{
    "disease_id": "DOID:0090112",
    "recommended_name": {
        "id": "DOID:0090112",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090112",
        "name": "Nasu-Hakola disease",
        "description": "A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0090112",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090112",
            "name": "NHD",
            "description": ""
        },
        {
            "id": "DOID:0090112",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090112",
            "name": "PLO-SL",
            "description": ""
        },
        {
            "id": "DOID:0090112",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090112",
            "name": "PLOSL",
            "description": ""
        },
        {
            "id": "DOID:0090112",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090112",
            "name": "progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease",
            "description": ""
        },
        {
            "id": "DOID:0090112",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090112",
            "name": "presenile dementia with bone cysts",
            "description": ""
        },
        {
            "id": "DOID:0090112",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090112",
            "name": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009092",
            "name": "Nasu-Hakola disease",
            "description": "Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities."
        },
        {
            "id": "MONDO:0009092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009092",
            "name": "PLOSL",
            "description": ""
        },
        {
            "id": "MONDO:0009092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009092",
            "name": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009092",
            "name": "progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease",
            "description": ""
        },
        {
            "id": "MONDO:0009092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009092",
            "name": "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL",
            "description": ""
        },
        {
            "id": "MONDO:0009092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009092",
            "name": "NHD",
            "description": ""
        },
        {
            "id": "MONDO:0009092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009092",
            "name": "brain-bone-fat disease",
            "description": ""
        },
        {
            "id": "MONDO:0009092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009092",
            "name": "PLO-SL",
            "description": ""
        },
        {
            "id": "MONDO:0009092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009092",
            "name": "presenile dementia with bone cysts",
            "description": ""
        },
        {
            "id": "MONDO:0009092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009092",
            "name": "dementia, progressive, with lipomembranous polycystic osteodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009092",
            "name": "dementia, prefrontal, with bone cysts",
            "description": ""
        },
        {
            "id": "MONDO:0009092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009092",
            "name": "Nasu-Hakola disease",
            "description": ""
        },
        {
            "id": "MIM:221770",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/221770",
            "name": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1",
            "description": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1"
        }
    ]
}