{
    "disease_id": "DOID:0110723",
    "recommended_name": {
        "id": "DOID:0110723",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110723",
        "name": "neuronal ceroid lipofuscinosis 8",
        "description": "A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23."
    },
    "synonyms": [
        {
            "id": "DOID:0110723",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110723",
            "name": "CLN8",
            "description": ""
        },
        {
            "id": "MONDO:0010830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010830",
            "name": "neuronal ceroid lipofuscinosis 8",
            "description": "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene."
        },
        {
            "id": "MONDO:0010830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010830",
            "name": "CLN8",
            "description": ""
        },
        {
            "id": "MONDO:0010830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010830",
            "name": "CLN8 neuronal ceroid lipofuscinosis",
            "description": ""
        },
        {
            "id": "MONDO:0010830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010830",
            "name": "ceroid lipofuscinosis, neuronal, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0010830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010830",
            "name": "neuronal ceroid lipofuscinosis 8",
            "description": ""
        },
        {
            "id": "MONDO:0010830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010830",
            "name": "neuronal ceroid lipofuscinosis caused by mutation in CLN8",
            "description": ""
        },
        {
            "id": "MONDO:0010830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010830",
            "name": "neuronal ceroid lipofuscinosis type 8",
            "description": ""
        },
        {
            "id": "MONDO:0010830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010830",
            "name": "ceroid lipofuscinosis, neuronal, 8",
            "description": ""
        },
        {
            "id": "MIM:600143",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600143",
            "name": "Ceroid lipofuscinosis, neuronal, 8",
            "description": "Ceroid lipofuscinosis, neuronal, 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110723"
    ],
    "unlinked_id_list": []
}