{
    "disease_id": "DOID:0070027",
    "recommended_name": {
        "id": "DOID:0070027",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070027",
        "name": "CST3-related cerebral amyloid angiopathy",
        "description": "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0070027",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070027",
            "name": "Amyloidosis VI",
            "description": ""
        },
        {
            "id": "DOID:0070027",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070027",
            "name": "Amyloidosis, Cerebroarterial, Icelandic Type",
            "description": ""
        },
        {
            "id": "DOID:0070027",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070027",
            "name": "HCHWA",
            "description": ""
        },
        {
            "id": "DOID:0070027",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070027",
            "name": "Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant",
            "description": ""
        },
        {
            "id": "DOID:0070027",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070027",
            "name": "Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant",
            "description": ""
        },
        {
            "id": "MONDO:0007098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007098",
            "name": "ACys amyloidosis",
            "description": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages."
        },
        {
            "id": "MONDO:0007098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007098",
            "name": "cerebral amyloid angiopathy",
            "description": ""
        },
        {
            "id": "MONDO:0007098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007098",
            "name": "CST3-related amyloidosis",
            "description": ""
        },
        {
            "id": "MONDO:0007098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007098",
            "name": "HCHWA, Icelandic type",
            "description": ""
        },
        {
            "id": "MONDO:0007098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007098",
            "name": "amyloidosis, Cerebroarterial, Icelandic type",
            "description": ""
        },
        {
            "id": "MONDO:0007098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007098",
            "name": "cerebral hemorrhage, hereditary, with amyloidosis",
            "description": ""
        },
        {
            "id": "MONDO:0007098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007098",
            "name": "cystatin amyloidosis",
            "description": ""
        },
        {
            "id": "MONDO:0007098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007098",
            "name": "hereditary cerebral haemorrhage with amyloidosis",
            "description": ""
        },
        {
            "id": "MONDO:0007098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007098",
            "name": "hereditary cerebral haemorrhage with amyloidosis, Icelandic type",
            "description": ""
        },
        {
            "id": "MONDO:0007098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007098",
            "name": "hereditary cerebral hemorrhage with amyloidosis",
            "description": ""
        },
        {
            "id": "MONDO:0007098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007098",
            "name": "hereditary cerebral hemorrhage with amyloidosis, Icelandic type",
            "description": ""
        },
        {
            "id": "MONDO:0007098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007098",
            "name": "hereditary cystatin C amyloid angiopathy",
            "description": ""
        },
        {
            "id": "MIM:105150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/105150",
            "name": "Cerebral amyloid angiopathy, CST3-related",
            "description": "Cerebral amyloid angiopathy, CST3-related"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070027"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070027",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070027",
            "categories": []
        },
        {
            "id": "MONDO:0007098",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007098",
            "categories": []
        },
        {
            "id": "MIM:105150",
            "database": "MIM",
            "url": "https://www.omim.org/entry/105150",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "B8A4C9",
            "uniprot_id": "B8A4C9_DANRE",
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Cystatin C (Amyloid angiopathy and cerebral hemorrhage) precursor",
                    "type": "synonym"
                },
                {
                    "name": "cystatin C (amyloid angiopathy and cerebral hemorrhage) precursor",
                    "type": "synonym"
                }
            ],
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                    "name": "cst3",
                    "type": "recommended"
                },
                {
                    "name": "cst3",
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                },
                {
                    "name": "fb51d07",
                    "type": "synonym"
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                {
                    "name": "wu:fb24g06",
                    "type": "synonym"
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                {
                    "name": "wu:fb51d07",
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                },
                {
                    "name": "wu:fc55f03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136227",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0070027",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070027"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21460-1",
            "uniprot_ac": "P21460",
            "uniprot_id": "CYTC_MOUSE",
            "refseq_ac": "NP_034106",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystatin-C",
                    "type": "recommended"
                },
                {
                    "name": "Cystatin-3",
                    "type": "synonym"
                },
                {
                    "name": "cystatin-3",
                    "type": "synonym"
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                {
                    "name": "cystatin-C precursor",
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                    "name": "Cst3",
                    "type": "recommended"
                },
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                    "name": "Cst3",
                    "type": "synonym"
                },
                {
                    "name": "CysC",
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            ],
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        },
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            "uniprot_canonical_ac": "P01034-1",
            "uniprot_ac": "P01034",
            "uniprot_id": "CYTC_HUMAN",
            "refseq_ac": "NP_000090",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Cystatin-C",
                    "type": "recommended"
                },
                {
                    "name": "Cystatin-3",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-trace",
                    "type": "synonym"
                },
                {
                    "name": "Neuroendocrine basic polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Post-gamma-globulin",
                    "type": "synonym"
                },
                {
                    "name": "bA218C14.4 (cystatin C)",
                    "type": "synonym"
                },
                {
                    "name": "cystatin 3",
                    "type": "synonym"
                },
                {
                    "name": "cystatin-C precursor",
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                },
                {
                    "name": "epididymis secretory protein Li 2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-trace",
                    "type": "synonym"
                },
                {
                    "name": "neuroendocrine basic polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "post-gamma-globulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CST3",
                    "type": "recommended"
                },
                {
                    "name": "ADLDWA",
                    "type": "synonym"
                },
                {
                    "name": "ARMD11",
                    "type": "synonym"
                },
                {
                    "name": "CST3",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P01034-1",
            "evidence": [
                {
                    "id": "105150",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/105150"
                },
                {
                    "id": "0070027",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070027"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14841-1",
            "uniprot_ac": "P14841",
            "uniprot_id": "CYTC_RAT",
            "refseq_ac": "NP_036969",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystatin-C",
                    "type": "recommended"
                },
                {
                    "name": "Cystatin C (cysteine proteinase inhibitor)",
                    "type": "synonym"
                },
                {
                    "name": "Cystatin-3",
                    "type": "synonym"
                },
                {
                    "name": "cystatin-3",
                    "type": "synonym"
                },
                {
                    "name": "cystatin-C precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cst3",
                    "type": "recommended"
                },
                {
                    "name": "CYSC",
                    "type": "synonym"
                },
                {
                    "name": "Cst3",
                    "type": "synonym"
                }
            ],
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                    "id": "0070027",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070027"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05182-1",
            "uniprot_ac": "P05182",
            "uniprot_id": "CP2E1_RAT",
            "refseq_ac": "NP_113731",
            "glycoprotein": "no",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 2E1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.13.n7",
                    "type": "synonym"
                },
                {
                    "name": "1.14.14.1",
                    "type": "synonym"
                },
                {
                    "name": "4-nitrophenol 2-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "CYPIIE1",
                    "type": "synonym"
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                {
                    "name": "Cytochrome P450-J",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450RLM6",
                    "type": "synonym"
                },
                {
                    "name": "P450-J",
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                {
                    "name": "P450RLM6",
                    "type": "synonym"
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                {
                    "name": "cytochrome P450 2E1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 subfamily 2e1 (ethanol-inducible)",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily 2E, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450-J",
                    "type": "synonym"
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                {
                    "name": "cytochrome P450RLM6",
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                }
            ],
            "gene_names": [
                {
                    "name": "Cyp2e1",
                    "type": "recommended"
                },
                {
                    "name": "Cyp2e-1",
                    "type": "synonym"
                },
                {
                    "name": "Cyp2e1",
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                {
                    "name": "Cyp2e",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070027"
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            "uniprot_canonical_ac": "P09603-1",
            "uniprot_ac": "P09603",
            "uniprot_id": "CSF1_HUMAN",
            "refseq_ac": "NP_757349",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Macrophage colony-stimulating factor 1",
                    "type": "recommended"
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                {
                    "name": "CSF-1",
                    "type": "synonym"
                },
                {
                    "name": "CSF1-hERV-LTR71B fusion protein",
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                },
                {
                    "name": "Lanimostim",
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                },
                {
                    "name": "M-CSF",
                    "type": "synonym"
                },
                {
                    "name": "MCSF",
                    "type": "synonym"
                },
                {
                    "name": "PG-M-CSF",
                    "type": "synonym"
                },
                {
                    "name": "Proteoglycan macrophage colony-stimulating factor",
                    "type": "synonym"
                },
                {
                    "name": "colony stimulating factor 1 (macrophage)",
                    "type": "synonym"
                },
                {
                    "name": "lanimostim",
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                {
                    "name": "macrophage colony stimulating factor 1",
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                },
                {
                    "name": "macrophage colony-stimulating factor 1 isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "proteoglycan macrophage colony-stimulating factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CSF1",
                    "type": "recommended"
                },
                {
                    "name": "CSF-1",
                    "type": "synonym"
                },
                {
                    "name": "CSF1",
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                },
                {
                    "name": "MCSF",
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                },
                {
                    "name": "PG-M-CSF",
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                    "id": "0070027",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070027"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070027"
}
