{
    "disease_id": "DOID:0060671",
    "recommended_name": {
        "id": "DOID:0060671",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060671",
        "name": "cerebral cavernous malformation 3",
        "description": "A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1."
    },
    "synonyms": [
        {
            "id": "MONDO:0011305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011305",
            "name": "cerebral cavernous malformation 3",
            "description": "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene."
        },
        {
            "id": "MONDO:0011305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011305",
            "name": "CCM3",
            "description": ""
        },
        {
            "id": "MONDO:0011305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011305",
            "name": "PDCD10 familial cerebral cavernous malformation",
            "description": ""
        },
        {
            "id": "MONDO:0011305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011305",
            "name": "cerebral cavernous malformation 3",
            "description": ""
        },
        {
            "id": "MONDO:0011305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011305",
            "name": "cerebral cavernous malformation type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011305",
            "name": "cerebral cavernous malformations 3",
            "description": ""
        },
        {
            "id": "MONDO:0011305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011305",
            "name": "cerebral cavernous malformations type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011305",
            "name": "cerebral cavernous malformations-3",
            "description": ""
        },
        {
            "id": "MONDO:0011305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011305",
            "name": "familial cerebral cavernous malformation caused by mutation in PDCD10",
            "description": ""
        },
        {
            "id": "MIM:603285",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603285",
            "name": "Cerebral cavernous malformations 3",
            "description": "Cerebral cavernous malformations 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060671"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060671",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060671",
            "categories": []
        },
        {
            "id": "MONDO:0011305",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011305",
            "categories": []
        },
        {
            "id": "MIM:603285",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603285",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PHH3-1",
            "uniprot_ac": "Q6PHH3",
            "uniprot_id": "PD10A_DANRE",
            "refseq_ac": "NP_956849",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Programmed cell death protein 10-A",
                    "type": "recommended"
                },
                {
                    "name": "programmed cell death 10",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death protein 10-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pdcd10a",
                    "type": "recommended"
                },
                {
                    "name": "ccm3a",
                    "type": "synonym"
                },
                {
                    "name": "pdcd10a",
                    "type": "synonym"
                },
                {
                    "name": "pdcd10",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-167c22.5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:65826",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PHH3-1",
            "evidence": [
                {
                    "id": "0060671",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060671"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NWL1-1",
            "uniprot_ac": "Q6NWL1",
            "uniprot_id": "PD10B_DANRE",
            "refseq_ac": "NP_998098",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Programmed cell death protein 10-B",
                    "type": "recommended"
                },
                {
                    "name": "ccm3b",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death protein 10-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pdcd10b",
                    "type": "recommended"
                },
                {
                    "name": "pdcd10b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85629",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NWL1-1",
            "evidence": [
                {
                    "id": "0060671",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060671"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VE70-1",
            "uniprot_ac": "Q8VE70",
            "uniprot_id": "PDC10_MOUSE",
            "refseq_ac": "NP_062719",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Programmed cell death protein 10",
                    "type": "recommended"
                },
                {
                    "name": "TF-1 cell apoptosis-related protein 15",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death protein 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdcd10",
                    "type": "recommended"
                },
                {
                    "name": "2410003B13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ccm3",
                    "type": "synonym"
                },
                {
                    "name": "Pdcd10",
                    "type": "synonym"
                },
                {
                    "name": "Tfa15",
                    "type": "synonym"
                },
                {
                    "name": "Tfar15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VE70-1",
            "evidence": [
                {
                    "id": "0060671",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060671"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BUL8-1",
            "uniprot_ac": "Q9BUL8",
            "uniprot_id": "PDC10_HUMAN",
            "refseq_ac": "NP_009148",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Programmed cell death protein 10",
                    "type": "recommended"
                },
                {
                    "name": "Cerebral cavernous malformations 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "TF-1 cell apoptosis-related protein 15",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-related protein 15",
                    "type": "synonym"
                },
                {
                    "name": "cerebral cavernous malformations 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death protein 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDCD10",
                    "type": "recommended"
                },
                {
                    "name": "CCM3",
                    "type": "synonym"
                },
                {
                    "name": "PDCD10",
                    "type": "synonym"
                },
                {
                    "name": "TFAR15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BUL8-1",
            "evidence": [
                {
                    "id": "603285",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603285"
                },
                {
                    "id": "0060671",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060671"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NX65-1",
            "uniprot_ac": "Q6NX65",
            "uniprot_id": "PDC10_RAT",
            "refseq_ac": "NP_001009542",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Programmed cell death protein 10",
                    "type": "recommended"
                },
                {
                    "name": "programmed cell death protein 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdcd10",
                    "type": "recommended"
                },
                {
                    "name": "Pdcd10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NX65-1",
            "evidence": [
                {
                    "id": "0060671",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060671"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VF70-1",
            "uniprot_ac": "Q9VF70",
            "uniprot_id": "Q9VF70_DROME",
            "refseq_ac": "NP_650459",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5073-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ccm3-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cerebral cavernous malformation 3",
                    "type": "synonym"
                },
                {
                    "name": "cerebral cavernous malformation 3 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "cerebral cavernous malformation 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccm3",
                    "type": "recommended"
                },
                {
                    "name": "CCM3",
                    "type": "synonym"
                },
                {
                    "name": "CG5073",
                    "type": "synonym"
                },
                {
                    "name": "Ccm3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5073",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5073",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VF70-1",
            "evidence": [
                {
                    "id": "0060671",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060671"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060671"
}