[
    {
        "title": "Surfactant protein C gene variation in the Finnish population -association with perinatal respiratory disease.",
        "journal": "Eur. J. Hum. Genet.",
        "date": "2004",
        "authors": "Lahti M, Marttila R, Hallman M",
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        "abstract": "",
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    {
        "title": "Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease.",
        "journal": "American journal of medical genetics. Part A",
        "date": "2004",
        "authors": "Tredano M, Griese M, Brasch F, Schumacher S, de Blic J, Marque S, Houdayer C, Elion J, Couderc R, Bahuau M",
        "reference": {
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        },
        "referenced_glycans": [],
        "referenced_proteins": [
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                "uniprot_canonical_ac": "P11686-1",
                "protein_name": "Surfactant protein C",
                "gene_name": "SFTPC",
                "tax_name": "Human"
            }
        ],
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            {
                "name": "Homo sapiens",
                "taxid": 9606,
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            }
        ],
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs34957318"
                    },
                    {
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                    },
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                    },
                    {
                        "id": "rs34957318",
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs34957318"
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                        "id": "15039969",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/15039969"
                    },
                    {
                        "id": "rs34957318",
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs34957318"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 167,
                "end_pos": 167,
                "sequence_org": "R",
                "sequence_mut": "Q",
                "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.",
                "chr_id": "8",
                "chr_pos": "22163947",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R167",
                "disease": [
                    {
                        "disease_id": "DOID:0060971",
                        "recommended_name": {
                            "id": "DOID:0060971",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060971",
                            "name": "interstitial lung disease 2",
                            "description": "An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22."
                        },
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0800497",
                                "name": "interstitial lung disease 2",
                                "description": "An interstitial lung disease in which the cause of the disease is a variation in the SFTPA2 gene."
                            },
                            {
                                "id": "MONDO:0800497",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0800497",
                                "name": "fibrocystic pulmonary dysplasia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0800497",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0800497",
                                "name": "fibrosing alveolitis, cryptogenic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0800497",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0800497",
                                "name": "idiopathic pulmonary fibrosis, familial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0800497",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0800497",
                                "name": "interstitial pneumonitis, usual",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0800497",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0800497",
                                "name": "pulmonary fibrosis, idiopathic",
                                "description": ""
                            },
                            {
                                "id": "MIM:178500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/178500",
                                "name": "Interstitial lung disease 2",
                                "description": "Interstitial lung disease 2"
                            }
                        ],
                        "unlinked_id_list": [],
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                                "database": "AGR",
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                            },
                            {
                                "id": "0060971",
                                "database": "AGR",
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                            },
                            {
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                    },
                    {
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                            "resource": "Disease Ontology",
                            "url": "https://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."
                        },
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                                "id": "MONDO:0009929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009929",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009929",
                                "resource": "MONDO",
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                                "description": ""
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009929",
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                                "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": "neonatal acute respiratory distress due to SP-B deficiency",
                                "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": "pulmonary alveolar proteinosis, congenital, 1",
                                "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": "surfactant metabolism dysfunction, pulmonary, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                                "name": "pulmonary surfactant protein B, deficiency of",
                                "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",
                                "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": "SMDP4",
                                "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": "interstitial lung disease due to ABCA3 deficiency",
                                "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: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": "SMDP3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012582",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                                "name": "surfactant metabolism dysfunction, pulmonary, 3",
                                "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": "CSF2RB hereditary pulmonary alveolar proteinosis",
                                "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": "surfactant metabolism dysfunction, pulmonary, 5",
                                "description": ""
                            },
                            {
                                "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": "SMDP5",
                                "description": ""
                            },
                            {
                                "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": "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": "interstitial lung disease 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": "surfactant metabolism dysfunction, pulmonary, 2",
                                "description": ""
                            },
                            {
                                "id": "MIM:265120",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/265120",
                                "name": "Pulmonary surfactant metabolism dysfunction 1",
                                "description": "Pulmonary surfactant metabolism dysfunction 1"
                            },
                            {
                                "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:610913",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/610913",
                                "name": "Pulmonary surfactant metabolism dysfunction 2",
                                "description": "Pulmonary surfactant metabolism dysfunction 2"
                            }
                        ],
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                                "id": "12120",
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                            },
                            {
                                "id": "12120",
                                "database": "AGR",
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                    {
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                        "id": "rs121917834",
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        "title": "Hydroxychloroquine and surfactant protein C deficiency.",
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                                "name": "surfactant metabolism dysfunction, pulmonary, 4",
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                            "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": [
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                                "id": "MONDO:0009929",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009929",
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                            {
                                "id": "MONDO:0009929",
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                                "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",
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                            {
                                "id": "MONDO:0009929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                                "name": "neonatal acute respiratory distress due to surfactant protein B deficiency",
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                            },
                            {
                                "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": "surfactant metabolism dysfunction, pulmonary, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                                "name": "surfactant metabolism dysfunction, pulmonary, type 1",
                                "description": ""
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                            {
                                "id": "MONDO:0009929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                                "name": "pulmonary surfactant protein B, deficiency of",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010424",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                                "name": "surfactant metabolism dysfunction, pulmonary, 4",
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                            },
                            {
                                "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, type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010424",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012582",
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                                "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",
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                            {
                                "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",
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                            },
                            {
                                "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",
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                            {
                                "id": "MONDO:0012582",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012582",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0013712",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0013712",
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                            },
                            {
                                "id": "MONDO:0013712",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0013712",
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                            {
                                "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, type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013712",
                                "resource": "MONDO",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0024465",
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                                "name": "Pulmonary surfactant metabolism dysfunction 1",
                                "description": "Pulmonary surfactant metabolism dysfunction 1"
                            },
                            {
                                "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:610913",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/610913",
                                "name": "Pulmonary surfactant metabolism dysfunction 2",
                                "description": "Pulmonary surfactant metabolism dysfunction 2"
                            }
                        ],
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                        "evidence": [
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                            },
                            {
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                    {
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                    {
                        "id": "15039969",
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                    {
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                    },
                    {
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                    }
                ],
                "glycoeffect": [],
                "start_pos": 73,
                "end_pos": 73,
                "sequence_org": "I",
                "sequence_mut": "T",
                "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/collectin.",
                "chr_id": "8",
                "chr_pos": "22163096",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I73",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                                "name": "surfactant metabolism dysfunction, pulmonary, 4",
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                            {
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                                "name": "interstitial lung disease due to ABCA3 deficiency",
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                            {
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                                "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",
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                            {
                                "id": "MONDO:0012582",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012582",
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                            {
                                "id": "MONDO:0012582",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012582",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                                "name": "surfactant metabolism dysfunction, pulmonary, 3",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                                "name": "surfactant metabolism dysfunction, pulmonary, 5",
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                            },
                            {
                                "id": "MONDO:0013712",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013712",
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                                "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": "surfactant metabolism dysfunction, pulmonary, 5",
                                "description": ""
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                            {
                                "id": "MONDO:0013712",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                                "name": "surfactant metabolism dysfunction, pulmonary, type 5",
                                "description": ""
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                            {
                                "id": "MONDO:0013712",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0024465",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                                "name": "surfactant metabolism dysfunction, pulmonary, 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0024465",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0024465",
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                            {
                                "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": "interstitial lung disease 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",
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                            {
                                "id": "MONDO:0024465",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                                "name": "surfactant metabolism dysfunction, pulmonary, 2",
                                "description": ""
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                            {
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                                "name": "Pulmonary surfactant metabolism dysfunction 1",
                                "description": "Pulmonary surfactant metabolism dysfunction 1"
                            },
                            {
                                "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:610913",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/610913",
                                "name": "Pulmonary surfactant metabolism dysfunction 2",
                                "description": "Pulmonary surfactant metabolism dysfunction 2"
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        "title": "Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults.",
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        "title": "Familial fibrocystic pulmonary dysplasia: a new case in a known affected family.",
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                                "description": "Pulmonary surfactant metabolism dysfunction 3"
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                                "url": "https://www.omim.org/entry/614370",
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                                "description": "Pulmonary surfactant metabolism dysfunction 5"
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