{
    "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0800497",
            "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060971"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060971",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060971",
            "categories": []
        },
        {
            "id": "MONDO:0800497",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800497",
            "categories": []
        },
        {
            "id": "MIM:178500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/178500",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "E9Q5I3-1",
            "uniprot_ac": "E9Q5I3",
            "uniprot_id": "E9Q5I3_MOUSE",
            "refseq_ac": "NP_083077",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mucin-2",
                    "type": "recommended"
                },
                {
                    "name": "mucin-5B precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Muc5b",
                    "type": "recommended"
                },
                {
                    "name": "2300002I04Rik",
                    "type": "synonym"
                },
                {
                    "name": "A130042M24",
                    "type": "synonym"
                },
                {
                    "name": "MUC5",
                    "type": "synonym"
                },
                {
                    "name": "MUC9",
                    "type": "synonym"
                },
                {
                    "name": "Muc5b",
                    "type": "synonym"
                },
                {
                    "name": "mucin 5b",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q5I3-1",
            "evidence": [
                {
                    "id": "0060971",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060971"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35242-1",
            "uniprot_ac": "P35242",
            "uniprot_id": "SFTPA_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pulmonary surfactant-associated protein A",
                    "type": "recommended"
                },
                {
                    "name": "PSAP",
                    "type": "synonym"
                },
                {
                    "name": "PSP-A",
                    "type": "synonym"
                },
                {
                    "name": "SP-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sftpa1",
                    "type": "recommended"
                },
                {
                    "name": "Sftp-1",
                    "type": "synonym"
                },
                {
                    "name": "Sftp1",
                    "type": "synonym"
                },
                {
                    "name": "Sftpa",
                    "type": "synonym"
                }
            ],
            "record_id": "P35242-1",
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                    "id": "0060971",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060971"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IWL1-1",
            "uniprot_ac": "Q8IWL1",
            "uniprot_id": "SFPA2_HUMAN",
            "refseq_ac": "NP_001092138",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Pulmonary surfactant-associated protein A2",
                    "type": "recommended"
                },
                {
                    "name": "35 kDa pulmonary surfactant-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Alveolar proteinosis protein",
                    "type": "synonym"
                },
                {
                    "name": "Collectin-5",
                    "type": "synonym"
                },
                {
                    "name": "PSP-A",
                    "type": "synonym"
                },
                {
                    "name": "PSPA",
                    "type": "synonym"
                },
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                    "name": "SP-A2",
                    "type": "synonym"
                },
                {
                    "name": "SP-A",
                    "type": "synonym"
                },
                {
                    "name": "alveolar proteinosis protein",
                    "type": "synonym"
                },
                {
                    "name": "collectin 5",
                    "type": "synonym"
                },
                {
                    "name": "pulmonary surfactant-associated protein A2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "pulmonary surfactant-associated protein A2",
                    "type": "synonym"
                },
                {
                    "name": "surfactant, pulmonary-associated protein A2A",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "SFTPA2",
                    "type": "recommended"
                },
                {
                    "name": "COLEC5",
                    "type": "synonym"
                },
                {
                    "name": "ILD2",
                    "type": "synonym"
                },
                {
                    "name": "PSAP",
                    "type": "synonym"
                },
                {
                    "name": "PSP-A",
                    "type": "synonym"
                },
                {
                    "name": "PSPA",
                    "type": "synonym"
                },
                {
                    "name": "SFTP1",
                    "type": "synonym"
                },
                {
                    "name": "SFTPA2B",
                    "type": "synonym"
                },
                {
                    "name": "SFTPA2",
                    "type": "synonym"
                },
                {
                    "name": "SFTPA",
                    "type": "synonym"
                },
                {
                    "name": "SP-2A",
                    "type": "synonym"
                },
                {
                    "name": "SP-A",
                    "type": "synonym"
                },
                {
                    "name": "SPA2",
                    "type": "synonym"
                },
                {
                    "name": "SPAII",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IWL1-1",
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                    "id": "178500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/178500"
                },
                {
                    "id": "0060971",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060971"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HC84-1",
            "uniprot_ac": "Q9HC84",
            "uniprot_id": "MUC5B_HUMAN",
            "refseq_ac": "NP_002449",
            "glycoprotein": "yes",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
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                }
            ],
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                {
                    "name": "Mucin-5B",
                    "type": "recommended"
                },
                {
                    "name": "Cervical mucin",
                    "type": "synonym"
                },
                {
                    "name": "High molecular weight salivary mucin MG1",
                    "type": "synonym"
                },
                {
                    "name": "MUC-5B",
                    "type": "synonym"
                },
                {
                    "name": "Mucin-5 subtype B, tracheobronchial",
                    "type": "synonym"
                },
                {
                    "name": "Sublingual gland mucin",
                    "type": "synonym"
                },
                {
                    "name": "cervical mucin MUC5B",
                    "type": "synonym"
                },
                {
                    "name": "high molecular weight salivary mucin MG1",
                    "type": "synonym"
                },
                {
                    "name": "mucin 5, subtype B, tracheobronchial",
                    "type": "synonym"
                },
                {
                    "name": "mucin-5B precursor",
                    "type": "synonym"
                },
                {
                    "name": "sublingual gland mucin",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "MUC5B",
                    "type": "recommended"
                },
                {
                    "name": "MG1",
                    "type": "synonym"
                },
                {
                    "name": "MUC-5B",
                    "type": "synonym"
                },
                {
                    "name": "MUC5B",
                    "type": "synonym"
                },
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                    "name": "MUC5",
                    "type": "synonym"
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Mucin-2",
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                {
                    "name": "mucin-5B precursor",
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                    "type": "synonym"
                }
            ],
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                    "name": "Muc5b",
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                },
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                    "id": "0060971",
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            "uniprot_canonical_ac": "P08427-1",
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            ],
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                    "name": "Pulmonary surfactant-associated protein A",
                    "type": "recommended"
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                    "name": "PSP-A",
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                    "name": "SP-A",
                    "type": "synonym"
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                    "name": "Surfactant-associated protein 1 (pulmonary surfactant protein, SP-A)",
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                },
                {
                    "name": "pulmonary surfactant-associated protein A isoform 1 precursor",
                    "type": "synonym"
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                    "name": "pulmonary surfactant-associated protein A-like",
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                },
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                    "name": "pulmonary surfactant-associated protein A",
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                    "name": "surfactant, pulmonary-associated protein A1",
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                    "name": "Sftpa1",
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                },
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                    "name": "Sftpa1",
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                    "id": "0060971",
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            "uniprot_ac": "Q9VU94",
            "uniprot_id": "Q9VU94_DROME",
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            "species": [
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                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
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                }
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                    "name": "CG7002-PA",
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                    "name": "Hml-PA",
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                    "name": "hemolectin, isoform A",
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                },
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                    "name": "CT21553",
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                    "name": "Dmel\\CG7002",
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                    "name": "Dmel_CG7002",
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                    "name": "d-hml",
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                    "id": "0060971",
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                    "name": "Homo sapiens",
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                    "name": "Fibroblast growth factor 1",
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                    "type": "synonym"
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                    "name": "FGF-1",
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                    "name": "Heparin-binding growth factor 1",
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                },
                {
                    "name": "aFGF",
                    "type": "synonym"
                },
                {
                    "name": "beta-endothelial cell growth factor",
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                },
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                    "name": "endothelial cell growth factor, alpha",
                    "type": "synonym"
                },
                {
                    "name": "endothelial cell growth factor, beta",
                    "type": "synonym"
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                {
                    "name": "fibroblast growth factor 1 (acidic)",
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                {
                    "name": "fibroblast growth factor 1 isoform 1 precursor",
                    "type": "synonym"
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                {
                    "name": "heparin-binding growth factor 1",
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                    "name": "FGF1",
                    "type": "recommended"
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                    "name": "AFGF",
                    "type": "synonym"
                },
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                    "name": "ECGF-beta",
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                    "name": "ECGFA",
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                    "name": "ECGFB",
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                    "name": "ECGF",
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                    "name": "FGF-1",
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                    "name": "FGF-alpha",
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                {
                    "name": "FGF1",
                    "type": "synonym"
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                    "name": "FGFA",
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                {
                    "name": "GLIO703",
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                    "name": "HBGF-1",
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                    "name": "HBGF1",
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                    "id": "0060971",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060971"
}