{
    "disease_id": "DOID:0080247",
    "recommended_name": {
        "id": "DOID:0080247",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080247",
        "name": "Galloway-Mowat syndrome 5",
        "description": "A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0033009",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033009",
            "name": "Galloway-Mowat syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0033009",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033009",
            "name": "Galloway-Mowat syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0033009",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033009",
            "name": "GAMOS5",
            "description": ""
        },
        {
            "id": "MIM:617731",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617731",
            "name": "Galloway-Mowat syndrome 5",
            "description": "Galloway-Mowat syndrome 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080247"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080247",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080247",
            "categories": []
        },
        {
            "id": "MONDO:0033009",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033009",
            "categories": []
        },
        {
            "id": "MIM:617731",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617731",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QZ15-1",
            "uniprot_ac": "F1QZ15",
            "uniprot_id": "TPRKB_DANRE",
            "refseq_ac": "NP_001007374",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "EKC/KEOPS complex subunit TPRKB",
                    "type": "recommended"
                },
                {
                    "name": "EKC/KEOPS complex subunit TPRKB",
                    "type": "synonym"
                },
                {
                    "name": "PRPK-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TP53RK-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tprkb",
                    "type": "recommended"
                },
                {
                    "name": "tprkb",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101896",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QZ15-1",
            "evidence": [
                {
                    "id": "0080247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080247"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8QZZ7-1",
            "uniprot_ac": "Q8QZZ7",
            "uniprot_id": "TPRKB_MOUSE",
            "refseq_ac": "NP_001163959",
            "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 Tprkb",
                    "type": "recommended"
                },
                {
                    "name": "EKC/KEOPS complex subunit Tprkb isoform a",
                    "type": "synonym"
                },
                {
                    "name": "EKC/KEOPS complex subunit Tprkb",
                    "type": "synonym"
                },
                {
                    "name": "PRPK-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Prpk (p53-related protein kinase)-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TP53RK-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tprkb",
                    "type": "recommended"
                },
                {
                    "name": "0610033G21Rik",
                    "type": "synonym"
                },
                {
                    "name": "1810034M08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cgi-121",
                    "type": "synonym"
                },
                {
                    "name": "DRWMS1",
                    "type": "synonym"
                },
                {
                    "name": "Tprkb",
                    "type": "synonym"
                },
                {
                    "name": "mDRWMS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8QZZ7-1",
            "evidence": [
                {
                    "id": "0080247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080247"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y3C4-1",
            "uniprot_ac": "Q9Y3C4",
            "uniprot_id": "TPRKB_HUMAN",
            "refseq_ac": "NP_001317315",
            "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 TPRKB",
                    "type": "recommended"
                },
                {
                    "name": "EKC/KEOPS complex subunit TPRKB isoform a",
                    "type": "synonym"
                },
                {
                    "name": "EKC/KEOPS complex subunit TPRKB",
                    "type": "synonym"
                },
                {
                    "name": "PRPK (p53-related protein kinase)-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "PRPK-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TP53RK-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TPRKB",
                    "type": "recommended"
                },
                {
                    "name": "CGI-121",
                    "type": "synonym"
                },
                {
                    "name": "CGI121",
                    "type": "synonym"
                },
                {
                    "name": "GAMOS5",
                    "type": "synonym"
                },
                {
                    "name": "My019",
                    "type": "synonym"
                },
                {
                    "name": "TPRKB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y3C4-1",
            "evidence": [
                {
                    "id": "617731",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617731"
                },
                {
                    "id": "0080247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080247"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03705-1",
            "uniprot_ac": "Q03705",
            "uniprot_id": "CG121_YEAST",
            "refseq_ac": "NP_013676",
            "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 CGI121",
                    "type": "recommended"
                },
                {
                    "name": "CGI-121 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Cgi121p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CGI121",
                    "type": "recommended"
                },
                {
                    "name": "CGI121",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03705-1",
            "evidence": [
                {
                    "id": "0080247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080247"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PQR8-1",
            "uniprot_ac": "Q5PQR8",
            "uniprot_id": "TPRKB_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "EKC/KEOPS complex subunit Tprkb",
                    "type": "recommended"
                },
                {
                    "name": "PRPK-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TP53RK-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tprkb",
                    "type": "recommended"
                }
            ],
            "record_id": "Q5PQR8-1",
            "evidence": [
                {
                    "id": "0080247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080247"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080247"
}