{
    "disease_id": "DOID:0050452",
    "recommended_name": {
        "id": "DOID:0050452",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050452",
        "name": "mevalonic aciduria",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0050452",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050452",
            "name": "Mevalonate Kinase Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012481",
            "name": "mevalonic aciduria",
            "description": "Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes."
        },
        {
            "id": "MONDO:0012481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012481",
            "name": "HIDS",
            "description": ""
        },
        {
            "id": "MONDO:0012481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012481",
            "name": "MKD",
            "description": ""
        },
        {
            "id": "MONDO:0012481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012481",
            "name": "MVA",
            "description": ""
        },
        {
            "id": "MONDO:0012481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012481",
            "name": "complete mevalonate kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012481",
            "name": "hyperimmunoglobulin D with periodic fever syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012481",
            "name": "mevalonic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0012481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012481",
            "name": "MEVA",
            "description": ""
        },
        {
            "id": "MONDO:0012481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012481",
            "name": "Mevalonicaciduria",
            "description": ""
        },
        {
            "id": "MIM:610377",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610377",
            "name": "Mevalonic aciduria",
            "description": "Mevalonic aciduria"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050452"
    ],
    "unlinked_id_list": []
}