{
    "disease_id": "DOID:0060941",
    "recommended_name": {
        "id": "DOID:0060941",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060941",
        "name": "interstitial lung disease 1",
        "description": "An interstitial lung disease characterized by a progressive remodeling of the alveolar interstitium that has_material_basis_in heterozygous mutation in the SFTPA1 gene on chromosome 10q22."
    },
    "synonyms": [
        {
            "id": "DOID:0060941",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060941",
            "name": "Idiopathic pulmonary fibrosis",
            "description": ""
        },
        {
            "id": "MONDO:0030608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030608",
            "name": "interstitial lung disease 1",
            "description": "An interstitial lung disease in which the cause of the disease is a variation in the SFTPA1 gene."
        },
        {
            "id": "MONDO:0030608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030608",
            "name": "ILD1",
            "description": ""
        },
        {
            "id": "MONDO:0030608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030608",
            "name": "interstitial lung disease 1",
            "description": ""
        },
        {
            "id": "MIM:619611",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619611",
            "name": "Interstitial lung disease 1",
            "description": "Interstitial lung disease 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060941"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060941",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060941",
            "categories": []
        },
        {
            "id": "MONDO:0030608",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030608",
            "categories": []
        },
        {
            "id": "MIM:619611",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619611",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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",
            "evidence": [
                {
                    "id": "0060941",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060941"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IWL2-1",
            "uniprot_ac": "Q8IWL2",
            "uniprot_id": "SFTA1_HUMAN",
            "refseq_ac": "NP_001087239",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pulmonary surfactant-associated protein A1",
                    "type": "recommended"
                },
                {
                    "name": "35 kDa pulmonary surfactant-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Alveolar proteinosis protein",
                    "type": "synonym"
                },
                {
                    "name": "Collectin-4",
                    "type": "synonym"
                },
                {
                    "name": "PSP-A",
                    "type": "synonym"
                },
                {
                    "name": "PSPA",
                    "type": "synonym"
                },
                {
                    "name": "SP-A1",
                    "type": "synonym"
                },
                {
                    "name": "SP-A",
                    "type": "synonym"
                },
                {
                    "name": "alveolar proteinosis protein",
                    "type": "synonym"
                },
                {
                    "name": "collectin-4",
                    "type": "synonym"
                },
                {
                    "name": "pulmonary surfactant-associated protein A1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "surfactant protein A1B",
                    "type": "synonym"
                },
                {
                    "name": "surfactant, pulmonary-associated protein A1A",
                    "type": "synonym"
                },
                {
                    "name": "surfactant, pulmonary-associated protein A1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SFTPA1",
                    "type": "recommended"
                },
                {
                    "name": "COLEC4",
                    "type": "synonym"
                },
                {
                    "name": "ILD1",
                    "type": "synonym"
                },
                {
                    "name": "PSAP",
                    "type": "synonym"
                },
                {
                    "name": "PSP-A",
                    "type": "synonym"
                },
                {
                    "name": "PSPA",
                    "type": "synonym"
                },
                {
                    "name": "SFTP1",
                    "type": "synonym"
                },
                {
                    "name": "SFTPA1B",
                    "type": "synonym"
                },
                {
                    "name": "SFTPA1",
                    "type": "synonym"
                },
                {
                    "name": "SFTPA",
                    "type": "synonym"
                },
                {
                    "name": "SP-A1 beta",
                    "type": "synonym"
                },
                {
                    "name": "SP-A1 delta",
                    "type": "synonym"
                },
                {
                    "name": "SP-A1 epsilon",
                    "type": "synonym"
                },
                {
                    "name": "SP-A1 gamma",
                    "type": "synonym"
                },
                {
                    "name": "SP-A1",
                    "type": "synonym"
                },
                {
                    "name": "SP-A",
                    "type": "synonym"
                },
                {
                    "name": "SPA1",
                    "type": "synonym"
                },
                {
                    "name": "SPA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IWL2-1",
            "evidence": [
                {
                    "id": "619611",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619611"
                },
                {
                    "id": "0060941",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060941"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08427-1",
            "uniprot_ac": "P08427",
            "uniprot_id": "SFTPA_RAT",
            "refseq_ac": "NP_001257574",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pulmonary surfactant-associated protein A",
                    "type": "recommended"
                },
                {
                    "name": "PSAP",
                    "type": "synonym"
                },
                {
                    "name": "PSP-A",
                    "type": "synonym"
                },
                {
                    "name": "SP-A",
                    "type": "synonym"
                },
                {
                    "name": "Surfactant-associated protein 1 (pulmonary surfactant protein, SP-A)",
                    "type": "synonym"
                },
                {
                    "name": "pulmonary surfactant-associated protein A isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "pulmonary surfactant-associated protein A-like",
                    "type": "synonym"
                },
                {
                    "name": "pulmonary surfactant-associated protein A",
                    "type": "synonym"
                },
                {
                    "name": "surfactant, pulmonary-associated protein A1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sftpa1",
                    "type": "recommended"
                },
                {
                    "name": "PSAP",
                    "type": "synonym"
                },
                {
                    "name": "PSP-A",
                    "type": "synonym"
                },
                {
                    "name": "SP-A",
                    "type": "synonym"
                },
                {
                    "name": "Sftp-1",
                    "type": "synonym"
                },
                {
                    "name": "Sftp1",
                    "type": "synonym"
                },
                {
                    "name": "Sftpa1",
                    "type": "synonym"
                },
                {
                    "name": "Sftpa",
                    "type": "synonym"
                },
                {
                    "name": "Sftpl",
                    "type": "synonym"
                }
            ],
            "record_id": "P08427-1",
            "evidence": [
                {
                    "id": "0060941",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060941"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05230-1",
            "uniprot_ac": "P05230",
            "uniprot_id": "FGF1_HUMAN",
            "refseq_ac": "NP_000791",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Acidic fibroblast growth factor",
                    "type": "synonym"
                },
                {
                    "name": "ECGF",
                    "type": "synonym"
                },
                {
                    "name": "Endothelial cell growth factor",
                    "type": "synonym"
                },
                {
                    "name": "FGF-1",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-1",
                    "type": "synonym"
                },
                {
                    "name": "Heparin-binding growth factor 1",
                    "type": "synonym"
                },
                {
                    "name": "aFGF",
                    "type": "synonym"
                },
                {
                    "name": "beta-endothelial cell growth factor",
                    "type": "synonym"
                },
                {
                    "name": "endothelial cell growth factor, alpha",
                    "type": "synonym"
                },
                {
                    "name": "endothelial cell growth factor, beta",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 1 (acidic)",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "heparin-binding growth factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGF1",
                    "type": "recommended"
                },
                {
                    "name": "AFGF",
                    "type": "synonym"
                },
                {
                    "name": "ECGF-beta",
                    "type": "synonym"
                },
                {
                    "name": "ECGFA",
                    "type": "synonym"
                },
                {
                    "name": "ECGFB",
                    "type": "synonym"
                },
                {
                    "name": "ECGF",
                    "type": "synonym"
                },
                {
                    "name": "FGF-1",
                    "type": "synonym"
                },
                {
                    "name": "FGF-alpha",
                    "type": "synonym"
                },
                {
                    "name": "FGF1",
                    "type": "synonym"
                },
                {
                    "name": "FGFA",
                    "type": "synonym"
                },
                {
                    "name": "GLIO703",
                    "type": "synonym"
                },
                {
                    "name": "HBGF-1",
                    "type": "synonym"
                },
                {
                    "name": "HBGF1",
                    "type": "synonym"
                }
            ],
            "record_id": "P05230-1",
            "evidence": [
                {
                    "id": "0060941",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060941"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060941"
}