{
    "disease_id": "DOID:0090125", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011865", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011865", 
            "name": "brain small vessel disease with or without ocular anomalies; BSVD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011865", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011865", 
            "name": "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011865", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011865", 
            "name": "BSVD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011865", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011865", 
            "name": "infantile hemiparesis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011865", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011865", 
            "name": "leukoencephalopathy with Axenfeld-Rieger anomaly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011865", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011865", 
            "name": "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011865", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011865", 
            "name": "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011865", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011865", 
            "name": "brain small vessel disease with Axenfeld-Rieger anomaly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011865", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011865", 
            "name": "COL4A1-related brain small vessel disease with hemorrhage"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011865", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011865", 
            "name": "brain small vessel disease with or without ocular anomalies"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011865", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011865", 
            "name": "leukoencephalopathy with Axenfeld-Riegar anomaly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011865", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011865", 
            "name": "brain small vessel disease with hemorrhage"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011865", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011865", 
            "name": "brain small vessel disease with Axenfeld-Riegar anomaly"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090125", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090125", 
            "name": "BSVD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090125", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090125", 
            "name": "brain small vessel disease with Axenfeld-Riegar anomaly"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090125", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090125", 
            "name": "brain small vessel disease with hemorrhage"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090125", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090125", 
            "name": "infantile hemiparesis"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090125", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090125", 
            "name": "leukoencephalopathy with Axenfeld-Riegar anomaly"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090125", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090125", 
            "name": "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090125", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090125", 
            "name": "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090125", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090125", 
            "name": "COL4A1-related brain small vessel disease with hemorrhage"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090125", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090125", 
            "name": "brain small vessel disease with or without ocular anomalies"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090125", 
        "description": "A brain disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090125", 
        "name": "COL4A1-related familial vascular leukoencephalopathy"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0090125#disease-associations", 
            "id": "0090125", 
            "database": "Alliance of Genome Resources"
        }
    ]
}