{
    "disease_id": "DOID:0111731",
    "recommended_name": {
        "id": "DOID:0111731",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111731",
        "name": "familial episodic pain syndrome 3",
        "description": "A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22."
    },
    "synonyms": [
        {
            "id": "DOID:0111731",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111731",
            "name": "FEPS3",
            "description": ""
        },
        {
            "id": "MONDO:0014247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014247",
            "name": "familial episodic pain syndrome with predominantly lower limb involvement",
            "description": "A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age."
        },
        {
            "id": "MONDO:0014247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014247",
            "name": "episodic pain syndrome, familial, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014247",
            "name": "FEPS3",
            "description": ""
        },
        {
            "id": "MONDO:0014247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014247",
            "name": "episodic pain syndrome, familial, 3",
            "description": ""
        },
        {
            "id": "MIM:615552",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615552",
            "name": "Episodic pain syndrome, familial, 3",
            "description": "Episodic pain syndrome, familial, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111731"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111731",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111731",
            "categories": []
        },
        {
            "id": "MONDO:0014247",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014247",
            "categories": []
        },
        {
            "id": "MIM:615552",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615552",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9R053-1",
            "uniprot_ac": "Q9R053",
            "uniprot_id": "SCNBA_MOUSE",
            "refseq_ac": "NP_036017",
            "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 11 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "NaN",
                    "type": "synonym"
                },
                {
                    "name": "Sensory neuron sodium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type XI subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.9",
                    "type": "synonym"
                },
                {
                    "name": "sensory neuron sodium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 11 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type XI subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type XI, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel NAV1.9b",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn11a",
                    "type": "recommended"
                },
                {
                    "name": "NSS2",
                    "type": "synonym"
                },
                {
                    "name": "NaN",
                    "type": "synonym"
                },
                {
                    "name": "NaT",
                    "type": "synonym"
                },
                {
                    "name": "NaV1.9",
                    "type": "synonym"
                },
                {
                    "name": "Nan",
                    "type": "synonym"
                },
                {
                    "name": "Nat",
                    "type": "synonym"
                },
                {
                    "name": "SNS2",
                    "type": "synonym"
                },
                {
                    "name": "Scn11a",
                    "type": "synonym"
                },
                {
                    "name": "Sns2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R053-1",
            "evidence": [
                {
                    "id": "0111731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111731"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UI33-1",
            "uniprot_ac": "Q9UI33",
            "uniprot_id": "SCNBA_HUMAN",
            "refseq_ac": "NP_054858",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 11 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "PN5",
                    "type": "synonym"
                },
                {
                    "name": "Peripheral nerve sodium channel 5",
                    "type": "synonym"
                },
                {
                    "name": "Sensory neuron sodium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type XI subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.9",
                    "type": "synonym"
                },
                {
                    "name": "hNaN",
                    "type": "synonym"
                },
                {
                    "name": "peripheral nerve sodium channel 5",
                    "type": "synonym"
                },
                {
                    "name": "sensory neuron sodium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 11 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type XI subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type XI, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type XI, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type XII, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCN11A",
                    "type": "recommended"
                },
                {
                    "name": "FEPS3",
                    "type": "synonym"
                },
                {
                    "name": "HSAN7",
                    "type": "synonym"
                },
                {
                    "name": "NAV1.9",
                    "type": "synonym"
                },
                {
                    "name": "NaN",
                    "type": "synonym"
                },
                {
                    "name": "PN5",
                    "type": "synonym"
                },
                {
                    "name": "SCN11A",
                    "type": "synonym"
                },
                {
                    "name": "SCN12A",
                    "type": "synonym"
                },
                {
                    "name": "SNS-2",
                    "type": "synonym"
                },
                {
                    "name": "SNS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UI33-1",
            "evidence": [
                {
                    "id": "615552",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615552"
                },
                {
                    "id": "0111731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111731"
                }
            ]
        },
        {
            "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",
                    "type": "synonym"
                }
            ],
            "record_id": "P50077-1",
            "evidence": [
                {
                    "id": "0111731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111731"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88457-1",
            "uniprot_ac": "O88457",
            "uniprot_id": "SCNBA_RAT",
            "refseq_ac": "NP_062138",
            "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 11 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "NaN",
                    "type": "synonym"
                },
                {
                    "name": "Sensory neuron sodium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type XI subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.9",
                    "type": "synonym"
                },
                {
                    "name": "sensory neuron sodium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 11 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type XI subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type 11, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type XI, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type XI, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type11, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel NAV1.9b",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn11a",
                    "type": "recommended"
                },
                {
                    "name": "NaN",
                    "type": "synonym"
                },
                {
                    "name": "Nan",
                    "type": "synonym"
                },
                {
                    "name": "Scn11a",
                    "type": "synonym"
                },
                {
                    "name": "Sns2",
                    "type": "synonym"
                }
            ],
            "record_id": "O88457-1",
            "evidence": [
                {
                    "id": "0111731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111731"
                }
            ]
        },
        {
            "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]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein para",
                    "type": "recommended"
                },
                {
                    "name": "CG9907-PB",
                    "type": "synonym"
                },
                {
                    "name": "DmNav1",
                    "type": "synonym"
                },
                {
                    "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",
                    "type": "synonym"
                },
                {
                    "name": "para-PB",
                    "type": "synonym"
                },
                {
                    "name": "paralytic, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "paralytic",
                    "type": "synonym"
                },
                {
                    "name": "paralyzed",
                    "type": "synonym"
                },
                {
                    "name": "shudderer",
                    "type": "synonym"
                },
                {
                    "name": "smell-blind",
                    "type": "synonym"
                },
                {
                    "name": "smellblind",
                    "type": "synonym"
                },
                {
                    "name": "voltage gated sodium ion channel",
                    "type": "synonym"
                },
                {
                    "name": "voltage-sensitive sodium channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "para",
                    "type": "recommended"
                },
                {
                    "name": "CG9907",
                    "type": "synonym"
                },
                {
                    "name": "DmNa[[V]]",
                    "type": "synonym"
                },
                {
                    "name": "DmNa[[v]]1",
                    "type": "synonym"
                },
                {
                    "name": "DmNa[[v]]",
                    "type": "synonym"
                },
                {
                    "name": "DmNav1",
                    "type": "synonym"
                },
                {
                    "name": "DmNav",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9907",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9907",
                    "type": "synonym"
                },
                {
                    "name": "Nav1",
                    "type": "synonym"
                },
                {
                    "name": "Ocd",
                    "type": "synonym"
                },
                {
                    "name": "Para",
                    "type": "synonym"
                },
                {
                    "name": "Scn1alpha",
                    "type": "synonym"
                },
                {
                    "name": "Shudderer",
                    "type": "synonym"
                },
                {
                    "name": "Shu",
                    "type": "synonym"
                },
                {
                    "name": "VSSC",
                    "type": "synonym"
                },
                {
                    "name": "bas",
                    "type": "synonym"
                },
                {
                    "name": "bss",
                    "type": "synonym"
                },
                {
                    "name": "l(1)14Da",
                    "type": "synonym"
                },
                {
                    "name": "l(1)ESHS48",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.S9469",
                    "type": "synonym"
                },
                {
                    "name": "olfD",
                    "type": "synonym"
                },
                {
                    "name": "para13-5",
                    "type": "synonym"
                },
                {
                    "name": "para",
                    "type": "synonym"
                },
                {
                    "name": "par",
                    "type": "synonym"
                },
                {
                    "name": "sbl-1",
                    "type": "synonym"
                },
                {
                    "name": "sbl",
                    "type": "synonym"
                }
            ],
            "record_id": "P35500-1",
            "evidence": [
                {
                    "id": "0111731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111731"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111731"
}