{
    "disease_id": "DOID:0110729",
    "recommended_name": {
        "id": "DOID:0110729",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110729",
        "name": "neuronal ceroid lipofuscinosis 6A",
        "description": "A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23."
    },
    "synonyms": [
        {
            "id": "DOID:0110729",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110729",
            "name": "neuronal ceroid lipofuscinosis 6 variable age of onset",
            "description": ""
        },
        {
            "id": "DOID:0110729",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110729",
            "name": "CLN6",
            "description": ""
        },
        {
            "id": "DOID:0110729",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110729",
            "name": "neuronal ceroid lipofuscinosis 6",
            "description": ""
        },
        {
            "id": "MONDO:0011144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011144",
            "name": "ceroid lipofuscinosis, neuronal, 6A",
            "description": "A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 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:0011144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011144",
            "name": "CLN6",
            "description": ""
        },
        {
            "id": "MONDO:0011144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011144",
            "name": "CLN6 late infantile neuronal ceroid lipofuscinosis",
            "description": ""
        },
        {
            "id": "MONDO:0011144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011144",
            "name": "CLN6A",
            "description": ""
        },
        {
            "id": "MONDO:0011144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011144",
            "name": "ceroid lipofuscinosis, neuronal, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0011144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011144",
            "name": "late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6",
            "description": ""
        },
        {
            "id": "MONDO:0011144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011144",
            "name": "neuronal ceroid lipofuscinosis type 6",
            "description": ""
        },
        {
            "id": "MONDO:0011144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011144",
            "name": "neuronal ceroid lipofuscinosis, late infantile, variant",
            "description": ""
        },
        {
            "id": "MONDO:0011144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011144",
            "name": "vLINCL",
            "description": ""
        },
        {
            "id": "MONDO:0011144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011144",
            "name": "CLN6 disease, adult Kufs type A (subtype)",
            "description": ""
        },
        {
            "id": "MONDO:0011144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011144",
            "name": "CLN6 disease, late infantile (subtype)",
            "description": ""
        },
        {
            "id": "MONDO:0011144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011144",
            "name": "ceroid lipofuscinosis, neuronal, 6",
            "description": ""
        },
        {
            "id": "MONDO:0011144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011144",
            "name": "neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant",
            "description": ""
        },
        {
            "id": "MIM:601780",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601780",
            "name": "Ceroid lipofuscinosis, neuronal, 6",
            "description": "Ceroid lipofuscinosis, neuronal, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110729"
    ],
    "unlinked_id_list": []
}