{
    "disease_id": "DOID:0110720",
    "recommended_name": {
        "id": "DOID:0110720",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110720",
        "name": "neuronal ceroid lipofuscinosis 4",
        "description": "A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inheritance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110720",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110720",
            "name": "autosomal dominant neuronal ceroid lipofuscinosis 4B",
            "description": ""
        },
        {
            "id": "DOID:0110720",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110720",
            "name": "CLN4B disease",
            "description": ""
        },
        {
            "id": "DOID:0110720",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110720",
            "name": "neuronal ceroid lipofuscinosis 4 Parry type",
            "description": ""
        },
        {
            "id": "DOID:0110720",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110720",
            "name": "neuronal ceroid lipofuscinosis 4B",
            "description": ""
        },
        {
            "id": "MONDO:0008083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008083",
            "name": "ceroid lipofuscinosis, neuronal, 4 (Kufs type)",
            "description": "A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments."
        },
        {
            "id": "MONDO:0008083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008083",
            "name": "CLN4",
            "description": ""
        },
        {
            "id": "MONDO:0008083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008083",
            "name": "autosomal dominant Kufs disease",
            "description": ""
        },
        {
            "id": "MONDO:0008083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008083",
            "name": "ceroid lipofuscinosis, neuronal, 4 (Kufs type)",
            "description": ""
        },
        {
            "id": "MONDO:0008083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008083",
            "name": "ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008083",
            "name": "neuronal ceroid lipofuscinosis type 4B",
            "description": ""
        },
        {
            "id": "MONDO:0008083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008083",
            "name": "neuronal ceroid lipofuscinosis, parry type",
            "description": ""
        },
        {
            "id": "MONDO:0008083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008083",
            "name": "CLN4B",
            "description": ""
        },
        {
            "id": "MONDO:0008083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008083",
            "name": "Kuf's disease type B",
            "description": ""
        },
        {
            "id": "MONDO:0008083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008083",
            "name": "Kuf's disease, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008083",
            "name": "adult neuronal ceroid lipofuscinosis 4B",
            "description": ""
        },
        {
            "id": "MONDO:0008083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008083",
            "name": "ceroid lipofuscinosis, neuronal, 4B, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:162350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/162350",
            "name": "Ceroid lipofuscinosis, neuronal, 4B (Kufs type), autosomal dominant",
            "description": "Ceroid lipofuscinosis, neuronal, 4B (Kufs type), autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110720"
    ],
    "unlinked_id_list": []
}