{
  "id": 11584,
  "label": "surfactant metabolism dysfunction, pulmonary, 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010424",
  "properties": {
    "xrefs": [
      "GARD:0015263",
      "MEDGEN:393858",
      "MESH:C567461",
      "OMIM:300770",
      "UMLS:C2677877"
    ],
    "synonyms": [
      "surfactant metabolism dysfunction, pulmonary, 4",
      "surfactant metabolism dysfunction, pulmonary, type 4",
      "Csf2Ra deficiency",
      "Pap due to Csf2Ra deficiency",
      "SMDP4",
      "pulmonary alveolar proteinosis, congenital, 4"
    ],
    "categories": [
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 13627,
      "label": "hereditary pulmonary alveolar proteinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3655,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004582",
          "MEDGEN:777976",
          "MESH:C535832",
          "NANDO:1200746",
          "NANDO:1200750",
          "NANDO:2200200",
          "OMIMPS:265120",
          "Orphanet:264675",
          "SCTID:707442002",
          "UMLS:C3711368"
        ],
        "synonyms": [
          "congenital PAP",
          "congenital pulmonary alveolar proteinosis",
          "hereditary pulmonary alveolar proteinosis",
          "inborn error of pulmonary surfactant metabolism",
          "inborn error of surfactant metabolism",
          "pulmonary alveolar proteinosis, congenital",
          "sufactant metabolism dysfunction, pulmonary"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure."
      },
      "child_count": 16,
      "reference_id": "MONDO:0012580"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 13627,
      "label": "hereditary pulmonary alveolar proteinosis"
    }
  ]
}