{
    "disease_id": "DOID:0111666",
    "recommended_name": {
        "id": "DOID:0111666",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111666",
        "name": "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome",
        "description": "A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111666",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111666",
            "name": "EPV",
            "description": ""
        },
        {
            "id": "DOID:0111666",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111666",
            "name": "Fowler syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111666",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111666",
            "name": "Fowler vasculopathy",
            "description": ""
        },
        {
            "id": "DOID:0111666",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111666",
            "name": "proliferative vasculopathy and hydranencephaly/hydrocephaly",
            "description": ""
        },
        {
            "id": "DOID:0111666",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111666",
            "name": "PVHH",
            "description": ""
        },
        {
            "id": "DOID:0111666",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111666",
            "name": "cerebral proliferative glomeruloid vasculopathy",
            "description": ""
        },
        {
            "id": "DOID:0111666",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111666",
            "name": "encephaloclastic proliferative vasculopathy",
            "description": ""
        },
        {
            "id": "DOID:0111666",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111666",
            "name": "hydranencephaly, Fowler type",
            "description": ""
        },
        {
            "id": "DOID:0111666",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111666",
            "name": "hydrocephaly/hydranencephaly due to cerebral vasculopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009168",
            "name": "Fowler syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009168",
            "name": "Encephaloclastic proliferative vasculopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009168",
            "name": "Fowler syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009168",
            "name": "cerebral proliferative glomeruloid vasculopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009168",
            "name": "hydrocephaly/hydranencephaly due to cerebral vasculopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009168",
            "name": "proliferative vasculopathy and hydranencephaly/hydrocephaly",
            "description": ""
        },
        {
            "id": "MONDO:0009168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009168",
            "name": "PVHH",
            "description": ""
        },
        {
            "id": "MONDO:0009168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009168",
            "name": "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome",
            "description": ""
        },
        {
            "id": "MIM:225790",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/225790",
            "name": "Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome",
            "description": "Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111666"
    ],
    "unlinked_id_list": []
}