{
  "id": 24651,
  "label": "TREX1-related type 1 interferonopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700256",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 9923,
      "label": "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4419,
        19000,
        24651,
        25666
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111567",
          "GARD:0001217",
          "MEDGEN:348124",
          "MESH:C566007",
          "NORD:1910",
          "OMIM:192315",
          "Orphanet:247691",
          "SCTID:720854004",
          "SCTID:721141004",
          "UMLS:C1860518",
          "icd11.foundation:554838792"
        ],
        "synonyms": [
          "RVCL",
          "RVCL-S",
          "hereditary vascular retinopathy",
          "retinal vasculopathy and cerebral leukoencephalopathy",
          "vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations",
          "ADRVCL",
          "CRV",
          "HVR",
          "autosomal dominant retinal vasculopathy with cerebral leukodystrophy",
          "cerebroretinal vasculopathy",
          "cerebroretinal vasculopathy, hereditary",
          "grand Kaine fulling syndrome",
          "grand-Kaine-fulling syndrome",
          "retinal vasculopathy with cerebral leukodystrophy",
          "retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena",
          "vasculopathy, retinal, with cerebral leukodystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008641"
    },
    {
      "id": 10408,
      "label": "Aicardi-Goutieres syndrome 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18799,
        24651
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015167",
          "MEDGEN:162912",
          "NCIT:C165501",
          "OMIM:225750",
          "UMLS:C0796126"
        ],
        "synonyms": [
          "Aicardi-Goutieres syndrome 1",
          "Aicardi-Goutieres syndrome 1, dominant and recessive",
          "Aicardi-Goutieres syndrome caused by mutation in TREX1",
          "Aicardi-Goutieres syndrome type 1",
          "TREX1 Aicardi-Goutieres syndrome",
          "AGS1",
          "Ags",
          "Aicardi-Goutieres syndrome 1, autosomal dominant",
          "Cree encephalitis",
          "Pseudotoxoplasmosis syndrome",
          "encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis"
        ],
        "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 TREX1 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009165"
    },
    {
      "id": 13549,
      "label": "chilblain lupus 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18767,
        24651
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018493",
          "MEDGEN:9822",
          "OMIM:610448",
          "UMLS:C0024145"
        ],
        "synonyms": [
          "chilblain lupus",
          "TREX1 chilblain lupus",
          "chilblain lupus 1",
          "chilblain lupus caused by mutation in TREX1",
          "chilblain lupus type 1",
          "CHBL1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012500"
    }
  ],
  "roots": [
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 24659,
      "label": "type 1 interferonopathy"
    }
  ]
}