{
    "disease_id": "DOID:0110730",
    "recommended_name": {
        "id": "DOID:0110730",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110730",
        "name": "neuronal ceroid lipofuscinosis 6B",
        "description": "A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23."
    },
    "synonyms": [
        {
            "id": "DOID:0110730",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110730",
            "name": "autosomal recessive neuronal ceroid lipofuscinosis 4A",
            "description": ""
        },
        {
            "id": "DOID:0110730",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110730",
            "name": "CLN4A",
            "description": ""
        },
        {
            "id": "DOID:0110730",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110730",
            "name": "neuronal ceroid lipofuscinosis 4A",
            "description": ""
        },
        {
            "id": "MONDO:0008768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008768",
            "name": "ceroid lipofuscinosis, neuronal, 6B (Kufs type)",
            "description": ""
        },
        {
            "id": "MONDO:0008768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008768",
            "name": "CLN4A",
            "description": ""
        },
        {
            "id": "MONDO:0008768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008768",
            "name": "CLN6 neuronal ceroid lipofuscinosis",
            "description": ""
        },
        {
            "id": "MONDO:0008768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008768",
            "name": "neuronal ceroid lipofuscinosis caused by mutation in CLN6",
            "description": ""
        },
        {
            "id": "MONDO:0008768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008768",
            "name": "neuronal ceroid lipofuscinosis type 4A",
            "description": ""
        },
        {
            "id": "MONDO:0008768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008768",
            "name": "Kuf's disease type A",
            "description": ""
        },
        {
            "id": "MONDO:0008768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008768",
            "name": "Kuf's disease, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0008768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008768",
            "name": "adult neuronal ceroid lipofuscinosis 4A",
            "description": ""
        },
        {
            "id": "MONDO:0008768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008768",
            "name": "ceroid lipofuscinosis, neuronal, 4A, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:204300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/204300",
            "name": "Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive",
            "description": "Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110730"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110730",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110730",
            "categories": []
        },
        {
            "id": "MONDO:0008768",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008768",
            "categories": []
        },
        {
            "id": "MIM:204300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/204300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5J5-1",
            "uniprot_ac": "A0ACD6B5J5",
            "uniprot_id": "A0ACD6B5J5_DANRE",
            "refseq_ac": "XP_073798724",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceroid-lipofuscinosis neuronal protein 6 homolog isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis neuronal protein 6 homolog isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cln6b",
                    "type": "recommended"
                },
                {
                    "name": "cln6b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5J5-1",
            "evidence": [
                {
                    "id": "0110730",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110730"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BGW5-1",
            "uniprot_ac": "A0A8M2BGW5",
            "uniprot_id": "A0A8M2BGW5_DANRE",
            "refseq_ac": "XP_005169032",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceroid-lipofuscinosis neuronal protein 6a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis neuronal protein 6a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cln6a",
                    "type": "recommended"
                },
                {
                    "name": "cln6a",
                    "type": "synonym"
                },
                {
                    "name": "cln6",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103565",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BGW5-1",
            "evidence": [
                {
                    "id": "0110730",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110730"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NWW5-1",
            "uniprot_ac": "Q9NWW5",
            "uniprot_id": "CLN6_HUMAN",
            "refseq_ac": "NP_060352",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceroid-lipofuscinosis neuronal protein 6",
                    "type": "recommended"
                },
                {
                    "name": "Protein CLN6",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis neuronal 6 late infantile",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis neuronal protein 6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis neuronal protein 6",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis, neuronal 6, late infantile",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLN6",
                    "type": "recommended"
                },
                {
                    "name": "CLN4A",
                    "type": "synonym"
                },
                {
                    "name": "CLN6A",
                    "type": "synonym"
                },
                {
                    "name": "CLN6",
                    "type": "synonym"
                },
                {
                    "name": "HsT18960",
                    "type": "synonym"
                },
                {
                    "name": "nclf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NWW5-1",
            "evidence": [
                {
                    "id": "204300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/204300"
                },
                {
                    "id": "0110730",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110730"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZZ46-1",
            "uniprot_ac": "D3ZZ46",
            "uniprot_id": "D3ZZ46_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": "CLN6, transmembrane ER protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cln6",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZZ46-1",
            "evidence": [
                {
                    "id": "0110730",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110730"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29410-1",
            "uniprot_ac": "P29410",
            "uniprot_id": "KAD2_RAT",
            "refseq_ac": "NP_001029139",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate kinase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.3",
                    "type": "synonym"
                },
                {
                    "name": "AK 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP-AMP transphosphorylase 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP:AMP phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate monophosphate kinase",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase 2, mitochondrial isoform b",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "adenylate monophosphate kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ak2",
                    "type": "recommended"
                },
                {
                    "name": "AK2",
                    "type": "synonym"
                },
                {
                    "name": "Ak2",
                    "type": "synonym"
                }
            ],
            "record_id": "P29410-1",
            "evidence": [
                {
                    "id": "0110730",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110730"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110730"
}