{
  "id": 17132,
  "label": "overlapping connective tissue disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016663",
  "properties": {
    "xrefs": [
      "GARD:0020696",
      "MedDRA:10027754",
      "Orphanet:251312"
    ],
    "categories": [
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 5762,
      "label": "connective tissue disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:65",
          "EFO:1001986",
          "MEDGEN:1098",
          "MESH:D003240",
          "NANDO:2100172",
          "NCIT:C26729",
          "SCTID:105969002",
          "UMLS:C0009782"
        ],
        "synonyms": [
          "connective tissue disease",
          "connective tissue disease or disorder",
          "connective tissue diseases",
          "connective tissue disorder",
          "connective tissue disorders",
          "disease of connective tissue",
          "disease or disorder of connective tissue",
          "disease, connective tissue",
          "disorder of connective tissue",
          "primary disorder of connective tissue",
          "tissue disease, connective"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A disease involving the connective tissue."
      },
      "child_count": 16,
      "reference_id": "MONDO:0003900"
    },
    {
      "id": 8586,
      "label": "autoimmune disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:417",
          "EFO:0005809",
          "ICD9:279.4",
          "ICD9:279.49",
          "ICD9:720",
          "MEDGEN:2135",
          "MESH:D001327",
          "NCIT:C2889",
          "OBI:1110054",
          "OMIM:109100",
          "SCTID:85828009",
          "UMLS:C0004364"
        ],
        "synonyms": [
          "autoimmune disease",
          "autoimmune disease or disorder",
          "autoimmune disorder",
          "disease, autoimmune",
          "autoimmune hypersensitivity disease",
          "hypersensitivity reaction type II disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis)."
      },
      "child_count": 47,
      "reference_id": "MONDO:0007179"
    }
  ],
  "children": [
    {
      "id": 7465,
      "label": "mixed connective tissue disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7203,
        17132
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3492",
          "EFO:0007374",
          "GARD:0007051",
          "MEDGEN:10069",
          "MESH:D008947",
          "MedDRA:10027754",
          "NANDO:1200278",
          "NANDO:2200430",
          "NCIT:C84892",
          "NORD:1451",
          "Orphanet:809",
          "SCTID:398049005",
          "UMLS:C0026272",
          "icd11.foundation:891652224"
        ],
        "synonyms": [
          "MCTD",
          "sharp syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0005854"
    },
    {
      "id": 12536,
      "label": "MASS syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17132,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008489",
          "MEDGEN:346932",
          "MESH:C536030",
          "OMIM:604308",
          "Orphanet:99715",
          "UMLS:C1858556"
        ],
        "synonyms": [
          "MASS phenotype",
          "MASS syndrome",
          "Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings",
          "OCTD",
          "overlap connective tissue disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011431"
    }
  ],
  "roots": [
    {
      "id": 5762,
      "label": "connective tissue disorder"
    },
    {
      "id": 8586,
      "label": "autoimmune disease"
    }
  ]
}