{
    "disease_id": "DOID:0080387",
    "recommended_name": {
        "id": "DOID:0080387",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080387",
        "name": "nephrotic syndrome type 12",
        "description": "A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014817",
            "name": "nephrotic syndrome, type 12",
            "description": "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene."
        },
        {
            "id": "MONDO:0014817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014817",
            "name": "NPHS12",
            "description": ""
        },
        {
            "id": "MONDO:0014817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014817",
            "name": "NUP93 familial nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014817",
            "name": "familial nephrotic syndrome caused by mutation in NUP93",
            "description": ""
        },
        {
            "id": "MONDO:0014817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014817",
            "name": "nephrotic syndrome, type 12",
            "description": ""
        },
        {
            "id": "MONDO:0014817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014817",
            "name": "nephrotic syndrome, type 12; NPHS12",
            "description": ""
        },
        {
            "id": "MIM:616892",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616892",
            "name": "Nephrotic syndrome 12",
            "description": "Nephrotic syndrome 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080387"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080387",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080387",
            "categories": []
        },
        {
            "id": "MONDO:0014817",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014817",
            "categories": []
        },
        {
            "id": "MIM:616892",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616892",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZU29-1",
            "uniprot_ac": "Q7ZU29",
            "uniprot_id": "NUP93_DANRE",
            "refseq_ac": "NP_571056",
            "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 Nup93",
                    "type": "recommended"
                },
                {
                    "name": "93 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Dead eye protein",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup93",
                    "type": "synonym"
                },
                {
                    "name": "dead eye protein",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup93",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup93",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dye",
                    "type": "recommended"
                },
                {
                    "name": "nup93",
                    "type": "recommended"
                },
                {
                    "name": "dye",
                    "type": "synonym"
                },
                {
                    "name": "nup93",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZU29-1",
            "evidence": [
                {
                    "id": "0080387",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080387"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BJ71-1",
            "uniprot_ac": "Q8BJ71",
            "uniprot_id": "NUP93_MOUSE",
            "refseq_ac": "NP_765998",
            "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 Nup93",
                    "type": "recommended"
                },
                {
                    "name": "93 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "CBP-interacting protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup93",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup93 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup93",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup93",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup93",
                    "type": "recommended"
                },
                {
                    "name": "2410008G02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cip4",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0095",
                    "type": "synonym"
                },
                {
                    "name": "Nup93",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BJ71-1",
            "evidence": [
                {
                    "id": "0080387",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080387"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N1F7-1",
            "uniprot_ac": "Q8N1F7",
            "uniprot_id": "NUP93_HUMAN",
            "refseq_ac": "NP_001229724",
            "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 Nup93",
                    "type": "recommended"
                },
                {
                    "name": "93 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup93",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup93 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup93",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 93kDa",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup93",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUP93",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0095",
                    "type": "synonym"
                },
                {
                    "name": "NIC96",
                    "type": "synonym"
                },
                {
                    "name": "NUP93",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N1F7-1",
            "evidence": [
                {
                    "id": "616892",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616892"
                },
                {
                    "id": "0080387",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080387"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P34077-1",
            "uniprot_ac": "P34077",
            "uniprot_id": "NIC96_YEAST",
            "refseq_ac": "NP_116657",
            "glycoprotein": "yes",
            "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 NIC96",
                    "type": "recommended"
                },
                {
                    "name": "96 kDa nucleoporin-interacting component",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear pore protein NIC96",
                    "type": "synonym"
                },
                {
                    "name": "linker nucleoporin NIC96",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NIC96",
                    "type": "recommended"
                },
                {
                    "name": "NIC96",
                    "type": "synonym"
                }
            ],
            "record_id": "P34077-1",
            "evidence": [
                {
                    "id": "0080387",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080387"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66HC5-1",
            "uniprot_ac": "Q66HC5",
            "uniprot_id": "NUP93_RAT",
            "refseq_ac": "NP_001011925",
            "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 Nup93",
                    "type": "recommended"
                },
                {
                    "name": "93 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup93",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup93",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 93kDa",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup93",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup93",
                    "type": "recommended"
                },
                {
                    "name": "Nup93",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66HC5-1",
            "evidence": [
                {
                    "id": "0080387",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080387"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VFE7-1",
            "uniprot_ac": "Q9VFE7",
            "uniprot_id": "Q9VFE7_DROME",
            "refseq_ac": "NP_650404",
            "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 protein",
                    "type": "recommended"
                },
                {
                    "name": "CG7262-PA",
                    "type": "synonym"
                },
                {
                    "name": "Nup93-2-PA",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 93kD-2",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 93",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup93-2",
                    "type": "recommended"
                },
                {
                    "name": "CG7262",
                    "type": "synonym"
                },
                {
                    "name": "Cg7262",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7262",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7262",
                    "type": "synonym"
                },
                {
                    "name": "Nup93-2",
                    "type": "synonym"
                },
                {
                    "name": "Nup93-like",
                    "type": "synonym"
                },
                {
                    "name": "Nup93",
                    "type": "synonym"
                },
                {
                    "name": "nup93-2",
                    "type": "synonym"
                },
                {
                    "name": "nup93",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VFE7-1",
            "evidence": [
                {
                    "id": "0080387",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080387"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9XZ06-1",
            "uniprot_ac": "Q9XZ06",
            "uniprot_id": "NU931_DROME",
            "refseq_ac": "NP_572929",
            "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 Nup93-1",
                    "type": "recommended"
                },
                {
                    "name": "CG11092-PA",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin 93kD-1",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup93-1",
                    "type": "synonym"
                },
                {
                    "name": "Nup93-1-PA",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 93kD-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup93-1",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD21129",
                    "type": "synonym"
                },
                {
                    "name": "CG11092",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11092",
                    "type": "synonym"
                },
                {
                    "name": "Nup93-1",
                    "type": "synonym"
                },
                {
                    "name": "Nup93",
                    "type": "synonym"
                },
                {
                    "name": "nup93-1",
                    "type": "synonym"
                },
                {
                    "name": "nup93",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9XZ06-1",
            "evidence": [
                {
                    "id": "0080387",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080387"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080387"
}