{
  "id": 9566,
  "label": "familial spontaneous pneumothorax",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008259",
  "properties": {
    "xrefs": [
      "DOID:0080218",
      "GARD:0004997",
      "MEDGEN:357445",
      "MESH:C566795",
      "OMIM:173600",
      "Orphanet:2903",
      "SCTID:715219001",
      "UMLS:C1868193",
      "icd11.foundation:319022944"
    ],
    "synonyms": [
      "Psp",
      "pneumothorax, primary spontaneous",
      "primary spontaneous pneumothorax",
      "spontaneous pneumothorax"
    ],
    "categories": [
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4219,
      "label": "pneumothorax",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4184
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1673",
          "HP:0002107",
          "ICD10WHO:J93",
          "ICD9:512.8",
          "MEDGEN:19365",
          "MESH:D011030",
          "NCIT:C38006",
          "SCTID:36118008",
          "UMLS:C0032326",
          "icd11.foundation:1946559257"
        ],
        "synonyms": [
          "pneumothorax",
          "pneumothorax (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Abnormal presence of air in the pleural cavity."
      },
      "child_count": 5,
      "reference_id": "MONDO:0002076"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4219,
      "label": "pneumothorax"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}