{
    "disease_id": "DOID:0060792", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014666", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014666", 
            "name": "leukodystrophy, hypomyelinating, 11"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014666", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014666", 
            "name": "leukodystrophy, hypomyelinating, 11; HLD11"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014666", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014666", 
            "name": "POLR1C leukodystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014666", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014666", 
            "name": "leukodystrophy caused by mutation in POLR1C"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014666", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014666", 
            "name": "hypomyelinating leukodystrophy type 11"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014666", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014666", 
            "name": "HLD11"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014666", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014666", 
            "name": "leukodystrophy, hypomyelinating, type 11"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060792", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060792", 
            "name": "HLD11"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060792", 
        "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060792", 
        "name": "hypomyelinating leukodystrophy 11"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060792#disease-associations", 
            "id": "0060792", 
            "database": "Alliance of Genome Resources"
        }
    ]
}
