{
    "disease_id": "DOID:0081422",
    "recommended_name": {
        "id": "DOID:0081422",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081422",
        "name": "familial focal epilepsy with variable foci 2",
        "description": "A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL2 gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0014924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014924",
            "name": "epilepsy, familial focal, with variable foci 2",
            "description": "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene."
        },
        {
            "id": "MONDO:0014924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014924",
            "name": "FFEVF2",
            "description": ""
        },
        {
            "id": "MONDO:0014924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014924",
            "name": "NPRL2 epilepsy, familial focal, with variable foci",
            "description": ""
        },
        {
            "id": "MONDO:0014924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014924",
            "name": "epilepsy, familial focal, with variable foci 2",
            "description": ""
        },
        {
            "id": "MONDO:0014924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014924",
            "name": "epilepsy, familial focal, with variable foci 2; FFEVF2",
            "description": ""
        },
        {
            "id": "MONDO:0014924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014924",
            "name": "epilepsy, familial focal, with variable foci caused by mutation in NPRL2",
            "description": ""
        },
        {
            "id": "MONDO:0014924",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014924",
            "name": "epilepsy, familial focal, with variable foci type 2",
            "description": ""
        },
        {
            "id": "MIM:617116",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617116",
            "name": "Epilepsy, familial focal, with variable foci 2",
            "description": "Epilepsy, familial focal, with variable foci 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081422"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081422",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081422",
            "categories": []
        },
        {
            "id": "MONDO:0014924",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014924",
            "categories": []
        },
        {
            "id": "MIM:617116",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617116",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9WUE4-1",
            "uniprot_ac": "Q9WUE4",
            "uniprot_id": "NPRL2_MOUSE",
            "refseq_ac": "NP_061367",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATOR1 complex protein NPRL2",
                    "type": "recommended"
                },
                {
                    "name": "G21 protein",
                    "type": "synonym"
                },
                {
                    "name": "GATOR complex protein NPRL2",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1 complex protein NPRL2",
                    "type": "synonym"
                },
                {
                    "name": "Gene 21 protein",
                    "type": "synonym"
                },
                {
                    "name": "NPR2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Nitrogen permease regulator 2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "gene 21 protein",
                    "type": "synonym"
                },
                {
                    "name": "nitrogen permase homolog",
                    "type": "synonym"
                },
                {
                    "name": "nitrogen permease regulator 2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "nitrogen permease regulator-like 2",
                    "type": "synonym"
                },
                {
                    "name": "tumor suppressor candidate 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nprl2",
                    "type": "recommended"
                },
                {
                    "name": "2810446G01Rik",
                    "type": "synonym"
                },
                {
                    "name": "G21",
                    "type": "synonym"
                },
                {
                    "name": "NPR2L",
                    "type": "synonym"
                },
                {
                    "name": "Nprl2",
                    "type": "synonym"
                },
                {
                    "name": "Tusc4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WUE4-1",
            "evidence": [
                {
                    "id": "0081422",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081422"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WTW4-1",
            "uniprot_ac": "Q8WTW4",
            "uniprot_id": "NPRL2_HUMAN",
            "refseq_ac": "NP_006536",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATOR1 complex protein NPRL2",
                    "type": "recommended"
                },
                {
                    "name": "2810446G01Rik",
                    "type": "synonym"
                },
                {
                    "name": "G21 protein",
                    "type": "synonym"
                },
                {
                    "name": "GATOR complex protein NPRL2",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1 complex protein NPRL2",
                    "type": "synonym"
                },
                {
                    "name": "Gene 21 protein",
                    "type": "synonym"
                },
                {
                    "name": "NPR2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Nitrogen permease regulator 2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Tumor suppressor candidate 4",
                    "type": "synonym"
                },
                {
                    "name": "gene 21 protein",
                    "type": "synonym"
                },
                {
                    "name": "homologous to yeast nitrogen permease (candidate tumor suppressor)",
                    "type": "synonym"
                },
                {
                    "name": "mutant NPRL2",
                    "type": "synonym"
                },
                {
                    "name": "nitrogen permease regulator 2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "tumor suppressor candidate 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NPRL2",
                    "type": "recommended"
                },
                {
                    "name": "FFEVF2",
                    "type": "synonym"
                },
                {
                    "name": "NPR2L",
                    "type": "synonym"
                },
                {
                    "name": "NPR2",
                    "type": "synonym"
                },
                {
                    "name": "NPRL2",
                    "type": "synonym"
                },
                {
                    "name": "TUSC4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WTW4-1",
            "evidence": [
                {
                    "id": "617116",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617116"
                },
                {
                    "id": "0081422",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081422"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39923-1",
            "uniprot_ac": "P39923",
            "uniprot_id": "NPR2_YEAST",
            "refseq_ac": "NP_010852",
            "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": "Nitrogen permease regulator 2",
                    "type": "recommended"
                },
                {
                    "name": "nitrogen permease regulating protein NPR2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NPR2",
                    "type": "recommended"
                },
                {
                    "name": "NPR2",
                    "type": "synonym"
                }
            ],
            "record_id": "P39923-1",
            "evidence": [
                {
                    "id": "0081422",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081422"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZPN1-1",
            "uniprot_ac": "D3ZPN1",
            "uniprot_id": "D3ZPN1_RAT",
            "refseq_ac": "NP_001020915",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATOR complex protein NPRL2",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1 complex protein NPRL2",
                    "type": "synonym"
                },
                {
                    "name": "NPR2-like, GATOR1 complex subunit",
                    "type": "synonym"
                },
                {
                    "name": "tumor suppressor candidate 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nprl2",
                    "type": "recommended"
                },
                {
                    "name": "Nprl2",
                    "type": "synonym"
                },
                {
                    "name": "Tusc4",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZPN1-1",
            "evidence": [
                {
                    "id": "0081422",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081422"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXA0-1",
            "uniprot_ac": "Q9VXA0",
            "uniprot_id": "NPRL2_DROME",
            "refseq_ac": "NP_573174",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATOR complex protein NPRL2",
                    "type": "recommended"
                },
                {
                    "name": "CG9104-PA",
                    "type": "synonym"
                },
                {
                    "name": "Nitrogen permease regulator 2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Nprl2-PA",
                    "type": "synonym"
                },
                {
                    "name": "nitrogen permease regulator-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nprl2",
                    "type": "recommended"
                },
                {
                    "name": "CG9104",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9104",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1",
                    "type": "synonym"
                },
                {
                    "name": "NPR2",
                    "type": "synonym"
                },
                {
                    "name": "Nplr2",
                    "type": "synonym"
                },
                {
                    "name": "Npr2",
                    "type": "synonym"
                },
                {
                    "name": "Nprl2",
                    "type": "synonym"
                },
                {
                    "name": "npr2",
                    "type": "synonym"
                },
                {
                    "name": "nprl2",
                    "type": "synonym"
                },
                {
                    "name": "nprl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXA0-1",
            "evidence": [
                {
                    "id": "0081422",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081422"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081422"
}