{
    "disease_id": "DOID:0080273",
    "recommended_name": {
        "id": "DOID:0080273",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080273",
        "name": "polycystic kidney disease 5",
        "description": "A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0033281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033281",
            "name": "polycystic kidney disease 5",
            "description": "Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene."
        },
        {
            "id": "MONDO:0033281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033281",
            "name": "DZIP1L polycystic kidney disease",
            "description": ""
        },
        {
            "id": "MONDO:0033281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033281",
            "name": "polycystic kidney disease 5",
            "description": ""
        },
        {
            "id": "MONDO:0033281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033281",
            "name": "polycystic kidney disease caused by mutation in DZIP1L",
            "description": ""
        },
        {
            "id": "MONDO:0033281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033281",
            "name": "PKD5",
            "description": ""
        },
        {
            "id": "MIM:617610",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617610",
            "name": "Polycystic kidney disease 5",
            "description": "Polycystic kidney disease 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080273"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080273",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080273",
            "categories": []
        },
        {
            "id": "MONDO:0033281",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033281",
            "categories": []
        },
        {
            "id": "MIM:617610",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617610",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q32PN7-1",
            "uniprot_ac": "Q32PN7",
            "uniprot_id": "DZI1L_DANRE",
            "refseq_ac": "NP_001032304",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilium assembly protein DZIP1L",
                    "type": "recommended"
                },
                {
                    "name": "DAZ interacting protein 1-like",
                    "type": "synonym"
                },
                {
                    "name": "DAZ-interacting protein 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "DAZ-interacting zinc finger protein 1-like",
                    "type": "synonym"
                },
                {
                    "name": "cilium assembly protein DZIP1L",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein DZIP1L",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dzip1l",
                    "type": "recommended"
                },
                {
                    "name": "dzip1l",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123017",
                    "type": "synonym"
                }
            ],
            "record_id": "Q32PN7-1",
            "evidence": [
                {
                    "id": "0080273",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080273"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q499E4-1",
            "uniprot_ac": "Q499E4",
            "uniprot_id": "DZI1L_MOUSE",
            "refseq_ac": "NP_001298071",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilium assembly protein DZIP1L",
                    "type": "recommended"
                },
                {
                    "name": "DAZ-interacting protein 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "DAZ-interacting zinc finger protein 1-like",
                    "type": "synonym"
                },
                {
                    "name": "Protein warpy",
                    "type": "synonym"
                },
                {
                    "name": "cilium assembly protein DZIP1L isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "cilium assembly protein DZIP1L",
                    "type": "synonym"
                },
                {
                    "name": "protein warpy",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein DZIP1L",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dzip1l",
                    "type": "recommended"
                },
                {
                    "name": "2610524A10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dzip1l",
                    "type": "synonym"
                },
                {
                    "name": "wpy",
                    "type": "synonym"
                }
            ],
            "record_id": "Q499E4-1",
            "evidence": [
                {
                    "id": "0080273",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080273"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IYY4-1",
            "uniprot_ac": "Q8IYY4",
            "uniprot_id": "DZI1L_HUMAN",
            "refseq_ac": "NP_001164009",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilium assembly protein DZIP1L",
                    "type": "recommended"
                },
                {
                    "name": "DAZ interacting protein 1-like",
                    "type": "synonym"
                },
                {
                    "name": "DAZ-interacting protein 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "DAZ-interacting zinc finger protein 1-like",
                    "type": "synonym"
                },
                {
                    "name": "cilium assembly protein DZIP1L isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "cilium assembly protein DZIP1L",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein DZIP1L",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DZIP1L",
                    "type": "recommended"
                },
                {
                    "name": "DZIP1L",
                    "type": "synonym"
                },
                {
                    "name": "DZIP2",
                    "type": "synonym"
                },
                {
                    "name": "PKD5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IYY4-1",
            "evidence": [
                {
                    "id": "617610",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617610"
                },
                {
                    "id": "0080273",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080273"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XIA0-1",
            "uniprot_ac": "Q5XIA0",
            "uniprot_id": "DZI1L_RAT",
            "refseq_ac": "NP_001014117",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilium assembly protein DZIP1L",
                    "type": "recommended"
                },
                {
                    "name": "DAZ interacting protein 1-like",
                    "type": "synonym"
                },
                {
                    "name": "DAZ-interacting protein 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "DAZ-interacting zinc finger protein 1-like",
                    "type": "synonym"
                },
                {
                    "name": "cilium assembly protein DZIP1L",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein DZIP1L",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dzip1l",
                    "type": "recommended"
                },
                {
                    "name": "Dzip1l",
                    "type": "synonym"
                },
                {
                    "name": "RGD1311430",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XIA0-1",
            "evidence": [
                {
                    "id": "0080273",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080273"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VC70-1",
            "uniprot_ac": "Q9VC70",
            "uniprot_id": "DZIP1_DROME",
            "refseq_ac": "NP_001262918",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilium assembly protein DZIP1L",
                    "type": "recommended"
                },
                {
                    "name": "CG13617-PB",
                    "type": "synonym"
                },
                {
                    "name": "DAZ-interacting zinc finger protein 1-like",
                    "type": "synonym"
                },
                {
                    "name": "DZIP1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "DZIP1-PB",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein DZIP1",
                    "type": "synonym"
                },
                {
                    "name": "iguana",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DZIP1",
                    "type": "recommended"
                },
                {
                    "name": "CG13617",
                    "type": "synonym"
                },
                {
                    "name": "DZIP1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13617",
                    "type": "synonym"
                },
                {
                    "name": "Dzip1",
                    "type": "synonym"
                },
                {
                    "name": "dzip1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VC70-1",
            "evidence": [
                {
                    "id": "0080273",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080273"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080273"
}