{
    "disease_id": "DOID:0080975",
    "recommended_name": {
        "id": "DOID:0080975",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080975",
        "name": "intracranial berry aneurysm 12",
        "description": "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14."
    },
    "synonyms": [
        {
            "id": "MONDO:0032891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032891",
            "name": "aneurysm, intracranial berry, 12",
            "description": ""
        },
        {
            "id": "MONDO:0032891",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032891",
            "name": "ANIB12",
            "description": ""
        },
        {
            "id": "MIM:618734",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618734",
            "name": "Aneurysm, intracranial berry, 12",
            "description": "Aneurysm, intracranial berry, 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080975"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080975",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080975",
            "categories": []
        },
        {
            "id": "MONDO:0032891",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032891",
            "categories": []
        },
        {
            "id": "MIM:618734",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618734",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JM61-1",
            "uniprot_ac": "Q9JM61",
            "uniprot_id": "THSD1_MOUSE",
            "refseq_ac": "NP_062522",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thrombospondin type-1 domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane molecule with thrombospondin module",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin type-1 domain-containing protein 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin type-1 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane molecule with thrombospondin module",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thsd1",
                    "type": "recommended"
                },
                {
                    "name": "4833423O18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Thsd1",
                    "type": "synonym"
                },
                {
                    "name": "Tmtsp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JM61-1",
            "evidence": [
                {
                    "id": "0080975",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080975"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NS62-1",
            "uniprot_ac": "Q9NS62",
            "uniprot_id": "THSD1_HUMAN",
            "refseq_ac": "NP_061146",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thrombospondin type-1 domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "4833423O18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane molecule with thrombospondin module",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin type-1 domain-containing protein 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin type-1 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin, type I, domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane molecule with thrombospondin module",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "THSD1",
                    "type": "recommended"
                },
                {
                    "name": "ANIB12",
                    "type": "synonym"
                },
                {
                    "name": "LMPHM13",
                    "type": "synonym"
                },
                {
                    "name": "PRO9769",
                    "type": "synonym"
                },
                {
                    "name": "THSD1",
                    "type": "synonym"
                },
                {
                    "name": "TMTSP",
                    "type": "synonym"
                },
                {
                    "name": "UNQ3010",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NS62-1",
            "evidence": [
                {
                    "id": "618734",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618734"
                },
                {
                    "id": "0080975",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080975"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZW62-1",
            "uniprot_ac": "D3ZW62",
            "uniprot_id": "D3ZW62_RAT",
            "refseq_ac": "NP_001102348",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thrombospondin type 1 domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin type-1 domain-containing protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin type-1 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin, type I, domain 1",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin, type I, domain containing 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thsd1",
                    "type": "recommended"
                },
                {
                    "name": "Thsd1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZW62-1",
            "evidence": [
                {
                    "id": "0080975",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080975"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080975"
}