{
    "disease_id": "DOID:0111101",
    "recommended_name": {
        "id": "DOID:0111101",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111101",
        "name": "renal cysts and diabetes syndrome",
        "description": "A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12."
    },
    "synonyms": [
        {
            "id": "DOID:0111101",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111101",
            "name": "CAKUT with diabetes",
            "description": ""
        },
        {
            "id": "DOID:0111101",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111101",
            "name": "MODY5",
            "description": ""
        },
        {
            "id": "DOID:0111101",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111101",
            "name": "RCAD",
            "description": ""
        },
        {
            "id": "DOID:0111101",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111101",
            "name": "congenital anomalies of the kidney and urinary tract with diabetes",
            "description": ""
        },
        {
            "id": "DOID:0111101",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111101",
            "name": "atypical FJHN",
            "description": ""
        },
        {
            "id": "DOID:0111101",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111101",
            "name": "familial hypoplastic glomerulocystic kidney",
            "description": ""
        },
        {
            "id": "DOID:0111101",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111101",
            "name": "hypoplastic type glomerulocystic kidney disease",
            "description": ""
        },
        {
            "id": "DOID:0111101",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111101",
            "name": "atypical familial juvenile hyperuricemic nephropathy",
            "description": ""
        },
        {
            "id": "DOID:0111101",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111101",
            "name": "maturity-onset diabetes of the young type 5",
            "description": ""
        },
        {
            "id": "MONDO:0007669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007669",
            "name": "renal cysts and diabetes syndrome",
            "description": "Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome."
        },
        {
            "id": "MONDO:0007669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007669",
            "name": "CAKUT with diabetes",
            "description": ""
        },
        {
            "id": "MONDO:0007669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007669",
            "name": "HNF1B-MODY",
            "description": ""
        },
        {
            "id": "MONDO:0007669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007669",
            "name": "HNF1B-related renal cysts and diabetes syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007669",
            "name": "MODY5",
            "description": ""
        },
        {
            "id": "MONDO:0007669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007669",
            "name": "RCAD",
            "description": ""
        },
        {
            "id": "MONDO:0007669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007669",
            "name": "RCAD syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007669",
            "name": "congenital anomalies of the kidney and urinary tract with diabetes",
            "description": ""
        },
        {
            "id": "MONDO:0007669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007669",
            "name": "hepatocyte nuclear Factor 1-beta-associated monogenic diabetes",
            "description": ""
        },
        {
            "id": "MONDO:0007669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007669",
            "name": "maturity onset diabetes of the Young, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0007669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007669",
            "name": "renal cysts and diabetes syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007669",
            "name": "renal cysts-maturity-onset diabetes of the young syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007669",
            "name": "renal dysfunction-early-onset diabetes syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007669",
            "name": "FJHN atypical",
            "description": ""
        },
        {
            "id": "MONDO:0007669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007669",
            "name": "MODY type 5",
            "description": ""
        },
        {
            "id": "MIM:137920",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/137920",
            "name": "Renal cysts and diabetes syndrome",
            "description": "Renal cysts and diabetes syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111101"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111101",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111101",
            "categories": []
        },
        {
            "id": "MONDO:0007669",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007669",
            "categories": []
        },
        {
            "id": "MIM:137920",
            "database": "MIM",
            "url": "https://www.omim.org/entry/137920",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A1L1N5-1",
            "uniprot_ac": "A1L1N5",
            "uniprot_id": "HN1BA_DANRE",
            "refseq_ac": "NP_571955",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte nuclear factor 1-beta-A",
                    "type": "recommended"
                },
                {
                    "name": "HNF-1-beta-A",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1B-2",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1B-A",
                    "type": "synonym"
                },
                {
                    "name": "HNF1 homeobox b",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocyte nuclear factor 1-beta-2",
                    "type": "synonym"
                },
                {
                    "name": "TCF-2",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "Variant hepatic nuclear factor 1",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-beta-2",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-beta-A",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-beta",
                    "type": "synonym"
                },
                {
                    "name": "hob",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 2, hepatic",
                    "type": "synonym"
                },
                {
                    "name": "vHNF1",
                    "type": "synonym"
                },
                {
                    "name": "variant hepatic nuclear factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hnf1ba",
                    "type": "recommended"
                },
                {
                    "name": "chunp6877",
                    "type": "synonym"
                },
                {
                    "name": "hnf1ba",
                    "type": "synonym"
                },
                {
                    "name": "hnf1b",
                    "type": "synonym"
                },
                {
                    "name": "mst",
                    "type": "synonym"
                },
                {
                    "name": "tcf2",
                    "type": "synonym"
                },
                {
                    "name": "vhnf1",
                    "type": "synonym"
                }
            ],
            "record_id": "A1L1N5-1",
            "evidence": [
                {
                    "id": "0111101",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111101"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8UW00-1",
            "uniprot_ac": "Q8UW00",
            "uniprot_id": "HN1BB_DANRE",
            "refseq_ac": "NP_919353",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte nuclear factor 1-beta-B",
                    "type": "recommended"
                },
                {
                    "name": "HNF-1-beta-B",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1B-B",
                    "type": "synonym"
                },
                {
                    "name": "HNF1g",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocyte nuclear factor 1-beta-like",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocyte nuclear factor 1-gamma",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-beta-B",
                    "type": "synonym"
                },
                {
                    "name": "liver-enriched atypical homeobox-containing transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 2 like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hnf1bb",
                    "type": "recommended"
                },
                {
                    "name": "HNF1g",
                    "type": "synonym"
                },
                {
                    "name": "hnf1bb",
                    "type": "synonym"
                },
                {
                    "name": "hnf1bl",
                    "type": "synonym"
                },
                {
                    "name": "hnf1gamma",
                    "type": "synonym"
                },
                {
                    "name": "hnf1g",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc23f06",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8UW00-1",
            "evidence": [
                {
                    "id": "0111101",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111101"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27889-1",
            "uniprot_ac": "P27889",
            "uniprot_id": "HNF1B_MOUSE",
            "refseq_ac": "NP_001278197",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte nuclear factor 1-beta",
                    "type": "recommended"
                },
                {
                    "name": "HNF-1-beta",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1B",
                    "type": "synonym"
                },
                {
                    "name": "Homeoprotein LFB3",
                    "type": "synonym"
                },
                {
                    "name": "TCF-2",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-beta isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-beta",
                    "type": "synonym"
                },
                {
                    "name": "homeoprotein LFB3",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hnf1b",
                    "type": "recommended"
                },
                {
                    "name": "HNF-1-beta",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1Beta",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1B",
                    "type": "synonym"
                },
                {
                    "name": "Hnf-1b",
                    "type": "synonym"
                },
                {
                    "name": "Hnf1beta",
                    "type": "synonym"
                },
                {
                    "name": "Hnf1b",
                    "type": "synonym"
                },
                {
                    "name": "LFB3",
                    "type": "synonym"
                },
                {
                    "name": "Tcf-2",
                    "type": "synonym"
                },
                {
                    "name": "Tcf2",
                    "type": "synonym"
                },
                {
                    "name": "vHNF1",
                    "type": "synonym"
                }
            ],
            "record_id": "P27889-1",
            "evidence": [
                {
                    "id": "0111101",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111101"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35680-1",
            "uniprot_ac": "P35680",
            "uniprot_id": "HNF1B_HUMAN",
            "refseq_ac": "NP_000449",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte nuclear factor 1-beta",
                    "type": "recommended"
                },
                {
                    "name": "HNF-1-beta",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1B",
                    "type": "synonym"
                },
                {
                    "name": "HNF1 beta A",
                    "type": "synonym"
                },
                {
                    "name": "Homeoprotein LFB3",
                    "type": "synonym"
                },
                {
                    "name": "TCF-2",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "Variant hepatic nuclear factor 1",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-beta isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-beta",
                    "type": "synonym"
                },
                {
                    "name": "homeoprotein LFB3",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 2, hepatic",
                    "type": "synonym"
                },
                {
                    "name": "vHNF1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HNF1B",
                    "type": "recommended"
                },
                {
                    "name": "ADTKD3",
                    "type": "synonym"
                },
                {
                    "name": "FJHN",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1-beta",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1B",
                    "type": "synonym"
                },
                {
                    "name": "HNF1B",
                    "type": "synonym"
                },
                {
                    "name": "HNF1beta",
                    "type": "synonym"
                },
                {
                    "name": "HNF2",
                    "type": "synonym"
                },
                {
                    "name": "HPC11",
                    "type": "synonym"
                },
                {
                    "name": "LF-B3",
                    "type": "synonym"
                },
                {
                    "name": "LFB3",
                    "type": "synonym"
                },
                {
                    "name": "MODY5",
                    "type": "synonym"
                },
                {
                    "name": "RCAD",
                    "type": "synonym"
                },
                {
                    "name": "T2D",
                    "type": "synonym"
                },
                {
                    "name": "TCF-2",
                    "type": "synonym"
                },
                {
                    "name": "TCF2",
                    "type": "synonym"
                },
                {
                    "name": "VHNF1",
                    "type": "synonym"
                }
            ],
            "record_id": "P35680-1",
            "evidence": [
                {
                    "id": "137920",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/137920"
                },
                {
                    "id": "0111101",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111101"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23899-1",
            "uniprot_ac": "P23899",
            "uniprot_id": "HNF1B_RAT",
            "refseq_ac": "NP_037235",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte nuclear factor 1-beta",
                    "type": "recommended"
                },
                {
                    "name": "HNF-1-beta",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1B",
                    "type": "synonym"
                },
                {
                    "name": "TCF-2",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 2, hepatic",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "Variant hepatic nuclear factor 1",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-beta isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-beta",
                    "type": "synonym"
                },
                {
                    "name": "vHNF1",
                    "type": "synonym"
                },
                {
                    "name": "variant hepatic nuclear factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hnf1b",
                    "type": "recommended"
                },
                {
                    "name": "HNF-1-beta",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1B",
                    "type": "synonym"
                },
                {
                    "name": "Hnf-1b",
                    "type": "synonym"
                },
                {
                    "name": "Hnf1b",
                    "type": "synonym"
                },
                {
                    "name": "LF-B3",
                    "type": "synonym"
                },
                {
                    "name": "Tcf2",
                    "type": "synonym"
                },
                {
                    "name": "VHNF1",
                    "type": "synonym"
                }
            ],
            "record_id": "P23899-1",
            "evidence": [
                {
                    "id": "0111101",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111101"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111101"
}