{
    "disease_id": "DOID:0061228",
    "recommended_name": {
        "id": "DOID:0061228",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061228",
        "name": "autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2",
        "description": "A CADASIL characterized by alopecia, spondylosis, and progressive motor dysfunction and dementia. Onset is usually in the second or third decade that has_material_basis_in homozygous or compound heterozygous mutation in the HTRA1 gene on chromosome 10q26."
    },
    "synonyms": [
        {
            "id": "MONDO:0010829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010829",
            "name": "CARASIL syndrome",
            "description": "CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia."
        },
        {
            "id": "MONDO:0010829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010829",
            "name": "CARASIL",
            "description": ""
        },
        {
            "id": "MONDO:0010829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010829",
            "name": "Maeda syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010829",
            "name": "cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010829",
            "name": "cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010829",
            "name": "cerebrovascular disease with thin skin, alopecia, and disc disease",
            "description": ""
        },
        {
            "id": "MIM:600142",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600142",
            "name": "Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2",
            "description": "Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061228"
    ],
    "unlinked_id_list": []
}