{
    "disease_id": "DOID:0110721",
    "recommended_name": {
        "id": "DOID:0110721",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110721",
        "name": "neuronal ceroid lipofuscinosis 1",
        "description": "A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "DOID:0110721",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110721",
            "name": "CLN1",
            "description": ""
        },
        {
            "id": "DOID:0110721",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110721",
            "name": "neuronal ceroid lipofuscinosis 1 variable age of onset",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "neuronal ceroid lipofuscinosis 1",
            "description": "A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments."
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "CLN1",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "CLN1 disease",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "CLN1 variable age at onset",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "PPT1 neuronal ceroid lipofuscinosis",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "ceroid lipofuscinosis neuronal 1",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "ceroid lipofuscinosis, neuronal, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "ceroid lipofuscinosis, neuronal, 1, variable Age at onset",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "ceroid lipofuscinosis, neuronal, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "ceroid storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "neuronal ceroid lipofuscinosis 1",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "neuronal ceroid lipofuscinosis caused by mutation in PPT1",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "neuronal ceroid lipofuscinosis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "Santavuori disease",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "Santavuori-Haltia disease",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "adult CLN (type of CLN1)",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "classic late infantile CLN (type of CLN1)",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "infantile CLN (type of CLN1)",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "infantile neuronal ceroid lipofuscinosis",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "juvenile CLN (type of CLN1)",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "neuronal ceroid lipofuscinosis, infantile",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "congenital neuronal ceroid lipofuscinosis",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "neuronal ceroid lipofuscinosis 1",
            "description": "A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments."
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "CLN1",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "CLN1 disease",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "CLN1 variable age at onset",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "PPT1 neuronal ceroid lipofuscinosis",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "ceroid lipofuscinosis neuronal 1",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "ceroid lipofuscinosis, neuronal, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "ceroid lipofuscinosis, neuronal, 1, variable Age at onset",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "ceroid lipofuscinosis, neuronal, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "ceroid storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "neuronal ceroid lipofuscinosis 1",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "neuronal ceroid lipofuscinosis caused by mutation in PPT1",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "neuronal ceroid lipofuscinosis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "Santavuori disease",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "Santavuori-Haltia disease",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "adult CLN (type of CLN1)",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "classic late infantile CLN (type of CLN1)",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "infantile CLN (type of CLN1)",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "infantile neuronal ceroid lipofuscinosis",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "juvenile CLN (type of CLN1)",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "neuronal ceroid lipofuscinosis, infantile",
            "description": ""
        },
        {
            "id": "MONDO:0009744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009744",
            "name": "congenital neuronal ceroid lipofuscinosis",
            "description": ""
        },
        {
            "id": "MIM:256730",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256730",
            "name": "Ceroid lipofuscinosis, neuronal, 1",
            "description": "Ceroid lipofuscinosis, neuronal, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110721"
    ],
    "unlinked_id_list": []
}