{
    "disease_id": "DOID:0070657",
    "recommended_name": {
        "id": "DOID:0070657",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070657",
        "name": "congenital variant of Rett syndrome",
        "description": "A pervasive developmental disorder characterized by microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation that has_material_basis_in heterozygous mutation in the FOXG1 gene on chromosome 14q13, encoding forkhead box protein G1."
    },
    "synonyms": [
        {
            "id": "DOID:0070657",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070657",
            "name": "FOXG1 syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070657",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070657",
            "name": "Rett syndrome, congenital variant",
            "description": ""
        },
        {
            "id": "MONDO:0100040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100040",
            "name": "FOXG1 disorder",
            "description": "A monogenic disease that has material basis in mutation in the FOXG1 gene."
        },
        {
            "id": "MONDO:0100040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100040",
            "name": "FOXG1 disorder",
            "description": ""
        },
        {
            "id": "MONDO:0100040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100040",
            "name": "FOXG1 inherited genetic disease",
            "description": ""
        },
        {
            "id": "MONDO:0100040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100040",
            "name": "FOXG1 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0100040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100040",
            "name": "FOXG1 syndrome due to intragenic alteration",
            "description": ""
        },
        {
            "id": "MONDO:0100040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100040",
            "name": "FOXG1-related epileptic-dyskinetic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0100040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100040",
            "name": "Rett syndrome, congenital variant",
            "description": ""
        },
        {
            "id": "MONDO:0100040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100040",
            "name": "inherited genetic disease caused by mutation in FOXG1",
            "description": ""
        },
        {
            "id": "MIM:613454",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613454",
            "name": "Rett syndrome congenital variant",
            "description": "Rett syndrome congenital variant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070657"
    ],
    "unlinked_id_list": []
}