{
    "disease_id": "DOID:0050452", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012481", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012481", 
            "name": "HIDS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012481", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012481", 
            "name": "MEVA"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012481", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012481", 
            "name": "mevalonate kinase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012481", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012481", 
            "name": "MVA"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012481", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012481", 
            "name": "hyperimmunoglobulin D with periodic fever syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012481", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012481", 
            "name": "mevalonic aciduria; MEVA"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012481", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012481", 
            "name": "complete mevalonate kinase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012481", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012481", 
            "name": "MKD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012481", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012481", 
            "name": "Mevalonicaciduria"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050452", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050452", 
            "name": "Mevalonate Kinase Deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050452", 
        "description": "A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050452", 
        "name": "mevalonic aciduria"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/610377", 
            "id": "610377", 
            "database": "MIM"
        }
    ]
}