{
  "id": 9248,
  "label": "systemic lupus erythematosus",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007915",
  "properties": {
    "xrefs": [
      "DOID:9074",
      "HP:0002725",
      "ICD10CM:M32",
      "ICD10WHO:M32",
      "ICD9:710.0",
      "MEDGEN:6146",
      "MESH:D008180",
      "NANDO:1200272",
      "NANDO:2200416",
      "NCIT:C3201",
      "NORD:1380",
      "OMIM:152700",
      "OMIMPS:601744",
      "Orphanet:536",
      "SCTID:55464009",
      "UMLS:C0024141",
      "icd11.foundation:749596428"
    ],
    "synonyms": [
      "Lupus",
      "SLE",
      "SLE - lupus erythematosus, systemic",
      "disseminated lupus erythematosus",
      "lupus erythematosus, systemic",
      "systemic lupus erythematosus",
      "systemic lupus erythematosus (disease)",
      "systemic lupus erythematosus susceptibility to"
    ],
    "categories": [
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 6454,
      "label": "lupus erythematosus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7203,
        8586
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8857",
          "ICD10CM:L93",
          "ICD10WHO:L93",
          "ICD9:695.4",
          "MEDGEN:98043",
          "NCIT:C27153",
          "SCTID:200936003",
          "UMLS:C0409974",
          "icd11.foundation:1443317238"
        ],
        "synonyms": [
          "lupus",
          "lupus erythematosus"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus."
      },
      "child_count": 6,
      "reference_id": "MONDO:0004670"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 14761,
      "label": "autosomal systemic lupus erythematosus type 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9248
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017368",
          "MEDGEN:482372",
          "OMIM:614420",
          "Orphanet:300345",
          "UMLS:C3280742"
        ],
        "synonyms": [
          "SLEB16",
          "systemic lupus erythematosus 16",
          "systemic lupus erythematosus related to DNASE1L3",
          "systemic lupus erythematosus type 16"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013743"
    },
    {
      "id": 18443,
      "label": "neonatal lupus erythematosus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9248,
        18439
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0004537",
          "GARD:0021647",
          "MEDGEN:98372",
          "MESH:C536397",
          "NCIT:C99236",
          "NORD:1495",
          "Orphanet:398124",
          "SCTID:95609003",
          "UMLS:C0409979",
          "icd11.foundation:213855225"
        ],
        "synonyms": [
          "Neonatal Lupus",
          "congenital lupus",
          "congenital lupus erythematosus",
          "neonatal SLE",
          "neonatal lupus",
          "neonatal lupus syndrome",
          "neonatal systemic lupus erythematosus"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018360"
    },
    {
      "id": 19483,
      "label": "pediatric systemic lupus erythematosus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9248
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019219",
          "MEDGEN:698153",
          "Orphanet:93552",
          "UMLS:C1274834"
        ],
        "synonyms": [
          "SLE, paediatric onset",
          "SLE, pediatric onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019725"
    },
    {
      "id": 23269,
      "label": "central nervous system lupus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2996,
        9248,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025875",
          "MEDGEN:156265",
          "MESH:D020945",
          "NCIT:C116919",
          "UMLS:C0752332"
        ],
        "synonyms": [
          "CNS lupus",
          "central nervous system lupus",
          "Meningoencephalitides, lupus",
          "central nervous system lupus vasculitis",
          "central nervous system systemic lupus Erythematosis",
          "lupus Meningoencephalitides",
          "lupus meningoencephalitis",
          "meningoencephalitis, lupus",
          "neuropsychiatric systemic lupus erythematosus",
          "systemic lupus Erythematosis, central nervous system"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features."
      },
      "child_count": 0,
      "reference_id": "MONDO:0043985"
    },
    {
      "id": 23284,
      "label": "bullous systemic lupus erythematosus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6978,
        9248
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025879",
          "MEDGEN:592738",
          "NCIT:C117104",
          "Orphanet:46489",
          "SCTID:239889005",
          "UMLS:C0409977"
        ],
        "synonyms": [
          "BSLE",
          "bullous systemic lupus erythematosus"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044113"
    },
    {
      "id": 24703,
      "label": "systemic lupus erythematosus related to C4A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9248
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any systemic lupus erythematosus in which the cause of the disease is a variation in the C4A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700323"
    },
    {
      "id": 25281,
      "label": "systemic lupus erythematosus 17",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9248
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026655",
          "MEDGEN:1804329",
          "OMIM:301080",
          "UMLS:C5676884"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any systemic lupus erythematosus in which the cause of the disease is a variation in the TLR7 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0859083"
    },
    {
      "id": 29337,
      "label": "systemic lupus erythematosus related to C1QA",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9248
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028176"
        ],
        "synonyms": [
          "systemic lupus erythematosus related to C1QA"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any systemic lupus erythematosus in which the cause of the disease is a variation in the C1QA gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:1060174"
    },
    {
      "id": 29338,
      "label": "systemic lupus erythematosus related to C1S",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9248
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028177"
        ],
        "synonyms": [
          "systemic lupus erythematosus related to C1S"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any systemic lupus erythematosus in which the cause of the disease is a variation in the C1S gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:1060176"
    },
    {
      "id": 29346,
      "label": "systemic lupus erythematosus 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9248
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028184",
          "OMIM:621369"
        ],
        "synonyms": [
          "SLEB18",
          "systemic lupus erythematosus related to PLD4"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any systemic lupus erythematosus in which the cause of the disease is a variation in the PLD4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:1060185"
    }
  ],
  "roots": [
    {
      "id": 6454,
      "label": "lupus erythematosus"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    }
  ]
}