{
    "disease_id": "DOID:0111682",
    "recommended_name": {
        "id": "DOID:0111682",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111682",
        "name": "cystic renal dysplasia",
        "description": "A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder."
    },
    "synonyms": [
        {
            "id": "DOID:0111682",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111682",
            "name": "CYSRD",
            "description": ""
        },
        {
            "id": "DOID:0111682",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111682",
            "name": "renal dysplasia diffuse cystic",
            "description": ""
        },
        {
            "id": "DOID:0111682",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111682",
            "name": "susceptibility to cystic renal dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0111682",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111682",
            "name": "diffuse cystic renal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0011037",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011037",
            "name": "renal dysplasia, cystic, susceptibility to",
            "description": ""
        },
        {
            "id": "MONDO:0011037",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011037",
            "name": "renal dysplasia, cystic, susceptibility to",
            "description": ""
        },
        {
            "id": "MONDO:0011037",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011037",
            "name": "CYSRD",
            "description": ""
        },
        {
            "id": "MONDO:0011037",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011037",
            "name": "diffuse cystic renal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0011037",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011037",
            "name": "renal dysplasia diffuse cystic",
            "description": ""
        },
        {
            "id": "MIM:601331",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601331",
            "name": "Renal dysplasia, cystic",
            "description": "Renal dysplasia, cystic"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111682"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111682",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111682",
            "categories": []
        },
        {
            "id": "MONDO:0011037",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011037",
            "categories": []
        },
        {
            "id": "MIM:601331",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601331",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58HRB2-1",
            "uniprot_ac": "A0AC58HRB2",
            "uniprot_id": "A0AC58HRB2_DANRE",
            "refseq_ac": "XP_073784543",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein bicaudal C homolog 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "protein bicaudal C homolog 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bicc1a",
                    "type": "recommended"
                },
                {
                    "name": "bicc1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HRB2-1",
            "evidence": [
                {
                    "id": "0111682",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111682"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99MQ1-1",
            "uniprot_ac": "Q99MQ1",
            "uniprot_id": "BICC1_MOUSE",
            "refseq_ac": "NP_113574",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein bicaudal C homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "Bic-C",
                    "type": "synonym"
                },
                {
                    "name": "juvenile congenital polycystic kidney disease",
                    "type": "synonym"
                },
                {
                    "name": "polycystic kidney mutation of BALB/c origin",
                    "type": "synonym"
                },
                {
                    "name": "protein bicaudal C homolog 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein bicaudal C homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bicc1",
                    "type": "recommended"
                },
                {
                    "name": "Bic-C",
                    "type": "synonym"
                },
                {
                    "name": "Bicc1",
                    "type": "synonym"
                },
                {
                    "name": "bpk",
                    "type": "synonym"
                },
                {
                    "name": "jcpk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99MQ1-1",
            "evidence": [
                {
                    "id": "0111682",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111682"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H694-1",
            "uniprot_ac": "Q9H694",
            "uniprot_id": "BICC1_HUMAN",
            "refseq_ac": "NP_001073981",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein bicaudal C homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "Bic-C",
                    "type": "synonym"
                },
                {
                    "name": "FGFR2-BICC1 fusion kinase protein",
                    "type": "synonym"
                },
                {
                    "name": "bicaudal C homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protein bicaudal C homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BICC1",
                    "type": "recommended"
                },
                {
                    "name": "BICC1",
                    "type": "synonym"
                },
                {
                    "name": "BICC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H694-1",
            "evidence": [
                {
                    "id": "601331",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601331"
                },
                {
                    "id": "0111682",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111682"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K0Y0-1",
            "uniprot_ac": "A0A0G2K0Y0",
            "uniprot_id": "A0A0G2K0Y0_RAT",
            "refseq_ac": "NP_001402002",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "BicC family RNA binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "bicaudal C homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protein bicaudal C homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bicc1",
                    "type": "recommended"
                },
                {
                    "name": "Bicc1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K0Y0-1",
            "evidence": [
                {
                    "id": "0111682",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111682"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24009-1",
            "uniprot_ac": "Q24009",
            "uniprot_id": "BICC_DROME",
            "refseq_ac": "NP_476865",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein bicaudal C",
                    "type": "recommended"
                },
                {
                    "name": "BicC-PA",
                    "type": "synonym"
                },
                {
                    "name": "Bicaudal-C",
                    "type": "synonym"
                },
                {
                    "name": "CG4824-PA",
                    "type": "synonym"
                },
                {
                    "name": "bicaudal C, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BicC",
                    "type": "recommended"
                },
                {
                    "name": "BG:DS00913.2",
                    "type": "synonym"
                },
                {
                    "name": "BICC",
                    "type": "synonym"
                },
                {
                    "name": "Bic-C",
                    "type": "synonym"
                },
                {
                    "name": "BicC",
                    "type": "synonym"
                },
                {
                    "name": "CG4824",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4824",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4824",
                    "type": "synonym"
                },
                {
                    "name": "Dromel_CG4824_FBtr0080804_bicc_mORF",
                    "type": "synonym"
                },
                {
                    "name": "bicC",
                    "type": "synonym"
                },
                {
                    "name": "br34",
                    "type": "synonym"
                },
                {
                    "name": "l(2)br34",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24009-1",
            "evidence": [
                {
                    "id": "0111682",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111682"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111682"
}