{
    "disease_id": "DOID:0080394",
    "recommended_name": {
        "id": "DOID:0080394",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080394",
        "name": "nephrotic syndrome type 19",
        "description": "A familial nephrotic syndrome that has_material_basis_in compound heterozygous mutation in the NUP160 gene on chromosome 11p11."
    },
    "synonyms": [
        {
            "id": "MONDO:0032582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032582",
            "name": "nephrotic syndrome, type 19",
            "description": ""
        },
        {
            "id": "MONDO:0032582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032582",
            "name": "NPHS19",
            "description": ""
        },
        {
            "id": "MIM:618178",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618178",
            "name": "Nephrotic syndrome 19",
            "description": "Nephrotic syndrome 19"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080394"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080394",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080394",
            "categories": []
        },
        {
            "id": "MONDO:0032582",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032582",
            "categories": []
        },
        {
            "id": "MIM:618178",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618178",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TC69-1",
            "uniprot_ac": "A0AB32TC69",
            "uniprot_id": "A0AB32TC69_DANRE",
            "refseq_ac": "NP_001410773",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear pore complex protein Nup160",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup160",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nup160",
                    "type": "recommended"
                },
                {
                    "name": "nup160",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66306",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TC69-1",
            "evidence": [
                {
                    "id": "0080394",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080394"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z0W3-1",
            "uniprot_ac": "Q9Z0W3",
            "uniprot_id": "NU160_MOUSE",
            "refseq_ac": "NP_067487",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear pore complex protein Nup160",
                    "type": "recommended"
                },
                {
                    "name": "160 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "GTL-13",
                    "type": "synonym"
                },
                {
                    "name": "Gene trap locus 1-13 protein",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup160",
                    "type": "synonym"
                },
                {
                    "name": "gene trap locus 1-13 protein",
                    "type": "synonym"
                },
                {
                    "name": "gene trap locus-13",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup160 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup160",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 160kDa",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup160",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup160",
                    "type": "recommended"
                },
                {
                    "name": "160kDa",
                    "type": "synonym"
                },
                {
                    "name": "2810011M03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gtl-13",
                    "type": "synonym"
                },
                {
                    "name": "Gtl1-13",
                    "type": "synonym"
                },
                {
                    "name": "Gtl13",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0197",
                    "type": "synonym"
                },
                {
                    "name": "Nup160",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0197",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0W3-1",
            "evidence": [
                {
                    "id": "0080394",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080394"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12769-1",
            "uniprot_ac": "Q12769",
            "uniprot_id": "NU160_HUMAN",
            "refseq_ac": "NP_001305328",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear pore complex protein Nup160",
                    "type": "recommended"
                },
                {
                    "name": "160 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup160",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup160 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup160",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 160kDa",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 160kD",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup160",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUP160",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0197",
                    "type": "synonym"
                },
                {
                    "name": "NPHS19",
                    "type": "synonym"
                },
                {
                    "name": "NUP120",
                    "type": "synonym"
                },
                {
                    "name": "NUP160",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12769-1",
            "evidence": [
                {
                    "id": "618178",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618178"
                },
                {
                    "id": "0080394",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080394"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35729-1",
            "uniprot_ac": "P35729",
            "uniprot_id": "NU120_YEAST",
            "refseq_ac": "NP_012866",
            "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 NUP120",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear pore protein NUP120",
                    "type": "synonym"
                },
                {
                    "name": "Nup120p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUP120",
                    "type": "recommended"
                },
                {
                    "name": "NUP120",
                    "type": "synonym"
                },
                {
                    "name": "RAT2",
                    "type": "synonym"
                },
                {
                    "name": "YKL313",
                    "type": "synonym"
                },
                {
                    "name": "YKL314",
                    "type": "synonym"
                }
            ],
            "record_id": "P35729-1",
            "evidence": [
                {
                    "id": "0080394",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080394"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZBL6-1",
            "uniprot_ac": "D3ZBL6",
            "uniprot_id": "D3ZBL6_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": "Nucleoporin 160",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup160",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZBL6-1",
            "evidence": [
                {
                    "id": "0080394",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080394"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKJ3-1",
            "uniprot_ac": "Q9VKJ3",
            "uniprot_id": "NU160_DROME",
            "refseq_ac": "NP_001285832",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear pore complex protein Nup160 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG4738-PB",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear pore protein 160",
                    "type": "synonym"
                },
                {
                    "name": "Nup160-PB",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) SH2055",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore protein 160",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 160kD, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 160",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup160",
                    "type": "recommended"
                },
                {
                    "name": "CG4738",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4738",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4738",
                    "type": "synonym"
                },
                {
                    "name": "Nup160[mel]",
                    "type": "synonym"
                },
                {
                    "name": "Nup160",
                    "type": "synonym"
                },
                {
                    "name": "Nup",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH2 2055",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH2055",
                    "type": "synonym"
                },
                {
                    "name": "nup160",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKJ3-1",
            "evidence": [
                {
                    "id": "0080394",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080394"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080394"
}