{
    "disease_id": "DOID:0080271",
    "recommended_name": {
        "id": "DOID:0080271",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080271",
        "name": "nephrotic syndrome type 15",
        "description": "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0033262",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033262",
            "name": "nephrotic syndrome 15",
            "description": ""
        },
        {
            "id": "MONDO:0033262",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033262",
            "name": "nephrotic syndrome 15",
            "description": ""
        },
        {
            "id": "MONDO:0033262",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033262",
            "name": "nephrotic syndrome, type 15",
            "description": ""
        },
        {
            "id": "MONDO:0033262",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033262",
            "name": "NPHS15",
            "description": ""
        },
        {
            "id": "MIM:617609",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617609",
            "name": "Nephrotic syndrome 15",
            "description": "Nephrotic syndrome 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080271"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080271",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080271",
            "categories": []
        },
        {
            "id": "MONDO:0033262",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033262",
            "categories": []
        },
        {
            "id": "MIM:617609",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617609",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q897-1",
            "uniprot_ac": "F1Q897",
            "uniprot_id": "F1Q897_DANRE",
            "refseq_ac": "NP_001314782",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Atrophin-1-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "BAI1-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-associated guanylate kinase inverted 1",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-associated guanylate kinase inverted 2",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "membrane associated guanylate kinase, WW and PDZ domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "magi2a",
                    "type": "recommended"
                },
                {
                    "name": "fb82g11",
                    "type": "synonym"
                },
                {
                    "name": "magi2a",
                    "type": "synonym"
                },
                {
                    "name": "magi2",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-97c7.1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-86a5.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb82g11",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q897-1",
            "evidence": [
                {
                    "id": "0080271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080271"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58IYC1-1",
            "uniprot_ac": "A0AC58IYC1",
            "uniprot_id": "A0AC58IYC1_DANRE",
            "refseq_ac": "XP_073799220",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Atrophin-1-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "BAI1-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-associated guanylate kinase inverted 1",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-associated guanylate kinase inverted 2",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "magi2b",
                    "type": "recommended"
                },
                {
                    "name": "magi2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58IYC1-1",
            "evidence": [
                {
                    "id": "0080271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080271"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WVQ1-1",
            "uniprot_ac": "Q9WVQ1",
            "uniprot_id": "MAGI2_MOUSE",
            "refseq_ac": "NP_001164216",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "AIP-1",
                    "type": "synonym"
                },
                {
                    "name": "Activin receptor-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Acvrip1",
                    "type": "synonym"
                },
                {
                    "name": "Atrophin-1-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "MAGI-2",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-associated guanylate kinase inverted 2",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "atrophin-1-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated guanylate kinase inverted 2",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Magi2",
                    "type": "recommended"
                },
                {
                    "name": "AIP-1",
                    "type": "synonym"
                },
                {
                    "name": "Acvri1",
                    "type": "synonym"
                },
                {
                    "name": "Acvrinp1",
                    "type": "synonym"
                },
                {
                    "name": "Acvrip1",
                    "type": "synonym"
                },
                {
                    "name": "Aip1",
                    "type": "synonym"
                },
                {
                    "name": "Arip1",
                    "type": "synonym"
                },
                {
                    "name": "Magi-2",
                    "type": "synonym"
                },
                {
                    "name": "Magi2",
                    "type": "synonym"
                },
                {
                    "name": "S-SCAM",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0705",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVQ1-1",
            "evidence": [
                {
                    "id": "0080271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080271"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86UL8-1",
            "uniprot_ac": "Q86UL8",
            "uniprot_id": "MAGI2_HUMAN",
            "refseq_ac": "NP_001288057",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "AIP-1",
                    "type": "synonym"
                },
                {
                    "name": "Atrophin-1-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Atrophin-1-interacting protein A",
                    "type": "synonym"
                },
                {
                    "name": "MAGI-2",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-associated guanylate kinase inverted 2",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "atrophin-1-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "atrophin-1-interacting protein A",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated guanylate kinase inverted 2",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAGI2",
                    "type": "recommended"
                },
                {
                    "name": "ACVRINP1",
                    "type": "synonym"
                },
                {
                    "name": "ACVRIP1",
                    "type": "synonym"
                },
                {
                    "name": "AIP-1",
                    "type": "synonym"
                },
                {
                    "name": "AIP1",
                    "type": "synonym"
                },
                {
                    "name": "ARIP1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0705",
                    "type": "synonym"
                },
                {
                    "name": "MAGI-2",
                    "type": "synonym"
                },
                {
                    "name": "MAGI2",
                    "type": "synonym"
                },
                {
                    "name": "NPHS15",
                    "type": "synonym"
                },
                {
                    "name": "SSCAM",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86UL8-1",
            "evidence": [
                {
                    "id": "617609",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617609"
                },
                {
                    "id": "0080271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080271"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88382-1",
            "uniprot_ac": "O88382",
            "uniprot_id": "MAGI2_RAT",
            "refseq_ac": "NP_446073",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "AIP-1",
                    "type": "synonym"
                },
                {
                    "name": "Atrophin-1-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "MAGI-2",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-associated guanylate kinase inverted 2",
                    "type": "synonym"
                },
                {
                    "name": "S-SCAM",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic-scaffolding molecule",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "atrophin-1-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated guanylate kinase inverted 2",
                    "type": "synonym"
                },
                {
                    "name": "membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "synaptic-scaffolding molecule",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Magi2",
                    "type": "recommended"
                },
                {
                    "name": "AIP-1",
                    "type": "synonym"
                },
                {
                    "name": "Acvrinp1",
                    "type": "synonym"
                },
                {
                    "name": "Acvrip1",
                    "type": "synonym"
                },
                {
                    "name": "Aip1",
                    "type": "synonym"
                },
                {
                    "name": "Magi2",
                    "type": "synonym"
                },
                {
                    "name": "S-SCAM",
                    "type": "synonym"
                },
                {
                    "name": "Sscam",
                    "type": "synonym"
                }
            ],
            "record_id": "O88382-1",
            "evidence": [
                {
                    "id": "0080271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080271"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W2L2-1",
            "uniprot_ac": "Q9W2L2",
            "uniprot_id": "Q9W2L2_DROME",
            "refseq_ac": "NP_001286661",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG30388-PB",
                    "type": "synonym"
                },
                {
                    "name": "Magi, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Magi, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Magi, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Magi-PB",
                    "type": "synonym"
                },
                {
                    "name": "magi, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Magi",
                    "type": "recommended"
                },
                {
                    "name": "CG15656",
                    "type": "synonym"
                },
                {
                    "name": "CG30388",
                    "type": "synonym"
                },
                {
                    "name": "CG4117",
                    "type": "synonym"
                },
                {
                    "name": "D-MAGI",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG30388",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG30388",
                    "type": "synonym"
                },
                {
                    "name": "Ima",
                    "type": "synonym"
                },
                {
                    "name": "Magi",
                    "type": "synonym"
                },
                {
                    "name": "ima",
                    "type": "synonym"
                },
                {
                    "name": "magi",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W2L2-1",
            "evidence": [
                {
                    "id": "0080271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080271"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080271"
}