{
    "disease_id": "DOID:0080388",
    "recommended_name": {
        "id": "DOID:0080388",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080388",
        "name": "nephrotic syndrome type 7",
        "description": "A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080388",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080388",
            "name": "Ig-mediated MPGN",
            "description": ""
        },
        {
            "id": "DOID:0080388",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080388",
            "name": "Immunoglobulin-mediated MPGN",
            "description": ""
        },
        {
            "id": "DOID:0080388",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080388",
            "name": "nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis",
            "description": ""
        },
        {
            "id": "DOID:0080388",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080388",
            "name": "immunoglobulin-mediated membranoproliferative glomerulonephritis",
            "description": ""
        },
        {
            "id": "DOID:0080388",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080388",
            "name": "Ig-mediated membranoproliferative glomerulonephritis",
            "description": ""
        },
        {
            "id": "MONDO:0014005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014005",
            "name": "immunoglobulin-mediated membranoproliferative glomerulonephritis",
            "description": "Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation."
        },
        {
            "id": "MONDO:0014005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014005",
            "name": "Ig-mediated MPGN",
            "description": ""
        },
        {
            "id": "MONDO:0014005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014005",
            "name": "Ig-mediated membranoproliferative glomerulonephritis",
            "description": ""
        },
        {
            "id": "MONDO:0014005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014005",
            "name": "NPHS7",
            "description": ""
        },
        {
            "id": "MONDO:0014005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014005",
            "name": "immune complex mediated membranoproliferative glomerulonephritis",
            "description": ""
        },
        {
            "id": "MONDO:0014005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014005",
            "name": "immunoglobulin-mediated MPGN",
            "description": ""
        },
        {
            "id": "MONDO:0014005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014005",
            "name": "immunoglobulin-mediated membranoproliferative glomerulonephritis",
            "description": ""
        },
        {
            "id": "MONDO:0014005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014005",
            "name": "membranoproliferative glomerulonephritis type I",
            "description": ""
        },
        {
            "id": "MONDO:0014005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014005",
            "name": "mesangiocapillary glomerulonephritis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0014005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014005",
            "name": "nephrotic syndrome, type 7",
            "description": ""
        },
        {
            "id": "MONDO:0014005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014005",
            "name": "nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis",
            "description": ""
        },
        {
            "id": "MIM:615008",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615008",
            "name": "Nephrotic syndrome 7",
            "description": "Nephrotic syndrome 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080388"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080388",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080388",
            "categories": []
        },
        {
            "id": "MONDO:0014005",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014005",
            "categories": []
        },
        {
            "id": "MIM:615008",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615008",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NVX4-1",
            "uniprot_ac": "A0A8M1NVX4",
            "uniprot_id": "A0A8M1NVX4_DANRE",
            "refseq_ac": "NP_001165699",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Diacylglycerol kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.107",
                    "type": "synonym"
                },
                {
                    "name": "DAG kinase",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol kinase epsilon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dgke",
                    "type": "recommended"
                },
                {
                    "name": "dgke",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NVX4-1",
            "evidence": [
                {
                    "id": "0080388",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080388"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R1C6-1",
            "uniprot_ac": "Q9R1C6",
            "uniprot_id": "DGKE_MOUSE",
            "refseq_ac": "NP_062378",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Diacylglycerol kinase epsilon",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.107",
                    "type": "synonym"
                },
                {
                    "name": "DAG kinase epsilon",
                    "type": "synonym"
                },
                {
                    "name": "DGK-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "Diglyceride kinase epsilon",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol kinase epsilon isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "diglyceride kinase epsilon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dgke",
                    "type": "recommended"
                },
                {
                    "name": "DAGK6",
                    "type": "synonym"
                },
                {
                    "name": "DGK-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "DGK",
                    "type": "synonym"
                },
                {
                    "name": "Dgke",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1C6-1",
            "evidence": [
                {
                    "id": "0080388",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080388"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52429-1",
            "uniprot_ac": "P52429",
            "uniprot_id": "DGKE_HUMAN",
            "refseq_ac": "NP_003638",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Diacylglycerol kinase epsilon",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.107",
                    "type": "synonym"
                },
                {
                    "name": "DAG kinase epsilon",
                    "type": "synonym"
                },
                {
                    "name": "DGK-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "Diglyceride kinase epsilon",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol kinase epsilon",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol kinase, epsilon 64kDa",
                    "type": "synonym"
                },
                {
                    "name": "diglyceride kinase epsilon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DGKE",
                    "type": "recommended"
                },
                {
                    "name": "AHUS7",
                    "type": "synonym"
                },
                {
                    "name": "DAGK5",
                    "type": "synonym"
                },
                {
                    "name": "DAGK6",
                    "type": "synonym"
                },
                {
                    "name": "DGKE",
                    "type": "synonym"
                },
                {
                    "name": "DGK",
                    "type": "synonym"
                },
                {
                    "name": "NPHS7",
                    "type": "synonym"
                }
            ],
            "record_id": "P52429-1",
            "evidence": [
                {
                    "id": "615008",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615008"
                },
                {
                    "id": "0080388",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080388"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A096UWG9-1",
            "uniprot_ac": "A0A096UWG9",
            "uniprot_id": "A0A096UWG9_RAT",
            "refseq_ac": "NP_001381287",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Diacylglycerol kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.107",
                    "type": "synonym"
                },
                {
                    "name": "DAG kinase",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol kinase epsilon isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol kinase, epsilon 64kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dgke",
                    "type": "recommended"
                },
                {
                    "name": "Dgke",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A096UWG9-1",
            "evidence": [
                {
                    "id": "0080388",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080388"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080388"
}