "children": [
    {
      "id": 24651,
      "label": "TREX1-related type 1 interferonopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21247,
        24659
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026399"
        ],
        "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 TREX1 gene. Individuals with variants in TREX1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations."
      },
      "child_count": 6,
      "reference_id": "MONDO:0700256"
    },
    {
      "id": 24652,
      "label": "RNASEH2B-related type 1 interferonopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21247,
        24659
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026400"
        ],
        "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 RNASEH2B gene. Individuals with variants in RNASEH2B can present with a variety of phenotypes, including Aicardi-Goutieres syndrome."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700257"
    },
    {
      "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"
    },
    {
      "id": 24654,
      "label": "RNASEH2A-related type 1 interferonopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21247,
        24659
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026402"
        ],
        "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 RNASEH2A gene. Individuals with variants in RNASEH2A can present with a variety of phenotypes, including Aicardi-Goutieres syndrome."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700259"
    },
    {
      "id": 24655,
      "label": "SAMHD1-related type 1 interferonopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21247,
        24659
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026403"
        ],
        "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 SAMHD1 gene. Individuals with variants in SAMHD1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and chilblain lupus."
      },
      "child_count": 4,
      "reference_id": "MONDO:0700260"
    },
    {
      "id": 24656,
      "label": "ADAR-related type 1 interferonopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21247,
        24659
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026404"
        ],
        "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 ADAR gene. Individuals with variants in ADAR can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and dyschromatosis symmetrica hereditaria."
      },
      "child_count": 4,
      "reference_id": "MONDO:0700261"
    },
    {
      "id": 24657,
      "label": "IFIH1-related type 1 interferonopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21247,
        24659
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026405"
        ],
        "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 IFIH1 gene. Individuals with variants in IFIH1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and singleton-Merten syndrome."
      },
      "child_count": 4,
      "reference_id": "MONDO:0700262"
    },
    {
      "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"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 19503,
      "label": "autoinflammatory syndrome"
    }
  ]
}