{
  "id": 11131,
  "label": "pulmonary alveolar microlithiasis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009928",
  "properties": {
    "xrefs": [
      "DOID:12117",
      "GARD:0011894",
      "ICD10CM:J84.02",
      "ICD9:516.2",
      "MEDGEN:56374",
      "MESH:C562405",
      "MedDRA:10037315",
      "NANDO:2200202",
      "OMIM:265100",
      "Orphanet:60025",
      "SCTID:87153008",
      "UMLS:C0155912",
      "icd11.foundation:1220010076"
    ],
    "synonyms": [
      "pulmonary alveolar microlithiasis"
    ],
    "categories": [
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 6971,
      "label": "lung disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2809
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:850",
          "EFO:0003818",
          "ICD9:518.89",
          "MEDGEN:7399",
          "MESH:D008171",
          "NCIT:C3198",
          "SCTID:19829001",
          "UMLS:C0024115"
        ],
        "synonyms": [
          "disease of lung",
          "disease or disorder of lung",
          "disorder of lung",
          "lung disease",
          "lung disease or disorder",
          "lung disorder",
          "lung disorders",
          "pulmonary disease",
          "pulmonary diseases",
          "pulmonary disorder",
          "pulmonary disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A disease involving the lung."
      },
      "child_count": 33,
      "reference_id": "MONDO:0005275"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 6971,
      "label": "lung disorder"
    }
  ]
}