{
    "disease_id": "DOID:0111446",
    "recommended_name": {
        "id": "DOID:0111446",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111446",
        "name": "progressive myoclonus epilepsy 3",
        "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 the KCTD7 gene on chromosome 7q11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111446",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111446",
            "name": "CLN14 disease",
            "description": ""
        },
        {
            "id": "DOID:0111446",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111446",
            "name": "EPM3",
            "description": ""
        },
        {
            "id": "DOID:0111446",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111446",
            "name": "PME type 3",
            "description": ""
        },
        {
            "id": "DOID:0111446",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111446",
            "name": "Progressive myoclonus epilepsy type 3",
            "description": ""
        },
        {
            "id": "DOID:0111446",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111446",
            "name": "neuronal ceroid lipofuscinosis 14",
            "description": ""
        },
        {
            "id": "DOID:0111446",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111446",
            "name": "Progressive myoclonic epilepsy due to KCTD7 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "progressive myoclonic epilepsy type 3",
            "description": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene."
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "CLN14 disease",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "EPM3",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "KCTD7 progressive myoclonic epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "PME type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "epilepsy, progressive myoclonic 3, with or without intracellular inclusions",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "neuronal ceroid lipofuscinosis type 14",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "progressive myoclonic epilepsy caused by mutation in KCTD7",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "progressive myoclonic epilepsy due to KCTD7 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "progressive myoclonic epilepsy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "progressive myoclonus epilepsy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "EPM 3",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "epilepsy progressive myoclonic type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "epilepsy, progressive myoclonic, 3, with or without intracellular inclusions",
            "description": ""
        },
        {
            "id": "MONDO:0012721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012721",
            "name": "progressive myoclonic epilepsy 3",
            "description": ""
        },
        {
            "id": "MIM:611726",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611726",
            "name": "Epilepsy, progressive myoclonic 3, with or without intracellular inclusions",
            "description": "Epilepsy, progressive myoclonic 3, with or without intracellular inclusions"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111446"
    ],
    "unlinked_id_list": []
}