{
    "disease_id": "DOID:0060785",
    "recommended_name": {
        "id": "DOID:0060785",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060785",
        "name": "typical adult-onset autosomal dominant demyelinating leukodystrophy",
        "description": "An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes."
    },
    "synonyms": [
        {
            "id": "DOID:0060785",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060785",
            "name": "ADLD",
            "description": ""
        },
        {
            "id": "DOID:0060785",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060785",
            "name": "adult-onset autosomal dominant leukodystrophy",
            "description": ""
        },
        {
            "id": "DOID:0060785",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060785",
            "name": "autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease",
            "description": ""
        },
        {
            "id": "MONDO:0700295",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700295",
            "name": "leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical",
            "description": ""
        },
        {
            "id": "MIM:169500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/169500",
            "name": "Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical",
            "description": "Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060785"
    ],
    "unlinked_id_list": []
}