{
    "disease_id": "DOID:0111446", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012721", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012721", 
            "name": "progressive myoclonic epilepsy type 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012721", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012721", 
            "name": "EPM 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012721", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012721", 
            "name": "ceroid lipofuscinosis, neuronal, 14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012721", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012721", 
            "name": "progressive myoclonic epilepsy 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012721", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012721", 
            "name": "KCTD7 progressive myoclonic epilepsy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012721", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012721", 
            "name": "epilepsy, progressive myoclonic, 3, with or without intracellular inclusions"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012721", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012721", 
            "name": "epilepsy progressive myoclonic type 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012721", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012721", 
            "name": "PME type 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012721", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012721", 
            "name": "EPM3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012721", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012721", 
            "name": "epilepsy, progressive myoclonic, 3, with or without intracellular inclusions; EPM3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012721", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012721", 
            "name": "progressive myoclonic epilepsy due to KCTD7 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012721", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012721", 
            "name": "progressive myoclonic epilepsy caused by mutation in KCTD7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012721", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012721", 
            "name": "progressive myoclonus epilepsy type 3"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111446", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111446", 
            "name": "CLN14 disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111446", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111446", 
            "name": "EPM3"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111446", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111446", 
            "name": "PME type 3"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111446", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111446", 
            "name": "Progressive myoclonus epilepsy type 3"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111446", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111446", 
            "name": "neuronal ceroid lipofuscinosis 14"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111446", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111446", 
            "name": "Progressive myoclonic epilepsy due to KCTD7 deficiency"
        }, 
        {
            "url": "https://www.omim.org/entry/611726", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:611726", 
            "name": "Epilepsy, progressive myoclonic 3, with or without intracellular inclusions"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111446", 
        "description": "A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in KCTD7 on chromosome 7q11.21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111446", 
        "name": "progressive myoclonus epilepsy 3"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/611726", 
            "id": "611726", 
            "database": "MIM"
        }
    ]
}
