{
    "disease_id": "DOID:0110722",
    "recommended_name": {
        "id": "DOID:0110722",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110722",
        "name": "neuronal ceroid lipofuscinosis 7",
        "description": "A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28."
    },
    "synonyms": [
        {
            "id": "DOID:0110722",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110722",
            "name": "CLN7",
            "description": ""
        },
        {
            "id": "MONDO:0012588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012588",
            "name": "neuronal ceroid lipofuscinosis 7",
            "description": "Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms."
        },
        {
            "id": "MONDO:0012588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012588",
            "name": "CLN7",
            "description": ""
        },
        {
            "id": "MONDO:0012588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012588",
            "name": "MFSD8 neuronal ceroid lipofuscinosis",
            "description": ""
        },
        {
            "id": "MONDO:0012588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012588",
            "name": "ceroid lipofuscinosis, neuronal, type 7",
            "description": ""
        },
        {
            "id": "MONDO:0012588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012588",
            "name": "neuronal ceroid lipofuscinosis 7",
            "description": ""
        },
        {
            "id": "MONDO:0012588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012588",
            "name": "neuronal ceroid lipofuscinosis caused by mutation in MFSD8",
            "description": ""
        },
        {
            "id": "MONDO:0012588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012588",
            "name": "neuronal ceroid lipofuscinosis type 7",
            "description": ""
        },
        {
            "id": "MONDO:0012588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012588",
            "name": "CLN7 disease",
            "description": ""
        },
        {
            "id": "MONDO:0012588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012588",
            "name": "CLN7 disease, late infantile",
            "description": ""
        },
        {
            "id": "MONDO:0012588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012588",
            "name": "ceroid lipofuscinosis, neuronal, 7",
            "description": ""
        },
        {
            "id": "MIM:610951",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610951",
            "name": "Ceroid lipofuscinosis, neuronal, 7",
            "description": "Ceroid lipofuscinosis, neuronal, 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110722"
    ],
    "unlinked_id_list": []
}