{
    "disease_id": "DOID:12120",
    "recommended_name": {
        "id": "DOID:12120",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:12120",
        "name": "pulmonary alveolar proteinosis",
        "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange."
    },
    "synonyms": [
        {
            "id": "MONDO:0024465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
            "name": "surfactant metabolism dysfunction, pulmonary, 2",
            "description": ""
        },
        {
            "id": "MONDO:0024465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
            "name": "surfactant metabolism dysfunction, pulmonary, 2; SMDP2",
            "description": ""
        },
        {
            "id": "MONDO:0024465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
            "name": "desquamative interstitial pneumonitis due to surfactant Protein C deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0024465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
            "name": "pulmonary alveolar proteinosis, congenital, 2",
            "description": ""
        },
        {
            "id": "MONDO:0024465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
            "name": "interstitial lung disease due to surfactant Protein C deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0024465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
            "name": "SMDP2",
            "description": ""
        },
        {
            "id": "MONDO:0010424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
            "name": "surfactant metabolism dysfunction, pulmonary, 4",
            "description": ""
        },
        {
            "id": "MONDO:0010424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
            "name": "Csf2Ra deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
            "name": "SMDP4",
            "description": ""
        },
        {
            "id": "MONDO:0010424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
            "name": "Pap due to Csf2Ra deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
            "name": "surfactant metabolism dysfunction, pulmonary, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0010424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
            "name": "surfactant metabolism dysfunction, pulmonary, 4",
            "description": ""
        },
        {
            "id": "MONDO:0010424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
            "name": "surfactant metabolism dysfunction, pulmonary, 4; SMDP4",
            "description": ""
        },
        {
            "id": "MONDO:0010424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
            "name": "pulmonary alveolar proteinosis, congenital, 4",
            "description": ""
        },
        {
            "id": "MONDO:0012582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
            "name": "interstitial lung disease due to ABCA3 deficiency",
            "description": "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."
        },
        {
            "id": "MONDO:0012582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
            "name": "SMDP3",
            "description": ""
        },
        {
            "id": "MONDO:0012582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
            "name": "interstitial lung disease due to ABCA3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
            "name": "surfactant metabolism dysfunction, pulmonary, 3; SMDP3",
            "description": ""
        },
        {
            "id": "MONDO:0012582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
            "name": "surfactant metabolism dysfunction, pulmonary, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
            "name": "pulmonary alveolar proteinosis, congenital, 3",
            "description": ""
        },
        {
            "id": "MONDO:0012582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
            "name": "surfactant metabolism dysfunction, pulmonary, 3",
            "description": ""
        },
        {
            "id": "MONDO:0012582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
            "name": "interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
            "name": "surfactant metabolism dysfunction, pulmonary, 5",
            "description": "Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene."
        },
        {
            "id": "MONDO:0013712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
            "name": "surfactant metabolism dysfunction, pulmonary, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0013712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
            "name": "Pap due to Csf2Rb deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
            "name": "surfactant metabolism dysfunction, pulmonary, 5",
            "description": ""
        },
        {
            "id": "MONDO:0013712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
            "name": "surfactant metabolism dysfunction, pulmonary, 5; SMDP5",
            "description": ""
        },
        {
            "id": "MONDO:0013712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
            "name": "hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB",
            "description": ""
        },
        {
            "id": "MONDO:0013712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
            "name": "CSF2RB hereditary pulmonary alveolar proteinosis",
            "description": ""
        },
        {
            "id": "MONDO:0013712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
            "name": "Csf2Rb deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
            "name": "pulmonary alveolar proteinosis 5",
            "description": ""
        },
        {
            "id": "MONDO:0013712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
            "name": "SMDP5",
            "description": ""
        },
        {
            "id": "MONDO:0009929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
            "name": "neonatal acute respiratory distress due to SP-B deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
            "name": "surfactant metabolism dysfunction, pulmonary, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
            "name": "pulmonary alveolar proteinosis, congenital, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
            "name": "interstitial lung disease due to surfactant Protein B deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
            "name": "interstitial lung disease, nonspecific, due to surfactant Protein B deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
            "name": "surfactant metabolism dysfunction, pulmonary, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
            "name": "neonatal acute respiratory distress due to surfactant protein B deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
            "name": "SMDP1",
            "description": ""
        },
        {
            "id": "MONDO:0009929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
            "name": "surfactant metabolism dysfunction, pulmonary, 1; SMDP1",
            "description": ""
        },
        {
            "id": "MONDO:0009929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
            "name": "pulmonary surfactant protein B, deficiency of",
            "description": ""
        },
        {
            "id": "MIM:610913",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610913",
            "name": "Pulmonary surfactant metabolism dysfunction 2",
            "description": "Pulmonary surfactant metabolism dysfunction 2"
        },
        {
            "id": "MIM:300770",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300770",
            "name": "Pulmonary surfactant metabolism dysfunction 4",
            "description": "Pulmonary surfactant metabolism dysfunction 4"
        },
        {
            "id": "MIM:610921",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610921",
            "name": "Pulmonary surfactant metabolism dysfunction 3",
            "description": "Pulmonary surfactant metabolism dysfunction 3"
        },
        {
            "id": "MIM:614370",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614370",
            "name": "Pulmonary surfactant metabolism dysfunction 5",
            "description": "Pulmonary surfactant metabolism dysfunction 5"
        },
        {
            "id": "MIM:265120",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/265120",
            "name": "Pulmonary surfactant metabolism dysfunction 1",
            "description": "Pulmonary surfactant metabolism dysfunction 1"
        }
    ]
}