{
    "disease_id": "DOID:0050831",
    "recommended_name": {
        "id": "DOID:0050831",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050831",
        "name": "familial encephalopathy with neuroserpin inclusion bodies",
        "description": "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern."
    },
    "synonyms": [
        {
            "id": "DOID:0050831",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050831",
            "name": "FENIB",
            "description": ""
        },
        {
            "id": "MONDO:0011412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011412",
            "name": "familial encephalopathy with neuroserpin inclusion bodies",
            "description": "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has material basis in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern."
        },
        {
            "id": "MONDO:0011412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011412",
            "name": "FENIB",
            "description": ""
        },
        {
            "id": "MONDO:0011412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011412",
            "name": "encephalopathy, familial, with neuroserpin inclusion bodies",
            "description": ""
        },
        {
            "id": "MIM:604218",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604218",
            "name": "Encephalopathy, familial, with neuroserpin inclusion bodies",
            "description": "Encephalopathy, familial, with neuroserpin inclusion bodies"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050831"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050831",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050831",
            "categories": []
        },
        {
            "id": "MONDO:0011412",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011412",
            "categories": []
        },
        {
            "id": "MIM:604218",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604218",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6R5-1",
            "uniprot_ac": "A0ACD6B6R5",
            "uniprot_id": "A0ACD6B6R5_DANRE",
            "refseq_ac": "XP_005166940",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plasma protease C1 inhibitor isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "plasma protease C1 inhibitor isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "serping1",
                    "type": "recommended"
                },
                {
                    "name": "C1IN",
                    "type": "synonym"
                },
                {
                    "name": "im:7159527",
                    "type": "synonym"
                },
                {
                    "name": "serping1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-110g5.2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb60c09",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb62a08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb64f02",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6R5-1",
            "evidence": [
                {
                    "id": "0050831",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050831"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35684-1",
            "uniprot_ac": "O35684",
            "uniprot_id": "NEUS_MOUSE",
            "refseq_ac": "NP_033276",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neuroserpin",
                    "type": "recommended"
                },
                {
                    "name": "PI-12",
                    "type": "synonym"
                },
                {
                    "name": "Peptidase inhibitor 12",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease inhibitor 17",
                    "type": "synonym"
                },
                {
                    "name": "Serpin I1",
                    "type": "synonym"
                },
                {
                    "name": "neuroserpin isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "peptidase inhibitor 12",
                    "type": "synonym"
                },
                {
                    "name": "protease inhibitor 17",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor 17",
                    "type": "synonym"
                },
                {
                    "name": "serpin I1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Serpini1",
                    "type": "recommended"
                },
                {
                    "name": "Ns",
                    "type": "synonym"
                },
                {
                    "name": "PI-12",
                    "type": "synonym"
                },
                {
                    "name": "PI12",
                    "type": "synonym"
                },
                {
                    "name": "Pi12",
                    "type": "synonym"
                },
                {
                    "name": "Serpini1",
                    "type": "synonym"
                },
                {
                    "name": "Spi17",
                    "type": "synonym"
                }
            ],
            "record_id": "O35684-1",
            "evidence": [
                {
                    "id": "0050831",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050831"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97290-1",
            "uniprot_ac": "P97290",
            "uniprot_id": "IC1_MOUSE",
            "refseq_ac": "NP_033906",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plasma protease C1 inhibitor",
                    "type": "recommended"
                },
                {
                    "name": "C1 Inh",
                    "type": "synonym"
                },
                {
                    "name": "C1 esterase inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "C1-inhibiting factor",
                    "type": "synonym"
                },
                {
                    "name": "C1Inh",
                    "type": "synonym"
                },
                {
                    "name": "Serpin G1",
                    "type": "synonym"
                },
                {
                    "name": "complement component 1 inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "plasma protease C1 inhibitor precursor",
                    "type": "synonym"
                },
                {
                    "name": "plasma protease C1 inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade G, member 1",
                    "type": "synonym"
                },
                {
                    "name": "serpin G1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Serping1",
                    "type": "recommended"
                },
                {
                    "name": "C1 Inh",
                    "type": "synonym"
                },
                {
                    "name": "C1INH.",
                    "type": "synonym"
                },
                {
                    "name": "C1Inh",
                    "type": "synonym"
                },
                {
                    "name": "C1nh",
                    "type": "synonym"
                },
                {
                    "name": "Serping1",
                    "type": "synonym"
                }
            ],
            "record_id": "P97290-1",
            "evidence": [
                {
                    "id": "0050831",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050831"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z451-1",
            "uniprot_ac": "D3Z451",
            "uniprot_id": "D3Z451_MOUSE",
            "refseq_ac": "NP_001094942",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3J",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3J precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3J",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Serpina3j",
                    "type": "recommended"
                },
                {
                    "name": "EG238395",
                    "type": "synonym"
                },
                {
                    "name": "Gm4931",
                    "type": "synonym"
                },
                {
                    "name": "Serpina3j",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z451-1",
            "evidence": [
                {
                    "id": "0050831",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050831"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00898-1",
            "uniprot_ac": "Q00898",
            "uniprot_id": "A1AT5_MOUSE",
            "refseq_ac": "NP_033273",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-1-antitrypsin 1-5",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-1 protease inhibitor 5",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease inhibitor 1-5",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease inhibitor A1e",
                    "type": "synonym"
                },
                {
                    "name": "Serpin A1e",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 protease inhibitor 5",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1-antitrypsin 1-5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1-antitrypsin 1-5",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade A, member 1e",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor 1-5",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor A1e",
                    "type": "synonym"
                },
                {
                    "name": "serpin A1e",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Serpina1e",
                    "type": "recommended"
                },
                {
                    "name": "Dom5",
                    "type": "synonym"
                },
                {
                    "name": "PI5",
                    "type": "synonym"
                },
                {
                    "name": "Serpina1e",
                    "type": "synonym"
                },
                {
                    "name": "Spi1-5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00898-1",
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                {
                    "id": "0050831",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050831"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DCQ7-1",
            "uniprot_ac": "Q9DCQ7",
            "uniprot_id": "A1AT6_MOUSE",
            "refseq_ac": "NP_001158214",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-1-antitrypsin 1-6",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-1 protease inhibitor 6",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-1-antiproteinase",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease inhibitor 1-6",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease inhibitor A1f",
                    "type": "synonym"
                },
                {
                    "name": "Serpin A1f",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 protease inhibitor 6",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1-antiproteinase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1-antitrypsin 1-6 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1-antitrypsin 1-6",
                    "type": "synonym"
                },
                {
                    "name": "epididymal serine protease inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "epsin",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor 1-6",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor A1f",
                    "type": "synonym"
                },
                {
                    "name": "serpin A1f",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Serpina1f",
                    "type": "recommended"
                },
                {
                    "name": "0610012A11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Serpina1f",
                    "type": "synonym"
                },
                {
                    "name": "Serpina2",
                    "type": "synonym"
                },
                {
                    "name": "epserin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DCQ7-1",
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                {
                    "id": "0050831",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050831"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q00897-1",
            "uniprot_ac": "Q00897",
            "uniprot_id": "A1AT4_MOUSE",
            "refseq_ac": "NP_033272",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-1-antitrypsin 1-4",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-1 protease inhibitor 1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-1 protease inhibitor 4",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-1-antiproteinase",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-1-antitrypsin 1-1",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease inhibitor 1-1",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease inhibitor 1-4",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease inhibitor A1a",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease inhibitor A1d",
                    "type": "synonym"
                },
                {
                    "name": "Serpin A1a",
                    "type": "synonym"
                },
                {
                    "name": "Serpin A1d",
                    "type": "synonym"
                },
                {
                    "name": "Serpina1 DOM-7",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 protease inhibitor 4",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1-antitrypsin 1-4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1-antitrypsin 1-4",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade A, member 1d",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor 1-4",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor A1d",
                    "type": "synonym"
                },
                {
                    "name": "serpin A1d",
                    "type": "synonym"
                }
            ],
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                    "name": "Serpina1d",
                    "type": "recommended"
                },
                {
                    "name": "AAT",
                    "type": "synonym"
                },
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                    "name": "DOM-7",
                    "type": "synonym"
                },
                {
                    "name": "Dom1",
                    "type": "synonym"
                },
                {
                    "name": "Dom4",
                    "type": "synonym"
                },
                {
                    "name": "PI4",
                    "type": "synonym"
                },
                {
                    "name": "Serpina1a",
                    "type": "synonym"
                },
                {
                    "name": "Serpina1d",
                    "type": "synonym"
                },
                {
                    "name": "Spi1-1",
                    "type": "synonym"
                },
                {
                    "name": "Spi1-4",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0050831",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050831"
                }
            ]
        },
        {
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                    "name": "Mus musculus",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine (or cysteine) peptidase inhibitor, clade A, member 3I",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 antiproteinase",
                    "type": "synonym"
                },
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                    "name": "antitrypsin",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) peptidase inhibitor, clade A, member 3I",
                    "type": "synonym"
                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade A, member 3I",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Serpina3i",
                    "type": "recommended"
                },
                {
                    "name": "2B2",
                    "type": "synonym"
                },
                {
                    "name": "EG628900",
                    "type": "synonym"
                },
                {
                    "name": "Gm6930",
                    "type": "synonym"
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                    "name": "Serpina3i",
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                {
                    "id": "0050831",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050831"
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Serine protease inhibitor A3F",
                    "type": "recommended"
                },
                {
                    "name": "Serpin A3F",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 antiproteinasin",
                    "type": "synonym"
                },
                {
                    "name": "antitrypsin",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor A3F",
                    "type": "synonym"
                },
                {
                    "name": "serpin A3F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Serpina3f",
                    "type": "recommended"
                },
                {
                    "name": "2A1",
                    "type": "synonym"
                },
                {
                    "name": "Serpina3f",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050831",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050831"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07758-1",
            "uniprot_ac": "P07758",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-1-antitrypsin 1-1",
                    "type": "recommended"
                },
                {
                    "name": "AAT",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-1 protease inhibitor 1",
                    "type": "synonym"
                },
                {
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            ],
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                }
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            ],
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            ],
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            ],
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                    "name": "Protein translation factor SUI1 homolog",
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                    "name": "eukaryotic translation initiation factor 1",
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                    "name": "EIF1A",
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                    "id": "0050831",
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                {
                    "name": "Homo sapiens",
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                }
            ],
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                    "name": "Serpin B7",
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                    "name": "Megsin",
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                {
                    "name": "TP55",
                    "type": "synonym"
                },
                {
                    "name": "mesangium predominant gene, megsin",
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                },
                {
                    "name": "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7",
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                {
                    "name": "serpin B7 isoform 1",
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                {
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                }
            ],
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                    "name": "MEGSIN",
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                },
                {
                    "name": "PPKN",
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                },
                {
                    "name": "SERPINB7",
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                {
                    "name": "TP55",
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                }
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                    "id": "0050831",
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            ]
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                {
                    "name": "Homo sapiens",
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                }
            ],
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                {
                    "name": "Plasma protease C1 inhibitor",
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                {
                    "name": "C1 Inh",
                    "type": "synonym"
                },
                {
                    "name": "C1 esterase inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "C1-inhibiting factor",
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                },
                {
                    "name": "C1-inhibitor",
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                    "name": "C1Inh",
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                {
                    "name": "Serpin G1",
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                {
                    "name": "complement component 1 inhibitor",
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                {
                    "name": "epididymis secretory sperm binding protein",
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                {
                    "name": "plasma protease C1 inhibitor precursor",
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                {
                    "name": "plasma protease C1 inhibitor",
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                {
                    "name": "serine/cysteine proteinase inhibitor clade G member 1",
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                {
                    "name": "serpin G1",
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                {
                    "name": "serpin peptidase inhibitor clade G member 1",
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            ],
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                    "name": "C1INH",
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                {
                    "name": "C1IN",
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                {
                    "name": "C1NH",
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                {
                    "name": "HAE1",
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                },
                {
                    "name": "HAE2",
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                {
                    "name": "SERPING1",
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                    "id": "0050831",
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            ],
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                {
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                {
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                    "name": "SERPIN11",
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                    "id": "0050831",
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                    "name": "Ang III",
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                    "name": "Ang II",
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                    "name": "Ang IV",
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                    "name": "Angiotensin 1-10",
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                    "id": "0050831",
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            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050831"
}