{
  "id": 13627,
  "label": "hereditary pulmonary alveolar proteinosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012580",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 3655,
      "label": "pulmonary alveolar proteinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6971
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12120",
          "ICD9:516.0",
          "MEDGEN:1763046",
          "MESH:D011649",
          "NANDO:1200746",
          "NCIT:C85037",
          "SCTID:10501004",
          "UMLS:C5400698",
          "icd11.foundation:1869739196"
        ],
        "synonyms": [
          "PAP",
          "pulmonary alveolar proteinosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever."
      },
      "child_count": 3,
      "reference_id": "MONDO:0001437"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 11132,
      "label": "surfactant metabolism dysfunction, pulmonary, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13627,
        20092
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017126",
          "MEDGEN:368844",
          "MESH:C566882",
          "OMIM:265120",
          "Orphanet:217563",
          "UMLS:C1968602"
        ],
        "synonyms": [
          "SMDP1",
          "interstitial lung disease due to SP-B dysfunction",
          "interstitial lung disease due to surfactant Protein B deficiency",
          "neonatal acute respiratory distress due to SP-B deficiency",
          "neonatal acute respiratory distress due to surfactant protein B deficiency",
          "pulmonary alveolar proteinosis, congenital, 1",
          "surfactant metabolism dysfunction, pulmonary, 1",
          "surfactant metabolism dysfunction, pulmonary, type 1",
          "interstitial lung disease, nonspecific, due to surfactant Protein B deficiency",
          "pulmonary surfactant protein B, deficiency of"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009929"
    },
    {
      "id": 11584,
      "label": "surfactant metabolism dysfunction, pulmonary, 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13627
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015263",
          "MEDGEN:393858",
          "MESH:C567461",
          "OMIM:300770",
          "UMLS:C2677877"
        ],
        "synonyms": [
          "surfactant metabolism dysfunction, pulmonary, 4",
          "surfactant metabolism dysfunction, pulmonary, type 4",
          "Csf2Ra deficiency",
          "Pap due to Csf2Ra deficiency",
          "SMDP4",
          "pulmonary alveolar proteinosis, congenital, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010424"
    },
    {
      "id": 13629,
      "label": "interstitial lung disease due to ABCA3 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13627,
        22225
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012582"
    },
    {
      "id": 14733,
      "label": "surfactant metabolism dysfunction, pulmonary, 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13627
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015793",
          "MEDGEN:482204",
          "OMIM:614370",
          "UMLS:C3280574"
        ],
        "synonyms": [
          "CSF2RB hereditary pulmonary alveolar proteinosis",
          "hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB",
          "surfactant metabolism dysfunction, pulmonary, 5",
          "surfactant metabolism dysfunction, pulmonary, type 5",
          "Csf2Rb deficiency",
          "Pap due to Csf2Rb deficiency",
          "SMDP5",
          "pulmonary alveolar proteinosis 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013712"
    },
    {
      "id": 15212,
      "label": "severe early-onset pulmonary alveolar proteinosis due to MARS deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13627
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014206"
    },
    {
      "id": 16874,
      "label": "chronic respiratory distress with surfactant metabolism deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13627
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017127",
          "MEDGEN:1679491",
          "Orphanet:217566",
          "UMLS:C5190853"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016323"
    },
    {
      "id": 18605,
      "label": "SFTPC-related interstitial lung disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13627,
        22225
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017744",
          "Orphanet:440392"
        ],
        "synonyms": [
          "SFTPC-related ILD",
          "interstitial lung disease due to SP-C deficiency",
          "interstitial lung disease due to surfactant protein C deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018603"
    },
    {
      "id": 21421,
      "label": "surfactant metabolism dysfunction, pulmonary, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13627
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025399",
          "MEDGEN:410078",
          "MESH:C567048",
          "OMIM:610913",
          "UMLS:C1970470"
        ],
        "synonyms": [
          "SMDP2",
          "desquamative interstitial pneumonitis due to surfactant Protein C deficiency",
          "interstitial lung disease due to surfactant Protein C deficiency",
          "pulmonary alveolar proteinosis, congenital, 2",
          "surfactant metabolism dysfunction, pulmonary, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0024465"
    }
  ],
  "roots": [
    {
      "id": 3655,
      "label": "pulmonary alveolar proteinosis"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}