{
    "disease_id": "DOID:0080329",
    "recommended_name": {
        "id": "DOID:0080329",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080329",
        "name": "cold-induced sweating syndrome 1",
        "description": "A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention."
    },
    "synonyms": [
        {
            "id": "MONDO:0010091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010091",
            "name": "Cold-induced sweating syndrome 1",
            "description": "Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly."
        },
        {
            "id": "MONDO:0010091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010091",
            "name": "Crisponi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010091",
            "name": "cold-induced sweating syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010091",
            "name": "CISS1",
            "description": ""
        },
        {
            "id": "MONDO:0010091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010091",
            "name": "cold-induced sweating syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010091",
            "name": "Cold-induced sweating syndrome 1",
            "description": "Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly."
        },
        {
            "id": "MONDO:0010091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010091",
            "name": "Crisponi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010091",
            "name": "cold-induced sweating syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010091",
            "name": "CISS1",
            "description": ""
        },
        {
            "id": "MONDO:0010091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010091",
            "name": "cold-induced sweating syndrome 1",
            "description": ""
        },
        {
            "id": "MIM:272430",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/272430",
            "name": "Crisponi/Cold-induced sweating syndrome 1",
            "description": "Crisponi/Cold-induced sweating syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080329"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080329",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080329",
            "categories": []
        },
        {
            "id": "MONDO:0010091",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010091",
            "categories": []
        },
        {
            "id": "MIM:272430",
            "database": "MIM",
            "url": "https://www.omim.org/entry/272430",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T972-1",
            "uniprot_ac": "A0AB32T972",
            "uniprot_id": "A0AB32T972_DANRE",
            "refseq_ac": "XP_068072434",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytokine receptor-like factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Cytokine-like factor 1",
                    "type": "synonym"
                },
                {
                    "name": "cytokine receptor-like factor 1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "crlf1b",
                    "type": "recommended"
                },
                {
                    "name": "clf-1.b",
                    "type": "synonym"
                },
                {
                    "name": "crlf1b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:172222",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T972-1",
            "evidence": [
                {
                    "id": "0080329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080329"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JM58-1",
            "uniprot_ac": "Q9JM58",
            "uniprot_id": "CRLF1_MOUSE",
            "refseq_ac": "NP_061297",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytokine receptor-like factor 1",
                    "type": "recommended"
                },
                {
                    "name": "CLF-1",
                    "type": "synonym"
                },
                {
                    "name": "CRLM-3",
                    "type": "synonym"
                },
                {
                    "name": "Cytokine receptor-like molecule 3",
                    "type": "synonym"
                },
                {
                    "name": "Cytokine-like factor 1",
                    "type": "synonym"
                },
                {
                    "name": "NR6",
                    "type": "synonym"
                },
                {
                    "name": "Novel cytokine receptor 6",
                    "type": "synonym"
                },
                {
                    "name": "cytokine receptor-like factor 1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytokine receptor-like molecule 3",
                    "type": "synonym"
                },
                {
                    "name": "cytokine-like factor 1",
                    "type": "synonym"
                },
                {
                    "name": "novel cytokine receptor 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crlf1",
                    "type": "recommended"
                },
                {
                    "name": "CLF-1",
                    "type": "synonym"
                },
                {
                    "name": "CRLM-3",
                    "type": "synonym"
                },
                {
                    "name": "CRLM3",
                    "type": "synonym"
                },
                {
                    "name": "Crlf1",
                    "type": "synonym"
                },
                {
                    "name": "Crlm3",
                    "type": "synonym"
                },
                {
                    "name": "NR6.1",
                    "type": "synonym"
                },
                {
                    "name": "NR6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JM58-1",
            "evidence": [
                {
                    "id": "0080329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080329"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75462-1",
            "uniprot_ac": "O75462",
            "uniprot_id": "CRLF1_HUMAN",
            "refseq_ac": "NP_004741",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytokine receptor-like factor 1",
                    "type": "recommended"
                },
                {
                    "name": "CLF-1",
                    "type": "synonym"
                },
                {
                    "name": "Cytokine-like factor 1",
                    "type": "synonym"
                },
                {
                    "name": "ZcytoR5",
                    "type": "synonym"
                },
                {
                    "name": "class I cytokine receptor",
                    "type": "synonym"
                },
                {
                    "name": "cytokine receptor-like factor 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytokine type 1 receptor CRLP-1",
                    "type": "synonym"
                },
                {
                    "name": "cytokine-like factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRLF1",
                    "type": "recommended"
                },
                {
                    "name": "CISS1",
                    "type": "synonym"
                },
                {
                    "name": "CISS",
                    "type": "synonym"
                },
                {
                    "name": "CLF-1",
                    "type": "synonym"
                },
                {
                    "name": "CLF",
                    "type": "synonym"
                },
                {
                    "name": "CRLF1",
                    "type": "synonym"
                },
                {
                    "name": "NR6",
                    "type": "synonym"
                },
                {
                    "name": "PRO327",
                    "type": "synonym"
                },
                {
                    "name": "zcytor5",
                    "type": "synonym"
                }
            ],
            "record_id": "O75462-1",
            "evidence": [
                {
                    "id": "272430",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/272430"
                },
                {
                    "id": "0080329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080329"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZIV9-1",
            "uniprot_ac": "D3ZIV9",
            "uniprot_id": "D3ZIV9_RAT",
            "refseq_ac": "XP_038950259",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytokine receptor-like factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Cytokine-like factor 1",
                    "type": "synonym"
                },
                {
                    "name": "cytokine receptor-like factor 1 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crlf1",
                    "type": "recommended"
                },
                {
                    "name": "Crlf1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZIV9-1",
            "evidence": [
                {
                    "id": "0080329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080329"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11442-1",
            "uniprot_ac": "P11442",
            "uniprot_id": "CLH1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Clathrin heavy chain 1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Cltc",
                    "type": "recommended"
                }
            ],
            "record_id": "P11442-1",
            "evidence": [
                {
                    "id": "0080329",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080329"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080329"
}