{
    "disease_id": "DOID:0051081",
    "recommended_name": {
        "id": "DOID:0051081",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051081",
        "name": "polycystic kidney disease 8",
        "description": "An autosomal dominant polycystic kidney disease that is characterized by enlarged kidneys, arterial hypertension, and kidney failure and that has_material_basis_in heterozygous mutation in the NEK8 gene on chromosome 17q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0971178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0971178",
            "name": "polycystic kidney disease 8",
            "description": ""
        },
        {
            "id": "MIM:620903",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620903",
            "name": "Polycystic kidney disease 8",
            "description": "Polycystic kidney disease 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051081"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051081",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051081",
            "categories": []
        },
        {
            "id": "MONDO:0971178",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0971178",
            "categories": []
        },
        {
            "id": "MIM:620903",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620903",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q86SG6-1",
            "uniprot_ac": "Q86SG6",
            "uniprot_id": "NEK8_HUMAN",
            "refseq_ac": "NP_835464",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Nek8",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "NIMA (never in mitosis gene a)- related kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "NIMA-family kinase NEK8",
                    "type": "synonym"
                },
                {
                    "name": "NIMA-related kinase 12a",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related protein kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "Nima-related protein kinase 12a",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin 9",
                    "type": "synonym"
                },
                {
                    "name": "never in mitosis A-related kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "nimA-related protein kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "nima-related protein kinase 12a",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek8",
                    "type": "synonym"
                },
                {
                    "name": "serine/thrionine-protein kinase NEK8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEK8",
                    "type": "recommended"
                },
                {
                    "name": "JCK",
                    "type": "synonym"
                },
                {
                    "name": "NEK12A",
                    "type": "synonym"
                },
                {
                    "name": "NEK8",
                    "type": "synonym"
                },
                {
                    "name": "NPHP9",
                    "type": "synonym"
                },
                {
                    "name": "PKD8",
                    "type": "synonym"
                },
                {
                    "name": "RHPD2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86SG6-1",
            "evidence": [
                {
                    "id": "620903",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620903"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051081"
}