{
    "disease_id": "DOID:0110724",
    "recommended_name": {
        "id": "DOID:0110724",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110724",
        "name": "neuronal ceroid lipofuscinosis 8 northern epilepsy variant",
        "description": "A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23."
    },
    "synonyms": [
        {
            "id": "DOID:0110724",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110724",
            "name": "EPMR",
            "description": ""
        },
        {
            "id": "DOID:0110724",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110724",
            "name": "northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant",
            "description": ""
        },
        {
            "id": "DOID:0110724",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110724",
            "name": "progressive epilepsy-intellectual disability syndrome, Finnish type",
            "description": ""
        },
        {
            "id": "DOID:0110724",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110724",
            "name": "progressive epilepsy with mental retardation, northern epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "neuronal ceroid lipofuscinosis 8 northern epilepsy variant",
            "description": "Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision."
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "CLN8 disease, Northern epilepsy variant",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "EPMR",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "NCL, Northern epilepsy variant",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "Northern epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "early onset familial encephalopathy with neuroserpin inclusion bodies",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "neuronal ceroid lipofuscinosis, Northern epilepsy variant",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "progressive epilepsy with intellectual disability, northern epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "progressive epilepsy-intellectual disability syndrome, Finnish type",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "progressive myoclonic epilepsy with neuroserpin inclusion bodies",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "CLN8",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "CLN8 disease, EPMR (subtype)",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "CLN8 disease, late infantile (subtype)",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "ceroid lipofuscinosis neuronal 8",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "epilepsy mental deterioration Finnish type",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "epilepsy, progressive, with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "neuronal ceroid lipofuscinosis 8",
            "description": ""
        },
        {
            "id": "MONDO:0012391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "name": "progressive epilepsy - intellectual disability, Finnish type",
            "description": ""
        },
        {
            "id": "MIM:610003",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610003",
            "name": "Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant",
            "description": "Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110724"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110724",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110724",
            "categories": []
        },
        {
            "id": "MONDO:0012391",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012391",
            "categories": []
        },
        {
            "id": "MIM:610003",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610003",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QYC0-1",
            "uniprot_ac": "F1QYC0",
            "uniprot_id": "F1QYC0_DANRE",
            "refseq_ac": "NP_001108060",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein CLN8",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis, neuronal 8",
                    "type": "synonym"
                },
                {
                    "name": "protein CLN8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cln8",
                    "type": "recommended"
                },
                {
                    "name": "cln8",
                    "type": "synonym"
                },
                {
                    "name": "zgc:172202",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QYC0-1",
            "evidence": [
                {
                    "id": "0110724",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110724"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QUK3-1",
            "uniprot_ac": "Q9QUK3",
            "uniprot_id": "CLN8_MOUSE",
            "refseq_ac": "NP_036130",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein CLN8",
                    "type": "recommended"
                },
                {
                    "name": "ceroid-lipofuscinosis, neuronal 8",
                    "type": "synonym"
                },
                {
                    "name": "motor neuron degeneration",
                    "type": "synonym"
                },
                {
                    "name": "protein CLN8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cln8",
                    "type": "recommended"
                },
                {
                    "name": "Cln8",
                    "type": "synonym"
                },
                {
                    "name": "Tlcd6",
                    "type": "synonym"
                },
                {
                    "name": "mnd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QUK3-1",
            "evidence": [
                {
                    "id": "0110724",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110724"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UBY8-1",
            "uniprot_ac": "Q9UBY8",
            "uniprot_id": "CLN8_HUMAN",
            "refseq_ac": "NP_061764",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein CLN8",
                    "type": "recommended"
                },
                {
                    "name": "ceroid-lipofuscinosis, neuronal 8",
                    "type": "synonym"
                },
                {
                    "name": "protein CLN8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLN8",
                    "type": "recommended"
                },
                {
                    "name": "C8orf61",
                    "type": "synonym"
                },
                {
                    "name": "CLN8",
                    "type": "synonym"
                },
                {
                    "name": "EPMR",
                    "type": "synonym"
                },
                {
                    "name": "TLCD6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UBY8-1",
            "evidence": [
                {
                    "id": "610003",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610003"
                },
                {
                    "id": "0110724",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110724"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AYM9-1",
            "uniprot_ac": "Q6AYM9",
            "uniprot_id": "CLN8_RAT",
            "refseq_ac": "NP_001007687",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein CLN8",
                    "type": "recommended"
                },
                {
                    "name": "ceroid-lipofuscinosis, neuronal 8",
                    "type": "synonym"
                },
                {
                    "name": "protein CLN8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cln8",
                    "type": "recommended"
                },
                {
                    "name": "Cln8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AYM9-1",
            "evidence": [
                {
                    "id": "0110724",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110724"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62924-1",
            "uniprot_ac": "Q62924",
            "uniprot_id": "AKA11_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "A-kinase anchor protein 11",
                    "type": "recommended"
                },
                {
                    "name": "A-kinase anchor protein 220 kDa",
                    "type": "synonym"
                },
                {
                    "name": "AKAP 220",
                    "type": "synonym"
                },
                {
                    "name": "AKAP-11",
                    "type": "synonym"
                },
                {
                    "name": "PRKA11",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase A-anchoring protein 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Akap11",
                    "type": "recommended"
                },
                {
                    "name": "Akap220",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62924-1",
            "evidence": [
                {
                    "id": "0110724",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110724"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110724"
}