{
    "disease_id": "DOID:0060797", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013722", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013722", 
            "name": "leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; HLD8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013722", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013722", 
            "name": "POLR3B leukodystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013722", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013722", 
            "name": "leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013722", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013722", 
            "name": "HLD8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013722", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013722", 
            "name": "leukodystrophy caused by mutation in POLR3B"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060797", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060797", 
            "name": "HLD8"
        }, 
        {
            "url": "https://www.omim.org/entry/614381", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:614381", 
            "name": "Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060797", 
        "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060797", 
        "name": "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/614381", 
            "id": "614381", 
            "database": "MIM"
        }
    ]
}