{
    "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",
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        },
        {
            "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",
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            "description": ""
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        {
            "id": "MONDO:0009744",
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            "name": "neuronal ceroid lipofuscinosis, infantile",
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        },
        {
            "id": "MONDO:0009744",
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            "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": [],
    "crossref": [
        {
            "id": "DOID:0110721",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110721",
            "categories": []
        },
        {
            "id": "MONDO:0009744",
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            "id": "MIM:256730",
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            "url": "https://www.omim.org/entry/256730",
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    ],
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        {
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            "uniprot_ac": "F1R8J6",
            "uniprot_id": "F1R8J6_DANRE",
            "refseq_ac": "XP_005159823",
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            "species": [
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Palmitoyl-protein thioesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.2.22",
                    "type": "synonym"
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                    "name": "3.1.2.2",
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                {
                    "name": "Palmitoyl-protein hydrolase 1",
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                {
                    "name": "palmitoyl-protein thioesterase 1 isoform X1",
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                }
            ],
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                {
                    "name": "ppt1",
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                },
                {
                    "name": "ppt1",
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                },
                {
                    "name": "wu:fj17f04",
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                },
                {
                    "name": "zgc:63969",
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            ],
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                }
            ],
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                    "name": "Palmitoyl-protein hydrolase 1",
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                    "name": "palmitoyl-protein hydrolase 1",
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                    "name": "palmitoyl-protein thioesterase 1 precursor",
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                {
                    "name": "Cln1",
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                {
                    "name": "D4Ertd184e",
                    "type": "synonym"
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                {
                    "name": "INCL",
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                {
                    "name": "PPT",
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                    "name": "Ppt1",
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            ],
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            "uniprot_ac": "Q61124",
            "uniprot_id": "CLN3_MOUSE",
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                {
                    "name": "Mus musculus",
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Battenin",
                    "type": "recommended"
                },
                {
                    "name": "Protein CLN3",
                    "type": "synonym"
                },
                {
                    "name": "battenin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "battenin",
                    "type": "synonym"
                },
                {
                    "name": "ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cln3",
                    "type": "recommended"
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                    "name": "Cln3",
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                    "id": "0110721",
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        {
            "uniprot_canonical_ac": "P50897-1",
            "uniprot_ac": "P50897",
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            "refseq_ac": "NP_000301",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Palmitoyl-protein thioesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.2.22",
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                {
                    "name": "3.1.2.2",
                    "type": "synonym"
                },
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                    "name": "PPT-1",
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                },
                {
                    "name": "Palmitoyl-protein hydrolase 1",
                    "type": "synonym"
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                    "name": "ceroid-palmitoyl-palmitoyl-protein thioesterase 1",
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                },
                {
                    "name": "palmitoyl-protein hydrolase 1",
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                },
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                    "name": "palmitoyl-protein thioesterase 1 isoform 1 precursor",
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                    "name": "PPT1",
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                },
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                {
                    "name": "PPT1",
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                    "name": "PPT",
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            ],
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                    "id": "0110721",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein BTN1",
                    "type": "recommended"
                },
                {
                    "name": "amino acid transporter YHC3",
                    "type": "synonym"
                }
            ],
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                    "name": "YHC3",
                    "type": "recommended"
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                },
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                    "name": "J1139",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110721"
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        {
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            "uniprot_ac": "P45479",
            "uniprot_id": "PPT1_RAT",
            "refseq_ac": "NP_071947",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Palmitoyl-protein thioesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.2.22",
                    "type": "synonym"
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                    "name": "3.1.2.2",
                    "type": "synonym"
                },
                {
                    "name": "PPT-1",
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                {
                    "name": "Palmitoyl-protein hydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "palmitoyl-protein hydrolase 1",
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                    "name": "palmitoyl-protein thioesterase 1 precursor",
                    "type": "synonym"
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                {
                    "name": "Ppt1",
                    "type": "recommended"
                },
                {
                    "name": "Cln1",
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                },
                {
                    "name": "Ppt1",
                    "type": "synonym"
                },
                {
                    "name": "Ppt",
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                }
            ],
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                    "id": "0110721",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110721"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LEL9-1",
            "uniprot_ac": "A0ABK0LEL9",
            "uniprot_id": "A0ABK0LEL9_RAT",
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            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Battenin",
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                {
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            ],
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41738-1",
            "uniprot_ac": "P41738",
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                {
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aryl hydrocarbon receptor",
                    "type": "recommended"
                },
                {
                    "name": "Ah receptor",
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                {
                    "name": "AhR",
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                }
            ],
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                {
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3C7-1",
            "uniprot_ac": "Q9W3C7",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Palmitoyl-protein thioesterase 1",
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                },
                {
                    "name": "3.1.2.22",
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                },
                {
                    "name": "CG12108-PB",
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                },
                {
                    "name": "PPT-1",
                    "type": "synonym"
                },
                {
                    "name": "Palmitoyl-protein hydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "Palmitoyl-protein thioesterase 1, isoform B",
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                },
                {
                    "name": "Ppt1-PB",
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                },
                {
                    "name": "palmitoyl protein thioesterase 1",
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                },
                {
                    "name": "palmitoyl-protein thioesterase 1",
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                }
            ],
            "gene_names": [
                {
                    "name": "Ppt1",
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                {
                    "name": "CG12108",
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                },
                {
                    "name": "DmPpt1",
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                },
                {
                    "name": "Dmel\\CG12108",
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                },
                {
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                },
                {
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                },
                {
                    "name": "ppt1",
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            ],
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                    "id": "0110721",
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                }
            ]
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        {
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            "uniprot_ac": "Q9VVL0",
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                {
                    "name": "Drosophila melanogaster",
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                }
            ],
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                    "name": "Battenin",
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                    "name": "CG5582-PB",
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                },
                {
                    "name": "Cln3, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Cln3-PB",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis, neuronal 3",
                    "type": "synonym"
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                {
                    "name": "cln3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
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                },
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                },
                {
                    "name": "Cln3",
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                },
                {
                    "name": "Dmel\\CG5582",
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                {
                    "name": "Dmel_CG5582",
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                {
                    "name": "cln3",
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            ],
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                    "id": "0110721",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13286-1",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Battenin",
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                    "name": "Batten disease protein",
                    "type": "synonym"
                },
                {
                    "name": "CLN3, battenin",
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                },
                {
                    "name": "Protein CLN3",
                    "type": "synonym"
                },
                {
                    "name": "batten disease protein",
                    "type": "synonym"
                },
                {
                    "name": "battenin isoform a",
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                },
                {
                    "name": "battenin",
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                },
                {
                    "name": "ceroid-lipofuscinosis, neuronal 3",
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                }
            ],
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                {
                    "name": "CLN3",
                    "type": "recommended"
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                {
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                },
                {
                    "name": "BTS",
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                },
                {
                    "name": "CLN3",
                    "type": "synonym"
                },
                {
                    "name": "JNCL",
                    "type": "synonym"
                },
                {
                    "name": "RP101",
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                },
                {
                    "name": "SLC29B1",
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                }
            ],
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                {
                    "id": "0110721",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110721"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110721"
}