{
  "id": 18767,
  "label": "familial chilblain lupus",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018827",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 19364,
      "label": "chilblain lupus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3017,
        16381,
        19142
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060386",
          "GARD:0019130",
          "MEDGEN:1632142",
          "MedDRA:10025141",
          "Orphanet:90280",
          "UMLS:C4551515"
        ],
        "synonyms": [
          "CHLE",
          "Hutchinson lupus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative."
      },
      "child_count": 3,
      "reference_id": "MONDO:0019557"
    },
    {
      "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": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "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"
    },
    {
      "id": 14758,
      "label": "chilblain lupus 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18767,
        24655
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013739"
    }
  ],
  "roots": [
    {
      "id": 19364,
      "label": "chilblain lupus"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    },
    {
      "id": 25666,
      "label": "type 1 interferonopathy of childhood"
    }
  ]
}