{
    "disease_id": "DOID:0081336",
    "recommended_name": {
        "id": "DOID:0081336",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081336",
        "name": "Thomsen disease",
        "description": "A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34."
    },
    "synonyms": [
        {
            "id": "DOID:0081336",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081336",
            "name": "Congenital myotonia, autosomal dominant form",
            "description": ""
        },
        {
            "id": "DOID:0081336",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081336",
            "name": "Thomsen's disease",
            "description": ""
        },
        {
            "id": "MONDO:0008055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008055",
            "name": "myotonia congenita, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008055",
            "name": "Thomsen and Becker disease",
            "description": ""
        },
        {
            "id": "MONDO:0008055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008055",
            "name": "Thomsen disease",
            "description": ""
        },
        {
            "id": "MONDO:0008055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008055",
            "name": "myotonia congenita, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008055",
            "name": "myotonia congenita, dominant",
            "description": ""
        },
        {
            "id": "MIM:160800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/160800",
            "name": "Myotonia congenita, autosomal dominant",
            "description": "Myotonia congenita, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081336"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081336",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081336",
            "categories": []
        },
        {
            "id": "MONDO:0008055",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008055",
            "categories": []
        },
        {
            "id": "MIM:160800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/160800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q5M3-1",
            "uniprot_ac": "F1Q5M3",
            "uniprot_id": "F1Q5M3_DANRE",
            "refseq_ac": "XP_009292335",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein 1a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "clcn1a",
                    "type": "recommended"
                },
                {
                    "name": "clcn1a",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-14o18.5",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q5M3-1",
            "evidence": [
                {
                    "id": "0081336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58HJB7-1",
            "uniprot_ac": "A0AC58HJB7",
            "uniprot_id": "A0AC58HJB7_DANRE",
            "refseq_ac": "XP_073782104",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein 1 isoform X2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 1 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "clcn1b",
                    "type": "recommended"
                },
                {
                    "name": "clcn1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HJB7-1",
            "evidence": [
                {
                    "id": "0081336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64347-1",
            "uniprot_ac": "Q64347",
            "uniprot_id": "CLCN1_MOUSE",
            "refseq_ac": "NP_038519",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein, skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "ClC-1",
                    "type": "synonym"
                },
                {
                    "name": "arrested development of righting response",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 1",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein, skeletal muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcn1",
                    "type": "recommended"
                },
                {
                    "name": "Clc-1",
                    "type": "synonym"
                },
                {
                    "name": "Clc1",
                    "type": "synonym"
                },
                {
                    "name": "Clcn1",
                    "type": "synonym"
                },
                {
                    "name": "SMCC1",
                    "type": "synonym"
                },
                {
                    "name": "adr",
                    "type": "synonym"
                },
                {
                    "name": "mto",
                    "type": "synonym"
                },
                {
                    "name": "myotonia",
                    "type": "synonym"
                },
                {
                    "name": "nmf355",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64347-1",
            "evidence": [
                {
                    "id": "0081336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35523-1",
            "uniprot_ac": "P35523",
            "uniprot_id": "CLCN1_HUMAN",
            "refseq_ac": "NP_000074",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein, skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "ClC-1",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 1, skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 1",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein, skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, voltage-sensitive 1",
                    "type": "synonym"
                },
                {
                    "name": "clC-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLCN1",
                    "type": "recommended"
                },
                {
                    "name": "CLC1",
                    "type": "synonym"
                },
                {
                    "name": "CLCN1",
                    "type": "synonym"
                }
            ],
            "record_id": "P35523-1",
            "evidence": [
                {
                    "id": "160800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/160800"
                },
                {
                    "id": "0081336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35524-1",
            "uniprot_ac": "P35524",
            "uniprot_id": "CLCN1_RAT",
            "refseq_ac": "NP_037279",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein, skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "ClC-1",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 1, skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 1",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein, skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, voltage-sensitive 1",
                    "type": "synonym"
                },
                {
                    "name": "clC-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcn1",
                    "type": "recommended"
                },
                {
                    "name": "Clcn1",
                    "type": "synonym"
                },
                {
                    "name": "SMCC",
                    "type": "synonym"
                }
            ],
            "record_id": "P35524-1",
            "evidence": [
                {
                    "id": "0081336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63270-1",
            "uniprot_ac": "Q63270",
            "uniprot_id": "ACOHC_RAT",
            "refseq_ac": "NP_059017",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoplasmic aconitate hydratase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Aconitase",
                    "type": "synonym"
                },
                {
                    "name": "Citrate hydro-lyase",
                    "type": "synonym"
                },
                {
                    "name": "IRE-BP 1",
                    "type": "synonym"
                },
                {
                    "name": "IRP1",
                    "type": "synonym"
                },
                {
                    "name": "Iron regulatory protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Iron-responsive element-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "aconitase 1, soluble",
                    "type": "synonym"
                },
                {
                    "name": "citrate hydro-lyase",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic aconitate hydratase",
                    "type": "synonym"
                },
                {
                    "name": "iron regulatory protein 1",
                    "type": "synonym"
                },
                {
                    "name": "iron-responsive element-binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aco1",
                    "type": "recommended"
                },
                {
                    "name": "AH",
                    "type": "synonym"
                },
                {
                    "name": "Aco1",
                    "type": "synonym"
                },
                {
                    "name": "Acon1",
                    "type": "synonym"
                },
                {
                    "name": "IRP1",
                    "type": "synonym"
                },
                {
                    "name": "Ireb1",
                    "type": "synonym"
                },
                {
                    "name": "Irebp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63270-1",
            "evidence": [
                {
                    "id": "0081336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGH7-1",
            "uniprot_ac": "Q9VGH7",
            "uniprot_id": "CLCN2_DROME",
            "refseq_ac": "NP_001097751",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CG31116-PG",
                    "type": "synonym"
                },
                {
                    "name": "Chloride channel-a",
                    "type": "synonym"
                },
                {
                    "name": "ClC-2",
                    "type": "synonym"
                },
                {
                    "name": "ClC-a-PG",
                    "type": "synonym"
                },
                {
                    "name": "DmClC-2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel-a, isoform G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ClC-a",
                    "type": "recommended"
                },
                {
                    "name": "CG14726",
                    "type": "synonym"
                },
                {
                    "name": "CG31116",
                    "type": "synonym"
                },
                {
                    "name": "CG6942",
                    "type": "synonym"
                },
                {
                    "name": "CLC-2",
                    "type": "synonym"
                },
                {
                    "name": "ClC-a",
                    "type": "synonym"
                },
                {
                    "name": "Clc-a",
                    "type": "synonym"
                },
                {
                    "name": "DmClC-2",
                    "type": "synonym"
                },
                {
                    "name": "DmClC-a",
                    "type": "synonym"
                },
                {
                    "name": "DmClCa",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31116",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31116",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0037951",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGH7-1",
            "evidence": [
                {
                    "id": "0081336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50238-1",
            "uniprot_ac": "P50238",
            "uniprot_id": "CRIP1_HUMAN",
            "refseq_ac": "NP_001302",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cysteine-rich protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CRHP",
                    "type": "synonym"
                },
                {
                    "name": "CRIP",
                    "type": "synonym"
                },
                {
                    "name": "CRP-1",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine-rich heart protein",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine-rich intestinal protein",
                    "type": "synonym"
                },
                {
                    "name": "cysteine-rich heart protein",
                    "type": "synonym"
                },
                {
                    "name": "cysteine-rich intestinal protein",
                    "type": "synonym"
                },
                {
                    "name": "cysteine-rich protein 1 (intestinal)",
                    "type": "synonym"
                },
                {
                    "name": "cysteine-rich protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hCRHP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRIP1",
                    "type": "recommended"
                },
                {
                    "name": "CRHP",
                    "type": "synonym"
                },
                {
                    "name": "CRIP1",
                    "type": "synonym"
                },
                {
                    "name": "CRIP",
                    "type": "synonym"
                },
                {
                    "name": "CRP-1",
                    "type": "synonym"
                },
                {
                    "name": "CRP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P50238-1",
            "evidence": [
                {
                    "id": "0081336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081336"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081336"
}