{
    "disease_id": "DOID:0081354",
    "recommended_name": {
        "id": "DOID:0081354",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081354",
        "name": "congenital myopathy 22A",
        "description": "A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B."
    },
    "synonyms": [
        {
            "id": "DOID:0081354",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081354",
            "name": "classic congenital myopathy 22A",
            "description": ""
        },
        {
            "id": "MONDO:0957247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957247",
            "name": "congenital myopathy 22A, classic",
            "description": ""
        },
        {
            "id": "MIM:620351",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620351",
            "name": "Congenital myopathy 22A, classic",
            "description": "Congenital myopathy 22A, classic"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081354"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081354",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081354",
            "categories": []
        },
        {
            "id": "MONDO:0957247",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957247",
            "categories": []
        },
        {
            "id": "MIM:620351",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620351",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "0081354",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081354"
                }
            ]
        },
        {
            "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": "0081354",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081354"
                }
            ]
        },
        {
            "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": "0081354",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081354"
                }
            ]
        },
        {
            "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": "620351",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620351"
                },
                {
                    "id": "0081354",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081354"
                }
            ]
        },
        {
            "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": "0081354",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081354"
                }
            ]
        },
        {
            "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": "0081354",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081354"
                }
            ]
        },
        {
            "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": "0081354",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081354"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081354"
}