{
  "id": 20223,
  "label": "pulmonary alveolar proteinosis with hypogammaglobulinemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020840",
  "properties": {
    "xrefs": [
      "DOID:0061070",
      "GARD:0022313",
      "MEDGEN:1648298",
      "MEDGEN:1810375",
      "OMIM:618042",
      "Orphanet:572428",
      "UMLS:C4747984",
      "UMLS:C5680364"
    ],
    "synonyms": [
      "OAS1 deficiency",
      "OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia",
      "PAPHG",
      "immunodeficiency (due to OAS1 gain-of-function variant) with pulmonary alveolar proteinosis and hypogammaglobulinemia",
      "infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia",
      "pulmonary alveolar proteinosis with hypogammaglobulinemia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "A primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Affected individuals may have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood; hematopoietic stem cell transplantation (HSCT) is curative. The pathogenesis may be related to abnormal function of alveolar macrophages, resulting in decreased catabolism of surfactant. The disorder results from a gain-of-function effect that particularly affects B cells and monocytes."
  },
  "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": 6815,
      "label": "respiratory system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1579",
          "EFO:0000684",
          "ICD10CM:J00-J99",
          "ICD9:460-519",
          "ICD9:500-508",
          "ICD9:503",
          "ICD9:508",
          "ICD9:508.1",
          "ICD9:508.8",
          "ICD9:508.9",
          "ICD9:510-519",
          "ICD9:516",
          "ICD9:516.8",
          "ICD9:516.9",
          "ICD9:517",
          "ICD9:517.8",
          "ICD9:519",
          "ICD9:519.1",
          "ICD9:519.3",
          "ICD9:519.8",
          "ICD9:519.9",
          "ICD9:V12.60",
          "ICD9:V47.2",
          "MEDGEN:48421",
          "MESH:D012140",
          "NANDO:1100010",
          "NCIT:C26871",
          "SCTID:50043002",
          "UMLS:C0035204"
        ],
        "synonyms": [
          "disease of respiratory system",
          "disease or disorder of respiratory system",
          "disorder of respiratory system",
          "respiratory disease",
          "respiratory disorder",
          "respiratory system disease",
          "respiratory system disease or disorder",
          "respiratory system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma."
      },
      "child_count": 59,
      "reference_id": "MONDO:0005087"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 6815,
      "label": "respiratory system disorder"
    }
  ]
}