{
    "disease_id": "DOID:0080382",
    "recommended_name": {
        "id": "DOID:0080382",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080382",
        "name": "nephrotic syndrome type 3",
        "description": "A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23."
    },
    "synonyms": [
        {
            "id": "DOID:0080382",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080382",
            "name": "early onset nephrotic syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012546",
            "name": "nephrotic syndrome, type 3",
            "description": "Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene."
        },
        {
            "id": "MONDO:0012546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012546",
            "name": "PLCE1 nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012546",
            "name": "nephrotic syndrome caused by mutation in PLCE1",
            "description": ""
        },
        {
            "id": "MONDO:0012546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012546",
            "name": "nephrotic syndrome, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012546",
            "name": "NPHS3",
            "description": ""
        },
        {
            "id": "MIM:610725",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610725",
            "name": "Nephrotic syndrome 3",
            "description": "Nephrotic syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080382"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080382",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080382",
            "categories": []
        },
        {
            "id": "MONDO:0012546",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012546",
            "categories": []
        },
        {
            "id": "MIM:610725",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610725",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PWG9-1",
            "uniprot_ac": "A0A8M9PWG9",
            "uniprot_id": "A0A8M9PWG9_DANRE",
            "refseq_ac": "XP_021335822",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoinositide phospholipase C",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "plce1",
                    "type": "recommended"
                },
                {
                    "name": "plce1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PWG9-1",
            "evidence": [
                {
                    "id": "0080382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080382"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K4S1-1",
            "uniprot_ac": "Q8K4S1",
            "uniprot_id": "PLCE1_MOUSE",
            "refseq_ac": "NP_062534",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C-epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C-epsilon-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plce1",
                    "type": "recommended"
                },
                {
                    "name": "4933403A21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1516",
                    "type": "synonym"
                },
                {
                    "name": "PLCepsilon",
                    "type": "synonym"
                },
                {
                    "name": "Plce1",
                    "type": "synonym"
                },
                {
                    "name": "Plce",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1516",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K4S1-1",
            "evidence": [
                {
                    "id": "0080382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080382"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P212-1",
            "uniprot_ac": "Q9P212",
            "uniprot_id": "PLCE1_HUMAN",
            "refseq_ac": "NP_001159451",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "Pancreas-enriched phospholipase C",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C-epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "pancreas-enriched phospholipase C",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C-epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide-specific phospholipase C epsilon-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLCE1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1516",
                    "type": "synonym"
                },
                {
                    "name": "NPHS3",
                    "type": "synonym"
                },
                {
                    "name": "PLCE1",
                    "type": "synonym"
                },
                {
                    "name": "PLCE",
                    "type": "synonym"
                },
                {
                    "name": "PPLC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P212-1",
            "evidence": [
                {
                    "id": "610725",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610725"
                },
                {
                    "id": "0080382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080382"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99P84-1",
            "uniprot_ac": "Q99P84",
            "uniprot_id": "PLCE1_RAT",
            "refseq_ac": "NP_446210",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C-epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C-epsilon-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide-specific phospholipase C epsilon-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plce1",
                    "type": "recommended"
                },
                {
                    "name": "Plce1",
                    "type": "synonym"
                },
                {
                    "name": "Plce",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99P84-1",
            "evidence": [
                {
                    "id": "0080382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080382"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080382"
}