{
    "disease_id": "DOID:0080392",
    "recommended_name": {
        "id": "DOID:0080392",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080392",
        "name": "nephrotic syndrome type 17",
        "description": "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0032580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032580",
            "name": "nephrotic syndrome, type 17",
            "description": ""
        },
        {
            "id": "MONDO:0032580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032580",
            "name": "NPHS17",
            "description": ""
        },
        {
            "id": "MIM:618176",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618176",
            "name": "Nephrotic syndrome 17",
            "description": "Nephrotic syndrome 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080392"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080392",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080392",
            "categories": []
        },
        {
            "id": "MONDO:0032580",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032580",
            "categories": []
        },
        {
            "id": "MIM:618176",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618176",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DBY0-1",
            "uniprot_ac": "Q6DBY0",
            "uniprot_id": "NUP85_DANRE",
            "refseq_ac": "NP_001003625",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear pore complex protein Nup85",
                    "type": "recommended"
                },
                {
                    "name": "85 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup85",
                    "type": "synonym"
                },
                {
                    "name": "Pericentrin-1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup85",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin NUP85",
                    "type": "synonym"
                },
                {
                    "name": "pericentrin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nup85",
                    "type": "recommended"
                },
                {
                    "name": "nup85",
                    "type": "synonym"
                },
                {
                    "name": "pcnt1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100943",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DBY0-1",
            "evidence": [
                {
                    "id": "0080392",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080392"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R480-1",
            "uniprot_ac": "Q8R480",
            "uniprot_id": "NUP85_MOUSE",
            "refseq_ac": "NP_001002929",
            "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 Nup85",
                    "type": "recommended"
                },
                {
                    "name": "85 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "FROUNT",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup85",
                    "type": "synonym"
                },
                {
                    "name": "Pericentrin-1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup85",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup85",
                    "type": "synonym"
                },
                {
                    "name": "pericentrin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup85",
                    "type": "recommended"
                },
                {
                    "name": "Nup85",
                    "type": "synonym"
                },
                {
                    "name": "Pcnt1",
                    "type": "synonym"
                },
                {
                    "name": "frount",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R480-1",
            "evidence": [
                {
                    "id": "0080392",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080392"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BW27-1",
            "uniprot_ac": "Q9BW27",
            "uniprot_id": "NUP85_HUMAN",
            "refseq_ac": "NP_001290205",
            "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 Nup85",
                    "type": "recommended"
                },
                {
                    "name": "85 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "FROUNT",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup75",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup85",
                    "type": "synonym"
                },
                {
                    "name": "Pericentrin-1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup85 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup85",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 85kDa",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup75",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup85",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUP85",
                    "type": "recommended"
                },
                {
                    "name": "FROUNT",
                    "type": "synonym"
                },
                {
                    "name": "NPHS17",
                    "type": "synonym"
                },
                {
                    "name": "NUP75",
                    "type": "synonym"
                },
                {
                    "name": "NUP85",
                    "type": "synonym"
                },
                {
                    "name": "Nup75",
                    "type": "synonym"
                },
                {
                    "name": "PCNT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BW27-1",
            "evidence": [
                {
                    "id": "618176",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618176"
                },
                {
                    "id": "0080392",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080392"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46673-1",
            "uniprot_ac": "P46673",
            "uniprot_id": "NUP85_YEAST",
            "refseq_ac": "NP_012576",
            "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 NUP85",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear pore protein NUP85",
                    "type": "synonym"
                },
                {
                    "name": "Nup85p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUP85",
                    "type": "recommended"
                },
                {
                    "name": "J1624",
                    "type": "synonym"
                },
                {
                    "name": "NUP85",
                    "type": "synonym"
                },
                {
                    "name": "RAT9",
                    "type": "synonym"
                }
            ],
            "record_id": "P46673-1",
            "evidence": [
                {
                    "id": "0080392",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080392"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4QQS8-1",
            "uniprot_ac": "Q4QQS8",
            "uniprot_id": "NUP85_RAT",
            "refseq_ac": "NP_001020572",
            "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 Nup85",
                    "type": "recommended"
                },
                {
                    "name": "85 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup85",
                    "type": "synonym"
                },
                {
                    "name": "Pericentrin-1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup85",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 85kDa",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin NUP85",
                    "type": "synonym"
                },
                {
                    "name": "pericentrin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup85",
                    "type": "recommended"
                },
                {
                    "name": "Nup85",
                    "type": "synonym"
                },
                {
                    "name": "Pcnt1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4QQS8-1",
            "evidence": [
                {
                    "id": "0080392",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080392"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1YK02-1",
            "uniprot_ac": "A1YK02",
            "uniprot_id": "NUP75_DROME",
            "refseq_ac": "NP_611300",
            "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 Nup75",
                    "type": "recommended"
                },
                {
                    "name": "75 KDa Nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "CG5733-PA",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup75",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup85",
                    "type": "synonym"
                },
                {
                    "name": "Nup75-PA",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 75kD",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 75",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup75",
                    "type": "recommended"
                },
                {
                    "name": "CG5733",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5733",
                    "type": "synonym"
                },
                {
                    "name": "Nup 75",
                    "type": "synonym"
                },
                {
                    "name": "Nup75",
                    "type": "synonym"
                },
                {
                    "name": "nup75",
                    "type": "synonym"
                }
            ],
            "record_id": "A1YK02-1",
            "evidence": [
                {
                    "id": "0080392",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080392"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080392"
}