{
    "disease_id": "DOID:0050553", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0054698", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0054698", 
            "name": "proteasome-associated autoinflammatory syndrome 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0054698", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0054698", 
            "name": "Autoinflammation, lipodystrophy, and dermatosis syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0054698", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0054698", 
            "name": "proteasome-associated autoinflammatory syndrome 1; PRAAS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0054698", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0054698", 
            "name": "Chronic Atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0054698", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0054698", 
            "name": "Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0054698", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0054698", 
            "name": "Nakajo-Nishimura syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0054698", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0054698", 
            "name": "PRAAS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0054698", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0054698", 
            "name": "proteasome-associated autoinflammatory syndrome 1, digenic"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050553", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050553", 
            "name": "JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY"
        }, 
        {
            "url": "https://www.omim.org/entry/256040", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:256040", 
            "name": "Proteasome-associated autoinflammatory syndrome 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050553", 
        "description": "A syndrome that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PSMB8 on chromosome 6p21.32.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050553", 
        "name": "JMP syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/256040", 
            "id": "256040", 
            "database": "MIM"
        }
    ]
}
