{
    "disease_id": "DOID:0060848",
    "recommended_name": {
        "id": "DOID:0060848",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060848",
        "name": "early infantile epileptic encephalopathy 9",
        "description": "An early infantile epileptic encephalopathy that has_material_basis_in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22."
    },
    "synonyms": [
        {
            "id": "DOID:0060848",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060848",
            "name": "early infantile female-limited epilecptic encephalopathy",
            "description": ""
        },
        {
            "id": "DOID:0060848",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060848",
            "name": "EFMR",
            "description": ""
        },
        {
            "id": "DOID:0060848",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060848",
            "name": "EIEE9",
            "description": ""
        },
        {
            "id": "DOID:0060848",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060848",
            "name": "Juberg Hellman syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060848",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060848",
            "name": "female restricted epilepsy with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "early infantile epileptic encephalopathy 9",
            "description": "Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance."
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "EIEE9",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "PCDH19 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "female restricted epilepsy with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "early infantile epileptic encephalopathy caused by mutation in PCDH19",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "EFMR",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "PCDH19-related FLE",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "female restricted epilepsy with intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "early infantile female-limited epilecptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "Juberg-Hellman syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "Juberg Hellman syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "epileptic encephalopathy, early infantile, 9; EIEE9",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "epileptic encephalopathy, early infantile, type 9",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "early infantile epileptic encephalopathy type 9",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "epilepsy, female restricted, with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "PCDH19-related infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "epilepsy, female-restricted, with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "female restricted epilepsy with intellectual deficit",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "epileptic encephalopathy, early infantile, 9",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "PCDH19-related female-limited epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "familial epilepsy and mental retardation limited to females",
            "description": ""
        },
        {
            "id": "MONDO:0010246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010246",
            "name": "epilepsy and mental retardation limited to females",
            "description": ""
        },
        {
            "id": "MIM:300088",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300088",
            "name": "Developmental and epileptic encephalopathy 9",
            "description": "Developmental and epileptic encephalopathy 9"
        }
    ]
}