{
    "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": [],
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        "DOID:0110720"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110720",
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            "url": "https://disease-ontology.org/term/DOID:0110720",
            "categories": []
        },
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            "id": "MONDO:0008083",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008083",
            "categories": []
        },
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            "id": "MIM:162350",
            "database": "MIM",
            "url": "https://www.omim.org/entry/162350",
            "categories": []
        }
    ],
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            "uniprot_ac": "E7FF34",
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                    "glygen_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "DnaJ homolog subfamily C member 5",
                    "type": "recommended"
                },
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                    "type": "synonym"
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                },
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                {
                    "name": "dnajc5gb",
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                    "name": "DnaJ homolog subfamily C member 5B",
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                {
                    "name": "dnajc5b",
                    "type": "recommended"
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                {
                    "name": "dnajc5b",
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                    "name": "DnaJ homolog subfamily C member 5",
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                    "type": "synonym"
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                    "name": "Cysteine-string protein isoform alpha",
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                    "type": "synonym"
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                    "name": "cysteine string protein beta",
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                    "name": "1700008A05Rik",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
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                    "name": "DnaJ homolog subfamily C member 5",
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                    "id": "0110720",
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                    "name": "RGD1562486",
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                    "id": "0110720",
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                    "name": "DnaJ heat shock protein family (Hsp40) member C5 gamma",
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                    "name": "dnaJ homolog subfamily C member 5G isoform X1",
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                    "name": "Dnajc5g",
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                    "name": "Dnajc5g",
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                    "name": "Drosophila melanogaster",
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                    "name": "Csp-PF",
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                    "name": "Cysteine string protein",
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                    "name": "cystein string protein",
                    "type": "synonym"
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                    "name": "cysteine string protein 3",
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                {
                    "name": "cysteine string protein, isoform F",
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                    "name": "cysteine-string protein",
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                    "name": "CSP32",
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                    "name": "CSP",
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                {
                    "name": "Csp",
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                    "name": "Cys",
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                    "name": "D.M.CSP",
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                    "name": "DNAJC5",
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                    "name": "DSP/DNAJC5",
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                    "name": "Dcsp",
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                {
                    "name": "Dmel\\CG6395",
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                {
                    "name": "Dmel_CG6395",
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                    "name": "MAB ab49",
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                    "name": "ab49",
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                {
                    "name": "anon-WO02059370.50",
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                    "name": "csp29",
                    "type": "synonym"
                },
                {
                    "name": "csp32",
                    "type": "synonym"
                },
                {
                    "name": "csp",
                    "type": "synonym"
                },
                {
                    "name": "dCSP-2",
                    "type": "synonym"
                },
                {
                    "name": "dCSPalpha",
                    "type": "synonym"
                },
                {
                    "name": "l(3)03988",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03751-1",
            "evidence": [
                {
                    "id": "0110720",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110720"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N7S2-1",
            "uniprot_ac": "Q8N7S2",
            "uniprot_id": "DNJ5G_HUMAN",
            "refseq_ac": "NP_001290056",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DnaJ homolog subfamily C member 5G",
                    "type": "recommended"
                },
                {
                    "name": "CSP-gamma",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine string protein-gamma",
                    "type": "synonym"
                },
                {
                    "name": "DnaJ (Hsp40) homolog, subfamily C, member 5 gamma",
                    "type": "synonym"
                },
                {
                    "name": "cysteine string protein-gamma",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily C member 5G isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily C member 5G",
                    "type": "synonym"
                },
                {
                    "name": "gamma-CSP",
                    "type": "synonym"
                },
                {
                    "name": "gamma-cysteine string protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAJC5G",
                    "type": "recommended"
                },
                {
                    "name": "CSP-gamma",
                    "type": "synonym"
                },
                {
                    "name": "DNAJC5G",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N7S2-1",
            "evidence": [
                {
                    "id": "0110720",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110720"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UF47-1",
            "uniprot_ac": "Q9UF47",
            "uniprot_id": "DNJ5B_HUMAN",
            "refseq_ac": "NP_149096",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DnaJ homolog subfamily C member 5B",
                    "type": "recommended"
                },
                {
                    "name": "CSP-beta",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine-string protein isoform beta",
                    "type": "synonym"
                },
                {
                    "name": "DnaJ (Hsp40) homolog, subfamily C, member 5 beta",
                    "type": "synonym"
                },
                {
                    "name": "THE1B/DNAJC5B.1",
                    "type": "synonym"
                },
                {
                    "name": "beta cysteine string protein",
                    "type": "synonym"
                },
                {
                    "name": "beta-CSP",
                    "type": "synonym"
                },
                {
                    "name": "cysteine string protein beta",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily C member 5B",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily C member X",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 55",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAJC5B",
                    "type": "recommended"
                },
                {
                    "name": "CSP-beta",
                    "type": "synonym"
                },
                {
                    "name": "CSPBETA",
                    "type": "synonym"
                },
                {
                    "name": "DNAJC5B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UF47-1",
            "evidence": [
                {
                    "id": "0110720",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110720"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110720"
}