{
    "disease_id": "DOID:0080163", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014912", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014912", 
            "name": "infantile-onset periodic fever-panniculitis-dermatosis syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014912", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014912", 
            "name": "otulin-related autoinflammatory syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014912", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014912", 
            "name": "AUTOINFLAMMATION, panniculitis, and dermatosis syndrome; AIPDS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014912", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014912", 
            "name": "autoinflammation, panniculitis and dermatosis syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014912", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014912", 
            "name": "Autoinflammation, panniculitis, and dermatosis syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014912", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014912", 
            "name": "otulin deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014912", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014912", 
            "name": "ORAS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014912", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014912", 
            "name": "AIPDS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080163", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080163", 
            "name": "otulin-related autoinflammatory syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080163", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080163", 
            "name": "autoinflammation, panniculitis and dermatosis syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080163", 
        "description": "An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080163", 
        "name": "otulipenia"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080163#disease-associations", 
            "id": "0080163", 
            "database": "Alliance of Genome Resources"
        }
    ]
}