{
  "id": 11138,
  "label": "familial primary pulmonary hypoplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009936",
  "properties": {
    "xrefs": [
      "GARD:0016591",
      "ICD9:748.5",
      "MEDGEN:141589",
      "OMIM:265430",
      "Orphanet:2257",
      "SCTID:277656005",
      "UMLS:C0456891",
      "icd11.foundation:1778475393"
    ],
    "synonyms": [
      "lung agenesis",
      "primary pulmonary hypoplasia",
      "pulmonary hypoplasia, primary"
    ],
    "categories": [
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6815,
      "label": "respiratory system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1579",
          "EFO:0000684",
          "ICD10CM:J00-J99",
          "ICD9:460-519",
          "ICD9:500-508",
          "ICD9:503",
          "ICD9:508",
          "ICD9:508.1",
          "ICD9:508.8",
          "ICD9:508.9",
          "ICD9:510-519",
          "ICD9:516",
          "ICD9:516.8",
          "ICD9:516.9",
          "ICD9:517",
          "ICD9:517.8",
          "ICD9:519",
          "ICD9:519.1",
          "ICD9:519.3",
          "ICD9:519.8",
          "ICD9:519.9",
          "ICD9:V12.60",
          "ICD9:V47.2",
          "MEDGEN:48421",
          "MESH:D012140",
          "NANDO:1100010",
          "NCIT:C26871",
          "SCTID:50043002",
          "UMLS:C0035204"
        ],
        "synonyms": [
          "disease of respiratory system",
          "disease or disorder of respiratory system",
          "disorder of respiratory system",
          "respiratory disease",
          "respiratory disorder",
          "respiratory system disease",
          "respiratory system disease or disorder",
          "respiratory system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma."
      },
      "child_count": 59,
      "reference_id": "MONDO:0005087"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6815,
      "label": "respiratory system disorder"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}