{
    "disease_id": "DOID:0081423",
    "recommended_name": {
        "id": "DOID:0081423",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081423",
        "name": "familial focal epilepsy with variable foci 3",
        "description": "A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL3 gene on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014925",
            "name": "epilepsy, familial focal, with variable foci 3",
            "description": "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene."
        },
        {
            "id": "MONDO:0014925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014925",
            "name": "FFEVF3",
            "description": ""
        },
        {
            "id": "MONDO:0014925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014925",
            "name": "NPRL3 epilepsy, familial focal, with variable foci",
            "description": ""
        },
        {
            "id": "MONDO:0014925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014925",
            "name": "epilepsy, familial focal, with variable foci 3",
            "description": ""
        },
        {
            "id": "MONDO:0014925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014925",
            "name": "epilepsy, familial focal, with variable foci 3; FFEVF3",
            "description": ""
        },
        {
            "id": "MONDO:0014925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014925",
            "name": "epilepsy, familial focal, with variable foci caused by mutation in NPRL3",
            "description": ""
        },
        {
            "id": "MONDO:0014925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014925",
            "name": "epilepsy, familial focal, with variable foci type 3",
            "description": ""
        },
        {
            "id": "MIM:617118",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617118",
            "name": "Epilepsy, familial focal, with variable foci 3",
            "description": "Epilepsy, familial focal, with variable foci 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081423"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081423",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081423",
            "categories": []
        },
        {
            "id": "MONDO:0014925",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014925",
            "categories": []
        },
        {
            "id": "MIM:617118",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617118",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8VIJ8-1",
            "uniprot_ac": "Q8VIJ8",
            "uniprot_id": "NPRL3_MOUSE",
            "refseq_ac": "NP_001271288",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATOR1 complex protein NPRL3",
                    "type": "recommended"
                },
                {
                    "name": "-14",
                    "type": "synonym"
                },
                {
                    "name": "GATOR complex protein NPRL3",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1 complex protein NPRL3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1 complex protein NPRL3",
                    "type": "synonym"
                },
                {
                    "name": "Nitrogen permease regulator 3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "alpha globin regulatory element containing",
                    "type": "synonym"
                },
                {
                    "name": "alpha-globin regulatory element-containing gene protein",
                    "type": "synonym"
                },
                {
                    "name": "nitrogen permease regulator 3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "proximal locus to the hemoglobin alpha chain complex",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nprl3",
                    "type": "recommended"
                },
                {
                    "name": "Aag",
                    "type": "synonym"
                },
                {
                    "name": "CGTHBA",
                    "type": "synonym"
                },
                {
                    "name": "HS-26",
                    "type": "synonym"
                },
                {
                    "name": "HS-40",
                    "type": "synonym"
                },
                {
                    "name": "Mare",
                    "type": "synonym"
                },
                {
                    "name": "Nprl3",
                    "type": "synonym"
                },
                {
                    "name": "Phg",
                    "type": "synonym"
                },
                {
                    "name": "Prox1",
                    "type": "synonym"
                },
                {
                    "name": "m(alpha)RE",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VIJ8-1",
            "evidence": [
                {
                    "id": "0081423",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081423"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12980-1",
            "uniprot_ac": "Q12980",
            "uniprot_id": "NPRL3_HUMAN",
            "refseq_ac": "NP_001070818",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATOR1 complex protein NPRL3",
                    "type": "recommended"
                },
                {
                    "name": "-14 gene protein",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-globin regulatory element-containing gene protein",
                    "type": "synonym"
                },
                {
                    "name": "GATOR complex protein NPRL3",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1 complex protein NPRL3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1 complex protein NPRL3",
                    "type": "synonym"
                },
                {
                    "name": "Nitrogen permease regulator 3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein CGTHBA",
                    "type": "synonym"
                },
                {
                    "name": "alpha-globin regulatory element-containing gene protein",
                    "type": "synonym"
                },
                {
                    "name": "conserved gene telomeric to alpha globin cluster",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NPRL3",
                    "type": "recommended"
                },
                {
                    "name": "C16orf35",
                    "type": "synonym"
                },
                {
                    "name": "CGTHBA",
                    "type": "synonym"
                },
                {
                    "name": "FFEVF3",
                    "type": "synonym"
                },
                {
                    "name": "HS-40",
                    "type": "synonym"
                },
                {
                    "name": "MARE",
                    "type": "synonym"
                },
                {
                    "name": "NPR3",
                    "type": "synonym"
                },
                {
                    "name": "NPRL3",
                    "type": "synonym"
                },
                {
                    "name": "RMD11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12980-1",
            "evidence": [
                {
                    "id": "617118",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617118"
                },
                {
                    "id": "0081423",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081423"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38742-1",
            "uniprot_ac": "P38742",
            "uniprot_id": "NPR3_YEAST",
            "refseq_ac": "NP_011840",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "Npr3p",
                    "type": "synonym"
                },
                {
                    "name": "Required for meiotic nuclear division protein 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NPR3",
                    "type": "recommended"
                },
                {
                    "name": "NPR3",
                    "type": "synonym"
                },
                {
                    "name": "RMD11",
                    "type": "synonym"
                }
            ],
            "record_id": "P38742-1",
            "evidence": [
                {
                    "id": "0081423",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081423"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AV56-1",
            "uniprot_ac": "A0A8I6AV56",
            "uniprot_id": "A0A8I6AV56_RAT",
            "refseq_ac": "NP_001381164",
            "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 NPRL3",
                    "type": "recommended"
                },
                {
                    "name": "GATOR complex protein NPRL3",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1 complex protein NPRL3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1 complex protein NPRL3",
                    "type": "synonym"
                },
                {
                    "name": "Nitrogen permease regulator 3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "nitrogen permease regulator 3-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nprl3",
                    "type": "recommended"
                },
                {
                    "name": "Mare",
                    "type": "synonym"
                },
                {
                    "name": "Nprl3",
                    "type": "synonym"
                },
                {
                    "name": "RGD1308665",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AV56-1",
            "evidence": [
                {
                    "id": "0081423",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081423"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUB4-1",
            "uniprot_ac": "Q9VUB4",
            "uniprot_id": "NPRL3_DROME",
            "refseq_ac": "NP_001261818",
            "glycoprotein": "yes",
            "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 NPRL3",
                    "type": "recommended"
                },
                {
                    "name": "CG8783-PC",
                    "type": "synonym"
                },
                {
                    "name": "Nitrogen permease regulator 3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Nprl3-PC",
                    "type": "synonym"
                },
                {
                    "name": "nitrogen permease regulator-like 3, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nprl3",
                    "type": "recommended"
                },
                {
                    "name": "CG8783",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8783",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1",
                    "type": "synonym"
                },
                {
                    "name": "NPR3",
                    "type": "synonym"
                },
                {
                    "name": "Nplr3",
                    "type": "synonym"
                },
                {
                    "name": "Nprl3",
                    "type": "synonym"
                },
                {
                    "name": "nprl3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUB4-1",
            "evidence": [
                {
                    "id": "0081423",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081423"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081423"
}