{
    "disease_id": "DOID:0110725",
    "recommended_name": {
        "id": "DOID:0110725",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110725",
        "name": "neuronal ceroid lipofuscinosis 10",
        "description": "A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "DOID:0110725",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110725",
            "name": "neuronal ceroid lipofuscinosis due to cathepsin D deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110725",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110725",
            "name": "CLN10",
            "description": ""
        },
        {
            "id": "DOID:0110725",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110725",
            "name": "Cathepsin D deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110725",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110725",
            "name": "neuronal ceroid lipofuscinosis cathepsin D-deficient",
            "description": ""
        },
        {
            "id": "MONDO:0012414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012414",
            "name": "neuronal ceroid lipofuscinosis 10",
            "description": "A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms."
        },
        {
            "id": "MONDO:0012414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012414",
            "name": "CLN10",
            "description": ""
        },
        {
            "id": "MONDO:0012414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012414",
            "name": "CLN10-NCL",
            "description": ""
        },
        {
            "id": "MONDO:0012414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012414",
            "name": "CTSD neuronal ceroid lipofuscinosis",
            "description": ""
        },
        {
            "id": "MONDO:0012414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012414",
            "name": "ceroid lipofuscinosis, neuronal, type 10",
            "description": ""
        },
        {
            "id": "MONDO:0012414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012414",
            "name": "neuronal ceroid lipofuscinosis caused by mutation in CTSD",
            "description": ""
        },
        {
            "id": "MONDO:0012414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012414",
            "name": "neuronal ceroid lipofuscinosis due to cathepsin D deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012414",
            "name": "neuronal ceroid lipofuscinosis type 10",
            "description": ""
        },
        {
            "id": "MONDO:0012414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012414",
            "name": "CLN10 disease, adult (subtype)",
            "description": ""
        },
        {
            "id": "MONDO:0012414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012414",
            "name": "CLN10 disease, congenital (subtype)",
            "description": ""
        },
        {
            "id": "MONDO:0012414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012414",
            "name": "CLN10 disease, juvenile (subtype)",
            "description": ""
        },
        {
            "id": "MONDO:0012414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012414",
            "name": "CLN10 disease, late infantile (subtype)",
            "description": ""
        },
        {
            "id": "MONDO:0012414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012414",
            "name": "ceroid lipofuscinosis neuronal Cathepsin D-deficient",
            "description": ""
        },
        {
            "id": "MONDO:0012414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012414",
            "name": "ceroid lipofuscinosis, neuronal, 10",
            "description": ""
        },
        {
            "id": "MIM:610127",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610127",
            "name": "Ceroid lipofuscinosis, neuronal, 10",
            "description": "Ceroid lipofuscinosis, neuronal, 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110725"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110725",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110725",
            "categories": []
        },
        {
            "id": "MONDO:0012414",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012414",
            "categories": []
        },
        {
            "id": "MIM:610127",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610127",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P18242-1",
            "uniprot_ac": "P18242",
            "uniprot_id": "CATD_MOUSE",
            "refseq_ac": "NP_034113",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cathepsin D",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.5",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin D precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctsd",
                    "type": "recommended"
                },
                {
                    "name": "CD",
                    "type": "synonym"
                },
                {
                    "name": "CatD",
                    "type": "synonym"
                },
                {
                    "name": "Ctsd",
                    "type": "synonym"
                }
            ],
            "record_id": "P18242-1",
            "evidence": [
                {
                    "id": "0110725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110725"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07339-1",
            "uniprot_ac": "P07339",
            "uniprot_id": "CATD_HUMAN",
            "refseq_ac": "NP_001900",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cathepsin D",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.5",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin D preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis, neuronal 10",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein Li 130P",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal aspartyl peptidase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal aspartyl protease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTSD",
                    "type": "recommended"
                },
                {
                    "name": "CLN10",
                    "type": "synonym"
                },
                {
                    "name": "CPSD",
                    "type": "synonym"
                },
                {
                    "name": "CTSD",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-130P",
                    "type": "synonym"
                }
            ],
            "record_id": "P07339-1",
            "evidence": [
                {
                    "id": "610127",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610127"
                },
                {
                    "id": "0110725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110725"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07267-1",
            "uniprot_ac": "P07267",
            "uniprot_id": "CARP_YEAST",
            "refseq_ac": "NP_015171",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Saccharopepsin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.25",
                    "type": "synonym"
                },
                {
                    "name": "Aspartate protease",
                    "type": "synonym"
                },
                {
                    "name": "Carboxypeptidase Y-deficient protein 4",
                    "type": "synonym"
                },
                {
                    "name": "PrA",
                    "type": "synonym"
                },
                {
                    "name": "Proteinase A",
                    "type": "synonym"
                },
                {
                    "name": "Proteinase YSCA",
                    "type": "synonym"
                },
                {
                    "name": "proteinase A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEP4",
                    "type": "recommended"
                },
                {
                    "name": "P2585",
                    "type": "synonym"
                },
                {
                    "name": "PEP4",
                    "type": "synonym"
                },
                {
                    "name": "PHO9",
                    "type": "synonym"
                },
                {
                    "name": "PRA1",
                    "type": "synonym"
                },
                {
                    "name": "yscA",
                    "type": "synonym"
                }
            ],
            "record_id": "P07267-1",
            "evidence": [
                {
                    "id": "0110725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110725"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24268-1",
            "uniprot_ac": "P24268",
            "uniprot_id": "CATD_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cathepsin D",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctsd",
                    "type": "recommended"
                }
            ],
            "record_id": "P24268-1",
            "evidence": [
                {
                    "id": "0110725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110725"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z9Q9-1",
            "uniprot_ac": "A1Z9Q9",
            "uniprot_id": "A1Z9Q9_DROME",
            "refseq_ac": "NP_610961",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidase A1 domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG10104-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG10104",
                    "type": "recommended"
                },
                {
                    "name": "CG10104",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10104",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10104",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z9Q9-1",
            "evidence": [
                {
                    "id": "0110725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110725"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110725"
}