{
  "id": 14758,
  "label": "chilblain lupus 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013739",
  "properties": {
    "xrefs": [
      "GARD:0018494",
      "MEDGEN:482351",
      "OMIM:614415",
      "UMLS:C3280721"
    ],
    "synonyms": [
      "Chilblain lupus type 2",
      "SAMHD1 chilblain lupus",
      "chilblain lupus 2",
      "chilblain lupus caused by mutation in SAMHD1",
      "CHBL2"
    ],
    "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 SAMHD1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18767,
      "label": "familial chilblain lupus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19364,
        21247,
        23867,
        25666
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017874",
          "MEDGEN:1807766",
          "OMIMPS:610448",
          "Orphanet:481662",
          "UMLS:C5688224"
        ],
        "synonyms": [
          "hereditary Chilblain lupus",
          "hereditary chilblain lupus"
        ],
        "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": "An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 8,
      "reference_id": "MONDO:0018827"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18767,
      "label": "familial chilblain lupus"
    },
    {
      "id": 24655,
      "label": "SAMHD1-related type 1 interferonopathy"
    }
  ]
}