{
    "disease_id": "DOID:0111537",
    "recommended_name": {
        "id": "DOID:0111537",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111537",
        "name": "paroxysmal extreme pain disorder",
        "description": "An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111537",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111537",
            "name": "submandibular, ocular and rectal pain with flushing",
            "description": ""
        },
        {
            "id": "DOID:0111537",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111537",
            "name": "PEPD",
            "description": ""
        },
        {
            "id": "DOID:0111537",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111537",
            "name": "PEXPD",
            "description": ""
        },
        {
            "id": "DOID:0111537",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111537",
            "name": "familial rectal pain",
            "description": ""
        },
        {
            "id": "MONDO:0008179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008179",
            "name": "paroxysmal extreme pain disorder",
            "description": "Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation."
        },
        {
            "id": "MONDO:0008179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008179",
            "name": "familial rectal pain",
            "description": ""
        },
        {
            "id": "MONDO:0008179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008179",
            "name": "paroxysmal extreme pain disorder",
            "description": ""
        },
        {
            "id": "MONDO:0008179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008179",
            "name": "PEPD",
            "description": ""
        },
        {
            "id": "MONDO:0008179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008179",
            "name": "familial rectal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008179",
            "name": "submandibular, ocular, and rectal pain with flushing",
            "description": ""
        },
        {
            "id": "MIM:167400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/167400",
            "name": "Paroxysmal extreme pain disorder",
            "description": "Paroxysmal extreme pain disorder"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111537"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111537",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111537",
            "categories": []
        },
        {
            "id": "MONDO:0008179",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008179",
            "categories": []
        },
        {
            "id": "MIM:167400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/167400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q62205-1",
            "uniprot_ac": "Q62205",
            "uniprot_id": "SCN9A_MOUSE",
            "refseq_ac": "NP_001277603",
            "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 9 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "PN1",
                    "type": "synonym"
                },
                {
                    "name": "Peripheral sodium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type IX subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.7",
                    "type": "synonym"
                },
                {
                    "name": "peripheral sodium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel 25",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 9 subunit alpha isoform a",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 9 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type IX, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel alpha subunit Nav1.7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn9a",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa4197",
                    "type": "synonym"
                },
                {
                    "name": "Nav1.7",
                    "type": "synonym"
                },
                {
                    "name": "PN1",
                    "type": "synonym"
                },
                {
                    "name": "Scn9a",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4197",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62205-1",
            "evidence": [
                {
                    "id": "0111537",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111537"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15858-1",
            "uniprot_ac": "Q15858",
            "uniprot_id": "SCN9A_HUMAN",
            "refseq_ac": "NP_001352465",
            "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 9 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Neuroendocrine sodium channel",
                    "type": "synonym"
                },
                {
                    "name": "PN1",
                    "type": "synonym"
                },
                {
                    "name": "Peripheral sodium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type IX subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.7",
                    "type": "synonym"
                },
                {
                    "name": "hNE-Na",
                    "type": "synonym"
                },
                {
                    "name": "neuroendocrine sodium channel",
                    "type": "synonym"
                },
                {
                    "name": "peripheral sodium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 9 subunit alpha isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 9 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type IX subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type IX, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type IX, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel alpha subunit Nav1.7",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCN9A",
                    "type": "recommended"
                },
                {
                    "name": "ETHA",
                    "type": "synonym"
                },
                {
                    "name": "FEB3B",
                    "type": "synonym"
                },
                {
                    "name": "GEFSP7",
                    "type": "synonym"
                },
                {
                    "name": "HSAN2D",
                    "type": "synonym"
                },
                {
                    "name": "NE-NA",
                    "type": "synonym"
                },
                {
                    "name": "NENA",
                    "type": "synonym"
                },
                {
                    "name": "Nav1.7",
                    "type": "synonym"
                },
                {
                    "name": "PN1",
                    "type": "synonym"
                },
                {
                    "name": "SCN9A",
                    "type": "synonym"
                },
                {
                    "name": "SFNP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15858-1",
            "evidence": [
                {
                    "id": "167400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/167400"
                },
                {
                    "id": "0111537",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111537"
                }
            ]
        },
        {
            "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": "0111537",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111537"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08562-1",
            "uniprot_ac": "O08562",
            "uniprot_id": "SCN9A_RAT",
            "refseq_ac": "NP_579823",
            "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 9 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "PN1",
                    "type": "synonym"
                },
                {
                    "name": "Peripheral sodium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type IX subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.7",
                    "type": "synonym"
                },
                {
                    "name": "peripheral sodium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 9 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type IX subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type 9, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type IX, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn9a",
                    "type": "recommended"
                },
                {
                    "name": "Nav1.7",
                    "type": "synonym"
                },
                {
                    "name": "PN1",
                    "type": "synonym"
                },
                {
                    "name": "Scn2a",
                    "type": "synonym"
                },
                {
                    "name": "Scn9a",
                    "type": "synonym"
                }
            ],
            "record_id": "O08562-1",
            "evidence": [
                {
                    "id": "0111537",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111537"
                }
            ]
        },
        {
            "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": "0111537",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111537"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111537"
}