{
    "disease_id": "DOID:0080207",
    "recommended_name": {
        "id": "DOID:0080207",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080207",
        "name": "congenital anomalies of the kidney and urinary tract 2",
        "description": "A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14."
    },
    "synonyms": [
        {
            "id": "DOID:0080207",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080207",
            "name": "CAKUT2",
            "description": ""
        },
        {
            "id": "DOID:0080207",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080207",
            "name": "Multicystic Dysplastic Kidney",
            "description": ""
        },
        {
            "id": "DOID:0080207",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080207",
            "name": "congenital anomalies of kidney and urinary tract 2",
            "description": ""
        },
        {
            "id": "MONDO:0027676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027676",
            "name": "congenital anomalies of kidney and urinary tract 2",
            "description": "Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene."
        },
        {
            "id": "MONDO:0027676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027676",
            "name": "TBX18 congenital anomaly of kidney and urinary tract",
            "description": ""
        },
        {
            "id": "MONDO:0027676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027676",
            "name": "congenital anomalies of kidney and urinary tract 2",
            "description": ""
        },
        {
            "id": "MONDO:0027676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027676",
            "name": "congenital anomalies of kidney and urinary tract type 2",
            "description": ""
        },
        {
            "id": "MONDO:0027676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027676",
            "name": "congenital anomaly of kidney and urinary tract caused by mutation in TBX18",
            "description": ""
        },
        {
            "id": "MONDO:0027676",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027676",
            "name": "CAKUT2",
            "description": ""
        },
        {
            "id": "MIM:143400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/143400",
            "name": "Congenital anomalies of kidney and urinary tract 2",
            "description": "Congenital anomalies of kidney and urinary tract 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080207"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080207",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080207",
            "categories": []
        },
        {
            "id": "MONDO:0027676",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027676",
            "categories": []
        },
        {
            "id": "MIM:143400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/143400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PA62-1",
            "uniprot_ac": "A0A8M1PA62",
            "uniprot_id": "A0A8M1PA62_DANRE",
            "refseq_ac": "NP_705951",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box 18",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbx18",
                    "type": "recommended"
                },
                {
                    "name": "tbx18",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PA62-1",
            "evidence": [
                {
                    "id": "0080207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21275-1",
            "uniprot_ac": "P21275",
            "uniprot_id": "BMP4_MOUSE",
            "refseq_ac": "NP_001303289",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein 4",
                    "type": "recommended"
                },
                {
                    "name": "BMP-2B",
                    "type": "synonym"
                },
                {
                    "name": "BMP-4",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 4 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmp4",
                    "type": "recommended"
                },
                {
                    "name": "Bmp-4",
                    "type": "synonym"
                },
                {
                    "name": "Bmp2b-1",
                    "type": "synonym"
                },
                {
                    "name": "Bmp2b1",
                    "type": "synonym"
                },
                {
                    "name": "Bmp2b",
                    "type": "synonym"
                },
                {
                    "name": "Bmp4",
                    "type": "synonym"
                },
                {
                    "name": "Dvr-4",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EPZ6-1",
            "uniprot_ac": "Q9EPZ6",
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            "refseq_ac": "NP_076303",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX18",
                    "type": "recommended"
                },
                {
                    "name": "T-box protein 18",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbx18",
                    "type": "recommended"
                },
                {
                    "name": "2810012F10Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810404D13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tbx18",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0080207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41245-1",
            "uniprot_ac": "P41245",
            "uniprot_id": "MMP9_MOUSE",
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            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrix metalloproteinase-9",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.35",
                    "type": "synonym"
                },
                {
                    "name": "92 kDa gelatinase",
                    "type": "synonym"
                },
                {
                    "name": "92 kDa type IV collagenase",
                    "type": "synonym"
                },
                {
                    "name": "92kD gelatinase",
                    "type": "synonym"
                },
                {
                    "name": "92kD type IV collagenase",
                    "type": "synonym"
                },
                {
                    "name": "GELB",
                    "type": "synonym"
                },
                {
                    "name": "Gelatinase B",
                    "type": "synonym"
                },
                {
                    "name": "MMP-9",
                    "type": "synonym"
                },
                {
                    "name": "collagenase type IVB",
                    "type": "synonym"
                },
                {
                    "name": "gelatinase B",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-9 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmp9",
                    "type": "recommended"
                },
                {
                    "name": "B/MMP9",
                    "type": "synonym"
                },
                {
                    "name": "Clg4b",
                    "type": "synonym"
                },
                {
                    "name": "Gel B",
                    "type": "synonym"
                },
                {
                    "name": "MMP-9",
                    "type": "synonym"
                },
                {
                    "name": "Mmp9",
                    "type": "synonym"
                },
                {
                    "name": "pro-MMP-9",
                    "type": "synonym"
                }
            ],
            "record_id": "P41245-1",
            "evidence": [
                {
                    "id": "0080207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12032-1",
            "uniprot_ac": "P12032",
            "uniprot_id": "TIMP1_MOUSE",
            "refseq_ac": "NP_001037849",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metalloproteinase inhibitor 1",
                    "type": "recommended"
                },
                {
                    "name": "Collagenase inhibitor 16C8 fibroblast",
                    "type": "synonym"
                },
                {
                    "name": "EPA",
                    "type": "synonym"
                },
                {
                    "name": "Erythroid-potentiating activity",
                    "type": "synonym"
                },
                {
                    "name": "TIMP-1",
                    "type": "synonym"
                },
                {
                    "name": "TPA-S1",
                    "type": "synonym"
                },
                {
                    "name": "TPA-induced protein",
                    "type": "synonym"
                },
                {
                    "name": "Tissue inhibitor of metalloproteinases 1",
                    "type": "synonym"
                },
                {
                    "name": "collagenase inhibitor 16C8 fibroblast",
                    "type": "synonym"
                },
                {
                    "name": "erythroid-potentiating activity",
                    "type": "synonym"
                },
                {
                    "name": "metalloproteinase inhibitor 1 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "metalloproteinase inhibitor 1",
                    "type": "synonym"
                },
                {
                    "name": "tissue inhibitor of metalloproteinases 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Timp1",
                    "type": "recommended"
                },
                {
                    "name": "Clgi",
                    "type": "synonym"
                },
                {
                    "name": "EPA",
                    "type": "synonym"
                },
                {
                    "name": "TIMP-1",
                    "type": "synonym"
                },
                {
                    "name": "TPA-S1",
                    "type": "synonym"
                },
                {
                    "name": "Timp-1",
                    "type": "synonym"
                },
                {
                    "name": "Timp1",
                    "type": "synonym"
                },
                {
                    "name": "Timp",
                    "type": "synonym"
                }
            ],
            "record_id": "P12032-1",
            "evidence": [
                {
                    "id": "0080207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95935-1",
            "uniprot_ac": "O95935",
            "uniprot_id": "TBX18_HUMAN",
            "refseq_ac": "NP_001073977",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-box transcription factor TBX18",
                    "type": "recommended"
                },
                {
                    "name": "T-box 18",
                    "type": "synonym"
                },
                {
                    "name": "T-box protein 18",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBX18",
                    "type": "recommended"
                },
                {
                    "name": "CAKUT2",
                    "type": "synonym"
                },
                {
                    "name": "PUJO",
                    "type": "synonym"
                },
                {
                    "name": "TBX18",
                    "type": "synonym"
                }
            ],
            "record_id": "O95935-1",
            "evidence": [
                {
                    "id": "143400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/143400"
                },
                {
                    "id": "0080207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06826-1",
            "uniprot_ac": "Q06826",
            "uniprot_id": "BMP4_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Bone morphogenetic protein 4",
                    "type": "recommended"
                },
                {
                    "name": "BMP-2B",
                    "type": "synonym"
                },
                {
                    "name": "BMP-4",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 2B",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Bmp4",
                    "type": "recommended"
                },
                {
                    "name": "Bmp-4",
                    "type": "synonym"
                },
                {
                    "name": "Dvr-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06826-1",
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                {
                    "id": "0080207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A1V6-1",
            "uniprot_ac": "D4A1V6",
            "uniprot_id": "D4A1V6_RAT",
            "refseq_ac": "NP_001101643",
            "glycoprotein": "no",
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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": "T-box transcription factor 18",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX18",
                    "type": "synonym"
                },
                {
                    "name": "T-box18",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Tbx18",
                    "type": "recommended"
                },
                {
                    "name": "Tbx18",
                    "type": "synonym"
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                {
                    "id": "0080207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080207"
                }
            ]
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        {
            "uniprot_canonical_ac": "P50282-1",
            "uniprot_ac": "P50282",
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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": "Matrix metalloproteinase-9",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.35",
                    "type": "synonym"
                },
                {
                    "name": "92 kDa gelatinase",
                    "type": "synonym"
                },
                {
                    "name": "92 kDa type IV collagenase",
                    "type": "synonym"
                },
                {
                    "name": "92-kDa type IV collagenase",
                    "type": "synonym"
                },
                {
                    "name": "GELB",
                    "type": "synonym"
                },
                {
                    "name": "Gelatinase B",
                    "type": "synonym"
                },
                {
                    "name": "MMP-9",
                    "type": "synonym"
                },
                {
                    "name": "gelatinase B",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase 9 (gelatinase B, 92-kDa type IV collagenase)",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-9 precursor",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmp9",
                    "type": "recommended"
                },
                {
                    "name": "Mmp9",
                    "type": "synonym"
                }
            ],
            "record_id": "P50282-1",
            "evidence": [
                {
                    "id": "0080207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30120-1",
            "uniprot_ac": "P30120",
            "uniprot_id": "TIMP1_RAT",
            "refseq_ac": "NP_446271",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Metalloproteinase inhibitor 1",
                    "type": "recommended"
                },
                {
                    "name": "TIMP-1",
                    "type": "synonym"
                },
                {
                    "name": "Tissue inhibitor of metalloproteinases 1",
                    "type": "synonym"
                },
                {
                    "name": "metalloproteinase inhibitor 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "metalloproteinase inhibitor 1",
                    "type": "synonym"
                },
                {
                    "name": "tissue inhibitor of metallopeptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "tissue inhibitor of metalloproteinase 1",
                    "type": "synonym"
                },
                {
                    "name": "tissue inhibitor of metalloproteinases 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Timp1",
                    "type": "recommended"
                },
                {
                    "name": "TIMP-1",
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                },
                {
                    "name": "Timp-1",
                    "type": "synonym"
                },
                {
                    "name": "Timp1",
                    "type": "synonym"
                },
                {
                    "name": "Timp",
                    "type": "synonym"
                }
            ],
            "record_id": "P30120-1",
            "evidence": [
                {
                    "id": "0080207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07713-1",
            "uniprot_ac": "P07713",
            "uniprot_id": "DECA_DROME",
            "refseq_ac": "NP_477311",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein decapentaplegic",
                    "type": "recommended"
                },
                {
                    "name": "CG9885-PA",
                    "type": "synonym"
                },
                {
                    "name": "Decapentaplegic/Bone morphogenetic protein",
                    "type": "synonym"
                },
                {
                    "name": "Haplo-insufficient",
                    "type": "synonym"
                },
                {
                    "name": "Protein DPP-C",
                    "type": "synonym"
                },
                {
                    "name": "blink",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenic protein",
                    "type": "synonym"
                },
                {
                    "name": "decapentaplegic, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "decapentaplegic",
                    "type": "synonym"
                },
                {
                    "name": "dpp-PA",
                    "type": "synonym"
                },
                {
                    "name": "heldout",
                    "type": "synonym"
                },
                {
                    "name": "shortvein",
                    "type": "synonym"
                },
                {
                    "name": "tegula",
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                    "name": "CG9885",
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                    "name": "l(2)10638",
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                    "name": "l(2)22Fa",
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                    "name": "l(2)k17036",
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                    "name": "shv",
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            ],
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                    "name": "Erythroid-potentiating activity",
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    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080207"
}