{
    "disease_id": "DOID:0061236",
    "recommended_name": {
        "id": "DOID:0061236",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061236",
        "name": "brain small vessel disease 6 with leukoencephalopathy",
        "description": "A brain small vessel disease characterized by central nervous system manifestations, including migraine, stroke, transient movement disorders, gait disturbance, and progressive cognitive decline that has_material_basis_in heterozygous mutation in the CTSA gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0980711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980711",
            "name": "brain small vessel disease 6 with leukoencephalopathy",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061236"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061236",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061236",
            "categories": []
        },
        {
            "id": "MONDO:0980711",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980711",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P16675-1",
            "uniprot_ac": "P16675",
            "uniprot_id": "PPGB_MOUSE",
            "refseq_ac": "NP_001033581",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosomal protective protein",
                    "type": "recommended"
                },
                {
                    "name": "3.4.16.5",
                    "type": "synonym"
                },
                {
                    "name": "Carboxypeptidase C",
                    "type": "synonym"
                },
                {
                    "name": "Carboxypeptidase L",
                    "type": "synonym"
                },
                {
                    "name": "Cathepsin A",
                    "type": "synonym"
                },
                {
                    "name": "PPCA",
                    "type": "synonym"
                },
                {
                    "name": "Protective protein cathepsin A",
                    "type": "synonym"
                },
                {
                    "name": "Protective protein for beta-galactosidase",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase C",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase L",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal protective protein isoform b preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal protective protein",
                    "type": "synonym"
                },
                {
                    "name": "protective protein cathepsin A",
                    "type": "synonym"
                },
                {
                    "name": "protective protein for beta-galactosidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctsa",
                    "type": "recommended"
                },
                {
                    "name": "Ctsa",
                    "type": "synonym"
                },
                {
                    "name": "PPCA",
                    "type": "synonym"
                },
                {
                    "name": "Ppgb",
                    "type": "synonym"
                }
            ],
            "record_id": "P16675-1",
            "evidence": [
                {
                    "id": "0061236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061236"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10619-1",
            "uniprot_ac": "P10619",
            "uniprot_id": "PPGB_HUMAN",
            "refseq_ac": "NP_001121167",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosomal protective protein",
                    "type": "recommended"
                },
                {
                    "name": "3.4.16.5",
                    "type": "synonym"
                },
                {
                    "name": "Carboxypeptidase C",
                    "type": "synonym"
                },
                {
                    "name": "Carboxypeptidase L",
                    "type": "synonym"
                },
                {
                    "name": "Cathepsin A",
                    "type": "synonym"
                },
                {
                    "name": "PPCA",
                    "type": "synonym"
                },
                {
                    "name": "Protective protein cathepsin A",
                    "type": "synonym"
                },
                {
                    "name": "Protective protein for beta-galactosidase",
                    "type": "synonym"
                },
                {
                    "name": "beta-galactosidase 2",
                    "type": "synonym"
                },
                {
                    "name": "beta-galactosidase protective protein",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase C",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase Y-like kininase",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase-L",
                    "type": "synonym"
                },
                {
                    "name": "deamidase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal carboxypeptidase A",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal protective protein isoform b preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal protective protein",
                    "type": "synonym"
                },
                {
                    "name": "protective protein cathepsin A",
                    "type": "synonym"
                },
                {
                    "name": "urinary kininase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTSA",
                    "type": "recommended"
                },
                {
                    "name": "BSVD6",
                    "type": "synonym"
                },
                {
                    "name": "CTSA",
                    "type": "synonym"
                },
                {
                    "name": "GLB2",
                    "type": "synonym"
                },
                {
                    "name": "GSL",
                    "type": "synonym"
                },
                {
                    "name": "NGBE",
                    "type": "synonym"
                },
                {
                    "name": "PPCA",
                    "type": "synonym"
                },
                {
                    "name": "PPGB",
                    "type": "synonym"
                }
            ],
            "record_id": "P10619-1",
            "evidence": [
                {
                    "id": "621394",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621394"
                },
                {
                    "id": "0061236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061236"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38109-1",
            "uniprot_ac": "P38109",
            "uniprot_id": "ATG42_YEAST",
            "refseq_ac": "NP_009697",
            "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": "Vacuolar serine-type carboxypeptidase ATG42",
                    "type": "recommended"
                },
                {
                    "name": "3.4.16.5",
                    "type": "synonym"
                },
                {
                    "name": "CPC",
                    "type": "synonym"
                },
                {
                    "name": "Carboxypeptidase C",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATG42",
                    "type": "recommended"
                },
                {
                    "name": "ATG42",
                    "type": "synonym"
                },
                {
                    "name": "YBR1015",
                    "type": "synonym"
                }
            ],
            "record_id": "P38109-1",
            "evidence": [
                {
                    "id": "0061236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061236"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00729-1",
            "uniprot_ac": "P00729",
            "uniprot_id": "CBPY_YEAST",
            "refseq_ac": "NP_014026",
            "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": "Carboxypeptidase Y",
                    "type": "recommended"
                },
                {
                    "name": "3.4.16.5",
                    "type": "synonym"
                },
                {
                    "name": "CPD-Y",
                    "type": "synonym"
                },
                {
                    "name": "Carboxypeptidase YSCY",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase C PRC1",
                    "type": "synonym"
                },
                {
                    "name": "cpY",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRC1",
                    "type": "recommended"
                },
                {
                    "name": "CPY1",
                    "type": "synonym"
                },
                {
                    "name": "LBC1",
                    "type": "synonym"
                },
                {
                    "name": "PRC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P00729-1",
            "evidence": [
                {
                    "id": "0061236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061236"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6ARV9-1",
            "uniprot_ac": "A0A8I6ARV9",
            "uniprot_id": "A0A8I6ARV9_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": "Carboxypeptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.16.-",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctsa",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6ARV9-1",
            "evidence": [
                {
                    "id": "0061236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061236"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061236"
}