{
  "id": 15212,
  "label": "severe early-onset pulmonary alveolar proteinosis due to MARS deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014206",
  "properties": {
    "xrefs": [
      "GARD:0017746",
      "MEDGEN:895551",
      "OMIM:615486",
      "Orphanet:440427",
      "UMLS:C4225400"
    ],
    "synonyms": [
      "PAP, Reunion island type",
      "hereditary pulmonary alveolar proteinosis with hepatic involvement",
      "interstitial lung and liver disease",
      "pulmonary alveolar proteinosis, Reunion island type",
      "ILLD",
      "infantile liver failure syndrome 2",
      "infantile liver failure syndrome 2, formerly",
      "pulmonary alveolar proteinosis, Reunion Island"
    ],
    "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"
    }
  ]
}