{
    "disease_id": "DOID:0060364",
    "recommended_name": {
        "id": "DOID:0060364",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060364",
        "name": "Galloway-Mowat syndrome 1",
        "description": "A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25."
    },
    "synonyms": [
        {
            "id": "DOID:0060364",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060364",
            "name": "Galloway syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060364",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060364",
            "name": "microcephaly, hiatal hernia and nephrotic syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060364",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060364",
            "name": "nephrosis-microcephaly syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060364",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060364",
            "name": "nephrosis-neuronal dysmigration syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060364",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060364",
            "name": "SCAR5",
            "description": ""
        },
        {
            "id": "DOID:0060364",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060364",
            "name": "autosomal recessive spinocerebellar ataxia 5",
            "description": ""
        },
        {
            "id": "MONDO:0033005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033005",
            "name": "Galloway-Mowat syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0033005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033005",
            "name": "Galloway-Mowat syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0033005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033005",
            "name": "GAMOS1",
            "description": ""
        },
        {
            "id": "MONDO:0033005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033005",
            "name": "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0033005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033005",
            "name": "spinocerebellar ataxia, autosomal recessive 5",
            "description": ""
        },
        {
            "id": "MIM:251300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/251300",
            "name": "Galloway-Mowat syndrome 1",
            "description": "Galloway-Mowat syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060364"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060364",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060364",
            "categories": []
        },
        {
            "id": "MONDO:0033005",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033005",
            "categories": []
        },
        {
            "id": "MIM:251300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/251300",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "F1QNV4",
            "uniprot_id": "NU133_DANRE",
            "refseq_ac": "NP_998696",
            "glycoprotein": "yes",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear pore complex protein Nup133",
                    "type": "recommended"
                },
                {
                    "name": "Nucleoporin 133",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup133",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "nup133",
                    "type": "recommended"
                },
                {
                    "name": "nup133",
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                },
                {
                    "name": "wu:fa04e09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55311",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060364",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060364"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q567G2-1",
            "uniprot_ac": "Q567G2",
            "uniprot_id": "WDR73_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Integrator complex assembly factor WDR73",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 73",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "wdr73",
                    "type": "recommended"
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                {
                    "name": "zgc:112071",
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            ],
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                    "id": "0060364",
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        },
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            "uniprot_ac": "Q9CWR1",
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                    "name": "Mus musculus",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Integrator complex assembly factor WDR73",
                    "type": "recommended"
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                    "type": "synonym"
                }
            ],
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                {
                    "name": "Wdr73",
                    "type": "recommended"
                },
                {
                    "name": "1200011I23Rik",
                    "type": "synonym"
                },
                {
                    "name": "2410008B13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Wdr73",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060364",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060364"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R0G9-1",
            "uniprot_ac": "Q8R0G9",
            "uniprot_id": "NU133_MOUSE",
            "refseq_ac": "NP_758492",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear pore complex protein Nup133",
                    "type": "recommended"
                },
                {
                    "name": "133 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup133",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup133",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup133",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup133",
                    "type": "recommended"
                },
                {
                    "name": "Nup133",
                    "type": "synonym"
                },
                {
                    "name": "mermaid",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R0G9-1",
            "evidence": [
                {
                    "id": "0060364",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060364"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P4I2-1",
            "uniprot_ac": "Q6P4I2",
            "uniprot_id": "WDR73_HUMAN",
            "refseq_ac": "NP_116245",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Integrator complex assembly factor WDR73",
                    "type": "recommended"
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                    "name": "FLJ00296 protein",
                    "type": "synonym"
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                {
                    "name": "WD repeat-containing protein 73",
                    "type": "synonym"
                },
                {
                    "name": "integrator complex assembly factor WDR73",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WDR73",
                    "type": "recommended"
                },
                {
                    "name": "GAMOS1",
                    "type": "synonym"
                },
                {
                    "name": "GAMOS",
                    "type": "synonym"
                },
                {
                    "name": "HSPC264",
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                },
                {
                    "name": "WDR73",
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                }
            ],
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                {
                    "id": "0060364",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060364"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36161-1",
            "uniprot_ac": "P36161",
            "uniprot_id": "NU133_YEAST",
            "refseq_ac": "NP_013008",
            "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": "Nucleoporin NUP133",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear pore protein NUP133",
                    "type": "synonym"
                },
                {
                    "name": "Nup133p",
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                }
            ],
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                {
                    "name": "NUP133",
                    "type": "recommended"
                },
                {
                    "name": "NUP133",
                    "type": "synonym"
                },
                {
                    "name": "RAT3",
                    "type": "synonym"
                },
                {
                    "name": "YKR402",
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                }
            ],
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                {
                    "id": "0060364",
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            ]
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        {
            "uniprot_canonical_ac": "A0ABK0LB16-1",
            "uniprot_ac": "A0ABK0LB16",
            "uniprot_id": "A0ABK0LB16_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                {
                    "name": "WD repeat domain 73",
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                    "name": "Wdr73",
                    "type": "recommended"
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                    "id": "0060364",
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                    "name": "Nuclear pore complex protein Nup133",
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                {
                    "name": "133 kDa nucleoporin",
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                    "name": "Nucleoporin Nup133",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
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                }
            ],
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                    "name": "Nuclear pore complex protein Nup133",
                    "type": "recommended"
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                    "type": "synonym"
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                    "name": "CG6958-PA",
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                    "name": "Nup133-PA",
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                    "name": "nucleoporin 133kD",
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                    "name": "nucleoporin 133",
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                    "id": "0060364",
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                }
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                    "name": "Homo sapiens",
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                }
            ],
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                    "name": "Nuclear pore complex protein Nup133",
                    "type": "recommended"
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                    "name": "133 kDa nucleoporin",
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                    "name": "Nucleoporin Nup133",
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                    "name": "nuclear pore complex protein Nup133",
                    "type": "synonym"
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                {
                    "name": "nucleoporin 133kDa",
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                    "name": "nucleoporin Nup133",
                    "type": "synonym"
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                    "name": "NUP133",
                    "type": "recommended"
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                    "name": "NPHS18",
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                    "id": "0060364",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060364"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060364"
}