{
    "disease_id": "DOID:0060670",
    "recommended_name": {
        "id": "DOID:0060670",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060670",
        "name": "cerebral cavernous malformation 2",
        "description": "A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0011304",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011304",
            "name": "cerebral cavernous malformation 2",
            "description": "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene."
        },
        {
            "id": "MONDO:0011304",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011304",
            "name": "CCM2",
            "description": ""
        },
        {
            "id": "MONDO:0011304",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011304",
            "name": "CCM2 familial cerebral cavernous malformation",
            "description": ""
        },
        {
            "id": "MONDO:0011304",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011304",
            "name": "cerebral cavernous malformation 2",
            "description": ""
        },
        {
            "id": "MONDO:0011304",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011304",
            "name": "cerebral cavernous malformation type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011304",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011304",
            "name": "cerebral cavernous malformations type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011304",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011304",
            "name": "cerebral cavernous malformations-2",
            "description": ""
        },
        {
            "id": "MONDO:0011304",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011304",
            "name": "familial cerebral cavernous malformation caused by mutation in CCM2",
            "description": ""
        },
        {
            "id": "MONDO:0011304",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011304",
            "name": "cerebral cavernous malformations 2",
            "description": ""
        },
        {
            "id": "MIM:603284",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603284",
            "name": "Cerebral cavernous malformations 2",
            "description": "Cerebral cavernous malformations 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060670"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060670",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060670",
            "categories": []
        },
        {
            "id": "MONDO:0011304",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011304",
            "categories": []
        },
        {
            "id": "MIM:603284",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603284",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DRP4-1",
            "uniprot_ac": "Q6DRP4",
            "uniprot_id": "CCM2_DANRE",
            "refseq_ac": "NP_001002315",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cerebral cavernous malformations protein 2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Malcavernin",
                    "type": "synonym"
                },
                {
                    "name": "Valentine",
                    "type": "synonym"
                },
                {
                    "name": "cerebral cavernous malformation 2",
                    "type": "synonym"
                },
                {
                    "name": "cerebral cavernous malformations protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "malcavernin",
                    "type": "synonym"
                },
                {
                    "name": "valentine",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ccm2",
                    "type": "recommended"
                },
                {
                    "name": "TUF2",
                    "type": "synonym"
                },
                {
                    "name": "ccm2",
                    "type": "synonym"
                },
                {
                    "name": "vtn",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110233",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DRP4-1",
            "evidence": [
                {
                    "id": "0060670",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060670"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K2Y9-1",
            "uniprot_ac": "Q8K2Y9",
            "uniprot_id": "CCM2_MOUSE",
            "refseq_ac": "NP_666126",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cerebral cavernous malformations protein 2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Malcavernin",
                    "type": "synonym"
                },
                {
                    "name": "Osmosensing scaffold for MEKK3",
                    "type": "synonym"
                },
                {
                    "name": "cerebral cavernous malformation 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cerebral cavernous malformations protein 2 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cerebral cavernous malformations protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "malcavernin",
                    "type": "synonym"
                },
                {
                    "name": "osmosensing scaffold for MEKK3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccm2",
                    "type": "recommended"
                },
                {
                    "name": "Ccm2",
                    "type": "synonym"
                },
                {
                    "name": "Osm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K2Y9-1",
            "evidence": [
                {
                    "id": "0060670",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060670"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BSQ5-1",
            "uniprot_ac": "Q9BSQ5",
            "uniprot_id": "CCM2_HUMAN",
            "refseq_ac": "NP_001025006",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cerebral cavernous malformations 2 protein",
                    "type": "recommended"
                },
                {
                    "name": "CCM2 scaffolding protein",
                    "type": "synonym"
                },
                {
                    "name": "Malcavernin",
                    "type": "synonym"
                },
                {
                    "name": "cerebral cavernous malformation 2",
                    "type": "synonym"
                },
                {
                    "name": "cerebral cavernous malformations 2 protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cerebral cavernous malformations 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "malcavernin",
                    "type": "synonym"
                },
                {
                    "name": "osmosensing scaffold for MEKK3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCM2",
                    "type": "recommended"
                },
                {
                    "name": "C7orf22",
                    "type": "synonym"
                },
                {
                    "name": "CCM2",
                    "type": "synonym"
                },
                {
                    "name": "OSM",
                    "type": "synonym"
                },
                {
                    "name": "PP10187",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BSQ5-1",
            "evidence": [
                {
                    "id": "603284",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603284"
                },
                {
                    "id": "0060670",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060670"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZT10-1",
            "uniprot_ac": "A0A8I5ZT10",
            "uniprot_id": "A0A8I5ZT10_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": "CCM2 scaffold protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccm2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZT10-1",
            "evidence": [
                {
                    "id": "0060670",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060670"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060670"
}