{
    "disease_id": "DOID:0070029",
    "recommended_name": {
        "id": "DOID:0070029",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070029",
        "name": "ITM2B-related cerebral amyloid angiopathy 1",
        "description": "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14."
    },
    "synonyms": [
        {
            "id": "DOID:0070029",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070029",
            "name": "Cerebral Amyloid Angiopathy, British Type",
            "description": ""
        },
        {
            "id": "DOID:0070029",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070029",
            "name": "FBD",
            "description": ""
        },
        {
            "id": "DOID:0070029",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070029",
            "name": "Familial British Dementia",
            "description": ""
        },
        {
            "id": "DOID:0070029",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070029",
            "name": "Presenile Dementia with Spastic Ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0008306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008306",
            "name": "ABri amyloidosis",
            "description": "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2."
        },
        {
            "id": "MONDO:0008306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008306",
            "name": "ABri amyloidosis",
            "description": ""
        },
        {
            "id": "MONDO:0008306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008306",
            "name": "FBD",
            "description": ""
        },
        {
            "id": "MONDO:0008306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008306",
            "name": "cerebral amyloid angiopathy, British type",
            "description": ""
        },
        {
            "id": "MONDO:0008306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008306",
            "name": "cerebral amyloid angiopathy, ITM2B-related, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008306",
            "name": "familial dementia, British type",
            "description": ""
        },
        {
            "id": "MONDO:0008306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008306",
            "name": "presenile dementia with spastic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0008306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008306",
            "name": "Bri amyloidosis",
            "description": ""
        },
        {
            "id": "MONDO:0008306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008306",
            "name": "dementia familial British",
            "description": ""
        },
        {
            "id": "MIM:176500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/176500",
            "name": "Cerebral amyloid angiopathy, ITM2B-related 1",
            "description": "Cerebral amyloid angiopathy, ITM2B-related 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070029"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070029",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070029",
            "categories": []
        },
        {
            "id": "MONDO:0008306",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008306",
            "categories": []
        },
        {
            "id": "MIM:176500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/176500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O89051-1",
            "uniprot_ac": "O89051",
            "uniprot_id": "ITM2B_MOUSE",
            "refseq_ac": "NP_032436",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integral membrane protein 2B",
                    "type": "recommended"
                },
                {
                    "name": "ABri23",
                    "type": "synonym"
                },
                {
                    "name": "Bri",
                    "type": "synonym"
                },
                {
                    "name": "C-terminal peptide",
                    "type": "synonym"
                },
                {
                    "name": "Immature BRI2",
                    "type": "synonym"
                },
                {
                    "name": "Mature BRI2",
                    "type": "synonym"
                },
                {
                    "name": "P23 peptide",
                    "type": "synonym"
                },
                {
                    "name": "Protein E25B",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein BRI",
                    "type": "synonym"
                },
                {
                    "name": "imBRI2",
                    "type": "synonym"
                },
                {
                    "name": "immature BRI2",
                    "type": "synonym"
                },
                {
                    "name": "integral membrane protein 2B (E25B protein)",
                    "type": "synonym"
                },
                {
                    "name": "integral membrane protein 2B precursor",
                    "type": "synonym"
                },
                {
                    "name": "mBRI2",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein BRI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itm2b",
                    "type": "recommended"
                },
                {
                    "name": "Bri2",
                    "type": "synonym"
                },
                {
                    "name": "Bricd2b",
                    "type": "synonym"
                },
                {
                    "name": "Bri",
                    "type": "synonym"
                },
                {
                    "name": "D14Sel6",
                    "type": "synonym"
                },
                {
                    "name": "E25BMM",
                    "type": "synonym"
                },
                {
                    "name": "Itm2b",
                    "type": "synonym"
                },
                {
                    "name": "imBRI2",
                    "type": "synonym"
                }
            ],
            "record_id": "O89051-1",
            "evidence": [
                {
                    "id": "0070029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y287-1",
            "uniprot_ac": "Q9Y287",
            "uniprot_id": "ITM2B_HUMAN",
            "refseq_ac": "NP_068839",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integral membrane protein 2B",
                    "type": "recommended"
                },
                {
                    "name": "ABri/ADan amyloid peptide",
                    "type": "synonym"
                },
                {
                    "name": "ABri23",
                    "type": "synonym"
                },
                {
                    "name": "BRICHOS domain containing 2B",
                    "type": "synonym"
                },
                {
                    "name": "Bri",
                    "type": "synonym"
                },
                {
                    "name": "C-terminal peptide",
                    "type": "synonym"
                },
                {
                    "name": "Immature BRI2",
                    "type": "synonym"
                },
                {
                    "name": "Mature BRI2",
                    "type": "synonym"
                },
                {
                    "name": "P23 peptide",
                    "type": "synonym"
                },
                {
                    "name": "Protein E25B",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein BRI",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "imBRI2",
                    "type": "synonym"
                },
                {
                    "name": "immature BRI2",
                    "type": "synonym"
                },
                {
                    "name": "integral membrane protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "mBRI2",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein BRI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ITM2B",
                    "type": "recommended"
                },
                {
                    "name": "ABRI",
                    "type": "synonym"
                },
                {
                    "name": "BRI2",
                    "type": "synonym"
                },
                {
                    "name": "BRICD2B",
                    "type": "synonym"
                },
                {
                    "name": "BRI",
                    "type": "synonym"
                },
                {
                    "name": "E25B",
                    "type": "synonym"
                },
                {
                    "name": "E3-16",
                    "type": "synonym"
                },
                {
                    "name": "FBD",
                    "type": "synonym"
                },
                {
                    "name": "ITM2B",
                    "type": "synonym"
                },
                {
                    "name": "RDGCA",
                    "type": "synonym"
                },
                {
                    "name": "imBRI2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y287-1",
            "evidence": [
                {
                    "id": "176500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/176500"
                },
                {
                    "id": "0070029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XIE8-1",
            "uniprot_ac": "Q5XIE8",
            "uniprot_id": "ITM2B_RAT",
            "refseq_ac": "NP_001006964",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integral membrane protein 2B",
                    "type": "recommended"
                },
                {
                    "name": "ABri23",
                    "type": "synonym"
                },
                {
                    "name": "Bri",
                    "type": "synonym"
                },
                {
                    "name": "C-terminal peptide",
                    "type": "synonym"
                },
                {
                    "name": "Immature BRI2",
                    "type": "synonym"
                },
                {
                    "name": "Mature BRI2",
                    "type": "synonym"
                },
                {
                    "name": "P23 peptide",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein BRI",
                    "type": "synonym"
                },
                {
                    "name": "imBRI2",
                    "type": "synonym"
                },
                {
                    "name": "immature BRI2",
                    "type": "synonym"
                },
                {
                    "name": "integral membrane protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "mBRI2",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein BRI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itm2b",
                    "type": "recommended"
                },
                {
                    "name": "Bri",
                    "type": "synonym"
                },
                {
                    "name": "Itm2b",
                    "type": "synonym"
                },
                {
                    "name": "imBRI2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XIE8-1",
            "evidence": [
                {
                    "id": "0070029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPT9-1",
            "uniprot_ac": "Q9VPT9",
            "uniprot_id": "Q9VPT9_DROME",
            "refseq_ac": "NP_001162847",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integral membrane protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CG3662-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG3662",
                    "type": "recommended"
                },
                {
                    "name": "CG3662",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3662",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3662",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPT9-1",
            "evidence": [
                {
                    "id": "0070029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070029"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070029"
}