{
    "disease_id": "DOID:0110724",
    "recommended_name": {
        "id": "DOID:0110724",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110724",
        "name": "neuronal ceroid lipofuscinosis 8 northern epilepsy variant",
        "description": "A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23."
    },
    "synonyms": [
        {
            "id": "DOID:0110724",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110724",
            "name": "EPMR",
            "description": ""
        },
        {
            "id": "DOID:0110724",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110724",
            "name": "northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant",
            "description": ""
        },
        {
            "id": "DOID:0110724",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110724",
            "name": "progressive epilepsy-intellectual disability syndrome, Finnish type",
            "description": ""
        },
        {
            "id": "DOID:0110724",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110724",
            "name": "progressive epilepsy with mental retardation, northern epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "neuronal ceroid lipofuscinosis 8 northern epilepsy variant",
            "description": "Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision."
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "CLN8 disease, Northern epilepsy variant",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "EPMR",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "NCL, Northern epilepsy variant",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "Northern epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "early onset familial encephalopathy with neuroserpin inclusion bodies",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "neuronal ceroid lipofuscinosis, Northern epilepsy variant",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "progressive epilepsy with intellectual disability, northern epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "progressive epilepsy with mental retardation, northern epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "progressive epilepsy-intellectual disability syndrome, Finnish type",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "progressive myoclonic epilepsy with neuroserpin inclusion bodies",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "CLN8",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "CLN8 disease, EPMR (subtype)",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "CLN8 disease, late infantile (subtype)",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "ceroid lipofuscinosis neuronal 8",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "epilepsy mental deterioration Finnish type",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "epilepsy, progressive, with intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "epilepsy, progressive, with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "neuronal ceroid lipofuscinosis 8",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "progressive epilepsy - intellectual disability, Finnish type",
            "description": ""
        },
        {
            "id": "MIM:610003",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610003",
            "name": "Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant",
            "description": "Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110724"
    ],
    "unlinked_id_list": []
}