{
    "disease_id": "DOID:0110724", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012391", 
            "name": "epilepsy, progressive, with mental retardation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012391", 
            "name": "NCL, Northern epilepsy variant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012391", 
            "name": "progressive epilepsy - intellectual disability, Finnish type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012391", 
            "name": "ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012391", 
            "name": "EPMR"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012391", 
            "name": "CLN8 disease, late infantile (subtype)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012391", 
            "name": "epilepsy mental deterioration Finnish type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012391", 
            "name": "CLN8 disease, EPMR (subtype)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012391", 
            "name": "neuronal ceroid lipofuscinosis 8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012391", 
            "name": "CLN8 disease, Northern epilepsy variant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012391", 
            "name": "neuronal ceroid lipofuscinosis, Northern epilepsy variant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012391", 
            "name": "Northern epilepsy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012391", 
            "name": "progressive epilepsy-intellectual disability syndrome, Finnish type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012391", 
            "name": "CLN8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012391", 
            "name": "northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012391", 
            "name": "progressive epilepsy with mental retardation, northern epilepsy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012391", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012391", 
            "name": "ceroid lipofuscinosis neuronal 8"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110724", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110724", 
            "name": "EPMR"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110724", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110724", 
            "name": "northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110724", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110724", 
            "name": "progressive epilepsy-intellectual disability syndrome, Finnish type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110724", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110724", 
            "name": "progressive epilepsy with mental retardation, northern epilepsy"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110724", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110724", 
        "name": "neuronal ceroid lipofuscinosis 8 northern epilepsy variant"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110724#disease-associations", 
            "id": "0110724", 
            "database": "Alliance of Genome Resources"
        }
    ]
}