{
    "disease_id": "DOID:0110727",
    "recommended_name": {
        "id": "DOID:0110727",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110727",
        "name": "neuronal ceroid lipofuscinosis 13",
        "description": "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110727",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110727",
            "name": "CLN13",
            "description": ""
        },
        {
            "id": "DOID:0110727",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110727",
            "name": "neuronal ceroid lipofuscinosis 13 Kufs type",
            "description": ""
        },
        {
            "id": "MONDO:0014147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014147",
            "name": "neuronal ceroid lipofuscinosis 13",
            "description": "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene."
        },
        {
            "id": "MONDO:0014147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014147",
            "name": "CLN13",
            "description": ""
        },
        {
            "id": "MONDO:0014147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014147",
            "name": "CTSF neuronal ceroid lipofuscinosis",
            "description": ""
        },
        {
            "id": "MONDO:0014147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014147",
            "name": "ceroid lipofuscinosis, neuronal, 13 (Kufs type)",
            "description": ""
        },
        {
            "id": "MONDO:0014147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014147",
            "name": "ceroid lipofuscinosis, neuronal, type 13",
            "description": ""
        },
        {
            "id": "MONDO:0014147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014147",
            "name": "neuronal ceroid lipofuscinosis caused by mutation in CTSF",
            "description": ""
        },
        {
            "id": "MONDO:0014147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014147",
            "name": "neuronal ceroid lipofuscinosis type 13",
            "description": ""
        },
        {
            "id": "MONDO:0014147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014147",
            "name": "ceroid lipofuscinosis, neuronal, 13",
            "description": ""
        },
        {
            "id": "MIM:615362",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615362",
            "name": "Ceroid lipofuscinosis, neuronal, 13 (Kufs type)",
            "description": "Ceroid lipofuscinosis, neuronal, 13 (Kufs type)"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110727"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110727",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110727",
            "categories": []
        },
        {
            "id": "MONDO:0014147",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014147",
            "categories": []
        },
        {
            "id": "MIM:615362",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615362",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1RE14-1",
            "uniprot_ac": "F1RE14",
            "uniprot_id": "F1RE14_DANRE",
            "refseq_ac": "NP_001071036",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cathepsin F",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.41",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin F precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ctsf",
                    "type": "recommended"
                },
                {
                    "name": "cb420",
                    "type": "synonym"
                },
                {
                    "name": "ctsf",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb420",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153093",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RE14-1",
            "evidence": [
                {
                    "id": "0110727",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110727"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R013-1",
            "uniprot_ac": "Q9R013",
            "uniprot_id": "CATF_MOUSE",
            "refseq_ac": "NP_063914",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cathepsin F",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.41",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin F precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctsf",
                    "type": "recommended"
                },
                {
                    "name": "Ctsf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R013-1",
            "evidence": [
                {
                    "id": "0110727",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110727"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UBX1-1",
            "uniprot_ac": "Q9UBX1",
            "uniprot_id": "CATF_HUMAN",
            "refseq_ac": "NP_003784",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cathepsin F",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.41",
                    "type": "synonym"
                },
                {
                    "name": "CATSF",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin F precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTSF",
                    "type": "recommended"
                },
                {
                    "name": "CATSF",
                    "type": "synonym"
                },
                {
                    "name": "CLN13",
                    "type": "synonym"
                },
                {
                    "name": "CTSF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UBX1-1",
            "evidence": [
                {
                    "id": "615362",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615362"
                },
                {
                    "id": "0110727",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110727"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24054-1",
            "uniprot_ac": "P24054",
            "uniprot_id": "SPRL1_RAT",
            "refseq_ac": "NP_037078",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SPARC-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Extracellular matrix protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Matrix glycoprotein Sc1",
                    "type": "synonym"
                },
                {
                    "name": "SPARC-like 1 (hevin)",
                    "type": "synonym"
                },
                {
                    "name": "SPARC-like 1 (mast9, hevin)",
                    "type": "synonym"
                },
                {
                    "name": "SPARC-like protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "SPARC-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "matrix glycoprotein Sc1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sparcl1",
                    "type": "recommended"
                },
                {
                    "name": "Ecm2",
                    "type": "synonym"
                },
                {
                    "name": "Sc1",
                    "type": "synonym"
                },
                {
                    "name": "Sparcl1",
                    "type": "synonym"
                }
            ],
            "record_id": "P24054-1",
            "evidence": [
                {
                    "id": "0110727",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110727"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VN93-1",
            "uniprot_ac": "Q9VN93",
            "uniprot_id": "CATF_DROME",
            "refseq_ac": "NP_649521",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cathepsin F",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.41",
                    "type": "synonym"
                },
                {
                    "name": "CG12163-PB",
                    "type": "synonym"
                },
                {
                    "name": "CtsF-PB",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine proteinase CtsF",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin F, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CtsF",
                    "type": "recommended"
                },
                {
                    "name": "CG12163",
                    "type": "synonym"
                },
                {
                    "name": "CTSF",
                    "type": "synonym"
                },
                {
                    "name": "Cts8",
                    "type": "synonym"
                },
                {
                    "name": "Cts9",
                    "type": "synonym"
                },
                {
                    "name": "CtsF",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12163",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.305",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VN93-1",
            "evidence": [
                {
                    "id": "0110727",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110727"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110727"
}