{
    "disease_id": "DOID:0060936",
    "recommended_name": {
        "id": "DOID:0060936",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060936",
        "name": "dystonia 28, childhood-onset",
        "description": "A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disabilitythat has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0060936",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060936",
            "name": "DYSTONIA 28, CHILDHOOD-ONSET",
            "description": ""
        },
        {
            "id": "DOID:0060936",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060936",
            "name": "DYT28",
            "description": ""
        },
        {
            "id": "MONDO:0015004",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015004",
            "name": "dystonia 28, childhood-onset",
            "description": "Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene."
        },
        {
            "id": "MONDO:0015004",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015004",
            "name": "DYT28",
            "description": ""
        },
        {
            "id": "MONDO:0015004",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015004",
            "name": "KMT2B dystonic disorder",
            "description": ""
        },
        {
            "id": "MONDO:0015004",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015004",
            "name": "dystonia 28, childhood-onset",
            "description": ""
        },
        {
            "id": "MONDO:0015004",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015004",
            "name": "dystonia 28, childhood-onset; DYT28",
            "description": ""
        },
        {
            "id": "MONDO:0015004",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015004",
            "name": "dystonic disorder caused by mutation in KMT2B",
            "description": ""
        },
        {
            "id": "MIM:617284",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617284",
            "name": "Dystonia 28, childhood-onset",
            "description": "Dystonia 28, childhood-onset"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060936"
    ],
    "unlinked_id_list": []
}