{
    "disease_id": "DOID:0111538",
    "recommended_name": {
        "id": "DOID:0111538",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111538",
        "name": "paramyotonia congenita of Von Eulenburg",
        "description": "A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111538",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111538",
            "name": "Eulenburg disease",
            "description": ""
        },
        {
            "id": "DOID:0111538",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111538",
            "name": "PMC",
            "description": ""
        },
        {
            "id": "DOID:0111538",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111538",
            "name": "Von Eulenburg paramyotonia congenita",
            "description": ""
        },
        {
            "id": "DOID:0111538",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111538",
            "name": "myotonia congenita intermittens",
            "description": ""
        },
        {
            "id": "DOID:0111538",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111538",
            "name": "paralysis periodica paramyotonica",
            "description": ""
        },
        {
            "id": "DOID:0111538",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111538",
            "name": "paramyotonia congenita",
            "description": ""
        },
        {
            "id": "MONDO:0008195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008195",
            "name": "paramyotonia congenita of Von Eulenburg",
            "description": "Paramyotonia congenita of Von Eulenburg is characterized by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3)."
        },
        {
            "id": "MONDO:0008195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008195",
            "name": "paramyotonia congenita",
            "description": ""
        },
        {
            "id": "MONDO:0008195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008195",
            "name": "paramyotonia congenita of Von Eulenburg",
            "description": ""
        },
        {
            "id": "MONDO:0008195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008195",
            "name": "Eulenburg disease",
            "description": ""
        },
        {
            "id": "MONDO:0008195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008195",
            "name": "PMC",
            "description": ""
        },
        {
            "id": "MONDO:0008195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008195",
            "name": "Von Eulenburg paramyotonia congenita",
            "description": ""
        },
        {
            "id": "MONDO:0008195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008195",
            "name": "myotonia congenita intermittens",
            "description": ""
        },
        {
            "id": "MIM:168300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/168300",
            "name": "Paramyotonia congenita",
            "description": "Paramyotonia congenita"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111538"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111538",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111538",
            "categories": []
        },
        {
            "id": "MONDO:0008195",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008195",
            "categories": []
        },
        {
            "id": "MIM:168300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/168300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q20JQ7-1",
            "uniprot_ac": "Q20JQ7",
            "uniprot_id": "SC4AB_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 4 subunit alpha B",
                    "type": "recommended"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.4b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "scn4ab",
                    "type": "recommended"
                },
                {
                    "name": "Nav1.4b",
                    "type": "synonym"
                },
                {
                    "name": "nav1.4b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q20JQ7-1",
            "evidence": [
                {
                    "id": "0111538",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111538"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2XVR3-1",
            "uniprot_ac": "Q2XVR3",
            "uniprot_id": "SC4AA_DANRE",
            "refseq_ac": "NP_001034914",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 4 subunit alpha A",
                    "type": "recommended"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.4a",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 4 subunit alpha A",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel Nav1.4a",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.4a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "scn4aa",
                    "type": "recommended"
                },
                {
                    "name": "Na_v 1.4a",
                    "type": "synonym"
                },
                {
                    "name": "Nav1.4a",
                    "type": "synonym"
                },
                {
                    "name": "nav1.4a",
                    "type": "synonym"
                },
                {
                    "name": "scn4aa",
                    "type": "synonym"
                },
                {
                    "name": "zscn3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2XVR3-1",
            "evidence": [
                {
                    "id": "0111538",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111538"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ER60-1",
            "uniprot_ac": "Q9ER60",
            "uniprot_id": "SCN4A_MOUSE",
            "refseq_ac": "NP_573462",
            "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 4 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Sodium channel protein skeletal muscle subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type IV subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.4",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel alpha-subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein skeletal muscle subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 4 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type IV subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type IV, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn4a",
                    "type": "recommended"
                },
                {
                    "name": "Nav1.4",
                    "type": "synonym"
                },
                {
                    "name": "Scn4a",
                    "type": "synonym"
                },
                {
                    "name": "SkM1",
                    "type": "synonym"
                },
                {
                    "name": "mH2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ER60-1",
            "evidence": [
                {
                    "id": "0111538",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111538"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35499-1",
            "uniprot_ac": "P35499",
            "uniprot_id": "SCN4A_HUMAN",
            "refseq_ac": "NP_000325",
            "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 4 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "CTC-264K15.6",
                    "type": "synonym"
                },
                {
                    "name": "SkM1",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein skeletal muscle subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type IV subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.4",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle sodium channel alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle voltage-dependent sodium channel type IV alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein skeletal muscle subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 4 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type IV subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type IV, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCN4A",
                    "type": "recommended"
                },
                {
                    "name": "CMS16",
                    "type": "synonym"
                },
                {
                    "name": "CMYO22A",
                    "type": "synonym"
                },
                {
                    "name": "CMYP22A",
                    "type": "synonym"
                },
                {
                    "name": "HOKPP2",
                    "type": "synonym"
                },
                {
                    "name": "HYKPP",
                    "type": "synonym"
                },
                {
                    "name": "HYPP",
                    "type": "synonym"
                },
                {
                    "name": "NAC1A",
                    "type": "synonym"
                },
                {
                    "name": "Na(V)1.4",
                    "type": "synonym"
                },
                {
                    "name": "Nav1.4",
                    "type": "synonym"
                },
                {
                    "name": "SCN4A",
                    "type": "synonym"
                },
                {
                    "name": "SkM1",
                    "type": "synonym"
                }
            ],
            "record_id": "P35499-1",
            "evidence": [
                {
                    "id": "168300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/168300"
                },
                {
                    "id": "0111538",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111538"
                }
            ]
        },
        {
            "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": "0111538",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111538"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15390-1",
            "uniprot_ac": "P15390",
            "uniprot_id": "SCN4A_RAT",
            "refseq_ac": "NP_037310",
            "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 4 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Mu-1",
                    "type": "synonym"
                },
                {
                    "name": "SkM1",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein skeletal muscle subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type IV subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel voltage-gated type IV alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.4",
                    "type": "synonym"
                },
                {
                    "name": "mu-1",
                    "type": "synonym"
                },
                {
                    "name": "skM1",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein skeletal muscle subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 4 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type IV subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type 4, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type 4, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type IV, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type IV, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn4a",
                    "type": "recommended"
                },
                {
                    "name": "NCHVS",
                    "type": "synonym"
                },
                {
                    "name": "Nav1.4",
                    "type": "synonym"
                },
                {
                    "name": "Scn4a",
                    "type": "synonym"
                },
                {
                    "name": "microI",
                    "type": "synonym"
                }
            ],
            "record_id": "P15390-1",
            "evidence": [
                {
                    "id": "0111538",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111538"
                }
            ]
        },
        {
            "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": "0111538",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111538"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111538"
}