{
    "disease_id": "DOID:0080246",
    "recommended_name": {
        "id": "DOID:0080246",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080246",
        "name": "Galloway-Mowat syndrome 4",
        "description": "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0033008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033008",
            "name": "Galloway-Mowat syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0033008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033008",
            "name": "Galloway-Mowat syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0033008",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033008",
            "name": "GAMOS4",
            "description": ""
        },
        {
            "id": "MIM:617730",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617730",
            "name": "Galloway-Mowat syndrome 4",
            "description": "Galloway-Mowat syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080246"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080246",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080246",
            "categories": []
        },
        {
            "id": "MONDO:0033008",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033008",
            "categories": []
        },
        {
            "id": "MIM:617730",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617730",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QB90-1",
            "uniprot_ac": "F1QB90",
            "uniprot_id": "F1QB90_DANRE",
            "refseq_ac": "NP_001018386",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "EKC/KEOPS complex subunit TP53RK",
                    "type": "synonym"
                },
                {
                    "name": "Nori-2",
                    "type": "synonym"
                },
                {
                    "name": "TP53-regulating kinase",
                    "type": "synonym"
                },
                {
                    "name": "p53-related protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tp53rk",
                    "type": "recommended"
                },
                {
                    "name": "fd05d02",
                    "type": "synonym"
                },
                {
                    "name": "tp53rk",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd05d02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110000",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QB90-1",
            "evidence": [
                {
                    "id": "0080246",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080246"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99PW4-1",
            "uniprot_ac": "Q99PW4",
            "uniprot_id": "PRPKB_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "EKC/KEOPS complex subunit Tp53rkb",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "3.6.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Atypical serine/threonine protein kinase Tp53rk",
                    "type": "synonym"
                },
                {
                    "name": "EKC/KEOPS complex subunit Tp53rk",
                    "type": "synonym"
                },
                {
                    "name": "Nori-2",
                    "type": "synonym"
                },
                {
                    "name": "TP53-regulating kinase",
                    "type": "synonym"
                },
                {
                    "name": "p53-related protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tp53rkb",
                    "type": "recommended"
                },
                {
                    "name": "Trp53rkb",
                    "type": "recommended"
                },
                {
                    "name": "Prpk",
                    "type": "synonym"
                },
                {
                    "name": "Tp53rk",
                    "type": "synonym"
                },
                {
                    "name": "Trp53rkb",
                    "type": "synonym"
                },
                {
                    "name": "Trp53rk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99PW4-1",
            "evidence": [
                {
                    "id": "0080246",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080246"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96S44-1",
            "uniprot_ac": "Q96S44",
            "uniprot_id": "PRPK_HUMAN",
            "refseq_ac": "NP_291028",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "EKC/KEOPS complex subunit TP53RK",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "3.6.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Atypical serine/threonine protein kinase TP53RK",
                    "type": "synonym"
                },
                {
                    "name": "EKC/KEOPS complex subunit TP53RK",
                    "type": "synonym"
                },
                {
                    "name": "Nori-2",
                    "type": "synonym"
                },
                {
                    "name": "TP53-regulating kinase",
                    "type": "synonym"
                },
                {
                    "name": "atypical serine/threonine protein kinase TP53RK",
                    "type": "synonym"
                },
                {
                    "name": "p53-related protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TP53RK",
                    "type": "recommended"
                },
                {
                    "name": "BUD32",
                    "type": "synonym"
                },
                {
                    "name": "C20orf64",
                    "type": "synonym"
                },
                {
                    "name": "GAMOS4",
                    "type": "synonym"
                },
                {
                    "name": "Nori-2p",
                    "type": "synonym"
                },
                {
                    "name": "Nori-2",
                    "type": "synonym"
                },
                {
                    "name": "PRPK",
                    "type": "synonym"
                },
                {
                    "name": "TP53RK",
                    "type": "synonym"
                },
                {
                    "name": "TPRKB",
                    "type": "synonym"
                },
                {
                    "name": "dJ101A2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96S44-1",
            "evidence": [
                {
                    "id": "617730",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617730"
                },
                {
                    "id": "0080246",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080246"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53323-1",
            "uniprot_ac": "P53323",
            "uniprot_id": "BUD32_YEAST",
            "refseq_ac": "NP_011778",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "EKC/KEOPS complex subunit BUD32",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "3.6.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Atypical serine/threonine protein kinase BUD32",
                    "type": "synonym"
                },
                {
                    "name": "Bud site selection protein 32",
                    "type": "synonym"
                },
                {
                    "name": "Low-dye-binding protein 14",
                    "type": "synonym"
                },
                {
                    "name": "piD261",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase BUD32",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BUD32",
                    "type": "recommended"
                },
                {
                    "name": "BUD32",
                    "type": "synonym"
                },
                {
                    "name": "LDB14",
                    "type": "synonym"
                }
            ],
            "record_id": "P53323-1",
            "evidence": [
                {
                    "id": "0080246",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080246"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZCD7-1",
            "uniprot_ac": "D3ZCD7",
            "uniprot_id": "D3ZCD7_RAT",
            "refseq_ac": "NP_001102076",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Nori-2",
                    "type": "synonym"
                },
                {
                    "name": "TP53 regulating kinase B",
                    "type": "synonym"
                },
                {
                    "name": "TP53 regulating kinase",
                    "type": "synonym"
                },
                {
                    "name": "TP53-regulating kinase",
                    "type": "synonym"
                },
                {
                    "name": "p53-related protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "transformation related protein 53 regulating kinase B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tp53rkb",
                    "type": "recommended"
                },
                {
                    "name": "Tp53rkb",
                    "type": "synonym"
                },
                {
                    "name": "Tp53rk",
                    "type": "synonym"
                },
                {
                    "name": "Trp53rkb",
                    "type": "synonym"
                },
                {
                    "name": "Trp53rk",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZCD7-1",
            "evidence": [
                {
                    "id": "0080246",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080246"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZL21-1",
            "uniprot_ac": "D3ZL21",
            "uniprot_id": "D3ZL21_RAT",
            "refseq_ac": "NP_001386770",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "EKC/KEOPS complex subunit TP53RK",
                    "type": "synonym"
                },
                {
                    "name": "Nori-2",
                    "type": "synonym"
                },
                {
                    "name": "TP53-regulating kinase (p53-related protein kinase) (Nori-2)",
                    "type": "synonym"
                },
                {
                    "name": "TP53-regulating kinase",
                    "type": "synonym"
                },
                {
                    "name": "p53-related protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "rCG32187-like",
                    "type": "synonym"
                },
                {
                    "name": "transformation related protein 53 regulating kinase A",
                    "type": "synonym"
                },
                {
                    "name": "tumor protein p53 regulating kinase A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tp53rka",
                    "type": "recommended"
                },
                {
                    "name": "LOC685619",
                    "type": "synonym"
                },
                {
                    "name": "Tp53rka",
                    "type": "synonym"
                },
                {
                    "name": "Trp53rka",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZL21-1",
            "evidence": [
                {
                    "id": "0080246",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080246"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRJ6-1",
            "uniprot_ac": "Q9VRJ6",
            "uniprot_id": "Q9VRJ6_DROME",
            "refseq_ac": "NP_647948",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG10673-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tcs5-PA",
                    "type": "synonym"
                },
                {
                    "name": "Threonyl-carbamoyl synthesis 5",
                    "type": "synonym"
                },
                {
                    "name": "p53-related protein kinase ortholog",
                    "type": "synonym"
                },
                {
                    "name": "tRNA adenosine(37) threonylcarbamoyltransferase complex, ATPase subunit type 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tcs5",
                    "type": "recommended"
                },
                {
                    "name": "CG10673",
                    "type": "synonym"
                },
                {
                    "name": "Dm bud32",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10673",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10673",
                    "type": "synonym"
                },
                {
                    "name": "Prpk",
                    "type": "synonym"
                },
                {
                    "name": "Tcs5",
                    "type": "synonym"
                },
                {
                    "name": "dPrpk",
                    "type": "synonym"
                },
                {
                    "name": "tcs5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VRJ6-1",
            "evidence": [
                {
                    "id": "0080246",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080246"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080246"
}