{
    "disease_id": "DOID:0111730",
    "recommended_name": {
        "id": "DOID:0111730",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111730",
        "name": "familial episodic pain syndrome 2",
        "description": "A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22."
    },
    "synonyms": [
        {
            "id": "DOID:0111730",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111730",
            "name": "FEPS2",
            "description": ""
        },
        {
            "id": "MONDO:0014246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014246",
            "name": "episodic pain syndrome, familial, 2",
            "description": "Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene."
        },
        {
            "id": "MONDO:0014246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014246",
            "name": "SCN10A familial episodic pain syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014246",
            "name": "episodic pain syndrome, familial, 2",
            "description": ""
        },
        {
            "id": "MONDO:0014246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014246",
            "name": "episodic pain syndrome, familial, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014246",
            "name": "familial episodic pain syndrome caused by mutation in SCN10A",
            "description": ""
        },
        {
            "id": "MONDO:0014246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014246",
            "name": "FEPS2",
            "description": ""
        },
        {
            "id": "MIM:615551",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615551",
            "name": "Episodic pain syndrome, familial, 2",
            "description": "Episodic pain syndrome, familial, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111730"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111730",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111730",
            "categories": []
        },
        {
            "id": "MONDO:0014246",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014246",
            "categories": []
        },
        {
            "id": "MIM:615551",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615551",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6QIY3-1",
            "uniprot_ac": "Q6QIY3",
            "uniprot_id": "SCNAA_MOUSE",
            "refseq_ac": "NP_033160",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 10 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "PN3",
                    "type": "synonym"
                },
                {
                    "name": "Peripheral nerve sodium channel 3",
                    "type": "synonym"
                },
                {
                    "name": "Sensory neuron sodium channel",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type X subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.8",
                    "type": "synonym"
                },
                {
                    "name": "peripheral nerve sodium channel 3",
                    "type": "synonym"
                },
                {
                    "name": "sensory neuron sodium channel",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 10 subunit alpha isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 10 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type X subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "voltage gated sodium channel",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn10a",
                    "type": "recommended"
                },
                {
                    "name": "Nav1.8",
                    "type": "synonym"
                },
                {
                    "name": "PN3",
                    "type": "synonym"
                },
                {
                    "name": "SNS",
                    "type": "synonym"
                },
                {
                    "name": "Scn10a",
                    "type": "synonym"
                },
                {
                    "name": "Sns",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6QIY3-1",
            "evidence": [
                {
                    "id": "0111730",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111730"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y5Y9-1",
            "uniprot_ac": "Q9Y5Y9",
            "uniprot_id": "SCNAA_HUMAN",
            "refseq_ac": "NP_001280235",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Sodium channel protein type 10 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "PN3",
                    "type": "synonym"
                },
                {
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                {
                    "name": "Sodium channel protein type X subunit alpha",
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                },
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                },
                {
                    "name": "hPN3",
                    "type": "synonym"
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                {
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                    "type": "synonym"
                },
                {
                    "name": "sensory neuron sodium channel",
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                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 10 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type X subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type X, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type X, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.8",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "SCN10A",
                    "type": "recommended"
                },
                {
                    "name": "FEPS2",
                    "type": "synonym"
                },
                {
                    "name": "Nav1.8",
                    "type": "synonym"
                },
                {
                    "name": "PN3",
                    "type": "synonym"
                },
                {
                    "name": "SCN10A",
                    "type": "synonym"
                },
                {
                    "name": "SNS",
                    "type": "synonym"
                }
            ],
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                    "id": "615551",
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                    "url": "https://www.omim.org/entry/615551"
                },
                {
                    "id": "0111730",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111730"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50077-1",
            "uniprot_ac": "P50077",
            "uniprot_id": "CCH1_YEAST",
            "refseq_ac": "NP_011733",
            "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": "Calcium-channel protein CCH1",
                    "type": "recommended"
                },
                {
                    "name": "calcium channel protein CCH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCH1",
                    "type": "recommended"
                },
                {
                    "name": "CCH1",
                    "type": "synonym"
                },
                {
                    "name": "G8501",
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            ],
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                {
                    "id": "0111730",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62968-1",
            "uniprot_ac": "Q62968",
            "uniprot_id": "SCNAA_RAT",
            "refseq_ac": "NP_058943",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 10 subunit alpha",
                    "type": "recommended"
                },
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                    "name": "PN3",
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                },
                {
                    "name": "Peripheral nerve sodium channel 3",
                    "type": "synonym"
                },
                {
                    "name": "Sensory neuron sodium channel",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type X subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.8",
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                },
                {
                    "name": "peripheral nerve sodium channel 3",
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                    "name": "sensory neuron sodium channel",
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                },
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                {
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                    "type": "synonym"
                },
                {
                    "name": "sodium channel type X alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel voltage-gated type X alpha polypeptide",
                    "type": "synonym"
                },
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                    "name": "sodium channel, voltage-gated, type 10, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type X, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.8",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Scn10a",
                    "type": "recommended"
                },
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                    "name": "Na(V)1.8",
                    "type": "synonym"
                },
                {
                    "name": "Nav1.8",
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                },
                {
                    "name": "PN3",
                    "type": "synonym"
                },
                {
                    "name": "Scn10a",
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                },
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                    "name": "Sns",
                    "type": "synonym"
                }
            ],
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                    "id": "0111730",
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                }
            ]
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        {
            "uniprot_canonical_ac": "P35500-1",
            "uniprot_ac": "P35500",
            "uniprot_id": "SCNA_DROME",
            "refseq_ac": "NP_001036280",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Sodium channel protein para",
                    "type": "recommended"
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                {
                    "name": "CG9907-PB",
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                },
                {
                    "name": "DmNav1",
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                },
                {
                    "name": "Out cold",
                    "type": "synonym"
                },
                {
                    "name": "Out-cold",
                    "type": "synonym"
                },
                {
                    "name": "Protein paralytic",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "bang senseless",
                    "type": "synonym"
                },
                {
                    "name": "bang sensitive",
                    "type": "synonym"
                },
                {
                    "name": "bang-senseless",
                    "type": "synonym"
                },
                {
                    "name": "bangsenseless",
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                    "name": "para-PB",
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                    "name": "paralytic, isoform B",
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                },
                {
                    "name": "paralytic",
                    "type": "synonym"
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                {
                    "name": "paralyzed",
                    "type": "synonym"
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                {
                    "name": "shudderer",
                    "type": "synonym"
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                {
                    "name": "smell-blind",
                    "type": "synonym"
                },
                {
                    "name": "smellblind",
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                },
                {
                    "name": "voltage gated sodium ion channel",
                    "type": "synonym"
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                {
                    "name": "voltage-sensitive sodium channel",
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                },
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                    "name": "DmNa[[V]]",
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                {
                    "name": "DmNa[[v]]1",
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                    "name": "DmNa[[v]]",
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                {
                    "name": "DmNav1",
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                    "name": "DmNav",
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                    "name": "Dmel\\CG9907",
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                {
                    "name": "Dmel_CG9907",
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                {
                    "name": "Nav1",
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                    "name": "Ocd",
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                },
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                    "name": "Para",
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                },
                {
                    "name": "Scn1alpha",
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                },
                {
                    "name": "Shudderer",
                    "type": "synonym"
                },
                {
                    "name": "Shu",
                    "type": "synonym"
                },
                {
                    "name": "VSSC",
                    "type": "synonym"
                },
                {
                    "name": "bas",
                    "type": "synonym"
                },
                {
                    "name": "bss",
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                },
                {
                    "name": "l(1)14Da",
                    "type": "synonym"
                },
                {
                    "name": "l(1)ESHS48",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.S9469",
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                },
                {
                    "name": "olfD",
                    "type": "synonym"
                },
                {
                    "name": "para13-5",
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                },
                {
                    "name": "para",
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                },
                {
                    "name": "par",
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                {
                    "name": "sbl-1",
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                    "id": "0111730",
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            "uniprot_canonical_ac": "P37268-1",
            "uniprot_ac": "P37268",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Squalene synthase",
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                    "name": "2.5.1.21",
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                {
                    "name": "FPP:FPP farnesyltransferase",
                    "type": "synonym"
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                {
                    "name": "Farnesyl-diphosphate farnesyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Farnesyl-diphosphate farnesyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "SQS",
                    "type": "synonym"
                },
                {
                    "name": "SS",
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                {
                    "name": "presqualene-di-diphosphate synthase",
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                {
                    "name": "squalene synthase isoform 1",
                    "type": "synonym"
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                    "name": "squalene synthase",
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                {
                    "name": "squalene synthetase",
                    "type": "synonym"
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                    "name": "FDFT1",
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                    "name": "DGPT",
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                    "name": "ERG9",
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                    "name": "FDFT1",
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                    "name": "SQSD",
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                    "name": "SQS",
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            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111730"
}