{
    "disease_id": "DOID:0070511",
    "recommended_name": {
        "id": "DOID:0070511",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070511",
        "name": "polyhydramnios, megalencephaly, and symptomatic epilepsy",
        "description": "A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070511",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070511",
            "name": "PMSE",
            "description": ""
        },
        {
            "id": "DOID:0070511",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070511",
            "name": "PMSE syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070511",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070511",
            "name": "Pretzel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012611",
            "name": "polyhydramnios, megalencephaly, and symptomatic epilepsy",
            "description": "A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has material basis in homozygous mutation in the STRADA gene on chromosome 17q23.3."
        },
        {
            "id": "MONDO:0012611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012611",
            "name": "PMSE syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012611",
            "name": "polyhydramnios, megalencephaly, and symptomatic epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0012611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012611",
            "name": "PMSE",
            "description": ""
        },
        {
            "id": "MONDO:0012611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012611",
            "name": "polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012611",
            "name": "pretzel syndrome",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070511"
    ],
    "unlinked_id_list": []
}