{
    "disease_id": "DOID:0111365",
    "recommended_name": {
        "id": "DOID:0111365",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111365",
        "name": "benign familial hematuria",
        "description": "A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in the COL4A3 gene or the COL4A4 gene on chromosome 2q36.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111365",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111365",
            "name": "BFH",
            "description": ""
        },
        {
            "id": "DOID:0111365",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111365",
            "name": "TMN",
            "description": ""
        },
        {
            "id": "DOID:0111365",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111365",
            "name": "thin basement membrane nephropathy",
            "description": ""
        },
        {
            "id": "DOID:0111365",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111365",
            "name": "thin membrane nephropathy",
            "description": ""
        },
        {
            "id": "MONDO:0007709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007709",
            "name": "hematuria, benign familial, 1",
            "description": ""
        },
        {
            "id": "MONDO:0007709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007709",
            "name": "hematuria, benign familial",
            "description": ""
        },
        {
            "id": "MONDO:0007709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007709",
            "name": "hematuria, familial benign",
            "description": ""
        },
        {
            "id": "MONDO:0007709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007709",
            "name": "BFH",
            "description": ""
        },
        {
            "id": "MIM:141200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/141200",
            "name": "Hematuria, benign familial, 1",
            "description": "Hematuria, benign familial, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111365"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111365",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111365",
            "categories": []
        },
        {
            "id": "MONDO:0007709",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007709",
            "categories": []
        },
        {
            "id": "MIM:141200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/141200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "X1WFR7-1",
            "uniprot_ac": "X1WFR7",
            "uniprot_id": "X1WFR7_DANRE",
            "refseq_ac": "XP_009290110",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein col4a4",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein col4a4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "col4a4",
                    "type": "recommended"
                },
                {
                    "name": "col4a4",
                    "type": "synonym"
                }
            ],
            "record_id": "X1WFR7-1",
            "evidence": [
                {
                    "id": "0111365",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111365"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8N7TBD4-1",
            "uniprot_ac": "A0A8N7TBD4",
            "uniprot_id": "A0A8N7TBD4_DANRE",
            "refseq_ac": "XP_694013",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein col4a3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein col4a3 isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "col4a3",
                    "type": "recommended"
                },
                {
                    "name": "col4a3",
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                }
            ],
            "record_id": "A0A8N7TBD4-1",
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                    "id": "0111365",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZR9-1",
            "uniprot_ac": "Q9QZR9",
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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": "Collagen alpha-4(IV) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen alpha-4(IV) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-4(IV) chain",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type IV, alpha 4",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Col4a4",
                    "type": "recommended"
                },
                {
                    "name": "Col4a4",
                    "type": "synonym"
                },
                {
                    "name": "E130010M05Rik",
                    "type": "synonym"
                },
                {
                    "name": "[a]4(IV)",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZR9-1",
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                {
                    "id": "0111365",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111365"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZS0-1",
            "uniprot_ac": "Q9QZS0",
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            "refseq_ac": "NP_031760",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-3(IV) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen alpha-3(IV) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(IV) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen type IV alpha3 chain",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type IV, alpha 3",
                    "type": "synonym"
                },
                {
                    "name": "tumstatin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col4a3",
                    "type": "recommended"
                },
                {
                    "name": "Col4a3",
                    "type": "synonym"
                },
                {
                    "name": "[a]3(IV)",
                    "type": "synonym"
                },
                {
                    "name": "alpha3(IV)",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZS0-1",
            "evidence": [
                {
                    "id": "0111365",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111365"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53420-1",
            "uniprot_ac": "P53420",
            "uniprot_id": "CO4A4_HUMAN",
            "refseq_ac": "NP_000083",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-4(IV) chain",
                    "type": "recommended"
                },
                {
                    "name": "Collagen IV, alpha-4 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-4(IV) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-4(IV) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen of basement membrane, alpha-4 chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type IV, alpha 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL4A4",
                    "type": "recommended"
                },
                {
                    "name": "ATS2",
                    "type": "synonym"
                },
                {
                    "name": "BFH1",
                    "type": "synonym"
                },
                {
                    "name": "BFH",
                    "type": "synonym"
                },
                {
                    "name": "CA44",
                    "type": "synonym"
                },
                {
                    "name": "COL4A4",
                    "type": "synonym"
                }
            ],
            "record_id": "P53420-1",
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                {
                    "id": "141200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/141200"
                },
                {
                    "id": "0111365",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111365"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A9Z5-1",
            "uniprot_ac": "A0A8I6A9Z5",
            "uniprot_id": "A0A8I6A9Z5_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Collagen type IV alpha 4 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col4a4",
                    "type": "recommended"
                }
            ],
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                {
                    "id": "0111365",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LX72-1",
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                    "name": "Rattus norvegicus",
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                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Collagen type IV alpha 3 chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(IV) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(IV) chain-like",
                    "type": "synonym"
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                {
                    "name": "collagen alpha-3(IV) chain",
                    "type": "synonym"
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                {
                    "name": "collagen, type IV, alpha 3 (Goodpasture antigen)",
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                    "name": "procollagen, type IV, alpha 3",
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            ],
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                    "name": "Col4a3",
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                {
                    "name": "LOC100911572",
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            ],
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                    "id": "0111365",
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        {
            "uniprot_canonical_ac": "A0A096MKF9-1",
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                {
                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Complement C2",
                    "type": "recommended"
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                {
                    "name": "C3/C5 convertase",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "C2",
                    "type": "recommended"
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                    "name": "Cfb",
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                    "id": "0111365",
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                }
            ]
        },
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            "uniprot_canonical_ac": "P04640-1",
            "uniprot_ac": "P04640",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Osteocalcin",
                    "type": "recommended"
                },
                {
                    "name": "BGP",
                    "type": "synonym"
                },
                {
                    "name": "Bone Gla protein",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-carboxyglutamic acid-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "bone Gla-protein",
                    "type": "synonym"
                },
                {
                    "name": "bone gamma-carboxyglutamate (gla) protein (osteocalcin)",
                    "type": "synonym"
                },
                {
                    "name": "bone gamma-carboxyglutamate protein 2",
                    "type": "synonym"
                },
                {
                    "name": "bone gamma-carboxyglutamic acid (Gla) protein (osteocalcin)",
                    "type": "synonym"
                },
                {
                    "name": "gamma-carboxyglutamic acid-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "osteocalcin preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "osteocalcin",
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                }
            ],
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                {
                    "name": "Bglap",
                    "type": "recommended"
                },
                {
                    "name": "Bglap2",
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                },
                {
                    "name": "Bglap",
                    "type": "synonym"
                },
                {
                    "name": "Bgpra",
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                },
                {
                    "name": "Bgpr",
                    "type": "synonym"
                },
                {
                    "name": "Bgp",
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                }
            ],
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                {
                    "id": "0111365",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111365"
                }
            ]
        },
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            "uniprot_canonical_ac": "P08120-1",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Collagen alpha-1(IV) chain",
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                {
                    "name": "CG4145-PA",
                    "type": "synonym"
                },
                {
                    "name": "Col4a1-PA",
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                },
                {
                    "name": "Collagen type IV alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "collagen IV alpha1",
                    "type": "synonym"
                },
                {
                    "name": "collagen IVa1",
                    "type": "synonym"
                },
                {
                    "name": "collagen IV",
                    "type": "synonym"
                },
                {
                    "name": "collagen type IV alpha 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "collagen type IV",
                    "type": "synonym"
                },
                {
                    "name": "collagenIV a1",
                    "type": "synonym"
                },
                {
                    "name": "laminin alpha3,5",
                    "type": "synonym"
                },
                {
                    "name": "preprocollagen alpha1(IV)",
                    "type": "synonym"
                },
                {
                    "name": "procollagen IV",
                    "type": "synonym"
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                {
                    "name": "type IV collagen, alpha-chain",
                    "type": "synonym"
                }
            ],
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                    "name": "Col4a1",
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                    "name": "CG25C",
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                {
                    "name": "CG4145",
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                {
                    "name": "COL4A1",
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                {
                    "name": "CT12803",
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                    "name": "Cg25C",
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                {
                    "name": "Cg25c",
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                {
                    "name": "Cgc25C",
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                },
                {
                    "name": "Cgc25",
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                {
                    "name": "Col IV alpha(1)",
                    "type": "synonym"
                },
                {
                    "name": "Col4A1",
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                },
                {
                    "name": "Col4a1",
                    "type": "synonym"
                },
                {
                    "name": "Col4alpha1",
                    "type": "synonym"
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                {
                    "name": "ColIValpha1",
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                },
                {
                    "name": "Coll IV",
                    "type": "synonym"
                },
                {
                    "name": "Coll",
                    "type": "synonym"
                },
                {
                    "name": "DCg1",
                    "type": "synonym"
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                {
                    "name": "Dcg-1",
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                },
                {
                    "name": "Dcg1",
                    "type": "synonym"
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                {
                    "name": "Dcg",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4145",
                    "type": "synonym"
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                {
                    "name": "alpha(IV)1/Cg25C",
                    "type": "synonym"
                },
                {
                    "name": "alpha1",
                    "type": "synonym"
                },
                {
                    "name": "cg25C",
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                },
                {
                    "name": "cg25c",
                    "type": "synonym"
                },
                {
                    "name": "col4a1",
                    "type": "synonym"
                },
                {
                    "name": "dcg1",
                    "type": "synonym"
                },
                {
                    "name": "gp125",
                    "type": "synonym"
                }
            ],
            "record_id": "P08120-1",
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                {
                    "id": "0111365",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111365"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01955-1",
            "uniprot_ac": "Q01955",
            "uniprot_id": "CO4A3_HUMAN",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Collagen alpha-3(IV) chain",
                    "type": "recommended"
                },
                {
                    "name": "Goodpasture antigen",
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                },
                {
                    "name": "collagen IV, alpha-3 polypeptide",
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                },
                {
                    "name": "collagen alpha-3(IV) chain precursor",
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                {
                    "name": "collagen alpha-3(IV) chain",
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                },
                {
                    "name": "collagen, type IV, alpha 3 (Goodpasture antigen)",
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                    "name": "tumstatin",
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                }
            ],
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                    "name": "COL4A3",
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                },
                {
                    "name": "ATS2",
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                },
                {
                    "name": "ATS3A",
                    "type": "synonym"
                },
                {
                    "name": "ATS3B",
                    "type": "synonym"
                },
                {
                    "name": "ATS3",
                    "type": "synonym"
                },
                {
                    "name": "BFH2",
                    "type": "synonym"
                },
                {
                    "name": "COL4A3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01955-1",
            "evidence": [
                {
                    "id": "0111365",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111365"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111365"
}