{
  "id": 24841,
  "label": "congenital emphysematous lung disease due to Filamin A loss-of-function variant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800135",
  "properties": {
    "xrefs": [
      "GARD:0026451"
    ],
    "categories": [
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "Any interstitial lung disease specific to childhood caused by a loss-of-function variation in the FLNA gene. Female children are reported more often. Rare male patients with loss-of-function FLNA mutation-associated lung disease with residual protein function can survive into infancy with a severe form of the phenotype."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17416,
      "label": "interstitial lung disease specific to childhood",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16615
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842412",
          "Orphanet:264656",
          "SCTID:328661000119108",
          "UMLS:C5679752"
        ],
        "synonyms": [
          "ILD specific to childhood",
          "chILD",
          "chILD syndrome",
          "childhood interstitial lung disease",
          "interstitial lung disease of childhood",
          "paediatric interstitial lung disease",
          "pediatric interstitial lung disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A interstitial lung disease that occurs during childhood."
      },
      "child_count": 5,
      "reference_id": "MONDO:0017014"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17416,
      "label": "interstitial lung disease specific to childhood"
    }
  ]
}