{
    "disease_id": "DOID:0080385",
    "recommended_name": {
        "id": "DOID:0080385",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080385",
        "name": "nephrotic syndrome type 11",
        "description": "A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15."
    },
    "synonyms": [
        {
            "id": "MONDO:0014752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014752",
            "name": "nephrotic syndrome, type 11",
            "description": "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene."
        },
        {
            "id": "MONDO:0014752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014752",
            "name": "NPHS11",
            "description": ""
        },
        {
            "id": "MONDO:0014752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014752",
            "name": "NUP107 familial nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014752",
            "name": "Nup107 familial nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014752",
            "name": "familial nephrotic syndrome caused by mutation in NUP107",
            "description": ""
        },
        {
            "id": "MONDO:0014752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014752",
            "name": "familial nephrotic syndrome caused by mutation in Nup107",
            "description": ""
        },
        {
            "id": "MONDO:0014752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014752",
            "name": "nephrotic syndrome, type 11",
            "description": ""
        },
        {
            "id": "MONDO:0014752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014752",
            "name": "nephrotic syndrome, type 11; NPHS11",
            "description": ""
        },
        {
            "id": "MIM:616730",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616730",
            "name": "Nephrotic syndrome 11",
            "description": "Nephrotic syndrome 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080385"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080385",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080385",
            "categories": []
        },
        {
            "id": "MONDO:0014752",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014752",
            "categories": []
        },
        {
            "id": "MIM:616730",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616730",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5RGI2-1",
            "uniprot_ac": "Q5RGI2",
            "uniprot_id": "Q5RGI2_DANRE",
            "refseq_ac": "NP_001025338",
            "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",
                    "type": "recommended"
                },
                {
                    "name": "nuclear pore complex protein Nup107",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nup107",
                    "type": "recommended"
                },
                {
                    "name": "nup107",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-27k7.3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152723",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RGI2-1",
            "evidence": [
                {
                    "id": "0080385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080385"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BH74-1",
            "uniprot_ac": "Q8BH74",
            "uniprot_id": "NU107_MOUSE",
            "refseq_ac": "NP_598771",
            "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 Nup107",
                    "type": "recommended"
                },
                {
                    "name": "107 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup107",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup107 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup107",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup107",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup107",
                    "type": "recommended"
                },
                {
                    "name": "Nup107",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BH74-1",
            "evidence": [
                {
                    "id": "0080385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080385"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P57740-1",
            "uniprot_ac": "P57740",
            "uniprot_id": "NU107_HUMAN",
            "refseq_ac": "NP_001317121",
            "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 Nup107",
                    "type": "recommended"
                },
                {
                    "name": "107 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup107",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup107 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup107",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 107kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUP107",
                    "type": "recommended"
                },
                {
                    "name": "GAMOS7",
                    "type": "synonym"
                },
                {
                    "name": "NPHS11",
                    "type": "synonym"
                },
                {
                    "name": "NUP107",
                    "type": "synonym"
                },
                {
                    "name": "NUP84",
                    "type": "synonym"
                },
                {
                    "name": "ODG6",
                    "type": "synonym"
                }
            ],
            "record_id": "P57740-1",
            "evidence": [
                {
                    "id": "616730",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616730"
                },
                {
                    "id": "0080385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080385"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52891-1",
            "uniprot_ac": "P52891",
            "uniprot_id": "NUP84_YEAST",
            "refseq_ac": "NP_010167",
            "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 NUP84",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear pore protein NUP84",
                    "type": "synonym"
                },
                {
                    "name": "Nup84p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUP84",
                    "type": "recommended"
                },
                {
                    "name": "NUP84",
                    "type": "synonym"
                }
            ],
            "record_id": "P52891-1",
            "evidence": [
                {
                    "id": "0080385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080385"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52590-1",
            "uniprot_ac": "P52590",
            "uniprot_id": "NU107_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": "Nuclear pore complex protein Nup107",
                    "type": "recommended"
                },
                {
                    "name": "107 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup107",
                    "type": "synonym"
                },
                {
                    "name": "p105",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup107",
                    "type": "recommended"
                }
            ],
            "record_id": "P52590-1",
            "evidence": [
                {
                    "id": "0080385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080385"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V466-1",
            "uniprot_ac": "Q9V466",
            "uniprot_id": "NU107_DROME",
            "refseq_ac": "NP_609446",
            "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 Nup107",
                    "type": "recommended"
                },
                {
                    "name": "CG6743-PA",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup107",
                    "type": "synonym"
                },
                {
                    "name": "Nup107-PA",
                    "type": "synonym"
                },
                {
                    "name": "Nup170",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 107kD",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 107",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup107",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD18761",
                    "type": "synonym"
                },
                {
                    "name": "CG6743",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6743",
                    "type": "synonym"
                },
                {
                    "name": "Nup 107",
                    "type": "synonym"
                },
                {
                    "name": "Nup107",
                    "type": "synonym"
                },
                {
                    "name": "Nup170",
                    "type": "synonym"
                },
                {
                    "name": "Nup",
                    "type": "synonym"
                },
                {
                    "name": "dmNup107",
                    "type": "synonym"
                },
                {
                    "name": "nup107",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V466-1",
            "evidence": [
                {
                    "id": "0080385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080385"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080385"
}