{
    "disease_id": "DOID:0080163",
    "recommended_name": {
        "id": "DOID:0080163",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080163",
        "name": "otulipenia",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0080163",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080163",
            "name": "otulin-related autoinflammatory syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080163",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080163",
            "name": "autoinflammation, panniculitis and dermatosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014912",
            "name": "infantile-onset periodic fever-panniculitis-dermatosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014912",
            "name": "AIPDS",
            "description": ""
        },
        {
            "id": "MONDO:0014912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014912",
            "name": "Autoinflammation, panniculitis, and dermatosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014912",
            "name": "ORAS",
            "description": ""
        },
        {
            "id": "MONDO:0014912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014912",
            "name": "autoinflammation, panniculitis and dermatosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014912",
            "name": "otulin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014912",
            "name": "otulin-related autoinflammatory syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014912",
            "name": "otulipenia",
            "description": ""
        },
        {
            "id": "MONDO:0014912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014912",
            "name": "AUTOINFLAMMATION, panniculitis, and dermatosis syndrome",
            "description": ""
        },
        {
            "id": "MIM:617099",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617099",
            "name": "Autoinflammation, panniculitis, and dermatosis syndrome",
            "description": "Autoinflammation, panniculitis, and dermatosis syndrome"
        }
    ]
}