{
    "disease_id": "DOID:0080390",
    "recommended_name": {
        "id": "DOID:0080390",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080390",
        "name": "nephrotic syndrome type 1",
        "description": "A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080390",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080390",
            "name": "Finnish congenital nephrosis",
            "description": ""
        },
        {
            "id": "MONDO:0009732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009732",
            "name": "congenital nephrotic syndrome, Finnish type",
            "description": "Congenital nephrotic syndrome, Finnish type is characterized by protein loss beginning during fetal life."
        },
        {
            "id": "MONDO:0009732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009732",
            "name": "Finnish congenital nephrosis",
            "description": ""
        },
        {
            "id": "MONDO:0009732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009732",
            "name": "congenital nephrotic syndrome - Finnish type",
            "description": ""
        },
        {
            "id": "MONDO:0009732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009732",
            "name": "congenital nephrotic syndrome, Finnish type",
            "description": ""
        },
        {
            "id": "MONDO:0009732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009732",
            "name": "nephrotic syndrome - NPHS1 associated",
            "description": ""
        },
        {
            "id": "MONDO:0009732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009732",
            "name": "CnF",
            "description": ""
        },
        {
            "id": "MONDO:0009732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009732",
            "name": "NPHS1",
            "description": ""
        },
        {
            "id": "MONDO:0009732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009732",
            "name": "congenital nephrotic syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009732",
            "name": "congenital nephrotic syndrome Finnish type",
            "description": ""
        },
        {
            "id": "MONDO:0009732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009732",
            "name": "nephrosis 1, congenital, Finnish type",
            "description": ""
        },
        {
            "id": "MONDO:0009732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009732",
            "name": "nephrosis, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0009732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009732",
            "name": "nephrotic syndrome, type 1",
            "description": ""
        },
        {
            "id": "MIM:256300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256300",
            "name": "Nephrotic syndrome 1",
            "description": "Nephrotic syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080390"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080390",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080390",
            "categories": []
        },
        {
            "id": "MONDO:0009732",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009732",
            "categories": []
        },
        {
            "id": "MIM:256300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/256300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T986-1",
            "uniprot_ac": "A0AB32T986",
            "uniprot_id": "A0AB32T986_DANRE",
            "refseq_ac": "XP_068071471",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "C-C motif chemokine",
                    "type": "recommended"
                },
                {
                    "name": "C-C motif chemokine 38a.3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ccl38.6",
                    "type": "recommended"
                },
                {
                    "name": "ccl38a.3",
                    "type": "recommended"
                },
                {
                    "name": "CCL-chr20b",
                    "type": "synonym"
                },
                {
                    "name": "CCL-chr20e",
                    "type": "synonym"
                },
                {
                    "name": "CCL38ac",
                    "type": "synonym"
                },
                {
                    "name": "CCL38af",
                    "type": "synonym"
                },
                {
                    "name": "ccl38.6",
                    "type": "synonym"
                },
                {
                    "name": "ccl38a.3",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-59a8.1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-59a8.5",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj16d01",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T986-1",
            "evidence": [
                {
                    "id": "0080390",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080390"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZS7-1",
            "uniprot_ac": "Q9QZS7",
            "uniprot_id": "NPHN_MOUSE",
            "refseq_ac": "NP_062332",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrin",
                    "type": "recommended"
                },
                {
                    "name": "Renal glomerulus-specific cell adhesion receptor",
                    "type": "synonym"
                },
                {
                    "name": "nephrin 1",
                    "type": "synonym"
                },
                {
                    "name": "nephrin precursor",
                    "type": "synonym"
                },
                {
                    "name": "nephrosis 1 homolog, nephrin",
                    "type": "synonym"
                },
                {
                    "name": "renal glomerulus-specific cell adhesion receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nphs1",
                    "type": "recommended"
                },
                {
                    "name": "NephrinB",
                    "type": "synonym"
                },
                {
                    "name": "Nphn",
                    "type": "synonym"
                },
                {
                    "name": "Nphs1",
                    "type": "synonym"
                },
                {
                    "name": "nephrin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZS7-1",
            "evidence": [
                {
                    "id": "0080390",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080390"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48298-1",
            "uniprot_ac": "P48298",
            "uniprot_id": "CCL11_MOUSE",
            "refseq_ac": "NP_035460",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eotaxin",
                    "type": "recommended"
                },
                {
                    "name": "C-C motif chemokine 11",
                    "type": "synonym"
                },
                {
                    "name": "Eosinophil chemotactic protein",
                    "type": "synonym"
                },
                {
                    "name": "Small-inducible cytokine A11",
                    "type": "synonym"
                },
                {
                    "name": "eosinophil chemotactic protein",
                    "type": "synonym"
                },
                {
                    "name": "eotaxin precursor",
                    "type": "synonym"
                },
                {
                    "name": "small chemokine (C-C motif) ligand 11",
                    "type": "synonym"
                },
                {
                    "name": "small-inducible cytokine A11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccl11",
                    "type": "recommended"
                },
                {
                    "name": "Ccl11",
                    "type": "synonym"
                },
                {
                    "name": "Scya11",
                    "type": "synonym"
                },
                {
                    "name": "eotaxin",
                    "type": "synonym"
                }
            ],
            "record_id": "P48298-1",
            "evidence": [
                {
                    "id": "0080390",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080390"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60500-1",
            "uniprot_ac": "O60500",
            "uniprot_id": "NPHN_HUMAN",
            "refseq_ac": "NP_004637",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrin",
                    "type": "recommended"
                },
                {
                    "name": "NPHS1, nephrin",
                    "type": "synonym"
                },
                {
                    "name": "Renal glomerulus-specific cell adhesion receptor",
                    "type": "synonym"
                },
                {
                    "name": "nephrin precursor",
                    "type": "synonym"
                },
                {
                    "name": "nephrosis 1, congenital, Finnish type (nephrin)",
                    "type": "synonym"
                },
                {
                    "name": "renal glomerulus-specific cell adhesion receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NPHS1",
                    "type": "recommended"
                },
                {
                    "name": "CNF",
                    "type": "synonym"
                },
                {
                    "name": "NPHN",
                    "type": "synonym"
                },
                {
                    "name": "NPHS1",
                    "type": "synonym"
                },
                {
                    "name": "nephrin",
                    "type": "synonym"
                }
            ],
            "record_id": "O60500-1",
            "evidence": [
                {
                    "id": "256300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/256300"
                },
                {
                    "id": "0080390",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080390"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R044-1",
            "uniprot_ac": "Q9R044",
            "uniprot_id": "NPHN_RAT",
            "refseq_ac": "NP_072150",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adhesion molecule nephrin",
                    "type": "recommended"
                },
                {
                    "name": "NPHS1 nephrin",
                    "type": "synonym"
                },
                {
                    "name": "Protein nephrosis 1",
                    "type": "synonym"
                },
                {
                    "name": "Renal glomerulus-specific cell adhesion receptor",
                    "type": "synonym"
                },
                {
                    "name": "adhesion molecule nephrin precursor",
                    "type": "synonym"
                },
                {
                    "name": "adhesion molecule nephrin",
                    "type": "synonym"
                },
                {
                    "name": "nephrosis 1 homolog, nephrin",
                    "type": "synonym"
                },
                {
                    "name": "nephrosis 1, congenital, Finnish type (nephrin)",
                    "type": "synonym"
                },
                {
                    "name": "protein nephrosis 1",
                    "type": "synonym"
                },
                {
                    "name": "renal glomerulus-specific cell adhesion receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nphs1",
                    "type": "recommended"
                },
                {
                    "name": "Nphn",
                    "type": "synonym"
                },
                {
                    "name": "Nphs1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R044-1",
            "evidence": [
                {
                    "id": "0080390",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080390"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97545-1",
            "uniprot_ac": "P97545",
            "uniprot_id": "CCL11_RAT",
            "refseq_ac": "NP_062078",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eotaxin",
                    "type": "recommended"
                },
                {
                    "name": "C-C motif chemokine 11",
                    "type": "synonym"
                },
                {
                    "name": "Eosinophil chemotactic protein",
                    "type": "synonym"
                },
                {
                    "name": "Small-inducible cytokine A11",
                    "type": "synonym"
                },
                {
                    "name": "chemokine (C-C motif) ligand 11",
                    "type": "synonym"
                },
                {
                    "name": "eosinophil chemotactic protein",
                    "type": "synonym"
                },
                {
                    "name": "eotaxin precursor",
                    "type": "synonym"
                },
                {
                    "name": "eotaxin",
                    "type": "synonym"
                },
                {
                    "name": "small inducible cytokine subfamily A11",
                    "type": "synonym"
                },
                {
                    "name": "small-inducible cytokine A11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccl11",
                    "type": "recommended"
                },
                {
                    "name": "Ccl11",
                    "type": "synonym"
                },
                {
                    "name": "Scya11",
                    "type": "synonym"
                }
            ],
            "record_id": "P97545-1",
            "evidence": [
                {
                    "id": "0080390",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080390"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z9X4-1",
            "uniprot_ac": "A1Z9X4",
            "uniprot_id": "A1Z9X4_DROME",
            "refseq_ac": "NP_001286439",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "A69",
                    "type": "synonym"
                },
                {
                    "name": "CG7449-PC",
                    "type": "synonym"
                },
                {
                    "name": "Hibris, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Hibris, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "hbs-PC",
                    "type": "synonym"
                },
                {
                    "name": "hibris, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "hibris",
                    "type": "synonym"
                },
                {
                    "name": "inappropriate contacts",
                    "type": "synonym"
                },
                {
                    "name": "inappropriate contact",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hbs",
                    "type": "recommended"
                },
                {
                    "name": "A69",
                    "type": "synonym"
                },
                {
                    "name": "CG7449",
                    "type": "synonym"
                },
                {
                    "name": "CT22841",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7449",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7449",
                    "type": "synonym"
                },
                {
                    "name": "Hbs",
                    "type": "synonym"
                },
                {
                    "name": "a69",
                    "type": "synonym"
                },
                {
                    "name": "hbs",
                    "type": "synonym"
                },
                {
                    "name": "icon",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z9X4-1",
            "evidence": [
                {
                    "id": "0080390",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080390"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0E9F2-1",
            "uniprot_ac": "Q0E9F2",
            "uniprot_id": "Q0E9F2_DROME",
            "refseq_ac": "NP_001036532",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG33141-PB",
                    "type": "synonym"
                },
                {
                    "name": "Sticks and stones, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "nephrin",
                    "type": "synonym"
                },
                {
                    "name": "sns-PB",
                    "type": "synonym"
                },
                {
                    "name": "stick-and-stones",
                    "type": "synonym"
                },
                {
                    "name": "sticks and stones, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "sticks and stones",
                    "type": "synonym"
                },
                {
                    "name": "sticks and stone",
                    "type": "synonym"
                },
                {
                    "name": "sticks-and-stones",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sns",
                    "type": "recommended"
                },
                {
                    "name": "43-49",
                    "type": "synonym"
                },
                {
                    "name": "CG12495",
                    "type": "synonym"
                },
                {
                    "name": "CG13752",
                    "type": "synonym"
                },
                {
                    "name": "CG13753",
                    "type": "synonym"
                },
                {
                    "name": "CG13754",
                    "type": "synonym"
                },
                {
                    "name": "CG13755",
                    "type": "synonym"
                },
                {
                    "name": "CG18464",
                    "type": "synonym"
                },
                {
                    "name": "CG2385",
                    "type": "synonym"
                },
                {
                    "name": "CG33141",
                    "type": "synonym"
                },
                {
                    "name": "CG8278",
                    "type": "synonym"
                },
                {
                    "name": "CT33230",
                    "type": "synonym"
                },
                {
                    "name": "CT33232",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33141",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33141",
                    "type": "synonym"
                },
                {
                    "name": "SNS",
                    "type": "synonym"
                },
                {
                    "name": "SnS",
                    "type": "synonym"
                },
                {
                    "name": "Sns",
                    "type": "synonym"
                },
                {
                    "name": "rost",
                    "type": "synonym"
                },
                {
                    "name": "sns20",
                    "type": "synonym"
                },
                {
                    "name": "sns",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0E9F2-1",
            "evidence": [
                {
                    "id": "0080390",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080390"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51671-1",
            "uniprot_ac": "P51671",
            "uniprot_id": "CCL11_HUMAN",
            "refseq_ac": "NP_002977",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eotaxin",
                    "type": "recommended"
                },
                {
                    "name": "C-C motif chemokine 11",
                    "type": "synonym"
                },
                {
                    "name": "Eosinophil chemotactic protein",
                    "type": "synonym"
                },
                {
                    "name": "Small-inducible cytokine A11",
                    "type": "synonym"
                },
                {
                    "name": "chemokine (C-C motif) ligand 11",
                    "type": "synonym"
                },
                {
                    "name": "eosinophil chemotactic protein",
                    "type": "synonym"
                },
                {
                    "name": "eotaxin precursor",
                    "type": "synonym"
                },
                {
                    "name": "eotaxin-1",
                    "type": "synonym"
                },
                {
                    "name": "small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCL11",
                    "type": "recommended"
                },
                {
                    "name": "CCL11",
                    "type": "synonym"
                },
                {
                    "name": "SCYA11",
                    "type": "synonym"
                }
            ],
            "record_id": "P51671-1",
            "evidence": [
                {
                    "id": "0080390",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080390"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080390"
}