{
    "disease_id": "DOID:0080329",
    "recommended_name": {
        "id": "DOID:0080329",
        "resource": "Disease Ontology",
        "url": "http://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": "Crisponi syndrome",
            "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": "CISS1",
            "description": ""
        },
        {
            "id": "MONDO:0010091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010091",
            "name": "CRISPONI/cold-induced sweating syndrome 1; CISS1",
            "description": ""
        },
        {
            "id": "MONDO:0010091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010091",
            "name": "Crisponi/cold-induced sweating syndrome 1",
            "description": ""
        },
        {
            "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": "muscle contractions, Tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death",
            "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; CISS1",
            "description": ""
        },
        {
            "id": "MONDO:0010091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010091",
            "name": "Sohar-Crisponi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010091",
            "name": "cold-induced sweating syndrome type 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"
        }
    ]
}