{
  "id": 13629,
  "label": "interstitial lung disease due to ABCA3 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012582",
  "properties": {
    "xrefs": [
      "GARD:0017745",
      "MEDGEN:410074",
      "MESH:C567046",
      "OMIM:610921",
      "Orphanet:440402",
      "UMLS:C1970456"
    ],
    "synonyms": [
      "interstitial lung disease due to ABCA3 deficiency",
      "interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency",
      "surfactant metabolism dysfunction, pulmonary, type 3",
      "SMDP3",
      "pulmonary alveolar proteinosis, congenital, 3",
      "surfactant metabolism dysfunction, pulmonary, 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea."
  },
  "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"
    },
    {
      "id": 22225,
      "label": "inherited interstitial lung disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16615
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027936",
          "OMIMPS:619611"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "An instance of interstitial lung disease that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 26,
      "reference_id": "MONDO:0031199"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 13627,
      "label": "hereditary pulmonary alveolar proteinosis"
    },
    {
      "id": 22225,
      "label": "inherited interstitial lung disease"
    }
  ]
}