{
    "disease_id": "DOID:0112315",
    "recommended_name": {
        "id": "DOID:0112315",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112315",
        "name": "brain small vessel disease 3",
        "description": "A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11."
    },
    "synonyms": [
        {
            "id": "DOID:0112315",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112315",
            "name": "BSVD3",
            "description": ""
        },
        {
            "id": "MONDO:0100105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100105",
            "name": "brain small vessel disease 3",
            "description": "An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration."
        },
        {
            "id": "MONDO:0100105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100105",
            "name": "BSVD3",
            "description": ""
        },
        {
            "id": "MIM:618360",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618360",
            "name": "Brain small vessel disease 3",
            "description": "Brain small vessel disease 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112315"
    ],
    "unlinked_id_list": []
}