{
  "id": 14733,
  "label": "surfactant metabolism dysfunction, pulmonary, 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013712",
  "properties": {
    "xrefs": [
      "GARD:0015793",
      "MEDGEN:482204",
      "OMIM:614370",
      "UMLS:C3280574"
    ],
    "synonyms": [
      "CSF2RB hereditary pulmonary alveolar proteinosis",
      "hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB",
      "surfactant metabolism dysfunction, pulmonary, 5",
      "surfactant metabolism dysfunction, pulmonary, type 5",
      "Csf2Rb deficiency",
      "Pap due to Csf2Rb deficiency",
      "SMDP5",
      "pulmonary alveolar proteinosis 5"
    ],
    "categories": [
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene."
  },
  "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"
    }
  ]
}