{
    "disease_id": "DOID:0080330",
    "recommended_name": {
        "id": "DOID:0080330",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080330",
        "name": "cold-induced sweating syndrome 2",
        "description": "A cold-induced sweating syndrome that has_material_basis_in compound heterozygous mutation in the CLCF1 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0012467",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012467",
            "name": "cold-induced sweating syndrome 2",
            "description": "Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene."
        },
        {
            "id": "MONDO:0012467",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012467",
            "name": "CLCF1 cold-induced sweating syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012467",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012467",
            "name": "cold-induced sweating syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0012467",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012467",
            "name": "cold-induced sweating syndrome caused by mutation in CLCF1",
            "description": ""
        },
        {
            "id": "MONDO:0012467",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012467",
            "name": "cold-induced sweating syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012467",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012467",
            "name": "CISS2",
            "description": ""
        },
        {
            "id": "MIM:610313",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610313",
            "name": "Crisponi/Cold-induced sweating syndrome 2",
            "description": "Crisponi/Cold-induced sweating syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080330"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080330",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080330",
            "categories": []
        },
        {
            "id": "MONDO:0012467",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012467",
            "categories": []
        },
        {
            "id": "MIM:610313",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610313",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6T6-1",
            "uniprot_ac": "A0ACD6B6T6",
            "uniprot_id": "A0ACD6B6T6_DANRE",
            "refseq_ac": "NP_001429169",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cardiotrophin-like cytokine factor 1",
                    "type": "recommended"
                },
                {
                    "name": "B-cell-stimulating factor 3",
                    "type": "synonym"
                },
                {
                    "name": "Novel neurotrophin-1",
                    "type": "synonym"
                },
                {
                    "name": "cardiotrophin-like cytokine factor 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "clcf1",
                    "type": "recommended"
                },
                {
                    "name": "clcf1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-6i22.4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6T6-1",
            "evidence": [
                {
                    "id": "0080330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZM3-1",
            "uniprot_ac": "Q9QZM3",
            "uniprot_id": "CLCF1_MOUSE",
            "refseq_ac": "NP_001296967",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cardiotrophin-like cytokine factor 1",
                    "type": "recommended"
                },
                {
                    "name": "B-cell stimulating factor 3",
                    "type": "synonym"
                },
                {
                    "name": "B-cell-stimulating factor 3",
                    "type": "synonym"
                },
                {
                    "name": "BSF-3",
                    "type": "synonym"
                },
                {
                    "name": "NNT-1",
                    "type": "synonym"
                },
                {
                    "name": "Novel neurotrophin-1",
                    "type": "synonym"
                },
                {
                    "name": "cardiotrophin-like cytokine factor 1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophin-1/B-cell stimulating factor-3",
                    "type": "synonym"
                },
                {
                    "name": "novel neurotrophin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcf1",
                    "type": "recommended"
                },
                {
                    "name": "BSF-3",
                    "type": "synonym"
                },
                {
                    "name": "Bsf3",
                    "type": "synonym"
                },
                {
                    "name": "CLC",
                    "type": "synonym"
                },
                {
                    "name": "Clcf1",
                    "type": "synonym"
                },
                {
                    "name": "NNT-1",
                    "type": "synonym"
                },
                {
                    "name": "Nnt1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZM3-1",
            "evidence": [
                {
                    "id": "0080330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UBD9-1",
            "uniprot_ac": "Q9UBD9",
            "uniprot_id": "CLCF1_HUMAN",
            "refseq_ac": "NP_001159684",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cardiotrophin-like cytokine factor 1",
                    "type": "recommended"
                },
                {
                    "name": "B-cell stimulatory factor 3",
                    "type": "synonym"
                },
                {
                    "name": "B-cell-stimulating factor 3",
                    "type": "synonym"
                },
                {
                    "name": "BSF-3",
                    "type": "synonym"
                },
                {
                    "name": "CRLF1 associated cytokine-like factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Cardiotrophin-like cytokine",
                    "type": "synonym"
                },
                {
                    "name": "NNT-1",
                    "type": "synonym"
                },
                {
                    "name": "Novel neurotrophin-1",
                    "type": "synonym"
                },
                {
                    "name": "cardiotrophin-like cytokine factor 1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophin-1/B-cell stimulating factor-3",
                    "type": "synonym"
                },
                {
                    "name": "novel neurotrophin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLCF1",
                    "type": "recommended"
                },
                {
                    "name": "BSF-3",
                    "type": "synonym"
                },
                {
                    "name": "BSF3",
                    "type": "synonym"
                },
                {
                    "name": "CISS2",
                    "type": "synonym"
                },
                {
                    "name": "CLCF1",
                    "type": "synonym"
                },
                {
                    "name": "CLC",
                    "type": "synonym"
                },
                {
                    "name": "NNT-1",
                    "type": "synonym"
                },
                {
                    "name": "NNT1",
                    "type": "synonym"
                },
                {
                    "name": "NR6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UBD9-1",
            "evidence": [
                {
                    "id": "610313",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610313"
                },
                {
                    "id": "0080330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7EKG3-1",
            "uniprot_ac": "F7EKG3",
            "uniprot_id": "F7EKG3_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cardiotrophin-like cytokine factor 1",
                    "type": "recommended"
                },
                {
                    "name": "B-cell-stimulating factor 3",
                    "type": "synonym"
                },
                {
                    "name": "Novel neurotrophin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcf1",
                    "type": "recommended"
                }
            ],
            "record_id": "F7EKG3-1",
            "evidence": [
                {
                    "id": "0080330",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080330"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080330"
}