{
    "disease_id": "DOID:0060386", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013739", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013739", 
            "name": "chilblain lupus 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013739", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013739", 
            "name": "chilblain lupus 2; CHBL2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013739", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013739", 
            "name": "chilblain lupus caused by mutation in SAMHD1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013739", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013739", 
            "name": "CHBL2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013739", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013739", 
            "name": "Chilblain lupus type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013739", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013739", 
            "name": "SAMHD1 chilblain lupus"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060386", 
        "description": "A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060386", 
        "name": "Chilblain lupus"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060386#disease-associations", 
            "id": "0060386", 
            "database": "Alliance of Genome Resources"
        }
    ]
}
