{
    "disease_id": "DOID:0080296", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033486", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033486", 
            "name": "leukodystrophy, hypomyelinating, 14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033486", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033486", 
            "name": "HLD14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033486", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033486", 
            "name": "leukodystrophy, hypomyelinating, 14; HLD14"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080296", 
        "description": "A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080296", 
        "name": "hypomyelinating leukodystrophy 14"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080296#disease-associations", 
            "id": "0080296", 
            "database": "Alliance of Genome Resources"
        }
    ]
}