{
  "id": 24653,
  "label": "RNASEH2C-related type 1 interferonopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700258",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "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": 24659,
      "label": "type 1 interferonopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19503
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 9,
      "reference_id": "MONDO:0700264"
    }
  ],
  "children": [
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 24659,
      "label": "type 1 interferonopathy"
    }
  ]
}