{
    "disease_id": "DOID:0080381",
    "recommended_name": {
        "id": "DOID:0080381",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080381",
        "name": "nephrotic syndrome type 13",
        "description": "A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the NUP205 gene on chromosome 7q33."
    },
    "synonyms": [
        {
            "id": "MONDO:0014818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014818",
            "name": "nephrotic syndrome, type 13",
            "description": "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene."
        },
        {
            "id": "MONDO:0014818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014818",
            "name": "NPHS13",
            "description": ""
        },
        {
            "id": "MONDO:0014818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014818",
            "name": "NUP205 familial nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014818",
            "name": "familial nephrotic syndrome caused by mutation in NUP205",
            "description": ""
        },
        {
            "id": "MONDO:0014818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014818",
            "name": "nephrotic syndrome, type 13",
            "description": ""
        },
        {
            "id": "MONDO:0014818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014818",
            "name": "nephrotic syndrome, type 13; NPHS13",
            "description": ""
        },
        {
            "id": "MIM:616893",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616893",
            "name": "Nephrotic syndrome 13",
            "description": "Nephrotic syndrome 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080381"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080381",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080381",
            "categories": []
        },
        {
            "id": "MONDO:0014818",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014818",
            "categories": []
        },
        {
            "id": "MIM:616893",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616893",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PFD6-1",
            "uniprot_ac": "A0A8M9PFD6",
            "uniprot_id": "A0A8M9PFD6_DANRE",
            "refseq_ac": "XP_021323309",
            "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 Nup205 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup205 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nup205",
                    "type": "recommended"
                },
                {
                    "name": "nup205",
                    "type": "synonym"
                },
                {
                    "name": "zgc:111802",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PFD6-1",
            "evidence": [
                {
                    "id": "0080381",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080381"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92621-1",
            "uniprot_ac": "Q92621",
            "uniprot_id": "NU205_HUMAN",
            "refseq_ac": "NP_055950",
            "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 Nup205",
                    "type": "recommended"
                },
                {
                    "name": "205 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup205",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup205 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup205",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup205",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUP205",
                    "type": "recommended"
                },
                {
                    "name": "C7orf14",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0225",
                    "type": "synonym"
                },
                {
                    "name": "NPHS13",
                    "type": "synonym"
                },
                {
                    "name": "NUP205",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92621-1",
            "evidence": [
                {
                    "id": "616893",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616893"
                },
                {
                    "id": "0080381",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080381"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47054-1",
            "uniprot_ac": "P47054",
            "uniprot_id": "NU192_YEAST",
            "refseq_ac": "NP_012495",
            "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 NUP192",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear pore protein NUP192",
                    "type": "synonym"
                },
                {
                    "name": "Nup192p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUP192",
                    "type": "recommended"
                },
                {
                    "name": "J1216",
                    "type": "synonym"
                },
                {
                    "name": "NUP192",
                    "type": "synonym"
                }
            ],
            "record_id": "P47054-1",
            "evidence": [
                {
                    "id": "0080381",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080381"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZJ67-1",
            "uniprot_ac": "A0A8I5ZJ67",
            "uniprot_id": "A0A8I5ZJ67_RAT",
            "refseq_ac": "XP_038963704",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleoporin 205",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup205 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup205",
                    "type": "recommended"
                },
                {
                    "name": "Nup205",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZJ67-1",
            "evidence": [
                {
                    "id": "0080381",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080381"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IQV9-1",
            "uniprot_ac": "Q8IQV9",
            "uniprot_id": "NU205_DROME",
            "refseq_ac": "NP_608362",
            "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 Nup205",
                    "type": "recommended"
                },
                {
                    "name": "205 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "CG11943-PA",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup205",
                    "type": "synonym"
                },
                {
                    "name": "Nup205-PA",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 205kD, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 205",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup205",
                    "type": "recommended"
                },
                {
                    "name": "CG11943",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11943",
                    "type": "synonym"
                },
                {
                    "name": "Nup205",
                    "type": "synonym"
                },
                {
                    "name": "Ov4",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey281",
                    "type": "synonym"
                },
                {
                    "name": "nup205",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IQV9-1",
            "evidence": [
                {
                    "id": "0080381",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080381"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080381"
}