{
  "id": 24658,
  "label": "RNU7-1-related type 1 interferonopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700263",
  "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."
  },
  "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": 21903,
      "label": "Aicardi-Goutieres syndrome 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18799,
        24658
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030362"
    }
  ],
  "roots": [
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 24659,
      "label": "type 1 interferonopathy"
    }
  ]
}