{
    "disease_id": "DOID:0051015",
    "recommended_name": {
        "id": "DOID:0051015",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051015",
        "name": "adult onset demyelinating leukodystrophy",
        "description": "A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment."
    },
    "synonyms": [
        {
            "id": "DOID:0051015",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051015",
            "name": "autosomal dominant adult-onset demyelinating leukodystrophy",
            "description": ""
        },
        {
            "id": "DOID:0051015",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051015",
            "name": "Autosomal dominant leukodystrophy with autonomic 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": "DOID:0051014",
            "label": "atypical autosomal dominant adult-onset demyelinating leukodystrophy",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060785",
            "label": "typical adult-onset autosomal dominant demyelinating leukodystrophy",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0051014",
        "DOID:0060785",
        "DOID:0051015"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051015",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051015",
            "categories": []
        },
        {
            "id": "MONDO:0700295",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700295",
            "categories": []
        },
        {
            "id": "MIM:169500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/169500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P20700-1",
            "uniprot_ac": "P20700",
            "uniprot_id": "LMNB1_HUMAN",
            "refseq_ac": "NP_005564",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lamin-B1",
                    "type": "recommended"
                },
                {
                    "name": "lamin-B1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LMNB1",
                    "type": "recommended"
                },
                {
                    "name": "ADLD",
                    "type": "synonym"
                },
                {
                    "name": "LMN2",
                    "type": "synonym"
                },
                {
                    "name": "LMNB1",
                    "type": "synonym"
                },
                {
                    "name": "LMNB",
                    "type": "synonym"
                },
                {
                    "name": "LMN",
                    "type": "synonym"
                },
                {
                    "name": "MCPH26",
                    "type": "synonym"
                }
            ],
            "record_id": "P20700-1",
            "evidence": [
                {
                    "id": "169500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/169500"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051015"
}